| Variant ID | 10545 |
|---|---|
| Entrez Gene ID | 3092 |
| Gene | HIP1 (GeneCards) |
| Location | hg19 7:75354251-75354251
hg38 7:75724933-75724933 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.75354251 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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1099 |
| CADD Raw score (version 1.3) | 0.371112 (Deleterious) |
| FATHMM raw prediction score | 0.23465 (Tolerated) |
| Deleterious probability by DeFine | 0.4466 (Neutral) |
| Entrez Gene ID | 3092 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HIP1 (GeneCards) |
| Number of variants in HIP1 in this database | 4 (view all the variants) |
| Full name | huntingtin interacting protein 1 |
| Band | 7q11.23 |
| Other IDs | Vega: OTTHUMG00000156050 OMIM: 601767 HGNC: HGNC:4913 Ensembl: ENSG00000127946 |
| Other names | SHON, HIP-I, ILWEQ, SHONbeta, SHONgamma |
| Summary | The product of this gene is a membrane-associated protein that functions in clathrin-mediated endocytosis and protein trafficking within the cell. The encoded protein binds to the huntingtin protein in the brain; this interaction is lost in Huntington's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] |
| Individual ID | 29217584.06 (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; |