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 ALOX12

Gene summary

Basic gene Info.	Gene symbol	ALOX12
	Gene name	arachidonate 12-lipoxygenase
	Synonyms	12-LOX\|12S-LOX\|LOG12
	Cytomap	UCSC genome browser: 17p13.1
	Type of gene	protein-coding
	RefGenes	NM_000697.2,
	Description	12(S)-lipoxygenase12S-lipoxygenasearachidonate 12-lipoxygenase, 12S-typelipoxin synthase 12-LOplatelet 12-LOXplatelet-type 12-lipoxygenaseplatelet-type lipoxygenase 12
	Modification date	20141211
dbXrefs	MIM : 152391
	HGNC : HGNC
	Ensembl : ENSG00000108839
	HPRD : 01066
	Vega : OTTHUMG00000102088
Protein	UniProt: P18054 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_ALOX12
	BioGPS: 239
Pathway	NCI Pathway Interaction Database: ALOX12
	KEGG: ALOX12
	REACTOME: ALOX12
	Pathway Commons: ALOX12
Context	iHOP: ALOX12
	ligand binding site mutation search in PubMed: ALOX12
	UCL Cancer Institute: ALOX12
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:0019369	arachidonic acid metabolic process	1851637
GO:0019372	lipoxygenase pathway	8319693
GO:0043651	linoleic acid metabolic process	8319693
GO:0043651	linoleic acid metabolic process	1851637
GO:1901751	leukotriene A4 metabolic process	8250832
GO:1901751	leukotriene A4 metabolic process	1851637
GO:2001303	lipoxin A4 biosynthetic process	8250832
GO:2001306	lipoxin B4 biosynthetic process	8250832

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Ligand binding site mutations for ALOX12

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
H365	T364I	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 ALOX12

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
H365	T364I	-0.5763844

(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 ALOX12 from PDB

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Differential gene expression and gene-gene network for ALOX12

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 ALOX12 and the right PPI network was created from samples without mutations in the LBS of ALOX12. 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 ALOX12

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0006435	Burns, Chemical	1	Biomarker
umls:C0020429	Hyperalgesia	1	Biomarker
umls:C0031117	Peripheral Nervous System Diseases	1	Biomarker
umls:C0037274	Skin Diseases	1	Biomarker

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for ALOX12

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.