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mutLBSgeneDB |
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| Gene summary for NOTCH1 |
 Gene summary |
| Basic gene Info. | Gene symbol | NOTCH1 |
| Gene name | notch 1 | |
| Synonyms | AOS5|AOVD1|TAN1|hN1 | |
| Cytomap | UCSC genome browser: 9q34.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_017617.3, | |
| Description | Notch homolog 1, translocation-associatedneurogenic locus notch homolog protein 1translocation-associated notch protein TAN-1 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 190198 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000148400 | ||
| HPRD : 01827 | ||
| Vega : OTTHUMG00000020935 | ||
| Protein | UniProt: P46531 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_NOTCH1 | |
| BioGPS: 4851 | ||
| Pathway | NCI Pathway Interaction Database: NOTCH1 | |
| KEGG: NOTCH1 | ||
| REACTOME: NOTCH1 | ||
| Pathway Commons: NOTCH1 | ||
| Context | iHOP: NOTCH1 | |
| ligand binding site mutation search in PubMed: NOTCH1 | ||
| UCL Cancer Institute: NOTCH1 | ||
| 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 NOTCH1. | 1. Aoyama, K. I., Ota, Y., Kajiwara, K., Hirayama, N., & Kimura, M. (2014). Frequent mutations in NOTCH1 ligand-binding regions in Japanese oral squamous cell carcinoma. Biochemical and biophysical research communications, 452(4), 980-985. 25234595 | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0008284 | positive regulation of cell proliferation | 17849174 | GO:0008285 | negative regulation of cell proliferation | 20616313 | GO:0010812 | negative regulation of cell-substrate adhesion | 16501043 | GO:0035924 | cellular response to vascular endothelial growth factor stimulus | 20616313 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 20616313 | GO:0071372 | cellular response to follicle-stimulating hormone stimulus | 20613903 | GO:0090051 | negative regulation of cell migration involved in sprouting angiogenesis | 20616313 | GO:2001027 | negative regulation of endothelial cell chemotaxis | 20616313 |
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| Ligand binding site mutations for NOTCH1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | H1539 | F1540L | COAD | 1 | M479 | G481C | HNSC | 1 | C478 | C478S | HNSC | 1 | C478 | C478Y | HNSC | 1 | D1520 | D1520H | HNSC | 1 | V453,E455 | N454T | HNSC | 1 | N431 | C429Y | HNSC | 1 | T466 | A465T | HNSC | 1 | E455 | E455K | HNSC | 1 | D295 | D297G | LUAD | 1 | N431 | C429S | LUSC | 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. |
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| Protein structure related information for NOTCH1 |
| 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 |
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| 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 | C478 | C478S | -1.3782017 | T466 | A465T | -1.2384143 | C478 | C478Y | -1.0919817 | E455 | E455K | -0.94939423 | M479 | G481C | -0.86575914 | D295 | D297G | -0.78071862 | N431 | C429S | -0.69785296 | E455 | N454T | -0.68675525 | V453 | N454T | -0.68675525 | H1539 | F1540L | -0.67705016 | D1520 | D1520H | -0.57016748 | N431 | C429Y | -0.42164691 |
| (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 NOTCH1 from PDB |
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| Differential gene expression and gene-gene network for NOTCH1 |
| 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) |
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| Phenotype information for NOTCH1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1961099 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 110 | Biomarker, GeneticVariation |
| umls:C0024299 | Lymphoma | 21 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C1458155 | Breast Neoplasms | 11 | AlteredExpression, Biomarker |
| umls:C0017636 | Glioblastoma | 10 | Biomarker |
| umls:C0000768 | Congenital Abnormalities | 6 | Biomarker, GeneticVariation |
| umls:C0279626 | Esophageal Squamous Cell Carcinoma | 4 | Biomarker |
| umls:C1260873 | Aortic Valve Disease | 3 | Biomarker, GeneticVariation |
| umls:C0004114 | Astrocytoma | 3 | Biomarker |
| umls:C0006663 | Calcinosis | 1 | Biomarker |
| umls:C0010606 | Carcinoma, Adenoid Cystic | 1 | Biomarker |
| umls:C0887833 | Carcinoma, Pancreatic Ductal | 1 | Biomarker |
| umls:C0007621 | Cell Transformation, Neoplastic | 1 | Biomarker |
| umls:C0009375 | Colonic Neoplasms | 1 | Biomarker |
| umls:C0376634 | Craniofacial Abnormalities | 1 | Biomarker |
| umls:C0018824 | Heart Valve Diseases | 1 | Biomarker |
| umls:C0027765 | Nervous System Diseases | 1 | Biomarker |
| umls:C0036439 | Scoliosis | 1 | Biomarker |
| umls:C0007873 | Uterine Cervical Neoplasms | 1 | Biomarker |
| umls:C0265268 | Adams Oliver syndrome | 1 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for NOTCH1 |
| 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of NOTCH1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 2vj3 | A | N431 | CA | CALCIUM(2+) | 4cuf | A | N431 | CA | CALCIUM(2+) | 4cud | A | N431 | CA | CALCIUM(2+) | 4cue | A | N431 | CA | CALCIUM(2+) | 4d0e | A | N431 | CA | CALCIUM(2+) | 4d0f | A | N431 | FUC | ALPHA-L-FUCOPYRANOSE | 4cud | A | T466 C478 M479 | FUC | ALPHA-L-FUCOPYRANOSE | 4d0e | A | T466 C478 M479 | CA | CALCIUM(2+) | 2vj3 | A | V453 E455 | CA | CALCIUM(2+) | 4cuf | A | V453 E455 | CA | CALCIUM(2+) | 4cud | A | V453 E455 | CA | CALCIUM(2+) | 4cue | A | V453 E455 | CA | CALCIUM(2+) | 4d0e | A | V453 E455 | CA | CALCIUM(2+) | 4d0f | A | V453 E455 |
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| Conservation information for LBS of NOTCH1 |
| Multiple alignments for P46531 in multiple species |
| LBS | AA sequence | # species | Species | C1463 | AGNKVCNLQCN | 2 | Mus musculus, Rattus norvegicus | C1463 | AGNKVCSLQCN | 1 | Homo sapiens | C1463 | QGNGICDSDCN | 1 | Drosophila melanogaster | C1463 | ADNKICNANCN | 1 | Xenopus tropicalis | C478 | EFQCICMPGYE | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | C478 | TFRCVCMPGFT | 1 | Drosophila melanogaster | D1457 | PECQEDAGNKV | 2 | Homo sapiens, Rattus norvegicus | D1457 | RGCTEKQGNGI | 1 | Drosophila melanogaster | D1457 | EQCAELADNKI | 1 | Xenopus tropicalis | D1457 | PECQVDAGNKV | 1 | Mus musculus | D1475 | HACGWDGGDCS | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | D1475 | YACNFDGNDCS | 1 | Drosophila melanogaster | D1478 | GWDGGDCSLNF | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | D1478 | NFDGNDCSLGI | 1 | Drosophila melanogaster | D1502 | WKYFSDGHCDS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D1502 | WNKFKNGKCNE | 1 | Drosophila melanogaster | D1502 | WKYFNDGKCDS | 1 | Xenopus tropicalis | D1506 | SDGHCDSQCNS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D1506 | KNGKCNEECNN | 1 | Drosophila melanogaster | D1506 | NDGKCDSQCNN | 1 | Xenopus tropicalis | D1517 | AGCLFDGFDCQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D1517 | AACHYDGHDCE | 1 | Drosophila melanogaster | D1517 | SGCLYDGFDCQ | 1 | Xenopus tropicalis | D1520 | LFDGFDCQLTE | 2 | Mus musculus, Rattus norvegicus | D1520 | LFDGFDCQRAE | 1 | Homo sapiens | D1520 | HYDGHDCERKL | 1 | Drosophila melanogaster | D1520 | LYDGFDCQKVE | 1 | Xenopus tropicalis | D1546 | SDGHCDQGCNS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D1546 | GDGFCDYGCNN | 1 | Drosophila melanogaster | D1546 | QDGHCDQGCNN | 1 | Xenopus tropicalis | D1557 | AECEWDGLDCA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D1557 | AECSWDGLDCE | 1 | Drosophila melanogaster | D1557 | AECEWDGLDCD | 1 | Xenopus tropicalis | D1560 | EWDGLDCAEHV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D1560 | SWDGLDCENKT | 1 | Drosophila melanogaster | D1560 | EWDGLDCDN-M | 1 | Xenopus tropicalis | D178 | PTCRQDVNECS | 2 | Mus musculus, Rattus norvegicus | D178 | PTCRQDVNECG | 1 | Homo sapiens | D178 | DTCSYDIEECQ | 1 | Drosophila melanogaster | D178 | ATCKQDINECS | 1 | Xenopus tropicalis | D295 | QYCTEDVDECQ | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | D295 | RFCQDDVDECA | 1 | Drosophila melanogaster | D331 | GWTGEDCSENI | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | D331 | GWAGLDCSNNT | 1 | Drosophila melanogaster | D469 | DATCLDQIGEF | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | D469 | EGSCLDDPGTF | 1 | Drosophila melanogaster | D492 | CEINTDECASS | 2 | Mus musculus, Rattus norvegicus | D492 | CEVNTDECASS | 1 | Homo sapiens | D492 | CEIDIDECQSN | 1 | Drosophila melanogaster | D492 | CETNIDECASN | 1 | Xenopus tropicalis | D507 | NGRCLDKINEF | 1 | Homo sapiens | D507 | DGTCHDKINGF | 1 | Drosophila melanogaster | D507 | NGKCVDKINEF | 1 | Xenopus tropicalis | D507 | NGHCMDKINEF | 1 | Mus musculus | D507 | NGRCVDKINEF | 1 | Rattus norvegicus | E415 | SQDVDECALGA | 2 | Mus musculus, Rattus norvegicus | E415 | SQDVDECSLGA | 1 | Homo sapiens | E415 | SEDIDECDQGS | 1 | Drosophila melanogaster | E415 | NNDVDECSLGA | 1 | Xenopus tropicalis | E455 | EIDVNECISNP | 2 | Mus musculus, Rattus norvegicus | E455 | EIDVNECVSNP | 1 | Homo sapiens | E455 | ETNINECESHP | 1 | Drosophila melanogaster | E455 | EIDVNECLSNP | 1 | Xenopus tropicalis | E493 | EINTDECASSP | 2 | Mus musculus, Rattus norvegicus | E493 | EVNTDECASSP | 1 | Homo sapiens | E493 | EIDIDECQSNP | 1 | Drosophila melanogaster | E493 | ETNIDECASNP | 1 | Xenopus tropicalis | E511 | LDKINEFQCEC | 1 | Homo sapiens | E511 | HDKINGFKCSC | 1 | Drosophila melanogaster | E511 | VDKINEFHCEC | 1 | Xenopus tropicalis | E511 | MDKINEFQCQC | 1 | Mus musculus | E511 | VDKINEFLCQC | 1 | Rattus norvegicus | F512 | DKINEFQCECP | 1 | Homo sapiens | F512 | DKINGFKCSCA | 1 | Drosophila melanogaster | F512 | DKINEFHCECP | 1 | Xenopus tropicalis | F512 | DKINEFQCQCP | 1 | Mus musculus | F512 | DKINEFLCQCP | 1 | Rattus norvegicus | G434 | CLNTLGSFECQ | 2 | Mus musculus, Rattus norvegicus | G434 | CINTLGSFECQ | 1 | Homo sapiens | G434 | CVNTPGSYRCN | 1 | Drosophila melanogaster | G434 | CTNTLGSFQCN | 1 | Xenopus tropicalis | H1504 | YFSDGHCDSQC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H1504 | KFKNGKCNEEC | 1 | Drosophila melanogaster | H1504 | YFNDGKCDSQC | 1 | Xenopus tropicalis | H1539 | QYCKDHFSDGH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H1539 | AYCQKHYGDGF | 1 | Drosophila melanogaster | H1539 | QYCRDHFQDGH | 1 | Xenopus tropicalis | H1544 | HFSDGHCDQGC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H1544 | HYGDGFCDYGC | 1 | Drosophila melanogaster | H1544 | HFQDGHCDQGC | 1 | Xenopus tropicalis | I477 | GEFQCICMPGY | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | I477 | GTFRCVCMPGF | 1 | Drosophila melanogaster | I509 | RCLDKINEFQC | 1 | Homo sapiens | I509 | TCHDKINGFKC | 1 | Drosophila melanogaster | I509 | KCVDKINEFHC | 1 | Xenopus tropicalis | I509 | HCMDKINEFQC | 1 | Mus musculus | I509 | RCVDKINEFLC | 1 | Rattus norvegicus | K508 | GRCLDKINEFQ | 1 | Homo sapiens | K508 | GTCHDKINGFK | 1 | Drosophila melanogaster | K508 | GKCVDKINEFH | 1 | Xenopus tropicalis | K508 | GHCMDKINEFQ | 1 | Mus musculus | K508 | GRCVDKINEFL | 1 | Rattus norvegicus | M479 | FQCICMPGYEG | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | M479 | FRCVCMPGFTG | 1 | Drosophila melanogaster | N1460 | QEDAGNKVCSL | 1 | Homo sapiens | N1460 | TEKQGNGICDS | 1 | Drosophila melanogaster | N1460 | AELADNKICNA | 1 | Xenopus tropicalis | N1460 | QVDAGNKVCNL | 1 | Mus musculus | N1460 | QEDAGNKVCNL | 1 | Rattus norvegicus | N431 | AGKCLNTLGSF | 2 | Mus musculus, Rattus norvegicus | N431 | AGKCINTLGSF | 1 | Homo sapiens | N431 | NGICVNTPGSY | 1 | Drosophila melanogaster | N431 | GGRCTNTLGSF | 1 | Xenopus tropicalis | N490 | VYCEINTDECA | 2 | Mus musculus, Rattus norvegicus | N490 | VHCEVNTDECA | 1 | Homo sapiens | N490 | TQCEIDIDECQ | 1 | Drosophila melanogaster | N490 | LYCETNIDECA | 1 | Xenopus tropicalis | Q470 | ATCLDQIGEFQ | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | Q470 | GSCLDDPGTFR | 1 | Drosophila melanogaster | S1464 | GNKVCNLQCNN | 2 | Mus musculus, Rattus norvegicus | S1464 | GNKVCSLQCNN | 1 | Homo sapiens | S1464 | GNGICDSDCNT | 1 | Drosophila melanogaster | S1464 | DNKICNANCNN | 1 | Xenopus tropicalis | S435 | LNTLGSFECQC | 2 | Mus musculus, Rattus norvegicus | S435 | INTLGSFECQC | 1 | Homo sapiens | S435 | VNTPGSYRCNC | 1 | Drosophila melanogaster | S435 | TNTLGSFQCNC | 1 | Xenopus tropicalis | T432 | GKCLNTLGSFE | 2 | Mus musculus, Rattus norvegicus | T432 | GKCINTLGSFE | 1 | Homo sapiens | T432 | GICVNTPGSYR | 1 | Drosophila melanogaster | T432 | GRCTNTLGSFQ | 1 | Xenopus tropicalis | T466 | CQNDATCLDQI | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus | T466 | CQNEGSCLDDP | 1 | Drosophila melanogaster | T491 | YCEINTDECAS | 2 | Mus musculus, Rattus norvegicus | T491 | HCEVNTDECAS | 1 | Homo sapiens | T491 | QCEIDIDECQS | 1 | Drosophila melanogaster | T491 | YCETNIDECAS | 1 | Xenopus tropicalis | V1462 | DAGNKVCNLQC | 2 | Mus musculus, Rattus norvegicus | V1462 | DAGNKVCSLQC | 1 | Homo sapiens | V1462 | KQGNGICDSDC | 1 | Drosophila melanogaster | V1462 | LADNKICNANC | 1 | Xenopus tropicalis | V413 | ACSQDVDECAL | 2 | Mus musculus, Rattus norvegicus | V413 | ACSQDVDECSL | 1 | Homo sapiens | V413 | DCSEDIDECDQ | 1 | Drosophila melanogaster | V413 | ACNNDVDECSL | 1 | Xenopus tropicalis | V453 | RCEIDVNECIS | 2 | Mus musculus, Rattus norvegicus | V453 | RCEIDVNECVS | 1 | Homo sapiens | V453 | RCETNINECES | 1 | Drosophila melanogaster | V453 | RCEIDVNECLS | 1 | Xenopus tropicalis | Y1499 | LQCWKYFSDGH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y1499 | -ECWNKFKNGK | 1 | Drosophila melanogaster | Y1499 | LQCWKYFNDGK | 1 | Xenopus tropicalis |
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