mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for TP63
Gene summary
Basic gene Info.Gene symbolTP63
Gene nametumor protein p63
SynonymsAIS|B(p51A)|B(p51B)|EEC3|KET|LMS|NBP|OFC8|RHS|SHFM4|TP53CP|TP53L|TP73L|p40|p51|p53CP|p63|p73H|p73L
CytomapUCSC genome browser: 3q28
Type of geneprotein-coding
RefGenesNM_001114978.1,
NM_001114979.1,NM_001114980.1,NM_001114981.1,NM_001114982.1,
NM_003722.4,
DescriptionCUSPamplified in squamous cell carcinomachronic ulcerative stomatitis proteinkeratinocyte transcription factor KETtransformation-related protein 63tumor protein 63tumor protein p53-competing proteintumor protein p63 deltaN isoform delta
Modification date20141222
dbXrefs MIM : 603273
HGNC : HGNC
Ensembl : ENSG00000073282
HPRD : 04469
Vega : OTTHUMG00000156313
ProteinUniProt: Q9H3D4
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_TP63
BioGPS: 8626
PathwayNCI Pathway Interaction Database: TP63
KEGG: TP63
REACTOME: TP63
Pathway Commons: TP63
ContextiHOP: TP63
ligand binding site mutation search in PubMed: TP63
UCL Cancer Institute: TP63
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006974cellular response to DNA damage stimulus19451233
GO:0045747positive regulation of Notch signaling pathway11641404
GO:0045892negative regulation of transcription, DNA-templated12446784
GO:0045893positive regulation of transcription, DNA-templated12446784
GO:0045944positive regulation of transcription from RNA polymerase II promoter20123734
GO:2000271positive regulation of fibroblast apoptotic process9774969


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Ligand binding site mutations for TP63

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
R343R343QCOAD1
S189A190VCOAD1
C244C244YCOAD1
H247E248KHNSC1
R318R319LLUAD1
R318M316ISKCM1
R350G349ESKCM1
S189S189LSTAD1
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 TP63
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.
LBSAAchange of nsSNVRelative stability change
R350G349E0.02424754
R343R343Q-1.2160085
C244C244Y-1.0904331
H247E248K-0.88865386
R318M316I-0.46249142
R318R319L-0.37905282
S189A190V-0.23203329
S189S189L-0.031781034
(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 TP63 from PDB

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Differential gene expression and gene-gene network for TP63
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)
* Left PPI network was created from samples with mutations in the LBS of TP63 and the right PPI network was created from samples without mutations in the LBS of TP63. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for TP63
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0007137Carcinoma, Squamous Cell51AlteredExpression, Biomarker
umls:C0007097Carcinoma33AlteredExpression, Biomarker, GeneticVariation
umls:C0406709Hay-Wells syndrome26Biomarker, GeneticVariation
umls:C0406704Ectrodactyly-cleft lip/palate syndrome24Biomarker, GeneticVariation
umls:C1785148Rapp-Hodgkin syndrome13Biomarker, GeneticVariation
umls:C0001418Adenocarcinoma13AlteredExpression, Biomarker, GeneticVariation
umls:C1863204Propping Zerres syndrome11Biomarker, GeneticVariation
umls:C0027627Neoplasm Metastasis11Biomarker
umls:C0152013Adenocarcinoma of lung8Biomarker, GeneticVariation
umls:C0008925Cleft Palate6Biomarker, GeneticVariation
umls:C0008924Cleft Lip4Biomarker, GeneticVariation
umls:C0016508Foot Deformities, Congenital4Biomarker
umls:C0206762Limb Deformities, Congenital4Biomarker
umls:C1863753Limb-mammary syndrome3Biomarker, GeneticVariation
umls:C0919267Ovarian Neoplasms3AlteredExpression, Biomarker
umls:C0024121Lung Neoplasms2Biomarker, GeneticVariation
umls:C0009404Colorectal Neoplasms2AlteredExpression, Biomarker
umls:C0206720Neoplasms, Squamous Cell2AlteredExpression, Biomarker
umls:C0376634Craniofacial Abnormalities2Biomarker
umls:C0018566Hand Deformities, Congenital2Biomarker
umls:C0000772Abnormalities, Multiple1Biomarker
umls:C0006145Breast Diseases1Biomarker
umls:C0007621Cell Transformation, Neoplastic1Biomarker
umls:C1720887Female Urogenital Diseases1Biomarker
umls:C0037268Skin Abnormalities1Biomarker
umls:C0038987Sweat Gland Neoplasms1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs
21573R343QPathogenicGermlineMedGen:C1858562
OMIM:604292
Orphanet:ORPHA1896

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Pharmacological information for TP63
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 statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of TP63 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of TP63
Multiple alignments for Q9H3D4 in multiple species
LBSAA sequence# speciesSpecies
A346EARICACPGRD3Homo sapiens, Mus musculus, Rattus norvegicus
C244EVVKRCPNHEL3Homo sapiens, Mus musculus, Rattus norvegicus
C308LYNFMCNSSCV3Homo sapiens, Mus musculus, Rattus norvegicus
C312MCNSSCVGGMN3Homo sapiens, Mus musculus, Rattus norvegicus
C345FEARICACPGR3Homo sapiens, Mus musculus, Rattus norvegicus
C347ARICACPGRDR3Homo sapiens, Mus musculus, Rattus norvegicus
H247KRCPNHELSRE3Homo sapiens, Mus musculus, Rattus norvegicus
K188QSSTAKSATWT3Homo sapiens, Mus musculus, Rattus norvegicus
N309YNFMCNSSCVG3Homo sapiens, Mus musculus, Rattus norvegicus
R318VGGMNRRPILI3Homo sapiens, Mus musculus, Rattus norvegicus
R343RCFEARICACP3Homo sapiens, Mus musculus, Rattus norvegicus
R350CACPGRDRKAD3Homo sapiens, Mus musculus, Rattus norvegicus
S189SSTAKSATWTY3Homo sapiens, Mus musculus, Rattus norvegicus
S311FMCNSSCVGGM3Homo sapiens, Mus musculus, Rattus norvegicus


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