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ESPNP espin pseudogene [ Homo sapiens (human) ]

Gene ID: 284729, updated on 17-Sep-2024

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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See ESPNP in Genome Data Viewer
Location:
1p36.13
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (16691218..16720157, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (16406821..16435788, complement)
RS_2024_09 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 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_2024_08

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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