COL27A1 Gene

HGNC Family Collagens (COL)
Name collagen, type XXVII, alpha 1
Description This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n COL27A1 encodes the type XXVII collagen—a fibrillar collagen that is a critical structural component of the extracellular matrix in cartilage and several other tissues. Its primary function is to ensure proper chondrocyte organization and extracellular matrix assembly during chondrogenesis and endochondral ossification."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": " Transcription factors such as SOX9 and Lc‐Maf regulate its expression in chondrocytes, thereby ensuring proper growth plate architecture and the formation of a functional cartilage scaffold."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}, {"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Disruption of COL27A1 function—whether by mutations, deletions, or alternative splicing—compromises normal collagen deposition and leads to disorganization of the proliferative zone in the growth plate. Such alterations underlie skeletal dysplasias, most notably Steel syndrome, a disorder characterized by short stature, hip dysplasia, carpal coalitions, scoliosis, and other skeletal abnormalities."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "11"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition to its well‐established role in cartilage biology, COL27A1 has been implicated in other conditions. Genetic association studies have identified variants in this gene linked to neuropsychiatric disorders such as Tourette syndrome"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "12"}]}, {"type": "t", "text": "and musculoskeletal soft tissue injuries like Achilles tendinopathy."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "14"}]}, {"type": "t", "text": " Furthermore, the COL27A1 locus also harbors microRNAs – notably miR-455 – whose dysregulation has been associated with pathologies including Alzheimer’s disease"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "16"}]}, {"type": "t", "text": ", suggesting that this genomic region may exert multifunctional effects beyond skeletal development.\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Together, these findings underscore the pivotal role of COL27A1 in establishing and maintaining the extracellular matrix framework necessary for proper cartilage formation and skeletal development, while also hinting at its broader implications in other clinical conditions when its normal function is perturbed.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "James M Pace, Marcella Corrado, Caterina Missero, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Matrix Biol (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/s0945-053x(03)00007-6"}], "href": "https://doi.org/10.1016/s0945-053x(03"}, {"type": "t", "text": "00007-6) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12714037"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12714037"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Elizabeth Jenkins, Jennie B Moss, James M Pace, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The new collagen gene COL27A1 contains SOX9-responsive enhancer elements."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Matrix Biol (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.matbio.2005.02.004"}], "href": "https://doi.org/10.1016/j.matbio.2005.02.004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15922909"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15922909"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Darren A Plumb, Laila Ferrara, Tanja Torbica, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Collagen XXVII organises the pericellular matrix in the growth plate."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0029422"}], "href": "https://doi.org/10.1371/journal.pone.0029422"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22206015"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22206015"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Jaime L Mayo, Devin N Holden, Jeffery R Barrow, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The transcription factor Lc-Maf participates in Col27a1 regulation during chondrocyte maturation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Exp Cell Res (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.yexcr.2009.04.020"}], "href": "https://doi.org/10.1016/j.yexcr.2009.04.020"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19414009"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19414009"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Claudia Gonzaga-Jauregui, Candace N Gamble, Bo Yuan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Hum Genet (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ejhg.2014.107"}], "href": "https://doi.org/10.1038/ejhg.2014.107"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24986830"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24986830"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Claudia Gonzaga-Jauregui, Gozde Yesil, Harikiran Nistala, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Hum Genet (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41431-020-0632-x"}], "href": "https://doi.org/10.1038/s41431-020-0632-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32376988"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32376988"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Nesrin Gariballa, Afif Ben-Mahmoud, Makanko Komara, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.38153"}], "href": "https://doi.org/10.1002/ajmg.a.38153"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28322503"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28322503"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "S Kotabagi, H Shah, A Shukla, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Genet (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/cge.13006"}], "href": "https://doi.org/10.1111/cge.13006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28276056"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28276056"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": " Evie Kritioti, Athina Theodosiou, Nayia Nicolaou, et al. "}, {"type": "b", "children": [{"type": "t", "text": "First reported case of Steel syndrome in the European population: A novel homozygous mutation in COL27A1 and review of the literature."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Med Genet (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ejmg.2020.103939"}], "href": "https://doi.org/10.1016/j.ejmg.2020.103939"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32360765"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32360765"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Louise Amlie-Wolf, Sue Moyer-Harasink, Ann-Marie Carr, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.61465"}], "href": "https://doi.org/10.1002/ajmg.a.61465"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31903681"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31903681"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Chisei Satoh, Tatsuro Kondoh, Hitomi Shimizu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalities."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Med Genet (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ejmg.2020.104125"}], "href": "https://doi.org/10.1016/j.ejmg.2020.104125"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33359165"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33359165"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "J M Scharf, D Yu, C A Mathews, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide association study of Tourette's syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Psychiatry (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/mp.2012.69"}], "href": "https://doi.org/10.1038/mp.2012.69"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22889924"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22889924"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Shiguo Liu, Xiaoxia Yu, Quanchen Xu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Support of positive association in family-based genetic analysis between COL27A1 and Tourette syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/srep12687"}], "href": "https://doi.org/10.1038/srep12687"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26235311"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26235311"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Colleen J Saunders, Lize van der Merwe, Michael Posthumus, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Investigation of variants within the COL27A1 and TNC genes and Achilles tendinopathy in two populations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Orthop Res (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/jor.22278"}], "href": "https://doi.org/10.1002/jor.22278"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23192621"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23192621"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Andrea Gibbon, Colleen J Saunders, Malcolm Collins, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Defining the molecular signatures of Achilles tendinopathy and anterior cruciate ligament ruptures: A whole-exome sequencing approach."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0205860"}], "href": "https://doi.org/10.1371/journal.pone.0205860"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30359423"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30359423"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Subodh Kumar, P Hemachandra Reddy "}, {"type": "b", "children": [{"type": "t", "text": "A New Discovery of MicroRNA-455-3p in Alzheimer's Disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Alzheimers Dis (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3233/JAD-190583"}], "href": "https://doi.org/10.3233/JAD-190583"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31524168"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31524168"}]}]}]}
Synonyms STLS
Proteins CORA1_HUMAN
NCBI Gene ID 85301
API
Download Associations
Predicted Functions View COL27A1's ARCHS4 Predicted Functions.
Co-expressed Genes View COL27A1's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View COL27A1's ARCHS4 Predicted Functions.

Functional Associations

COL27A1 has 6,080 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 114 datasets.

Click the + buttons to view associations for COL27A1 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 COL27A1 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 COL27A1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse 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 COL27A1 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 COL27A1 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 COL27A1 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 COL27A1 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 COL27A1 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 COL27A1 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 COL27A1 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 COL27A1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
CellMarker Gene-Cell Type Associations cell types associated with COL27A1 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 COL27A1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
ChEA Transcription Factor Targets transcription factors binding the promoter of COL27A1 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 COL27A1 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 COL27A1 gene from the curated ClinVar Gene-Phenotype Associations dataset.
ClinVar Gene-Phenotype Associations 2025 phenotypes associated with COL27A1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
CM4AI KOLF21J CRISPRi Gene Perturbation Atlas gene perturbations changing expression of COL27A1 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores cellular components containing COL27A1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 cellular components containing COL27A1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores cellular components co-occuring with COL27A1 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 COL27A1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
COSMIC Cell Line Gene Mutation Profiles cell lines with COL27A1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
CTD Gene-Chemical Interactions chemicals interacting with COL27A1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
CTD Gene-Disease Associations diseases associated with COL27A1 gene/protein from the curated CTD Gene-Disease Associations dataset.
dbGAP Gene-Trait Associations traits associated with COL27A1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
DepMap CRISPR Gene Dependency cell lines with fitness changed by COL27A1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
DGIdb Drug Targets 2026 interacting drugs for COL27A1 protein from the DGIdb Drug Targets 2026 dataset.
DISEASES Experimental Gene-Disease Association Evidence Scores diseases associated with COL27A1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
DISEASES Experimental Gene-Disease Association Evidence Scores 2025 diseases associated with COL27A1 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 COL27A1 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 COL27A1 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 COL27A1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
DisGeNET Gene-Phenotype Associations phenotypes associated with COL27A1 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 COL27A1 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 COL27A1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
ENCODE Transcription Factor Targets transcription factors binding the promoter of COL27A1 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 COL27A1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
GAD Gene-Disease Associations diseases associated with COL27A1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
GAD High Level Gene-Disease Associations diseases associated with COL27A1 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
GeneRIF Biological Term Annotations biological terms co-occuring with COL27A1 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 COL27A1 from the GeneSigDB Published Gene Signatures dataset.
GEO Signatures of Differentially Expressed Genes for Diseases disease perturbations changing expression of COL27A1 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 COL27A1 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 COL27A1 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 COL27A1 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 COL27A1 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 COL27A1 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.
GlyGen Glycosylated Proteins ligands (chemical) binding COL27A1 protein from the GlyGen Glycosylated Proteins dataset.
GO Biological Process Annotations 2015 biological processes involving COL27A1 gene from the curated GO Biological Process Annotations 2015 dataset.
GO Biological Process Annotations 2023 biological processes involving COL27A1 gene from the curated GO Biological Process Annotations 2023 dataset.
GO Biological Process Annotations 2025 biological processes involving COL27A1 gene from the curated GO Biological Process Annotations2025 dataset.
GO Cellular Component Annotations 2015 cellular components containing COL27A1 protein from the curated GO Cellular Component Annotations 2015 dataset.
GO Cellular Component Annotations 2023 cellular components containing COL27A1 protein from the curated GO Cellular Component Annotations 2023 dataset.
GO Cellular Component Annotations 2025 cellular components containing COL27A1 protein from the curated GO Cellular Component Annotations 2025 dataset.
GO Molecular Function Annotations 2015 molecular functions performed by COL27A1 gene from the curated GO Molecular Function Annotations 2015 dataset.
GTEx eQTL 2025 SNPs regulating expression of COL27A1 gene from the GTEx eQTL 2025 dataset.
GTEx Tissue Gene Expression Profiles tissues with high or low expression of COL27A1 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 COL27A1 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 COL27A1 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset.
GTEx Tissue-Specific Aging Signatures tissue samples with high or low expression of COL27A1 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset.
GWAS Catalog SNP-Phenotype Associations phenotypes associated with COL27A1 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.
GWAS Catalog SNP-Phenotype Associations 2025 phenotypes associated with COL27A1 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
GWASdb SNP-Disease Associations diseases associated with COL27A1 gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.
GWASdb SNP-Phenotype Associations phenotypes associated with COL27A1 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 COL27A1 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 COL27A1 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 COL27A1 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 COL27A1 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 COL27A1 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset.
HPO Gene-Disease Associations phenotypes associated with COL27A1 gene by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
HuGE Navigator Gene-Phenotype Associations phenotypes associated with COL27A1 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
IMPC Knockout Mouse Phenotypes phenotypes of mice caused by COL27A1 gene knockout from the IMPC Knockout Mouse Phenotypes dataset.
InterPro Predicted Protein Domain Annotations protein domains predicted for COL27A1 protein from the InterPro Predicted Protein Domain Annotations dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of COL27A1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset.
JASPAR Predicted Mouse Transcription Factor Targets 2025 transcription factors regulating expression of COL27A1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset.
JASPAR Predicted Transcription Factor Targets transcription factors regulating expression of COL27A1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset.
KEGG Pathways 2026 pathways involving COL27A1 protein from the KEGG Pathways 2026 dataset.
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles cell lines with high or low copy number of COL27A1 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 COL27A1 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 COL27A1 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 COL27A1 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset.
LOCATE Curated Protein Localization Annotations cellular components containing COL27A1 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 COL27A1 protein from the LOCATE Predicted Protein Localization Annotations dataset.
MGI Mouse Phenotype Associations 2023 phenotypes of transgenic mice caused by COL27A1 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset.
MiRTarBase microRNA Targets microRNAs targeting COL27A1 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 COL27A1 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 COL27A1 gene relative to other tissue samples from the MoTrPAC Rat Endurance Exercise Training dataset.
MPO Gene-Phenotype Associations phenotypes of transgenic mice caused by COL27A1 gene mutations from the MPO Gene-Phenotype Associations dataset.
NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles drug perturbations changing expression of COL27A1 gene from the NIBR DRUG-seq U2OS MoA Box dataset.
OMIM Gene-Disease Associations phenotypes associated with COL27A1 gene from the curated OMIM Gene-Disease Associations dataset.
PANTHER Pathways pathways involving COL27A1 protein from the PANTHER Pathways dataset.
Pathway Commons Protein-Protein Interactions interacting proteins for COL27A1 from the Pathway Commons Protein-Protein Interactions dataset.
PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations gene perturbations changing expression of COL27A1 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 COL27A1 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
PFOCR Pathway Figure Associations 2023 pathways involving COL27A1 protein from the PFOCR Pathway Figure Associations 2023 dataset.
PFOCR Pathway Figure Associations 2024 pathways involving COL27A1 protein from the Wikipathways PFOCR 2024 dataset.
Reactome Pathways 2014 pathways involving COL27A1 protein from the Reactome Pathways dataset.
Reactome Pathways 2024 pathways involving COL27A1 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 COL27A1 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 COL27A1 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 COL27A1 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset.
Rummagene Transcription Factor Associations 2026 transcription factors regulating expression of COL27A1 gene from the Rummagene Transcription Factor Associations 2026 dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of COL27A1 gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of COL27A1 gene from the RummaGEO Gene Perturbation Signatures dataset.
Sci-Plex Drug Perturbation Signatures drug perturbations changing expression of COL27A1 gene from the Sci-Plex Drug Perturbation Signatures dataset.
Tabula Sapiens Gene-Cell Associations cell types with high or low expression of COL27A1 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 COL27A1 gene from the Tahoe Therapeutics Tahoe 100M Perturbation Atlas dataset.
TCGA Signatures of Differentially Expressed Genes for Tumors tissue samples with high or low expression of COL27A1 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 COL27A1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 tissues with high expression of COL27A1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Experimental Tissue Protein Expression Evidence Scores tissues with high expression of COL27A1 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 COL27A1 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 COL27A1 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 COL27A1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.