| Variant ID | 21548 |
|---|---|
| Entrez Gene ID | 60625 |
| Gene | DHX35 (GeneCards) |
| Location | hg19 20:37803862-37803862
hg38 20:39175219-39175219 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.37803862 A>T (Genome Assembly: GRCh37) |
| 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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1847 |
| CADD Raw score (version 1.3) | -0.123262 (Deleterious) |
| FATHMM raw prediction score | 0.18643 (Tolerated) |
| Deleterious probability by DeFine | 0.4669 (Neutral) |
| Entrez Gene ID | 60625 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DHX35 (GeneCards) |
| Number of variants in DHX35 in this database | 2 (view all the variants) |
| Full name | DEAH-box helicase 35 |
| Band | 20q11.23-q12 |
| Other IDs | Vega: OTTHUMG00000032463 HGNC: HGNC:15861 Ensembl: ENSG00000101452 |
| Other names | DDX35, C20orf15, KAIA0875 |
| 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 the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The function of this gene product which is a member of this family, has not been determined. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2010] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |