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 MALT1

Gene summary

Basic gene Info.	Gene symbol	MALT1
	Gene name	MALT1 paracaspase
	Synonyms	IMD12\|MLT\|MLT1
	Cytomap	UCSC genome browser: 18q21
	Type of gene	protein-coding
	RefGenes	NM_006785.3, NM_173844.2,
	Description	MALT lymphoma-associated translocationMALT1 proteasecaspase-like proteinmucosa associated lymphoid tissue lymphoma translocation gene 1mucosa-associated lymphoid tissue lymphoma translocation protein 1paracaspase
	Modification date	20141207
dbXrefs	MIM : 604860
	HGNC : HGNC
	Ensembl : ENSG00000172175
	HPRD : 06892
	Vega : OTTHUMG00000132761
Protein	UniProt: Q9UDY8 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_MALT1
	BioGPS: 10892
Pathway	NCI Pathway Interaction Database: MALT1
	KEGG: MALT1
	REACTOME: MALT1
	Pathway Commons: MALT1
Context	iHOP: MALT1
	ligand binding site mutation search in PubMed: MALT1
	UCL Cancer Institute: MALT1
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:0006508	proteolysis	18223652
GO:0016567	protein ubiquitination	14695475
GO:0042981	regulation of apoptotic process	12819136
GO:0050852	T cell receptor signaling pathway	15125833
GO:0051168	nuclear export	16123224
GO:0051259	protein oligomerization	15125833

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Ligand binding site mutations for MALT1

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
E497	E497V	BLCA	1
V381	S382L	BLCA	1
A394	R392C	COAD	1
E497	G495A	HNSC	1
V381	S382L	LUAD	1
K358	H356Y	LUAD	1
E500	E500D	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 MALT1

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
V381	S382L	0.21838124
K358	H356Y	-0.93170645
A394	R392C	-0.70248884
E500	E500D	-0.5959327
E497	E497V	-0.57559432
E497	G495A	-0.55319047

(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 MALT1 from PDB

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Differential gene expression and gene-gene network for MALT1

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 MALT1 and the right PPI network was created from samples without mutations in the LBS of MALT1. 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 MALT1

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0079744	Lymphoma, Large B-Cell, Diffuse	12	Biomarker, GeneticVariation
umls:C3809583	IMMUNODEFICIENCY 12	1	GeneticVariation

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for MALT1

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.

Drug information targeting mutLBSgene (Approved drugs only)

Drug status

DrugBank ID

Name

Type

Drug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of MALT1 go to BioLip

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
III		Peptide ligand (LEU,ARG,SER)	4i1p	A	E497 E500
III		Peptide ligand (VAL,ARG,PRO,ARG)	3uo8	B	K358 E497 E500
III		Peptide ligand (VAL,ARG,PRO,ARG)	3uo8	C	K358 E497 E500
III		Peptide ligand (VAL,ARG,PRO,ARG)	3uoa	B	K358 E497 E500
III		Peptide ligand (VAL,ARG,PRO,ARG)	3uoa	C	K358 E497 E500
III		Peptide ligand (PHQ,VAL,ARG,PRO,ARG,CF0)	3v4o	A	K358 E497 E500
III		Peptide ligand (LEU,ARG,SER)	4i1p	C	K358 E497 E500
LZU	THIORIDAZINE	10-{2-[(2S)-1-METHYLPIPERIDIN-2-YL]ETHYL}-2- (METHYLSULFANYL)-10H-PHENOTHIAZINE	4i1r	A	V381 A394

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Conservation information for LBS of MALT1

Multiple alignments for Q9UDY8 in multiple species

LBS

AA sequence

# species

Species