| Variant ID | 10157 |
|---|---|
| Entrez Gene ID | 57531 |
| Gene | HACE1 (GeneCards) |
| Location | hg19 6:105201175-105201175
hg38 6:104753300-104753300 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.105201175 C>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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3054 |
| CADD Raw score (version 1.3) | -0.003503 (Deleterious) |
| FATHMM raw prediction score | 0.08462 (Tolerated) |
| Deleterious probability by DeFine | 0.0817 (Neutral) |
| Entrez Gene ID | 57531 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HACE1 (GeneCards) |
| Number of variants in HACE1 in this database | 2 (view all the variants) |
| Full name | HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 |
| Band | 6q16.3 |
| Other IDs | Vega: OTTHUMG00000015287 OMIM: 610876 HGNC: HGNC:21033 Ensembl: ENSG00000085382 |
| Other names | SPPRS |
| Summary | This gene encodes a HECT domain and ankyrin repeat-containing ubiquitin ligase. The encoded protein is involved in specific tagging of target proteins, leading to their subcellular localization or proteasomal degradation. The protein is a potential tumor suppressor and is involved in the pathophysiology of several tumors, including Wilm's tumor. [provided by RefSeq, Mar 2016] |
| Individual ID | 29217584.19 (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; |