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 BCAT1
Gene summary
Basic gene Info.Gene symbolBCAT1
Gene namebranched chain amino-acid transaminase 1, cytosolic
SynonymsBCATC|BCT1|ECA39|MECA39|PNAS121|PP18
CytomapUCSC genome browser: 12p12.1
Type of geneprotein-coding
RefGenesNM_001178091.1,
NM_001178092.1,NM_001178093.1,NM_001178094.1,NM_005504.6,
Descriptionbranched chain aminotransferase 1, cytosolicbranched-chain-amino-acid aminotransferase, cytosolicplacental protein 18
Modification date20141207
dbXrefs MIM : 113520
HGNC : HGNC
Ensembl : ENSG00000060982
HPRD : 00216
Vega : OTTHUMG00000169053
ProteinUniProt: P54687
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_BCAT1
BioGPS: 586
PathwayNCI Pathway Interaction Database: BCAT1
KEGG: BCAT1
REACTOME: BCAT1
Pathway Commons: BCAT1
ContextiHOP: BCAT1
ligand binding site mutation search in PubMed: BCAT1
UCL Cancer Institute: BCAT1
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 BCAT1
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
K222K222NCOAD1
Q243G241WLUSC1
C335C335RLUSC1
Y193S195LSKCM1
R163R163CSKCM1
N262N262HSTAD1
V175K176RSTAD1
R163R163CUCEC1
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 BCAT1
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
K222K222N-1.4935434
R163R163C-1.2789723
C335C335R-1.0391648
N262N262H-0.66128074
Q243G241W-0.61377337
Y193S195L-0.46108521
V175K176R-0.20728142
(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 BCAT1 from PDB

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Differential gene expression and gene-gene network for BCAT1
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 BCAT1 and the right PPI network was created from samples without mutations in the LBS of BCAT1. 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 BCAT1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0017661Glomerulonephritis, IGA1Biomarker
umls:C0043094Weight Gain1Biomarker

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

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Pharmacological information for BCAT1
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
NutraceuticalDB00114Pyridoxal PhosphateSmall molecule
NutraceuticalDB00142L-Glutamic AcidSmall molecule
Approved|nutraceuticalDB00149L-LeucineSmall molecule
Approved|nutraceuticalDB00161L-ValineSmall molecule
Approved|nutraceuticalDB00167L-IsoleucineSmall molecule
ExperimentalDB07544N'-(5-CHLOROBENZOFURAN-2-CARBONYL)-2-(TRIFLUOROMETHYL)BENZENESULFONOHYDRAZIDESmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of BCAT1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
PLPPYRIDOXAL 5'-PHOSPHATE2cogAK222 N262
PLPPYRIDOXAL 5'-PHOSPHATE2cogBK222 N262
PLPPYRIDOXAL 5'-PHOSPHATE2coiAK222 N262
PLPPYRIDOXAL 5'-PHOSPHATE2coiBK222 N262
PLPPYRIDOXAL 5'-PHOSPHATE2cojAK222 N262
PLPPYRIDOXAL 5'-PHOSPHATE2cojBK222 N262
GBNGABAPENTIN2cojBR163
4MV4-METHYL VALERIC ACID2cogAR163 Y193
GBNGABAPENTIN2coiAR163 Y193
GBNGABAPENTIN2coiBR163 Y193
GBNGABAPENTIN2cojAR163 Y193
4MV4-METHYL VALERIC ACID2cogAV175
4MV4-METHYL VALERIC ACID2cogBV175
GBNGABAPENTIN2coiAV175
GBNGABAPENTIN2coiBV175
GBNGABAPENTIN2cojAV175
GBNGABAPENTIN2cojBV175
4MV4-METHYL VALERIC ACID2cogBY193


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Conservation information for LBS of BCAT1
Multiple alignments for P54687 in multiple species
LBSAA sequence# speciesSpecies
A334FGSGTACVVCP2Homo sapiens, Rattus norvegicus
A334FCTGTAVVLSP1Arabidopsis thaliana
A334FCTGTAVVVSP1Arabidopsis thaliana
A334FGSGTAAIVSP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A334FGSGTACVVSP1Caenorhabditis elegans
C335GSGTACVVCPV2Homo sapiens, Rattus norvegicus
C335CTGTAVVLSPV1Arabidopsis thaliana
C335CTGTAVVVSPV1Arabidopsis thaliana
C335GSGTAAIVSPI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C335GSGTACVVSPV1Caenorhabditis elegans
C338TACVVCPVSDI1Homo sapiens
C338TAVVLSPVGSI1Arabidopsis thaliana
C338TAVVVSPVGSV1Arabidopsis thaliana
C338TAAIVSPIKEI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C338TACVVSPVGKI1Caenorhabditis elegans
C338TACVVCPVASI1Rattus norvegicus
E257KRYLEEVSSCN2Arabidopsis thaliana, Arabidopsis thaliana
E257HQ-ITEVGTMN1Homo sapiens
E257NN-ITEVGTMN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E257ED-LTEVGTMN1Caenorhabditis elegans
E257NR-ITEVGTMN1Rattus norvegicus
F49PNNLVFGTVFT1Homo sapiens
F49WDKIDFGLKPT1Arabidopsis thaliana
F49WDTVGFGLKPA1Arabidopsis thaliana
F49NSELVFGKSFT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F49PTKLKFGHTYA1Caenorhabditis elegans
F49PSSLVFGASFT1Rattus norvegicus
F95YAVELFEGLKA2Homo sapiens, Rattus norvegicus
F95YGQGLFEGLKA2Arabidopsis thaliana, Arabidopsis thaliana
F95YAFELFEGMKA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F95YASELFEGMKA1Caenorhabditis elegans
G288GTILPGITRKS2Arabidopsis thaliana, Arabidopsis thaliana
G288GIILPGVTRRC1Homo sapiens
G288GTILEGVTRDS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G288GLILPGVTRDS1Caenorhabditis elegans
G288GVILPGVTRQS1Rattus norvegicus
G332EMFGSGTACVV3Homo sapiens, Caenorhabditis elegans, Rattus norvegicus
G332EVFCTGTAVVL1Arabidopsis thaliana
G332EVFCTGTAVVV1Arabidopsis thaliana
G332EAFGSGTAAIV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K222GTGGVKTIGNY2Arabidopsis thaliana, Arabidopsis thaliana
K222GTGDCKMGGNY1Homo sapiens
K222GCGDKKLGANY1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K222GVGAYKMGCNY1Caenorhabditis elegans
K222GTGDFKMGCNY1Rattus norvegicus
L173GTGAVLGLAPA2Arabidopsis thaliana, Arabidopsis thaliana
L173GTEPSLGVKKP1Homo sapiens
L173GTTAGLGVSTP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L173GTDPTLGVGCA1Caenorhabditis elegans
L173GIEPSLGVKKP1Rattus norvegicus
L286K-GTILPGITR2Arabidopsis thaliana, Arabidopsis thaliana
L286D-GIILPGVTR1Homo sapiens
L286D-GTILEGVTR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L286HRGLILPGVTR1Caenorhabditis elegans
L286D-GVILPGVTR1Rattus norvegicus
M261TEVGTMN-LFL2Homo sapiens, Rattus norvegicus
M261EEVSSCN-IFI2Arabidopsis thaliana, Arabidopsis thaliana
M261TEVGTMNAFFV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M261TEVGTMN-IFL1Caenorhabditis elegans
N262EVGTMN-LFLY2Homo sapiens, Rattus norvegicus
N262EVSSCN-IFIV2Arabidopsis thaliana, Arabidopsis thaliana
N262EVGTMNAFFVF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N262EVGTMN-IFLF1Caenorhabditis elegans
Q243KAKGYSDVLYL2Arabidopsis thaliana, Arabidopsis thaliana
Q243VDNGCQQVLWL1Homo sapiens
Q243ASRGYQQNLWL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q243ASKNCQQVLWL1Caenorhabditis elegans
Q243AENGCHQVLWL1Rattus norvegicus
Q244AKGYSDVLYLD2Arabidopsis thaliana, Arabidopsis thaliana
Q244DNGCQQVLWLY1Homo sapiens
Q244SRGYQQNLWLF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q244SKNCQQVLWLY1Caenorhabditis elegans
Q244ENGCHQVLWLY1Rattus norvegicus
R119NLNMDRMYRSA1Homo sapiens
R119EENAIRMRNGA1Arabidopsis thaliana
R119EENAKRMRNGA1Arabidopsis thaliana
R119DMNMKRMNKSA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R119EMNMARMKRTA1Caenorhabditis elegans
R119DLNMKRMCRSA1Rattus norvegicus
R163ASLYIRPTFIG2Homo sapiens, Rattus norvegicus
R163GSLYIRPLLMG1Arabidopsis thaliana
R163GSLYVRPLLMG1Arabidopsis thaliana
R163YSLYIRPTLIG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R163CSLYLRPTLIG1Caenorhabditis elegans
R212NPKYVRAWKGG1Homo sapiens
R212ETEFHRATPGG1Arabidopsis thaliana
R212ENEFHRATPGG1Arabidopsis thaliana
R212TDYATRAWPGG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R212DSRFIRAFPGG1Caenorhabditis elegans
R212NPKFVRSWKGG1Rattus norvegicus
T260ITEVGTMN-LF2Homo sapiens, Rattus norvegicus
T260LEEVSSCN-IF2Arabidopsis thaliana, Arabidopsis thaliana
T260ITEVGTMNAFF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T260LTEVGTMN-IF1Caenorhabditis elegans
T290ILPGVTRRCIL1Homo sapiens
T290ILPGITRKSII1Arabidopsis thaliana
T290ILPGITRKSMI1Arabidopsis thaliana
T290ILEGVTRDSIL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T290ILPGVTRDSLL1Caenorhabditis elegans
T290ILPGVTRQSIL1Rattus norvegicus
T333MFGSGTACVVC2Homo sapiens, Rattus norvegicus
T333VFCTGTAVVLS1Arabidopsis thaliana
T333VFCTGTAVVVS1Arabidopsis thaliana
T333AFGSGTAAIVS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T333MFGSGTACVVS1Caenorhabditis elegans
V175GAVLGLAPAPE2Arabidopsis thaliana, Arabidopsis thaliana
V175EPSLGVKKPTK1Homo sapiens
V175TAGLGVSTPDR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V175DPTLGVGCATE1Caenorhabditis elegans
V175EPSLGVKKPSK1Rattus norvegicus
V289IILPGVTRRCI1Homo sapiens
V289TILPGITRKSI1Arabidopsis thaliana
V289TILPGITRKSM1Arabidopsis thaliana
V289TILEGVTRDSI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V289LILPGVTRDSL1Caenorhabditis elegans
V289VILPGVTRQSI1Rattus norvegicus
Y161TSASLYIRPTF2Homo sapiens, Rattus norvegicus
Y161GKGSLYIRPLL1Arabidopsis thaliana
Y161GKGSLYVRPLL1Arabidopsis thaliana
Y161KGYSLYIRPTL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y161DVCSLYLRPTL1Caenorhabditis elegans
Y193SPVGNYFKEG-2Arabidopsis thaliana, Arabidopsis thaliana
Y193SPVGPYFSSGT1Homo sapiens
Y193CPVGPYYKTG-1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y193GPVGAYYSTG-1Caenorhabditis elegans
Y193SPVGSYFSNGT1Rattus norvegicus
Y227KTIGNYAAVLK2Arabidopsis thaliana, Arabidopsis thaliana
Y227KMGGNYGSSLF1Homo sapiens
Y227KLGANYAPCVL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y227KMGCNYAPTIW1Caenorhabditis elegans
Y227KMGCNYGSSLL1Rattus norvegicus
Y90AGVLNYGQGLF2Arabidopsis thaliana, Arabidopsis thaliana
Y90SSALHYAVELF1Homo sapiens
Y90AVVFHYAFELF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y90AKVLHYASELF1Caenorhabditis elegans
Y90ASVLHYAVELF1Rattus norvegicus


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