| Variant ID | 29288 |
|---|---|
| Entrez Gene ID | 5092 |
| Gene | PCBD1 (GeneCards) |
| Location | hg19 10:72645520-72645520
hg38 10:70885763-70885763 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000010.10:g.72645520 G>A (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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0159 |
| CADD Raw score (version 1.3) | 0.113908 (Deleterious) |
| FATHMM raw prediction score | 0.23658 (Tolerated) |
| Deleterious probability by DeFine | 0.8138 (Deleterious) |
| Entrez Gene ID | 5092 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PCBD1 (GeneCards) |
| Number of variants in PCBD1 in this database | 3 (view all the variants) |
| Full name | pterin-4 alpha-carbinolamine dehydratase 1 |
| Band | 10q22.1 |
| Other IDs | Vega: OTTHUMG00000018417 OMIM: 126090 HGNC: HGNC:8646 Ensembl: ENSG00000166228 |
| Other names | PCD, PHS, DCOH, PCBD |
| Summary | This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] |
| Individual ID | 28503910.165 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| 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; |