| Variant ID | 1149 |
|---|---|
| Entrez Gene ID | 9459 |
| Gene | ARHGEF6 (GeneCards) |
| Location | hg19 X:135764068-135764068
hg38 X:136681909-136681909 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000023.10:g.135764068 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 513 |
| Amino acid changes in protein | D > D |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 0.11227 (Deleterious) |
| FATHMM raw prediction score | 0.71829 (Tolerated) |
| Deleterious probability by DeFine | 0.7245 (Deleterious) |
| Entrez Gene ID | 9459 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ARHGEF6 (GeneCards) |
| Number of variants in ARHGEF6 in this database | 2 (view all the variants) |
| Full name | Rac/Cdc42 guanine nucleotide exchange factor 6 |
| Band | Xq26.3 |
| Other IDs | Vega: OTTHUMG00000022518 OMIM: 300267 HGNC: HGNC:685 Ensembl: ENSG00000129675 |
| Other names | PIXA, COOL2, MRX46, Cool-2, alphaPIX, alpha-PIX |
| Summary | Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific cognitive disability. [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; |