Variant ID | 29934 |
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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 |
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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 |
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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) |
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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) |
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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 |
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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; |