| Variant ID | 8594 |
|---|---|
| Entrez Gene ID | 64848 |
| Gene | YTHDC2 (GeneCards) |
| Location | hg19 5:113337874-113337874
hg38 5:114002177-114002177 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.113337874 G>A (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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0174 |
| CADD Raw score (version 1.3) | -0.076227 (Deleterious) |
| FATHMM raw prediction score | 0.09387 (Tolerated) |
| Deleterious probability by DeFine | 0.2975 (Neutral) |
| Entrez Gene ID | 64848 (NCBI Gene) |
|---|---|
| Official Gene Symbol | YTHDC2 (GeneCards) |
| Number of variants in YTHDC2 in this database | 11 (view all the variants) |
| Full name | YTH domain containing 2 |
| Band | 5q22.2 |
| Other IDs | Vega: OTTHUMG00000128837 OMIM: 616530 HGNC: HGNC:24721 Ensembl: ENSG00000047188 |
| Other names | CAHL, hYTHDC2 |
| Summary | This gene encodes a member of the DEAH (Asp-Glu-Ala-His) subfamily of proteins, part of the DEAD (Asp-Glu-Ala-Asp) box family of RNA helicases. The encoded protein binds to N6-methyladenosine, a common modified RNA nucleotide that is enriched in the stop codons and 3' UTRs of eukaryotic messenger RNAs. Binding of proteins to this modified nucleotide may regulate mRNA translation and stability. This gene may be associated with susceptibility to pancreatic cancer in human patients, and knockdown of this gene resulted in reduced proliferation in a human liver cancer cell line. [provided by RefSeq, Sep 2016] |
| Individual ID | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |