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 MCAT
Gene summary
Basic gene Info.Gene symbolMCAT
Gene namemalonyl CoA:ACP acyltransferase (mitochondrial)
SynonymsFASN2C|MCT|MT|NET62|fabD
CytomapUCSC genome browser: 22q13.31
Type of geneprotein-coding
RefGenesNM_014507.3,
NM_173467.4,NR_046423.1,
Description[Acyl-carrier-protein] malonyltransferasemalonyl-CoA-acyl carrier protein transacylase, mitochondrialmalonyl-CoA:acyl carrier protein transacylase, mitochondrialmitochondrial malonyl CoA:ACP acyltransferasemitochondrial malonyltransferase
Modification date20141207
dbXrefs MIM : 614479
HGNC : HGNC
Ensembl : ENSG00000100294
HPRD : 14786
Vega : OTTHUMG00000150704
ProteinUniProt: Q8IVS2
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_MCAT
BioGPS: 27349
PathwayNCI Pathway Interaction Database: MCAT
KEGG: MCAT
REACTOME: MCAT
Pathway Commons: MCAT
ContextiHOP: MCAT
ligand binding site mutation search in PubMed: MCAT
UCL Cancer Institute: MCAT
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
GO:0006633fatty acid biosynthetic process12882974
GO:0008152metabolic process12882974


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Ligand binding site mutations for MCAT
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
Y230S228CLUSC1
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 MCAT
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
Y230S228C-0.20922811
(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 MCAT from PDB

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Differential gene expression and gene-gene network for MCAT
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 MCAT and the right PPI network was created from samples without mutations in the LBS of MCAT. 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 MCAT
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 MCAT
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
ExperimentalDB073443,6,9,12,15-PENTAOXAHEPTADECAN-1-OLSmall molecule

Gene-centered ligand-gene interaction network

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


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Conservation information for LBS of MCAT
Multiple alignments for Q8IVS2 in multiple species
LBSAA sequence# speciesSpecies
E327SPVKWEQTMHA1Homo sapiens
E327SPVKWEQTMHS1Mus musculus
E327RPVKWEQTLHE1Drosophila melanogaster
H331WEQTMHAIYER1Homo sapiens
H331WEQTMHSIYER1Mus musculus
H331WEQTLHEMYER1Drosophila melanogaster
Q328PVKWEQTMHAI1Homo sapiens
Q328PVKWEQTMHSI1Mus musculus
Q328PVKWEQTLHEM1Drosophila melanogaster
Y230CEVSNYLFPDC1Homo sapiens
Y230CQVSNYLFPDC1Mus musculus
Y230CGIANYMYPHC1Drosophila melanogaster


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