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    C7orf57 chromosome 7 open reading frame 57 [ Homo sapiens (human) ]

    Gene ID: 136288, updated on 10-Oct-2024

    Summary

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    Official Symbol
    C7orf57provided by HGNC
    Official Full Name
    chromosome 7 open reading frame 57provided by HGNC
    Primary source
    HGNC:HGNC:22247
    See related
    Ensembl:ENSG00000164746 AllianceGenome:HGNC:22247
    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
    Biased expression in testis (RPKM 2.2), lung (RPKM 1.7) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C7orf57 in Genome Data Viewer
    Location:
    7p12.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (48035543..48061297)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (48197785..48223552)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (48075140..48100894)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5513 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18169 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25985 Neighboring gene HUS1 checkpoint clamp component Neighboring gene uncharacterized LOC105375270 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:48028674-48029515 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:48029516-48030356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25986 Neighboring gene Sad1 and UNC84 domain containing 3 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:48067895-48069094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18171 Neighboring gene OCT4 hESC enhancer GRCh37_chr7:48078286-48078787 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:48081079-48081256 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:48087955-48089154 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:48089290-48089790 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:48127865-48128394 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18172 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:48128927-48129456 Neighboring gene uridine phosphorylase 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:48145170-48145393 Neighboring gene uncharacterized LOC105375271

    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. A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Chiò A, et al. Hum Mol Genet, 2009 Apr 15. PMID 19193627, Free PMC Article
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, 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. 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

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.
    Submit: New GeneRIF Correction

    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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    Homology

    General protein information

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    Preferred Names
    uncharacterized protein C7orf57

    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_001100159.3 → NP_001093629.1  uncharacterized protein C7orf57 isoform 1

      See identical proteins and their annotated locations for NP_001093629.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC069279, BC031107, BC045737
      Consensus CDS
      CCDS47583.1
      UniProtKB/Swiss-Prot
      C9JBJ8, Q8NEG2
      UniProtKB/TrEMBL
      J3KQX6
      Related
      ENSP00000335500.3, ENST00000348904.4
      Conserved Domains (1) summary
      pfam14825
      Location:189 → 237
      DUF4483; Domain of unknown function (DUF4483)

    2. NM_001267865.2 → NP_001254794.1  uncharacterized protein C7orf57 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC069279, BC045737, BI560654
      Consensus CDS
      CCDS75594.1
      UniProtKB/TrEMBL
      F5H7J8
      Related
      ENSP00000442474.2, ENST00000539619.5

    3. NM_001267866.2 → NP_001254795.1  uncharacterized protein C7orf57 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream, in-frame start codon, and lacks an in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC069279, BC045737
      Consensus CDS
      CCDS59054.1
      UniProtKB/TrEMBL
      Q86XB5
      Related
      ENSP00000391652.1, ENST00000435376.5

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      48035543..48061297
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419885.1 → XP_047275841.1  uncharacterized protein C7orf57 isoform X2

    2. XM_047419886.1 → XP_047275842.1  uncharacterized protein C7orf57 isoform X4

    3. XM_011515121.3 → XP_011513423.1  uncharacterized protein C7orf57 isoform X1

      See identical proteins and their annotated locations for XP_011513423.1

      UniProtKB/Swiss-Prot
      C9JBJ8, Q8NEG2
      UniProtKB/TrEMBL
      J3KQX6
      Related
      ENSP00000410944.1, ENST00000430738.5
      Conserved Domains (1) summary
      pfam14825
      Location:189 → 237
      DUF4483; Domain of unknown function (DUF4483)

    4. XM_024446653.2 → XP_024302421.1  uncharacterized protein C7orf57 isoform X2

      UniProtKB/TrEMBL
      J3KQX6
      Conserved Domains (1) summary
      pfam14825
      Location:189 → 237
      DUF4483; Domain of unknown function (DUF4483)

    5. XM_006715650.4 → XP_006715713.1  uncharacterized protein C7orf57 isoform X5

      Conserved Domains (1) summary
      pfam14825
      Location:67 → 115
      DUF4483; Domain of unknown function (DUF4483)

    6. XM_011515122.4 → XP_011513424.1  uncharacterized protein C7orf57 isoform X3

      UniProtKB/TrEMBL
      C9JQZ6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      48197785..48223552
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357242.1 → XP_054213217.1  uncharacterized protein C7orf57 isoform X2

    2. XM_054357245.1 → XP_054213220.1  uncharacterized protein C7orf57 isoform X4

    3. XM_054357241.1 → XP_054213216.1  uncharacterized protein C7orf57 isoform X1

    4. XM_054357243.1 → XP_054213218.1  uncharacterized protein C7orf57 isoform X2

    5. XM_054357246.1 → XP_054213221.1  uncharacterized protein C7orf57 isoform X5

    6. XM_054357244.1 → XP_054213219.1  uncharacterized protein C7orf57 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NEG2.3 GenPept UniProtKB/Swiss-Prot:Q8NEG2

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