| Variant ID | 32610 |
|---|---|
| Entrez Gene ID | 4855 |
| Gene | NOTCH4 (GeneCards) |
| Location | hg19 6:32163404-32163404
hg38 6:32195627-32195627 |
| Disease | Asymptomatic |
| Method | NGS gene panel |
| Mutation(HGVS format) | NC_000006.11:g.32163404 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1941 |
| Amino acid changes in protein | G > E |
| Position in cDNA | 5822 |
| Changes in cDNA | G > A |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.328 |
| CADD Raw score (version 1.3) | 5.016462 (Deleterious) |
| FATHMM raw prediction score | 0.01123 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0.028 (Tolerated) |
| MutationTaster score | 0.808 (Deleterious) |
| MutatioinAssessor score | 1.995 (Deleterious) |
| PROVEAN score | -0.8 (Tolerated) |
| MetaSVM score | -0.654 (Tolerated) |
| MetaLR score | 0.182 (Tolerated) |
| MCAP score | 0.147 (Deleterious) |
| FitCons score | 0.267 (Significant p < 0.05) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.86 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.552 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.003 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 10.954 |
| Deleterious probability by iFish2 | 0.1043 (Neutral) |
| Deleterious probability by DeFine | 0.9368 (Deleterious) |
| Entrez Gene ID | 4855 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NOTCH4 (GeneCards) |
| Number of variants in NOTCH4 in this database | 32 (view all the variants) |
| Full name | notch 4 |
| Band | 6p21.32 |
| Other IDs | Vega: OTTHUMG00000031044 OMIM: 164951 HGNC: HGNC:7884 Ensembl: ENSG00000204301 |
| Other names | INT3 |
| Summary | This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor may play a role in vascular, renal and hepatic development. Mutations in this gene may be associated with schizophrenia. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016] |
| Individual ID | 25999502.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 25999502 |
| Whose mosaic mutation | Normal |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 25999502 |
|---|---|
| Title | High burden and pervasive positive selection of somatic mutations in normal human skin |
| Journal | Science |
| Publication date | 2015.05 |
| Disease | Asymptomatic |
| Number of cases | Male cases: 1; Female cases: 3; |