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 TMPRSS11E

Gene summary

Basic gene Info.	Gene symbol	TMPRSS11E
	Gene name	transmembrane protease, serine 11E
	Synonyms	DESC1\|TMPRSS11E2
	Cytomap	UCSC genome browser: 4q13.2
	Type of gene	protein-coding
	RefGenes	NM_014058.3,
	Description	serine protease DESC1transmembrane protease serine 11Etransmembrane protease serine 11E2transmembrane protease, serine 11E2
	Modification date	20141207
dbXrefs	MIM : 610399
	HGNC : HGNC
	Ensembl : ENSG00000087128
	HPRD : 09912
	Vega : OTTHUMG00000160438
Protein	UniProt: Q9UL52 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_TMPRSS11E
	BioGPS: 28983
Pathway	NCI Pathway Interaction Database: TMPRSS11E
	KEGG: TMPRSS11E
	REACTOME: TMPRSS11E
	Pathway Commons: TMPRSS11E
Context	iHOP: TMPRSS11E
	ligand binding site mutation search in PubMed: TMPRSS11E
	UCL Cancer Institute: TMPRSS11E
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 TMPRSS11E

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
G405	G405C	LUAD	1
S373	G375E	SKCM	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 TMPRSS11E

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
G405	G405C	-0.69492318
S373	G375E	-0.4873859

(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 TMPRSS11E from PDB

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Differential gene expression and gene-gene network for TMPRSS11E

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 TMPRSS11E and the right PPI network was created from samples without mutations in the LBS of TMPRSS11E. 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 TMPRSS11E

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 TMPRSS11E

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.