| Variant ID | 29528 |
|---|---|
| Entrez Gene ID | 23042 |
| Gene | PDXDC1 (GeneCards) |
| Location | hg19 16:15100370-15100370
hg38 16:15006513-15006513 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000016.9:g.15100370 A>G (Genome Assembly: hg19) |
| Exon or Intron | NA |
|---|---|
| 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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2477 |
| CADD Raw score (version 1.3) | 1.877727 (Deleterious) |
| FATHMM raw prediction score | 0.71864 (Tolerated) |
| SIFT score | 0.174 (Tolerated) |
| LRT score | 0.005 (Tolerated) |
| MutationTaster score | 0.509 (Deleterious) |
| MutatioinAssessor score | 0.835 (Tolerated) |
| PROVEAN score | -2.49 (Tolerated) |
| MetaSVM score | -1.028 (Tolerated) |
| MetaLR score | 0.057 (Tolerated) |
| MCAP score | 0.012 (Tolerated) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.34 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.098 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 6.325 |
| Deleterious probability by iFish2 | 0.0868 (Neutral) |
| Deleterious probability by DeFine | 0.895 (Deleterious) |
| Entrez Gene ID | 23042 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PDXDC1 (GeneCards) |
| Number of variants in PDXDC1 in this database | 1 (view all the variants) |
| Full name | pyridoxal dependent decarboxylase domain containing 1 |
| Band | 16p13.11 |
| Other IDs | Vega: OTTHUMG00000166304 OMIM: 614244 HGNC: HGNC:28995 Ensembl: ENSG00000179889 |
| Other names | LP8165 |
| Summary | None |
| Individual ID | 28714951.204 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |