| Variant ID | 29553 |
|---|---|
| Entrez Gene ID | 64135 |
| Gene | IFIH1 (GeneCards) |
| Location | hg19 2:163174408-163174408
hg38 2:162317898-162317898 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000002.11:g.163174408 T>G (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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.9676 |
| CADD Raw score (version 1.3) | 0.530009 (Deleterious) |
| FATHMM raw prediction score | 0.07042 (Tolerated) |
| SIFT score | 0.506 (Tolerated) |
| LRT score | 0.576 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.685 (Tolerated) |
| PROVEAN score | -0.21 (Tolerated) |
| MetaSVM score | -0.963 (Tolerated) |
| MetaLR score | 0.03 (Tolerated) |
| MCAP score | 0.006 (Tolerated) |
| FitCons score | 0.658 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -0.319 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.426 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 6.083 |
| Deleterious probability by iFish2 | 0.0074 (Neutral) |
| Deleterious probability by DeFine | 0.9178 (Deleterious) |
| Entrez Gene ID | 64135 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IFIH1 (GeneCards) |
| Number of variants in IFIH1 in this database | 1 (view all the variants) |
| Full name | interferon induced with helicase C domain 1 |
| Band | 2q24.2 |
| Other IDs | Vega: OTTHUMG00000132055 OMIM: 606951 HGNC: HGNC:18873 Ensembl: ENSG00000115267 |
| Other names | AGS7, Hlcd, MDA5, MDA-5, RLR-2, IDDM19, SGMRT1 |
| Summary | DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein that is upregulated in response to treatment with beta-interferon and a protein kinase C-activating compound, mezerein. Irreversible reprogramming of melanomas can be achieved by treatment with both these agents; treatment with either agent alone only achieves reversible differentiation. Genetic variation in this gene is associated with diabetes mellitus insulin-dependent type 19. [provided by RefSeq, Jul 2012] |
| Individual ID | 28714951.229 (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; |