| Variant ID | 29934 |
|---|---|
| Entrez Gene ID | 65992 |
| Gene | DDRGK1 (GeneCards) |
| Location | hg19 20:3181055-3181055
hg38 20:3200409-3200409 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000020.10:g.3181055 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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2144 |
| CADD Raw score (version 1.3) | 3.116039 (Deleterious) |
| FATHMM raw prediction score | 0.91467 (Tolerated) |
| SIFT score | 0.037 (Deleterious) |
| LRT score | 0.04 (Tolerated) |
| MutationTaster score | 0.992 (Tolerated) |
| MutatioinAssessor score | 2.015 (Deleterious) |
| PROVEAN score | -2.06 (Tolerated) |
| MetaSVM score | -1.077 (Tolerated) |
| MetaLR score | 0.058 (Tolerated) |
| MCAP score | 0.012 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.27 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.153 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.831 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 10.036 |
| Deleterious probability by iFish2 | 0.4348 (Neutral) |
| Deleterious probability by DeFine | 0.9248 (Deleterious) |
| Entrez Gene ID | 65992 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DDRGK1 (GeneCards) |
| Number of variants in DDRGK1 in this database | 1 (view all the variants) |
| Full name | DDRGK domain containing 1 |
| Band | 20p13 |
| Other IDs | Vega: OTTHUMG00000031732 OMIM: 616177 HGNC: HGNC:16110 Ensembl: ENSG00000198171 |
| Other names | UFBP1, SEMDSH, C20orf116, dJ1187M17.3 |
| Summary | The protein encoded by this gene interacts with components of the ubiquitin fold modifier 1 conjugation pathway and helps prevent apoptosis in ER-stressed secretory tissues. In addition, the encoded protein regulates nuclear factor-κB activity. [provided by RefSeq, Dec 2015] |
| Individual ID | 28867142.24 (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; |