| Variant ID | 29816 |
|---|---|
| Entrez Gene ID | 80243 |
| Gene | PREX2 (GeneCards) |
| Location | hg19 8:69020350-69020350
hg38 8:68108115-68108115 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000008.10:g.69020350 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 |
|---|---|
| Variant IDs in COSMIC (version 89) | 3650497 |
| Variant occurences in COSMIC | 2(skin) |
| EIGEN score | 0.6607 |
| CADD Raw score (version 1.3) | 7.695911 (Deleterious) |
| FATHMM raw prediction score | 0.92816 (Tolerated) |
| SIFT score | 0.011 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.61 (Tolerated) |
| PROVEAN score | -1.84 (Tolerated) |
| MetaSVM score | -0.89 (Tolerated) |
| MetaLR score | 0.174 (Tolerated) |
| MCAP score | 0.053 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.85 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.777 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.045 |
| Deleterious probability by iFish2 | 0.7955 (Deleterious) |
| Deleterious probability by DeFine | 0.9388 (Deleterious) |
| Entrez Gene ID | 80243 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PREX2 (GeneCards) |
| Number of variants in PREX2 in this database | 98 (view all the variants) |
| Full name | phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 |
| Band | 8q13.2 |
| Other IDs | Vega: OTTHUMG00000164402 OMIM: 612139 HGNC: HGNC:22950 Ensembl: ENSG00000046889 |
| Other names | DEP.2, DEPDC2, P-REX2, PPP1R129 |
| Summary | The protein encoded by this gene belongs to the phosphatidylinositol 3,4,5-trisphosphate (PIP3)-dependent Rac exchanger (PREX) family, which are Dbl-type guanine-nucleotide exchange factors for Rac family small G proteins. Structural domains of this protein include the catalytic diffuse B-cell lymphoma homology and pleckstrin homology (DHPH) domain, two disheveled, EGL-10, and pleckstrin homology (DEP) domains, two PDZ domains, and a C-terminal inositol polyphosphate-4 phosphatase (IP4P) domain that is found in one of the isoforms. This protein facilitates the exchange of GDP for GTP on Rac1, allowing the GTP-bound Rac1 to activate downstream effectors. Studies also show that the pleckstrin homology domain of this protein interacts with the phosphatase and tensin homolog (PTEN) gene product to inhibit PTEN phosphatase activity, thus activating the phosphoinositide-3 kinase (PI3K) signaling pathway. Conversely, the PTEN gene product has also been shown to inhibit the GEF activity of this protein. This gene plays a role in insulin-signaling pathways, and either mutations or overexpression of this gene have been observed in some cancers. [provided by RefSeq, Apr 2016] |
| Individual ID | 28867142.58 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |