| Variant ID | 29781 |
|---|---|
| Entrez Gene ID | 56940 |
| Gene | DUSP22 (GeneCards) |
| Location | hg19 6:345911-345911
hg38 6:345911-345911 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000006.11:g.345911 G>C (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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0.00006453 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs3823302 |
| EIGEN score | 0.093 |
| CADD Raw score (version 1.3) | 1.807234 (Deleterious) |
| FATHMM raw prediction score | 0.93187 (Tolerated) |
| SIFT score | 0.032 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.365 (Tolerated) |
| PROVEAN score | -0.27 (Tolerated) |
| MetaSVM score | -0.803 (Tolerated) |
| MetaLR score | 0.174 (Tolerated) |
| MCAP score | 0.029 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.64 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.273 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.177 |
| Deleterious probability by iFish2 | 0.2232 (Neutral) |
| Deleterious probability by DeFine | 0.9228 (Deleterious) |
| Entrez Gene ID | 56940 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DUSP22 (GeneCards) |
| Number of variants in DUSP22 in this database | 1 (view all the variants) |
| Full name | dual specificity phosphatase 22 |
| Band | 6p25.3 |
| Other IDs | Vega: OTTHUMG00000014113 OMIM: 616778 HGNC: HGNC:16077 Ensembl: ENSG00000112679 |
| Other names | VHX, JKAP, JSP1, MKPX, JSP-1, MKP-x, LMWDSP2, LMW-DSP2 |
| Summary | None |
| Individual ID | 28867142.37 (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; |