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mutLBSgeneDB |
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| Gene summary for CD40LG |
 Gene summary |
| Basic gene Info. | Gene symbol | CD40LG |
| Gene name | CD40 ligand | |
| Synonyms | CD154|CD40L|HIGM1|IGM|IMD3|T-BAM|TNFSF5|TRAP|gp39|hCD40L | |
| Cytomap | UCSC genome browser: Xq26 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000074.2, | |
| Description | CD40 antigen ligandCD40-LT-B cell-activating moleculeT-cell antigen Gp39TNF-related activation proteintumor necrosis factor (ligand) superfamily member 5 | |
| Modification date | 20141221 | |
| dbXrefs | MIM : 300386 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000102245 | ||
| HPRD : 02311 | ||
| Vega : OTTHUMG00000022512 | ||
| Protein | UniProt: P29965 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CD40LG | |
| BioGPS: 959 | ||
| Pathway | NCI Pathway Interaction Database: CD40LG | |
| KEGG: CD40LG | ||
| REACTOME: CD40LG | ||
| Pathway Commons: CD40LG | ||
| Context | iHOP: CD40LG | |
| ligand binding site mutation search in PubMed: CD40LG | ||
| UCL Cancer Institute: CD40LG | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006954 | inflammatory response | 9468137 | GO:0030168 | platelet activation | 9468137 | GO:0032735 | positive regulation of interleukin-12 production | 9922218 | GO:0042100 | B cell proliferation | 8605945 | GO:0043066 | negative regulation of apoptotic process | 12697681 | GO:2000353 | positive regulation of endothelial cell apoptotic process | 12885753 |
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| Ligand binding site mutations for CD40LG |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | A173 | V175A | COAD | 1 | L168 | Q166H | LUAD | 1 | L17 | P18R | LUAD | 1 | H125,A123 | A124S | 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 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 |
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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 | H125 | A124S | -1.8559584 | A123 | A124S | -1.8559584 | A173 | V175A | -0.97553531 | L168 | Q166H | -0.30672977 | L17 | P18R | -0.23707821 |
| (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 |
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| 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) |
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| Phenotype information for CD40LG |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0398689 | Hyper-IgM Immunodeficiency Syndrome, Type 1 | 90 | Biomarker, GeneticVariation |
| umls:C0004364 | Autoimmune Diseases | 16 | Biomarker |
| umls:C1956346 | Coronary Artery Disease | 6 | AlteredExpression, Biomarker |
| umls:C0032285 | Pneumonia | 2 | Biomarker, GeneticVariation |
| umls:C0002736 | Amyotrophic Lateral Sclerosis | 1 | Biomarker, Therapeutic |
| umls:C0020517 | Hypersensitivity | 1 | Biomarker |
| umls:C0020542 | Hypertension, Pulmonary | 1 | Biomarker |
| umls:C0027540 | Necrosis | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| 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. |
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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 CD40LG go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | LKJ | (2R)-{[(2'-[(BIPHENYL-3-YLMETHYL)CARBAMOYL]-6'-{[(2R)-2-(PYRROLIDIN-1-YLMETHYL)PYRROLIDIN-1-YL]CARBONYL}-6-{[(2R)-2-(1H-PYRROL-1-YLMETHYL)PYRROLIDIN-1-YL]CARBONYL}-4,4'-BIPYRIDIN-2-YL)CARBONYL]AMINO}(CYCLOHEXYL)ETHANOIC ACID | 3lkj | C | A123 H125 | LKJ | (2R)-{[(2'-[(BIPHENYL-3-YLMETHYL)CARBAMOYL]-6'-{[(2R)-2-(PYRROLIDIN-1-YLMETHYL)PYRROLIDIN-1-YL]CARBONYL}-6-{[(2R)-2-(1H-PYRROL-1-YLMETHYL)PYRROLIDIN-1-YL]CARBONYL}-4,4'-BIPYRIDIN-2-YL)CARBONYL]AMINO}(CYCLOHEXYL)ETHANOIC ACID | 3lkj | B | A173 | LKJ | (2R)-{[(2'-[(BIPHENYL-3-YLMETHYL)CARBAMOYL]-6'-{[(2R)-2-(PYRROLIDIN-1-YLMETHYL)PYRROLIDIN-1-YL]CARBONYL}-6-{[(2R)-2-(1H-PYRROL-1-YLMETHYL)PYRROLIDIN-1-YL]CARBONYL}-4,4'-BIPYRIDIN-2-YL)CARBONYL]AMINO}(CYCLOHEXYL)ETHANOIC ACID | 3lkj | A | L168 |
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| Conservation information for LBS of CD40LG |
| Multiple alignments for P29965 in multiple species |
| LBS | AA sequence | # species | Species | A123 | ----IAAHVIS | 4 | Homo sapiens, Canis lupus familiaris, Bos taurus, Macaca mulatta | A123 | ----IAAHVVS | 2 | Mus musculus, Rattus norvegicus | A123 | KRQPIATHLAG | 1 | Gallus gallus | A173 | LYYIYAQVTFC | 2 | Homo sapiens, Macaca mulatta | A173 | LYYVYTQVTFC | 2 | Mus musculus, Rattus norvegicus | A173 | LYYIYSQVSFC | 1 | Gallus gallus | A173 | LYYVYAQVTFC | 1 | Canis lupus familiaris | A173 | FYYIYTQVTFC | 1 | Bos taurus | E230 | LGGVFELQPGA | 2 | Homo sapiens, Macaca mulatta | E230 | LGGVFELQAGA | 2 | Mus musculus, Rattus norvegicus | E230 | EGGVFELRQGD | 1 | Gallus gallus | E230 | LGGVFELHPGA | 1 | Canis lupus familiaris | E230 | LGGVFELQSGA | 1 | Bos taurus | H125 | --IAAHVISEA | 4 | Homo sapiens, Canis lupus familiaris, Bos taurus, Macaca mulatta | H125 | --IAAHVVSEA | 2 | Mus musculus, Rattus norvegicus | H125 | QPIATHLAGVK | 1 | Gallus gallus | H224 | GQQSIHLGGVF | 4 | Homo sapiens, Canis lupus familiaris, Bos taurus, Macaca mulatta | H224 | ELQSIREGGVF | 1 | Gallus gallus | H224 | EQQSVHLGGVF | 1 | Mus musculus | H224 | EQQSIHLGGVF | 1 | Rattus norvegicus | L168 | VKRQGLYYIYA | 2 | Homo sapiens, Macaca mulatta | L168 | VKREGLYYVYT | 2 | Mus musculus, Rattus norvegicus | L168 | VEKAGLYYIYS | 1 | Gallus gallus | L168 | VKRQGLYYVYA | 1 | Canis lupus familiaris | L168 | VKRQGFYYIYT | 1 | Bos taurus | L17 | SVATGLPASMK | 2 | Mus musculus, Rattus norvegicus | L17 | SVATGPPVSMK | 2 | Canis lupus familiaris, Bos taurus | L17 | SAATGLPISMK | 1 | Homo sapiens | L17 | PMGSTSPSTMK | 1 | Gallus gallus | L17 | SAATGLPVRMK | 1 | Macaca mulatta | L225 | QQSIHLGGVFE | 5 | Homo sapiens, Rattus norvegicus, Canis lupus familiaris, Bos taurus, Macaca mulatta | L225 | LQSIREGGVFE | 1 | Gallus gallus | L225 | QQSVHLGGVFE | 1 | Mus musculus | L259 | TSFGLLKL | 4 | Homo sapiens, Canis lupus familiaris, Bos taurus, Macaca mulatta | L259 | TYFGMFKL | 1 | Gallus gallus | L259 | SSFGLLKL | 1 | Mus musculus | L259 | SSIGLLKL | 1 | Rattus norvegicus | Q121 | GDQNPQ----- | 2 | Homo sapiens, Macaca mulatta | Q121 | GDEDPQ----- | 2 | Mus musculus, Rattus norvegicus | Q121 | GHEHPHLKSRN | 1 | Gallus gallus | Q121 | GDQDPR----- | 1 | Canis lupus familiaris | Q121 | GDQEPQ----- | 1 | Bos taurus | V228 | IHLGGVFELQP | 2 | Homo sapiens, Macaca mulatta | V228 | IREGGVFELRQ | 1 | Gallus gallus | V228 | VHLGGVFELQA | 1 | Mus musculus | V228 | IHLGGVFELQA | 1 | Rattus norvegicus | V228 | IHLGGVFELHP | 1 | Canis lupus familiaris | V228 | IHLGGVFELQS | 1 | Bos taurus | Y145 | WAEKGYYTMSN | 2 | Homo sapiens, Macaca mulatta | Y145 | WAKKGYYTMKS | 2 | Mus musculus, Rattus norvegicus | Y145 | WMTTS-YAPTS | 1 | Gallus gallus | Y145 | WAPKGYYTISS | 1 | Canis lupus familiaris | Y145 | WAPKGYYTLSN | 1 | Bos taurus | Y146 | AEKGYYTMSNN | 2 | Homo sapiens, Macaca mulatta | Y146 | AKKGYYTMKSN | 2 | Mus musculus, Rattus norvegicus | Y146 | MTTS-YAPTSS | 1 | Gallus gallus | Y146 | APKGYYTISSN | 1 | Canis lupus familiaris | Y146 | APKGYYTLSNN | 1 | Bos taurus | Y170 | RQGLYYIYAQV | 2 | Homo sapiens, Macaca mulatta | Y170 | REGLYYVYTQV | 2 | Mus musculus, Rattus norvegicus | Y170 | KAGLYYIYSQV | 1 | Gallus gallus | Y170 | RQGLYYVYAQV | 1 | Canis lupus familiaris | Y170 | RQGFYYIYTQV | 1 | Bos taurus | Y172 | GLYYIYAQVTF | 2 | Homo sapiens, Macaca mulatta | Y172 | GLYYVYTQVTF | 2 | Mus musculus, Rattus norvegicus | Y172 | GLYYIYSQVSF | 1 | Gallus gallus | Y172 | GLYYVYAQVTF | 1 | Canis lupus familiaris | Y172 | GFYYIYTQVTF | 1 | Bos taurus |
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