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EPM2A-DT EPM2A divergent transcript [ Homo sapiens (human) ]

Gene ID: 100507557, updated on 10-Oct-2023

Summary

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Official Symbol
EPM2A-DTprovided by HGNC
Official Full Name
EPM2A divergent transcriptprovided by HGNC
Primary source
HGNC:HGNC:48990
See related
Ensembl:ENSG00000235652 AllianceGenome:HGNC:48990
Gene type
ncRNA
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FBXO30-DT
Expression
Ubiquitous expression in ovary (RPKM 3.9), thyroid (RPKM 3.8) and 25 other tissues See more
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Genomic context

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See EPM2A-DT in Genome Data Viewer
Location:
6q24.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (145734869..145886585)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (146927924..147079650)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (146056005..146207721)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene EPM2A glucan phosphatase, laforin Neighboring gene RNA, U1 small nuclear 33, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:145851539-145852203 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:145852204-145852867 Neighboring gene zinc finger protein 131 pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:145852881-145853456 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:145853457-145854032 Neighboring gene NANOG hESC enhancer GRCh37_chr6:145874002-145874503 Neighboring gene Sharpr-MPRA regulatory region 3301 Neighboring gene Sharpr-MPRA regulatory region 9117 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:145994233-145994904 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:145994905-145995576 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25225 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25226 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17642 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25224 Neighboring gene uncharacterized LOC105378039 Neighboring gene uncharacterized LOC124901419 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:146135340-146135894 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25227 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25228 Neighboring gene F-box protein 30 Neighboring gene uncharacterized LOC124901420 Neighboring gene SNF2 histone linker PHD RING helicase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25229 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:146285382-146286369 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:146350016-146350516 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:146350517-146351017 Neighboring gene glutamate metabotropic receptor 1 Neighboring gene FUN14 domain containing 2 pseudogene 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Recounting the FANTOM CAGE-Associated Transcriptome. Imada EL, et al. Genome Res, 2020 Jul. PMID 32079618, Free PMC Article
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Markers

Other Names

  • FBXO30 divergent transcript

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

RNA

  1. NR_038244.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript.
    Source sequence(s)
    AK311235, AL356599, BC043592, DC313089
    Related
    ENST00000452617.7

  2. NR_038245.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an internal exon, compared to variant 1.
    Source sequence(s)
    AK311235, AL356599, DC313089
    Related
    ENST00000654828.1

  3. NR_038246.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' exon and lacks an internal exon, compared to variant 1.
    Source sequence(s)
    AK124757, AK311235, AL356599, DB465589

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    145734869..145886585
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    146927924..147079650
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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