Homo sapiens complex locus LSS, encoding lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase).
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SUMMARY back to top
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)
RNA_seq discoveries back to top
Expression/conservation in primates tissues evaluated by cross-mapping to human. back to top
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 = log2(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!.
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          Complete gene on genome diagram: back to top
Please choose between the zoomable GIF version., and the HTML5/SVG version.
This diagram shows in true scale the gene on the genome, the mRNAs and the cDNA clones.
Compact gene diagram back to top
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.
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Sequences: click on the numbers to get the DNA back to top
mRNA variant mRNA matching the genome Best predicted protein 5' UTR 3' UTR uORF Upstream sequence Transcription
unit
pre-mRNA
Downstream sequence
aAug10 4258 bp 732 aa 79 bp 1980 bp 2kb including Promoter 39701 bp 1kb
bAug10 3841 bp 732 aa 79 bp 1563 bp 2kb including Promoter 41528 bp 1kb
cAug10 4225 bp 721 aa 79 bp 1980 bp 2kb possibly including promoter 39701 bp 1kb
dAug10 4390 bp 652 aa 451 bp 1980 bp 2kb possibly including promoter 39701 bp 1kb
eAug10 4327 bp 605 aa 795 bp 1975 bp 2kb including Promoter 34082 bp 1kb
fAug10 3607 bp 279 aa 89 bp 2678 bp 69 bp 2kb possibly including promoter 4853 bp 1kb
gAug10 926 bp 271 aa 108 bp 2kb 18273 bp 1kb
hAug10 746 bp 220 aa 70 bp 13 bp 2kb including Promoter 12222 bp 1kb
iAug10 586 bp 181 aa 41 bp 2kb including Promoter 1171 bp 1kb
jAug10 3669 bp 178 aa 16 bp 3116 bp 2kb including Promoter 18529 bp 1kb
kAug10 564 bp 174 aa 37 bp 2kb 14833 bp 1kb
lAug10 578 bp 170 aa 26 bp 39 bp 2kb probably including promoter 1453 bp 1kb
mAug10 472 bp 137 aa 60 bp 2kb including Promoter 6800 bp 1kb
nAug10 998 bp 134 aa 190 bp 403 bp 2kb possibly including promoter 12060 bp 1kb
oAug10 553 bp 132 aa 16 bp 138 bp 2kb including Promoter 5737 bp 1kb
pAug10 660 bp 118 aa 168 bp 135 bp 2kb possibly including promoter 3719 bp 1kb
qAug10 459 bp 118 aa 71 bp 31 bp 2kb including Promoter 9198 bp 1kb
rAug10 672 bp 114 aa 329 bp 21 bp 2kb possibly including promoter 12211 bp 1kb
sAug10 563 bp 111 aa 229 bp 228 bp 2kb including Promoter 2957 bp 1kb
tAug10 555 bp 96 aa 267 bp 2kb including Promoter 9079 bp 1kb
uAug10 549 bp 94 aa 67 bp 197 bp 2kb including Promoter 13041 bp 1kb
vaAug10 544 bp 82 aa 296 bp 2kb including Promoter 1525 bp 1kb
vbAug10 1044 bp 60 aa 792 bp 69 bp 2kb including Promoter 2058 bp 1kb
vcAug10-unspliced 670 bp 57 aa 56 bp 440 bp 2kb 670 bp 1kb
vdAug10-unspliced 623 bp 98 aa 191 bp 135 bp 2kb 623 bp 1kb
veAug10 572 bp 90 aa 301 bp 2kb including Promoter 6869 bp 1kb
vfAug10 564 bp 99 aa 35 bp 229 bp 2kb including Promoter 22021 bp 1kb
vgAug10 551 bp 65 aa 154 bp 199 bp 2kb including Promoter 9273 bp 1kb
vhAug10 528 bp 50 aa 159 bp 216 bp 2kb including Promoter 1430 bp 1kb
viAug10-unspliced 518 bp 106 aa 345 bp 95 bp 2kb including Promoter 518 bp 1kb
vjAug10-unspliced 350 bp 70 aa 139 bp 2kb including Promoter 350 bp 1kb
vkAug10 266 bp 26 aa 109 bp 76 bp 2kb 3217 bp 1kb
vlAug10 251 bp 58 aa 75 bp 2kb 696 bp 1kb

Gene neighbors and Navigator on chromosome 21q22.3 back to top
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 back to top
Bibliography:               16 articles in PubMed back to top
? 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 DC

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'.

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