| Variant ID | 29313 |
|---|---|
| Entrez Gene ID | 11212 |
| Gene | PROSC (GeneCards) |
| Location | hg19 8:37632819-37632819
hg38 8:37775301-37775301 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000008.10:g.37632819 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | Intron |
|---|---|
| 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 | 0.0882 |
| CADD Raw score (version 1.3) | 0.132833 (Deleterious) |
| FATHMM raw prediction score | 0.1778 (Tolerated) |
| Deleterious probability by DeFine | 0.5357 (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 | 28503910.190 (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; |