| Variant ID | 828 |
|---|---|
| Entrez Gene ID | 85301 |
| Gene | COL27A1 (GeneCards) |
| Location | hg19 9:116982107-116982107
hg38 9:114219827-114219827 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000009.11:g.116982107 G>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 802 |
| Amino acid changes in protein | G > * |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.1233 |
| CADD Raw score (version 1.3) | 14.523078 (Deleterious) |
| FATHMM raw prediction score | 0.94704 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.8 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.034 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.563 |
| Deleterious probability by DeFine | 0.9569 (Deleterious) |
| Entrez Gene ID | 85301 (NCBI Gene) |
|---|---|
| Official Gene Symbol | COL27A1 (GeneCards) |
| Number of variants in COL27A1 in this database | 1 (view all the variants) |
| Full name | collagen type XXVII alpha 1 chain |
| Band | 9q32 |
| Other IDs | Vega: OTTHUMG00000020537 OMIM: 608461 HGNC: HGNC:22986 Ensembl: ENSG00000196739 |
| Other names | STLS |
| Summary | 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] |
| Individual ID | 27788131.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |