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 ITGB6
Gene summary
Basic gene Info.Gene symbolITGB6
Gene nameintegrin, beta 6
Synonyms-
CytomapUCSC genome browser: 2q24.2
Type of geneprotein-coding
RefGenesNM_000888.4,
NM_001282353.1,NM_001282354.1,NM_001282355.1,NM_001282388.1,
NM_001282389.1,NM_001282390.1,
Descriptionintegrin beta-6
Modification date20141222
dbXrefs MIM : 147558
HGNC : HGNC
Ensembl : ENSG00000115221
HPRD : 00947
Vega : OTTHUMG00000132026
ProteinUniProt: P18564
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ITGB6
BioGPS: 3694
PathwayNCI Pathway Interaction Database: ITGB6
KEGG: ITGB6
REACTOME: ITGB6
Pathway Commons: ITGB6
ContextiHOP: ITGB6
ligand binding site mutation search in PubMed: ITGB6
UCL Cancer Institute: ITGB6
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 ITGB6

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
C197C197YCOAD1
P196N195DCOAD1
A143A143TCOAD1
P196N195SCOAD1
S144S144FSKCM1
A234I232MUCEC1
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 ITGB6
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
P196N195S-1.3708835
P196N195D-1.2709414
S144S144F-1.1998156
A234I232M-0.98710681
A143A143T-0.76699283
C197C197Y-0.68045573
(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 ITGB6 from PDB

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Differential gene expression and gene-gene network for ITGB6
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 ITGB6 and the right PPI network was created from samples without mutations in the LBS of ITGB6. 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 ITGB6
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0034067Pulmonary Emphysema3Biomarker
umls:C0023893Liver Cirrhosis, Experimental2Biomarker
umls:C0000786Abortion, Spontaneous1Biomarker
umls:C0524910Hepatitis C, Chronic1Biomarker
umls:C0023895Liver Diseases1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs
178848A143TPathogenicGermlineMedGen:CN225925
OMIM:616221
Orphanet:ORPHA88661

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Pharmacological information for ITGB6
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 ITGB6 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of ITGB6
Multiple alignments for P18564 in multiple species
LBSAA sequence# speciesSpecies
A143LMDLSASMDDD4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
A234NQKISANIDTP2Homo sapiens, Bos taurus
A234KQKISANIDTP2Mus musculus, Rattus norvegicus
C197EIANPCSSIPY2Homo sapiens, Bos taurus
C197EITNPCSSIPY2Mus musculus, Rattus norvegicus
D140LYYLMDLSASM4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
D147SASMDDDLNTI4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
D148ASMDDDLNTIK4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
D237ISANIDTPEGG4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
D271LVFVSDADSHF4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
E179FGSFVEKPVSP3Homo sapiens, Mus musculus, Rattus norvegicus
E179FGSFVEKPISP1Bos taurus
E240NIDTPEGGFDA4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
I200NPCSSIPYFCL4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
I236KISANIDTPEG4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
K355VGLLQKDSGNI3Homo sapiens, Mus musculus, Rattus norvegicus
K355VGVLQKDSGNI1Bos taurus
M145DLSASMDDDLN4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
N235QKISANIDTPE4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
P196EEIANPCSSIP2Homo sapiens, Bos taurus
P196EEITNPCSSIP2Mus musculus, Rattus norvegicus
P239ANIDTPEGGFD4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
S142YLMDLSASMDD4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
S144MDLSASMDDDL4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
T238SANIDTPEGGF4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
Y202CSSIPYFCLPT4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus


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