mutLBSgeneDB
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mutLBSgeneDB
mutated Ligand Binding Site gene DataBase
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 Gene summary |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
 : non-synonymous mutation on LBS, Circle size denotes number of samples. |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples |
D1399 | D1399N | HNSC | 3 | C1164 | C1164Y | HNSC | 2 | D1399 | D1399N | LUSC | 2 | W1466 | W1466L | STAD | 2 | C1164 | C1164Y | BLCA | 1 | I1739 | I1739M | BLCA | 1 | R1410,C1408 | L1409F | BLCA | 1 | C1272 | D1273N | BLCA | 1 | D1399 | D1399Y | BLCA | 1 | K1456 | Q1455R | BLCA | 1 | K1456 | Q1455H | BLCA | 1 | C1275 | K1277N | COAD | 1 | V1138 | Y1139C | COAD | 1 | Y1446 | Y1446C | HNSC | 1 | W1466 | W1466C | HNSC | 1 | P1458 | K1459M | KIRC | 1 | K1760 | K1760R | KIRC | 1 | I1086 | P1087H | LUSC | 1 | Y1414 | Y1414C | LUSC | 1 | L1398 | L1398P | LUSC | 1 | C414 | C414F | SKCM | 1 | C369 | R370H | STAD | 1 | L1463 | L1463R | STAD | 1 | I1739 | R1737C | STAD | 1 | F1075,Q1077 | R1076C | STAD | 1 | Y1397 | Y1397D | 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. |
| E1A binding protein p300 (EP300) is a gene that encodes a protein that functions in transcriptional regulation by histone acetylation. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift insertions and deletions, and in-frame insertions and deletions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer. Modified: July 1, 2015 |
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 |
W1466 | W1466C | -1.5792174 | L1398 | L1398P | -1.3641863 | K1456 | Q1455H | -1.2499248 | W1466 | W1466L | -1.2034239 | L1463 | L1463R | -1.166564 | Y1446 | Y1446C | -1.1618143 | R1410 | L1409F | -1.1423039 | C1408 | L1409F | -1.1423039 | Q1077 | R1076C | -1.036236 | F1075 | R1076C | -1.036236 | K1456 | Q1455R | -0.98770265 | Y1397 | Y1397D | -0.92774262 | C369 | R370H | -0.92500377 | I1086 | P1087H | -0.9233939 | I1739 | R1737C | -0.87027229 | K1760 | K1760R | -0.79167201 | P1458 | K1459M | -0.78474923 | I1739 | I1739M | -0.75532689 | V1138 | Y1139C | -0.75050213 | Y1414 | Y1414C | -0.71468759 | D1399 | D1399N | -0.69318353 | C414 | C414F | -0.63939658 | C1275 | K1277N | -0.61385568 | C1272 | D1273N | -0.43874586 | D1399 | D1399Y | -0.33853225 | C1164 | C1164Y | -0.16628387 |
| (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 EP300 from PDB |
| PDB ID | PDB title | PDB structure |
3BIY | Crystal structure of p300 histone acetyltransferase domain in complex with a bisubstrate inhibitor, Lys-CoA |  |
| 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) |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0035934 | Rubinstein-Taybi Syndrome | 10 | Biomarker, GeneticVariation |
| umls:C0699790 | Colon Carcinoma | 3 | Biomarker, GeneticVariation |
| umls:C0014170 | Endometrial Neoplasms | 2 | AlteredExpression, Biomarker |
| umls:C0007138 | Carcinoma, Transitional Cell | 2 | Biomarker |
| umls:C0279626 | Esophageal Squamous Cell Carcinoma | 2 | Biomarker |
| umls:C0010606 | Carcinoma, Adenoid Cystic | 1 | Biomarker |
| umls:C0149925 | Small Cell Lung Carcinoma | 1 | Biomarker |
| umls:C0005695 | Urinary Bladder Neoplasms | 1 | Biomarker |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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 EP300 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
ZN | | ZINC(2+) | 4bhw | A | C1164 | ZN | | ZINC(2+) | 4bhw | B | C1164 | ZN | | ZINC(2+) | 4bhw | A | C1272 C1275 | ZN | | ZINC(2+) | 4bhw | B | C1272 C1275 | ZN | | ZINC(2+) | 4bhw | A | C1408 | ZN | | ZINC(2+) | 4bhw | B | C1408 | 2LO | | 2-[2-(3-CHLORO-4-METHOXYPHENYL)ETHYL]-5-(3,5-DIMETHYL- 1,2-OXAZOL-4-YL)-1-[(2S)-2-(MORPHOLIN-4-YL)PROPYL]-1H- BENZIMIDAZOLE | 5bt3 | A | F1075 Q1077 I1086 V1138 | 01K | | LYSINE-COENZYME A DERIVATIVE | 3biy | A | Y1397 L1398 D1399 R1410 Y1414 Y1446 K1456 P1458 L1463 W1466 | 01K | | LYSINE-COENZYME A DERIVATIVE | 4bhw | A | Y1397 L1398 D1399 R1410 Y1414 Y1446 K1456 P1458 L1463 W1466 | 01K | | LYSINE-COENZYME A DERIVATIVE | 4bhw | B | Y1397 L1398 D1399 R1410 Y1414 Y1446 K1456 P1458 L1463 W1466 | COA | | COENZYME A | 4pzr | A | Y1397 L1398 D1399 R1410 Y1414 Y1446 K1456 P1458 L1463 W1466 | ACO | | ACETYL COENZYME *A | 4pzs | A | Y1397 L1398 D1399 R1410 Y1414 Y1446 K1456 P1458 L1463 W1466 | SOP | | S-(2-OXOPROPYL)-COENZYME A | 4pzt | A | Y1397 L1398 D1399 R1410 Y1414 Y1446 K1456 P1458 L1463 W1466 |
| Multiple alignments for Q09472 in multiple species |
| LBS | AA sequence | # species | Species |
