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 ABLIM2

Gene summary

Basic gene Info.	Gene symbol	ABLIM2
	Gene name	actin binding LIM protein family, member 2
	Synonyms	-
	Cytomap	UCSC genome browser: 4p16.1
	Type of gene	protein-coding
	RefGenes	NM_001130083.1, NM_001130084.1,NM_001130085.1,NM_001130086.1,NM_001130087.1, NM_001130088.1,NM_001286688.1,NM_032432.4,
	Description	abLIM-2actin binding LIM protein 2actin-binding LIM protein 2actin-binding LIM protein family member 2
	Modification date	20141207
dbXrefs	MIM : 612544
	HGNC : HGNC
	Ensembl : ENSG00000163995
	Vega : OTTHUMG00000057427
Protein	UniProt: Q6H8Q1 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_ABLIM2
	BioGPS: 84448
Pathway	NCI Pathway Interaction Database: ABLIM2
	KEGG: ABLIM2
	REACTOME: ABLIM2
	Pathway Commons: ABLIM2
Context	iHOP: ABLIM2
	ligand binding site mutation search in PubMed: ABLIM2
	UCL Cancer Institute: ABLIM2
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 ABLIM2

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
C131	M130L	LUSC	1
H103	P104L	SKCM	1
C86	D87A	STAD	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 ABLIM2

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
C86	D87A	-1.15768
H103	P104L	-0.74143789
C131	M130L	-0.52504974

(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 ABLIM2 from PDB

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Differential gene expression and gene-gene network for ABLIM2

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 ABLIM2 and the right PPI network was created from samples without mutations in the LBS of ABLIM2. 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 ABLIM2

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