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 BCAT2

Gene summary

Basic gene Info.	Gene symbol	BCAT2
	Gene name	branched chain amino-acid transaminase 2, mitochondrial
	Synonyms	BCAM\|BCATM\|BCT2\|PP18
	Cytomap	UCSC genome browser: 19q13
	Type of gene	protein-coding
	RefGenes	NM_001164773.1, NM_001190.3,NM_001284325.1,NR_028451.1,
	Description	branched chain aminotransferase 2, mitochondrialbranched-chain-amino-acid aminotransferase, mitochondrialplacental protein 18
	Modification date	20141207
dbXrefs	MIM : 113530
	HGNC : HGNC
	Ensembl : ENSG00000105552
	HPRD : 00217
	Vega : OTTHUMG00000183327
Protein	UniProt: O15382 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_BCAT2
	BioGPS: 587
Pathway	NCI Pathway Interaction Database: BCAT2
	KEGG: BCAT2
	REACTOME: BCAT2
	Pathway Commons: BCAT2
Context	iHOP: BCAT2
	ligand binding site mutation search in PubMed: BCAT2
	UCL Cancer Institute: BCAT2
Assigned class in mutLBSgeneDB	B: This gene belongs to targetable_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 BCAT2

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

LBS	AAchange of nsSNV	Cancer type	# samples
R219	R219Q	BRCA	1
E264	E264V	LUAD	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 BCAT2

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
E264	E264V	-1.1258857
R219	R219Q	-0.94962731

(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 BCAT2 from PDB

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Differential gene expression and gene-gene network for BCAT2

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 BCAT2 and the right PPI network was created from samples without mutations in the LBS of BCAT2. 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 BCAT2

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0024776	Maple Syrup Urine Disease	1	Biomarker
umls:C0032927	Precancerous Conditions	1	Biomarker

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for BCAT2

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 status	DrugBank ID	Name	Type	Drug structure
Nutraceutical	DB00114	Pyridoxal Phosphate	Small molecule
Nutraceutical	DB00142	L-Glutamic Acid	Small molecule
Approved\|nutraceutical	DB00149	L-Leucine	Small molecule
Approved\|nutraceutical	DB00167	L-Isoleucine	Small molecule
Experimental	DB02142	Pyridoxamine-5'-Phosphate	Small molecule
Experimental	DB02635	N-[O-Phosphono-Pyridoxyl]-Isoleucine	Small molecule
Experimental	DB04074	Alpha-ketoisovalerate	Small molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of BCAT2 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 BCAT2

Multiple alignments for O15382 in multiple species

LBS	AA sequence	# species	Species
A341	FGSGTACQVCP	4	Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
A341	FCTGTAVVVAP	1	Arabidopsis thaliana
A341	FGSGTAAVVSP	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A341	FGAGTAALVSP	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C342	GSGTACQVCPV	4	Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
C342	CTGTAVVVAPV	1	Arabidopsis thaliana
C342	GSGTAAVVSPI	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C342	GAGTAALVSPV	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C345	TACQVCPVHQI	3	Mus musculus, Rattus norvegicus, Bos taurus
C345	TACQVCPVHRI	1	Homo sapiens
C345	TAVVVAPVGTI	1	Arabidopsis thaliana
C345	TAAVVSPIKEI	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C345	TAALVSPVKAI	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E264	DHQLTEVGTMN	3	Homo sapiens, Mus musculus, Rattus norvegicus
E264	KKYLEEASSCN	1	Arabidopsis thaliana
E264	DHELTEVGTMN	1	Bos taurus
E264	EKNITEVGTMN	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E264	EDYITEVGTMN	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F102	YSLQLFEGMKA	2	Homo sapiens, Bos taurus
F102	YSLQLFEGLKA	2	Mus musculus, Rattus norvegicus
F102	YGQAIYEGTKA	1	Arabidopsis thaliana
F102	YAFELFEGLKA	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F102	YGFECFEGMKA	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F57	-QPLLFGKTFT	2	Rattus norvegicus, Bos taurus
F57	-EPLVFGKTFT	1	Homo sapiens
F57	WDNLGFGLNPA	1	Arabidopsis thaliana
F57	-QALLFGKTFT	1	Mus musculus
F57	-EELVFGQTFT	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F57	WKSLKFGENFT	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G104	LQLFEGMKAFK	2	Homo sapiens, Bos taurus
G104	LQLFEGLKAYK	2	Mus musculus, Rattus norvegicus
G104	QAIYEGTKAYR	1	Arabidopsis thaliana
G104	FELFEGLKAYR	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G104	FECFEGMKAFR	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G181	NEPSLGVGMVT	2	Mus musculus, Rattus norvegicus
G181	NEPSLGVSQPT	1	Homo sapiens
G181	SGPILGLGPAP	1	Arabidopsis thaliana
G181	NEPSLGVGHPT	1	Bos taurus
G181	TSKGLGVGTPS	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G181	TDEALGVHHCD	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G266	QLTEVGTMNIF	3	Homo sapiens, Mus musculus, Rattus norvegicus
G266	YLEEASSCNVF	1	Arabidopsis thaliana
G266	ELTEVGTMNIF	1	Bos taurus
G266	NITEVGTMNVF	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G266	YITEVGTMNCF	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G295	GVILPGVVRQS	2	Homo sapiens, Mus musculus
G295	GTILEGITRKS	1	Arabidopsis thaliana
G295	GIILPGVVRQS	1	Rattus norvegicus
G295	GIILPGIVRQS	1	Bos taurus
G295	GTILEGVTRDS	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G295	GMILPGVTRDS	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G337	VREVFGSGTAC	4	Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
G337	-DEVFCTGTAV	1	Arabidopsis thaliana
G337	LLEAFGSGTAA	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G337	LLEVFGAGTAA	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G339	EVFGSGTACQV	4	Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
G339	EVFCTGTAVVV	1	Arabidopsis thaliana
G339	EAFGSGTAAVV	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G339	EVFGAGTAALV	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K229	GVGNYKLGGNY	2	Homo sapiens, Bos taurus
K229	GVGDCKLGGNY	2	Mus musculus, Rattus norvegicus
K229	GAGGVKSITNY	1	Arabidopsis thaliana
K229	GVGDKKLGANY	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K229	GTGHYKLGGNY	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L180	GNEPSLGVGMV	2	Mus musculus, Rattus norvegicus
L180	GNEPSLGVSQP	1	Homo sapiens
L180	GSGPILGLGPA	1	Arabidopsis thaliana
L180	GNEPSLGVGHP	1	Bos taurus
L180	GTSKGLGVGTP	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L180	GTDEALGVHHC	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L293	LNGVILPGVVR	2	Homo sapiens, Mus musculus
L293	TNGTILEGITR	1	Arabidopsis thaliana
L293	LDGIILPGVVR	1	Rattus norvegicus
L293	LDGIILPGIVR	1	Bos taurus
L293	LDGTILEGVTR	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L293	LDGMILPGVTR	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M268	TEVGTMNIFVY	3	Homo sapiens, Mus musculus, Rattus norvegicus
M268	EEASSCNVFVV	1	Arabidopsis thaliana
M268	TEVGTMNIFVF	1	Bos taurus
M268	TEVGTMNVFFV	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M268	TEVGTMNCFTV	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N269	EVGTMNIFVYW	3	Homo sapiens, Mus musculus, Rattus norvegicus
N269	EASSCNVFVV-	1	Arabidopsis thaliana
N269	EVGTMNIFVFW	1	Bos taurus
N269	EVGTMNVFFVF	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N269	EVGTMNCFTVW	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q251	KRGCEQVLWLY	2	Homo sapiens, Mus musculus
Q251	KKGCEQVLWLY	2	Rattus norvegicus, Bos taurus
Q251	SRGFSDVLYLD	1	Arabidopsis thaliana
Q251	KRGYQQNLWLF	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q251	KKGYAQILWLY	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R126	WLNMDRMLRSA	3	Homo sapiens, Mus musculus, Rattus norvegicus
R126	DHNAIRMKLGA	1	Arabidopsis thaliana
R126	WLNMERMLRSA	1	Bos taurus
R126	DKNMARMNKSA	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R126	IKNAERMLSTG	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R170	TSLYVRPVLIG	4	Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
R170	GTLYIRPLLMG	1	Arabidopsis thaliana
R170	YSLYIRPTMIG	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R170	YSLYIRPTFIG	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R219	DPSFVRAWIGG	2	Mus musculus, Rattus norvegicus
R219	DPAFIRAWVGG	1	Homo sapiens
R219	EEEYVRAAPGG	1	Arabidopsis thaliana
R219	DPSFIRAWVGG	1	Bos taurus
R219	TDYATRAWPGG	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R219	SEESVRAWPGG	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T267	LTEVGTMNIFV	4	Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
T267	LEEASSCNVFV	1	Arabidopsis thaliana
T267	ITEVGTMNVFF	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T267	ITEVGTMNCFT	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T340	VFGSGTACQVC	4	Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
T340	VFCTGTAVVVA	1	Arabidopsis thaliana
T340	AFGSGTAAVVS	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T340	VFGAGTAALVS	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V182	EPSLGVGMVTQ	2	Mus musculus, Rattus norvegicus
V182	EPSLGVSQPTR	1	Homo sapiens
V182	GPILGLGPAPE	1	Arabidopsis thaliana
V182	EPSLGVGHPTR	1	Bos taurus
V182	SKGLGVGTPSE	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V182	DEALGVHHCDN	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V209	DSMTPVSLLAD	2	Mus musculus, Rattus norvegicus
V209	GSVTPVSLLAD	1	Homo sapiens
V209	G-MAALNLYVE	1	Arabidopsis thaliana
V209	DALKPVSLLAD	1	Bos taurus
V209	G-FKAVRLEAT	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V209	G-FKAVKLCCS	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V265	HQLTEVGTMNI	3	Homo sapiens, Mus musculus, Rattus norvegicus
V265	KYLEEASSCNV	1	Arabidopsis thaliana
V265	HELTEVGTMNI	1	Bos taurus
V265	KNITEVGTMNV	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V265	DYITEVGTMNC	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V296	VILPGVVRQSL	2	Homo sapiens, Mus musculus
V296	TILEGITRKSV	1	Arabidopsis thaliana
V296	IILPGVVRQSL	1	Rattus norvegicus
V296	IILPGIVRQSL	1	Bos taurus
V296	TILEGVTRDSV	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V296	MILPGVTRDSI	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V297	ILPGVVRQSLL	3	Homo sapiens, Mus musculus, Rattus norvegicus
V297	ILEGITRKSVM	1	Arabidopsis thaliana
V297	ILPGIVRQSLL	1	Bos taurus
V297	ILEGVTRDSVL	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V297	ILPGVTRDSIL	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V347	CQVCPVHQILY	3	Mus musculus, Rattus norvegicus, Bos taurus
V347	CQVCPVHRILY	1	Homo sapiens
V347	VVVAPVGTITY	1	Arabidopsis thaliana
V347	AVVSPIKEIGW	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V347	ALVSPVKAINY	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y168	NGTSLYVRPVL	2	Mus musculus, Rattus norvegicus
Y168	AGTSLYVRPVL	1	Homo sapiens
Y168	GKGTLYIRPLL	1	Arabidopsis thaliana
Y168	MGTSLYVRPVL	1	Bos taurus
Y168	NGYSLYIRPTM	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y168	RGYSLYIRPTF	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y200	CPVGSYFPGDS	2	Mus musculus, Rattus norvegicus
Y200	CPVGAYFPGGS	1	Homo sapiens
Y200	SPVGNYFKEG-	1	Arabidopsis thaliana
Y200	SPVGAYFPGDA	1	Bos taurus
Y200	SPVGPYYKTG-	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y200	SPVGPYYSSG-	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y234	KLGGNYGPTVL	2	Homo sapiens, Bos taurus
Y234	KLGGNYGPTVA	2	Mus musculus, Rattus norvegicus
Y234	KSITNYAPVLK	1	Arabidopsis thaliana
Y234	KLGANYAPCIL	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y234	KLGGNYAPSVL	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y97	CSGLHYSLQLF	2	Mus musculus, Rattus norvegicus
Y97	SSSLHYSLQLF	1	Homo sapiens
Y97	AGVLNYGQAIY	1	Arabidopsis thaliana
Y97	CSALHYSLQLF	1	Bos taurus
Y97	ACVFHYAFELF	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y97	SSVFHYGFECF	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)