| Variant ID | 29775 |
|---|---|
| Entrez Gene ID | 84249 |
| Gene | PSD2 (GeneCards) |
| Location | hg19 5:139219740-139219740
hg38 5:139840155-139840155 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000005.9:g.139219740 C>G (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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4484 |
| CADD Raw score (version 1.3) | 3.749198 (Deleterious) |
| FATHMM raw prediction score | 0.86612 (Tolerated) |
| SIFT score | 0.067 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.215 (Deleterious) |
| PROVEAN score | -3.87 (Deleterious) |
| MetaSVM score | -1.063 (Tolerated) |
| MetaLR score | 0.03 (Tolerated) |
| MCAP score | 0.015 (Tolerated) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -0.35 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.27 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 10.156 |
| Deleterious probability by iFish2 | 0.2056 (Neutral) |
| Deleterious probability by DeFine | 0.9366 (Deleterious) |
| Entrez Gene ID | 84249 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PSD2 (GeneCards) |
| Number of variants in PSD2 in this database | 2 (view all the variants) |
| Full name | pleckstrin and Sec7 domain containing 2 |
| Band | 5q31.2 |
| Other IDs | Vega: OTTHUMG00000129240 HGNC: HGNC:19092 Ensembl: ENSG00000146005 |
| Other names | EFA6C |
| Summary | None |
| Individual ID | 28867142.35 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male 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; |