| Variant ID | 29769 |
|---|---|
| Entrez Gene ID | 23037 |
| Gene | PDZD2 (GeneCards) |
| Location | hg19 5:32074487-32074487
hg38 5:32074381-32074381 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000005.9:g.32074487 G>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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 3615405 |
| Variant occurences in COSMIC | 1(skin)|1(large_intestine) |
| EIGEN score | -1.7835 |
| CADD Raw score (version 1.3) | 0.039348 (Deleterious) |
| FATHMM raw prediction score | 0.01667 (Tolerated) |
| SIFT score | 0.318 (Tolerated) |
| LRT score | 0.005 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | -1.59 (Tolerated) |
| PROVEAN score | 0.33 (Tolerated) |
| MetaSVM score | -0.94 (Tolerated) |
| MetaLR score | 0.005 (Tolerated) |
| MCAP score | 0.003 (Tolerated) |
| FitCons score | 0.534 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -8.89 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.055 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 1.402 |
| Deleterious probability by iFish2 | 0.0035 (Neutral) |
| Deleterious probability by DeFine | 0.8203 (Deleterious) |
| Entrez Gene ID | 23037 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PDZD2 (GeneCards) |
| Number of variants in PDZD2 in this database | 3 (view all the variants) |
| Full name | PDZ domain containing 2 |
| Band | 5p13.3 |
| Other IDs | Vega: OTTHUMG00000161981 OMIM: 610697 HGNC: HGNC:18486 Ensembl: ENSG00000133401 |
| Other names | AIPC, PIN1, PAPIN, PDZK3 |
| Summary | The protein encoded by this gene contains six PDZ domains and shares sequence similarity with pro-interleukin-16 (pro-IL-16). Like pro-IL-16, the encoded protein localizes to the endoplasmic reticulum and is thought to be cleaved by a caspase to produce a secreted peptide containing two PDZ domains. In addition, this gene is upregulated in primary prostate tumors and may be involved in the early stages of prostate tumorigenesis. [provided by RefSeq, Dec 2015] |
| Individual ID | 28867142.34 (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; |