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 NNMT

Gene summary

Basic gene Info.	Gene symbol	NNMT
	Gene name	nicotinamide N-methyltransferase
	Synonyms	-
	Cytomap	UCSC genome browser: 11q23.1
	Type of gene	protein-coding
	RefGenes	NM_006169.2,
	Description	-
	Modification date	20141207
dbXrefs	MIM : 600008
	HGNC : HGNC
	Ensembl : ENSG00000166741
	HPRD : 02478
	Vega : OTTHUMG00000168245
Protein	UniProt: P40261 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_NNMT
	BioGPS: 4837
Pathway	NCI Pathway Interaction Database: NNMT
	KEGG: NNMT
	REACTOME: NNMT
	Pathway Commons: NNMT
Context	iHOP: NNMT
	ligand binding site mutation search in PubMed: NNMT
	UCL Cancer Institute: NNMT
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 NNMT

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
G63	D61N	BLCA	1
Y204	I206L	COAD	1
N90	L91Q	HNSC	1
Y11	Y11C	LUAD	1
Y25	K26R	LUAD	1
D85	D85G	SKCM	1
Y20	D19N	SKCM	1
G63	G63D	SKCM	1
Y204	M205T	STAD	1
C141	L139P	UCEC	1
A198	A198V	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 NNMT

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
C141	L139P	-1.5806034
G63	D61N	-1.4089758
Y204	M205T	-1.2358818
G63	G63D	-1.1606107
D85	D85G	-1.1373302
Y25	K26R	-0.86499042
Y20	D19N	-0.81602399
Y11	Y11C	-0.77959695
A198	A198V	-0.76086613
N90	L91Q	-0.71771003
Y204	I206L	-0.16487276

(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 NNMT from PDB

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Differential gene expression and gene-gene network for NNMT

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

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 NNMT

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.

Gene-centered drug-gene interaction network

Drug information targeting mutLBSgene (Approved drugs only)

Drug status	DrugBank ID	Name	Type	Drug structure
Approved\|investigational\|nutraceutical	DB00627	Niacin	Small molecule

Gene-centered ligand-gene interaction network

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

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
SAH		S-ADENOSYL-L-HOMOCYSTEINE	3rod	C	Y11 Y20 Y25 G63 D85 C141
SAH		S-ADENOSYL-L-HOMOCYSTEINE	2iip	A	Y11 Y20 Y25 G63 D85 N90 C141
SAH		S-ADENOSYL-L-HOMOCYSTEINE	2iip	B	Y11 Y20 Y25 G63 D85 N90 C141
SAH		S-ADENOSYL-L-HOMOCYSTEINE	2iip	C	Y11 Y20 Y25 G63 D85 N90 C141
SAH		S-ADENOSYL-L-HOMOCYSTEINE	2iip	D	Y11 Y20 Y25 G63 D85 N90 C141
SAH		S-ADENOSYL-L-HOMOCYSTEINE	3rod	A	Y11 Y20 Y25 G63 D85 N90 C141
SAH		S-ADENOSYL-L-HOMOCYSTEINE	3rod	B	Y11 Y20 Y25 G63 D85 N90 C141
SAH		S-ADENOSYL-L-HOMOCYSTEINE	3rod	D	Y11 Y20 Y25 G63 D85 N90 C141
NCA		NICOTINAMIDE	3rod	A	Y20 A198 Y204
NCA		NICOTINAMIDE	3rod	B	Y20 Y204
NCA		NICOTINAMIDE	3rod	C	Y20 Y204
NCA		NICOTINAMIDE	3rod	D	Y20 Y204

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Conservation information for LBS of NNMT

Multiple alignments for P40261 in multiple species

LBS

AA sequence

# species

Species