| Variant ID | 29420 |
|---|---|
| Entrez Gene ID | 113510 |
| Gene | HELQ (GeneCards) |
| Location | hg19 4:84342874-84342874
hg38 4:83421721-83421721 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000004.11:g.84342874 C>T (Genome Assembly: hg19) |
| Exon or Intron | NA |
|---|---|
| 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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003229 |
|---|---|
| EIGEN score | -2.0472 |
| CADD Raw score (version 1.3) | -0.438169 (Deleterious) |
| FATHMM raw prediction score | 0.03699 (Tolerated) |
| SIFT score | 0.467 (Tolerated) |
| LRT score | 0.009 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.585 (Tolerated) |
| PROVEAN score | -0.4 (Tolerated) |
| MetaSVM score | -0.899 (Tolerated) |
| MetaLR score | 0.219 (Tolerated) |
| MCAP score | 0.058 (Deleterious) |
| FitCons score | 0.651 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -2.74 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.045 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.001 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.05 |
| Deleterious probability by iFish2 | 0.0035 (Neutral) |
| Deleterious probability by DeFine | 0.5158 (Deleterious) |
| Entrez Gene ID | 113510 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HELQ (GeneCards) |
| Number of variants in HELQ in this database | 2 (view all the variants) |
| Full name | helicase, POLQ like |
| Band | 4q21.23 |
| Other IDs | Vega: OTTHUMG00000130423 OMIM: 606769 HGNC: HGNC:18536 Ensembl: ENSG00000163312 |
| Other names | HEL308 |
| Summary | HEL308 is a single-stranded DNA-dependent ATPase and DNA helicase (Marini and Wood, 2002 [PubMed 11751861]).[supplied by OMIM, Mar 2008] |
| Individual ID | 28714951.96 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |