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 FABP4
Gene summary
Basic gene Info.Gene symbolFABP4
Gene namefatty acid binding protein 4, adipocyte
SynonymsA-FABP|AFABP|ALBP|HEL-S-104|aP2
CytomapUCSC genome browser: 8q21
Type of geneprotein-coding
RefGenesNM_001442.2,
Descriptionadipocyte lipid-binding proteinadipocyte-type fatty acid-binding proteinepididymis secretory protein Li 104fatty acid-binding protein 4fatty acid-binding protein, adipocyte
Modification date20141222
dbXrefs MIM : 600434
HGNC : HGNC
Ensembl : ENSG00000170323
HPRD : 02698
Vega : OTTHUMG00000164602
ProteinUniProt: P15090
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_FABP4
BioGPS: 2167
PathwayNCI Pathway Interaction Database: FABP4
KEGG: FABP4
REACTOME: FABP4
Pathway Commons: FABP4
ContextiHOP: FABP4
ligand binding site mutation search in PubMed: FABP4
UCL Cancer Institute: FABP4
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


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Ligand binding site mutations for FABP4
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
A76A76SBRCA1
A37A37TCOAD1
V24E23GCOAD1
R127T126MHNSC1
V26G27RHNSC1
C118V119IOV1
P39M41ISKCM1
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 FABP4
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
V24E23G-1.4616847
C118V119I-1.190879
A76A76S-0.82795421
P39M41I-0.78701345
R127T126M-0.70306413
A37A37T-0.46171591
V26G27R-0.041105326
(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 FABP4 from PDB

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Differential gene expression and gene-gene network for FABP4
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 FABP4 and the right PPI network was created from samples without mutations in the LBS of FABP4. 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 FABP4
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0007097Carcinoma2AlteredExpression, Biomarker
umls:C0024667Mammary Neoplasms, Animal1Biomarker
umls:C0024668Mammary Neoplasms, Experimental1Biomarker

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

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Pharmacological information for FABP4
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

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of FABP4 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of FABP4
Multiple alignments for P15090 in multiple species
LBSAA sequence# speciesSpecies
A34ATRKVAGMAKP3Homo sapiens, Bos taurus, Mus musculus
A34ITRKAAAHLKP1Caenorhabditis elegans
A34ITRKAAANLKP1Caenorhabditis elegans
A34LLRKAACAAKP1Caenorhabditis elegans
A37KVAGMAKPNMI2Homo sapiens, Mus musculus
A37KVAGMAKPTLI1Bos taurus
A37KAAAHLKPILE1Caenorhabditis elegans
A37KAAANLKPTLE1Caenorhabditis elegans
A37KAACAAKPTLE1Caenorhabditis elegans
A76FDEVTADDRKV1Homo sapiens
A76FDEITPDDRKV1Bos taurus
A76FDEITADDRKV1Mus musculus
A76FVENSPDDRTY1Caenorhabditis elegans
A76FDETTPDGRTV1Caenorhabditis elegans
A76FDETTPDGRQF1Caenorhabditis elegans
C118KLVVECVMKGV2Homo sapiens, Mus musculus
C118KMVLECVMNGV1Bos taurus
C118KLIQTYQSGDV1Caenorhabditis elegans
C118KLITTLESGSV1Caenorhabditis elegans
C118KLITTLQSGSV1Caenorhabditis elegans
D77DEVTADDRKVK1Homo sapiens
D77DEITPDDRKVK1Bos taurus
D77DEITADDRKVK1Mus musculus
D77VENSPDDRTYN1Caenorhabditis elegans
D77DETTPDGRTVK1Caenorhabditis elegans
D77DETTPDGRQFK1Caenorhabditis elegans
F17VSSENFDDYMK3Homo sapiens, Bos taurus, Mus musculus
F17VQTENFDEYMK1Caenorhabditis elegans
F17IHSENFEEYMK1Caenorhabditis elegans
F17VESENFEDYLK1Caenorhabditis elegans
F58KSESTFKNTEI2Homo sapiens, Bos taurus
F58RSESTFKNTEI1Mus musculus
F58DQFSTFKNTKL1Caenorhabditis elegans
F58NQYSTFKNTTL1Caenorhabditis elegans
F58NQLSTFKNTTL1Caenorhabditis elegans
I105GKSTTIKRKRE1Homo sapiens
I105GKSTTIKRKLM1Bos taurus
I105GKSTTIKRKRD1Mus musculus
I105HKSSVLTTWLE1Caenorhabditis elegans
I105DKESIITRWLE1Caenorhabditis elegans
I105DHDSVITRWFE1Caenorhabditis elegans
I52GDVITIKSEST1Homo sapiens
I52GGVVTIKSEST1Bos taurus
I52GDLVTIRSEST1Mus musculus
I52GETWNFDQFST1Caenorhabditis elegans
I52GDLWYSNQYST1Caenorhabditis elegans
I52GNKWHVNQLST1Caenorhabditis elegans
I63FKNTEISFKLG2Bos taurus, Mus musculus
I63FKNTEISFILG1Homo sapiens
I63FKNTKLSFKLG1Caenorhabditis elegans
I63FKNTTLSFKLG1Caenorhabditis elegans
I63FKNTTLEFTLG1Caenorhabditis elegans
K59SESTFKNTEIS3Homo sapiens, Bos taurus, Mus musculus
K59QFSTFKNTKLS1Caenorhabditis elegans
K59QYSTFKNTTLS1Caenorhabditis elegans
K59QLSTFKNTTLE1Caenorhabditis elegans
M21NFDDYMKEVGV3Homo sapiens, Bos taurus, Mus musculus
M21NFDEYMKEIGV1Caenorhabditis elegans
M21NFEEYMKEVGV1Caenorhabditis elegans
M21NFEDYLKEVGV1Caenorhabditis elegans
P39AGMAKPNMIIS2Homo sapiens, Mus musculus
P39AGMAKPTLIIS1Bos taurus
P39AAHLKPILEIR1Caenorhabditis elegans
P39AANLKPTLEIK1Caenorhabditis elegans
P39ACAAKPTLEIK1Caenorhabditis elegans
R107STTIKRKREDD1Homo sapiens
R107STTIKRKLMDD1Bos taurus
R107STTIKRKRDGD1Mus musculus
R107SSVLTTWLENG1Caenorhabditis elegans
R107ESIITRWLEGD1Caenorhabditis elegans
R107DSVITRWFEGE1Caenorhabditis elegans
R127GVTSTRVYERA2Homo sapiens, Mus musculus
R127GVTATRVYERA1Bos taurus
R127DVICRREWERE1Caenorhabditis elegans
R127SVVSRREYVRE1Caenorhabditis elegans
R127SVISRRAYIRE1Caenorhabditis elegans
R79VTADDRKVKST1Homo sapiens
R79ITPDDRKVKSI1Bos taurus
R79ITADDRKVKSI1Mus musculus
R79NSPDDRTYNSL1Caenorhabditis elegans
R79TTPDGRTVKSV1Caenorhabditis elegans
R79TTPDGRQFKST1Caenorhabditis elegans
S54VITIKSESTFK1Homo sapiens
S54VVTIKSESTFK1Bos taurus
S54LVTIRSESTFK1Mus musculus
S54TWNFDQFSTFK1Caenorhabditis elegans
S54LWYSNQYSTFK1Caenorhabditis elegans
S54KWHVNQLSTFK1Caenorhabditis elegans
S56TIKSESTFKNT2Homo sapiens, Bos taurus
S56TIRSESTFKNT1Mus musculus
S56NFDQFSTFKNT1Caenorhabditis elegans
S56YSNQYSTFKNT1Caenorhabditis elegans
S56HVNQLSTFKNT1Caenorhabditis elegans
T61STFKNTEISFK2Bos taurus, Mus musculus
T61STFKNTEISFI1Homo sapiens
T61STFKNTKLSFK1Caenorhabditis elegans
T61STFKNTTLSFK1Caenorhabditis elegans
T61STFKNTTLEFT1Caenorhabditis elegans
V116DDKLVVECVMK1Homo sapiens
V116DDKMVLECVMN1Bos taurus
V116GDKLVVECVMK1Mus musculus
V116NGKLIQTYQSG1Caenorhabditis elegans
V116GDKLITTLESG1Caenorhabditis elegans
V116GEKLITTLQSG1Caenorhabditis elegans
V24DYMKEVGVGFA3Homo sapiens, Bos taurus, Mus musculus
V24EYMKEIGVGLI1Caenorhabditis elegans
V24EYMKEVGVGLI1Caenorhabditis elegans
V24DYLKEVGVGLL1Caenorhabditis elegans
V26MKEVGVGFATR3Homo sapiens, Bos taurus, Mus musculus
V26MKEIGVGLITR1Caenorhabditis elegans
V26MKEVGVGLITR1Caenorhabditis elegans
V26LKEVGVGLLLR1Caenorhabditis elegans
Y129TSTRVYERA2Homo sapiens, Mus musculus
Y129TATRVYERA1Bos taurus
Y129ICRREWERE1Caenorhabditis elegans
Y129VSRREYVRE1Caenorhabditis elegans
Y129ISRRAYIRE1Caenorhabditis elegans
Y20ENFDDYMKEVG3Homo sapiens, Bos taurus, Mus musculus
Y20ENFDEYMKEIG1Caenorhabditis elegans
Y20ENFEEYMKEVG1Caenorhabditis elegans
Y20ENFEDYLKEVG1Caenorhabditis elegans


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