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 ACACB
Gene summary
Basic gene Info.Gene symbolACACB
Gene nameacetyl-CoA carboxylase beta
SynonymsACC2|ACCB|HACC275
CytomapUCSC genome browser: 12q24.11
Type of geneprotein-coding
RefGenesNM_001093.3,
DescriptionACC-betaacetyl-CoA carboxylase 2acetyl-Coenzyme A carboxylase beta
Modification date20141207
dbXrefs MIM : 601557
HGNC : HGNC
Ensembl : ENSG00000076555
HPRD : 07044
Vega : OTTHUMG00000169250
ProteinUniProt: O00763
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ACACB
BioGPS: 32
PathwayNCI Pathway Interaction Database: ACACB
KEGG: ACACB
REACTOME: ACACB
Pathway Commons: ACACB
ContextiHOP: ACACB
ligand binding site mutation search in PubMed: ACACB
UCL Cancer Institute: ACACB
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
GO:0006084acetyl-CoA metabolic process20952656
GO:0051289protein homotetramerization20952656


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Ligand binding site mutations for ACACB
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
F704F704LBLCA1
P590H589NBRCA1
S2161S2161FCOAD1
R277R277HCOAD1
A2125G2126ELUSC1
V598V598IUCEC1
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 ACACB
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
S2161S2161F0.13703425
V598V598I0.10410958
P590H589N-1.6245907
R277R277H-1.0016711
A2125G2126E-0.69152835
F704F704L-0.56450176
(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 ACACB from PDB

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Differential gene expression and gene-gene network for ACACB
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 ACACB and the right PPI network was created from samples without mutations in the LBS of ACACB. 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 ACACB
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0028754Obesity5Biomarker
umls:C0021655Insulin Resistance3Biomarker, GeneticVariation

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

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Pharmacological information for ACACB
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
Approved|nutraceuticalDB00121BiotinSmall molecule
Approved|nutraceuticalDB00173AdenineSmall molecule
ExperimentalDB02859Soraphen ASmall molecule
ExperimentalDB037812-[4-(2,4-Dichlorophenoxy)Phenoxy]Propanoic AcidSmall molecule
ExperimentalDB07870(2S)-2-(4-{[3-CHLORO-5-(TRIFLUOROMETHYL)PYRIDIN-2-YL]OXY}PHENOXY)PROPANOIC ACIDSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ACACB go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
RCP(3R)-1'-(9-ANTHRYLCARBONYL)-3-(MORPHOLIN-4-YLCARBONYL)-1,4'-BIPIPERIDINE3ff6BA2125
S1ASORAPHEN A3gidAR277 P590 V598 F704
S1ASORAPHEN A3gidBR277 P590 V598 F704
S1ASORAPHEN A3jrxAR277 P590 V598 F704
RCP(3R)-1'-(9-ANTHRYLCARBONYL)-3-(MORPHOLIN-4-YLCARBONYL)-1,4'-BIPIPERIDINE3ff6AS2161
RCP(3R)-1'-(9-ANTHRYLCARBONYL)-3-(MORPHOLIN-4-YLCARBONYL)-1,4'-BIPIPERIDINE3ff6CS2161
RCP(3R)-1'-(9-ANTHRYLCARBONYL)-3-(MORPHOLIN-4-YLCARBONYL)-1,4'-BIPIPERIDINE3ff6DS2161


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Conservation information for LBS of ACACB
Multiple alignments for O00763 in multiple species
LBSAA sequence# speciesSpecies


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