Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 85301
MIM: 608461
HGNC: 22986
Ensembl: ENSG00000196739
Variants:
dbSNP: 85301
ClinVar: 85301
TCGA: ENSG00000196739
COSMIC: COL27A1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000196739 | ENST00000356083 | Q8IZC6 |
| ENSG00000196739 | ENST00000451716 | Q5T1U7 |
| ENSG00000196739 | ENST00000494090 | H0YD40 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33359165 | 2021 | Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalities. | 2 |
| 33359165 | 2021 | Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalities. | 2 |
| 31903681 | 2020 | Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation. | 3 |
| 32360765 | 2020 | First reported case of Steel syndrome in the European population: A novel homozygous mutation in COL27A1 and review of the literature. | 5 |
| 32376988 | 2020 | Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. | 15 |
| 31903681 | 2020 | Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation. | 3 |
| 32360765 | 2020 | First reported case of Steel syndrome in the European population: A novel homozygous mutation in COL27A1 and review of the literature. | 5 |
| 32376988 | 2020 | Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. | 15 |
| 31482140 | 2019 | Genome-wide association study of knee pain identifies associations with GDF5 and COL27A1 in UK Biobank. | 29 |
| 31482140 | 2019 | Genome-wide association study of knee pain identifies associations with GDF5 and COL27A1 in UK Biobank. | 29 |
| 30359423 | 2018 | Defining the molecular signatures of Achilles tendinopathy and anterior cruciate ligament ruptures: A whole-exome sequencing approach. | 6 |
| 30359423 | 2018 | Defining the molecular signatures of Achilles tendinopathy and anterior cruciate ligament ruptures: A whole-exome sequencing approach. | 6 |
| 28276056 | 2017 | Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1. | 9 |
| 28322503 | 2017 | A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss. | 10 |
| 28276056 | 2017 | Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1. | 9 |
Citation
Dessen P
COL27A1 (collagen type XXVII alpha 1 chain)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61990/gene-fusions/new-content/
