| Variant ID | 826 |
|---|---|
| Entrez Gene ID | 50807 |
| Gene | ASAP1 (GeneCards) |
| Location | hg19 8:131193003-131193003
hg38 8:130180757-130180757 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000008.10:g.131193003 C>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 211 |
| Amino acid changes in protein | M > I |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5547 |
| CADD Raw score (version 1.3) | 4.707804 (Deleterious) |
| FATHMM raw prediction score | 0.94306 (Tolerated) |
| SIFT score | 0.002 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.88 (Deleterious) |
| PROVEAN score | -3.87 (Deleterious) |
| MetaSVM score | -0.182 (Tolerated) |
| MetaLR score | 0.431 (Tolerated) |
| MCAP score | 0.026 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.28 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.853 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.256 |
| Deleterious probability by iFish2 | 0.9617 (Deleterious) |
| Deleterious probability by DeFine | 0.9705 (Deleterious) |
| Entrez Gene ID | 50807 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ASAP1 (GeneCards) |
| Number of variants in ASAP1 in this database | 12 (view all the variants) |
| Full name | ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 |
| Band | 8q24.21-q24.22 |
| Other IDs | Vega: OTTHUMG00000164772 OMIM: 605953 HGNC: HGNC:2720 Ensembl: ENSG00000153317 |
| Other names | PAP, PAG2, AMAP1, DDEF1, ZG14P, CENTB4 |
| Summary | This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] |
| 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; |