| Variant ID | 22010 |
|---|---|
| Entrez Gene ID | 10075 |
| Gene | HUWE1 (GeneCards) |
| Location | hg19 X:53714232-53714232
hg38 X:53687287-53687287 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.53714232 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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -0.114995 (Deleterious) |
| FATHMM raw prediction score | 0.12146 (Tolerated) |
| Deleterious probability by DeFine | 0.5726 (Deleterious) |
| Entrez Gene ID | 10075 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HUWE1 (GeneCards) |
| Number of variants in HUWE1 in this database | 3 (view all the variants) |
| Full name | HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase |
| Band | Xp11.22 |
| Other IDs | Vega: OTTHUMG00000021617 OMIM: 300697 HGNC: HGNC:30892 Ensembl: ENSG00000086758 |
| Other names | MULE, Ib772, LASU1, UREB1, HECTH9, URE-B1, ARF-BP1, HSPC272 |
| Summary | This gene encodes a protein containing a C-terminal HECT (E6AP type E3 ubiquitin protein ligase) domain that functions as an E3 ubiquitin ligase. The encoded protein is required for the ubiquitination and subsequent degradation of the anti-apoptotic protein Mcl1 (myeloid cell leukemia sequence 1 (BCL2-related)). This protein also ubiquitinates the p53 tumor suppressor, core histones, and DNA polymerase beta. Mutations in this gene are associated with Turner type X-linked syndromic cognitive disability. [provided by RefSeq, Aug 2013] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |