| Variant ID | 29803 |
|---|---|
| Entrez Gene ID | 3092 |
| Gene | HIP1 (GeneCards) |
| Location | hg19 7:75177092-75177092
hg38 7:75547794-75547794 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000007.13:g.75177092 C>T (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 | NA |
| mRNA length | NA |
| Reference length | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs148673512 |
| EIGEN score | 0.6713 |
| CADD Raw score (version 1.3) | 8.131232 (Deleterious) |
| FATHMM raw prediction score | 0.94872 (Tolerated) |
| SIFT score | 0.008 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.29 (Deleterious) |
| PROVEAN score | -3.43 (Deleterious) |
| MetaSVM score | -0.735 (Tolerated) |
| MetaLR score | 0.193 (Tolerated) |
| MCAP score | 0.035 (Deleterious) |
| FitCons score | 0.719 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.83 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.73 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.455 |
| Deleterious probability by iFish2 | 0.6824 (Deleterious) |
| Deleterious probability by DeFine | 0.9606 (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 | 28867142.30 (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; |