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 symbolNSD1
Gene namenuclear receptor binding SET domain protein 1
SynonymsARA267|KMT3B|SOTOS|SOTOS1|STO
CytomapUCSC genome browser: 5q35
Type of geneprotein-coding
RefGenesNM_022455.4,
NM_172349.2,
DescriptionH3-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 date20141222
dbXrefs MIM : 606681
HGNC : HGNC
Ensembl : ENSG00000165671
HPRD : 09455
Vega : OTTHUMG00000130846
ProteinUniProt: Q96L73
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_NSD1
BioGPS: 64324
PathwayNCI Pathway Interaction Database: NSD1
KEGG: NSD1
REACTOME: NSD1
Pathway Commons: NSD1
ContextiHOP: NSD1
ligand binding site mutation search in PubMed: NSD1
UCL Cancer Institute: NSD1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0010452histone H3-K36 methylation21196496
GO:0045893positive regulation of transcription, DNA-templated11509567


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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
LBSAAchange of nsSNVCancer type# samples
Y1997Y1997CHNSC1
T1994D1992HHNSC1
F1996F1996ILUAD1
R1952R1952WSTAD1
R2017R2017QUCEC1
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.
LBSAAchange of nsSNVRelative stability change
R2017R2017Q-1.3871123
Y1997Y1997C-1.1631572
R1952R1952W-0.85541192
T1994D1992H-0.76374605
F1996F1996I-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 IDDisease name# PubMedAssociation type
umls:C0175695Sotos Syndrome62Biomarker, GeneticVariation
umls:C0023467Leukemia, Myeloid, Acute8AlteredExpression, Biomarker
umls:C0265210Weaver syndrome4Biomarker
umls:C0004903Beckwith-Wiedemann Syndrome3Biomarker, GeneticVariation
umls:C3714756Intellectual Disability2Biomarker, GeneticVariation
umls:C0004352Autistic Disorder1Biomarker, GeneticVariation
umls:C0010606Carcinoma, Adenoid Cystic1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs
168250R2017QPathogenicGermlineGeneReviews:NBK1479
MedGen:CN035106
OMIM:117550
Orphanet:ORPHA821
207198Y1997CPathogenicGermlineGeneReviews: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.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of NSD1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of NSD1
Multiple alignments for Q96L73 in multiple species
LBSAA sequence# speciesSpecies


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