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    ESPNP espin pseudogene [ Homo sapiens (human) ]

    Gene ID: 284729, updated on 10-Oct-2023

    Summary

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    Official Symbol
    ESPNPprovided by HGNC
    Official Full Name
    espin pseudogeneprovided by HGNC
    Primary source
    HGNC:HGNC:23285
    See related
    AllianceGenome:HGNC:23285
    Gene type
    pseudo
    RefSeq status
    PROVISIONAL
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    dJ1182A14.1
    Expression
    Low expression observed in reference dataset See more
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    Genomic context

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    Location:
    1p36.13
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (16691218..16720157, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (16406821..16435788, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (17017713..17046652, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene tRNA-Gly (CCC) 4-1 Neighboring gene EIF1AX pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17019619-17020445 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17020446-17021273 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:17021274-17022100 Neighboring gene uncharacterized LOC124903858 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17027493-17028178 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17034088-17034627 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17034628-17035166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17043745-17044298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17044853-17045406 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17045407-17045959 Neighboring gene tRNA-Val (CAC) 13-1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17053781-17054392 Neighboring gene tRNA-Gly (CCC) 5-1

    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. Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction. Naz S, et al. J Med Genet, 2004 Aug. PMID 15286153, Free PMC Article
    2. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article

    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 studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Clone Names

    • FLJ60011

    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_026567.1 RNA Sequence

      Status: PROVISIONAL

      Source sequence(s)
      AL035288

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      16691218..16720157 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791756.1 Reference GRCh38.p14 PATCHES

      Range
      816482..845437
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      16406821..16435788 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_007649.1: Suppressed sequence

      Description
      NG_007649.1: This RefSeq was permanently suppressed because it is now thought that this gene is a transcribed pseudogene.
    Nucleotide Protein
    Heading Accession and Version

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