| Variant ID | 957 |
|---|---|
| Entrez Gene ID | 10075 |
| Gene | HUWE1 (GeneCards) |
| Location | hg19 X:53620497-53620497
hg38 X:53593537-53593537 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000023.10:g.53620497 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1190 |
| Amino acid changes in protein | D > N |
| 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) | 3.314548 (Deleterious) |
| FATHMM raw prediction score | 0.98505 (Tolerated) |
| SIFT score | 0.231 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0 (Tolerated) |
| PROVEAN score | -1.68 (Tolerated) |
| MetaSVM score | -0.984 (Tolerated) |
| MetaLR score | 0.113 (Tolerated) |
| MCAP score | 0.016 (Tolerated) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.42 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.708 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.036 |
| Deleterious probability by iFish2 | 0.552 (Neutral) |
| Deleterious probability by DeFine | 0.9658 (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 | 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; |