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    C5orf47 chromosome 5 open reading frame 47 [ Homo sapiens (human) ]

    Gene ID: 133491, updated on 27-Nov-2024

    Summary

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    Official Symbol
    C5orf47provided by HGNC
    Official Full Name
    chromosome 5 open reading frame 47provided by HGNC
    Primary source
    HGNC:HGNC:27026
    See related
    Ensembl:ENSG00000185056 MIM:620002; AllianceGenome:HGNC:27026
    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
    Expression
    Restricted expression toward testis (RPKM 11.9) See more
    Orthologs
    mouse all
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    Genomic context

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    See C5orf47 in Genome Data Viewer
    Location:
    5q35.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (173989170..174009548)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (174529506..174549885)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (173416173..173433143)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23665 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23666 Neighboring gene long intergenic non-protein coding RNA 1485 Neighboring gene Sharpr-MPRA regulatory region 2476 Neighboring gene CRISPRi-validated cis-regulatory element chr5.4552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23667 Neighboring gene Sharpr-MPRA regulatory region 12964 Neighboring gene CRISPRi-validated cis-regulatory element chr5.4558 Neighboring gene Sharpr-MPRA regulatory region 12084 Neighboring gene CRISPRi-validated cis-regulatory element chr5.4561 Neighboring gene CRISPRi-validated cis-regulatory element chr5.4562 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:173301919-173302077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23669 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:173317123-173317624 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:173317625-173318124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23670 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23671 Neighboring gene Sharpr-MPRA regulatory region 4386 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23672 Neighboring gene cytoplasmic polyadenylation element binding protein 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:173368663-173369301 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:173390440-173391639 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:173394847-173395510 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23673 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:173408357-173408858 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:173446513-173447102 Neighboring gene ribosomal protein L12 pseudogene 22 Neighboring gene neuronal vesicle trafficking associated 2 Neighboring gene uncharacterized LOC102724551

    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. Evolutionarily conserved and testis-specific gene, 4930524B15Rik, is not essential for mouse spermatogenesis and fertility. Khan R, et al. Mol Biol Rep, 2020 Jul. PMID 32592116
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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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    Homology

    General protein information

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    Preferred Names
    uncharacterized protein C5orf47

    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_001144954.2 → NP_001138426.1  uncharacterized protein C5orf47

      See identical proteins and their annotated locations for NP_001138426.1

      Status: VALIDATED

      Source sequence(s)
      BC066964, BC092489
      Consensus CDS
      CCDS47343.1
      UniProtKB/Swiss-Prot
      Q569G3, Q8IYU7
      Related
      ENSP00000340887.6, ENST00000340147.7
      Conserved Domains (1) summary
      pfam15730
      Location:28 → 176
      DUF4680; Domain of unknown function (DUF4680)

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      173989170..174009548
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009028.2 → XP_016864517.1  uncharacterized protein C5orf47 isoform X1

      UniProtKB/Swiss-Prot
      Q569G3, Q8IYU7
      Conserved Domains (1) summary
      pfam15730
      Location:28 → 176
      DUF4680; Domain of unknown function (DUF4680)

    2. XM_011534431.2 → XP_011532733.1  uncharacterized protein C5orf47 isoform X2

      Conserved Domains (1) summary
      pfam15730
      Location:28 → 132
      DUF4680; Domain of unknown function (DUF4680)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      174529506..174549885
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351583.1 → XP_054207558.1  uncharacterized protein C5orf47 isoform X1

      UniProtKB/Swiss-Prot
      Q569G3, Q8IYU7

    2. XM_054351584.1 → XP_054207559.1  uncharacterized protein C5orf47 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q569G3.2 GenPept UniProtKB/Swiss-Prot:Q569G3

    Gene LinkOut

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