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 TTN

Gene summary

Basic gene Info.	Gene symbol	TTN
	Gene name	titin
	Synonyms	CMD1G\|CMH9\|CMPD4\|EOMFC\|HMERF\|LGMD2J\|MYLK5\|TMD
	Cytomap	UCSC genome browser: 2q31
	Type of gene	protein-coding
	RefGenes	NM_001256850.1, NM_001267550.2,NM_003319.4,NM_133378.4,NM_133379.4, NM_133432.3,NM_133437.4,
	Description	connectinrhabdomyosarcoma antigen MU-RMS-40.14
	Modification date	20141222
dbXrefs	MIM : 188840
	HGNC : HGNC
	Ensembl : ENSG00000155657
	HPRD : 01787
	Vega : OTTHUMG00000154448
Protein	UniProt: Q8WZ42 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_TTN
	BioGPS: 7273
Pathway	NCI Pathway Interaction Database: TTN
	KEGG: TTN
	REACTOME: TTN
	Pathway Commons: TTN
Context	iHOP: TTN
	ligand binding site mutation search in PubMed: TTN
	UCL Cancer Institute: TTN
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
GO:0051592	response to calcium ion	7607248

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Ligand binding site mutations for TTN

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
V2954	T2952I	COAD	2
T2945	D2947N	COAD	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 TTN

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
T2945	D2947N	-1.0899177
V2954	T2952I	-0.29957278

(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 TTN from PDB

PDB ID	PDB title	PDB structure
1BPV	TITIN MODULE A71 FROM HUMAN CARDIAC MUSCLE, NMR, 50 STRUCTURES

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Differential gene expression and gene-gene network for TTN

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

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0007193	Cardiomyopathy, Dilated	28	AlteredExpression, Biomarker, GeneticVariation
umls:C0026848	Muscular Diseases	10	Biomarker, GeneticVariation
umls:C1863599	Hereditary Myopathy with Early Respiratory Failure	9	Biomarker, GeneticVariation
umls:C1838244	TIBIAL MUSCULAR DYSTROPHY, TARDIVE	7	Biomarker, GeneticVariation
umls:C0751336	Distal Myopathies	5	Biomarker, GeneticVariation
umls:C0340427	Familial dilated cardiomyopathy	4	Biomarker
umls:C1861065	Cardiomyopathy, Familial Hypertrophic, 9	2	Biomarker, GeneticVariation
umls:C2673677	Myopathy, Early-Onset, with Fatal Cardiomyopathy	1	Biomarker, GeneticVariation
umls:C0151786	Muscle Weakness	1	Biomarker

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for TTN

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.