| Entrez Gene ID | 50807 |
|---|---|
| Official Gene Symbol | ASAP1 (GeneCards) |
| Full name | ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 |
| Location | 8q24.21-q24.22 |
| Other ids | Vega : OTTHUMG00000164772 MIM : 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] |
Found 12 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 826 | 50807 | ASAP1 | 8 | 131193003 | 131193003 | Human Skin Fibroblasts | HiSeq 2500 |
| 11660 | 50807 | ASAP1 | 8 | 131449212 | 131449212 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 11688 | 50807 | ASAP1 | 8 | 131598588 | 131598588 | Asymptomatic | HiSeq 2500 HiSeq X Ten HiSeq 2000 |
| 11909 | 50807 | ASAP1 | 8 | 131345270 | 131345270 | Asymptomatic | HiSeq 2500 HiSeq X Ten HiSeq 2000 |
| 11910 | 50807 | ASAP1 | 8 | 131402154 | 131402154 | Asymptomatic | HiSeq 2500 HiSeq X Ten HiSeq 2000 |
| 12416 | 50807 | ASAP1 | 8 | 131506124 | 131506124 | Asymptomatic | HiSeq 2500 HiSeq X Ten HiSeq 2000 |
| 12438 | 50807 | ASAP1 | 8 | 131761859 | 131761859 | Asymptomatic | HiSeq 2500 HiSeq X Ten HiSeq 2000 |
| 12511 | 50807 | ASAP1 | 8 | 131740826 | 131740826 | Asymptomatic | HiSeq 2500 HiSeq X Ten HiSeq 2000 |
| 12756 | 50807 | ASAP1 | 8 | 131190532 | 131190532 | Cockayne syndrome | HiSeq 2500 HiSeq X Ten HiSeq 2000 |
| 12757 | 50807 | ASAP1 | 8 | 131599845 | 131599845 | Cockayne syndrome | HiSeq 2500 HiSeq X Ten HiSeq 2000 |
| 12826 | 50807 | ASAP1 | 8 | 131684720 | 131684720 | Xeroderma Pigmentosum | HiSeq 2500 HiSeq X Ten HiSeq 2000 |
| 23317 | 50807 | ASAP1 | 8 | 131358437 | 131358437 | Asymptomatic | HiSeq 2500 HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning |