| Variant ID | 11586 |
|---|---|
| Entrez Gene ID | 3092 |
| Gene | HIP1 (GeneCards) |
| Location | hg19 7:75264616-75264616
hg38 7:75635298-75635298 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.75264616 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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0.0001 |
|---|---|
| EIGEN score | 0.4619 |
| CADD Raw score (version 1.3) | 0.542629 (Deleterious) |
| FATHMM raw prediction score | 0.37881 (Tolerated) |
| Deleterious probability by DeFine | 0.6264 (Deleterious) |
| 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 | 29217584.24 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |