Homo sapiens complex locus DHPS, encoding deoxyhypusine synthase.
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SUMMARY back to top
RefSeq summary
[DHPS] The unusual amino acid hypusine is formed posttranslationally and is only found in a single cellular protein, eukaryotic translation initiation factor 5A. In the first step of hypusine biosynthesis, deoxyhypusine synthase catalyzes the NAD-dependent transfer of the butylamine moiety of spermidine to the epsilon-amino group of a specific lysine residue of the EIF5A precursor protein to form the intermediate deoxyhypusine residue. This gene consists of nine exons spanning 6.6 kb. Three transcript variants have been isolated. However, only transcript variant 1 encodes an active protein. The shorter variants may act as modulating factors of DHPS activity. [provided by RefSeq].

RefSeq annotates 3 representative transcripts (NM included in AceView variants .a, .c and .e), 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 20 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 high level, 3.4 times the average gene in this release. The sequence of this gene is defined by 389 GenBank accessions from 336 cDNA clones, some from brain (seen 39 times), thymus (24), uterus (19), lung (16), eye (14), spleen (14), cerebellum (10) and 123 other tissues.
Alternative mRNA variants and regulation: The gene contains 22 distinct introns (20 gt-ag, 2 gc-ag). Transcription produces 21 different mRNAs, 20 alternatively spliced variants and 1 unspliced form. There are 4 probable alternative promotors, 4 non overlapping alternative last exons and 6 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 12 cassette exons, overlapping exons with different boundaries, splicing versus retention of 10 introns. 314 bp of this gene are antisense to spliced gene WDR83, raising the possibility of regulated alternate expression.
4 variants were isolated in vivo, despite the fact that they are predicted targets of nonsense mediated mRNA decay (NMD).
Function: There are 17 articles specifically referring to this gene in PubMed. Functionally, the gene has been proposed to participate in processes (protein homotetramerization, spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase). Proteins are expected to have molecular function (transferase activity) and to localize in cytoplasm. Putative protein interactors have been described (ARF6, DHPS, EIF5A, EIF5A2, NIF3L1, NUDT18, RPL9).
Protein coding potential: 16 spliced mRNAs putatively encode good proteins, altogether 16 different isoforms (12 complete, 2 COOH complete, 2 partial), some containing deoxyhypusine synthase domain [Pfam]. The remaining 4 mRNA variants (4 spliced; 2 partial) appear not to encode good proteins. Finally proteins from this gene may be modulated by phosphorylation; ubiquitination, 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 19, links to other databases and other names
Map: This gene DHPS maps on chromosome 19, at 19p13 according to Entrez Gene. In AceView, it covers 10.73 kb, from 12792642 to 12781915 (NCBI 37, August 2010), on the reverse strand.
Links to: manual annotations from PhosphoSite, the SNP view, gene overviews from Entrez Gene 1725, 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 DHPS or MIG13, LOC1725. It has been described as deoxyhypusine synthase, DHS, migration-inducing gene 13.
EC number: This gene encodes protein number: 2.5.1.46.
Closest AceView homologs in other species ?
The closest mouse gene, according to BlastP, is the AceView gene Fbxw9andDhps (e= 10-168).
The closest C.elegans gene, according to BlastP, is the AceView/WormGene 2M287 (e=2 10-98).
The closest A.thaliana gene, according to BlastP, is the AceView gene DHS (e= 10-104)
RNA_seq discoveries back to top
Expression/conservation in primates tissues evaluated by cross-mapping to human. back to top
DHPS 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 10.8 4.39 10.1 6.65 7.13 7.64 12.4 10.1 4.71 14.3 5.04 20.2 20.2 9.41 15.3 14.3 13.3 35.1 28.5 20.2 14.3 12.4 9.41 3.57 5.79 5.04 9.41 17.6 9.41 6.65 7.13 2.90 8.78 20.2 16.4 3.57 10.8 12.4 10.1 13.3 18.8 17.6 13.3 15.3 14.3 9.41 14.3 12.4 21.6 23.2 21.6 24.8 15.3 28.5 28.5 17.6 14.3 28.5 10.8 8.19 8.78 8.19 18.8 15.3 6.65 7.13 18.8 17.6 24.8 12.4 17.6 18.8 16.4 16.4 12.4 10.8 11.6 10.1 12.4 10.1 12.4 12.4 16.4 10.1 20.2 11.6 9.41 10.8 11.6 12.4 17.6 11.6 10.8 9.41 5.79 8.19 12.4 10.8 8.78 14.3 9.41 7.64 10.8 14.3 14.3 6.65 10.8 5.79 7.64 10.8 12.4 10.1 10.8 12.4 18.8 7.13 10.1 9.41 10.8 7.64 18.8 15.3 13.3 13.3 18.8 13.3 7.13 11.6 15.3 12.4 24.8 16.4 11.6 12.4 23.2 11.6 10.8 5.40 8.78 7.13 14.3 10.8 12.4 8.19 14.3 9.41 11.6 17.6 7.64 4.71 6.65 10.8 15.3 14.3 6.21 10.8 7.13 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 DHPS 5' 3' encoded on minus strand of chromosome 19 from 12,792,713 to 12,781,915 187630 249827 241494 181542 207371 a [NM] 1796 249827 241494 181542 207371 b 187630 249827 241494 1542 207371 c [NM] 187630 249827 241494 207371 d 187630 249827 241494 1529 207371 e [NM] 187630 249827 241494 18497 207371 f u-u 1461 249827 241494 2214 207371 g 187630 249827 h 1796 249827 i 187630 249827 241494 181542 207371 j 187630 1 k 187630 249827 l 291 o 187630 49 m 1796 249827 n 249827 241494 p 187630 249827 3553 q 187630 249827 241494 r 249827 s 249827 3553 t 1 2kb 0 269 bp exon 269 bp exon 1234 bp [gt-ag] intron 243 GenBank accessions 187387 RNA-seq supporting reads 20528 UHR pooled cells 20638 Brain 9038 Blood 136389 Neuroblastoma 794 Other (also 7787 Primates bodymap) 165 bp exon 238 bp [gt-ag] intron 176 GenBank accessions 182322 RNA-seq supporting reads 23462 UHR pooled cells 21352 Brain 7040 Blood 129661 Neuroblastoma 807 Other (also 7095 Primates bodymap) 122 bp exon 81 bp [gt-ag] intron 165 GenBank accessions 249662 RNA-seq supporting reads 29692 UHR pooled cells 29132 Brain 9411 Blood 180134 Neuroblastoma 1293 Other (also 8612 Primates bodymap) 97 bp exon 79 bp [gt-ag] intron 138 GenBank accessions 212849 RNA-seq supporting reads 28236 UHR pooled cells 26550 Brain 7416 Blood 149641 Neuroblastoma 1006 Other (also 6275 Primates bodymap) 87 bp exon 2060 bp [gt-ag] intron 113 GenBank accessions 241381 RNA-seq supporting reads 30499 UHR pooled cells 29541 Brain 8969 Blood 171418 Neuroblastoma 954 Other (also 8945 Primates bodymap) 106 bp exon 79 bp [gt-ag] intron 77 GenBank accessions 216927 RNA-seq supporting reads 26813 UHR pooled cells 27637 Brain 8307 Blood 153464 Neuroblastoma 706 Other (also 9446 Primates bodymap) 104 bp exon 965 bp [gt-ag] intron 69 GenBank accessions 181473 RNA-seq supporting reads 22236 UHR pooled cells 23441 Brain 6760 Blood 128590 Neuroblastoma 446 Other (also 6104 Primates bodymap) 126 bp exon 83 bp [gt-ag] intron 110 GenBank accessions 207261 RNA-seq supporting reads 23806 UHR pooled cells 25082 Brain 6560 Blood 151406 Neuroblastoma 407 Other (also 7397 Primates bodymap) 389 bp exon 204 accessions, NM_001930.2 some from brain (seen 24 times) lung (13), eye (11), small cell carcinoma (9) ovary (7) capped 5' end, 3 accessions Validated 3' end, 33 accessions 389 bp exon 174 bp exon 707 bp [gt-ag] intron 8 GenBank accessions 1788 RNA-seq supporting reads 455 UHR pooled cells 487 Brain 5 Blood 795 Neuroblastoma 46 Other 165 bp exon 238 bp [gt-ag] intron 176 GenBank accessions 182322 RNA-seq supporting reads 23462 UHR pooled cells 21352 Brain 7040 Blood 129661 Neuroblastoma 807 Other (also 7095 Primates bodymap) 122 bp exon 81 bp [gt-ag] intron 165 GenBank accessions 249662 RNA-seq supporting reads 29692 UHR pooled cells 29132 Brain 9411 Blood 180134 Neuroblastoma 1293 Other (also 8612 Primates bodymap) 97 bp exon 79 bp [gt-ag] intron 138 GenBank accessions 212849 RNA-seq supporting reads 28236 UHR pooled cells 26550 Brain 7416 Blood 149641 Neuroblastoma 1006 Other (also 6275 Primates bodymap) 87 bp exon 2060 bp [gt-ag] intron 113 GenBank accessions 241381 RNA-seq supporting reads 30499 UHR pooled cells 29541 Brain 8969 Blood 171418 Neuroblastoma 954 Other (also 8945 Primates bodymap) 106 bp exon 79 bp [gt-ag] intron 77 GenBank accessions 216927 RNA-seq supporting reads 26813 UHR pooled cells 27637 Brain 8307 Blood 153464 Neuroblastoma 706 Other (also 9446 Primates bodymap) 104 bp exon 965 bp [gt-ag] intron 69 GenBank accessions 181473 RNA-seq supporting reads 22236 UHR pooled cells 23441 Brain 6760 Blood 128590 Neuroblastoma 446 Other (also 6104 Primates bodymap) 126 bp exon 83 bp [gt-ag] intron 110 GenBank accessions 207261 RNA-seq supporting reads 23806 UHR pooled cells 25082 Brain 6560 Blood 151406 Neuroblastoma 407 Other (also 7397 Primates bodymap) 191 bp exon 6 accessions, some from brain (seen 2 times) neuroblastoma cot 10-normalized (2) prostate (2), glioblastoma (once) hippocampus (once) 191 bp exon 269 bp exon 269 bp exon 1234 bp [gt-ag] intron 243 GenBank accessions 187387 RNA-seq supporting reads 20528 UHR pooled cells 20638 Brain 9038 Blood 136389 Neuroblastoma 794 Other (also 7787 Primates bodymap) 165 bp exon 238 bp [gt-ag] intron 176 GenBank accessions 182322 RNA-seq supporting reads 23462 UHR pooled cells 21352 Brain 7040 Blood 129661 Neuroblastoma 807 Other (also 7095 Primates bodymap) 122 bp exon 81 bp [gt-ag] intron 165 GenBank accessions 249662 RNA-seq supporting reads 29692 UHR pooled cells 29132 Brain 9411 Blood 180134 Neuroblastoma 1293 Other (also 8612 Primates bodymap) 97 bp exon 79 bp [gt-ag] intron 138 GenBank accessions 212849 RNA-seq supporting reads 28236 UHR pooled cells 26550 Brain 7416 Blood 149641 Neuroblastoma 1006 Other (also 6275 Primates bodymap) 87 bp exon 2060 bp [gt-ag] intron 113 GenBank accessions 241381 RNA-seq supporting reads 30499 UHR pooled cells 29541 Brain 8969 Blood 171418 Neuroblastoma 954 Other (also 8945 Primates bodymap) 106 bp exon 1185 bp [gt-ag] intron 4 GenBank accessions 1538 RNA-seq supporting reads 234 UHR pooled cells 167 Brain 26 Blood 1110 Neuroblastoma 1 Other (also 2 Primates bodymap) 89 bp exon 83 bp [gt-ag] intron 110 GenBank accessions 207261 RNA-seq supporting reads 23806 UHR pooled cells 25082 Brain 6560 Blood 151406 Neuroblastoma 407 Other (also 7397 Primates bodymap) 214 bp exon 4 accessions, NM_013406.1 some from chondrosarcoma grade II (seen once) left pelvis (once), liver (once) Validated 3' end, 3 accessions 214 bp exon 269 bp exon 269 bp exon 1234 bp [gt-ag] intron 243 GenBank accessions 187387 RNA-seq supporting reads 20528 UHR pooled cells 20638 Brain 9038 Blood 136389 Neuroblastoma 794 Other (also 7787 Primates bodymap) 165 bp exon 238 bp [gt-ag] intron 176 GenBank accessions 182322 RNA-seq supporting reads 23462 UHR pooled cells 21352 Brain 7040 Blood 129661 Neuroblastoma 807 Other (also 7095 Primates bodymap) 122 bp exon 81 bp [gt-ag] intron 165 GenBank accessions 249662 RNA-seq supporting reads 29692 UHR pooled cells 29132 Brain 9411 Blood 180134 Neuroblastoma 1293 Other (also 8612 Primates bodymap) 97 bp exon 79 bp [gt-ag] intron 138 GenBank accessions 212849 RNA-seq supporting reads 28236 UHR pooled cells 26550 Brain 7416 Blood 149641 Neuroblastoma 1006 Other (also 6275 Primates bodymap) 87 bp exon 2060 bp [gt-ag] intron 113 GenBank accessions 241381 RNA-seq supporting reads 30499 UHR pooled cells 29541 Brain 8969 Blood 171418 Neuroblastoma 954 Other (also 8945 Primates bodymap) 106 bp exon 79 bp [gt-ag] intron 77 GenBank accessions 216927 RNA-seq supporting reads 26813 UHR pooled cells 27637 Brain 8307 Blood 153464 Neuroblastoma 706 Other (also 9446 Primates bodymap) 1195 bp exon 1195 bp exon 83 bp [gt-ag] intron 110 GenBank accessions 207261 RNA-seq supporting reads 23806 UHR pooled cells 25082 Brain 6560 Blood 151406 Neuroblastoma 407 Other (also 7397 Primates bodymap) 22 accessions, some from uterus (seen 4 times) adrenal gland (2), moderately-differentiated endometrialadenocarcinoma 3 pooled tumors (2), neuroblastoma (2) well-differentiated endometrialadenocarcinoma 7 pooled tumors (2) Validated 3' end, 9 accessions 216 bp exon 269 bp exon 269 bp exon 1234 bp [gt-ag] intron 243 GenBank accessions 187387 RNA-seq supporting reads 20528 UHR pooled cells 20638 Brain 9038 Blood 136389 Neuroblastoma 794 Other (also 7787 Primates bodymap) 165 bp exon 238 bp [gt-ag] intron 176 GenBank accessions 182322 RNA-seq supporting reads 23462 UHR pooled cells 21352 Brain 7040 Blood 129661 Neuroblastoma 807 Other (also 7095 Primates bodymap) 122 bp exon 81 bp [gt-ag] intron 165 GenBank accessions 249662 RNA-seq supporting reads 29692 UHR pooled cells 29132 Brain 9411 Blood 180134 Neuroblastoma 1293 Other (also 8612 Primates bodymap) 97 bp exon 79 bp [gt-ag] intron 138 GenBank accessions 212849 RNA-seq supporting reads 28236 UHR pooled cells 26550 Brain 7416 Blood 149641 Neuroblastoma 1006 Other (also 6275 Primates bodymap) 87 bp exon 2060 bp [gt-ag] intron 113 GenBank accessions 241381 RNA-seq supporting reads 30499 UHR pooled cells 29541 Brain 8969 Blood 171418 Neuroblastoma 954 Other (also 8945 Primates bodymap) 106 bp exon 1212 bp [gt-ag] intron 2 GenBank accessions 1527 RNA-seq supporting reads 261 UHR pooled cells 111 Brain 35 Blood 1117 Neuroblastoma 3 Other 62 bp exon 83 bp [gt-ag] intron 110 GenBank accessions 207261 RNA-seq supporting reads 23806 UHR pooled cells 25082 Brain 6560 Blood 151406 Neuroblastoma 407 Other (also 7397 Primates bodymap) 214 bp exon 2 accessions, NM_013407.1 Validated 3' end, 2 accessions 214 bp exon 269 bp exon 269 bp exon 1234 bp [gt-ag] intron 243 GenBank accessions 187387 RNA-seq supporting reads 20528 UHR pooled cells 20638 Brain 9038 Blood 136389 Neuroblastoma 794 Other (also 7787 Primates bodymap) 165 bp exon 238 bp [gt-ag] intron 176 GenBank accessions 182322 RNA-seq supporting reads 23462 UHR pooled cells 21352 Brain 7040 Blood 129661 Neuroblastoma 807 Other (also 7095 Primates bodymap) 122 bp exon 81 bp [gt-ag] intron 165 GenBank accessions 249662 RNA-seq supporting reads 29692 UHR pooled cells 29132 Brain 9411 Blood 180134 Neuroblastoma 1293 Other (also 8612 Primates bodymap) 97 bp exon 79 bp [gt-ag] intron 138 GenBank accessions 212849 RNA-seq supporting reads 28236 UHR pooled cells 26550 Brain 7416 Blood 149641 Neuroblastoma 1006 Other (also 6275 Primates bodymap) 87 bp exon 2060 bp [gt-ag] intron 113 GenBank accessions 241381 RNA-seq supporting reads 30499 UHR pooled cells 29541 Brain 8969 Blood 171418 Neuroblastoma 954 Other (also 8945 Primates bodymap) 106 bp exon 1148 bp [gt-ag] intron 13 GenBank accessions 18484 RNA-seq supporting reads 2120 UHR pooled cells 1653 Brain 968 Blood 13701 Neuroblastoma 42 Other (also 48 Primates bodymap) 126 bp exon 126 bp exon 83 bp [gt-ag] intron 110 GenBank accessions 207261 RNA-seq supporting reads 23806 UHR pooled cells 25082 Brain 6560 Blood 151406 Neuroblastoma 407 Other (also 7397 Primates bodymap) 15 accessions, some from brain (seen 4 times) anaplastic oligodendroglioma with 1p/19qloss (once) B cells (ramos cell line) cot 25-normalized (once) four pooled pituitary adenomas (once) frontal lobe (once) Validated 3' end, 5 accessions 217 bp exon 340 bp exon 7 accessions, some from bone marrow (seen once) brain (once), cerebellum (once) eye (once), hypothalamus (once) 340 bp exon 28 bp exon 979 bp [gt-ag] intron 1 GenBank accession 1460 RNA-seq supporting reads 60 UHR pooled cells 54 Brain 1339 Neuroblastoma 7 Other (also 64 Primates bodymap) 165 bp exon 165 bp exon 238 bp [gt-ag] intron 176 GenBank accessions 182322 RNA-seq supporting reads 23462 UHR pooled cells 21352 Brain 7040 Blood 129661 Neuroblastoma 807 Other (also 7095 Primates bodymap) 122 bp exon 81 bp [gt-ag] intron 165 GenBank accessions 249662 RNA-seq supporting reads 29692 UHR pooled cells 29132 Brain 9411 Blood 180134 Neuroblastoma 1293 Other (also 8612 Primates bodymap) 97 bp exon 79 bp [gt-ag] intron 138 GenBank accessions 212849 RNA-seq supporting reads 28236 UHR pooled cells 26550 Brain 7416 Blood 149641 Neuroblastoma 1006 Other (also 6275 Primates bodymap) 87 bp exon 2060 bp [gt-ag] intron 113 GenBank accessions 241381 RNA-seq supporting reads 30499 UHR pooled cells 29541 Brain 8969 Blood 171418 Neuroblastoma 954 Other (also 8945 Primates bodymap) 106 bp exon 79 bp [gt-ag] intron 77 GenBank accessions 216927 RNA-seq supporting reads 26813 UHR pooled cells 27637 Brain 8307 Blood 153464 Neuroblastoma 706 Other (also 9446 Primates bodymap) 104 bp exon 1029 bp [gt-ag] intron 1 GenBank accession 2213 RNA-seq supporting reads 402 UHR pooled cells 216 Brain 36 Blood 1554 Neuroblastoma 5 Other (also 1 Primates bodymap) 62 bp exon 83 bp [gt-ag] intron 110 GenBank accessions 207261 RNA-seq supporting reads 23806 UHR pooled cells 25082 Brain 6560 Blood 151406 Neuroblastoma 407 Other (also 7397 Primates bodymap) 216 bp exon 2 accessions, some from cell lines (seen once) chondrosarcoma (once) leiomyosarcoma (once) uterus (once) Validated 3' end, 1 accession 216 bp exon 268 bp exon 268 bp exon 1234 bp [gt-ag] intron 243 GenBank accessions 187387 RNA-seq supporting reads 20528 UHR pooled cells 20638 Brain 9038 Blood 136389 Neuroblastoma 794 Other (also 7787 Primates bodymap) 165 bp exon 238 bp [gt-ag] intron 176 GenBank accessions 182322 RNA-seq supporting reads 23462 UHR pooled cells 21352 Brain 7040 Blood 129661 Neuroblastoma 807 Other (also 7095 Primates bodymap) 122 bp exon 81 bp [gt-ag] intron 165 GenBank accessions 249662 RNA-seq supporting reads 29692 UHR pooled cells 29132 Brain 9411 Blood 180134 Neuroblastoma 1293 Other (also 8612 Primates bodymap) 257 bp exon 1 accession from t-lymphocytes 257 bp exon 133 bp exon 133 bp exon 707 bp [gt-ag] intron 8 GenBank accessions 1788 RNA-seq supporting reads 455 UHR pooled cells 487 Brain 5 Blood 795 Neuroblastoma 46 Other 165 bp exon 238 bp [gt-ag] intron 176 GenBank accessions 182322 RNA-seq supporting reads 23462 UHR pooled cells 21352 Brain 7040 Blood 129661 Neuroblastoma 807 Other (also 7095 Primates bodymap) 122 bp exon 81 bp [gt-ag] intron 165 GenBank accessions 249662 RNA-seq supporting reads 29692 UHR pooled cells 29132 Brain 9411 Blood 180134 Neuroblastoma 1293 Other (also 8612 Primates bodymap) 1 accession from thalamus capped 5' end, 1 accession 148 bp exon 269 bp exon 269 bp exon 387 bp uORF 1234 bp [gt-ag] intron 243 GenBank accessions 187387 RNA-seq supporting reads 20528 UHR pooled cells 20638 Brain 9038 Blood 136389 Neuroblastoma 794 Other (also 7787 Primates bodymap) 387 bp uORF 525 bp exon 525 bp exon 81 bp [gt-ag] intron 165 GenBank accessions 249662 RNA-seq supporting reads 29692 UHR pooled cells 29132 Brain 9411 Blood 180134 Neuroblastoma 1293 Other (also 8612 Primates bodymap) 263 bp exon 263 bp exon 263 bp exon 2060 bp [gt-ag] intron 113 GenBank accessions 241381 RNA-seq supporting reads 30499 UHR pooled cells 29541 Brain 8969 Blood 171418 Neuroblastoma 954 Other (also 8945 Primates bodymap) 106 bp exon 106 bp exon 79 bp [gt-ag] intron 77 GenBank accessions 216927 RNA-seq supporting reads 26813 UHR pooled cells 27637 Brain 8307 Blood 153464 Neuroblastoma 706 Other (also 9446 Primates bodymap) 104 bp exon 104 bp exon 965 bp [gt-ag] intron 69 GenBank accessions 181473 RNA-seq supporting reads 22236 UHR pooled cells 23441 Brain 6760 Blood 128590 Neuroblastoma 446 Other (also 6104 Primates bodymap) 126 bp exon 126 bp exon 83 bp [gt-ag] intron 110 GenBank accessions 207261 RNA-seq supporting reads 23806 UHR pooled cells 25082 Brain 6560 Blood 151406 Neuroblastoma 407 Other (also 7397 Primates bodymap) 208 bp exon 208 bp exon 51 accessions, some from thymus (seen 13 times) spleen (9), cerebellum (3) uterus (3), amygdala (2) capped 5' end, 2 accessions 208 bp exon 269 bp exon 269 bp exon 1234 bp [gt-ag] intron 243 GenBank accessions 187387 RNA-seq supporting reads 20528 UHR pooled cells 20638 Brain 9038 Blood 136389 Neuroblastoma 794 Other (also 7787 Primates bodymap) 124 bp exon 8957 bp [gc-ag] intron 1 GenBank accession (also 7 Primates bodymap) 144 bp exon 6 accessions, some from uterus (seen 2 times) brain (once), leg muscle (once) skeletal muscle (once) spleen (once) 144 bp exon 269 bp exon 269 bp exon 1234 bp [gt-ag] intron 243 GenBank accessions 187387 RNA-seq supporting reads 20528 UHR pooled cells 20638 Brain 9038 Blood 136389 Neuroblastoma 794 Other (also 7787 Primates bodymap) 124 bp exon 279 bp [gc-ag] intron 3 GenBank accessions 2098 RNA-seq supporting reads 93 UHR pooled cells 358 Brain 41 Blood 1591 Neuroblastoma 15 Other (also 9 Primates bodymap) 122 bp exon 122 bp exon 81 bp [gt-ag] intron 165 GenBank accessions 249662 RNA-seq supporting reads 29692 UHR pooled cells 29132 Brain 9411 Blood 180134 Neuroblastoma 1293 Other (also 8612 Primates bodymap) 3 accessions, some from brain (seen once) cerebellum (once), corpus callosum (once) 58 bp exon 56 bp exon 56 bp exon 67 bp [gt-ag] intron 1 GenBank accession 290 RNA-seq supporting reads 33 UHR pooled cells 19 Brain 5 Blood 232 Neuroblastoma 1 Other (also 4 Primates bodymap) 229 bp exon 1 accession from kidney Validated 3' end, 1 accession 229 bp exon 269 bp exon 269 bp exon 1234 bp [gt-ag] intron 243 GenBank accessions 187387 RNA-seq supporting reads 20528 UHR pooled cells 20638 Brain 9038 Blood 136389 Neuroblastoma 794 Other (also 7787 Primates bodymap) 118 bp exon 285 bp [gt-ag] intron 2 GenBank accessions 47 RNA-seq supporting reads 6 UHR pooled cells 5 Brain 35 Neuroblastoma 1 Other 99 bp exon 2 accessions, some from brain (seen once) kidney, tumor tissue (once) 99 bp exon 178 bp exon 178 bp exon 707 bp [gt-ag] intron 8 GenBank accessions 1788 RNA-seq supporting reads 455 UHR pooled cells 487 Brain 5 Blood 795 Neuroblastoma 46 Other 176 bp exon 227 bp [gt-ag] intron 13 GenBank accessions 6901 RNA-seq supporting reads 522 UHR pooled cells 512 Brain 184 Blood 5653 Neuroblastoma 30 Other 122 bp exon 122 bp exon 81 bp [gt-ag] intron 165 GenBank accessions 249662 RNA-seq supporting reads 29692 UHR pooled cells 29132 Brain 9411 Blood 180134 Neuroblastoma 1293 Other (also 8612 Primates bodymap) 1 accession from cerebellum capped 5' end, 1 accession 63 bp exon 165 bp exon 130 bp [gt-ag] intron 1 GenBank accession 176 RNA-seq supporting reads 27 UHR pooled cells 13 Brain 6 Blood 128 Neuroblastoma 2 Other (also 4 Primates bodymap) 230 bp exon 81 bp [gt-ag] intron 165 GenBank accessions 249662 RNA-seq supporting reads 29692 UHR pooled cells 29132 Brain 9411 Blood 180134 Neuroblastoma 1293 Other (also 8612 Primates bodymap) 97 bp exon 97 bp exon 79 bp [gt-ag] intron 138 GenBank accessions 212849 RNA-seq supporting reads 28236 UHR pooled cells 26550 Brain 7416 Blood 149641 Neuroblastoma 1006 Other (also 6275 Primates bodymap) 87 bp exon 2060 bp [gt-ag] intron 113 GenBank accessions 241381 RNA-seq supporting reads 30499 UHR pooled cells 29541 Brain 8969 Blood 171418 Neuroblastoma 954 Other (also 8945 Primates bodymap) 840 bp exon 4 accessions, some from b-cells (seen once) brain (once), primary b-cells from tonsils (cell line) (once) 840 bp exon 269 bp exon 269 bp exon 1234 bp [gt-ag] intron 243 GenBank accessions 187387 RNA-seq supporting reads 20528 UHR pooled cells 20638 Brain 9038 Blood 136389 Neuroblastoma 794 Other (also 7787 Primates bodymap) 176 bp exon 227 bp [gt-ag] intron 13 GenBank accessions 6901 RNA-seq supporting reads 522 UHR pooled cells 512 Brain 184 Blood 5653 Neuroblastoma 30 Other 122 bp exon 122 bp exon 81 bp [gt-ag] intron 165 GenBank accessions 249662 RNA-seq supporting reads 29692 UHR pooled cells 29132 Brain 9411 Blood 180134 Neuroblastoma 1293 Other (also 8612 Primates bodymap) 97 bp exon 79 bp [gt-ag] intron 138 GenBank accessions 212849 RNA-seq supporting reads 28236 UHR pooled cells 26550 Brain 7416 Blood 149641 Neuroblastoma 1006 Other (also 6275 Primates bodymap) 87 bp exon 2080 bp [gt-ag] intron 2 GenBank accessions 3551 RNA-seq supporting reads 409 UHR pooled cells 205 Brain 7 Blood 2918 Neuroblastoma 12 Other (also 3 Primates bodymap) 15 accessions, some from cerebellum (seen 4 times) thymus (3), spleen (2) brain (once), human placenta (once) capped 5' end, 4 accessions 287 bp exon 269 bp exon 1234 bp [gt-ag] intron 243 GenBank accessions 187387 RNA-seq supporting reads 20528 UHR pooled cells 20638 Brain 9038 Blood 136389 Neuroblastoma 794 Other (also 7787 Primates bodymap) 130 bp exon 273 bp [gt-ag] intron 17 GenBank accessions 8622 RNA-seq supporting reads 589 UHR pooled cells 1289 Brain 9 Blood 6689 Neuroblastoma 46 Other (also 1 Primates bodymap) 122 bp exon 81 bp [gt-ag] intron 165 GenBank accessions 249662 RNA-seq supporting reads 29692 UHR pooled cells 29132 Brain 9411 Blood 180134 Neuroblastoma 1293 Other (also 8612 Primates bodymap) 97 bp exon 97 bp exon 79 bp [gt-ag] intron 138 GenBank accessions 212849 RNA-seq supporting reads 28236 UHR pooled cells 26550 Brain 7416 Blood 149641 Neuroblastoma 1006 Other (also 6275 Primates bodymap) 87 bp exon 2060 bp [gt-ag] intron 113 GenBank accessions 241381 RNA-seq supporting reads 30499 UHR pooled cells 29541 Brain 8969 Blood 171418 Neuroblastoma 954 Other (also 8945 Primates bodymap) 106 bp exon 79 bp [gt-ag] intron 77 GenBank accessions 216927 RNA-seq supporting reads 26813 UHR pooled cells 27637 Brain 8307 Blood 153464 Neuroblastoma 706 Other (also 9446 Primates bodymap) 16 accessions, some from uterus (seen 6 times) corpus callosum (4), anaplastic oligodendroglioma with 1p/19qloss (once) brain (once), cornea (once) 44 bp exon 376 bp exon 81 bp [gt-ag] intron 165 GenBank accessions 249662 RNA-seq supporting reads 29692 UHR pooled cells 29132 Brain 9411 Blood 180134 Neuroblastoma 1293 Other (also 8612 Primates bodymap) 97 bp exon 97 bp exon 79 bp [gt-ag] intron 138 GenBank accessions 212849 RNA-seq supporting reads 28236 UHR pooled cells 26550 Brain 7416 Blood 149641 Neuroblastoma 1006 Other (also 6275 Primates bodymap) 82 bp exon 2 accessions, some from thymus (seen 2 times) capped 5' end, 2 accessions 82 bp exon 86 bp exon 273 bp [gt-ag] intron 17 GenBank accessions 8622 RNA-seq supporting reads 589 UHR pooled cells 1289 Brain 9 Blood 6689 Neuroblastoma 46 Other (also 1 Primates bodymap) 122 bp exon 81 bp [gt-ag] intron 165 GenBank accessions 249662 RNA-seq supporting reads 29692 UHR pooled cells 29132 Brain 9411 Blood 180134 Neuroblastoma 1293 Other (also 8612 Primates bodymap) 97 bp exon 97 bp exon 79 bp [gt-ag] intron 138 GenBank accessions 212849 RNA-seq supporting reads 28236 UHR pooled cells 26550 Brain 7416 Blood 149641 Neuroblastoma 1006 Other (also 6275 Primates bodymap) 87 bp exon 2080 bp [gt-ag] intron 2 GenBank accessions 3551 RNA-seq supporting reads 409 UHR pooled cells 205 Brain 7 Blood 2918 Neuroblastoma 12 Other (also 3 Primates bodymap) 106 bp exon 1 accession from eye from iris 106 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 1465 bp 369 aa 62 bp 293 bp 2kb including Promoter 6284 bp 1kb
bAug10 1172 bp 358 aa 95 bp 2kb 5464 bp 1kb
cAug10 1149 bp 322 aa 62 bp 118 bp 2kb probably including promoter 6109 bp 1kb
dAug10 2257 bp 319 aa 62 bp 1235 bp 2kb probably including promoter 6111 bp 1kb
eAug10 1122 bp 313 aa 62 bp 118 bp 2kb probably including promoter 6109 bp 1kb
fAug10 1189 bp 277 aa 62 bp 293 bp 2kb probably including promoter 6112 bp 1kb
gAug10 987 bp 240 aa 190 bp 74 bp 2kb possibly including promoter 5615 bp 1kb
hAug10 812 bp 216 aa 61 bp 100 bp 2kb probably including promoter 2365 bp 1kb
iAug10 568 bp 172 aa 52 bp 2kb including Promoter 1594 bp 1kb
jAug10 1601 bp 164 aa 994 bp 112 bp 384 bp 2kb including Promoter 6103 bp 1kb
kAug10 537 bp 158 aa 62 bp 2kb probably including promoter 10728 bp 1kb
lAug10 573 bp 137 aa 62 bp 97 bp 2kb probably including promoter 2167 bp 1kb
mAug10 486 bp 135 aa 62 bp 16 bp 2kb probably including promoter 2005 bp 1kb
nAug10 539 bp 90 aa 97 bp 169 bp 2kb including Promoter 1554 bp 1kb
oAug10 285 bp 70 aa 71 bp 2kb 352 bp 1kb
pAug10 1419 bp 97 aa 450 bp 675 bp 2kb 3769 bp 1kb
qAug10 1038 bp 132 aa 62 bp 577 bp 2kb including Promoter 4739 bp 1kb
rAug10 855 bp 93 aa 576 bp 2kb probably including promoter 4661 bp 1kb
sAug10 555 bp 41 aa 431 bp 2kb including Promoter 715 bp 1kb
tAug10 498 bp 70 aa 263 bp 22 bp 2kb 3011 bp 1kb
uAug10-unspliced 340 bp 69 aa 133 bp 2kb 340 bp 1kb

Gene neighbors and Navigator on chromosome 19p13 back to top
G C R RPS2P53 C R PGK1P2 D C P ZNF791 C R WDR83 C I R P C ASNA1 D C I R P BEST2 D C R P JUNB D C I R P R RNASEH2A D C R P R MAST1 C I R P R GCDHandRPS6P25 D C I R P CALR D C I R P RAD23A D C I R P DAND5 C R P NFIX C I R P NACC1 D C I R P IER2 C R P RPL28P5 C I R P ZNF44 C C R ZNF563 R C R ZNF442 C R ZNF799 C I R P ZNF490_ P D C I R P C19orf56andMAN2B1andRPL10P16 C I R P DHPS C C I R P FBXW9 C I R P TNPO2 P SNORD41 C I R C19orf43 C I R P HOOK2 D C I R P PRDX2 D C R P RTBDN C I R P DNASE2 D C I P KLF1 C R P SYCE2 D C I R P FARSA C I R P GADD45GIP1 D C I R P LYL1 C I R P TRMT1 R C R P STX10 100kb 0 ZNF136, 133 accessions 8 variants LOC730651, 65 accessions 8 variants RPS2P53, 1 accession rawsey, 3 accessions PGK1P2, 3 accessions ZNF791, 372 accessions 11 variants WDR83, 142 accessions 15 variants beekaw, 7 accessions ASNA1, 564 accessions 7 variants BEST2, 16 accessions, 2 variants JUNB, 457 accessions, 2 variants torjaw, 1 accession RNASEH2A, 339 accessions 7 variants tarsey, 8 accessions, 2 variants MAST1, 122 accessions 12 variants tawsey, 1 accession GCDHandRPS6P25, 392 accessions 23 variants CALR, 379 accessions, 6 variants RAD23A, 541 accessions 14 variants DAND5, 16 accessions, 3 variants NFIX, 352 accessions, 17 variants NACC1, 195 accessions 4 variants IER2, 549 accessions, 5 variants jeegla, 1 accession yoyuri, 2 accessions kargla, 1 accession tartobu, 1 accession tawtobu, 1 accession mogla, 1 accession margla, 1 accession kysawbo, 1 accession torchu, 1 accession RPL28P5, 2 accessions neygla, 1 accession vatobu, 1 accession rygla, 1 accession vartobu, 2 accessions vawtobu, 6 accessions veetobu, 1 accession soneru, 6 accessions vortobu, 1 accession hiyuri, 1 accession steekar, 1 accession wytobu, 1 accession veegla, 1 accession wutobu, 1 accession namoma, 1 accession wagla, 1 accession cheygla, 1 accession shygla, 1 accession shoychu, 1 accession swukar, 1 accession flargla, 3 accessions florgla, 1 accession sosey, 1 accession zutobu, 1 accession zartobu, 1 accession klychu, 1 accession swokar, 1 accession sweekar, 2 accessions kawsawbo, 2 accessions zeytobu, 1 accession slachu, 1 accession hoyuri, 2 accessions bukaw, 1 accession nuyuri, 5 accessions sleegla, 1 accession chatobu, 1 accession dykaw, 3 accessions spogla, 1 accession tusey, 1 accession tosey, 1 accession steychu, 1 accession chartobu, 2 accessions smoypar, 1 accession swoychu, 1 accession steygla, 1 accession stoygla, 2 accessions swugla, 2 accessions bawcho, 1 accession bugly, 1 accession chertobu, 1 accession dogly, 2 accessions gawkaw, 1 accession noyuri, 1 accession chortobu, 1 accession dercho, 1 accession jawkaw, 5 accessions gugly, 2 accessions gorgly, 1 accession charwy, 7 accessions kargly, 1 accession swopar, 1 accession kergly, 1 accession koygly, 2 accessions lugly, 1 accession nagly, 1 accession swoypar, 1 accession tuyuri, 1 accession chawwy, 1 accession kerta, 1 accession norgly, 2 accessions pawgly, 1 accession keysawbo, 2 accessions porgly, 1 accession sawgly, 7 accessions toyuri, 1 accession seygly, 1 accession blytobu, 1 accession cherwy, 2 accessions wataru, 5 accessions tygly, 3 accessions koysawbo, 1 accession fapaw, 3 accessions jeygla, 2 accessions kawgla, 3 accessions teechu, 1 accession totobu, 1 accession tertobu, 1 accession teytobu, 1 accession pagla, 1 accession mayuri, 1 accession toytobu, 1 accession rugla, 2 accessions vytobu, 2 accessions vutobu, 2 accessions votobu, 1 accession vuchu, 1 accession rergla, 1 accession kusawbo, 1 accession typar, 2 accessions teepar, 3 accessions sagla, 1 accession stawkar, 1 accession meyuri, 1 accession kaneru, 1 accession vertobu, 1 accession veytobu, 2 accessions torgla, 2 accessions moyuri, 2 accessions woypar, 1 accession veygla, 1 accession vorgla, 2 accessions sherchu, 1 accession leylor, 6 accessions heyuri, 3 accessions wotobu, 1 accession voygla, 2 accessions zargla, 1 accession shagla, 1 accession jobey, 1 accession zeywa, 3 accessions wawtobu, 1 accession roysey, 2 accessions, 2 variants swakar, 1 accession weetobu, 1 accession sasey, 2 accessions blachu, 1 accession chawseebu, 1 accession blugla, 2 accessions flygla, 1 accession fleegla, 6 accessions kosawbo, 1 accession gleegla, 1 accession klawpar, 1 accession zertobu, 1 accession pleechu, 1 accession skapar, 1 accession sleypar, 1 accession jeebey, 2 accessions smerchu, 1 accession smupar, 1 accession speechu, 1 accession sloygla, 1 accession berkaw, 2 accessions snorgla, 2 accessions tysey, 4 accessions dorkaw, 2 accessions fakaw, 1 accession spergla, 1 accession smawpar, 1 accession stygla, 1 accession loyter, 1 accession stergla, 1 accession swagla, 1 accession feykaw, 1 accession gokaw, 1 accession bercho, 1 accession choytobu, 2 accessions dargly, 1 accession tayuri, 1 accession shatobu, 2 accessions shutobu, 2 accessions sporpar, 1 accession kersawbo, 2 accessions feegly, 1 accession shartobu, 1 accession shawtobu, 1 accession dorcho, 1 accession gagly, 1 accession kakaw, 1 accession kagly, 1 accession kugly, 1 accession kogly, 1 accession fawcho, 1 accession leegly, 1 accession mawgly, 1 accession meegly, 2 accessions cheewy, 2 accessions sheytobu, 1 accession blatobu, 3 accessions seegly, 1 accession garcho, 1 accession blutobu, 1 accession ZNF44, 206 accessions 18 variants starkar, 1 accession ZNF563, 46 accessions 4 variants teygla, 9 accessions ZNF442, 24 accessions 5 variants ZNF799, 71 accessions 5 variants ZNF490_, 268 accessions 22 variants huyuri, 2 accessions C19orf56andMAN2B1andRPL10P16 577 accessions, 26 variants DHPS, 366 accessions, 21 variants sleychu, 1 accession FBXW9, 167 accessions 5 variants TNPO2, 495 accessions 19 variants SNORD41, 1 accession C19orf43, 559 accessions 6 variants HOOK2, 267 accessions 23 variants PRDX2, 501 accessions 10 variants RTBDN, 86 accessions, 12 variants DNASE2, 364 accessions 5 variants KLF1, 17 accessions, 2 variants SYCE2, 24 accessions, 3 variants FARSA, 316 accessions 10 variants GADD45GIP1, 388 accessions 2 variants LYL1, 92 accessions, 3 variants TRMT1, 453 accessions 27 variants korta, 5 accessions, 2 variants STX10, 303 accessions 9 variants ZOOM IN                D:disease,C:conserved,I:interactions,R:regulation,P:publications         Read more...
Annotated mRNA diagrams back to top
Bibliography:               17 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-u Alternative mRNAs features, proteins, introns, exons, sequences Expression Tissue Function, regulation, related genes CI

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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