C9ORF57 Gene

Name chromosome 9 open reading frame 57
Description Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n This study investigates the molecular basis of hereditary non‐syndromic hearing loss and focuses on identifying pathogenic mutations within the "}, {"type": "i", "children": [{"type": "t", "text": "TMC1"}]}, {"type": "t", "text": " gene, which is implicated in both autosomal dominant and recessive forms of the disorder (1). Mutation analysis in Turkish families revealed several known and novel "}, {"type": "i", "children": [{"type": "t", "text": "TMC1"}]}, {"type": "t", "text": " variants, confirming its critical role in auditory function. Importantly, however, the abstract does not provide any information regarding the function of "}, {"type": "i", "children": [{"type": "t", "text": "C9orf57"}]}, {"type": "t", "text": "; therefore, no conclusions about "}, {"type": "i", "children": [{"type": "t", "text": "C9orf57"}]}, {"type": "t", "text": " can be drawn from this study.\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n (1)."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "N Hilgert, F Alasti, N Dieltjens, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1399-0004.2008.01053.x"}], "href": "https://doi.org/10.1111/j.1399-0004.2008.01053.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18616530"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18616530"}]}]}]}
Synonyms C9orf57
Proteins CI057_HUMAN
NCBI Gene ID 138240
API
Download Associations
Predicted Functions View C9ORF57's ARCHS4 Predicted Functions.
Co-expressed Genes View C9ORF57's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View C9ORF57's ARCHS4 Predicted Functions.

Functional Associations

C9ORF57 has 1,168 functional associations with biological entities spanning 7 categories (molecular profile, organism, functional term, phrase or reference, disease, phenotype or trait, chemical, cell line, cell type or tissue, gene, protein or microRNA) extracted from 34 datasets.

Click the + buttons to view associations for C9ORF57 from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles tissue samples with high or low expression of C9ORF57 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles tissues with high or low expression of C9ORF57 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
BioGPS Human Cell Type and Tissue Gene Expression Profiles cell types and tissues with high or low expression of C9ORF57 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
CCLE Cell Line Gene CNV Profiles cell lines with high or low copy number of C9ORF57 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
CCLE Cell Line Gene Expression Profiles cell lines with high or low expression of C9ORF57 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
ChEA Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of C9ORF57 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
ChEA Transcription Factor Targets transcription factors binding the promoter of C9ORF57 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
CM4AI KOLF21J CRISPRi Gene Perturbation Atlas gene perturbations changing expression of C9ORF57 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores cellular components containing C9ORF57 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
COSMIC Cell Line Gene CNV Profiles cell lines with high or low copy number of C9ORF57 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
DISEASES Experimental Gene-Disease Association Evidence Scores 2025 diseases associated with C9ORF57 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 diseases co-occuring with C9ORF57 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
ENCODE Histone Modification Site Profiles histone modification site profiles with high histone modification abundance at C9ORF57 gene from the ENCODE Histone Modification Site Profiles dataset.
ENCODE Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of C9ORF57 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
ENCODE Transcription Factor Targets transcription factors binding the promoter of C9ORF57 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
GeneSigDB Published Gene Signatures PubMedIDs of publications reporting gene signatures containing C9ORF57 from the GeneSigDB Published Gene Signatures dataset.
GEO Signatures of Differentially Expressed Genes for Diseases disease perturbations changing expression of C9ORF57 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
GEO Signatures of Differentially Expressed Genes for Small Molecules small molecule perturbations changing expression of C9ORF57 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.
GEO Signatures of Differentially Expressed Genes for Viral Infections virus perturbations changing expression of C9ORF57 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.
GO Cellular Component Annotations 2015 cellular components containing C9ORF57 protein from the curated GO Cellular Component Annotations 2015 dataset.
GTEx Tissue Gene Expression Profiles tissues with high or low expression of C9ORF57 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset.
HPA Tissue Protein Expression Profiles tissues with high or low expression of C9ORF57 protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset.
JASPAR Predicted Transcription Factor Targets transcription factors regulating expression of C9ORF57 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset.
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles cell lines with high or low copy number of C9ORF57 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset.
KnockTF Gene Expression Profiles with Transcription Factor Perturbations transcription factor perturbations changing expression of C9ORF57 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset.
LOCATE Predicted Protein Localization Annotations cellular components predicted to contain C9ORF57 protein from the LOCATE Predicted Protein Localization Annotations dataset.
MotifMap Predicted Transcription Factor Targets transcription factors regulating expression of C9ORF57 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset.
Rummagene Transcription Factor Associations 2026 transcription factors regulating expression of C9ORF57 gene from the Rummagene Transcription Factor Associations 2026 dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of C9ORF57 gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of C9ORF57 gene from the RummaGEO Gene Perturbation Signatures dataset.
TargetScan Predicted Conserved microRNA Targets microRNAs regulating expression of C9ORF57 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset.
TargetScan Predicted Nonconserved microRNA Targets microRNAs regulating expression of C9ORF57 gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset.
TCGA Signatures of Differentially Expressed Genes for Tumors tissue samples with high or low expression of C9ORF57 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores tissues with high expression of C9ORF57 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.