| Variant ID | 920 |
|---|---|
| Entrez Gene ID | 9879 |
| Gene | DDX46 (GeneCards) |
| Location | hg19 5:134099733-134099733
hg38 5:134764043-134764043 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000005.9:g.134099733 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 53 |
| Amino acid changes in protein | R > C |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3991 |
| CADD Raw score (version 1.3) | 4.917354 (Deleterious) |
| FATHMM raw prediction score | 0.88891 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.365 (Deleterious) |
| PROVEAN score | -4.14 (Deleterious) |
| MetaSVM score | -0.763 (Tolerated) |
| MetaLR score | 0.124 (Tolerated) |
| MCAP score | 0.03 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.32 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.551 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.981 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.335 |
| Deleterious probability by iFish2 | 0.7945 (Deleterious) |
| Deleterious probability by DeFine | 0.9742 (Deleterious) |
| Entrez Gene ID | 9879 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DDX46 (GeneCards) |
| Number of variants in DDX46 in this database | 1 (view all the variants) |
| Full name | DEAD-box helicase 46 |
| Band | 5q31.1 |
| Other IDs | Vega: OTTHUMG00000163072 OMIM: 617848 HGNC: HGNC:18681 Ensembl: ENSG00000145833 |
| Other names | Prp5, PRPF5 |
| Summary | This gene encodes a member of the DEAD box protein family. 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. The protein encoded by this gene is a component of the 17S U2 snRNP complex; it plays an important role in pre-mRNA splicing. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2014] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |