mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 BIRC5
Gene summary
Basic gene Info.Gene symbolBIRC5
Gene namebaculoviral IAP repeat containing 5
SynonymsAPI4|EPR-1
CytomapUCSC genome browser: 17q25
Type of geneprotein-coding
RefGenesNM_001012270.1,
NM_001012271.1,NM_001168.2,
Descriptionapoptosis inhibitor 4apoptosis inhibitor survivinbaculoviral IAP repeat-containing protein 5survivin variant 3 alpha
Modification date20141222
dbXrefs MIM : 603352
HGNC : HGNC
Ensembl : ENSG00000089685
HPRD : 04520
Vega : OTTHUMG00000177505
ProteinUniProt: O15392
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_BIRC5
BioGPS: 332
PathwayNCI Pathway Interaction Database: BIRC5
KEGG: BIRC5
REACTOME: BIRC5
Pathway Commons: BIRC5
ContextiHOP: BIRC5
ligand binding site mutation search in PubMed: BIRC5
UCL Cancer Institute: BIRC5
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:0000086G2/M transition of mitotic cell cycle9859993
GO:0006468protein phosphorylation21252625
GO:0043066negative regulation of apoptotic process10626797
GO:0043154negative regulation of cysteine-type endopeptidase activity involved in apoptotic process12773388


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Ligand binding site mutations for BIRC5
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
LBSAAchange of nsSNVCancer type# samples
E51P52QUCEC1
E76I74VUCEC1
H77G77DUCEC1
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 BIRC5
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
E51P52Q-0.86647862
E76I74V-0.76906294
(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 BIRC5 from PDB

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Differential gene expression and gene-gene network for BIRC5
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 BIRC5 and the right PPI network was created from samples without mutations in the LBS of BIRC5. 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 BIRC5
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C2239176Carcinoma, Hepatocellular32AlteredExpression, Biomarker, GeneticVariation, Therapeutic
umls:C0007131Carcinoma, Non-Small-Cell Lung17Biomarker, GeneticVariation
umls:C1458155Breast Neoplasms15AlteredExpression, Biomarker, GeneticVariation
umls:C0024121Lung Neoplasms11AlteredExpression, Biomarker, GeneticVariation, Therapeutic
umls:C0038356Stomach Neoplasms10AlteredExpression, Biomarker, GeneticVariation
umls:C0009404Colorectal Neoplasms7AlteredExpression, Biomarker
umls:C0919267Ovarian Neoplasms7AlteredExpression, Biomarker, Therapeutic
umls:C0007134Carcinoma, Renal Cell7AlteredExpression, Biomarker, GeneticVariation, Therapeutic
umls:C0009375Colonic Neoplasms6AlteredExpression, Biomarker, GeneticVariation, Therapeutic
umls:C0023473Leukemia, Myelogenous, Chronic, BCR-ABL Positive5Biomarker, GeneticVariation, Therapeutic
umls:C0262584Carcinoma, Small Cell1Biomarker
umls:C0014170Endometrial Neoplasms1Biomarker
umls:C0017661Glomerulonephritis, IGA1Biomarker
umls:C0023462Leukemia, Megakaryoblastic, Acute1Therapeutic

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

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Pharmacological information for BIRC5
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
InvestigationalDB05141LY2181308Small molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of BIRC5 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (ALA,ARG,THR,LYS)3uikAE51
IIIPeptide ligand (ALA,ARG,THR,LYS)3uecAE51 E76
IIIPeptide ligand (ALA,ARG,THR,LYS,GLN)3ueeAE51 E76
IIIPeptide ligand (ALA,ARG,THR,LYS,GLN)3uigAE51 E76
IIIPeptide ligand (ALA,VAL,PRO,ILE)3uihAE51 E76
IIIPeptide ligand (ALA,ARG,THR,LYS)3uiiAE51 E76
IIIPeptide ligand (ALA,VAL,PRO,ILE)3uijAE51 E76
IIIPeptide ligand (ALA,LYS,GLU,ARG)4a0iAE51 E76
IIIPeptide ligand (ALA,LYS,GLU,ARG)4a0iBE51 E76
IIIPeptide ligand (ALA,ARG,THR,LYS,GLN,THR)4a0jAE51 E76
IIIPeptide ligand (ALA,ARG,THR,LYS,GLN)4a0jBE51 E76
IIIPeptide ligand (ALA,ARG,THR,LYS)4a0nAE51 E76
IIIPeptide ligand (ALA,ARG,THR,LYS,GLN,THR)3uedAE76
IIIPeptide ligand (ALA,ARG,THR,LYS,GLN,THR)3uedCE76
IIIPeptide ligand (ALA,ARG,THR,LYS,GLN)3ueeCE76
IIIPeptide ligand (ALA,ARG,THR,LYS,GLN)3uefAE76
IIIPeptide ligand (ALA,ARG,THR,LYS)3uefCE76
IIIPeptide ligand (ALA,ARG,THR,LYS,GLN)3uigBE76
IIIPeptide ligand (ALA,VAL,PRO,ILE)3uihBE76
IIIPeptide ligand (ALA,ARG,THR,LYS)3uiiBE76
IIIPeptide ligand (ALA,VAL,PRO)3uijBE76
IIIPeptide ligand (ALA,ARG,THR,LYS)3uikBE76
ZNZINC(2+)1e31AH77
ZNZINC(2+)1e31BH77
ZNZINC(2+)1f3hAH77
ZNZINC(2+)1f3hBH77
ZNZINC(2+)1xoxAH77
ZNZINC(2+)1xoxBH77
ZNZINC(2+)2qfaAH77
ZNZINC(2+)2rawAH77
ZNZINC(2+)2raxAH77
ZNZINC(2+)2raxEH77
ZNZINC(2+)2raxXH77
ZNZINC(2+)3uecAH77
ZNZINC(2+)3uedAH77
ZNZINC(2+)3uedCH77
ZNZINC(2+)3ueeAH77
ZNZINC(2+)3ueeCH77
ZNZINC(2+)3uefAH77
ZNZINC(2+)3uefCH77
ZNZINC(2+)3uegAH77
ZNZINC(2+)3uegBH77
ZNZINC(2+)3uehAH77
ZNZINC(2+)3uehBH77
ZNZINC(2+)3ueiAH77
ZNZINC(2+)3ueiBH77
ZNZINC(2+)3uigAH77
ZNZINC(2+)3uigBH77
ZNZINC(2+)3uihAH77
ZNZINC(2+)3uihBH77
ZNZINC(2+)3uiiAH77
ZNZINC(2+)3uiiBH77
ZNZINC(2+)3uijAH77
ZNZINC(2+)3uijBH77
ZNZINC(2+)3uikAH77
ZNZINC(2+)3uikBH77
ZNZINC(2+)4a0iAH77
ZNZINC(2+)4a0iBH77
ZNZINC(2+)4a0jAH77
ZNZINC(2+)4a0jBH77
ZNZINC(2+)4a0nAH77


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Conservation information for LBS of BIRC5
Multiple alignments for O15392 in multiple species
LBSAA sequence# speciesSpecies
C57PDLAQCFFCFK5Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus
C57PDVVKCFFCLK1Xenopus tropicalis
C60AQCFFCFKELE5Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus
C60VKCFFCLKELE1Xenopus tropicalis
C84KHSSGCAFLSV3Homo sapiens, Canis lupus familiaris, Bos taurus
C84KHSPGCAFLTV2Mus musculus, Rattus norvegicus
C84KHSPSCLFIAL1Xenopus tropicalis
D71GWEPDDDPIEE3Homo sapiens, Canis lupus familiaris, Bos taurus
D71GWEPDDNPIEE2Mus musculus, Rattus norvegicus
D71GWQPEDDPMDE1Xenopus tropicalis
E51CPTENEPDLAQ5Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus
E51CPSDNSPDVVK1Xenopus tropicalis
E63FFCFKELEGWE5Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus
E63FFCLKELEGWQ1Xenopus tropicalis
E65CFKELEGWEPD5Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus
E65CLKELEGWQPE1Xenopus tropicalis
E76DDPIEEHKKHS3Homo sapiens, Canis lupus familiaris, Bos taurus
E76DNPIEEHRKHS2Mus musculus, Rattus norvegicus
E76DDPMDEHKKHS1Xenopus tropicalis
F58DLAQCFFCFKE5Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus
F58DVVKCFFCLKE1Xenopus tropicalis
G66FKELEGWEPDD5Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus
G66LKELEGWQPED1Xenopus tropicalis
H77DPIEEHKKHSS3Homo sapiens, Canis lupus familiaris, Bos taurus
H77NPIEEHRKHSP2Mus musculus, Rattus norvegicus
H77DPMDEHKKHSP1Xenopus tropicalis
H80EEHKKHSSGCA3Homo sapiens, Canis lupus familiaris, Bos taurus
H80EEHRKHSPGCA2Mus musculus, Rattus norvegicus
H80DEHKKHSPSCL1Xenopus tropicalis
K62CFFCFKELEGW5Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus
K62CFFCLKELEGW1Xenopus tropicalis
L54ENEPDLAQCFF5Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus
L54DNSPDVVKCFF1Xenopus tropicalis
L64FCFKELEGWEP5Homo sapiens, Canis lupus familiaris, Bos taurus, Mus musculus, Rattus norvegicus
L64FCLKELEGWQP1Xenopus tropicalis
W67KELEGWEPDDD3Homo sapiens, Canis lupus familiaris, Bos taurus
W67KELEGWEPDDN2Mus musculus, Rattus norvegicus
W67KELEGWQPEDD1Xenopus tropicalis


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