RefSeq summary
[LSS] The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and vitamin D. Alternative splicing results in multiple transcript variants encoding different isoforms.
RefSeq annotates 4 representative transcripts (NM included in AceView variants .a, .b, .c and .d), but Homo sapiens cDNA sequences in GenBank, dbEST, Trace and SRA, filtered against clone rearrangements, coaligned on the genome and clustered in a minimal non-redundant way by the manually supervised AceView program, support at least 29 spliced variants .
AceView synopsis, each blue text links to tables and details
Note that this locus is complex: it appears to produce several proteins with no sequence overlap.
Expression: According to AceView, this gene is
expressed at very high level , 5.5 times the average gene in this release. The
sequence of this gene is defined by
716 GenBank accessions , some from brain (seen 84 times), hippocampus (42), lung (36), thalamus (34), prostate (32), amygdala (25), testis (22) and 117 other
tissues . We annotate
structural defects or features in 2 cDNA clones.
Alternative mRNA variants and regulation: The gene contains
42 distinct introns (39 gt-ag, 3 gc-ag). Transcription produces
33 different mRNAs , 29 alternatively spliced variants and 4 unspliced forms. There are 10 probable
alternative promotors , 12 non overlapping alternative last exons and 8 validated
alternative polyadenylation sites (see the
diagram ). The mRNAs appear to differ by truncation of the 5' end, truncation of the 3' end, presence or absence of 22
cassette exons , overlapping exons with different boundaries, splicing versus retention of 7 introns. 448 bp of this gene
are antisense to spliced gene klorley.aAug10 , 122 to
lytee.bAug10 , raising the possibility of regulated alternate expression.
3 variants were isolated
in vivo , despite the fact that they are predicted targets of
nonsense mediated mRNA decay (NMD).
Efficacy of translation may be reduced by the presence of a shorter translated product (
uORF ) initiating at an AUG upstream of the main open reading frame (in variant rAug10, sAug10).
Function: There are
16 articles specifically referring to this gene in PubMed. Functionally, the gene has been tested for association to
diseases (Cholesterol, HDL/blood*; Hair Diseases; Holoprosencephaly), proposed to participate in
pathways (Metabolic pathways, Steroid biosynthesis) and
processes (cholesterol biosynthetic process, steroid metabolic process, steroid biosynthetic process, sterol metabolic process). Proteins are expected to have molecular
functions (intramolecular transferase activity, lanosterol synthase activity) and to
localize in various compartments (cytoplasm, endoplasmic reticulum, endoplasmic reticulum membrane, microsome).
Protein coding potential: 23 spliced mRNAs putatively encode
good proteins , altogether
22 different isoforms (14 complete, 2 COOH complete, 6 partial ), some containing Prenyltransferase and squalene oxidase repeat
domain [Pfam]. The remaining 10 mRNA variants (6 spliced, 4 unspliced; 3 partial) appear not to encode good proteins.
Please quote:
AceView: a comprehensive cDNA-supported gene and transcripts annotation, Genome Biology 2006, 7(Suppl 1):S12 .
Map on chromosome 21, links to other databases and other names
Map: This gene LSS maps on chromosome 21, at 21q22.3 according to Entrez Gene. In AceView, it covers
41.53 kb , from 47648738 to 47607211 (NCBI 37, August 2010), on the reverse strand.
Links to: , manual annotations from
GAD ,
KEGG_00100 ,
KEGG_01100 , the
SNP view, gene overviews from
Entrez Gene 4047 ,
GeneCards , expression data from
ECgene ,
UniGene , molecular and other annotations from
UCSC , or our
GOLD analysis.
The previous AceView annotation is
here .
Other names: The gene is also known as LSS, OSC, FLJ25486, FLJ35015, FLJ39450, FLJ46393 or LOC4047, farnaw. It has been described as lanosterol synthase, hOSC, oxidosqualene--lanosterol cyclase, 2,3-epoxysqualene-lanosterol cyclase, 2,3-epoxysqualene--lanosterol cyclase.
EC number: This gene encodes protein number: 5.4.99.7.
Closest AceView homologs in other species
?
The closest mouse gene , according to BlastP, is the AceView gene
Lss (e=3 10
-48 ).
The closest A.thaliana genes , according to BlastP, are the AceView genes
LAS1 (e=10
-14 ),
CAS1 (e=4 10
-13 )
LSS
Gene expression in 15 primates, 16 tissues, from the NHPRTR project in sFPKM
BAB
SkeletalMuscle
WholeBlood
CHP
Kidney
Liver
Lung
Spleen
CMC
CMM
Cerebellum
HUM
Brain
Colon
Heart
LymphNode
Ovary
Testis
JMI
BoneMarrow
MLM
OWL
PTM
RMC
RMI
Pituitary
SQM
Thymus
MST
SMY
RTL
0.68
5.04
8.78
11.6
16.4
3.33
10.1
18.8
2.35
7.64
2.52
26.6
13.3
11.6
13.3
24.8
8.19
28.5
14.3
43.2
17.6
6.65
1.55
0.96
0.45
0.89
0.89
0.24
1.55
1.91
2.70
2.19
1.18
2.70
3.33
1.78
43.2
28.5
8.78
10.8
5.79
7.13
10.1
2.90
4.71
7.13
11.6
10.1
16.4
3.33
4.10
18.8
4.71
6.65
2.70
2.19
4.39
15.3
1.78
10.8
6.21
7.64
17.6
18.8
10.8
4.71
4.39
4.39
2.90
4.10
5.40
1.18
0.55
4.39
3.33
3.10
8.78
3.82
7.64
4.71
6.21
0.59
2.35
2.70
5.04
3.57
7.64
1.35
3.57
4.39
3.82
5.79
1.35
3.57
5.40
5.04
4.39
0.72
2.70
2.90
24.8
3.33
3.10
1.66
1.26
2.70
4.71
6.21
6.21
2.70
2.90
8.78
8.19
6.65
7.13
6.65
0.83
4.10
4.10
7.64
3.33
5.79
2.52
3.82
2.35
5.79
6.21
1.55
2.19
8.78
5.79
7.64
6.65
3.82
6.21
8.19
0.83
4.10
0.68
1.91
5.04
1.91
4.71
8.19
5.40
0.59
2.05
2.05
3.57
1.91
0.63
6.65
7.64
4.39
1.45
2.70
0.72
Expression
quantiles
None
Weak
1
2
3
4
5
6
7
8
10
20
This gene
All genes
log2 distributions
RNA-seq gene expression profile across 16 selected tissues from the Non-Human Primates Reference Transcriptome Resource (link to
NHPRTR project ).
- Primates:
Apes (
HUM : Human (Illumina BodyMap 2),
CHP : Chimpanzee),
Old World monkeys (
PTM : Pig-Tailed Macaque,
JMI Japanese Macaque,
RMI Rhesus Macaque Indian,
RMC Rhesus Macaque Chinese,
CMM Cynomolgus Macaque Mauritian,
CMC Cynomolgus Macaque Chinese,
BAB Olive Baboon,
SMY Sooty Mangabey);
New World monkeys (
MST common Marmoset,
SQM Squirrel Monkey,
OWL Owl Monkey); and
Lemurs (
MLM Mouse Lemur,
RTL Ring-Tailed Lemur).
- The level for significantly expressed genes is color coded in 8 equal sized bins (light to dark green). Light gray is for weak not-accurately measured expression (2 to 8 reads above intergenic background); dark gray for no expression or no sequence conservation (0 read in gene). The plot to the right shows the distribution of measured expression values in all tissues for
all genes (blue) and for
this gene (green) , in Magic index = log
2 (1000 sFPKM).
You may also examine the strand-specific
genome coverage plots on the experimental AceView/Magic hub at UCSC , by tissue or by species. Tracks may be
slow to load ; please reload if some tracks come up yellow-greenish, and thanks to UCSC for the great work!.
Read more...
About UCSC tracks: you may enjoy the plots for the summed coverage over all primates' libraries (top track), summarizing 3 terabases of stranded RNA-seq. Fragments mapping on the + strand of the genome (from genes on the + strand) are red (or dark), on minus strand blue (or light) and antisense transcribed areas are black or overlaid. The vertical scale for each track is self-adapting. Homozygous SNPs tracks are also presented.
About mapping: Primates body map RNA-seq data were stringently mapped to the human genome using the NCBI Magic pipeline. Normalized results are shown as significant FPKM (sFPKM), which includes corrections on F, K and M, computed from parameters measured directly in each RNA-seq experiment, to render the expression measures more significant and more robust to experimental biases. Only fragments with both reads mapped uniquely and over at least 80+80 bases ending with 8 exact bases on each side of each read, and facing each other in a single site or gene, are included in the computation of the sFPKM/index, in the coverage plots, and in the determination of homozygous SNPs (minimum coverage 10, minimum allele frequency 95%). But be aware that genes whose sequence evolved to become too distant from Human cannot be measured well, this bias can be appreciated in the per-species coverage plots at UCSC.
About libraries: For non-human primates, total RNA libraries used TruSeq, ribozero and the stranded UDG protocol. The human 2010 libraries used the polyA selected non-stranded protocol, with short reads (50, 75 or 50+50 bases); furthermore the insert lengths are larger in human than in the non-human primates (average insert size 187 bp in non-human primates versus 232 bp in human). These protocol differences may impact expression measures for the non polyadenylated genes (or genes with shorter or occasional polyA tails), for the pseudogenes or close gene families (specificity is reduced in humans due to shorter reads), and for the very short genes.
Complete gene on genome diagram:
Compact gene diagram
Gene LSS
5'
3'
encoded on minus strand of chromosome 21 from 47,648,738 to 47,607,211
48130
53606
41627
50518
60355
51143
56933
62594
60630
68663
35495
60380
55606
69802
65103
52128
88259
63300
121649
a
[NM]
48130
53606
41627
50518
60355
51143
56933
62594
60630
68663
35495
60380
55606
69802
65103
52128
88259
63300
121649
80
b
[NM]
48130
53606
2826
50518
60355
51143
56933
62594
60630
68663
35495
60380
55606
69802
65103
52128
88259
63300
121649
c
[NM]
48130
53606
41627
50518
60355
51143
56933
62594
60630
68663
35495
60380
55606
69802
65103
52128
88259
63300
121649
d
[NM]
41627
50518
60355
51143
56933
62594
60630
68663
35495
60380
55606
69802
65103
52128
88259
63300
121649
e
96
53606
41627
ve
121649
f
48130
l
60355
vk
65103
52128
88259
63300
515
g
48130
53606
41627
50518
1
h
1617
vh
1
65103
52128
88259
121649
5959
j
48130
53606
41627
1462
r
i
48130
314
vg
2359
88259
63300
121649
k
48130
53606
2826
m
vc-u
vj-u
48130
36
5
o
51143
56933
62594
s
1458
88259
63300
121649
5959
n
12
50518
q
515
p
48130
53606
2826
50518
t
13
60355
51143
u
vl
vi-u
51143
56933
va
48130
1
60380
55606
69802
vf
88259
vb
vd-u
5kb
0
93 bp exon
93 bp exon
132 bp [gt-ag] intron
171 GenBank accessions
19579 RNA-seq supporting reads
2795 UHR pooled cells
2575 Brain
435 Blood
13247 Neuroblastoma
527 Other
(also 614 Primates bodymap)
166 bp exon
743 bp [gt-ag] intron
219 GenBank accessions
47911 RNA-seq supporting reads
7787 UHR pooled cells
5447 Brain
1800 Blood
32007 Neuroblastoma
870 Other
(also 2733 Primates bodymap)
139 bp exon
4813 bp [gt-ag] intron
223 GenBank accessions
53383 RNA-seq supporting reads
10236 UHR pooled cells
6798 Brain
1183 Blood
34016 Neuroblastoma
1150 Other
(also 3991 Primates bodymap)
109 bp exon
654 bp [gt-ag] intron
200 GenBank accessions
41427 RNA-seq supporting reads
7495 UHR pooled cells
5397 Brain
1341 Blood
26205 Neuroblastoma
989 Other
(also 2191 Primates bodymap)
122 bp exon
2281 bp [gt-ag] intron
117 GenBank accessions
50401 RNA-seq supporting reads
9723 UHR pooled cells
6544 Brain
2121 Blood
30965 Neuroblastoma
1048 Other
(also 2190 Primates bodymap)
97 bp exon
2951 bp [gt-ag] intron
43 GenBank accessions
60312 RNA-seq supporting reads
11355 UHR pooled cells
7574 Brain
2690 Blood
37441 Neuroblastoma
1252 Other
(also 3764 Primates bodymap)
136 bp exon
595 bp [gt-ag] intron
41 GenBank accessions
51102 RNA-seq supporting reads
8707 UHR pooled cells
6148 Brain
2070 Blood
33047 Neuroblastoma
1130 Other
(also 3336 Primates bodymap)
109 bp exon
386 bp [gt-ag] intron
39 GenBank accessions
56894 RNA-seq supporting reads
10783 UHR pooled cells
7096 Brain
1861 Blood
35994 Neuroblastoma
1160 Other
(also 2424 Primates bodymap)
119 bp exon
1344 bp [gt-ag] intron
40 GenBank accessions
62554 RNA-seq supporting reads
12086 UHR pooled cells
8133 Brain
2897 Blood
38295 Neuroblastoma
1143 Other
(also 3219 Primates bodymap)
98 bp exon
685 bp [gt-ag] intron
35 GenBank accessions
60595 RNA-seq supporting reads
11629 UHR pooled cells
7610 Brain
2434 Blood
37785 Neuroblastoma
1137 Other
(also 3274 Primates bodymap)
28 bp exon
2280 bp [gt-ag] intron
35 GenBank accessions
68628 RNA-seq supporting reads
13043 UHR pooled cells
8501 Brain
3002 Blood
42909 Neuroblastoma
1173 Other
(also 3609 Primates bodymap)
57 bp exon
1062 bp [gt-ag] intron
38 GenBank accessions
35457 RNA-seq supporting reads
6603 UHR pooled cells
4374 Brain
1176 Blood
22643 Neuroblastoma
661 Other
(also 2165 Primates bodymap)
72 bp exon
1252 bp [gt-ag] intron
40 GenBank accessions
60340 RNA-seq supporting reads
11433 UHR pooled cells
7410 Brain
2470 Blood
37917 Neuroblastoma
1110 Other
(also 2087 Primates bodymap)
51 bp exon
673 bp [gt-ag] intron
43 GenBank accessions
55563 RNA-seq supporting reads
10782 UHR pooled cells
7016 Brain
1742 Blood
35075 Neuroblastoma
948 Other
(also 2277 Primates bodymap)
150 bp exon
659 bp [gt-ag] intron
42 GenBank accessions
69760 RNA-seq supporting reads
13864 UHR pooled cells
9341 Brain
2316 Blood
43089 Neuroblastoma
1150 Other
(also 2641 Primates bodymap)
97 bp exon
730 bp [gt-ag] intron
33 GenBank accessions
65070 RNA-seq supporting reads
13701 UHR pooled cells
8608 Brain
2454 Blood
39210 Neuroblastoma
1097 Other
(also 3448 Primates bodymap)
106 bp exon
9568 bp [gt-ag] intron
37 GenBank accessions
52091 RNA-seq supporting reads
10572 UHR pooled cells
6268 Brain
1632 Blood
32768 Neuroblastoma
851 Other
(also 2105 Primates bodymap)
66 bp exon
445 bp [gt-ag] intron
37 GenBank accessions
62282 RNA-seq supporting reads
11609 UHR pooled cells
7445 Brain
2616 Blood
39576 Neuroblastoma
1036 Other
(also 2549 Primates bodymap)
81 bp exon
1014 bp [gt-ag] intron
41 GenBank accessions
88218 RNA-seq supporting reads
16602 UHR pooled cells
11395 Brain
2011 Blood
56871 Neuroblastoma
1339 Other
(also 2686 Primates bodymap)
171 bp exon
2531 bp [gt-ag] intron
43 GenBank accessions
63257 RNA-seq supporting reads
16375 UHR pooled cells
8101 Brain
2037 Blood
35677 Neuroblastoma
1067 Other
(also 3325 Primates bodymap)
79 bp exon
645 bp [gt-ag] intron
56 GenBank accessions
121593 RNA-seq supporting reads
24343 UHR pooled cells
15897 Brain
3327 Blood
76257 Neuroblastoma
1769 Other
(also 3739 Primates bodymap)
2112 bp exon
5 accessions, NM_002340.5
some from brain (seen once)
eye, retinoblastoma (once)
fetal brain (once), liver (once)
capped 5' end, 1 accession
Validated 3' end, 1 accession
2112 bp exon
93 bp exon
93 bp exon
132 bp [gt-ag] intron
171 GenBank accessions
19579 RNA-seq supporting reads
2795 UHR pooled cells
2575 Brain
435 Blood
13247 Neuroblastoma
527 Other
(also 614 Primates bodymap)
166 bp exon
743 bp [gt-ag] intron
219 GenBank accessions
47911 RNA-seq supporting reads
7787 UHR pooled cells
5447 Brain
1800 Blood
32007 Neuroblastoma
870 Other
(also 2733 Primates bodymap)
139 bp exon
4813 bp [gt-ag] intron
223 GenBank accessions
53383 RNA-seq supporting reads
10236 UHR pooled cells
6798 Brain
1183 Blood
34016 Neuroblastoma
1150 Other
(also 3991 Primates bodymap)
109 bp exon
654 bp [gt-ag] intron
200 GenBank accessions
41427 RNA-seq supporting reads
7495 UHR pooled cells
5397 Brain
1341 Blood
26205 Neuroblastoma
989 Other
(also 2191 Primates bodymap)
122 bp exon
2281 bp [gt-ag] intron
117 GenBank accessions
50401 RNA-seq supporting reads
9723 UHR pooled cells
6544 Brain
2121 Blood
30965 Neuroblastoma
1048 Other
(also 2190 Primates bodymap)
97 bp exon
2951 bp [gt-ag] intron
43 GenBank accessions
60312 RNA-seq supporting reads
11355 UHR pooled cells
7574 Brain
2690 Blood
37441 Neuroblastoma
1252 Other
(also 3764 Primates bodymap)
136 bp exon
595 bp [gt-ag] intron
41 GenBank accessions
51102 RNA-seq supporting reads
8707 UHR pooled cells
6148 Brain
2070 Blood
33047 Neuroblastoma
1130 Other
(also 3336 Primates bodymap)
109 bp exon
386 bp [gt-ag] intron
39 GenBank accessions
56894 RNA-seq supporting reads
10783 UHR pooled cells
7096 Brain
1861 Blood
35994 Neuroblastoma
1160 Other
(also 2424 Primates bodymap)
119 bp exon
1344 bp [gt-ag] intron
40 GenBank accessions
62554 RNA-seq supporting reads
12086 UHR pooled cells
8133 Brain
2897 Blood
38295 Neuroblastoma
1143 Other
(also 3219 Primates bodymap)
98 bp exon
685 bp [gt-ag] intron
35 GenBank accessions
60595 RNA-seq supporting reads
11629 UHR pooled cells
7610 Brain
2434 Blood
37785 Neuroblastoma
1137 Other
(also 3274 Primates bodymap)
28 bp exon
2280 bp [gt-ag] intron
35 GenBank accessions
68628 RNA-seq supporting reads
13043 UHR pooled cells
8501 Brain
3002 Blood
42909 Neuroblastoma
1173 Other
(also 3609 Primates bodymap)
57 bp exon
1062 bp [gt-ag] intron
38 GenBank accessions
35457 RNA-seq supporting reads
6603 UHR pooled cells
4374 Brain
1176 Blood
22643 Neuroblastoma
661 Other
(also 2165 Primates bodymap)
72 bp exon
1252 bp [gt-ag] intron
40 GenBank accessions
60340 RNA-seq supporting reads
11433 UHR pooled cells
7410 Brain
2470 Blood
37917 Neuroblastoma
1110 Other
(also 2087 Primates bodymap)
51 bp exon
673 bp [gt-ag] intron
43 GenBank accessions
55563 RNA-seq supporting reads
10782 UHR pooled cells
7016 Brain
1742 Blood
35075 Neuroblastoma
948 Other
(also 2277 Primates bodymap)
150 bp exon
659 bp [gt-ag] intron
42 GenBank accessions
69760 RNA-seq supporting reads
13864 UHR pooled cells
9341 Brain
2316 Blood
43089 Neuroblastoma
1150 Other
(also 2641 Primates bodymap)
97 bp exon
730 bp [gt-ag] intron
33 GenBank accessions
65070 RNA-seq supporting reads
13701 UHR pooled cells
8608 Brain
2454 Blood
39210 Neuroblastoma
1097 Other
(also 3448 Primates bodymap)
106 bp exon
9568 bp [gt-ag] intron
37 GenBank accessions
52091 RNA-seq supporting reads
10572 UHR pooled cells
6268 Brain
1632 Blood
32768 Neuroblastoma
851 Other
(also 2105 Primates bodymap)
66 bp exon
445 bp [gt-ag] intron
37 GenBank accessions
62282 RNA-seq supporting reads
11609 UHR pooled cells
7445 Brain
2616 Blood
39576 Neuroblastoma
1036 Other
(also 2549 Primates bodymap)
81 bp exon
1014 bp [gt-ag] intron
41 GenBank accessions
88218 RNA-seq supporting reads
16602 UHR pooled cells
11395 Brain
2011 Blood
56871 Neuroblastoma
1339 Other
(also 2686 Primates bodymap)
171 bp exon
2531 bp [gt-ag] intron
43 GenBank accessions
63257 RNA-seq supporting reads
16375 UHR pooled cells
8101 Brain
2037 Blood
35677 Neuroblastoma
1067 Other
(also 3325 Primates bodymap)
79 bp exon
645 bp [gt-ag] intron
56 GenBank accessions
121593 RNA-seq supporting reads
24343 UHR pooled cells
15897 Brain
3327 Blood
76257 Neuroblastoma
1769 Other
(also 3739 Primates bodymap)
170 bp exon
170 bp exon
2244 bp [gt-ag] intron
3 GenBank accessions
77 RNA-seq supporting reads
16 UHR pooled cells
4 Brain
3 Blood
54 Neuroblastoma
204 accessions, NM_001001438.2
some from brain (seen 33 times)
hippocampus (18), thalamus (17)
lung (15), amygdala (10)
capped 5' end, 141 accessions
Validated 3' end, 1 accession
Validated 3' end, 1 accession
1525 bp exon
93 bp exon
93 bp exon
132 bp [gt-ag] intron
171 GenBank accessions
19579 RNA-seq supporting reads
2795 UHR pooled cells
2575 Brain
435 Blood
13247 Neuroblastoma
527 Other
(also 614 Primates bodymap)
166 bp exon
743 bp [gt-ag] intron
219 GenBank accessions
47911 RNA-seq supporting reads
7787 UHR pooled cells
5447 Brain
1800 Blood
32007 Neuroblastoma
870 Other
(also 2733 Primates bodymap)
139 bp exon
4813 bp [gt-ag] intron
223 GenBank accessions
53383 RNA-seq supporting reads
10236 UHR pooled cells
6798 Brain
1183 Blood
34016 Neuroblastoma
1150 Other
(also 3991 Primates bodymap)
76 bp exon
687 bp [gt-ag] intron
21 GenBank accessions
2805 RNA-seq supporting reads
604 UHR pooled cells
352 Brain
174 Blood
1613 Neuroblastoma
62 Other
(also 18 Primates bodymap)
122 bp exon
2281 bp [gt-ag] intron
117 GenBank accessions
50401 RNA-seq supporting reads
9723 UHR pooled cells
6544 Brain
2121 Blood
30965 Neuroblastoma
1048 Other
(also 2190 Primates bodymap)
97 bp exon
2951 bp [gt-ag] intron
43 GenBank accessions
60312 RNA-seq supporting reads
11355 UHR pooled cells
7574 Brain
2690 Blood
37441 Neuroblastoma
1252 Other
(also 3764 Primates bodymap)
136 bp exon
595 bp [gt-ag] intron
41 GenBank accessions
51102 RNA-seq supporting reads
8707 UHR pooled cells
6148 Brain
2070 Blood
33047 Neuroblastoma
1130 Other
(also 3336 Primates bodymap)
109 bp exon
386 bp [gt-ag] intron
39 GenBank accessions
56894 RNA-seq supporting reads
10783 UHR pooled cells
7096 Brain
1861 Blood
35994 Neuroblastoma
1160 Other
(also 2424 Primates bodymap)
119 bp exon
1344 bp [gt-ag] intron
40 GenBank accessions
62554 RNA-seq supporting reads
12086 UHR pooled cells
8133 Brain
2897 Blood
38295 Neuroblastoma
1143 Other
(also 3219 Primates bodymap)
98 bp exon
685 bp [gt-ag] intron
35 GenBank accessions
60595 RNA-seq supporting reads
11629 UHR pooled cells
7610 Brain
2434 Blood
37785 Neuroblastoma
1137 Other
(also 3274 Primates bodymap)
28 bp exon
2280 bp [gt-ag] intron
35 GenBank accessions
68628 RNA-seq supporting reads
13043 UHR pooled cells
8501 Brain
3002 Blood
42909 Neuroblastoma
1173 Other
(also 3609 Primates bodymap)
57 bp exon
1062 bp [gt-ag] intron
38 GenBank accessions
35457 RNA-seq supporting reads
6603 UHR pooled cells
4374 Brain
1176 Blood
22643 Neuroblastoma
661 Other
(also 2165 Primates bodymap)
72 bp exon
1252 bp [gt-ag] intron
40 GenBank accessions
60340 RNA-seq supporting reads
11433 UHR pooled cells
7410 Brain
2470 Blood
37917 Neuroblastoma
1110 Other
(also 2087 Primates bodymap)
51 bp exon
673 bp [gt-ag] intron
43 GenBank accessions
55563 RNA-seq supporting reads
10782 UHR pooled cells
7016 Brain
1742 Blood
35075 Neuroblastoma
948 Other
(also 2277 Primates bodymap)
150 bp exon
659 bp [gt-ag] intron
42 GenBank accessions
69760 RNA-seq supporting reads
13864 UHR pooled cells
9341 Brain
2316 Blood
43089 Neuroblastoma
1150 Other
(also 2641 Primates bodymap)
97 bp exon
730 bp [gt-ag] intron
33 GenBank accessions
65070 RNA-seq supporting reads
13701 UHR pooled cells
8608 Brain
2454 Blood
39210 Neuroblastoma
1097 Other
(also 3448 Primates bodymap)
106 bp exon
9568 bp [gt-ag] intron
37 GenBank accessions
52091 RNA-seq supporting reads
10572 UHR pooled cells
6268 Brain
1632 Blood
32768 Neuroblastoma
851 Other
(also 2105 Primates bodymap)
66 bp exon
445 bp [gt-ag] intron
37 GenBank accessions
62282 RNA-seq supporting reads
11609 UHR pooled cells
7445 Brain
2616 Blood
39576 Neuroblastoma
1036 Other
(also 2549 Primates bodymap)
81 bp exon
1014 bp [gt-ag] intron
41 GenBank accessions
88218 RNA-seq supporting reads
16602 UHR pooled cells
11395 Brain
2011 Blood
56871 Neuroblastoma
1339 Other
(also 2686 Primates bodymap)
171 bp exon
2531 bp [gt-ag] intron
43 GenBank accessions
63257 RNA-seq supporting reads
16375 UHR pooled cells
8101 Brain
2037 Blood
35677 Neuroblastoma
1067 Other
(also 3325 Primates bodymap)
79 bp exon
645 bp [gt-ag] intron
56 GenBank accessions
121593 RNA-seq supporting reads
24343 UHR pooled cells
15897 Brain
3327 Blood
76257 Neuroblastoma
1769 Other
(also 3739 Primates bodymap)
2112 bp exon
19 accessions, NM_001145436.1
some from amygdala (seen 3 times)
brain (2), thalamus (2)
cerebellum (once), embryonic stem cells
cell lines H1, H7, andh9 (once)
2112 bp exon
391 bp exon
743 bp [gt-ag] intron
219 GenBank accessions
47911 RNA-seq supporting reads
7787 UHR pooled cells
5447 Brain
1800 Blood
32007 Neuroblastoma
870 Other
(also 2733 Primates bodymap)
139 bp exon
139 bp exon
4813 bp [gt-ag] intron
223 GenBank accessions
53383 RNA-seq supporting reads
10236 UHR pooled cells
6798 Brain
1183 Blood
34016 Neuroblastoma
1150 Other
(also 3991 Primates bodymap)
109 bp exon
654 bp [gt-ag] intron
200 GenBank accessions
41427 RNA-seq supporting reads
7495 UHR pooled cells
5397 Brain
1341 Blood
26205 Neuroblastoma
989 Other
(also 2191 Primates bodymap)
122 bp exon
2281 bp [gt-ag] intron
117 GenBank accessions
50401 RNA-seq supporting reads
9723 UHR pooled cells
6544 Brain
2121 Blood
30965 Neuroblastoma
1048 Other
(also 2190 Primates bodymap)
97 bp exon
2951 bp [gt-ag] intron
43 GenBank accessions
60312 RNA-seq supporting reads
11355 UHR pooled cells
7574 Brain
2690 Blood
37441 Neuroblastoma
1252 Other
(also 3764 Primates bodymap)
136 bp exon
595 bp [gt-ag] intron
41 GenBank accessions
51102 RNA-seq supporting reads
8707 UHR pooled cells
6148 Brain
2070 Blood
33047 Neuroblastoma
1130 Other
(also 3336 Primates bodymap)
109 bp exon
386 bp [gt-ag] intron
39 GenBank accessions
56894 RNA-seq supporting reads
10783 UHR pooled cells
7096 Brain
1861 Blood
35994 Neuroblastoma
1160 Other
(also 2424 Primates bodymap)
119 bp exon
1344 bp [gt-ag] intron
40 GenBank accessions
62554 RNA-seq supporting reads
12086 UHR pooled cells
8133 Brain
2897 Blood
38295 Neuroblastoma
1143 Other
(also 3219 Primates bodymap)
98 bp exon
685 bp [gt-ag] intron
35 GenBank accessions
60595 RNA-seq supporting reads
11629 UHR pooled cells
7610 Brain
2434 Blood
37785 Neuroblastoma
1137 Other
(also 3274 Primates bodymap)
28 bp exon
2280 bp [gt-ag] intron
35 GenBank accessions
68628 RNA-seq supporting reads
13043 UHR pooled cells
8501 Brain
3002 Blood
42909 Neuroblastoma
1173 Other
(also 3609 Primates bodymap)
57 bp exon
1062 bp [gt-ag] intron
38 GenBank accessions
35457 RNA-seq supporting reads
6603 UHR pooled cells
4374 Brain
1176 Blood
22643 Neuroblastoma
661 Other
(also 2165 Primates bodymap)
72 bp exon
1252 bp [gt-ag] intron
40 GenBank accessions
60340 RNA-seq supporting reads
11433 UHR pooled cells
7410 Brain
2470 Blood
37917 Neuroblastoma
1110 Other
(also 2087 Primates bodymap)
51 bp exon
673 bp [gt-ag] intron
43 GenBank accessions
55563 RNA-seq supporting reads
10782 UHR pooled cells
7016 Brain
1742 Blood
35075 Neuroblastoma
948 Other
(also 2277 Primates bodymap)
150 bp exon
659 bp [gt-ag] intron
42 GenBank accessions
69760 RNA-seq supporting reads
13864 UHR pooled cells
9341 Brain
2316 Blood
43089 Neuroblastoma
1150 Other
(also 2641 Primates bodymap)
97 bp exon
730 bp [gt-ag] intron
33 GenBank accessions
65070 RNA-seq supporting reads
13701 UHR pooled cells
8608 Brain
2454 Blood
39210 Neuroblastoma
1097 Other
(also 3448 Primates bodymap)
106 bp exon
9568 bp [gt-ag] intron
37 GenBank accessions
52091 RNA-seq supporting reads
10572 UHR pooled cells
6268 Brain
1632 Blood
32768 Neuroblastoma
851 Other
(also 2105 Primates bodymap)
66 bp exon
445 bp [gt-ag] intron
37 GenBank accessions
62282 RNA-seq supporting reads
11609 UHR pooled cells
7445 Brain
2616 Blood
39576 Neuroblastoma
1036 Other
(also 2549 Primates bodymap)
81 bp exon
1014 bp [gt-ag] intron
41 GenBank accessions
88218 RNA-seq supporting reads
16602 UHR pooled cells
11395 Brain
2011 Blood
56871 Neuroblastoma
1339 Other
(also 2686 Primates bodymap)
171 bp exon
2531 bp [gt-ag] intron
43 GenBank accessions
63257 RNA-seq supporting reads
16375 UHR pooled cells
8101 Brain
2037 Blood
35677 Neuroblastoma
1067 Other
(also 3325 Primates bodymap)
79 bp exon
645 bp [gt-ag] intron
56 GenBank accessions
121593 RNA-seq supporting reads
24343 UHR pooled cells
15897 Brain
3327 Blood
76257 Neuroblastoma
1769 Other
(also 3739 Primates bodymap)
2112 bp exon
121 accessions, NM_001145437.1
some from brain (seen 20 times)
liver (12), neuroblastoma (8)
hepatocellular carcinoma
cell line (7), adenocarcinoma
cell line (5)
Validated 3' end, 3 accessions
2112 bp exon
581 bp exon
654 bp [gt-ag] intron
200 GenBank accessions
41427 RNA-seq supporting reads
7495 UHR pooled cells
5397 Brain
1341 Blood
26205 Neuroblastoma
989 Other
(also 2191 Primates bodymap)
122 bp exon
2281 bp [gt-ag] intron
117 GenBank accessions
50401 RNA-seq supporting reads
9723 UHR pooled cells
6544 Brain
2121 Blood
30965 Neuroblastoma
1048 Other
(also 2190 Primates bodymap)
97 bp exon
97 bp exon
2951 bp [gt-ag] intron
43 GenBank accessions
60312 RNA-seq supporting reads
11355 UHR pooled cells
7574 Brain
2690 Blood
37441 Neuroblastoma
1252 Other
(also 3764 Primates bodymap)
136 bp exon
595 bp [gt-ag] intron
41 GenBank accessions
51102 RNA-seq supporting reads
8707 UHR pooled cells
6148 Brain
2070 Blood
33047 Neuroblastoma
1130 Other
(also 3336 Primates bodymap)
109 bp exon
386 bp [gt-ag] intron
39 GenBank accessions
56894 RNA-seq supporting reads
10783 UHR pooled cells
7096 Brain
1861 Blood
35994 Neuroblastoma
1160 Other
(also 2424 Primates bodymap)
119 bp exon
1344 bp [gt-ag] intron
40 GenBank accessions
62554 RNA-seq supporting reads
12086 UHR pooled cells
8133 Brain
2897 Blood
38295 Neuroblastoma
1143 Other
(also 3219 Primates bodymap)
98 bp exon
685 bp [gt-ag] intron
35 GenBank accessions
60595 RNA-seq supporting reads
11629 UHR pooled cells
7610 Brain
2434 Blood
37785 Neuroblastoma
1137 Other
(also 3274 Primates bodymap)
28 bp exon
2280 bp [gt-ag] intron
35 GenBank accessions
68628 RNA-seq supporting reads
13043 UHR pooled cells
8501 Brain
3002 Blood
42909 Neuroblastoma
1173 Other
(also 3609 Primates bodymap)
57 bp exon
1062 bp [gt-ag] intron
38 GenBank accessions
35457 RNA-seq supporting reads
6603 UHR pooled cells
4374 Brain
1176 Blood
22643 Neuroblastoma
661 Other
(also 2165 Primates bodymap)
72 bp exon
1252 bp [gt-ag] intron
40 GenBank accessions
60340 RNA-seq supporting reads
11433 UHR pooled cells
7410 Brain
2470 Blood
37917 Neuroblastoma
1110 Other
(also 2087 Primates bodymap)
51 bp exon
673 bp [gt-ag] intron
43 GenBank accessions
55563 RNA-seq supporting reads
10782 UHR pooled cells
7016 Brain
1742 Blood
35075 Neuroblastoma
948 Other
(also 2277 Primates bodymap)
150 bp exon
659 bp [gt-ag] intron
42 GenBank accessions
69760 RNA-seq supporting reads
13864 UHR pooled cells
9341 Brain
2316 Blood
43089 Neuroblastoma
1150 Other
(also 2641 Primates bodymap)
97 bp exon
730 bp [gt-ag] intron
33 GenBank accessions
65070 RNA-seq supporting reads
13701 UHR pooled cells
8608 Brain
2454 Blood
39210 Neuroblastoma
1097 Other
(also 3448 Primates bodymap)
106 bp exon
9568 bp [gt-ag] intron
37 GenBank accessions
52091 RNA-seq supporting reads
10572 UHR pooled cells
6268 Brain
1632 Blood
32768 Neuroblastoma
851 Other
(also 2105 Primates bodymap)
66 bp exon
445 bp [gt-ag] intron
37 GenBank accessions
62282 RNA-seq supporting reads
11609 UHR pooled cells
7445 Brain
2616 Blood
39576 Neuroblastoma
1036 Other
(also 2549 Primates bodymap)
81 bp exon
1014 bp [gt-ag] intron
41 GenBank accessions
88218 RNA-seq supporting reads
16602 UHR pooled cells
11395 Brain
2011 Blood
56871 Neuroblastoma
1339 Other
(also 2686 Primates bodymap)
171 bp exon
2531 bp [gt-ag] intron
43 GenBank accessions
63257 RNA-seq supporting reads
16375 UHR pooled cells
8101 Brain
2037 Blood
35677 Neuroblastoma
1067 Other
(also 3325 Primates bodymap)
79 bp exon
645 bp [gt-ag] intron
56 GenBank accessions
121593 RNA-seq supporting reads
24343 UHR pooled cells
15897 Brain
3327 Blood
76257 Neuroblastoma
1769 Other
(also 3739 Primates bodymap)
2107 bp exon
4 accessions, some from brain (seen once)
colon normal (once), head normal (once)
capped 5' end, 1 accession
2107 bp exon
30 bp exon
132 bp [gt-ag] intron
171 GenBank accessions
19579 RNA-seq supporting reads
2795 UHR pooled cells
2575 Brain
435 Blood
13247 Neuroblastoma
527 Other
(also 614 Primates bodymap)
211 bp exon
698 bp [gt-ag] intron
1 GenBank accession
95 RNA-seq supporting reads
16 UHR pooled cells
7 Brain
3 Blood
64 Neuroblastoma
5 Other
139 bp exon
139 bp exon
4813 bp [gt-ag] intron
223 GenBank accessions
53383 RNA-seq supporting reads
10236 UHR pooled cells
6798 Brain
1183 Blood
34016 Neuroblastoma
1150 Other
(also 3991 Primates bodymap)
109 bp exon
654 bp [gt-ag] intron
200 GenBank accessions
41427 RNA-seq supporting reads
7495 UHR pooled cells
5397 Brain
1341 Blood
26205 Neuroblastoma
989 Other
(also 2191 Primates bodymap)
83 bp exon
1 accession from placenta
capped 5' end, 1 accession
83 bp exon
111 bp exon
111 bp exon
72 bp uORF
111 bp exon
111 bp exon
601 bp [gt-ag] intron
2 GenBank accessions
5387 RNA-seq supporting reads
751 UHR pooled cells
539 Brain
869 Blood
3186 Neuroblastoma
42 Other
(also 80 Primates bodymap)
1385 bp exon
1385 bp exon
1385 bp exon
645 bp [gt-ag] intron
56 GenBank accessions
121593 RNA-seq supporting reads
24343 UHR pooled cells
15897 Brain
3327 Blood
76257 Neuroblastoma
1769 Other
(also 3739 Primates bodymap)
103 accessions, some from prostate (seen 19 times)
lung (15), brain (8)
eye (8), metastatic chondrosarcoma (5)
Validated 3' end, 43 accessions
2111 bp exon
40 bp exon
40 bp exon
132 bp [gt-ag] intron
171 GenBank accessions
19579 RNA-seq supporting reads
2795 UHR pooled cells
2575 Brain
435 Blood
13247 Neuroblastoma
527 Other
(also 614 Primates bodymap)
166 bp exon
743 bp [gt-ag] intron
219 GenBank accessions
47911 RNA-seq supporting reads
7787 UHR pooled cells
5447 Brain
1800 Blood
32007 Neuroblastoma
870 Other
(also 2733 Primates bodymap)
372 bp exon
1 accession from brain
372 bp exon
236 bp exon
236 bp exon
236 bp exon
2951 bp [gt-ag] intron
43 GenBank accessions
60312 RNA-seq supporting reads
11355 UHR pooled cells
7574 Brain
2690 Blood
37441 Neuroblastoma
1252 Other
(also 3764 Primates bodymap)
1 accession
30 bp exon
75 bp exon
75 bp exon
730 bp [gt-ag] intron
33 GenBank accessions
65070 RNA-seq supporting reads
13701 UHR pooled cells
8608 Brain
2454 Blood
39210 Neuroblastoma
1097 Other
(also 3448 Primates bodymap)
106 bp exon
9568 bp [gt-ag] intron
37 GenBank accessions
52091 RNA-seq supporting reads
10572 UHR pooled cells
6268 Brain
1632 Blood
32768 Neuroblastoma
851 Other
(also 2105 Primates bodymap)
66 bp exon
445 bp [gt-ag] intron
37 GenBank accessions
62282 RNA-seq supporting reads
11609 UHR pooled cells
7445 Brain
2616 Blood
39576 Neuroblastoma
1036 Other
(also 2549 Primates bodymap)
81 bp exon
1014 bp [gt-ag] intron
41 GenBank accessions
88218 RNA-seq supporting reads
16602 UHR pooled cells
11395 Brain
2011 Blood
56871 Neuroblastoma
1339 Other
(also 2686 Primates bodymap)
171 bp exon
2531 bp [gt-ag] intron
43 GenBank accessions
63257 RNA-seq supporting reads
16375 UHR pooled cells
8101 Brain
2037 Blood
35677 Neuroblastoma
1067 Other
(also 3325 Primates bodymap)
79 bp exon
3059 bp [gt-ag] intron
3 GenBank accessions
512 RNA-seq supporting reads
118 UHR pooled cells
3 Brain
26 Blood
365 Neuroblastoma
(also 4 Primates bodymap)
348 bp exon
2 accessions, some from embryonic stem cells
embryoid bodiesderived from H1
H7 and H9 cells (seen once)
endometrium, adenocarcinoma cell line (once)
uterus (once)
348 bp exon
87 bp exon
87 bp exon
85 bp [gt-ag] intron
10 GenBank accessions
707 RNA-seq supporting reads
147 UHR pooled cells
52 Brain
8 Blood
483 Neuroblastoma
17 Other
166 bp exon
743 bp [gt-ag] intron
219 GenBank accessions
47911 RNA-seq supporting reads
7787 UHR pooled cells
5447 Brain
1800 Blood
32007 Neuroblastoma
870 Other
(also 2733 Primates bodymap)
139 bp exon
4813 bp [gt-ag] intron
223 GenBank accessions
53383 RNA-seq supporting reads
10236 UHR pooled cells
6798 Brain
1183 Blood
34016 Neuroblastoma
1150 Other
(also 3991 Primates bodymap)
109 bp exon
654 bp [gt-ag] intron
200 GenBank accessions
41427 RNA-seq supporting reads
7495 UHR pooled cells
5397 Brain
1341 Blood
26205 Neuroblastoma
989 Other
(also 2191 Primates bodymap)
122 bp exon
2281 bp [gt-ag] intron
117 GenBank accessions
50401 RNA-seq supporting reads
9723 UHR pooled cells
6544 Brain
2121 Blood
30965 Neuroblastoma
1048 Other
(also 2190 Primates bodymap)
97 bp exon
2900 bp [gt-ag] intron
1 GenBank accession
26 bp exon
9 accessions, some from brain (seen once)
embryonic stem cells
cell lines H1, H7, andh9 (once)
hippocampus (once), lung (once)
prostate (once)
capped 5' end, 5 accessions
26 bp exon
369 bp exon
369 bp exon
369 bp exon
902 bp [gt-ag] intron
1 GenBank accession
1616 RNA-seq supporting reads
207 UHR pooled cells
200 Brain
175 Blood
1005 Neuroblastoma
29 Other
(also 14 Primates bodymap)
1 accession from thalamus
capped 5' end, 1 accession
159 bp exon
7 bp exon
204 bp [gc-ag] fuzzy intron
1 GenBank accession
97 bp exon
97 bp exon
730 bp [gt-ag] intron
33 GenBank accessions
65070 RNA-seq supporting reads
13701 UHR pooled cells
8608 Brain
2454 Blood
39210 Neuroblastoma
1097 Other
(also 3448 Primates bodymap)
106 bp exon
9568 bp [gt-ag] intron
37 GenBank accessions
52091 RNA-seq supporting reads
10572 UHR pooled cells
6268 Brain
1632 Blood
32768 Neuroblastoma
851 Other
(also 2105 Primates bodymap)
66 bp exon
445 bp [gt-ag] intron
37 GenBank accessions
62282 RNA-seq supporting reads
11609 UHR pooled cells
7445 Brain
2616 Blood
39576 Neuroblastoma
1036 Other
(also 2549 Primates bodymap)
81 bp exon
1014 bp [gt-ag] intron
41 GenBank accessions
88218 RNA-seq supporting reads
16602 UHR pooled cells
11395 Brain
2011 Blood
56871 Neuroblastoma
1339 Other
(also 2686 Primates bodymap)
2781 bp exon
2781 bp exon
645 bp [gt-ag] intron
56 GenBank accessions
121593 RNA-seq supporting reads
24343 UHR pooled cells
15897 Brain
3327 Blood
76257 Neuroblastoma
1769 Other
(also 3739 Primates bodymap)
160 bp exon
2254 bp [gt-ag] intron
4 GenBank accessions
5955 RNA-seq supporting reads
625 UHR pooled cells
968 Brain
189 Blood
4120 Neuroblastoma
53 Other
(also 3 Primates bodymap)
76 accessions, some from brain (seen 14 times)
cerebellum (11), hippocampus (10)
thalamus (9), thymus (8)
capped 5' end, 67 accessions
371 bp exon
269 bp exon
269 bp exon
24 bp uORF
269 bp exon
743 bp [gt-ag] intron
219 GenBank accessions
47911 RNA-seq supporting reads
7787 UHR pooled cells
5447 Brain
1800 Blood
32007 Neuroblastoma
870 Other
(also 2733 Primates bodymap)
139 bp exon
139 bp exon
139 bp exon
4813 bp [gt-ag] intron
223 GenBank accessions
53383 RNA-seq supporting reads
10236 UHR pooled cells
6798 Brain
1183 Blood
34016 Neuroblastoma
1150 Other
(also 3991 Primates bodymap)
109 bp exon
109 bp exon
654 bp [gt-ag] intron
200 GenBank accessions
41427 RNA-seq supporting reads
7495 UHR pooled cells
5397 Brain
1341 Blood
26205 Neuroblastoma
989 Other
(also 2191 Primates bodymap)
122 bp exon
122 bp exon
5329 bp [gt-ag] intron
2 GenBank accessions
1460 RNA-seq supporting reads
92 UHR pooled cells
166 Brain
96 Blood
1088 Neuroblastoma
18 Other
(also 158 Primates bodymap)
33 bp exon
33 bp exon
2 accessions, some from brain (seen once)
hippocampus (once)
33 bp exon
533 bp exon
533 bp exon
585 bp [gc-ag] intron
1 GenBank accession
814 RNA-seq supporting reads
64 UHR pooled cells
80 Brain
406 Blood
257 Neuroblastoma
7 Other
(also 35 Primates bodymap)
53 bp exon
1 accession from trachea
capped 5' end, 1 accession
53 bp exon
338 bp exon
338 bp exon
743 bp [gt-ag] intron
219 GenBank accessions
47911 RNA-seq supporting reads
7787 UHR pooled cells
5447 Brain
1800 Blood
32007 Neuroblastoma
870 Other
(also 2733 Primates bodymap)
139 bp exon
139 bp exon
7979 bp [gt-ag] intron
1 GenBank accession
313 RNA-seq supporting reads
32 UHR pooled cells
45 Brain
28 Blood
200 Neuroblastoma
8 Other
(also 5 Primates bodymap)
1 accession from brain
capped 5' end, 1 accession
74 bp exon
64 bp exon
64 bp exon
10079 bp [gt-ag] intron
2 GenBank accessions
2357 RNA-seq supporting reads
653 UHR pooled cells
359 Brain
49 Blood
1263 Neuroblastoma
33 Other
(also 1 Primates bodymap)
81 bp exon
1014 bp [gt-ag] intron
41 GenBank accessions
88218 RNA-seq supporting reads
16602 UHR pooled cells
11395 Brain
2011 Blood
56871 Neuroblastoma
1339 Other
(also 2686 Primates bodymap)
171 bp exon
2531 bp [gt-ag] intron
43 GenBank accessions
63257 RNA-seq supporting reads
16375 UHR pooled cells
8101 Brain
2037 Blood
35677 Neuroblastoma
1067 Other
(also 3325 Primates bodymap)
79 bp exon
645 bp [gt-ag] intron
56 GenBank accessions
121593 RNA-seq supporting reads
24343 UHR pooled cells
15897 Brain
3327 Blood
76257 Neuroblastoma
1769 Other
(also 3739 Primates bodymap)
169 bp exon
2 accessions, some from human embryonic stem cells differentiated toan early endodermal cell type (seen once)
liver and spleen (once)
169 bp exon
77 bp exon
77 bp exon
85 bp [gt-ag] intron
10 GenBank accessions
707 RNA-seq supporting reads
147 UHR pooled cells
52 Brain
8 Blood
483 Neuroblastoma
17 Other
166 bp exon
743 bp [gt-ag] intron
219 GenBank accessions
47911 RNA-seq supporting reads
7787 UHR pooled cells
5447 Brain
1800 Blood
32007 Neuroblastoma
870 Other
(also 2733 Primates bodymap)
139 bp exon
4813 bp [gt-ag] intron
223 GenBank accessions
53383 RNA-seq supporting reads
10236 UHR pooled cells
6798 Brain
1183 Blood
34016 Neuroblastoma
1150 Other
(also 3991 Primates bodymap)
76 bp exon
687 bp [gt-ag] intron
21 GenBank accessions
2805 RNA-seq supporting reads
604 UHR pooled cells
352 Brain
174 Blood
1613 Neuroblastoma
62 Other
(also 18 Primates bodymap)
14 bp exon
1 accession
capped 5' end, 1 accession
14 bp exon
670 bp exon
670 bp exon
1 accession from embryonal carcinoma
cell line from testis
670 bp exon
350 bp exon
350 bp exon
1 accession from placenta
capped 5' end, 1 accession
350 bp exon
30 bp exon
30 bp exon
132 bp [gt-ag] intron
171 GenBank accessions
19579 RNA-seq supporting reads
2795 UHR pooled cells
2575 Brain
435 Blood
13247 Neuroblastoma
527 Other
(also 614 Primates bodymap)
166 bp exon
743 bp [gt-ag] intron
219 GenBank accessions
47911 RNA-seq supporting reads
7787 UHR pooled cells
5447 Brain
1800 Blood
32007 Neuroblastoma
870 Other
(also 2733 Primates bodymap)
139 bp exon
3997 bp [gt-ag] intron
1 GenBank accession
35 RNA-seq supporting reads
2 UHR pooled cells
13 Brain
1 Blood
19 Neuroblastoma
108 bp exon
108 bp exon
312 bp [gt-ag] intron
1 GenBank accession
4 RNA-seq supporting reads
1 Brain
3 Neuroblastoma
(also 1 Primates bodymap)
1 accession from brain
capped 5' end, 1 accession
110 bp exon
159 bp exon
159 bp exon
231 bp uORF
136 bp exon
231 bp uORF
136 bp exon
136 bp exon
595 bp [gt-ag] intron
41 GenBank accessions
51102 RNA-seq supporting reads
8707 UHR pooled cells
6148 Brain
2070 Blood
33047 Neuroblastoma
1130 Other
(also 3336 Primates bodymap)
109 bp exon
109 bp exon
386 bp [gt-ag] intron
39 GenBank accessions
56894 RNA-seq supporting reads
10783 UHR pooled cells
7096 Brain
1861 Blood
35994 Neuroblastoma
1160 Other
(also 2424 Primates bodymap)
119 bp exon
119 bp exon
1344 bp [gt-ag] intron
40 GenBank accessions
62554 RNA-seq supporting reads
12086 UHR pooled cells
8133 Brain
2897 Blood
38295 Neuroblastoma
1143 Other
(also 3219 Primates bodymap)
40 bp exon
40 bp exon
3 accessions, some from testis (seen 3 times)
capped 5' end, 3 accessions
40 bp exon
66 bp exon
4173 bp [gt-ag] intron
1 GenBank accession
1457 RNA-seq supporting reads
90 UHR pooled cells
232 Brain
135 Blood
986 Neuroblastoma
14 Other
(also 12 Primates bodymap)
66 bp exon
445 bp [gt-ag] intron
37 GenBank accessions
62282 RNA-seq supporting reads
11609 UHR pooled cells
7445 Brain
2616 Blood
39576 Neuroblastoma
1036 Other
(also 2549 Primates bodymap)
81 bp exon
81 bp exon
1014 bp [gt-ag] intron
41 GenBank accessions
88218 RNA-seq supporting reads
16602 UHR pooled cells
11395 Brain
2011 Blood
56871 Neuroblastoma
1339 Other
(also 2686 Primates bodymap)
171 bp exon
2531 bp [gt-ag] intron
43 GenBank accessions
63257 RNA-seq supporting reads
16375 UHR pooled cells
8101 Brain
2037 Blood
35677 Neuroblastoma
1067 Other
(also 3325 Primates bodymap)
79 bp exon
645 bp [gt-ag] intron
56 GenBank accessions
121593 RNA-seq supporting reads
24343 UHR pooled cells
15897 Brain
3327 Blood
76257 Neuroblastoma
1769 Other
(also 3739 Primates bodymap)
160 bp exon
160 bp exon
2254 bp [gt-ag] intron
4 GenBank accessions
5955 RNA-seq supporting reads
625 UHR pooled cells
968 Brain
189 Blood
4120 Neuroblastoma
53 Other
(also 3 Primates bodymap)
2 accessions, some from eye (seen once)
human retina (once)
Validated 3' end, 2 accessions
375 bp exon
255 bp exon
255 bp exon
6458 bp [gt-ag] intron
1 GenBank accession
11 RNA-seq supporting reads
2 Brain
4 Blood
5 Neuroblastoma
(also 4 Primates bodymap)
122 bp exon
2281 bp [gt-ag] intron
117 GenBank accessions
50401 RNA-seq supporting reads
9723 UHR pooled cells
6544 Brain
2121 Blood
30965 Neuroblastoma
1048 Other
(also 2190 Primates bodymap)
82 bp exon
1 accession from hippocampus
capped 5' end, 1 accession
82 bp exon
285 bp exon
285 bp exon
3059 bp [gt-ag] intron
3 GenBank accessions
512 RNA-seq supporting reads
118 UHR pooled cells
3 Brain
26 Blood
365 Neuroblastoma
(also 4 Primates bodymap)
375 bp exon
1 accession from cell lines from chondrosarcoma
Validated 3' end, 1 accession
375 bp exon
207 bp exon
743 bp [gt-ag] intron
219 GenBank accessions
47911 RNA-seq supporting reads
7787 UHR pooled cells
5447 Brain
1800 Blood
32007 Neuroblastoma
870 Other
(also 2733 Primates bodymap)
139 bp exon
139 bp exon
4813 bp [gt-ag] intron
223 GenBank accessions
53383 RNA-seq supporting reads
10236 UHR pooled cells
6798 Brain
1183 Blood
34016 Neuroblastoma
1150 Other
(also 3991 Primates bodymap)
76 bp exon
687 bp [gt-ag] intron
21 GenBank accessions
2805 RNA-seq supporting reads
604 UHR pooled cells
352 Brain
174 Blood
1613 Neuroblastoma
62 Other
(also 18 Primates bodymap)
122 bp exon
2281 bp [gt-ag] intron
117 GenBank accessions
50401 RNA-seq supporting reads
9723 UHR pooled cells
6544 Brain
2121 Blood
30965 Neuroblastoma
1048 Other
(also 2190 Primates bodymap)
1 accession from amygdala
capped 5' end, 1 accession
11 bp exon
77 bp exon
77 bp exon
85 bp [gt-ag] intron
10 GenBank accessions
707 RNA-seq supporting reads
147 UHR pooled cells
52 Brain
8 Blood
483 Neuroblastoma
17 Other
166 bp exon
8861 bp [gt-ag] intron
1 GenBank accession
12 RNA-seq supporting reads
2 UHR pooled cells
10 Neuroblastoma
97 bp exon
2951 bp [gt-ag] intron
43 GenBank accessions
60312 RNA-seq supporting reads
11355 UHR pooled cells
7574 Brain
2690 Blood
37441 Neuroblastoma
1252 Other
(also 3764 Primates bodymap)
136 bp exon
136 bp exon
595 bp [gt-ag] intron
41 GenBank accessions
51102 RNA-seq supporting reads
8707 UHR pooled cells
6148 Brain
2070 Blood
33047 Neuroblastoma
1130 Other
(also 3336 Primates bodymap)
1 accession
capped 5' end, 1 accession
73 bp exon
170 bp exon
170 bp exon
445 bp [gt-ag] intron
37 GenBank accessions
62282 RNA-seq supporting reads
11609 UHR pooled cells
7445 Brain
2616 Blood
39576 Neuroblastoma
1036 Other
(also 2549 Primates bodymap)
81 bp exon
1 accession from carcinoid from lung
81 bp exon
518 bp exon
518 bp exon
1 accession from thalamus
capped 5' end, 1 accession
518 bp exon
362 bp exon
362 bp exon
595 bp [gt-ag] intron
41 GenBank accessions
51102 RNA-seq supporting reads
8707 UHR pooled cells
6148 Brain
2070 Blood
33047 Neuroblastoma
1130 Other
(also 3336 Primates bodymap)
109 bp exon
386 bp [gt-ag] intron
39 GenBank accessions
56894 RNA-seq supporting reads
10783 UHR pooled cells
7096 Brain
1861 Blood
35994 Neuroblastoma
1160 Other
(also 2424 Primates bodymap)
73 bp exon
1 accession from testis
capped 5' end, 1 accession
73 bp exon
49 bp exon
49 bp exon
132 bp [gt-ag] intron
171 GenBank accessions
19579 RNA-seq supporting reads
2795 UHR pooled cells
2575 Brain
435 Blood
13247 Neuroblastoma
527 Other
(also 614 Primates bodymap)
166 bp exon
743 bp [gt-ag] intron
219 GenBank accessions
47911 RNA-seq supporting reads
7787 UHR pooled cells
5447 Brain
1800 Blood
32007 Neuroblastoma
870 Other
(also 2733 Primates bodymap)
84 bp exon
17998 bp [gc-ag] intron
1 GenBank accession
55 bp exon
55 bp exon
1252 bp [gt-ag] intron
40 GenBank accessions
60340 RNA-seq supporting reads
11433 UHR pooled cells
7410 Brain
2470 Blood
37917 Neuroblastoma
1110 Other
(also 2087 Primates bodymap)
51 bp exon
673 bp [gt-ag] intron
43 GenBank accessions
55563 RNA-seq supporting reads
10782 UHR pooled cells
7016 Brain
1742 Blood
35075 Neuroblastoma
948 Other
(also 2277 Primates bodymap)
150 bp exon
659 bp [gt-ag] intron
42 GenBank accessions
69760 RNA-seq supporting reads
13864 UHR pooled cells
9341 Brain
2316 Blood
43089 Neuroblastoma
1150 Other
(also 2641 Primates bodymap)
1 accession from caudate nucleus
capped 5' end, 1 accession
9 bp exon
942 bp exon
942 bp exon
1014 bp [gt-ag] intron
41 GenBank accessions
88218 RNA-seq supporting reads
16602 UHR pooled cells
11395 Brain
2011 Blood
56871 Neuroblastoma
1339 Other
(also 2686 Primates bodymap)
102 bp exon
15 accessions, some from nervous normal (seen 9 times)
hippocampus (2), testis (2)
amygdala (once), uterus (once)
capped 5' end, 5 accessions
102 bp exon
623 bp exon
623 bp exon
2 accessions, some from epidermoid carcinoma
cell line (seen once)
placenta normal (once)
salivary gland (once)
Validated 3' end, 1 accession
623 bp exon
Alternative mRNAs are shown aligned from 5' to 3' on a virtual genome where introns have been shrunk to a minimal length. Exon size is proportional to length, intron height reflects the number of cDNAs supporting each intron, the small numbers show the support of the introns in deep sequencing (with details in mouse-over) . Introns of the same color are identical, of different colors are different. 'Good proteins' are pink, partial or not-good proteins are yellow, uORFs are green. 5' cap or3' poly A flags show completeness of the transcript.
Read more...
Mouse over the ending of each transcript gives tissues from which the supporting cDNAs were extracted. Details on tissue of origin for each intron and exon is available from the
intron and exons table .
Click on any transcript to open the specific mRNA page, to see the exact cDNA clone support and eventual SNPs and to get details on tissues, sequences, mRNA and protein annotations. Proteins supported by a single continuous cDNA sequence lead to underlining the name/ending of the variant. Names not underlined result from cDNA concatenation in the coding region and should be experimentally checked.
Introns are depicted by broken lines; the height of the top of each intron reflects the relative number of clones supporting this intron.
]^[ A pink broken line denotes an intron with standard boundaries (gt-ag or gc-ag) that is exactly supported (i.e. a cDNA sequence exactly matches the genome over 16 bp, 8 on both sides of the intron).
] ^ ] A blue broken line denotes non-standard introns, exactly supported, but with non-standard at-ac or any other boundaries.
]-[ Pink and
] - ] blue straight lines represent 'fuzzy' introns of the standard and non-standard types respectively, those introns do not follow the 16 bp rule. Black straight lines ]-[denote gaps in the alignments.
Exons: Wide filled pink areas represent putative protein coding regions, narrow empty pink boxes represent the 5'UTR (on the left) and 3' UTR (on the right). Flags identify validated endings: cap site on the 5' side, polyadenylation site on the 3' side. Filled flags correspond to frequent events while empty flags have lesser supporting cDNAs (yet all are validated); at the 3' side, black flags are associated to the main AATAAA signal,
blue flags to any single letter variant of the main . More explanations are given in the
gene help file
Sequences: click on the numbers to get the DNA
Gene neighbors and Navigator on chromosome 21q22.3
COL6A2
D
C
I
R
P
R
R
R
R
MCM3APAS
R
P
R
C21orf57
C
R
P
D
C
I
R
P
FTCD
C
I
R
P
C21orf56
D
C
R
P
LSS
D
C
I
R
P
MCM3AP
R
10
20kb
0
COL6A2, 505 accessions
13 variants
gufor, 1 accession
keytee, 2 accessions
klorley, 2 accessions
2 variants
lytee, 2 accessions, 2 variants
MCM3APAS, 93 accessions
18 variants
lutee, 3 accessions, 2 variants
C21orf57, 144 accessions
15 variants
chatu, 1 accession
dunaw, 1 accession
cheetu, 1 accession
borsobo, 1 accession
chertu, 1 accession
chortu, 1 accession
soyuri, 1 accession
sloykoybu, 5 accessions
shutu, 1 accession
shotu, 1 accession
shartu, 1 accession
sheetu, 1 accession
gawnaw, 1 accession
janaw, 1 accession
seygo, 1 accession
smakoybu, 1 accession
kynaw, 1 accession
bleetu, 1 accession
bleytu, 1 accession
tugo, 3 accessions
tergo, 2 accessions
flawreybu, 2 accessions
worrorbu, 1 accession
fleytu, 1 accession
jeegey, 8 accessions
vogo, 2 accessions
glertu, 2 accessions
vergo, 4 accessions
glortu, 1 accession
moynaw, 1 accession
punaw, 1 accession
bernaw, 1 accession
zotu, 1 accession
sawgo, 1 accession
kertee, 3 accessions
peesobo, 1 accession
chawtu, 2 accessions
darnaw, 1 accession
sleykoybu, 2 accessions
kleyver, 2 accessions
shertu, 1 accession
tago, 1 accession
kanaw, 1 accession
shoybar, 1 accession
shoytu, 3 accessions
blartu, 1 accession
lynaw, 1 accession
klorver, 2 accessions
rawjoy, 1 accession
fleetu, 1 accession
floytu, 1 accession
mornaw, 1 accession
veego, 3 accessions
klatu, 2 accessions
klytu, 1 accession
wago, 1 accession
FTCD, 92 accessions, 17 variants
C21orf56, 186 accessions
6 variants
LSS, 597 accessions, 33 variants
MCM3AP, 403 accessions
24 variants
jafor, 1 accession
C21orf58, 159 accessions
19 variants
ZOOM OUT
D :disease,
C :conserved,
I :interactions,
R :regulation,
P :publications
Read more...
PCBP3
D
C
I
R
P
P
P
COL6A1
D
C
I
R
P
COL6A2
D
C
I
R
P
R
R
R
R
MCM3APAS
R
P
R
C21orf57
C
R
P
P
PCNT
D
C
I
R
P
C
DIP2A
C
I
R
P
PRMT2
C
I
R
P
RPL23AP4
G
D
C
I
R
P
FTCD
C
I
R
P
C21orf56
D
C
R
P
LSS
D
C
I
R
P
MCM3AP
R
C
R
P
C21orf58
R
G
R
C
D
C
I
R
P
S100B
R
100kb
0
PCBP3, 197 accessions
27 variants
klerdawbu, 1 accession
kanira, 1 accession
COL6A1, 443 accessions
11 variants
COL6A2, 505 accessions
13 variants
gufor, 1 accession
keytee, 2 accessions
klorley, 2 accessions
2 variants
lytee, 2 accessions, 2 variants
MCM3APAS, 93 accessions
18 variants
lutee, 3 accessions, 2 variants
C21orf57, 144 accessions
15 variants
manaru, 1 accession
PCNT, 248 accessions, 27 variants
reenaw, 1 accession
DIP2A, 302 accessions
27 variants
PRMT2, 819 accessions
32 variants
slorspeyby, 1 accession
yonaru, 2 accessions
gydawbu, 1 accession
nydawbu, 1 accession
sunira, 1 accession
gortu, 1 accession
slunar, 1 accession
sneenar, 1 accession
kotu, 1 accession
jutee, 3 accessions, 2 variants
seedawbu, 1 accession
keytu, 1 accession
sponar, 1 accession
sonira, 3 accessions
loytu, 1 accession
poygo, 2 accessions
glordawbu, 1 accession
meytu, 3 accessions
rugo, 1 accession
teyuri, 2 accessions, 2 variants
klawdawbu, 1 accession
nertu, 3 accessions
nortu, 1 accession
pladawbu, 1 accession
partu, 1 accession
pertu, 1 accession
kenira, 1 accession
klyver, 1 accession
sortu, 2 accessions
korbaw, 1 accession
kluver, 4 accessions
toytu, 2 accessions
wukoybu, 1 accession
wawkoybu, 1 accession
skorkoybu, 1 accession
kytee, 6 accessions
fojoy, 3 accessions
kotee, 1 accession
klover, 1 accession
slarkoybu, 1 accession
chatu, 1 accession
dunaw, 1 accession
cheetu, 1 accession
borsobo, 1 accession
chertu, 1 accession
chortu, 1 accession
soyuri, 1 accession
sloykoybu, 5 accessions
shutu, 1 accession
shotu, 1 accession
shartu, 1 accession
sheetu, 1 accession
gawnaw, 1 accession
janaw, 1 accession
seygo, 1 accession
smakoybu, 1 accession
kynaw, 1 accession
bleetu, 1 accession
bleytu, 1 accession
tugo, 3 accessions
tergo, 2 accessions
flawreybu, 2 accessions
worrorbu, 1 accession
fleytu, 1 accession
jeegey, 8 accessions
vogo, 2 accessions
glertu, 2 accessions
vergo, 4 accessions
glortu, 1 accession
moynaw, 1 accession
punaw, 1 accession
platu, 1 accession
pleetu, 3 accessions
skutu, 1 accession
skartu, 1 accession
zeyrorbu, 1 accession
smartu, 2 accessions
smoytu, 2 accessions
sunaw, 1 accession
snertu, 1 accession
spatu, 2 accessions
zoyrorbu, 2 accessions
keyuri, 3 accessions, 2 variants
spoytu, 1 accession
plarver, 4 accessions
stytu, 1 accession
persobo, 2 accessions
charrorbu, 1 accession
sawnaw, 1 accession
stawtu, 1 accession
steytu, 2 accessions
cherrorbu, 1 accession
seenaw, 1 accession
tynaw, 4 accessions
swutu, 1 accession
cheyrorbu, 1 accession
swawtu, 1 accession
pleever, 2 accessions
runura, 2 accessions
yanura, 1 accession
wergo, 2 accessions
sharorbu, 1 accession
teenaw, 1 accession
tumari, 7 accessions
bato, 1 accession
plorver, 2 accessions
shawrorbu, 2 accessions
mutee, 2 accessions
sheerorbu, 1 accession
flawnaw, 3 accessions
deeto, 1 accession
sheyrorbu, 3 accessions
fyto, 3 accessions
smyjoy, 4 accessions
fertu, 1 accession
fortu, 1 accession
smyspeyby, 1 accession
pawsobo, 1 accession
jertu, 1 accession
jeytu, 1 accession
spanar, 1 accession
joytu, 1 accession
todawbu, 1 accession
jartee, 17 accessions
vudawbu, 1 accession
keetu, 2 accessions
spunar, 1 accession
gleydawbu, 1 accession
nawtu, 1 accession
kludawbu, 1 accession
klardawbu, 1 accession
rergo, 1 accession
kleydawbu, 1 accession
kloydawbu, 1 accession
noytu, 1 accession
pytu, 1 accession
plerdawbu, 1 accession
poytu, 1 accession
rartu, 1 accession
rortu, 3 accessions
sutu, 1 accession
sakoybu, 1 accession
tertu, 3 accessions
vatu, 1 accession
vartu, 1 accession
wotu, 3 accessions
skoykoybu, 2 accessions
sago, 1 accession
slukoybu, 2 accessions
klarver, 2 accessions
zytu, 3 accessions
bernaw, 1 accession
zotu, 1 accession
sawgo, 1 accession
kertee, 3 accessions
peesobo, 1 accession
chawtu, 2 accessions
darnaw, 1 accession
sleykoybu, 2 accessions
kleyver, 2 accessions
shertu, 1 accession
tago, 1 accession
kanaw, 1 accession
shoybar, 1 accession
shoytu, 3 accessions
blartu, 1 accession
lynaw, 1 accession
klorver, 2 accessions
rawjoy, 1 accession
fleetu, 1 accession
floytu, 1 accession
mornaw, 1 accession
veego, 3 accessions
klatu, 2 accessions
klytu, 1 accession
wago, 1 accession
klawtu, 1 accession
kleetu, 1 accession
konira, 1 accession
peynaw, 2 accessions
plertu, 1 accession
skeetu, 2 accessions
skeytu, 1 accession
skortu, 1 accession
slotu, 1 accession
sleytu, 1 accession
smotu, 1 accession
rernaw, 1 accession
smortu, 1 accession
reynaw, 1 accession
wanura, 1 accession
sneytu, 2 accessions
karsy, 15 accessions
charorbu, 1 accession
chyrorbu, 1 accession
stutu, 1 accession
chawrorbu, 2 accessions
stotu, 1 accession
stortu, 2 accessions
swytu, 1 accession
wargo, 1 accession
chorrorbu, 1 accession
plawver, 2 accessions
sweetu, 1 accession
swertu, 1 accession
sweytu, 2 accessions
pleyver, 2 accessions
zoybley, 15 accessions
yayori, 4 accessions
swoytu, 2 accessions
buto, 2 accessions
voynaw, 1 accession
chernaw, 1 accession
bawto, 2 accessions
zergo, 1 accession
sherrorbu, 1 accession
dato, 1 accession
deyto, 1 accession
zoygo, 1 accession
martee, 3 accessions
LOC100129027, 3 accessions
FTCD, 92 accessions, 17 variants
C21orf56, 186 accessions
6 variants
LSS, 597 accessions, 33 variants
MCM3AP, 403 accessions
24 variants
jafor, 1 accession
C21orf58, 159 accessions
19 variants
lawtee, 2 accessions
LOC100288604, 6 accessions
kosy, 17 accessions, 2 variants
sharrorbu, 3 accessions
S100B, 399 accessions
9 variants
plawley, 2 accessions
ZOOM IN
D :disease,
C :conserved,
I :interactions,
R :regulation,
P :publications
Read more...
Annotated mRNA diagrams
The mRNAs diagrams with the aligned cDNA sequence accessions and their mismatches are available in the mRNA pages accessible from the tab at the top of the page, or here:
In Flash:
.vk , .b , .l , .d , .f , .j , .c , .h , .a , .vb , .vd-u , .e , .t , .o , .vf , .q , .vi-u , .vh , .g , .k , .vl , .r , .vc-u , .u , .m , .vg , .vj-u , .ve , .s , .va , .n , .i , .p .
or in GIF:
.vk , .b , .l , .d , .f , .j , .c , .h , .a , .vb , .vd-u , .e , .t , .o , .vf , .q , .vi-u , .vh , .g , .k , .vl , .r , .vc-u , .u , .m , .vg , .vj-u , .ve , .s , .va , .n , .i , .p
Bibliography:   16 articles in PubMed
? Gene Summary
Gene on genome
mRNA: .a , .b , .c , .d , .e , .f , .g , .h , .i , .j , .k , .l , .m , .n , .o , .p , .q , .r , .s , .t , .u , .va , .vb , .vc-u , .vd-u , .ve , .vf , .vg , .vh , .vi-u , .vj-u , .vk , .vl
Alternative mRNAs features, proteins, introns, exons, sequences
Expression Tissue
Function, regulation, related genes D C
To
mine knowledge about the gene, please click the
'Gene Summary' or the
'Function, regulation, related genes ' tab at the top of the page. The
'Gene Summary' page includes all we learnt about the gene, functional annotations of neighboring genes, maps, links to other sites and the bibliography. The
'Function, regulation, related genes ' page includes Diseases (D), Pathways, GO annotations, conserved domains (C), interactions (I) reference into function, and pointers to all genes with the same functional annotation.
To
compare alternative variants , their summarized annotations, predicted proteins, introns and exons, or to access any sequence, click the
'Alternative mRNAs features' tab. To see a
specific mRNA variant diagram, sequence and annotation, click the variant name in the
'mRNA' tab. To examine
expression data from all cDNAs clustered in this gene by AceView, click the
'Expression tissue' .
If you know more about this gene, or found errors, please
share your knowledge. Thank you !