| Variant ID | 29870 |
|---|---|
| Entrez Gene ID | 27253 |
| Gene | PCDH17 (GeneCards) |
| Location | hg19 13:58240856-58240856
hg38 13:57666722-57666722 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000013.10:g.58240856 G>A (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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8573 |
| CADD Raw score (version 1.3) | 6.351162 (Deleterious) |
| FATHMM raw prediction score | 0.98814 (Tolerated) |
| SIFT score | 0.008 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.25 (Deleterious) |
| PROVEAN score | -2.22 (Tolerated) |
| MetaSVM score | -0.544 (Tolerated) |
| MetaLR score | 0.338 (Tolerated) |
| MCAP score | 0.028 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.83 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.602 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.115 |
| Deleterious probability by iFish2 | 0.9463 (Deleterious) |
| Deleterious probability by DeFine | 0.9565 (Deleterious) |
| Entrez Gene ID | 27253 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PCDH17 (GeneCards) |
| Number of variants in PCDH17 in this database | 7 (view all the variants) |
| Full name | protocadherin 17 |
| Band | 13q21.1 |
| Other IDs | Vega: OTTHUMG00000016992 OMIM: 611760 HGNC: HGNC:14267 Ensembl: ENSG00000118946 |
| Other names | PCH68, PCDH68 |
| Summary | This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein may play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.16 (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; |