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 EHMT1

Gene summary

Basic gene Info.	Gene symbol	EHMT1
	Gene name	euchromatic histone-lysine N-methyltransferase 1
	Synonyms	EUHMTASE1\|Eu-HMTase1\|FP13812\|GLP\|GLP1\|KMT1D\|bA188C12.1
	Cytomap	UCSC genome browser: 9q34.3
	Type of gene	protein-coding
	RefGenes	NM_001145527.1, NM_024757.4,
	Description	G9a-like protein 1H3-K9-HMTase 5histone H3-K9 methyltransferase 5histone-lysine N-methyltransferase EHMT1histone-lysine N-methyltransferase, H3 lysine-9 specific 5lysine N-methyltransferase 1D
	Modification date	20141219
dbXrefs	MIM : 607001
	HGNC : HGNC
	Ensembl : ENSG00000181090
	HPRD : 07383
	Vega : OTTHUMG00000020995
Protein	UniProt: Q9H9B1 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_EHMT1
	BioGPS: 79813
Pathway	NCI Pathway Interaction Database: EHMT1
	KEGG: EHMT1
	REACTOME: EHMT1
	Pathway Commons: EHMT1
Context	iHOP: EHMT1
	ligand binding site mutation search in PubMed: EHMT1
	UCL Cancer Institute: EHMT1
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:0016568	chromatin modification	12004135
GO:0016571	histone methylation	12004135
GO:0018027	peptidyl-lysine dimethylation	20118233

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Ligand binding site mutations for EHMT1

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
D1178	D1178N	COAD	1
C1062	V1063A	COAD	1
Y1173	Y1173C	COAD	1
Y1155	E1154V	COAD	1
F915	G917C	LUSC	1
W1138	V1140M	STAD	1
F915	A914V	UCEC	1
N936	A934T	UCEC	1
D1171,E1169	E1170D	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 EHMT1

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
C1062	V1063A	-1.6927401
E1169	E1170D	-1.4978539
D1171	E1170D	-1.4978539
D1178	D1178N	-1.4675492
Y1173	Y1173C	-1.3135736
N936	A934T	-0.91383454
Y1155	E1154V	-0.82805077
F915	A914V	-0.58081429
W1138	V1140M	-0.45412568
F915	G917C	-0.44169811

(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 EHMT1 from PDB

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Differential gene expression and gene-gene network for EHMT1

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 EHMT1 and the right PPI network was created from samples without mutations in the LBS of EHMT1. 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 EHMT1

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0795833	Kleefstra Syndrome	8	Biomarker, GeneticVariation
umls:C0025149	Medulloblastoma	1	Biomarker

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for EHMT1

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.