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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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