| Variant ID | 29147 |
|---|---|
| Entrez Gene ID | 5470 |
| Gene | PPEF2 (GeneCards) |
| Location | hg19 4:76812814-76812814
hg38 4:75891661-75891661 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000004.11:g.76812814 G>T (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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1883 |
| CADD Raw score (version 1.3) | 1.991575 (Deleterious) |
| FATHMM raw prediction score | 0.9328 (Tolerated) |
| SIFT score | 0.33 (Tolerated) |
| LRT score | 0.004 (Tolerated) |
| MutationTaster score | 0.992 (Deleterious) |
| MutatioinAssessor score | 2.075 (Deleterious) |
| PROVEAN score | -1.72 (Tolerated) |
| MetaSVM score | -0.834 (Tolerated) |
| MetaLR score | 0.201 (Tolerated) |
| MCAP score | 0.015 (Tolerated) |
| FitCons score | 0.497 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.26 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.923 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 10.472 |
| Deleterious probability by iFish2 | 0.3768 (Neutral) |
| Deleterious probability by DeFine | 0.9472 (Deleterious) |
| Entrez Gene ID | 5470 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PPEF2 (GeneCards) |
| Number of variants in PPEF2 in this database | 2 (view all the variants) |
| Full name | protein phosphatase with EF-hand domain 2 |
| Band | 4q21.1 |
| Other IDs | Vega: OTTHUMG00000160915 OMIM: 602256 HGNC: HGNC:9244 Ensembl: ENSG00000156194 |
| Other names | PPP7CB |
| Summary | This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein, which is expressed specifically in photoreceptors and the pineal, has been suggested to play a role in the visual system. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 28503910.24 (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; |