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    C4orf54 chromosome 4 open reading frame 54 [ Homo sapiens (human) ]

    Gene ID: 285556, updated on 16-Mar-2024

    Summary

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    Official Symbol
    C4orf54provided by HGNC
    Official Full Name
    chromosome 4 open reading frame 54provided by HGNC
    Primary source
    HGNC:HGNC:27741
    See related
    Ensembl:ENSG00000248713 MIM:617881; AllianceGenome:HGNC:27741
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FOPV
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See C4orf54 in Genome Data Viewer
    Location:
    4q23
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (99636529..99657828, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (102951958..102973264, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (100557686..100578985, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:100484300-100485499 Neighboring gene tRNA methyltransferase 10A Neighboring gene microsomal triglyceride transfer protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21741 Neighboring gene dual adaptor of phosphotyrosine and 3-phosphoinositides 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15583 Neighboring gene late endosomal/lysosomal adaptor, MAPK and MTOR activator 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. Mutations in the novel gene FOPV are associated with familial autosomal dominant and non-familial obliterative portal venopathy. Besmond C, et al. Liver Int, 2018 Feb. PMID 28792652
    2. Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs. Adkins DE, et al. Mol Psychiatry, 2011 Mar. PMID 20195266, Free PMC Article
    3. A genome-wide RNAi screen identifies multiple synthetic lethal interactions with the Ras oncogene. Luo J, et al. Cell, 2009 May 29. PMID 19490893, Free PMC Article
    4. Molecular Characterization of the Oncogene BTF3 and Its Targets in Colorectal Cancer. Wang H, et al. Front Cell Dev Biol, 2020. PMID 33644029, Free PMC Article
    5. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. Bennett EJ, et al. Cell, 2010 Dec 10. PMID 21145461, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.
    EBI GWAS Catalog

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    General protein information

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    Preferred Names
    uncharacterized protein C4orf54
    Names
    familial obliterative portal venopathy

    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.

    mRNA and Protein(s)

    1. NM_001354435.2 → NP_001341364.1  uncharacterized protein C4orf54

      Status: VALIDATED

      Source sequence(s)
      AC083902
      Consensus CDS
      CCDS87246.1
      UniProtKB/Swiss-Prot
      D6RIA3
      Related
      ENSP00000427555.1, ENST00000511828.2
      Conserved Domains (1) summary
      pfam15232
      Location:1610 → 1672
      DUF4585; Domain of unknown function (DUF4585)

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      99636529..99657828 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_373030.12 → XP_373030.5  uncharacterized protein C4orf54 isoform X1

      See identical proteins and their annotated locations for XP_373030.5

      Conserved Domains (1) summary
      pfam15232
      Location:1643 → 1705
      DUF4585; Domain of unknown function (DUF4585)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      102951958..102973264 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349792.1 → XP_054205767.1  uncharacterized protein C4orf54 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    D6RIA3.1 GenPept UniProtKB/Swiss-Prot:D6RIA3

    Gene LinkOut

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