mutated Ligand Binding Site gene DataBase





About Us

Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 NSMCE1
Gene summary
Basic gene Info.Gene symbolNSMCE1
Gene namenon-SMC element 1 homolog (S. cerevisiae)
CytomapUCSC genome browser: 16p12.1
Type of geneprotein-coding
Descriptionnon-structural maintenance of chromosomes element 1 homolog
Modification date20141207
dbXrefs HGNC : HGNC
Ensembl : ENSG00000169189
HPRD : 17648
Vega : OTTHUMG00000131674
ProteinUniProt: Q8WV22
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_NSMCE1
BioGPS: 197370
PathwayNCI Pathway Interaction Database: NSMCE1
Pathway Commons: NSMCE1
ContextiHOP: NSMCE1
ligand binding site mutation search in PubMed: NSMCE1
UCL Cancer Institute: NSMCE1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0016567protein ubiquitination20864041

Ligand binding site mutations for NSMCE1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for NSMCE1
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
(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 NSMCE1 from PDB

Differential gene expression and gene-gene network for NSMCE1
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 NSMCE1 and the right PPI network was created from samples without mutations in the LBS of NSMCE1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for NSMCE1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

Pharmacological information for NSMCE1
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 NSMCE1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of NSMCE1
Multiple alignments for Q8WV22 in multiple species
LBSAA sequence# speciesSpecies
C191DAVKICNICHS1Homo sapiens
C191DAVKVCNICRS1Bos taurus
C191DSVKMCNICHG1Mus musculus
C191DAVKMCNICHS1Rattus norvegicus
C191DMIKVCYVCHN1Danio rerio
C191DVAKICNVCHK1Xenopus tropicalis
C194KICNICHSLLI1Homo sapiens
C194KVCNICRSLLI1Bos taurus
C194KMCNICHGLLI1Mus musculus
C194KMCNICHSLLI1Rattus norvegicus
C194KVCYVCHNIAL1Danio rerio
C194KICNVCHKIAI1Xenopus tropicalis
C204IQGQSCE--TC4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
C204LQCQVCENPSC1Danio rerio
C204IQCQLCE--NC1Xenopus tropicalis
C207CE--TCGIRMH4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
C207CENPSCEIKVH1Danio rerio
C207CE--NCGIPLH1Xenopus tropicalis
C215RMHLPCVAKYF4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
C215KVHLPCVARYF1Danio rerio
C215PLHLQCAGIYF1Xenopus tropicalis
C228NAEPRCPHCND1Homo sapiens
C228SSEPHCPHCND1Bos taurus
C228IPEPHCPHCND1Mus musculus
C228TAEPRCPHCND1Rattus norvegicus
C228RSDPHCPACND1Danio rerio
C228IANPLCPNCKE1Xenopus tropicalis
C231PRCPHCNDYWP2Homo sapiens, Rattus norvegicus
C231PHCPHCNDYWP2Bos taurus, Mus musculus
C231PHCPACNDFWP1Danio rerio
C231PLCPNCKESWP1Xenopus tropicalis
H212CGIRMHLPCVA4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
H212CEIKVHLPCVA1Danio rerio
H212CGIPLHLQCAG1Xenopus tropicalis
H230EPRCPHCNDYW2Homo sapiens, Rattus norvegicus
H230EPHCPHCNDYW2Bos taurus, Mus musculus
H230DPHCPACNDFW1Danio rerio
H230NPLCPNCKESW1Xenopus tropicalis

Copyright © 2016-Present - The University of Texas Health Science Center at Houston
Site Policies | State of Texas