| Variant ID | 29344 |
|---|---|
| Entrez Gene ID | 55561 |
| Gene | CDC42BPG (GeneCards) |
| Location | hg19 11:64601101-64601101
hg38 11:64833629-64833629 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000011.9:g.64601101 T>G (Genome Assembly: hg19) |
| 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -1.1183 |
| CADD Raw score (version 1.3) | -0.208978 (Deleterious) |
| FATHMM raw prediction score | 0.02786 (Tolerated) |
| SIFT score | 0.262 (Tolerated) |
| LRT score | 0.707 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.345 (Tolerated) |
| PROVEAN score | 0.68 (Tolerated) |
| MetaSVM score | -1.034 (Tolerated) |
| MetaLR score | 0.108 (Tolerated) |
| MCAP score | 0.024 (Tolerated) |
| FitCons score | 0.696 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -0.549 |
| PhyloP score based on multiple alignment of 100 vertebrates | -1.28 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 3.999 |
| Deleterious probability by iFish2 | 0.0973 (Neutral) |
| Deleterious probability by DeFine | 0.6493 (Deleterious) |
| Entrez Gene ID | 55561 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CDC42BPG (GeneCards) |
| Number of variants in CDC42BPG in this database | 2 (view all the variants) |
| Full name | CDC42 binding protein kinase gamma |
| Band | 11q13.1 |
| Other IDs | Vega: OTTHUMG00000045365 OMIM: 613991 HGNC: HGNC:29829 Ensembl: ENSG00000171219 |
| Other names | DMPK2, MRCKG, HSMDPKIN, KAPPA-200, MRCKgamma |
| Summary | None |
| Individual ID | 28714951.20 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |