| Variant ID | 1041 |
|---|---|
| Entrez Gene ID | 26256 |
| Gene | CABYR (GeneCards) |
| Location | hg19 18:21736102-21736102
hg38 18:24156138-24156138 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000018.9:g.21736102 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 213 |
| Amino acid changes in protein | E > K |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0843 |
| CADD Raw score (version 1.3) | 1.498879 (Deleterious) |
| FATHMM raw prediction score | 0.89298 (Tolerated) |
| SIFT score | 0.102 (Tolerated) |
| LRT score | 0.863 (Tolerated) |
| MutationTaster score | 0.582 (Deleterious) |
| MutatioinAssessor score | 1.445 (Tolerated) |
| PROVEAN score | -1.33 (Tolerated) |
| MetaSVM score | -1.016 (Tolerated) |
| MetaLR score | 0.072 (Tolerated) |
| MCAP score | 0.01 (Tolerated) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.2 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.99 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 10.13 |
| Deleterious probability by iFish2 | 0.1205 (Neutral) |
| Deleterious probability by DeFine | 0.9416 (Deleterious) |
| Entrez Gene ID | 26256 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CABYR (GeneCards) |
| Number of variants in CABYR in this database | 2 (view all the variants) |
| Full name | calcium binding tyrosine phosphorylation regulated |
| Band | 18q11.2 |
| Other IDs | Vega: OTTHUMG00000037365 OMIM: 612135 HGNC: HGNC:15569 Ensembl: ENSG00000154040 |
| Other names | CT88, FSP2, CBP86, FSP-2, CABYRa, CABYRc, CABYRe, CABYRc/d |
| Summary | To reach fertilization competence, spermatozoa undergo a series of morphological and molecular maturational processes, termed capacitation, involving protein tyrosine phosphorylation and increased intracellular calcium. The protein encoded by this gene localizes to the principal piece of the sperm flagellum in association with the fibrous sheath and exhibits calcium-binding when phosphorylated during capacitation. A pseudogene on chromosome 3 has been identified for this gene. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2013] |
| 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; |