mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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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 QSOX1
Gene summary
Basic gene Info.Gene symbolQSOX1
Gene namequiescin Q6 sulfhydryl oxidase 1
SynonymsQ6|QSCN6
CytomapUCSC genome browser: 1q24
Type of geneprotein-coding
RefGenesNM_001004128.2,
NM_002826.4,
DescriptionhQSOXsulfhydryl oxidase 1
Modification date20141207
dbXrefs MIM : 603120
HGNC : HGNC
Ensembl : ENSG00000116260
HPRD : 06785
HPRD : 08043
Vega : OTTHUMG00000035256
ProteinUniProt: O00391
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_QSOX1
BioGPS: 5768
PathwayNCI Pathway Interaction Database: QSOX1
KEGG: QSOX1
REACTOME: QSOX1
Pathway Commons: QSOX1
ContextiHOP: QSOX1
ligand binding site mutation search in PubMed: QSOX1
UCL Cancer Institute: QSOX1
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:0006457protein folding18393449


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Ligand binding site mutations for QSOX1
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
R401H399YHNSC1
F535F535CKIRC1
R401R401LLUAD1
R401H399RLUAD1
P404P404LSKCM1
R401F400LSKCM1
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 QSOX1
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
P404P404L0.084525683
R401R401L-0.57483185
R401F400L-0.57305905
F535F535C-0.43907259
R401H399R-0.13612151
R401H399Y-0.10162784
(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 QSOX1 from PDB

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Differential gene expression and gene-gene network for QSOX1
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 QSOX1 and the right PPI network was created from samples without mutations in the LBS of QSOX1. 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 QSOX1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0236969Substance-Related Disorders1Biomarker

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

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Pharmacological information for QSOX1
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 QSOX1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
FADFAD3lliAR401 P404 F535
FADFAD3llkAR401 P404 F535
FADFAD3llkBR401 P404 F535
FADFAD3llkCR401 P404 F535


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Conservation information for LBS of QSOX1
Multiple alignments for O00391 in multiple species
LBSAA sequence# speciesSpecies
C405FRGFPCSLWVL3Homo sapiens, Mus musculus, Rattus norvegicus
C405FRGYPCGLWTI1Gallus gallus
C452FGCRDCASHFE1Homo sapiens
C452FGCQECAQHFE1Gallus gallus
C452FGCRDCADHFE1Mus musculus
C452FGCRDCANHFE1Rattus norvegicus
D451FFGCRDCASHF1Homo sapiens
D451FFGCQECAQHF1Gallus gallus
D451FFGCRDCADHF1Mus musculus
D451FFGCRDCANHF1Rattus norvegicus
F447YVHYFFGCRDC1Homo sapiens
F447YVKHFFGCQEC1Gallus gallus
F447YVQFFFGCRDC1Mus musculus
F447YVQSFFGCRDC1Rattus norvegicus
F456DCASHFEQMAA1Homo sapiens
F456ECAQHFEAMAA1Gallus gallus
F456DCADHFEQMAA1Mus musculus
F456DCANHFEQMAA1Rattus norvegicus
F535FLKAHFSPANI2Mus musculus, Rattus norvegicus
F535FLKAHFSPSNI1Homo sapiens
F535FLKEHFSLGNL1Gallus gallus
H412LWVLFHFLTVQ3Homo sapiens, Mus musculus, Rattus norvegicus
H412LWTIFHLLTVQ1Gallus gallus
H455RDCASHFEQMA1Homo sapiens
H455QECAQHFEAMA1Gallus gallus
H455RDCADHFEQMA1Mus musculus
H455RDCANHFEQMA1Rattus norvegicus
H481WLWTSHNRVNA2Mus musculus, Rattus norvegicus
H481WLWSSHNRVNA1Homo sapiens
H481WLWSHHNEVNA1Gallus gallus
K500DPQFPKVQWPP2Homo sapiens, Rattus norvegicus
K500DPQFPKLQWPP1Gallus gallus
K500DPHFPKVQWPP1Mus musculus
L488RVNARLSGALS2Mus musculus, Rattus norvegicus
L488RVNARLAGAPS1Homo sapiens
L488EVNARLAGGDT1Gallus gallus
N482LWTSHNRVNAR2Mus musculus, Rattus norvegicus
N482LWSSHNRVNAR1Homo sapiens
N482LWSHHNEVNAR1Gallus gallus
N485SHNRVNARLSG2Mus musculus, Rattus norvegicus
N485SHNRVNARLAG1Homo sapiens
N485HHNEVNARLAG1Gallus gallus
P404HFRGFPCSLWV3Homo sapiens, Mus musculus, Rattus norvegicus
P404HFRGYPCGLWT1Gallus gallus
R401SEPHFRGFPCS3Homo sapiens, Mus musculus, Rattus norvegicus
R401SEPHFRGYPCG1Gallus gallus
V484TSHNRVNARLS2Mus musculus, Rattus norvegicus
V484SSHNRVNARLA1Homo sapiens
V484SHHNEVNARLA1Gallus gallus
W408FPCSLWVLFHF3Homo sapiens, Mus musculus, Rattus norvegicus
W408YPCGLWTIFHL1Gallus gallus
W478AVLWLWSSHNR1Homo sapiens
W478AVLWLWSHHNE1Gallus gallus
W478AILWLWTSHNR1Mus musculus
W478AVLWLWTSHNR1Rattus norvegicus
W503FPKVQWPPREL3Homo sapiens, Mus musculus, Rattus norvegicus
W503FPKLQWPPPDM1Gallus gallus


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