| Variant ID | 29567 |
|---|---|
| Entrez Gene ID | 9578 |
| Gene | CDC42BPB (GeneCards) |
| Location | hg19 14:103405969-103405969
hg38 14:102939632-102939632 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000014.8:g.103405969 T>C (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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5066 |
| CADD Raw score (version 1.3) | 4.336019 (Deleterious) |
| FATHMM raw prediction score | 0.99622 (Tolerated) |
| SIFT score | 0.004 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.565 (Deleterious) |
| PROVEAN score | -3.22 (Deleterious) |
| MetaSVM score | -0.231 (Tolerated) |
| MetaLR score | 0.332 (Tolerated) |
| MCAP score | 0.086 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.36 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.14 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 13.853 |
| Deleterious probability by iFish2 | 0.9787 (Deleterious) |
| Deleterious probability by DeFine | 0.9665 (Deleterious) |
| Entrez Gene ID | 9578 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CDC42BPB (GeneCards) |
| Number of variants in CDC42BPB in this database | 2 (view all the variants) |
| Full name | CDC42 binding protein kinase beta |
| Band | 14q32.32 |
| Other IDs | Vega: OTTHUMG00000171898 OMIM: 614062 HGNC: HGNC:1738 Ensembl: ENSG00000198752 |
| Other names | MRCKB |
| Summary | This gene encodes a member of the serine/threonine protein kinase family. The encoded protein contains a Cdc42/Rac-binding p21 binding domain resembling that of PAK kinase. The kinase domain of this protein is most closely related to that of myotonic dystrophy kinase-related ROK. Studies of the similar gene in rat suggested that this kinase may act as a downstream effector of Cdc42 in cytoskeletal reorganization. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.243 (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; |