mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

Home

	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 KMT2E

Gene summary

Basic gene Info.	Gene symbol	KMT2E
	Gene name	lysine (K)-specific methyltransferase 2E
	Synonyms	HDCMC04P\|MLL5\|NKp44L
	Cytomap	UCSC genome browser: 7q22.1
	Type of gene	protein-coding
	RefGenes	NM_018682.3, NM_182931.2,NM_032187.1,
	Description	histone-lysine N-methyltransferase 2Ehistone-lysine N-methyltransferase MLL5myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)myeloid/lymphoid or mixed-lineage leukemia protein 5
	Modification date	20141207
dbXrefs	MIM : 608444
	HGNC : HGNC
	Ensembl : ENSG00000005483
	HPRD : 10528
	Vega : OTTHUMG00000157403
Protein	UniProt: Q8IZD2 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_KMT2E
	BioGPS: 55904
Pathway	NCI Pathway Interaction Database: KMT2E
	KEGG: KMT2E
	REACTOME: KMT2E
	Pathway Commons: KMT2E
Context	iHOP: KMT2E
	ligand binding site mutation search in PubMed: KMT2E
	UCL Cancer Institute: KMT2E
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:0051568	histone H3-K4 methylation	-
GO:0071300	cellular response to retinoic acid	-

Top

Ligand binding site mutations for KMT2E

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
C138	C138F	COAD	1
I154	H153Y	STAD	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.

Top

Protein structure related information for KMT2E

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
C138	C138F	-1.3988499
I154	H153Y	-0.65789665

(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 KMT2E from PDB

Top

Differential gene expression and gene-gene network for KMT2E

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 KMT2E and the right PPI network was created from samples without mutations in the LBS of KMT2E. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.

Top

Phenotype information for KMT2E

Gene level disease information (DisGeNet)