HGNC Family | Collagens (COL) |
Name | collagen, type VI, alpha 1 |
Description | The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008] |
Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n COL6A1 encodes the major α1 chain of collagen VI, an essential extracellular matrix protein that assembles into a microfibrillar network to maintain tissue structural integrity and regulate cell–matrix interactions. In skeletal muscle, collagen VI is critical for proper myofiber function, as it contributes to the regulation of autophagy, mitochondrial homeostasis, and apoptosis; defects in COL6A1 in murine models result in impaired autophagic flux, mitochondrial dysfunction, and increased myofiber cell death, thereby promoting muscular dystrophy phenotypes (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Furthermore, collagen VI plays a pivotal role in sustaining the satellite cell niche, as its presence ensures proper biomechanical properties and supports satellite cell self‐renewal during muscle regeneration."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Mutations in COL6A1, acting via dominant-negative mechanisms or through disrupted protein assembly, cause a spectrum of collagen VI–related myopathies—including Bethlem myopathy and Ullrich congenital muscular dystrophy."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "6"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Beyond muscle, genetic studies have identified polymorphisms in COL6A1 that are strongly associated with ectopic ossification disorders such as ossification of the posterior longitudinal ligament and diffuse idiopathic skeletal hyperostosis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " In the nervous system, collagen VI exhibits neuroprotective properties by binding amyloid‐β oligomers, thereby reducing their toxic effects on neurons."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": " Moreover, regulation of COL6A1 expression has been observed in the context of tumor and stromal interactions, suggesting that its modulation may influence extracellular matrix remodeling in certain cancers."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these findings demonstrate that COL6A1 is multifunctional—playing a central role in extracellular matrix integrity, mechanotransduction, cell survival, and tissue repair, while its dysregulation contributes to a range of pathological conditions from muscular dystrophies to aberrant bone formation and neurodegenerative processes.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Paolo Grumati, Luisa Coletto, Patrizia Sabatelli, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Med (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nm.2247"}], "href": "https://doi.org/10.1038/nm.2247"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21037586"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21037586"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "William A Irwin, Natascha Bergamin, Patrizia Sabatelli, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng1270"}], "href": "https://doi.org/10.1038/ng1270"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14625552"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14625552"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Anna Urciuolo, Marco Quarta, Valeria Morbidoni, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Collagen VI regulates satellite cell self-renewal and muscle regeneration."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ncomms2964"}], "href": "https://doi.org/10.1038/ncomms2964"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23743995"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23743995"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Naomi L Baker, Matthias Mörgelin, Rachel Peat, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddi025"}], "href": "https://doi.org/10.1093/hmg/ddi025"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15563506"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15563506"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Te-Cheng Pan, Rui-Zhu Zhang, Dominick G Sudano, et al. "}, {"type": "b", "children": [{"type": "t", "text": "New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/377107"}], "href": "https://doi.org/10.1086/377107"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12840783"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12840783"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Kate M D Bushby, James Collins, Debbie Hicks "}, {"type": "b", "children": [{"type": "t", "text": "Collagen type VI myopathies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Adv Exp Med Biol (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/978-94-007-7893-1_12"}], "href": "https://doi.org/10.1007/978-94-007-7893-1_12"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24443028"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24443028"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Toshihiro Tanaka, Katsunori Ikari, Kozo Furushima, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spine."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/378593"}], "href": "https://doi.org/10.1086/378593"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12958705"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12958705"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "So Tsukahara, Nobuhiko Miyazawa, Hiroyuki Akagawa, et al. "}, {"type": "b", "children": [{"type": "t", "text": "COL6A1, the candidate gene for ossification of the posterior longitudinal ligament, is associated with diffuse idiopathic skeletal hyperostosis in Japanese."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Spine (Phila Pa 1976) (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/01.brs.0000182318.47343.6d"}], "href": "https://doi.org/10.1097/01.brs.0000182318.47343.6d"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16227896"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16227896"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Jason S Cheng, Dena B Dubal, Daniel H Kim, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Collagen VI protects neurons against Abeta toxicity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Neurosci (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nn.2240"}], "href": "https://doi.org/10.1038/nn.2240"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19122666"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19122666"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Hye-Sang Park, Sang-Seo Park, Chang-Ju Kim, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Exercise Alleviates Cognitive Functions by Enhancing Hippocampal Insulin Signaling and Neuroplasticity in High-Fat Diet-Induced Obesity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nutrients (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/nu11071603"}], "href": "https://doi.org/10.3390/nu11071603"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31311133"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31311133"}]}]}]}
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Synonyms | OPLL, UCHMD1 |
Proteins | CO6A1_HUMAN |
NCBI Gene ID | 1291 |
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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COL6A1 has 11,527 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 125 datasets.
Click the + buttons to view associations for COL6A1 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 COL6A1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. | |
Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles | tissues with high or low expression of COL6A1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. | |
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray | tissue samples with high or low expression of COL6A1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset. | |
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq | tissue samples with high or low expression of COL6A1 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 COL6A1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
BioGPS Cell Line Gene Expression Profiles | cell lines with high or low expression of COL6A1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset. | |
BioGPS Human Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of COL6A1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset. | |
BioGPS Mouse Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of COL6A1 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 COL6A1 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 COL6A1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
CCLE Cell Line Proteomics | Cell lines associated with COL6A1 protein from the CCLE Cell Line Proteomics dataset. | |
CellMarker Gene-Cell Type Associations | cell types associated with COL6A1 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 COL6A1 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
ChEA Transcription Factor Targets | transcription factors binding the promoter of COL6A1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of COL6A1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
ClinVar Gene-Phenotype Associations | phenotypes associated with COL6A1 gene from the curated ClinVar Gene-Phenotype Associations dataset. | |
CMAP Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of COL6A1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing COL6A1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing COL6A1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
COMPARTMENTS Experimental Protein Localization Evidence Scores | cellular components containing COL6A1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset. | |
COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 | cellular components containing COL6A1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset. | |
COMPARTMENTS Text-mining Protein Localization Evidence Scores | cellular components co-occuring with COL6A1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. | |
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with COL6A1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
COSMIC Cell Line Gene CNV Profiles | cell lines with high or low copy number of COL6A1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
COSMIC Cell Line Gene Mutation Profiles | cell lines with COL6A1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset. | |
CTD Gene-Chemical Interactions | chemicals interacting with COL6A1 gene/protein from the curated CTD Gene-Chemical Interactions dataset. | |
CTD Gene-Disease Associations | diseases associated with COL6A1 gene/protein from the curated CTD Gene-Disease Associations dataset. | |
DeepCoverMOA Drug Mechanisms of Action | small molecule perturbations with high or low expression of COL6A1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset. | |
DepMap CRISPR Gene Dependency | cell lines with fitness changed by COL6A1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
DISEASES Curated Gene-Disease Association Evidence Scores | diseases involving COL6A1 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. | |
DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving COL6A1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with COL6A1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. | |
DISEASES Text-mining Gene-Disease Association Evidence Scores | diseases co-occuring with COL6A1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. | |
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with COL6A1 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 COL6A1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
DisGeNET Gene-Phenotype Associations | phenotypes associated with COL6A1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at COL6A1 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 COL6A1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
ENCODE Transcription Factor Targets | transcription factors binding the promoter of COL6A1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
ESCAPE Omics Signatures of Genes and Proteins for Stem Cells | PubMedIDs of publications reporting gene signatures containing COL6A1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. | |
GAD Gene-Disease Associations | diseases associated with COL6A1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. | |
GAD High Level Gene-Disease Associations | diseases associated with COL6A1 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset. | |
GDSC Cell Line Gene Expression Profiles | cell lines with high or low expression of COL6A1 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset. | |
GeneRIF Biological Term Annotations | biological terms co-occuring with COL6A1 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. | |
GeneSigDB Published Gene Signatures | PubMedIDs of publications reporting gene signatures containing COL6A1 from the GeneSigDB Published Gene Signatures dataset. | |
GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of COL6A1 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. | |
GEO Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of COL6A1 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Kinase Perturbations | kinase perturbations changing expression of COL6A1 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of COL6A1 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 COL6A1 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 COL6A1 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
GlyGen Glycosylated Proteins | ligands (chemical) binding COL6A1 protein from the GlyGen Glycosylated Proteins dataset. | |
GO Biological Process Annotations 2015 | biological processes involving COL6A1 gene from the curated GO Biological Process Annotations 2015 dataset. | |
GO Biological Process Annotations 2023 | biological processes involving COL6A1 gene from the curated GO Biological Process Annotations 2023 dataset. | |
GO Biological Process Annotations 2025 | biological processes involving COL6A1 gene from the curated GO Biological Process Annotations2025 dataset. | |
GO Cellular Component Annotations 2015 | cellular components containing COL6A1 protein from the curated GO Cellular Component Annotations 2015 dataset. | |
GO Cellular Component Annotations 2023 | cellular components containing COL6A1 protein from the curated GO Cellular Component Annotations 2023 dataset. | |
GO Cellular Component Annotations 2025 | cellular components containing COL6A1 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
GO Molecular Function Annotations 2015 | molecular functions performed by COL6A1 gene from the curated GO Molecular Function Annotations 2015 dataset. | |
GO Molecular Function Annotations 2023 | molecular functions performed by COL6A1 gene from the curated GO Molecular Function Annotations 2023 dataset. | |
GO Molecular Function Annotations 2025 | molecular functions performed by COL6A1 gene from the curated GO Molecular Function Annotations 2025 dataset. | |
GTEx eQTL 2025 | SNPs regulating expression of COL6A1 gene from the GTEx eQTL 2025 dataset. | |
GTEx Tissue Gene Expression Profiles | tissues with high or low expression of COL6A1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of COL6A1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
GTEx Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of COL6A1 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset. | |
GWASdb SNP-Disease Associations | diseases associated with COL6A1 gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. | |
GWASdb SNP-Phenotype Associations | phenotypes associated with COL6A1 gene in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. | |
Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles | cell lines with high or low expression of COL6A1 gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset. | |
HPA Cell Line Gene Expression Profiles | cell lines with high or low expression of COL6A1 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 COL6A1 gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset. | |
HPA Tissue Protein Expression Profiles | tissues with high or low expression of COL6A1 protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset. | |
HPA Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of COL6A1 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
HPO Gene-Disease Associations | phenotypes associated with COL6A1 gene by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. | |
HuBMAP ASCT+B Annotations | cell types associated with COL6A1 gene from the HuBMAP ASCT+B dataset. | |
HuBMAP ASCT+B Augmented with RNA-seq Coexpression | cell types associated with COL6A1 gene from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset. | |
HuBMAP Azimuth Cell Type Annotations | cell types associated with COL6A1 gene from the HuBMAP Azimuth Cell Type Annotations dataset. | |
HuGE Navigator Gene-Phenotype Associations | phenotypes associated with COL6A1 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. | |
InterPro Predicted Protein Domain Annotations | protein domains predicted for COL6A1 protein from the InterPro Predicted Protein Domain Annotations dataset. | |
JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of COL6A1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
KEGG Pathways | pathways involving COL6A1 protein from the KEGG Pathways dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of COL6A1 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 COL6A1 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles | cell lines with COL6A1 gene mutations from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset. | |
KnockTF Gene Expression Profiles with Transcription Factor Perturbations | transcription factor perturbations changing expression of COL6A1 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
LINCS L1000 CMAP Chemical Perturbation Consensus Signatures | small molecule perturbations changing expression of COL6A1 gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
LINCS L1000 CMAP CRISPR Knockout Consensus Signatures | gene perturbations changing expression of COL6A1 gene from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset. | |
LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of COL6A1 gene from the LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
LOCATE Curated Protein Localization Annotations | cellular components containing COL6A1 protein in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset. | |
LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain COL6A1 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by COL6A1 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
MiRTarBase microRNA Targets | microRNAs targeting COL6A1 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 COL6A1 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
MoTrPAC Rat Endurance Exercise Training | tissue samples with high or low expression of COL6A1 gene relative to other tissue samples from the MoTrPAC Rat Endurance Exercise Training dataset. | |
MPO Gene-Phenotype Associations | phenotypes of transgenic mice caused by COL6A1 gene mutations from the MPO Gene-Phenotype Associations dataset. | |
MSigDB Cancer Gene Co-expression Modules | co-expressed genes for COL6A1 from the MSigDB Cancer Gene Co-expression Modules dataset. | |
MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations | gene perturbations changing expression of COL6A1 gene from the MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations dataset. | |
NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of COL6A1 gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
OMIM Gene-Disease Associations | phenotypes associated with COL6A1 gene from the curated OMIM Gene-Disease Associations dataset. | |
PANTHER Pathways | pathways involving COL6A1 protein from the PANTHER Pathways dataset. | |
Pathway Commons Protein-Protein Interactions | interacting proteins for COL6A1 from the Pathway Commons Protein-Protein Interactions dataset. | |
PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of COL6A1 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 COL6A1 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
PFOCR Pathway Figure Associations 2023 | pathways involving COL6A1 protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
PFOCR Pathway Figure Associations 2024 | pathways involving COL6A1 protein from the Wikipathways PFOCR 2024 dataset. | |
PID Pathways | pathways involving COL6A1 protein from the PID Pathways dataset. | |
Reactome Pathways 2014 | pathways involving COL6A1 protein from the Reactome Pathways dataset. | |
Reactome Pathways 2024 | pathways involving COL6A1 protein from the Reactome Pathways 2024 dataset. | |
Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles | cell types and tissues with high or low DNA methylation of COL6A1 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 COL6A1 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 COL6A1 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of COL6A1 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of COL6A1 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
Sanger Dependency Map Cancer Cell Line Proteomics | cell lines associated with COL6A1 protein from the Sanger Dependency Map Cancer Cell Line Proteomics dataset. | |
Tabula Sapiens Gene-Cell Associations | cell types with high or low expression of COL6A1 gene relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset. | |
Tahoe Therapeutics Tahoe 100M Perturbation Atlas | drug perturbations changing expression of COL6A1 gene from the Tahoe Therapeutics Tahoe 100M Perturbation Atlas dataset. | |
TargetScan Predicted Conserved microRNA Targets | microRNAs regulating expression of COL6A1 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset. | |
TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of COL6A1 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 COL6A1 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 COL6A1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of COL6A1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
TISSUES Experimental Tissue Protein Expression Evidence Scores | tissues with high expression of COL6A1 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of COL6A1 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with COL6A1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with COL6A1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
WikiPathways Pathways 2024 | pathways involving COL6A1 protein from the WikiPathways Pathways 2024 dataset. | |