| Variant ID | 29815 |
|---|---|
| Entrez Gene ID | 11212 |
| Gene | PROSC (GeneCards) |
| Location | hg19 8:37623828-37623828
hg38 8:37766310-37766310 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000008.10:g.37623828 C>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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.9804 |
| CADD Raw score (version 1.3) | 6.684408 (Deleterious) |
| FATHMM raw prediction score | 0.99759 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 4.085 (Deleterious) |
| PROVEAN score | -6.92 (Deleterious) |
| MetaSVM score | 0.194 (Deleterious) |
| MetaLR score | 0.476 (Tolerated) |
| MCAP score | 0.081 (Deleterious) |
| FitCons score | 0.719 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.28 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.522 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.534 |
| Deleterious probability by iFish2 | 0.997 (Deleterious) |
| Deleterious probability by DeFine | 0.9664 (Deleterious) |
| Entrez Gene ID | 11212 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PROSC (GeneCards) |
| Number of variants in PLPBP in this database | 2 (view all the variants) |
| Full name | pyridoxal phosphate binding protein |
| Band | 8p11.23 |
| Other IDs | Vega: OTTHUMG00000164024 OMIM: 604436 HGNC: HGNC:9457 Ensembl: ENSG00000147471 |
| Other names | PROSC, EPVB6D |
| Summary | This gene encodes a pyridoxal 5'-phosphate binding protein involved in the homeostatic regulation of intracellular pyridoxal 5'-phosphate. This gene has a tumor suppressive effect on hepatocellular carcinoma and other solid tumors of epithelial origin. Naturally occurring mutations in this gene are associated with a pyridoxine-dependent epilepsy. [provided by RefSeq, Mar 2017] |
| Individual ID | 28867142.56 (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; |