| Variant ID | 14279 |
|---|---|
| Entrez Gene ID | 26091 |
| Gene | HERC4 (GeneCards) |
| Location | hg19 10:69789322-69789322
hg38 10:68029565-68029565 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.69789322 G>C (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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0416 |
| CADD Raw score (version 1.3) | -0.205275 (Deleterious) |
| FATHMM raw prediction score | 0.13392 (Tolerated) |
| Deleterious probability by DeFine | 0.2521 (Neutral) |
| Entrez Gene ID | 26091 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HERC4 (GeneCards) |
| Number of variants in HERC4 in this database | 3 (view all the variants) |
| Full name | HECT and RLD domain containing E3 ubiquitin protein ligase 4 |
| Band | 10q21.3 |
| Other IDs | Vega: OTTHUMG00000018343 OMIM: 609248 HGNC: HGNC:24521 Ensembl: ENSG00000148634 |
| Other names | None |
| Summary | HERC4 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008] |
| Individual ID | 29217584.10 (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; |