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 ECE1

Gene summary

Basic gene Info.	Gene symbol	ECE1
	Gene name	endothelin converting enzyme 1
	Synonyms	ECE
	Cytomap	UCSC genome browser: 1p36.1
	Type of gene	protein-coding
	RefGenes	NM_001113347.1, NM_001113348.1,NM_001113349.1,NM_001397.2,
	Description	ECE-1endothelin-converting enzyme 1
	Modification date	20141219
dbXrefs	MIM : 600423
	HGNC : HGNC
	Ensembl : ENSG00000117298
	HPRD : 02690
	Vega : OTTHUMG00000002625
Protein	UniProt: P42892 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_ECE1
	BioGPS: 1889
Pathway	NCI Pathway Interaction Database: ECE1
	KEGG: ECE1
	REACTOME: ECE1
	Pathway Commons: ECE1
Context	iHOP: ECE1
	ligand binding site mutation search in PubMed: ECE1
	UCL Cancer Institute: ECE1
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:0010814	substance P catabolic process	18039931
GO:0010815	bradykinin catabolic process	18039931
GO:0010816	calcitonin catabolic process	18039931
GO:0016485	protein processing	7805846
GO:0016486	peptide hormone processing	7864876
GO:0034959	endothelin maturation	7805846
GO:0042447	hormone catabolic process	7864876

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Ligand binding site mutations for ECE1

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
P731	P731H	LUAD	1
R738	R736C	SKCM	1
E667	E667K	SKCM	1
V604	V605A	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 ECE1

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
P731	P731H	-1.2703462
E667	E667K	-1.2073839
R738	R736C	-0.86539784
V604	V605A	-0.71347207

(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 ECE1 from PDB

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Differential gene expression and gene-gene network for ECE1

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 ECE1 and the right PPI network was created from samples without mutations in the LBS of ECE1. 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 ECE1

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0020538	Hypertension	7	Biomarker, GeneticVariation
umls:C0018798	Heart Defects, Congenital	2	Biomarker
umls:C0019569	Hirschsprung Disease	2	Biomarker
umls:C3151237	Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction	1	GeneticVariation
umls:C0085580	Hypertension, Essential	1	Biomarker
umls:C1145628	Autonomic Nervous System Diseases	1	Biomarker
umls:C0376634	Craniofacial Abnormalities	1	Biomarker
umls:C0011860	Diabetes Mellitus, Type 2	1	Biomarker

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for ECE1

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	DB07171	5-(2-hydroxyethyl)nonane-1,9-diol	Small molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ECE1 go to BioLip

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
ZN		ZINC(2+)	3dwb	A	E667
RDF		PHOSPHORAMIDON	3dwb	A	V604 E667 P731 R738

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Conservation information for LBS of ECE1

Multiple alignments for P42892 in multiple species

LBS

AA sequence

# species

Species