| Variant ID | 1110 |
|---|---|
| Entrez Gene ID | 768 |
| Gene | CA9 (GeneCards) |
| Location | hg19 9:35674326-35674326
hg38 9:35674329-35674329 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000009.11:g.35674326 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 124 |
| Amino acid changes in protein | E > K |
| 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 | -0.6365 |
| CADD Raw score (version 1.3) | 1.770321 (Deleterious) |
| FATHMM raw prediction score | 0.19044 (Tolerated) |
| SIFT score | 0.241 (Tolerated) |
| LRT score | 0.045 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.69 (Tolerated) |
| PROVEAN score | -0.51 (Tolerated) |
| MetaSVM score | -0.944 (Tolerated) |
| MetaLR score | 0.139 (Tolerated) |
| MCAP score | 0.023 (Tolerated) |
| FitCons score | 0.625 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.05 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.746 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.009 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 7.344 |
| Deleterious probability by iFish2 | 0.4875 (Neutral) |
| Deleterious probability by DeFine | 0.7659 (Deleterious) |
| Entrez Gene ID | 768 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CA9 (GeneCards) |
| Number of variants in CA9 in this database | 2 (view all the variants) |
| Full name | carbonic anhydrase 9 |
| Band | 9p13.3 |
| Other IDs | Vega: OTTHUMG00000021029 OMIM: 603179 HGNC: HGNC:1383 Ensembl: ENSG00000107159 |
| Other names | MN, CAIX |
| Summary | Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA IX is a transmembrane protein and is one of only two tumor-associated carbonic anhydrase isoenzymes known. It is expressed in all clear-cell renal cell carcinoma, but is not detected in normal kidney or most other normal tissues. It may be involved in cell proliferation and transformation. This gene was mapped to 17q21.2 by fluorescence in situ hybridization, however, radiation hybrid mapping localized it to 9p13-p12. [provided by RefSeq, Jun 2014] |
| Individual ID | 27788131.02 (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; |