| Variant ID | 29439 |
|---|---|
| Entrez Gene ID | 221908 |
| Gene | PPP1R35 (GeneCards) |
| Location | hg19 7:100033271-100033271
hg38 7:100435648-100435648 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000007.13:g.100033271 G>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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 6496884 |
| Variant occurences in COSMIC | 1(breast)|1(oesophagus) |
| EIGEN score | 0.2897 |
| CADD Raw score (version 1.3) | 5.786203 (Deleterious) |
| FATHMM raw prediction score | 0.93628 (Tolerated) |
| SIFT score | 0.028 (Deleterious) |
| LRT score | 0.045 (Tolerated) |
| MutationTaster score | 0.812 (Tolerated) |
| MutatioinAssessor score | 1.04 (Tolerated) |
| PROVEAN score | -3.1 (Deleterious) |
| MetaSVM score | -0.892 (Tolerated) |
| MetaLR score | 0.162 (Tolerated) |
| MCAP score | 0.016 (Tolerated) |
| FitCons score | 0.543 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.63 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.398 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.965 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.759 |
| Deleterious probability by iFish2 | 0.1943 (Neutral) |
| Deleterious probability by DeFine | 0.9694 (Deleterious) |
| Entrez Gene ID | 221908 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PPP1R35 (GeneCards) |
| Number of variants in PPP1R35 in this database | 1 (view all the variants) |
| Full name | protein phosphatase 1 regulatory subunit 35 |
| Band | 7q22.1 |
| Other IDs | Vega: OTTHUMG00000159540 HGNC: HGNC:28320 Ensembl: ENSG00000160813 |
| Other names | C7orf47 |
| Summary | None |
| Individual ID | 28714951.115 (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; |