| Variant ID | 624 |
|---|---|
| Entrez Gene ID | 8554 |
| Gene | PIAS1 (GeneCards) |
| Location | hg19 15:68468014-68468014
hg38 15:68175676-68175676 |
| Disease | Intellectual Disability (view all the variants in this disease) |
| Method | CG |
| Mutation(HGVS format) | NC_000015.9:g.68468014 T>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Exon number | 10 |
| Position in protein | 403 |
| Amino acid changes in protein | D > E |
| Position in cDNA | 1209 |
| Changes in cDNA | T > A |
| mRNA accession | NM_016166.1 |
| mRNA length | 2309 |
| Reference length | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3832 |
| CADD Raw score (version 1.3) | 4.288361 (Deleterious) |
| FATHMM raw prediction score | 0.94422 (Tolerated) |
| SIFT score | 0.144 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.345 (Deleterious) |
| PROVEAN score | -2.17 (Tolerated) |
| MetaSVM score | -1.083 (Tolerated) |
| MetaLR score | 0.071 (Tolerated) |
| MCAP score | 0.025 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.89 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.453 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.759 |
| Deleterious probability by iFish2 | 0.1955 (Neutral) |
| Deleterious probability by DeFine | 0.8092 (Deleterious) |
| Entrez Gene ID | 8554 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PIAS1 (GeneCards) |
| Number of variants in PIAS1 in this database | 3 (view all the variants) |
| Full name | protein inhibitor of activated STAT 1 |
| Band | 15q23 |
| Other IDs | Vega: OTTHUMG00000172645 OMIM: 603566 HGNC: HGNC:2752 Ensembl: ENSG00000033800 |
| Other names | GBP, ZMIZ3, DDXBP1, GU/RH-II |
| Summary | This gene encodes a member of the protein inhibitor of activated STAT (PIAS) family. PIAS proteins function as SUMO E3 ligases and play important roles in many cellular processes by mediating the sumoylation of target proteins. This protein plays a central role as a transcriptional coregulator of numerous cellular pathways includign the STAT1 and nuclear factor kappaB pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] |
| Individual ID | 26054435.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 26054435 |
| Whose mosaic mutation | Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Intellectual Disability (view all the variants in this disease) |
| OMIM ID | 603566 |
| Pubmed ID | 26054435 |
|---|---|
| Title | Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation. |
| Journal | American Journal of Human Genetics |
| Publication date | 2015.07 |
| Disease | Intellectual Disability |