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 FABP6
Gene summary
Basic gene Info.Gene symbolFABP6
Gene namefatty acid binding protein 6, ileal
SynonymsI-15P|I-BABP|I-BALB|I-BAP|ILBP|ILBP3|ILLBP
CytomapUCSC genome browser: 5q33.3-q34
Type of geneprotein-coding
RefGenesNM_001040442.1,
NM_001130958.1,NM_001445.2,
DescriptionGTgastrotropinileal bile acid binding proteinileal lipid-binding proteinilleal lipid-binding proteinintestinal 15 kDa protein
Modification date20141207
dbXrefs MIM : 600422
HGNC : HGNC
Ensembl : ENSG00000170231
HPRD : 02689
Vega : OTTHUMG00000130329
ProteinUniProt: P51161
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_FABP6
BioGPS: 2172
PathwayNCI Pathway Interaction Database: FABP6
KEGG: FABP6
REACTOME: FABP6
Pathway Commons: FABP6
ContextiHOP: FABP6
ligand binding site mutation search in PubMed: FABP6
UCL Cancer Institute: FABP6
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 FABP6
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
M19M19LBRCA1
F3,F7G5DGBM1
Q52,W50S51YHNSC1
F3,F7G5DKIRC1
A32R33HSTAD1
E103E103DSTAD1
Y54G56RSTAD1
A32,V28E30KUCEC1
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 FABP6
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
A32R33H-1.4332177
V28E30K-1.2483629
A32E30K-1.2483629
E103E103D-1.0425788
F3G5D-0.6726704
F7G5D-0.6726704
W50S51Y-0.24777642
Q52S51Y-0.24777642
M19M19L-0.22683268
Y54G56R-0.16358156
(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 FABP6 from PDB

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Differential gene expression and gene-gene network for FABP6
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 FABP6 and the right PPI network was created from samples without mutations in the LBS of FABP6. 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 FABP6
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

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Pharmacological information for FABP6
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
ApprovedDB02659Cholic AcidSmall molecule
ExperimentalDB02691N-CholylglycineSmall molecule
ExperimentalDB04348Taurocholic AcidSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of FABP6 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of FABP6
Multiple alignments for P51161 in multiple species
LBSAA sequence# speciesSpecies
A32DVIEKARNFKI1Homo sapiens
A32DRIEKGRNFKV1Bos taurus
A32DVIERGRNFKI1Mus musculus
A32EVIERGRNFKI1Rattus norvegicus
E103YHQTSEVVGDK2Mus musculus, Rattus norvegicus
E103YHQTSEIVGDK1Homo sapiens
E103YHHTVEIVDGK1Bos taurus
E111GDKLVEISTIG2Mus musculus, Rattus norvegicus
E111GDKLVEVSTIG1Homo sapiens
E111DGKLVEVSTFG1Bos taurus
F18KNYDEFMKRLG3Bos taurus, Mus musculus, Rattus norvegicus
F18KNYDEFMKLLG1Homo sapiens
F34Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
F48QDGQDFTWSQH1Homo sapiens
F48QDGQNFTWSQH1Bos taurus
F48QDGQDFTWSQS1Mus musculus
F48QDGENFTWSQS1Rattus norvegicus
F64IMSNKFTIGKE2Mus musculus, Rattus norvegicus
F64TMTNKFTVGKE1Homo sapiens
F64SISNNFTIGKE1Bos taurus
F7AFTGKFEMESE1Homo sapiens
F7AFTGKYETESE1Bos taurus
F7AFSGKYEFESE1Mus musculus
F7AFTGKYEFESE1Rattus norvegicus
F80MGGKKFKATVK2Mus musculus, Rattus norvegicus
F80MGGKTFKATVQ1Homo sapiens
F80VGNKKFKVTVK1Bos taurus
F95KLVVNFPNYHQ1Homo sapiens
F95KVVVDSANYHH1Bos taurus
F95KVVAEFPNYHQ1Mus musculus
F95KVVADFPNYHQ1Rattus norvegicus
G23FMKLLGISSDV1Homo sapiens
G23FMKRLGLSSDR1Bos taurus
G23FMKRLGLPGDV1Mus musculus
G23FMKRLGLPDEV1Rattus norvegicus
G76EMQTMGGKKFK2Mus musculus, Rattus norvegicus
G76NIQTMGGKTFK1Homo sapiens
G76EMETVGNKKFK1Bos taurus
I24MKLLGISSDVI1Homo sapiens
I24MKRLGLSSDRI1Bos taurus
I24MKRLGLPGDVI1Mus musculus
I24MKRLGLPDEVI1Rattus norvegicus
I37GRNFKIITEVQ2Mus musculus, Rattus norvegicus
I37ARNFKIVTEVQ1Homo sapiens
I37GRNFKVISEIQ1Bos taurus
I72GKECEMQTMGG2Mus musculus, Rattus norvegicus
I72GKESNIQTMGG1Homo sapiens
I72GKETEMETVGN1Bos taurus
L109VVGDKLVEIST2Mus musculus, Rattus norvegicus
L109IVGDKLVEVST1Homo sapiens
L109IVDGKLVEVST1Bos taurus
L22EFMKLLGISSD1Homo sapiens
L22EFMKRLGLSSD1Bos taurus
L22EFMKRLGLPGD1Mus musculus
L22EFMKRLGLPDE1Rattus norvegicus
L91MEGGKLVVNFP1Homo sapiens
L91MEGGKVVVDSA1Bos taurus
L91MEGGKVVAEFP1Mus musculus
L91MEGGKVVADFP1Rattus norvegicus
M19NYDEFMKRLGL3Bos taurus, Mus musculus, Rattus norvegicus
M19NYDEFMKLLGI1Homo sapiens
M60SGGNIMSNKFT2Mus musculus, Rattus norvegicus
M60SGGHTMTNKFT1Homo sapiens
M60PGGHSISNNFT1Bos taurus
M75CEMQTMGGKKF2Mus musculus, Rattus norvegicus
M75SNIQTMGGKTF1Homo sapiens
M75TEMETVGNKKF1Bos taurus
M9TGKFEMESEKN1Homo sapiens
M9TGKYETESEKN1Bos taurus
M9SGKYEFESEKN1Mus musculus
M9TGKYEFESEKN1Rattus norvegicus
N62GNIMSNKFTIG2Mus musculus, Rattus norvegicus
N62GHTMTNKFTVG1Homo sapiens
N62GHSISNNFTIG1Bos taurus
Q100FPNYHQTSEVV2Mus musculus, Rattus norvegicus
Q100FPNYHQTSEIV1Homo sapiens
Q100SANYHHTVEIV1Bos taurus
Q52DFTWSQHYSGG1Homo sapiens
Q52NFTWSQHYPGG1Bos taurus
Q52DFTWSQSYSGG1Mus musculus
Q52NFTWSQSYSGG1Rattus norvegicus
Q73KECEMQTMGGK2Mus musculus, Rattus norvegicus
Q73KESNIQTMGGK1Homo sapiens
Q73KETEMETVGNK1Bos taurus
R122GVTYERVSKRL1Homo sapiens
R122GVIYERVSKKV1Bos taurus
R122DVTYERVSKRL1Mus musculus
R122DVTYERVSKRV1Rattus norvegicus
S102NYHQTSEVVGD2Mus musculus, Rattus norvegicus
S102NYHQTSEIVGD1Homo sapiens
S102NYHHTVEIVDG1Bos taurus
S124TYERVSKRLA2Homo sapiens, Mus musculus
S124IYERVSKKVA1Bos taurus
S124TYERVSKRVA1Rattus norvegicus
T39NFKIITEVQQD2Mus musculus, Rattus norvegicus
T39NFKIVTEVQQD1Homo sapiens
T39NFKVISEIQQD1Bos taurus
T74ECEMQTMGGKK2Mus musculus, Rattus norvegicus
T74ESNIQTMGGKT1Homo sapiens
T74ETEMETVGNKK1Bos taurus
V28GISSDVIEKAR1Homo sapiens
V28GLSSDRIEKGR1Bos taurus
V28GLPGDVIERGR1Mus musculus
V28GLPDEVIERGR1Rattus norvegicus
V38RNFKIITEVQQ2Mus musculus, Rattus norvegicus
V38RNFKIVTEVQQ1Homo sapiens
V38RNFKVISEIQQ1Bos taurus
V41KIVTEVQQDGQ1Homo sapiens
V41KVISEIQQDGQ1Bos taurus
V41KIITEVQQDGQ1Mus musculus
V41KIITEVQQDGE1Rattus norvegicus
V84KFKATVKMEGG2Mus musculus, Rattus norvegicus
V84TFKATVQMEGG1Homo sapiens
V84KFKVTVKMEGG1Bos taurus
V93GGKLVVNFPNY1Homo sapiens
V93GGKVVVDSANY1Bos taurus
V93GGKVVAEFPNY1Mus musculus
V93GGKVVADFPNY1Rattus norvegicus
W50GQDFTWSQHYS1Homo sapiens
W50GQNFTWSQHYP1Bos taurus
W50GQDFTWSQSYS1Mus musculus
W50GENFTWSQSYS1Rattus norvegicus
Y120IGDVTYERVSK2Mus musculus, Rattus norvegicus
Y120IGGVTYERVSK1Homo sapiens
Y120FGGVIYERVSK1Bos taurus
Y15ESEKNYDEFMK4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
Y54TWSQSYSGGNI2Mus musculus, Rattus norvegicus
Y54TWSQHYSGGHT1Homo sapiens
Y54TWSQHYPGGHS1Bos taurus
Y98VNFPNYHQTSE1Homo sapiens
Y98VDSANYHHTVE1Bos taurus
Y98AEFPNYHQTSE1Mus musculus
Y98ADFPNYHQTSE1Rattus norvegicus


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