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 ACAT2

Gene summary

Basic gene Info.	Gene symbol	ACAT2
	Gene name	acetyl-CoA acetyltransferase 2
	Synonyms	-
	Cytomap	UCSC genome browser: 6q25.3
	Type of gene	protein-coding
	RefGenes	NM_005891.2,
	Description	acetoacetyl Coenzyme A thiolaseacetyl-CoA acetyltransferase, cytosolicacetyl-CoA transferase-like proteincytosolic acetoacetyl-CoA thiolase
	Modification date	20141207
dbXrefs	MIM : 100678
	HGNC : HGNC
	HPRD : 00006
Protein	UniProt: Q9BWD1 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_ACAT2
	BioGPS: 39
Pathway	NCI Pathway Interaction Database: ACAT2
	KEGG: ACAT2
	REACTOME: ACAT2
	Pathway Commons: ACAT2
Context	iHOP: ACAT2
	ligand binding site mutation search in PubMed: ACAT2
	UCL Cancer Institute: ACAT2
Assigned class in mutLBSgeneDB	C: This gene just belongs to 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 ACAT2

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
M160	G161S	COAD	3
M293	I292V	COAD	1
R223	F221C	UCEC	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 ACAT2

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
M293	I292V	-1.703974
R223	F221C	-1.3915434
M160	G161S	-0.82465145

(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 ACAT2 from PDB

PDB ID	PDB title	PDB structure
1WL5	Human cytosolic acetoacetyl-CoA thiolase

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Differential gene expression and gene-gene network for ACAT2

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 ACAT2 and the right PPI network was created from samples without mutations in the LBS of ACAT2. 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 ACAT2

Gene level disease information (DisGeNet)

Disease ID

Disease name

# PubMed

Association type

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for ACAT2

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
Experimental	DB01915	S-Hydroxycysteine	Small molecule
Nutraceutical	DB01992	Coenzyme A	Small molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ACAT2 go to BioLip

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
COA		COENZYME A	1wl4	A	M160 R223 M293

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Conservation information for LBS of ACAT2

Multiple alignments for Q9BWD1 in multiple species

LBS	AA sequence	# species	Species
A249	GTVTPANASGM	2	Mus musculus, Rattus norvegicus
A249	GTVTPANASGI	1	Homo sapiens
A323	FEINEAFAAVS	3	Homo sapiens, Mus musculus, Rattus norvegicus
C92	SCQMICGSGLK	3	Homo sapiens, Mus musculus, Rattus norvegicus
F324	EINEAFAAVSA	3	Homo sapiens, Mus musculus, Rattus norvegicus
G253	PANASGMNDGA	2	Mus musculus, Rattus norvegicus
G253	PANASGINDGA	1	Homo sapiens
H159	AFHNYHMGITA	2	Mus musculus, Rattus norvegicus
H159	AFHNCHMGITA	1	Homo sapiens
H353	AIALGHPLGAS	3	Homo sapiens, Mus musculus, Rattus norvegicus
L151	ILCDGLTDAFH	3	Homo sapiens, Mus musculus, Rattus norvegicus
M160	FHNYHMGITAE	2	Mus musculus, Rattus norvegicus
M160	FHNCHMGITAE	1	Homo sapiens
M231	SNIEAMSKLKP	1	Homo sapiens
M231	SNLEAMGKLKP	1	Mus musculus
M231	SNLEAMSKLKP	1	Rattus norvegicus
M293	VEPSVMGVGPI	2	Mus musculus, Rattus norvegicus
M293	VEPSIMGIGPI	1	Homo sapiens
P248	TGTVTPANASG	3	Homo sapiens, Mus musculus, Rattus norvegicus
R223	IDEFPRHGSNL	2	Mus musculus, Rattus norvegicus
R223	TDEFPRHGSNI	1	Homo sapiens
S226	FPRHGSNLEAM	2	Mus musculus, Rattus norvegicus
S226	FPRHGSNIEAM	1	Homo sapiens
S252	TPANASGMNDG	2	Mus musculus, Rattus norvegicus
S252	TPANASGINDG	1	Homo sapiens
Y237	SKLKPYFLTDG	2	Homo sapiens, Rattus norvegicus
Y237	GKLKPYFLTDG	1	Mus musculus