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

    Gene ID: 100507557, updated on 10-Dec-2024

    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_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (145734869..145886585)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (146927924..147079650)
    RS_2024_09 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)

    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
      ENST00000452617.8

    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_2024_08

    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

    Gene LinkOut

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