| Variant ID | 29829 |
|---|---|
| Entrez Gene ID | 774 |
| Gene | CACNA1B (GeneCards) |
| Location | hg19 9:140777199-140777199
hg38 9:137882747-137882747 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000009.11:g.140777199 G>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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4604 |
| CADD Raw score (version 1.3) | 2.584266 (Deleterious) |
| FATHMM raw prediction score | 0.89419 (Tolerated) |
| SIFT score | 0.265 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.94 (Deleterious) |
| PROVEAN score | -6.11 (Deleterious) |
| MetaSVM score | 1.043 (Deleterious) |
| MetaLR score | 0.94 (Deleterious) |
| MCAP score | 0.179 (Deleterious) |
| FitCons score | 0.603 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.72 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.752 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.675 |
| Deleterious probability by iFish2 | 0.9905 (Deleterious) |
| Deleterious probability by DeFine | 0.9483 (Deleterious) |
| Entrez Gene ID | 774 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CACNA1B (GeneCards) |
| Number of variants in CACNA1B in this database | 2 (view all the variants) |
| Full name | calcium voltage-gated channel subunit alpha1 B |
| Band | 9q34.3 |
| Other IDs | Vega: OTTHUMG00000021002 OMIM: 601012 HGNC: HGNC:1389 Ensembl: ENSG00000148408 |
| Other names | BIII, CACNN, DYT23, Cav2.2, CACNL1A5 |
| Summary | The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] |
| Individual ID | 28867142.88 (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; |