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 BIRC3
Gene summary
Basic gene Info.Gene symbolBIRC3
Gene namebaculoviral IAP repeat containing 3
SynonymsAIP1|API2|CIAP2|HAIP1|HIAP1|MALT2|MIHC|RNF49|c-IAP2
CytomapUCSC genome browser: 11q22
Type of geneprotein-coding
RefGenesNM_001165.4,
NM_182962.2,
DescriptionIAP homolog CIAP-1RING finger protein 49TNFR2-TRAF signaling complex proteinTNFR2-TRAF-signaling complex protein 1apoptosis inhibitor 2baculoviral IAP repeat-containing 3baculoviral IAP repeat-containing protein 3inhibitor of apoptosis protein 1m
Modification date20141207
dbXrefs MIM : 601721
HGNC : HGNC
Ensembl : ENSG00000023445
HPRD : 03426
Vega : OTTHUMG00000167324
ProteinUniProt: Q13489
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_BIRC3
BioGPS: 330
PathwayNCI Pathway Interaction Database: BIRC3
KEGG: BIRC3
REACTOME: BIRC3
Pathway Commons: BIRC3
ContextiHOP: BIRC3
ligand binding site mutation search in PubMed: BIRC3
UCL Cancer Institute: BIRC3
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:0016567protein ubiquitination16395405
GO:0031398positive regulation of protein ubiquitination21931591


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Ligand binding site mutations for BIRC3
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
C295G297RCOAD1
C295G297CCOAD1
C572P571SSKCM1
C591R592KSKCM1
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 BIRC3
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
C295G297R0.083226207
C591R592K-1.3218866
C572P571S-1.308876
C295G297C-0.053642002
(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 BIRC3 from PDB

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Differential gene expression and gene-gene network for BIRC3
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 BIRC3 and the right PPI network was created from samples without mutations in the LBS of BIRC3. 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 BIRC3
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0019693HIV Infections2Biomarker
umls:C0005695Urinary Bladder Neoplasms1AlteredExpression, Biomarker
umls:C0015695Fatty Liver1Biomarker
umls:C0023418Leukemia1Biomarker

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

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Pharmacological information for BIRC3
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 BIRC3 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ZNZINC(2+)2uvlAC295
ZNZINC(2+)2uvlBC295
ZNZINC(2+)3eb5AC572 C591
ZNZINC(2+)3eb6AC572 C591


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Conservation information for LBS of BIRC3
Multiple alignments for Q13489 in multiple species
LBSAA sequence# speciesSpecies
C292SDDVKCFCCDG3Homo sapiens, Mus musculus, Canis lupus familiaris
C295VKCFCCDGGLR3Homo sapiens, Mus musculus, Canis lupus familiaris
C319KWFPRCEYLIR2Homo sapiens, Canis lupus familiaris
C319KWFPRCEYLLR1Mus musculus
C557QEERTCKVCMD2Homo sapiens, Canis lupus familiaris
C557QEERMCKVCMD1Mus musculus
C560RTCKVCMDKEV2Homo sapiens, Canis lupus familiaris
C560RMCKVCMDREV1Mus musculus
C572IVFIPCGHLVV3Homo sapiens, Mus musculus, Canis lupus familiaris
C578GHLVVCKDCAP2Homo sapiens, Mus musculus
C578GHLVVCRDCAP1Canis lupus familiaris
C581VVCKDCAPSLR2Homo sapiens, Mus musculus
C581VVCRDCAPSLR1Canis lupus familiaris
C588PSLRKCPICRG2Mus musculus, Canis lupus familiaris
C588PSLRKCPICRS1Homo sapiens
C591RKCPICRSTIK1Homo sapiens
C591RKCPICRGTIK1Mus musculus
C591RKCPICRGTVR1Canis lupus familiaris
C66NDKVKCFCCGL2Homo sapiens, Mus musculus
C66KDRVRCFCCGL1Canis lupus familiaris
C69VKCFCCGLMLD2Homo sapiens, Mus musculus
C69VRCFCCGLMLD1Canis lupus familiaris
C93KLYPSCRFVQS1Homo sapiens
C93KLYPSCNFVQT1Mus musculus
C93NLYPSCSFIQN1Canis lupus familiaris
H312DPWVEHAKWFP2Mus musculus, Canis lupus familiaris
H312DPWVQHAKWFP1Homo sapiens
H574FIPCGHLVVCK2Homo sapiens, Mus musculus
H574FIPCGHLVVCR1Canis lupus familiaris
H86SPTEKHKKLYP1Homo sapiens
H86SPMEKHRKLYP1Mus musculus
H86SPTGKHRNLYP1Canis lupus familiaris


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