| Variant ID | 29609 |
|---|---|
| Entrez Gene ID | 57664 |
| Gene | PLEKHA4 (GeneCards) |
| Location | hg19 19:49341342-49341342
hg38 19:48838085-48838085 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000019.9:g.49341342 C>T (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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0803 |
| CADD Raw score (version 1.3) | 4.441685 (Deleterious) |
| FATHMM raw prediction score | 0.90114 (Tolerated) |
| SIFT score | 0.005 (Deleterious) |
| LRT score | 0.062 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.5 (Tolerated) |
| PROVEAN score | 0.18 (Tolerated) |
| MetaSVM score | -1.097 (Tolerated) |
| MetaLR score | 0.048 (Tolerated) |
| MCAP score | 0.137 (Deleterious) |
| FitCons score | 0.767 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.86 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.379 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.597 |
| Deleterious probability by iFish2 | 0.1521 (Neutral) |
| Deleterious probability by DeFine | 0.9571 (Deleterious) |
| Entrez Gene ID | 57664 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PLEKHA4 (GeneCards) |
| Number of variants in PLEKHA4 in this database | 1 (view all the variants) |
| Full name | pleckstrin homology domain containing A4 |
| Band | 19q13.33 |
| Other IDs | Vega: OTTHUMG00000183329 OMIM: 607769 HGNC: HGNC:14339 Ensembl: ENSG00000105559 |
| Other names | PEPP1 |
| Summary | This gene encodes a pleckstrin homology (PH) domain-containing protein. The PH domain is found near the N-terminus and contains a putative phosphatidylinositol 3, 4, 5-triphosphate-binding motif (PPBM). Elevated expression of this gene has been observed in some melanomas. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017] |
| Individual ID | 28714951.285 (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; |