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 CD40LG
Gene summary
Basic gene Info.Gene symbolCD40LG
Gene nameCD40 ligand
CytomapUCSC genome browser: Xq26
Type of geneprotein-coding
DescriptionCD40 antigen ligandCD40-LT-B cell-activating moleculeT-cell antigen Gp39TNF-related activation proteintumor necrosis factor (ligand) superfamily member 5
Modification date20141221
dbXrefs MIM : 300386
Ensembl : ENSG00000102245
HPRD : 02311
Vega : OTTHUMG00000022512
ProteinUniProt: P29965
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CD40LG
BioGPS: 959
PathwayNCI Pathway Interaction Database: CD40LG
Pathway Commons: CD40LG
ContextiHOP: CD40LG
ligand binding site mutation search in PubMed: CD40LG
UCL Cancer Institute: CD40LG
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0006954inflammatory response9468137
GO:0030168platelet activation9468137
GO:0032735positive regulation of interleukin-12 production9922218
GO:0042100B cell proliferation8605945
GO:0043066negative regulation of apoptotic process12697681
GO:2000353positive regulation of endothelial cell apoptotic process12885753

Ligand binding site mutations for CD40LG

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for CD40LG
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
(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 CD40LG from PDB

Differential gene expression and gene-gene network for CD40LG
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 CD40LG and the right PPI network was created from samples without mutations in the LBS of CD40LG. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for CD40LG
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0398689Hyper-IgM Immunodeficiency Syndrome, Type 190Biomarker, GeneticVariation
umls:C0004364Autoimmune Diseases16Biomarker
umls:C1956346Coronary Artery Disease6AlteredExpression, Biomarker
umls:C0032285Pneumonia2Biomarker, GeneticVariation
umls:C0002736Amyotrophic Lateral Sclerosis1Biomarker, Therapeutic
umls:C0020542Hypertension, Pulmonary1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

Pharmacological information for CD40LG
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 CD40LG go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of CD40LG
Multiple alignments for P29965 in multiple species
LBSAA sequence# speciesSpecies
A123----IAAHVIS4Homo sapiens, Canis lupus familiaris, Bos taurus, Macaca mulatta
A123----IAAHVVS2Mus musculus, Rattus norvegicus
A123KRQPIATHLAG1Gallus gallus
A173LYYIYAQVTFC2Homo sapiens, Macaca mulatta
A173LYYVYTQVTFC2Mus musculus, Rattus norvegicus
A173LYYIYSQVSFC1Gallus gallus
A173LYYVYAQVTFC1Canis lupus familiaris
A173FYYIYTQVTFC1Bos taurus
E230LGGVFELQPGA2Homo sapiens, Macaca mulatta
E230LGGVFELQAGA2Mus musculus, Rattus norvegicus
E230EGGVFELRQGD1Gallus gallus
E230LGGVFELHPGA1Canis lupus familiaris
E230LGGVFELQSGA1Bos taurus
H125--IAAHVISEA4Homo sapiens, Canis lupus familiaris, Bos taurus, Macaca mulatta
H125--IAAHVVSEA2Mus musculus, Rattus norvegicus
H125QPIATHLAGVK1Gallus gallus
H224GQQSIHLGGVF4Homo sapiens, Canis lupus familiaris, Bos taurus, Macaca mulatta
H224ELQSIREGGVF1Gallus gallus
H224EQQSVHLGGVF1Mus musculus
H224EQQSIHLGGVF1Rattus norvegicus
L168VKRQGLYYIYA2Homo sapiens, Macaca mulatta
L168VKREGLYYVYT2Mus musculus, Rattus norvegicus
L168VEKAGLYYIYS1Gallus gallus
L168VKRQGLYYVYA1Canis lupus familiaris
L168VKRQGFYYIYT1Bos taurus
L17SVATGLPASMK2Mus musculus, Rattus norvegicus
L17SVATGPPVSMK2Canis lupus familiaris, Bos taurus
L17SAATGLPISMK1Homo sapiens
L17PMGSTSPSTMK1Gallus gallus
L17SAATGLPVRMK1Macaca mulatta
L225QQSIHLGGVFE5Homo sapiens, Rattus norvegicus, Canis lupus familiaris, Bos taurus, Macaca mulatta
L225LQSIREGGVFE1Gallus gallus
L225QQSVHLGGVFE1Mus musculus
L259TSFGLLKL4Homo sapiens, Canis lupus familiaris, Bos taurus, Macaca mulatta
L259TYFGMFKL1Gallus gallus
L259SSFGLLKL1Mus musculus
L259SSIGLLKL1Rattus norvegicus
Q121GDQNPQ-----2Homo sapiens, Macaca mulatta
Q121GDEDPQ-----2Mus musculus, Rattus norvegicus
Q121GHEHPHLKSRN1Gallus gallus
Q121GDQDPR-----1Canis lupus familiaris
Q121GDQEPQ-----1Bos taurus
V228IHLGGVFELQP2Homo sapiens, Macaca mulatta
V228IREGGVFELRQ1Gallus gallus
V228VHLGGVFELQA1Mus musculus
V228IHLGGVFELQA1Rattus norvegicus
V228IHLGGVFELHP1Canis lupus familiaris
V228IHLGGVFELQS1Bos taurus
Y145WAEKGYYTMSN2Homo sapiens, Macaca mulatta
Y145WAKKGYYTMKS2Mus musculus, Rattus norvegicus
Y145WMTTS-YAPTS1Gallus gallus
Y145WAPKGYYTISS1Canis lupus familiaris
Y145WAPKGYYTLSN1Bos taurus
Y146AEKGYYTMSNN2Homo sapiens, Macaca mulatta
Y146AKKGYYTMKSN2Mus musculus, Rattus norvegicus
Y146MTTS-YAPTSS1Gallus gallus
Y146APKGYYTISSN1Canis lupus familiaris
Y146APKGYYTLSNN1Bos taurus
Y170RQGLYYIYAQV2Homo sapiens, Macaca mulatta
Y170REGLYYVYTQV2Mus musculus, Rattus norvegicus
Y170KAGLYYIYSQV1Gallus gallus
Y170RQGLYYVYAQV1Canis lupus familiaris
Y170RQGFYYIYTQV1Bos taurus
Y172GLYYIYAQVTF2Homo sapiens, Macaca mulatta
Y172GLYYVYTQVTF2Mus musculus, Rattus norvegicus
Y172GLYYIYSQVSF1Gallus gallus
Y172GLYYVYAQVTF1Canis lupus familiaris
Y172GFYYIYTQVTF1Bos taurus

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