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 HIBCH
Gene summary
Basic gene Info.Gene symbolHIBCH
Gene name3-hydroxyisobutyryl-CoA hydrolase
SynonymsHIBYLCOAH
CytomapUCSC genome browser: 2q32.2
Type of geneprotein-coding
RefGenesNM_014362.3,
NM_198047.2,
Description3-hydroxyisobutyryl-CoA hydrolase, mitochondrial3-hydroxyisobutyryl-Coenzyme A hydrolaseHIB-CoA hydrolaseHIBYL-CoA-H
Modification date20141207
dbXrefs MIM : 610690
HGNC : HGNC
Ensembl : ENSG00000198130
HPRD : 11023
Vega : OTTHUMG00000132673
ProteinUniProt: Q6NVY1
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_HIBCH
BioGPS: 26275
PathwayNCI Pathway Interaction Database: HIBCH
KEGG: HIBCH
REACTOME: HIBCH
Pathway Commons: HIBCH
ContextiHOP: HIBCH
ligand binding site mutation search in PubMed: HIBCH
UCL Cancer Institute: HIBCH
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for HIBCH
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
G146G147RCOAD1
E121M123ILUAD1
L174F175LLUSC1
P168M167IUCEC1
A96A96VUCEC1
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 HIBCH
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
G146G147R0.00569555
P168M167I-1.1194309
E121M123I-0.9826322
L174F175L-0.42828851
A96A96V-0.20450519
(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 HIBCH from PDB

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Differential gene expression and gene-gene network for HIBCH
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 HIBCH and the right PPI network was created from samples without mutations in the LBS of HIBCH. 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 HIBCH
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0342738Beta-Hydroxyisobutyryl CoA Deacylase Deficiency1Biomarker, GeneticVariation
umls:C0029408Osteoarthritis1Biomarker

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

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Pharmacological information for HIBCH
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
ExperimentalDB04216QuercetinSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of HIBCH go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
QUEQUERCETIN3bptAA96 P168
HIU3-HYDROXY-2-ISOBUTYRATE3bptAE121 G146 L174


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Conservation information for LBS of HIBCH
Multiple alignments for Q6NVY1 in multiple species
LBSAA sequence# speciesSpecies
A59PKQLNALSFHM2Arabidopsis thaliana, Arabidopsis thaliana
A59PKFLNALTLNM1Homo sapiens
A59PKKLNALNAEM1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A59PKVLNAINVDM1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A59PKQLNALCFNM1Arabidopsis thaliana
A59PKALNALTLNM1Danio rerio
A59PKALNALNLGM1Xenopus tropicalis
A59PKVLNALSFKM1Gallus gallus
A59PKFLNALSLNM1Mus musculus
A59PKLLNALSLNM1Rattus norvegicus
A96-KAFCAGGDIR3Homo sapiens, Danio rerio, Xenopus tropicalis
A96-KAFCAGGDIK2Mus musculus, Rattus norvegicus
A96PRSFCAGGDVA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A96-RSFSSGGDIK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A96-RAFSAGGDIP1Arabidopsis thaliana
A96-RAFCAGGDVA1Arabidopsis thaliana
A96-RAFCAGGDVP1Arabidopsis thaliana
A96-KAFCAGGDVR1Gallus gallus
D177IGLFPDVGGGY6Homo sapiens, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus, Rattus norvegicus
D177LGLFPDVGASY3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
D177IGFFPDVGSTF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D177IGYFTDVAASF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E121DLFREEYILNN2Mus musculus, Rattus norvegicus
E121VFFREEYMLNN1Homo sapiens
E121KFFTDEYSLNF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E121HAFAQEYRLSH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E121HYFKVGYTLNY1Arabidopsis thaliana
E121NYFSSEYMLNY1Arabidopsis thaliana
E121DFFRDQYTLNY1Arabidopsis thaliana
E121VFFREEYILNN1Danio rerio
E121DFFREEYILNN1Xenopus tropicalis
E121DYFREEYRLDN1Gallus gallus
E169LFAMPETGIGL3Danio rerio, Mus musculus, Rattus norvegicus
E169LFAMPETAIGL2Homo sapiens, Xenopus tropicalis
E169VFAMPETALGL2Arabidopsis thaliana, Arabidopsis thaliana
E169KWAMPEMDIGF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E169MFAMPETGIGY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E169VFAMPETSLGL1Arabidopsis thaliana
E169VFAMPETAIGL1Gallus gallus
F118IAPVFFREEYM1Homo sapiens
F118KSIKFFTDEYS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F118EVRHAFAQEYR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F118RGAHYFKVGYT1Arabidopsis thaliana
F118LGANYFSSEYM1Arabidopsis thaliana
F118LGADFFRDQYT1Arabidopsis thaliana
F118LSQVFFREEYI1Danio rerio
F118LAQDFFREEYI1Xenopus tropicalis
F118MTRDYFREEYR1Gallus gallus
F118LTQDLFREEYI1Mus musculus
F118LSQDLFREEYI1Rattus norvegicus
F56LNRPKFLNALT1Homo sapiens
F56LNRPKKLNALN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F56LNRPKVLNAIN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F56FNRPKQLNALS1Arabidopsis thaliana
F56LNRPKQLNALS1Arabidopsis thaliana
F56LNRPKQLNALC1Arabidopsis thaliana
F56LNRPKALNALT1Danio rerio
F56LNRPKALNALN1Xenopus tropicalis
F56LNRPKVLNALS1Gallus gallus
F56LNRPKFLNALS1Mus musculus
F56LNRPKLLNALS1Rattus norvegicus
G145DGITMGGGVGL5Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Xenopus tropicalis, Gallus gallus, Mus musculus, Rattus norvegicus
G145HGITMGGGVGL1Homo sapiens
G145NGITMGGGSGL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G145NGIVMGGGAGL1Arabidopsis thaliana
G145NGIVMGGGAGV1Arabidopsis thaliana
G145NGIVMGAGAGV1Arabidopsis thaliana
G145NGITMGGGVGL1Danio rerio
G146GITMGGGVGLS7Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus, Rattus norvegicus
G146GITMGGGSGLA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G146GIVMGGGAGLS1Arabidopsis thaliana
G146GIVMGGGAGVS1Arabidopsis thaliana
G146GIVMGAGAGVS1Arabidopsis thaliana
G97KAFCAGGDIRA2Danio rerio, Xenopus tropicalis
G97KAFCAGGDIKA2Mus musculus, Rattus norvegicus
G97KAFCAGGDIRV1Homo sapiens
G97RSFCAGGDVAT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G97RSFSSGGDIKA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G97RAFSAGGDIPP1Arabidopsis thaliana
G97RAFCAGGDVAA1Arabidopsis thaliana
G97RAFCAGGDVPP1Arabidopsis thaliana
G97KAFCAGGDVRA1Gallus gallus
G98AFCAGGDIKAL2Mus musculus, Rattus norvegicus
G98AFCAGGDIRVI1Homo sapiens
G98SFCAGGDVATV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G98SFSSGGDIKAA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G98AFSAGGDIPPI1Arabidopsis thaliana
G98AFCAGGDVAAV1Arabidopsis thaliana
G98AFCAGGDVPPV1Arabidopsis thaliana
G98AFCAGGDIRAI1Danio rerio
G98AFCAGGDIRAV1Xenopus tropicalis
G98AFCAGGDVRAI1Gallus gallus
I100CAGGDIKALSE2Mus musculus, Rattus norvegicus
I100CAGGDIRVISE1Homo sapiens
I100CAGGDVATVAI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I100SSGGDIKAAAL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I100SAGGDIPPIVR1Arabidopsis thaliana
I100CAGGDVAAVVR1Arabidopsis thaliana
I100CAGGDVPPVVQ1Arabidopsis thaliana
I100CAGGDIRAIAE1Danio rerio
I100CAGGDIRAVTD1Xenopus tropicalis
I100CAGGDVRAIAD1Gallus gallus
I172MPETAIGLFPD3Homo sapiens, Xenopus tropicalis, Gallus gallus
I172MPETGIGLFPD3Danio rerio, Mus musculus, Rattus norvegicus
I172MPETALGLFPD2Arabidopsis thaliana, Arabidopsis thaliana
I172MPEMDIGFFPD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I172MPETGIGYFTD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I172MPETSLGLFPD1Arabidopsis thaliana
L174ETAIGLFPDVG3Homo sapiens, Xenopus tropicalis, Gallus gallus
L174ETGIGLFPDVG3Danio rerio, Mus musculus, Rattus norvegicus
L174ETALGLFPDVG2Arabidopsis thaliana, Arabidopsis thaliana
L174EMDIGFFPDVG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L174ETGIGYFTDVA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L174ETSLGLFPDVG1Arabidopsis thaliana
L350GVRAVLIDKDQ5Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Rattus norvegicus
L350ATKHKLIDKQR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L350GVNAQLITKTK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L350GCRAVLIDKDR1Arabidopsis thaliana
L350GCRAILVDKDK1Arabidopsis thaliana
L350GCRAILIDKDR1Arabidopsis thaliana
L350GVRAVLIDKNQ1Xenopus tropicalis
L57NRPKQLNALSF2Arabidopsis thaliana, Arabidopsis thaliana
L57NRPKFLNALTL1Homo sapiens
L57NRPKKLNALNA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L57NRPKVLNAINV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L57NRPKQLNALCF1Arabidopsis thaliana
L57NRPKALNALTL1Danio rerio
L57NRPKALNALNL1Xenopus tropicalis
L57NRPKVLNALSF1Gallus gallus
L57NRPKFLNALSL1Mus musculus
L57NRPKLLNALSL1Rattus norvegicus
P168TVFAMPETALG2Arabidopsis thaliana, Arabidopsis thaliana
P168SLFAMPETGIG2Mus musculus, Rattus norvegicus
P168CLFAMPETAIG1Homo sapiens
P168TKWAMPEMDIG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
P168TMFAMPETGIG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P168TVFAMPETSLG1Arabidopsis thaliana
P168TLFAMPETGIG1Danio rerio
P168TLFAMPETAIG1Xenopus tropicalis
P168TVFAMPETAIG1Gallus gallus
V178GLFPDVGGGYF6Homo sapiens, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus, Rattus norvegicus
V178GLFPDVGASYF3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
V178GFFPDVGSTFA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V178GYFTDVAASFF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V349EGVRAVLIDKD5Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Rattus norvegicus
V349EATKHKLIDKQ1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V349EGVNAQLITKT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V349EGCRAVLIDKD1Arabidopsis thaliana
V349EGCRAILVDKD1Arabidopsis thaliana
V349EGCRAILIDKD1Arabidopsis thaliana
V349EGVRAVLIDKN1Xenopus tropicalis


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