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    EP400P1 EP400 pseudogene 1 [ Homo sapiens (human) ]

    Gene ID: 347918, updated on 10-Dec-2024

    Summary

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    Official Symbol
    EP400P1provided by HGNC
    Official Full Name
    EP400 pseudogene 1provided by HGNC
    Primary source
    HGNC:HGNC:26602
    See related
    Ensembl:ENSG00000291171 AllianceGenome:HGNC:26602
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EP400NL
    Expression
    Broad expression in testis (RPKM 5.0), spleen (RPKM 1.9) and 25 other tissues See more
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    Genomic context

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    See EP400P1 in Genome Data Viewer
    Location:
    12q24.33
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (132084283..132126340)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (132133123..132175778)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (132568828..132610885)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5107 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_25941 Neighboring gene Sharpr-MPRA regulatory region 9670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5108 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5109 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:132434951-132435658 Neighboring gene pseudouridine synthase 1 Neighboring gene Sharpr-MPRA regulatory region 13568 Neighboring gene E1A binding protein p400 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132470576-132471195 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:132471868-132472518 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:132473169-132473818 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:132490339-132491538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132498351-132499144 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132499145-132499938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132499948-132500448 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:132508440-132509639 Neighboring gene Sharpr-MPRA regulatory region 9648 Neighboring gene small nucleolar RNA, H/ACA box 49 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:132534021-132534992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132567429-132567930 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5110 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5111 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:132569347-132570207 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:132570983-132571159 Neighboring gene uncharacterized LOC107987169 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132611691-132612191 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132626950-132627855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7375 Neighboring gene DEAD-box helicase 51 Neighboring gene nucleolar complex associated 4 homolog

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. EP400NL is involved in PD-L1 gene activation by forming a transcriptional coactivator complex. Li Z, et al. Biochim Biophys Acta Gene Regul Mech, 2023 Mar. PMID 36328277
    2. A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly. Chouraki V, et al. Mol Psychiatry, 2014 Dec. PMID 24535457, Free PMC Article
    3. Gsk3β and Tomm20 are substrates of the SCFFbxo7/PARK15 ubiquitin ligase associated with Parkinson's disease. Teixeira FR, et al. Biochem J, 2016 Oct 15. PMID 27503909, Free PMC Article
    4. Systematic bromodomain protein screens identify homologous recombination and R-loop suppression pathways involved in genome integrity. Kim JJ, et al. Genes Dev, 2019 Dec 1. PMID 31753913, Free PMC Article
    5. 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

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. EP400NL is involved in PD-L1 gene activation by forming a transcriptional coactivator complex.
      Title: EP400NL is involved in PD-L1 gene activation by forming a transcriptional coactivator complex.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly.
    EBI GWAS Catalog

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Other Names

    • E1A binding protein p400 pseudogene
    • EP400 N-terminal like

    Clone Names

    • FLJ33915, FLJ44224, FLJ46340, MGC87589, DKFZp434I225

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    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_003290.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AK091234, AK126212, AK128208, BC015414
      Related
      ENST00000488030.5

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      132084283..132126340
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160007.1 Reference GRCh38.p14 PATCHES

      Range
      15601..33369
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      132133123..132175778
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_182613.1: Suppressed sequence

      Description
      NM_182613.1: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZTU2.2 GenPept UniProtKB/Swiss-Prot:Q6ZTU2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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