| Variant ID | 29296 |
|---|---|
| Entrez Gene ID | 56146 |
| Gene | PCDHA2 (GeneCards) |
| Location | hg19 5:140175208-140175208
hg38 5:140795623-140795623 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000005.9:g.140175208 C>A (Genome Assembly: GRCh37) |
| 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.9666 |
| CADD Raw score (version 1.3) | 6.205138 (Deleterious) |
| FATHMM raw prediction score | 0.98622 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0.001 |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 4.67 (Deleterious) |
| PROVEAN score | -8.48 (Deleterious) |
| MetaSVM score | 0.592 (Deleterious) |
| MetaLR score | 0.559 (Deleterious) |
| MCAP score | 0.18 (Deleterious) |
| FitCons score | 0.515 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.02 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.137 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.695 |
| Deleterious probability by iFish2 | 0.9993 (Deleterious) |
| Deleterious probability by DeFine | 0.9138 (Deleterious) |
| Entrez Gene ID | 56146 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PCDHA2 (GeneCards) |
| Number of variants in PCDHA2 in this database | 1 (view all the variants) |
| Full name | protocadherin alpha 2 |
| Band | 5q31.3 |
| Other IDs | Vega: OTTHUMG00000163363 OMIM: 606308 HGNC: HGNC:8668 Ensembl: ENSG00000204969 |
| Other names | PCDH-ALPHA2 |
| Summary | This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008] |
| Individual ID | 28503910.173 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |