|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for NOTCH3 |
 Gene summary |
| Basic gene Info. | Gene symbol | NOTCH3 |
| Gene name | notch 3 | |
| Synonyms | CADASIL|CASIL|IMF2 | |
| Cytomap | UCSC genome browser: 19p13.2-p13.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000435.2, | |
| Description | Notch homolog 3neurogenic locus notch homolog protein 3 | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 600276 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000074181 | ||
| HPRD : 02607 | ||
| Vega : OTTHUMG00000183217 | ||
| Protein | UniProt: Q9UM47 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_NOTCH3 | |
| BioGPS: 4854 | ||
| Pathway | NCI Pathway Interaction Database: NOTCH3 | |
| KEGG: NOTCH3 | ||
| REACTOME: NOTCH3 | ||
| Pathway Commons: NOTCH3 | ||
| Context | iHOP: NOTCH3 | |
| ligand binding site mutation search in PubMed: NOTCH3 | ||
| UCL Cancer Institute: NOTCH3 | ||
| Assigned class in mutLBSgeneDB | A: This gene has a literature evidence and it belongs to targetable_mutLBSgenes. | |
| References showing study about ligand binding site mutation for NOTCH3. | 1. Lin, L., Mernaugh, R., Yi, F., Blum, D., Carbone, D. P., & Dang, T. P. (2010). Targeting specific regions of the Notch3 ligand-binding domain induces apoptosis and inhibits tumor growth in lung cancer. Cancer research, 70(2), 632-638. 20068176 | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
| Top |
| Ligand binding site mutations for NOTCH3 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | N1439 | N1439S | HNSC | 1 | H1478 | A1476T | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
| Top |
| Protein structure related information for NOTCH3 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
 |
| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | H1478 | A1476T | -0.82280224 | N1439 | N1439S | -0.51337243 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for NOTCH3 from PDB |
| Top |
| Differential gene expression and gene-gene network for NOTCH3 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
| Top |
| Top |
| Phenotype information for NOTCH3 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0751587 | CADASIL | 172 | Biomarker, GeneticVariation |
| umls:C1458155 | Breast Neoplasms | 5 | AlteredExpression, Biomarker |
| umls:C0007131 | Carcinoma, Non-Small-Cell Lung | 4 | Biomarker |
| umls:C0024121 | Lung Neoplasms | 2 | Biomarker |
| umls:C0887833 | Carcinoma, Pancreatic Ductal | 2 | Biomarker |
| umls:C0279626 | Esophageal Squamous Cell Carcinoma | 1 | Biomarker |
| umls:C0017636 | Glioblastoma | 1 | Biomarker |
| umls:C0432284 | Fibromatosis, Congenital Generalized | 1 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| Top |
| Pharmacological information for NOTCH3 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
 |
| Ligands binding to mutated ligand binding site of NOTCH3 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 4zlp | A | H1478 | CA | CALCIUM(2+) | 4zlp | B | H1478 | CA | CALCIUM(2+) | 4zlp | A | N1439 | CA | CALCIUM(2+) | 4zlp | B | N1439 |
| Top |
| Conservation information for LBS of NOTCH3 |
| Multiple alignments for Q9UM47 in multiple species |
| LBS | AA sequence | # species | Species | D1398 | QAKRGDQNCDR | 2 | Mus musculus, Rattus norvegicus | D1398 | QAKRGDQRCDR | 1 | Homo sapiens | D1402 | GDQRCDRECNS | 1 | Homo sapiens | D1402 | GDQNCDRECNT | 1 | Mus musculus | D1402 | GDQNCDRECNS | 1 | Rattus norvegicus | D1413 | PGCGWDGGDCS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D1416 | GWDGGDCSLNV | 2 | Mus musculus, Rattus norvegicus | D1416 | GWDGGDCSLSV | 1 | Homo sapiens | D1443 | NNSRCDPACSS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D1454 | PACLYDNFDCY | 2 | Mus musculus, Rattus norvegicus | D1454 | PACLYDNFDCH | 1 | Homo sapiens | D1457 | LYDNFDCYSGG | 2 | Mus musculus, Rattus norvegicus | D1457 | LYDNFDCHAGG | 1 | Homo sapiens | D1481 | ADHFADGRCDQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D1485 | ADGRCDQGCNT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D1496 | EECGWDGLDCA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D1499 | GWDGLDCASEV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H1478 | KYCADHFADGR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K1395 | AACQAKRGDQN | 2 | Mus musculus, Rattus norvegicus | K1395 | AACQAKRGDQR | 1 | Homo sapiens | L1436 | LQCWRLFNNSR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N1439 | WRLFNNSRCDP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R1400 | KRGDQNCDREC | 2 | Mus musculus, Rattus norvegicus | R1400 | KRGDQRCDREC | 1 | Homo sapiens | R1441 | LFNNSRCDPAC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R1483 | HFADGRCDQGC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |