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 ABL2

Gene summary

Basic gene Info.	Gene symbol	ABL2
	Gene name	ABL proto-oncogene 2, non-receptor tyrosine kinase
	Synonyms	ABLL\|ARG
	Cytomap	UCSC genome browser: 1q25.2
	Type of gene	protein-coding
	RefGenes	NM_001136000.2, NM_001136001.1,NM_001168236.1,NM_001168237.1,NM_001168238.1, NM_001168239.1,NM_005158.4,NM_007314.3,
	Description	Abelson tyrosine-protein kinase 2abelson-related gene proteinc-abl oncogene 2, non-receptor tyrosine kinasetyrosine-protein kinase ARGv-abl Abelson murine leukemia viral oncogene homolog 2
	Modification date	20141207
dbXrefs	MIM : 164690
	HGNC : HGNC
	Ensembl : ENSG00000143322
	HPRD : 01259
	Vega : OTTHUMG00000035199
Protein	UniProt: P42684 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_ABL2
	BioGPS: 27
Pathway	NCI Pathway Interaction Database: ABL2
	KEGG: ABL2
	REACTOME: ABL2
	Pathway Commons: ABL2
Context	iHOP: ABL2
	ligand binding site mutation search in PubMed: ABL2
	UCL Cancer Institute: ABL2
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
GO:0018108	peptidyl-tyrosine phosphorylation	15886098
GO:0051353	positive regulation of oxidoreductase activity	12893824

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Ligand binding site mutations for ABL2

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
A527	R529M	COAD	1
A445	A443T	GBM	1
E508	E508K	HNSC	1
Y299	G300R	KIRC	1
E508	Q506H	LUAD	1
A315	V314G	LUAD	1
Q298	Q298L	LUAD	1
Y299	Y299C	LUSC	1
A426	V425M	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 ABL2

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
A315	V314G	-1.2474726
E508	Q506H	-1.0404715
E508	E508K	-0.63556111
A426	V425M	-0.59366646
A527	R529M	-0.48111133
Q298	Q298L	-0.30900733
Y299	Y299C	-0.22882239
Y299	G300R	-0.011947312
A445	A443T	-0.006237862

(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 ABL2 from PDB

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Differential gene expression and gene-gene network for ABL2

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 ABL2 and the right PPI network was created from samples without mutations in the LBS of ABL2. 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 ABL2

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 ABL2

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
Approved\|nutraceutical	DB00171	Adenosine triphosphate	Small molecule
Approved\|investigational	DB01254	Dasatinib	Small molecule
Investigational	DB05184	XL228	Small molecule
Experimental	DB07664	5-AMINO-3-{[4-(AMINOSULFONYL)PHENYL]AMINO}-N-(2,6-DIFLUOROPHENYL)-1H-1,2,4-TRIAZOLE-1-CARBOTHIOAMIDE	Small molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ABL2 go to BioLip

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
VX6		CYCLOPROPANECARBOXYLIC ACID {4-[4-(4-METHYL-PIPERAZIN-1-YL)-6-(5-METHYL-2H-PYRAZOL-3-YLAMINO)-PYRIMIDIN-2-YLSULFANYL]-PHENYL}-AMIDE	2xyn	C	A445
VX6		CYCLOPROPANECARBOXYLIC ACID {4-[4-(4-METHYL-PIPERAZIN-1-YL)-6-(5-METHYL-2H-PYRAZOL-3-YLAMINO)-PYRIMIDIN-2-YLSULFANYL]-PHENYL}-AMIDE	2xyn	B	A527
STI		IMATINIB	3gvu	A	E508
DKI		CDK1/2 INHIBITOR III	3hmi	A	Q298 Y299 A426
VX6		CYCLOPROPANECARBOXYLIC ACID {4-[4-(4-METHYL-PIPERAZIN-1-YL)-6-(5-METHYL-2H-PYRAZOL-3-YLAMINO)-PYRIMIDIN-2-YLSULFANYL]-PHENYL}-AMIDE	2xyn	A	Y299 A315
VX6		CYCLOPROPANECARBOXYLIC ACID {4-[4-(4-METHYL-PIPERAZIN-1-YL)-6-(5-METHYL-2H-PYRAZOL-3-YLAMINO)-PYRIMIDIN-2-YLSULFANYL]-PHENYL}-AMIDE	2xyn	B	Y299 A315
VX6		CYCLOPROPANECARBOXYLIC ACID {4-[4-(4-METHYL-PIPERAZIN-1-YL)-6-(5-METHYL-2H-PYRAZOL-3-YLAMINO)-PYRIMIDIN-2-YLSULFANYL]-PHENYL}-AMIDE	2xyn	C	Y299 A315
STI		IMATINIB	3gvu	A	Y299 A315 A426

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Conservation information for LBS of ABL2

Multiple alignments for P42684 in multiple species

LBS

AA sequence

# species

Species