Overview

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)

Other information

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

Annotations and predictions

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-&#954;B activity. [provided by RefSeq, Dec 2015]

Individual #1

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

Publication #1: 28867142

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;