| Variant ID | 1072 |
|---|---|
| Entrez Gene ID | 9462 |
| Gene | RASAL2 (GeneCards) |
| Location | hg19 1:178426980-178426980
hg38 1:178457845-178457845 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000001.10:g.178426980 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 851 |
| Amino acid changes in protein | M > I |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2572 |
| CADD Raw score (version 1.3) | 2.685756 (Deleterious) |
| FATHMM raw prediction score | 0.98828 (Tolerated) |
| SIFT score | 0.035 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.65 (Deleterious) |
| PROVEAN score | -0.43 (Tolerated) |
| MetaSVM score | -1.141 (Tolerated) |
| MetaLR score | 0.043 (Tolerated) |
| MCAP score | 0.013 (Tolerated) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.42 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.382 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.252 |
| Deleterious probability by iFish2 | 0.9179 (Deleterious) |
| Deleterious probability by DeFine | 0.9729 (Deleterious) |
| Entrez Gene ID | 9462 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RASAL2 (GeneCards) |
| Number of variants in RASAL2 in this database | 1 (view all the variants) |
| Full name | RAS protein activator like 2 |
| Band | 1q25.2 |
| Other IDs | Vega: OTTHUMG00000035022 OMIM: 606136 HGNC: HGNC:9874 Ensembl: ENSG00000075391 |
| Other names | NGAP |
| Summary | This gene encodes a protein that contains the GAP-related domain (GRD), a characteristic domain of GTPase-activating proteins (GAPs). GAPs function as activators of Ras superfamily of small GTPases. The protein encoded by this gene is able to complement the defective RasGAP function in a yeast system. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] |
| 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; |