C17ORF107 Gene

Name chromosome 17 open reading frame 107
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Recent genetic studies have provided insights into candidate genes that may influence distinct clinical phenotypes, ranging from oxygen saturation during sleep to gastrointestinal motility. In a large genome‐wide association study of sleep disordered breathing, investigators identified several loci associated with nocturnal oxyhemoglobin saturation, implicating inflammatory signaling pathways; although C17orf107 was not a primary focus in these analyses, the study underscored the relevance of genes that modulate cellular responses in conditions of hypoxemia."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In a separate study investigating a multigenerational pedigree with familial chronic megacolon, a panel of candidate genes related to enteric nervous system structure and function was evaluated. Among these, C17orf107 – also referred to as CHRNE – was included because of its known role as part of the acetylcholine receptor complex, which is critical for proper neuromuscular signaling. Although pathogenic variants in SEMA3F emerged as the most compelling finding in this cohort, the inclusion of C17orf107 (CHRNE) highlights its potential contribution to enteric nerve function and, by extension, to the regulation of intestinal motility."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In summary, while C17orf107 is not directly implicated in the hypoxemia phenotype observed in sleep disordered breathing, its established role in neuromuscular signaling (as part of CHRNE) supports its candidacy as a gene that might influence enteric nervous system function and gastrointestinal motility in disorders such as chronic megacolon.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Brian E Cade, Han Chen, Adrienne M Stilp, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Associations of variants In the hexokinase 1 and interleukin 18 receptor regions with oxyhemoglobin saturation during sleep."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1007739"}], "href": "https://doi.org/10.1371/journal.pgen.1007739"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30990817"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30990817"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Michael Camilleri, Eric Wieben, Deborah Eckert, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Familial chronic megacolon presenting in childhood or adulthood: Seeking the presumed gene association."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurogastroenterol Motil (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/nmo.13550"}], "href": "https://doi.org/10.1111/nmo.13550"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30663199"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30663199"}]}]}]}
Synonyms C17orf107
Proteins CQ107_HUMAN
NCBI Gene ID 100130311
API
Download Associations
Predicted Functions View C17ORF107's ARCHS4 Predicted Functions.
Co-expressed Genes View C17ORF107's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View C17ORF107's ARCHS4 Predicted Functions.

Functional Associations

C17ORF107 has 2,320 functional associations with biological entities spanning 7 categories (molecular profile, disease, phenotype or trait, functional term, phrase or reference, chemical, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 40 datasets.

Click the + buttons to view associations for C17ORF107 from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles tissues with high or low expression of C17ORF107 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles tissue samples with high or low expression of C17ORF107 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 Developing Human Brain Tissue Gene Expression Profiles by RNA-seq tissue samples with high or low expression of C17ORF107 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles tissues with high or low expression of C17ORF107 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
BioGPS Mouse Cell Type and Tissue Gene Expression Profiles cell types and tissues with high or low expression of C17ORF107 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
CCLE Cell Line Gene CNV Profiles cell lines with high or low copy number of C17ORF107 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
ChEA Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of C17ORF107 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
ChEA Transcription Factor Targets transcription factors binding the promoter of C17ORF107 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 C17ORF107 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
DepMap CRISPR Gene Dependency cell lines with fitness changed by C17ORF107 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
DISEASES Experimental Gene-Disease Association Evidence Scores 2025 diseases associated with C17ORF107 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 C17ORF107 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
DisGeNET Gene-Disease Associations diseases associated with C17ORF107 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
ENCODE Histone Modification Site Profiles histone modification site profiles with high histone modification abundance at C17ORF107 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 C17ORF107 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
ENCODE Transcription Factor Targets transcription factors binding the promoter of C17ORF107 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
GeneSigDB Published Gene Signatures PubMedIDs of publications reporting gene signatures containing C17ORF107 from the GeneSigDB Published Gene Signatures dataset.
GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations transcription factor perturbations changing expression of C17ORF107 gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset.
GTEx eQTL 2025 SNPs regulating expression of C17ORF107 gene from the GTEx eQTL 2025 dataset.
GTEx Tissue-Specific Aging Signatures tissue samples with high or low expression of C17ORF107 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset.
HPA Cell Line Gene Expression Profiles cell lines with high or low expression of C17ORF107 gene relative to other cell lines from the HPA Cell Line Gene Expression Profiles dataset.
HPA Tissue Gene Expression Profiles tissues with high or low expression of C17ORF107 gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset.
HPA Tissue Sample Gene Expression Profiles tissue samples with high or low expression of C17ORF107 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset.
JASPAR Predicted Transcription Factor Targets transcription factors regulating expression of C17ORF107 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 C17ORF107 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset.
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles cell lines with high or low expression of C17ORF107 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles dataset.
KnockTF Gene Expression Profiles with Transcription Factor Perturbations transcription factor perturbations changing expression of C17ORF107 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset.
LOCATE Predicted Protein Localization Annotations cellular components predicted to contain C17ORF107 protein from the LOCATE Predicted Protein Localization Annotations dataset.
MotifMap Predicted Transcription Factor Targets transcription factors regulating expression of C17ORF107 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset.
PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations gene perturbations changing expression of C17ORF107 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations gene perturbations changing expression of C17ORF107 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles cell types and tissues with high or low DNA methylation of C17ORF107 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles dataset.
Roadmap Epigenomics Cell and Tissue Gene Expression Profiles cell types and tissues with high or low expression of C17ORF107 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue Gene Expression Profiles dataset.
Roadmap Epigenomics Histone Modification Site Profiles histone modification site profiles with high histone modification abundance at C17ORF107 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset.
Rummagene Transcription Factor Associations 2026 transcription factors regulating expression of C17ORF107 gene from the Rummagene Transcription Factor Associations 2026 dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of C17ORF107 gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of C17ORF107 gene from the RummaGEO Gene Perturbation Signatures dataset.
TargetScan Predicted Nonconserved microRNA Targets microRNAs regulating expression of C17ORF107 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 C17ORF107 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset.
TISSUES Experimental Tissue Protein Expression Evidence Scores tissues with high expression of C17ORF107 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset.