| Name | chromosome 17 open reading frame 78 |
| 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 Although none of the studies directly characterize C17orf78, analysis of multiple investigations focused on the 17q12 region provides clues regarding its potential biological relevance. In genome‐wide association studies of epithelial ovarian cancer, loci in the 17q12 region (including the serous subtype risk locus) have been identified, highlighting the complex regulatory environment of this chromosomal segment (a group of genes in which C17orf78 is positioned) that may influence tumor susceptibility (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In parallel, studies of 17q12 microdeletions have linked the locus to a diverse spectrum of developmental abnormalities, including Mayer–Rokitansky–Küster–Hauser syndrome, renal dysplasia, and neurodevelopmental deficits"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ";"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ";."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Furthermore, analyses of CNVs and other genetic variations in the region underscore its involvement in congenital malformations such as diaphragmatic hernia"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": ", whereas evolutionary genomic comparisons accentuate the selective pressures acting on functionally significant regions of the human genome"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": ", with additional insights provided by studies investigating breast cancer molecular signatures."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, while genes such as HNF1β, LHX1, and CHMP4C have been more directly implicated in the pathogenic processes associated with these conditions, the chromosomal context suggests that C17orf78, an open reading frame located in 17q12, may be part of the broader regulatory framework governing tissue development, organogenesis, and cancer susceptibility. Its precise function remains to be fully elucidated, but its consistent co-localization with several dosage‐sensitive and developmentally important genes makes it a compelling candidate for further functional studies to determine its contribution to the regulatory networks underlying both oncogenic processes and congenital malformations.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Paul D P Pharoah, Ya-Yu Tsai, Susan J Ramus, et al. "}, {"type": "b", "children": [{"type": "t", "text": "GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.2564"}], "href": "https://doi.org/10.1038/ng.2564"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23535730"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23535730"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Bernward Hinkes, Karl F Hilgers, Hanno J Bolz, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Nephrol (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1471-2369-13-27"}], "href": "https://doi.org/10.1186/1471-2369-13-27"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22583611"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22583611"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Jennifer L Roberts, Stephanie K Gandomi, Melissa Parra, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Clinical report of a 17q12 microdeletion with additionally unreported clinical features."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Case Rep Genet (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1155/2014/264947"}], "href": "https://doi.org/10.1155/2014/264947"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24991439"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24991439"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "C E Stiles, R Thuraisingham, D Bockenhauer, et al. "}, {"type": "b", "children": [{"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "De novo"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " HNF1 homeobox B mutation as a cause for chronic, treatment-resistant hypomagnesaemia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Endocrinol Diabetes Metab Case Rep (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1530/EDM-17-0120"}], "href": "https://doi.org/10.1530/EDM-17-0120"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29576871"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29576871"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Qihui Zhu, Frances A High, Chengsheng Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Systematic analysis of copy number variation associated with congenital diaphragmatic hernia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1714885115"}], "href": "https://doi.org/10.1073/pnas.1714885115"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29712845"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29712845"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Vanessa Rodrigues Paixão-Côrtes, Lucas Henrique Viscardi, Francisco Mauro Salzano, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Homo sapiens, Homo neanderthalensis and the Denisova specimen: New insights on their evolutionary histories using whole-genome comparisons."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genet Mol Biol (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1590/s1415-47572012000600003"}], "href": "https://doi.org/10.1590/s1415-47572012000600003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23413113"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23413113"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Antonella Iuliano, Annalisa Occhipinti, Claudia Angelini, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Combining Pathway Identification and Breast Cancer Survival Prediction via Screening-Network Methods."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Front Genet (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3389/fgene.2018.00206"}], "href": "https://doi.org/10.3389/fgene.2018.00206"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29963073"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29963073"}]}]}]}
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| Synonyms | C17orf78 |
| Proteins | CQ078_HUMAN |
| NCBI Gene ID | 284099 |
| API | |
| Download Associations | |
| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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C17ORF78 has 1,574 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 43 datasets.
Click the + buttons to view associations for C17ORF78 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 C17ORF78 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 Microarray | tissue samples with high or low expression of C17ORF78 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset. | |
| CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of C17ORF78 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 C17ORF78 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with C17ORF78 gene from the CellMarker Gene-Cell Type Associations dataset. | |
| ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of C17ORF78 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of C17ORF78 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 C17ORF78 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing C17ORF78 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 C17ORF78 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
| DepMap CRISPR Gene Dependency | cell lines with fitness changed by C17ORF78 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 C17ORF78 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 C17ORF78 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 C17ORF78 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 C17ORF78 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of C17ORF78 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of C17ORF78 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 C17ORF78 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
| GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations | transcription factor perturbations changing expression of C17ORF78 gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Viral Infections | virus perturbations changing expression of C17ORF78 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
| GO Cellular Component Annotations 2015 | cellular components containing C17ORF78 protein from the curated GO Cellular Component Annotations 2015 dataset. | |
| GTEx Tissue Gene Expression Profiles | tissues with high or low expression of C17ORF78 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
| GTEx Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of C17ORF78 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset. | |
| GWASdb SNP-Disease Associations | diseases associated with C17ORF78 gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. | |
| GWASdb SNP-Phenotype Associations | phenotypes associated with C17ORF78 gene in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. | |
| HPA Tissue Gene Expression Profiles | tissues with high or low expression of C17ORF78 gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset. | |
| HuGE Navigator Gene-Phenotype Associations | phenotypes associated with C17ORF78 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of C17ORF78 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 C17ORF78 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 C17ORF78 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
| LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain C17ORF78 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
| MiRTarBase microRNA Targets | microRNAs targeting C17ORF78 gene in low- or high-throughput microRNA targeting studies from the MiRTarBase microRNA Targets dataset. | |
| MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of C17ORF78 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 C17ORF78 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 C17ORF78 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of C17ORF78 gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of C17ORF78 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of C17ORF78 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| TargetScan Predicted Conserved microRNA Targets | microRNAs regulating expression of C17ORF78 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset. | |
| TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of C17ORF78 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 C17ORF78 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 C17ORF78 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
| WikiPathways Pathways 2024 | pathways involving C17ORF78 protein from the WikiPathways Pathways 2024 dataset. | |
