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 NSD1

Gene summary

Basic gene Info.	Gene symbol	NSD1
	Gene name	nuclear receptor binding SET domain protein 1
	Synonyms	ARA267\|KMT3B\|SOTOS\|SOTOS1\|STO
	Cytomap	UCSC genome browser: 5q35
	Type of gene	protein-coding
	RefGenes	NM_022455.4, NM_172349.2,
	Description	H3-K36-HMTaseH4-K20-HMTaseNR-binding SET domain-containing proteinandrogen receptor coactivator 267 kDa proteinandrogen receptor-associated coregulator 267androgen receptor-associated protein of 267 kDahistone-lysine N-methyltransferase, H3 lysine-3
	Modification date	20141222
dbXrefs	MIM : 606681
	HGNC : HGNC
	Ensembl : ENSG00000165671
	HPRD : 09455
	Vega : OTTHUMG00000130846
Protein	UniProt: Q96L73 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_NSD1
	BioGPS: 64324
Pathway	NCI Pathway Interaction Database: NSD1
	KEGG: NSD1
	REACTOME: NSD1
	Pathway Commons: NSD1
Context	iHOP: NSD1
	ligand binding site mutation search in PubMed: NSD1
	UCL Cancer Institute: NSD1
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:0010452	histone H3-K36 methylation	21196496
GO:0045893	positive regulation of transcription, DNA-templated	11509567

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Ligand binding site mutations for NSD1

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
Y1997	Y1997C	HNSC	1
T1994	D1992H	HNSC	1
F1996	F1996I	LUAD	1
R1952	R1952W	STAD	1
R2017	R2017Q	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 NSD1

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
R2017	R2017Q	-1.3871123
Y1997	Y1997C	-1.1631572
R1952	R1952W	-0.85541192
T1994	D1992H	-0.76374605
F1996	F1996I	-0.75592286

(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 NSD1 from PDB

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Differential gene expression and gene-gene network for NSD1

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 NSD1 and the right PPI network was created from samples without mutations in the LBS of NSD1. 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 NSD1

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0175695	Sotos Syndrome	62	Biomarker, GeneticVariation
umls:C0023467	Leukemia, Myeloid, Acute	8	AlteredExpression, Biomarker
umls:C0265210	Weaver syndrome	4	Biomarker
umls:C0004903	Beckwith-Wiedemann Syndrome	3	Biomarker, GeneticVariation
umls:C3714756	Intellectual Disability	2	Biomarker, GeneticVariation
umls:C0004352	Autistic Disorder	1	Biomarker, GeneticVariation
umls:C0010606	Carcinoma, Adenoid Cystic	1	Biomarker

Mutation level pathogenic information (ClinVar annotation)

Allele ID	AA change	Clinical significance	Origin	Phenotype IDs
168250	R2017Q	Pathogenic	Germline	GeneReviews:NBK1479 MedGen:CN035106 OMIM:117550 Orphanet:ORPHA821
207198	Y1997C	Pathogenic	Germline	GeneReviews:NBK1479 MedGen:CN035106 OMIM:117550 Orphanet:ORPHA821

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Pharmacological information for NSD1

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.