| Variant ID | 1482 |
|---|---|
| Entrez Gene ID | 4851 |
| Gene | NOTCH1 (GeneCards) |
| Location | hg19 9:139412684-139412684
hg38 9:136518232-136518232 |
| Disease | Aplastic Anaemia (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000009.11:g.139412684 C>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 387 |
| Amino acid changes in protein | C > F |
| Position in cDNA | 1160 |
| Changes in cDNA | G > T |
| mRNA accession | NM_017617.3 |
| mRNA length | 9568 |
| Reference length | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.0081 |
| CADD Raw score (version 1.3) | 6.804083 (Deleterious) |
| FATHMM raw prediction score | 0.99632 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 4.75 (Deleterious) |
| PROVEAN score | -9.34 (Deleterious) |
| MetaSVM score | 1.09 (Deleterious) |
| MetaLR score | 0.908 (Deleterious) |
| MCAP score | 0.793 (Deleterious) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.82 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.398 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.458 |
| Deleterious probability by iFish2 | 0.9619 (Deleterious) |
| Deleterious probability by DeFine | 0.9546 (Deleterious) |
| Entrez Gene ID | 4851 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NOTCH1 (GeneCards) |
| Number of variants in NOTCH1 in this database | 456 (view all the variants) |
| Full name | notch 1 |
| Band | 9q34.3 |
| Other IDs | Vega: OTTHUMG00000020935 OMIM: 190198 HGNC: HGNC:7881 Ensembl: ENSG00000148400 |
| Other names | hN1, AOS5, TAN1, AOVD1 |
| 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 plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016] |
| Individual ID | 28699658.11 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28699658 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Aplastic Anaemia (view all the variants in this disease) |
| OMIM ID | 609135 |
| Pubmed ID | 28699658 |
|---|---|
| Title | Telomere length and somatic mutations in correlation with response to immunosuppressive treatment in aplastic anaemia. |
| Journal | British Journal of Haematology |
| Publication date | 2017.08 |
| Disease | Aplastic Anaemia |
| Number of cases | Male cases: 22; Female cases: 1; cases of unknown sex: 4; |