mutLBSgeneDB |
Gene summary for ITGB6 |
Gene summary |
Basic gene Info. | Gene symbol | ITGB6 |
Gene name | integrin, beta 6 | |
Synonyms | - | |
Cytomap | UCSC genome browser: 2q24.2 | |
Type of gene | protein-coding | |
RefGenes | NM_000888.4, NM_001282353.1,NM_001282354.1,NM_001282355.1,NM_001282388.1, NM_001282389.1,NM_001282390.1, | |
Description | integrin beta-6 | |
Modification date | 20141222 | |
dbXrefs | MIM : 147558 | |
HGNC : HGNC | ||
Ensembl : ENSG00000115221 | ||
HPRD : 00947 | ||
Vega : OTTHUMG00000132026 | ||
Protein | UniProt: P18564 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ITGB6 | |
BioGPS: 3694 | ||
Pathway | NCI Pathway Interaction Database: ITGB6 | |
KEGG: ITGB6 | ||
REACTOME: ITGB6 | ||
Pathway Commons: ITGB6 | ||
Context | iHOP: ITGB6 | |
ligand binding site mutation search in PubMed: ITGB6 | ||
UCL Cancer Institute: ITGB6 | ||
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 |
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Ligand binding site mutations for ITGB6 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | C197 | C197Y | COAD | 1 | P196 | N195D | COAD | 1 | A143 | A143T | COAD | 1 | P196 | N195S | COAD | 1 | S144 | S144F | SKCM | 1 | A234 | I232M | UCEC | 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 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. |
LBS | AAchange of nsSNV | Relative stability change | P196 | N195S | -1.3708835 | P196 | N195D | -1.2709414 | S144 | S144F | -1.1998156 | A234 | I232M | -0.98710681 | A143 | A143T | -0.76699283 | C197 | C197Y | -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) |
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Phenotype information for ITGB6 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0034067 | Pulmonary Emphysema | 3 | Biomarker |
umls:C0023893 | Liver Cirrhosis, Experimental | 2 | Biomarker |
umls:C0000786 | Abortion, Spontaneous | 1 | Biomarker |
umls:C0524910 | Hepatitis C, Chronic | 1 | Biomarker |
umls:C0023895 | Liver Diseases | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
178848 | A143T | Pathogenic | Germline | MedGen: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 status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of ITGB6 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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Conservation information for LBS of ITGB6 |
Multiple alignments for P18564 in multiple species |
LBS | AA sequence | # species | Species | A143 | LMDLSASMDDD | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | A234 | NQKISANIDTP | 2 | Homo sapiens, Bos taurus | A234 | KQKISANIDTP | 2 | Mus musculus, Rattus norvegicus | C197 | EIANPCSSIPY | 2 | Homo sapiens, Bos taurus | C197 | EITNPCSSIPY | 2 | Mus musculus, Rattus norvegicus | D140 | LYYLMDLSASM | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D147 | SASMDDDLNTI | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D148 | ASMDDDLNTIK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D237 | ISANIDTPEGG | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D271 | LVFVSDADSHF | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | E179 | FGSFVEKPVSP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E179 | FGSFVEKPISP | 1 | Bos taurus | E240 | NIDTPEGGFDA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | I200 | NPCSSIPYFCL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | I236 | KISANIDTPEG | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | K355 | VGLLQKDSGNI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K355 | VGVLQKDSGNI | 1 | Bos taurus | M145 | DLSASMDDDLN | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | N235 | QKISANIDTPE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | P196 | EEIANPCSSIP | 2 | Homo sapiens, Bos taurus | P196 | EEITNPCSSIP | 2 | Mus musculus, Rattus norvegicus | P239 | ANIDTPEGGFD | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | S142 | YLMDLSASMDD | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | S144 | MDLSASMDDDL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | T238 | SANIDTPEGGF | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | Y202 | CSSIPYFCLPT | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus |
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