| Variant ID | 1101 |
|---|---|
| Entrez Gene ID | 8935 |
| Gene | SKAP2 (GeneCards) |
| Location | hg19 7:26766566-26766566
hg38 7:26726947-26726947 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000007.13:g.26766566 G>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 177 |
| Amino acid changes in protein | L > V |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7209 |
| CADD Raw score (version 1.3) | 4.574449 (Deleterious) |
| FATHMM raw prediction score | 0.98753 (Tolerated) |
| SIFT score | 0.018 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.47 (Tolerated) |
| PROVEAN score | -2.53 (Deleterious) |
| MetaSVM score | -0.006 (Tolerated) |
| MetaLR score | 0.546 (Deleterious) |
| MCAP score | 0.05 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.75 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.208 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.941 |
| Deleterious probability by iFish2 | 0.741 (Deleterious) |
| Deleterious probability by DeFine | 0.9181 (Deleterious) |
| Entrez Gene ID | 8935 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SKAP2 (GeneCards) |
| Number of variants in SKAP2 in this database | 6 (view all the variants) |
| Full name | src kinase associated phosphoprotein 2 |
| Band | 7p15.2 |
| Other IDs | Vega: OTTHUMG00000023495 OMIM: 605215 HGNC: HGNC:15687 Ensembl: ENSG00000005020 |
| Other names | PRAP, RA70, SAPS, SCAP2, SKAP55R, SKAP-HOM |
| Summary | The protein encoded by this gene shares homology with Src kinase-associated phosphoprotein 1, and is a substrate of Src family kinases. It is an adaptor protein that is thought to play an essential role in the Src signaling pathway, and in regulating proper activation of the immune system. This protein contains an amino terminal coiled-coil domain for self-dimerization, a plecskstrin homology (PH) domain required for interactions with lipids at the membrane, and a Src homology (SH3) domain at the carboxy terminus. Some reports indicate that this protein inhibits actin polymerization through interactions with actin assembly factors, and might negatively regulate the invasiveness of tumors by modulating actin assembly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015] |
| 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; |