| Variant ID | 29885 |
|---|---|
| Entrez Gene ID | 5330 |
| Gene | PLCB2 (GeneCards) |
| Location | hg19 15:40590077-40590077
hg38 15:40297876-40297876 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000015.9:g.40590077 C>T (Genome Assembly: hg19) |
| Exon or Intron | splicing |
|---|---|
| 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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.158 |
| CADD Raw score (version 1.3) | 6.047664 (Deleterious) |
| FATHMM raw prediction score | 0.99704 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.162 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.874 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.853 |
| Deleterious probability by DeFine | 0.9788 (Deleterious) |
| Entrez Gene ID | 5330 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PLCB2 (GeneCards) |
| Number of variants in PLCB2 in this database | 1 (view all the variants) |
| Full name | phospholipase C beta 2 |
| Band | 15q15.1 |
| Other IDs | Vega: OTTHUMG00000172412 OMIM: 604114 HGNC: HGNC:9055 Ensembl: ENSG00000137841 |
| Other names | PLC-beta-2 |
| Summary | The protein encoded by this gene is a phosphodiesterase that catalyzes the hydrolysis of phosphatidylinositol 4,5-bisphosphate to the second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol. The encoded protein is activated by G proteins and has been shown to be involved in the type 2 taste receptor signal transduction pathway. In addition, nuclear factor kappa B can regulate the transcription of this gene, whose protein product is also an important regulator of platelet responses. [provided by RefSeq, Jan 2017] |
| Individual ID | 28867142.18 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female 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; |