| Variant ID | 10123 |
|---|---|
| Entrez Gene ID | 4855 |
| Gene | NOTCH4 (GeneCards) |
| Location | hg19 6:32238279-32238279
hg38 6:32270502-32270502 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.32238279 C>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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2923 |
| CADD Raw score (version 1.3) | 0.401753 (Deleterious) |
| FATHMM raw prediction score | 0.11952 (Tolerated) |
| Deleterious probability by DeFine | 0.0949 (Neutral) |
| 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 | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |