| Variant ID | 1385 |
|---|---|
| Entrez Gene ID | 10075 |
| Gene | HUWE1 (GeneCards) |
| Location | hg19 X:53563493-53563493
hg38 X:53536532-53536532 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000023.10:g.53563493_53563493 del (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_031407.6 |
| mRNA length | 14747 |
| Reference length | 155270560 |
| Deleterious probability by DeFine | 0.9456 (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 | 28867142.34 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |