Homo sapiens gene ANKRD54, encoding ankyrin repeat domain 54.
TABLE OF CONTENTS / OPEN CLOSE ALL PARAGRAPHS
SUMMARY back to top
RefSeq annotates one representative transcript (NM included in AceView variant.b), 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 15 spliced variants.

AceView synopsis, each blue text links to tables and details
Expression: According to AceView, this gene is expressed at high level, 2.8 times the average gene in this release. The sequence of this gene is defined by 322 GenBank accessions from 293 cDNA clones, some from brain (seen 29 times), pooled germ cell tumors (15), hypothalamus (14), breast (13), uterus (13), lung (11), prostate (11) and 109 other tissues. We annotate structural defects or features in 46 cDNA clones.
Alternative mRNA variants and regulation: The gene contains 17 distinct gt-ag introns. Transcription produces 17 different mRNAs, 15 alternatively spliced variants and 2 unspliced forms. There are 4 probable alternative promotors, 2 non overlapping alternative last exons and 3 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 11 cassette exons, overlapping exons with different boundaries, splicing versus retention of 3 introns. 475 bp of this gene are antisense to spliced gene EIF3L, raising the possibility of regulated alternate expression.
2 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 gAug10, hAug10, lAug10, nAug10).
Function: There are 2 articles specifically referring to this gene in PubMed. Functionally, the gene has been proposed to participate in processes (cell cycle, nucleocytoplasmic transport, positive regulation of erythrocyte differentiation, regulation of intracellular protein kinase cascade, regulation of protein kinase activity). Proteins are expected to have molecular functions (protein complex binding, protein kinase regulator activity) and to localize in various compartments (nucleus, cytoplasm, midbody).
Protein coding potential: 14 spliced and the unspliced mRNAs putatively encode good proteins, altogether 16 different isoforms (6 complete, 2 COOH complete, 8 partial), some containing Ankyrin repeat domain [Pfam]. The remaining 2 mRNA variants (1 spliced, 1 unspliced) appear not to encode good proteins.
Isoform ANKRD54.mAug10-unspliced is annotated using as Met a Kozak-compatible a..CTG. start, thereby gaining 91 amino acids N-terminal to the first AUG. Finally proteins from this gene may be modulated by phosphorylation, as detailed at PhosphoSite.

Please quote: AceView: a comprehensive cDNA-supported gene and transcripts annotation, Genome Biology 2006, 7(Suppl 1):S12.
Map on chromosome 22, links to other databases and other names
Map: This gene ANKRD54 maps on chromosome 22, at 22q13.1 according to Entrez Gene. In AceView, it covers 18.50 kb, from 38245350 to 38226854 (NCBI 37, August 2010), on the reverse strand.
Links to: manual annotations from PhosphoSite, the SNP view, gene overviews from Entrez Gene 129138, 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 ANKRD54 or LIAR, LOC129138. It has been described as ankyrin repeat domain-containing protein 54, OTTHUMP00000198182, OTTHUMP00000198183, OTTHUMP00000198184, OTTHUMP00000198186.
Closest AceView homologs in other species ?
The closest mouse gene, according to BlastP, is the AceView gene Ankrd54 (e=6 10-57).
The closest C.elegans genes, according to BlastP, are the AceView/WormGenes gfi-2 (e=2 10-09), ape-1 (e=4 10-09), trp-4 (e=8 10-09), unc-44 (e=2 10-08), mel-11 (e=2 10-07), which may contain interesting functional annotation.
The closest A.thaliana genes, according to BlastP, are the AceView genes AKT5 (e=9 10-11), SPIK (e=10-10), AT2G03430 (e=2 10-10), AKT1 (e=2 10-09), which may contain interesting functional annotation
RNA_seq discoveries back to top
Expression/conservation in primates tissues evaluated by cross-mapping to human. back to top
ANKRD54 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 4.39 2.90 6.21 3.10 3.82 3.82 6.21 4.39 5.04 11.6 4.10 7.13 6.65 4.10 11.6 5.04 5.40 8.19 6.21 13.3 14.3 3.82 3.10 1.45 3.82 4.71 3.82 2.35 5.04 0.96 4.39 5.79 2.90 8.19 8.78 4.39 4.10 5.04 4.39 8.19 13.3 7.13 7.64 6.21 8.19 2.52 6.65 6.21 5.04 4.39 2.35 3.10 4.10 4.39 2.70 2.05 4.71 5.04 2.70 6.65 8.19 4.10 10.1 8.19 5.79 4.71 7.64 17.6 13.3 5.04 15.3 7.64 6.65 9.41 6.21 6.21 10.1 4.71 4.71 5.04 10.8 4.71 8.19 4.39 15.3 5.40 6.65 6.21 4.71 5.79 9.41 8.78 6.65 10.8 2.70 4.10 5.40 5.04 4.71 9.41 4.39 5.79 5.79 4.39 3.33 4.10 7.64 5.04 3.82 3.10 3.33 3.57 9.41 6.21 10.1 2.70 4.10 3.82 4.71 8.19 9.41 8.19 5.04 4.71 7.64 13.3 3.10 3.82 5.40 6.65 10.8 12.4 4.39 5.79 15.3 4.71 2.05 3.57 2.52 5.40 4.10 5.04 7.13 2.52 4.39 4.71 3.82 8.78 5.79 12.4 0.83 11.6 7.64 5.40 4.10 4.39 1.45 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!.
Read more...
          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 ANKRD54 5' 3' encoded on minus strand of chromosome 22 from 38,245,350 to 38,226,854 26043 22207 35863 45535 a q-u 26043 22207 35863 45535 b [NM] 382 35863 c 26043 22207 155 d 26043 22207 35863 79 45535 e 382 35863 850 45535 f 161 5107 35863 45535 g 26043 5107 35863 45535 h 26043 22207 2606 i 26043 22207 2606 45535 j 453 45535 k 26043 5107 2606 45535 l m-u 25 342 850 45535 n 161 5107 2606 o 161 22207 35863 45535 p 1 2kb 0 354 bp exon 354 bp exon 3676 bp [gt-ag] intron 90 GenBank accessions 25953 RNA-seq supporting reads 2531 UHR pooled cells 2403 Brain 608 Blood 20191 Neuroblastoma 220 Other (also 1676 Primates bodymap) 48 bp exon 1588 bp [gt-ag] intron 76 GenBank accessions 22131 RNA-seq supporting reads 2758 UHR pooled cells 2243 Brain 766 Blood 16129 Neuroblastoma 235 Other (also 1917 Primates bodymap) 99 bp exon 4744 bp [gt-ag] intron 90 GenBank accessions 35773 RNA-seq supporting reads 4622 UHR pooled cells 4453 Brain 948 Blood 25322 Neuroblastoma 428 Other (also 3221 Primates bodymap) 72 bp exon 477 bp [gt-ag] intron 93 GenBank accessions 45156 RNA-seq supporting reads 5930 UHR pooled cells 5438 Brain 1489 Blood 31762 Neuroblastoma 537 Other (also 4904 Primates bodymap) 570 bp exon 570 bp exon 619 bp [gt-ag] intron 64 GenBank accessions 45471 RNA-seq supporting reads 6270 UHR pooled cells 5684 Brain 1651 Blood 31314 Neuroblastoma 552 Other (also 3872 Primates bodymap) 14 accessions, some from brain (seen 2 times) head neck (2), brain/cns (once) breast (once), epithelioid carcinoma (once) 1137 bp exon 1192 bp exon 1192 bp exon 30 accessions, some from breast (seen 5 times) adenocarcinoma, cell line (2) brain (2), cerebellum (2) embryonic stem cells dmso-treated H9 cellline (2) capped 5' end, 9 accessions 1192 bp exon 521 bp exon 521 bp exon 3676 bp [gt-ag] intron 90 GenBank accessions 25953 RNA-seq supporting reads 2531 UHR pooled cells 2403 Brain 608 Blood 20191 Neuroblastoma 220 Other (also 1676 Primates bodymap) 48 bp exon 1588 bp [gt-ag] intron 76 GenBank accessions 22131 RNA-seq supporting reads 2758 UHR pooled cells 2243 Brain 766 Blood 16129 Neuroblastoma 235 Other (also 1917 Primates bodymap) 99 bp exon 4744 bp [gt-ag] intron 90 GenBank accessions 35773 RNA-seq supporting reads 4622 UHR pooled cells 4453 Brain 948 Blood 25322 Neuroblastoma 428 Other (also 3221 Primates bodymap) 72 bp exon 477 bp [gt-ag] intron 93 GenBank accessions 45156 RNA-seq supporting reads 5930 UHR pooled cells 5438 Brain 1489 Blood 31762 Neuroblastoma 537 Other (also 4904 Primates bodymap) 48 bp exon 76 bp [gt-ag] intron 82 GenBank accessions 34340 RNA-seq supporting reads 4848 UHR pooled cells 4631 Brain 974 Blood 23489 Neuroblastoma 398 Other (also 4139 Primates bodymap) 125 bp exon 213 bp [gt-ag] intron 62 GenBank accessions 43679 RNA-seq supporting reads 6648 UHR pooled cells 6146 Brain 1429 Blood 28966 Neuroblastoma 490 Other (also 4494 Primates bodymap) 108 bp exon 619 bp [gt-ag] intron 64 GenBank accessions 45471 RNA-seq supporting reads 6270 UHR pooled cells 5684 Brain 1651 Blood 31314 Neuroblastoma 552 Other (also 3872 Primates bodymap) 1168 bp exon 216 accessions, NM_138797.1 some from brain (seen 15 times) pooled germ cell tumors (15) uterus (13), hypothalamus (12) lung (9) Validated 3' end, 27 accessions 1168 bp exon 388 bp exon 5312 bp [gt-ag] intron 3 GenBank accessions 379 RNA-seq supporting reads 10 UHR pooled cells 18 Brain 346 Neuroblastoma 5 Other (also 3 Primates bodymap) 99 bp exon 4744 bp [gt-ag] intron 90 GenBank accessions 35773 RNA-seq supporting reads 4622 UHR pooled cells 4453 Brain 948 Blood 25322 Neuroblastoma 428 Other (also 3221 Primates bodymap) 72 bp exon 477 bp [gt-ag] intron 93 GenBank accessions 45156 RNA-seq supporting reads 5930 UHR pooled cells 5438 Brain 1489 Blood 31762 Neuroblastoma 537 Other (also 4904 Primates bodymap) 48 bp exon 76 bp [gt-ag] intron 82 GenBank accessions 34340 RNA-seq supporting reads 4848 UHR pooled cells 4631 Brain 974 Blood 23489 Neuroblastoma 398 Other (also 4139 Primates bodymap) 1 accession from muscle from rhabdomyosarcoma 119 bp exon 399 bp exon 399 bp exon 3676 bp [gt-ag] intron 90 GenBank accessions 25953 RNA-seq supporting reads 2531 UHR pooled cells 2403 Brain 608 Blood 20191 Neuroblastoma 220 Other (also 1676 Primates bodymap) 48 bp exon 1588 bp [gt-ag] intron 76 GenBank accessions 22131 RNA-seq supporting reads 2758 UHR pooled cells 2243 Brain 766 Blood 16129 Neuroblastoma 235 Other (also 1917 Primates bodymap) 99 bp exon 5293 bp [gt-ag] intron 1 GenBank accession 154 RNA-seq supporting reads 26 UHR pooled cells 5 Brain 1 Blood 122 Neuroblastoma (also 15 Primates bodymap) 48 bp exon 76 bp [gt-ag] intron 82 GenBank accessions 34340 RNA-seq supporting reads 4848 UHR pooled cells 4631 Brain 974 Blood 23489 Neuroblastoma 398 Other (also 4139 Primates bodymap) 121 bp exon 1 accession from melanotic melanoma cell line from skin 121 bp exon 96 bp exon 96 bp exon 3676 bp [gt-ag] intron 90 GenBank accessions 25953 RNA-seq supporting reads 2531 UHR pooled cells 2403 Brain 608 Blood 20191 Neuroblastoma 220 Other (also 1676 Primates bodymap) 48 bp exon 1588 bp [gt-ag] intron 76 GenBank accessions 22131 RNA-seq supporting reads 2758 UHR pooled cells 2243 Brain 766 Blood 16129 Neuroblastoma 235 Other (also 1917 Primates bodymap) 99 bp exon 4744 bp [gt-ag] intron 90 GenBank accessions 35773 RNA-seq supporting reads 4622 UHR pooled cells 4453 Brain 948 Blood 25322 Neuroblastoma 428 Other (also 3221 Primates bodymap) 72 bp exon 574 bp [gt-ag] intron 1 GenBank accession 78 RNA-seq supporting reads 12 UHR pooled cells 16 Brain 50 Neuroblastoma (also 2 Primates bodymap) 152 bp exon 213 bp [gt-ag] intron 62 GenBank accessions 43679 RNA-seq supporting reads 6648 UHR pooled cells 6146 Brain 1429 Blood 28966 Neuroblastoma 490 Other (also 4494 Primates bodymap) 108 bp exon 619 bp [gt-ag] intron 64 GenBank accessions 45471 RNA-seq supporting reads 6270 UHR pooled cells 5684 Brain 1651 Blood 31314 Neuroblastoma 552 Other (also 3872 Primates bodymap) 1 accession from embryonic stem cell retinoic acid andmitogen-treated hes cell line H7 48 bp exon 411 bp exon 411 bp exon 411 bp exon 5312 bp [gt-ag] intron 3 GenBank accessions 379 RNA-seq supporting reads 10 UHR pooled cells 18 Brain 346 Neuroblastoma 5 Other (also 3 Primates bodymap) 99 bp exon 99 bp exon 99 bp exon 4744 bp [gt-ag] intron 90 GenBank accessions 35773 RNA-seq supporting reads 4622 UHR pooled cells 4453 Brain 948 Blood 25322 Neuroblastoma 428 Other (also 3221 Primates bodymap) 72 bp exon 72 bp exon 477 bp [gt-ag] intron 93 GenBank accessions 45156 RNA-seq supporting reads 5930 UHR pooled cells 5438 Brain 1489 Blood 31762 Neuroblastoma 537 Other (also 4904 Primates bodymap) 48 bp exon 48 bp exon 414 bp [gt-ag] intron 3 GenBank accessions 847 RNA-seq supporting reads 54 UHR pooled cells 52 Brain 3 Blood 732 Neuroblastoma 6 Other (also 6 Primates bodymap) 108 bp exon 108 bp exon 108 bp exon 619 bp [gt-ag] intron 64 GenBank accessions 45471 RNA-seq supporting reads 6270 UHR pooled cells 5684 Brain 1651 Blood 31314 Neuroblastoma 552 Other (also 3872 Primates bodymap) 1117 bp exon 1117 bp exon 2 accessions, some from brain (seen once) 1117 bp exon 255 bp exon 255 bp exon 72 bp uORF 255 bp exon 3382 bp [gt-ag] intron 5 GenBank accessions 156 RNA-seq supporting reads 69 UHR pooled cells 10 Brain 1 Blood 76 Neuroblastoma (also 7 Primates bodymap) 48 bp exon 48 bp exon 48 bp exon 1593 bp [gt-ag] intron 19 GenBank accessions 5088 RNA-seq supporting reads 380 UHR pooled cells 838 Brain 130 Blood 3663 Neuroblastoma 77 Other (also 490 Primates bodymap) 94 bp exon 94 bp exon 4744 bp [gt-ag] intron 90 GenBank accessions 35773 RNA-seq supporting reads 4622 UHR pooled cells 4453 Brain 948 Blood 25322 Neuroblastoma 428 Other (also 3221 Primates bodymap) 72 bp exon 72 bp exon 477 bp [gt-ag] intron 93 GenBank accessions 45156 RNA-seq supporting reads 5930 UHR pooled cells 5438 Brain 1489 Blood 31762 Neuroblastoma 537 Other (also 4904 Primates bodymap) 48 bp exon 48 bp exon 76 bp [gt-ag] intron 82 GenBank accessions 34340 RNA-seq supporting reads 4848 UHR pooled cells 4631 Brain 974 Blood 23489 Neuroblastoma 398 Other (also 4139 Primates bodymap) 125 bp exon 125 bp exon 213 bp [gt-ag] intron 62 GenBank accessions 43679 RNA-seq supporting reads 6648 UHR pooled cells 6146 Brain 1429 Blood 28966 Neuroblastoma 490 Other (also 4494 Primates bodymap) 108 bp exon 108 bp exon 619 bp [gt-ag] intron 64 GenBank accessions 45471 RNA-seq supporting reads 6270 UHR pooled cells 5684 Brain 1651 Blood 31314 Neuroblastoma 552 Other (also 3872 Primates bodymap) 193 bp exon 193 bp exon 3 accessions, some from breast (seen once) mammary adenocarcinoma cell line (once), melanotic melanoma high MDR (cell line) (once) skin (once), testis (once) 193 bp exon 308 bp exon 308 bp exon 51 bp uORF 308 bp exon 3676 bp [gt-ag] intron 90 GenBank accessions 25953 RNA-seq supporting reads 2531 UHR pooled cells 2403 Brain 608 Blood 20191 Neuroblastoma 220 Other (also 1676 Primates bodymap) 48 bp exon 48 bp exon 48 bp exon 1593 bp [gt-ag] intron 19 GenBank accessions 5088 RNA-seq supporting reads 380 UHR pooled cells 838 Brain 130 Blood 3663 Neuroblastoma 77 Other (also 490 Primates bodymap) 94 bp exon 94 bp exon 4744 bp [gt-ag] intron 90 GenBank accessions 35773 RNA-seq supporting reads 4622 UHR pooled cells 4453 Brain 948 Blood 25322 Neuroblastoma 428 Other (also 3221 Primates bodymap) 72 bp exon 72 bp exon 477 bp [gt-ag] intron 93 GenBank accessions 45156 RNA-seq supporting reads 5930 UHR pooled cells 5438 Brain 1489 Blood 31762 Neuroblastoma 537 Other (also 4904 Primates bodymap) 48 bp exon 48 bp exon 76 bp [gt-ag] intron 82 GenBank accessions 34340 RNA-seq supporting reads 4848 UHR pooled cells 4631 Brain 974 Blood 23489 Neuroblastoma 398 Other (also 4139 Primates bodymap) 125 bp exon 125 bp exon 213 bp [gt-ag] intron 62 GenBank accessions 43679 RNA-seq supporting reads 6648 UHR pooled cells 6146 Brain 1429 Blood 28966 Neuroblastoma 490 Other (also 4494 Primates bodymap) 108 bp exon 108 bp exon 619 bp [gt-ag] intron 64 GenBank accessions 45471 RNA-seq supporting reads 6270 UHR pooled cells 5684 Brain 1651 Blood 31314 Neuroblastoma 552 Other (also 3872 Primates bodymap) 1162 bp exon 1162 bp exon 11 accessions, some from fetal brain (seen 3 times) brain (2), neuroblastoma (2) amygdala (once), hippocampus (once) Validated 3' end, 1 accession 1162 bp exon 366 bp exon 366 bp exon 366 bp exon 3676 bp [gt-ag] intron 90 GenBank accessions 25953 RNA-seq supporting reads 2531 UHR pooled cells 2403 Brain 608 Blood 20191 Neuroblastoma 220 Other (also 1676 Primates bodymap) 48 bp exon 48 bp exon 48 bp exon 1588 bp [gt-ag] intron 76 GenBank accessions 22131 RNA-seq supporting reads 2758 UHR pooled cells 2243 Brain 766 Blood 16129 Neuroblastoma 235 Other (also 1917 Primates bodymap) 99 bp exon 99 bp exon 4749 bp [gt-ag] intron 8 GenBank accessions 2598 RNA-seq supporting reads 209 UHR pooled cells 477 Brain 22 Blood 1840 Neuroblastoma 50 Other (also 37 Primates bodymap) 67 bp exon 67 bp exon 67 bp exon 477 bp [gt-ag] intron 93 GenBank accessions 45156 RNA-seq supporting reads 5930 UHR pooled cells 5438 Brain 1489 Blood 31762 Neuroblastoma 537 Other (also 4904 Primates bodymap) 134 bp exon 1 accession from ovary (pool of 3) 134 bp exon 406 bp exon 3676 bp [gt-ag] intron 90 GenBank accessions 25953 RNA-seq supporting reads 2531 UHR pooled cells 2403 Brain 608 Blood 20191 Neuroblastoma 220 Other (also 1676 Primates bodymap) 48 bp exon 48 bp exon 1588 bp [gt-ag] intron 76 GenBank accessions 22131 RNA-seq supporting reads 2758 UHR pooled cells 2243 Brain 766 Blood 16129 Neuroblastoma 235 Other (also 1917 Primates bodymap) 99 bp exon 4749 bp [gt-ag] intron 8 GenBank accessions 2598 RNA-seq supporting reads 209 UHR pooled cells 477 Brain 22 Blood 1840 Neuroblastoma 50 Other (also 37 Primates bodymap) 67 bp exon 477 bp [gt-ag] intron 93 GenBank accessions 45156 RNA-seq supporting reads 5930 UHR pooled cells 5438 Brain 1489 Blood 31762 Neuroblastoma 537 Other (also 4904 Primates bodymap) 48 bp exon 76 bp [gt-ag] intron 82 GenBank accessions 34340 RNA-seq supporting reads 4848 UHR pooled cells 4631 Brain 974 Blood 23489 Neuroblastoma 398 Other (also 4139 Primates bodymap) 125 bp exon 213 bp [gt-ag] intron 62 GenBank accessions 43679 RNA-seq supporting reads 6648 UHR pooled cells 6146 Brain 1429 Blood 28966 Neuroblastoma 490 Other (also 4494 Primates bodymap) 108 bp exon 619 bp [gt-ag] intron 64 GenBank accessions 45471 RNA-seq supporting reads 6270 UHR pooled cells 5684 Brain 1651 Blood 31314 Neuroblastoma 552 Other (also 3872 Primates bodymap) 3 accessions, some from brain (seen once) embryonic stem (once) medulla (once) 42 bp exon 816 bp exon 161 bp [gt-ag] intron 1 GenBank accession 452 RNA-seq supporting reads 189 UHR pooled cells 2 Brain 8 Blood 250 Neuroblastoma 3 Other (also 34 Primates bodymap) 72 bp exon 72 bp exon 477 bp [gt-ag] intron 93 GenBank accessions 45156 RNA-seq supporting reads 5930 UHR pooled cells 5438 Brain 1489 Blood 31762 Neuroblastoma 537 Other (also 4904 Primates bodymap) 249 bp exon 213 bp [gt-ag] intron 62 GenBank accessions 43679 RNA-seq supporting reads 6648 UHR pooled cells 6146 Brain 1429 Blood 28966 Neuroblastoma 490 Other (also 4494 Primates bodymap) 108 bp exon 619 bp [gt-ag] intron 64 GenBank accessions 45471 RNA-seq supporting reads 6270 UHR pooled cells 5684 Brain 1651 Blood 31314 Neuroblastoma 552 Other (also 3872 Primates bodymap) 1162 bp exon 2 accessions capped 5' end, 1 accession Validated 3' end, 1 accession 1162 bp exon 278 bp exon 278 bp exon 51 bp uORF 278 bp exon 3676 bp [gt-ag] intron 90 GenBank accessions 25953 RNA-seq supporting reads 2531 UHR pooled cells 2403 Brain 608 Blood 20191 Neuroblastoma 220 Other (also 1676 Primates bodymap) 48 bp exon 48 bp exon 1593 bp [gt-ag] intron 19 GenBank accessions 5088 RNA-seq supporting reads 380 UHR pooled cells 838 Brain 130 Blood 3663 Neuroblastoma 77 Other (also 490 Primates bodymap) 94 bp exon 94 bp exon 94 bp exon 4749 bp [gt-ag] intron 8 GenBank accessions 2598 RNA-seq supporting reads 209 UHR pooled cells 477 Brain 22 Blood 1840 Neuroblastoma 50 Other (also 37 Primates bodymap) 67 bp exon 67 bp exon 477 bp [gt-ag] intron 93 GenBank accessions 45156 RNA-seq supporting reads 5930 UHR pooled cells 5438 Brain 1489 Blood 31762 Neuroblastoma 537 Other (also 4904 Primates bodymap) 48 bp exon 48 bp exon 76 bp [gt-ag] intron 82 GenBank accessions 34340 RNA-seq supporting reads 4848 UHR pooled cells 4631 Brain 974 Blood 23489 Neuroblastoma 398 Other (also 4139 Primates bodymap) 125 bp exon 125 bp exon 213 bp [gt-ag] intron 62 GenBank accessions 43679 RNA-seq supporting reads 6648 UHR pooled cells 6146 Brain 1429 Blood 28966 Neuroblastoma 490 Other (also 4494 Primates bodymap) 108 bp exon 108 bp exon 619 bp [gt-ag] intron 64 GenBank accessions 45471 RNA-seq supporting reads 6270 UHR pooled cells 5684 Brain 1651 Blood 31314 Neuroblastoma 552 Other (also 3872 Primates bodymap) 26 bp exon 26 bp exon 3 accessions, some from breast (seen once) hippocampus (once), mammary adenocarcinoma cell line (once) 26 bp exon 795 bp exon 795 bp exon 1 accession from eye from optic nerve 795 bp exon 391 bp exon 391 bp exon 24 bp uORF 391 bp exon 8702 bp [gt-ag] intron 1 GenBank accession 24 RNA-seq supporting reads 2 Brain 1 Blood 21 Neuroblastoma (also 6 Primates bodymap) 48 bp exon 48 bp exon 48 bp exon 6431 bp [gt-ag] intron 1 GenBank accession 341 RNA-seq supporting reads 75 UHR pooled cells 26 Brain 11 Blood 225 Neuroblastoma 4 Other (also 2 Primates bodymap) 72 bp exon 72 bp exon 477 bp [gt-ag] intron 93 GenBank accessions 45156 RNA-seq supporting reads 5930 UHR pooled cells 5438 Brain 1489 Blood 31762 Neuroblastoma 537 Other (also 4904 Primates bodymap) 48 bp exon 48 bp exon 414 bp [gt-ag] intron 3 GenBank accessions 847 RNA-seq supporting reads 54 UHR pooled cells 52 Brain 3 Blood 732 Neuroblastoma 6 Other (also 6 Primates bodymap) 108 bp exon 108 bp exon 619 bp [gt-ag] intron 64 GenBank accessions 45471 RNA-seq supporting reads 6270 UHR pooled cells 5684 Brain 1651 Blood 31314 Neuroblastoma 552 Other (also 3872 Primates bodymap) 130 bp exon 130 bp exon 1 accession from testis 130 bp exon 271 bp exon 271 bp exon 72 bp uORF 271 bp exon 3382 bp [gt-ag] intron 5 GenBank accessions 156 RNA-seq supporting reads 69 UHR pooled cells 10 Brain 1 Blood 76 Neuroblastoma (also 7 Primates bodymap) 48 bp exon 48 bp exon 1593 bp [gt-ag] intron 19 GenBank accessions 5088 RNA-seq supporting reads 380 UHR pooled cells 838 Brain 130 Blood 3663 Neuroblastoma 77 Other (also 490 Primates bodymap) 94 bp exon 94 bp exon 94 bp exon 4749 bp [gt-ag] intron 8 GenBank accessions 2598 RNA-seq supporting reads 209 UHR pooled cells 477 Brain 22 Blood 1840 Neuroblastoma 50 Other (also 37 Primates bodymap) 67 bp exon 67 bp exon 477 bp [gt-ag] intron 93 GenBank accessions 45156 RNA-seq supporting reads 5930 UHR pooled cells 5438 Brain 1489 Blood 31762 Neuroblastoma 537 Other (also 4904 Primates bodymap) 48 bp exon 48 bp exon 76 bp [gt-ag] intron 82 GenBank accessions 34340 RNA-seq supporting reads 4848 UHR pooled cells 4631 Brain 974 Blood 23489 Neuroblastoma 398 Other (also 4139 Primates bodymap) 74 bp exon 1 accession from testis 74 bp exon 255 bp exon 3382 bp [gt-ag] intron 5 GenBank accessions 156 RNA-seq supporting reads 69 UHR pooled cells 10 Brain 1 Blood 76 Neuroblastoma (also 7 Primates bodymap) 48 bp exon 1588 bp [gt-ag] intron 76 GenBank accessions 22131 RNA-seq supporting reads 2758 UHR pooled cells 2243 Brain 766 Blood 16129 Neuroblastoma 235 Other (also 1917 Primates bodymap) 99 bp exon 4744 bp [gt-ag] intron 90 GenBank accessions 35773 RNA-seq supporting reads 4622 UHR pooled cells 4453 Brain 948 Blood 25322 Neuroblastoma 428 Other (also 3221 Primates bodymap) 72 bp exon 477 bp [gt-ag] intron 93 GenBank accessions 45156 RNA-seq supporting reads 5930 UHR pooled cells 5438 Brain 1489 Blood 31762 Neuroblastoma 537 Other (also 4904 Primates bodymap) 48 bp exon 76 bp [gt-ag] intron 82 GenBank accessions 34340 RNA-seq supporting reads 4848 UHR pooled cells 4631 Brain 974 Blood 23489 Neuroblastoma 398 Other (also 4139 Primates bodymap) 125 bp exon 213 bp [gt-ag] intron 62 GenBank accessions 43679 RNA-seq supporting reads 6648 UHR pooled cells 6146 Brain 1429 Blood 28966 Neuroblastoma 490 Other (also 4494 Primates bodymap) 108 bp exon 619 bp [gt-ag] intron 64 GenBank accessions 45471 RNA-seq supporting reads 6270 UHR pooled cells 5684 Brain 1651 Blood 31314 Neuroblastoma 552 Other (also 3872 Primates bodymap) 1162 bp exon 1162 bp exon 1 accession from testis capped 5' end, 1 accession 1162 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...
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 2280 bp 359 aa 1198 bp 2kb 13384 bp 1kb
bAug10 2189 bp 300 aa 193 bp 1093 bp 2kb possibly including promoter 13582 bp 1kb
cAug10 726 bp 242 aa 2kb 11335 bp 1kb
dAug10 715 bp 214 aa 71 bp 2kb probably including promoter 11348 bp 1kb
eAug10 623 bp 207 aa 2kb 12037 bp 1kb
fAug10 1855 bp 197 aa 83 bp 1178 bp 2kb probably including promoter 13421 bp 1kb
127 aa 429 bp 1042 bp 2kb probably including promoter 13421 bp 1kb
gAug10 943 bp 180 aa 282 bp 118 bp 69 bp 2kb possibly including promoter 12047 bp 1kb
hAug10 1965 bp 180 aa 335 bp 1087 bp 48 bp 2kb possibly including promoter 13363 bp 1kb
iAug10 714 bp 177 aa 178 bp 2kb 11204 bp 1kb
107 aa 393 bp 2kb 11204 bp 1kb
jAug10 943 bp 170 aa 433 bp 2kb probably including promoter 12341 bp 1kb
kAug10 2407 bp 161 aa 834 bp 1087 bp 2kb including Promoter 3877 bp 1kb
lAug10 794 bp 151 aa 339 bp 48 bp 2kb possibly including promoter 12197 bp 1kb
mAug10-unspliced 795 bp 139 aa 376 bp 2kb possibly including promoter 795 bp 1kb
nAug10 797 bp 107 aa 418 bp 55 bp 21 bp 2kb possibly including promoter 17440 bp 1kb
oAug10 602 bp 90 aa 332 bp 69 bp 2kb possibly including promoter 10879 bp 1kb
pAug10 1917 bp 109 aa 975 bp 612 bp 2kb including Promoter 13016 bp 1kb
qAug10-unspliced 1192 bp 69 aa 506 bp 476 bp 2kb including Promoter 1192 bp 1kb

Gene neighbors and Navigator on chromosome 22q13.1 back to top
R CDC42EP1 C I R P GGA1 C I R P C SH3BP1andPDXP C I R P LGALS1 D C I R P NOL12 C I R P TRIOBP D C I R P C H1F0 D C I R P GCAT C I R P GALR3 D C P EIF3L C I R P MICALL1 C I R P POLR2F C I R P PICK1 D C I R P R MAFF C I R P R C C R P ELFN2 C I R P CARD10andMFNG D C I R P LGALS2 R C R C R P ANKRD54 P MIR659 C R P C22orf23 D C I R P SOX10 C I R P SLC16A8 C R P BAIAP2L2 D C R P PLA2G6 C R P TMEM184B 100kb 0 gleejaw, 6 accessions CDC42EP1, 296 accessions 7 variants GGA1, 448 accessions, 41 variants fleefor, 3 accessions SH3BP1andPDXP, 410 accessions 13 variants LGALS1, 343 accessions 13 variants NOL12, 255 accessions 7 variants TRIOBP, 455 accessions 15 variants pypa, 8 accessions H1F0, 493 accessions, 2 variants GCAT, 191 accessions, 10 variants GALR3, 11 accessions EIF3L, 325 accessions 26 variants MICALL1, 257 accessions 10 variants POLR2F, 385 accessions 20 variants PICK1, 403 accessions 24 variants slarfor, 3 accessions MAFF, 297 accessions, 6 variants swuvaw, 1 accession smufor, 5 accessions glawro, 1 accession jawkor, 1 accession pleezey, 1 accession gleyro, 1 accession glorro, 1 accession kleero, 2 accessions jeekor, 2 accessions kleysubo, 2 accessions plarro, 1 accession keekor, 1 accession stavaw, 2 accessions skuro, 2 accessions ririra, 1 accession skoyro, 1 accession smafaw, 1 accession slerro, 1 accession slorro, 2 accessions sloyro, 1 accession rurira, 2 accessions smaro, 1 accession smoro, 2 accessions garzor, 2 accessions sneedoy, 1 accession tonira, 1 accession kerzor, 1 accession myzor, 2 accessions yunura, 1 accession stawvaw, 1 accession moykor, 1 accession nerkor, 3 accessions nakor, 1 accession motey, 2 accessions klafor, 4 accessions snarfaw, 1 accession snawfaw, 1 accession smoyro, 1 accession snyro, 1 accession snuro, 1 accession norkor, 1 accession pakor, 1 accession rerkor, 1 accession stervaw, 2 accessions pupa, 1 accession pyzor, 1 accession snoyfaw, 1 accession sporro, 1 accession spoyro, 1 accession stawro, 1 accession stoyro, 1 accession teyzor, 3 accessions spawfaw, 1 accession swaro, 1 accession swuro, 1 accession sworo, 1 accession swarro, 1 accession swawro, 1 accession speyfaw, 1 accession swerro, 1 accession skofor, 10 accessions wafaw, 9 accessions veekor, 1 accession steefaw, 1 accession marira, 2 accessions steyfaw, 1 accession storfaw, 1 accession mawtey, 6 accessions meetey, 2 accessions stoyvaw, 1 accession dorar, 1 accession swerfaw, 4 accessions deyrar, 1 accession sworfaw, 1 accession farar, 2 accessions feyrar, 2 accessions garar, 2 accessions floyzor, 1 accession jarrar, 2 accessions jeerar, 1 accession glyzor, 1 accession menura, 1 accession smazor, 1 accession warkor, 1 accession karrar, 1 accession kerrar, 1 accession weekor, 1 accession mawrar, 2 accessions morrar, 1 accession neerar, 2 accessions nerrar, 1 accession ryrar, 2 accessions rurar, 1 accession rorar, 1 accession rarrar, 3 accessions werkor, 1 accession spofor, 2 accessions reyrar, 1 accession fyfee, 1 accession tarrar, 1 accession fleero, 1 accession lawtey, 17 accessions spoyvaw, 0 accession klersubo, 1 accession gleezey, 1 accession munira, 2 accessions, 2 variants glerro, 1 accession henira, 2 accessions, 2 variants gloyro, 1 accession klyro, 1 accession skuzey, 1 accession klarro, 2 accessions kloyro, 1 accession blufor, 3 accessions lerkor, 3 accessions leykor, 2 accessions markor, 1 accession klorsubo, 1 accession smawfaw, 1 accession smoyfaw, 1 accession sleero, 1 accession merkor, 1 accession sleyro, 3 accessions speyzey, 1 accession snafaw, 1 accession gozor, 1 accession stovaw, 4 accessions smarro, 1 accession smawro, 1 accession snyfaw, 1 accession smeyro, 1 accession snaro, 1 accession snoro, 2 accessions klyfor, 1 accession plasubo, 1 accession plysubo, 1 accession reykor, 1 accession sakor, 1 accession takor, 1 accession staro, 2 accessions sterro, 1 accession klorfor, 1 accession storro, 1 accession tykor, 1 accession sweero, 1 accession toykor, 1 accession stufaw, 2 accessions sweyro, 1 accession vokor, 1 accession swoyro, 2 accessions bleyzor, 1 accession blorzor, 2 accessions borar, 1 accession barrar, 1 accession verkor, 1 accession beerar, 1 accession dyrar, 1 accession swofaw, 1 accession flozor, 1 accession flarzor, 2 accessions flawzor, 1 accession swavaw, 1 accession darrar, 1 accession dawrar, 1 accession derrar, 1 accession mortey, 3 accessions natey, 1 accession mirira, 1 accession furar, 1 accession morira, 1 accession foyrar, 2 accessions bafee, 1 accession jyrar, 5 accessions jerrar, 1 accession glazor, 2 accessions harira, 1 accession kyrar, 1 accession loyrar, 5 accessions murar, 1 accession merrar, 2 accessions nurira, 1 accession swawzor, 2 accessions norrar, 4 accessions plersubo, 1 accession pleysubo, 2 accessions dorzoy, 1 accession porar, 3 accessions swovaw, 1 accession darfee, 1 accession mumiru, 4 accessions swarvaw, 2 accessions pleyso, 3 accessions feyzoy, 2 accessions workor, 1 accession rerrar, 2 accessions royrar, 1 accession fofee, 1 accession sawrar, 1 accession seerar, 1 accession sporfor, 1 accession fawfee, 1 accession zorkor, 2 accessions tarar, 1 accession forzoy, 2 accessions torar, 3 accessions tawrar, 2 accessions chakor, 1 accession ELFN2, 45 accessions, 8 variants CARD10andMFNG, 515 accessions 32 variants LGALS2, 64 accessions 2 variants yohoru, 5 accessions, 2 variants smorro, 6 accessions, 4 variants ANKRD54, 307 accessions 17 variants MIR659, 3 accessions C22orf23, 74 accessions 7 variants SOX10, 213 accessions 5 variants SLC16A8, 16 accessions 3 variants BAIAP2L2, 70 accessions 7 variants PLA2G6, 423 accessions 40 variants TMEM184B, 302 accessions 14 variants CSNK1E, 655 accessions 34 variants ZOOM IN                D:disease,C:conserved,I:interactions,R:regulation,P:publications         Read more...
Annotated mRNA diagrams back to top
Bibliography:               2 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-u, .n, .o, .p, .q-u Alternative mRNAs features, proteins, introns, exons, sequences Expression Tissue Function, regulation, related genes 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 !