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    C9orf57 chromosome 9 open reading frame 57 [ Homo sapiens (human) ]

    Gene ID: 138240, updated on 17-Jun-2024

    Summary

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    Official Symbol
    C9orf57provided by HGNC
    Official Full Name
    chromosome 9 open reading frame 57provided by HGNC
    Primary source
    HGNC:HGNC:27037
    See related
    Ensembl:ENSG00000204669 AllianceGenome:HGNC:27037
    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
    Summary
    Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward testis (RPKM 8.9) See more
    Orthologs
    mouse all
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    Genomic context

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    See C9orf57 in Genome Data Viewer
    Location:
    9q21.13
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (72051376..72060613, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (84202221..84211458, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (74666292..74675529, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28457 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28455 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:74534388-74534894 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:74535401-74535906 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:74535907-74536412 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:74536413-74536918 Neighboring gene chromosome 9 open reading frame 85 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:74568411-74569057 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:74578682-74579426 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:74579427-74580171 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:74604827-74606026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:74622307-74622838 Neighboring gene Sharpr-MPRA regulatory region 3495 Neighboring gene uncharacterized LOC101927108 Neighboring gene heat shock protein family B (small) member 1 pseudogene 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:74663139-74664338 Neighboring gene Sharpr-MPRA regulatory region 10456 Neighboring gene basic transcription factor 3 pseudogene 4 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:74761147-74762346 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:74764055-74764556 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:74764557-74765056 Neighboring gene guanine deaminase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19946

    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. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article
    2. A novel p53 regulator, C16ORF72/TAPR1, buffers against telomerase inhibition. Benslimane Y, et al. Aging Cell, 2021 Apr. PMID 33660365, Free PMC Article
    3. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article
    5. 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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    uncharacterized protein C9orf57

    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_001128618.2 → NP_001122090.2  uncharacterized protein C9orf57 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL138751
      Consensus CDS
      CCDS47980.2
      UniProtKB/Swiss-Prot
      A1L456, Q5W0N0
      UniProtKB/TrEMBL
      A0A494C0F4
      Related
      ENSP00000498279.1, ENST00000651200.2
      Conserved Domains (1) summary
      pfam15851
      Location:53 → 138
      DUF4723; Domain of unknown function (DUF4723)

    2. NM_001371610.1 → NP_001358539.1  uncharacterized protein C9orf57 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL138751
      Related
      ENST00000673779.1
      Conserved Domains (1) summary
      pfam15851
      Location:25 → 110
      DUF4723; Domain of unknown function (DUF4723)

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      72051376..72060613 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      84202221..84211458 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5W0N0.1 GenPept UniProtKB/Swiss-Prot:Q5W0N0

    Gene LinkOut

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

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