| Variant ID | 11910 |
|---|---|
| Entrez Gene ID | 50807 |
| Gene | ASAP1 (GeneCards) |
| Location | hg19 8:131402154-131402154
hg38 8:130389908-130389908 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.131402154 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| 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 | -0.2224 |
| CADD Raw score (version 1.3) | 0.793063 (Deleterious) |
| FATHMM raw prediction score | 0.09487 (Tolerated) |
| Deleterious probability by DeFine | 0.389 (Neutral) |
| 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 | 29217584.08 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |