mutLBSgeneDB |
Gene summary for QSOX1 |
Gene summary |
Basic gene Info. | Gene symbol | QSOX1 |
Gene name | quiescin Q6 sulfhydryl oxidase 1 | |
Synonyms | Q6|QSCN6 | |
Cytomap | UCSC genome browser: 1q24 | |
Type of gene | protein-coding | |
RefGenes | NM_001004128.2, NM_002826.4, | |
Description | hQSOXsulfhydryl oxidase 1 | |
Modification date | 20141207 | |
dbXrefs | MIM : 603120 | |
HGNC : HGNC | ||
Ensembl : ENSG00000116260 | ||
HPRD : 06785 | ||
HPRD : 08043 | ||
Vega : OTTHUMG00000035256 | ||
Protein | UniProt: O00391 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_QSOX1 | |
BioGPS: 5768 | ||
Pathway | NCI Pathway Interaction Database: QSOX1 | |
KEGG: QSOX1 | ||
REACTOME: QSOX1 | ||
Pathway Commons: QSOX1 | ||
Context | iHOP: QSOX1 | |
ligand binding site mutation search in PubMed: QSOX1 | ||
UCL Cancer Institute: QSOX1 | ||
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:0006457 | protein folding | 18393449 |
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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 |
LBS | AAchange of nsSNV | Cancer type | # samples | R401 | H399Y | HNSC | 1 | F535 | F535C | KIRC | 1 | R401 | R401L | LUAD | 1 | R401 | H399R | LUAD | 1 | P404 | P404L | SKCM | 1 | R401 | F400L | SKCM | 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 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. |
LBS | AAchange of nsSNV | Relative stability change | P404 | P404L | 0.084525683 | R401 | R401L | -0.57483185 | R401 | F400L | -0.57305905 | F535 | F535C | -0.43907259 | R401 | H399R | -0.13612151 | R401 | H399Y | -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) |
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Phenotype information for QSOX1 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0236969 | Substance-Related Disorders | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype 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 status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of QSOX1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | FAD | FAD | 3lli | A | R401 P404 F535 | FAD | FAD | 3llk | A | R401 P404 F535 | FAD | FAD | 3llk | B | R401 P404 F535 | FAD | FAD | 3llk | C | R401 P404 F535 |
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Conservation information for LBS of QSOX1 |
Multiple alignments for O00391 in multiple species |
LBS | AA sequence | # species | Species | C405 | FRGFPCSLWVL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C405 | FRGYPCGLWTI | 1 | Gallus gallus | C452 | FGCRDCASHFE | 1 | Homo sapiens | C452 | FGCQECAQHFE | 1 | Gallus gallus | C452 | FGCRDCADHFE | 1 | Mus musculus | C452 | FGCRDCANHFE | 1 | Rattus norvegicus | D451 | FFGCRDCASHF | 1 | Homo sapiens | D451 | FFGCQECAQHF | 1 | Gallus gallus | D451 | FFGCRDCADHF | 1 | Mus musculus | D451 | FFGCRDCANHF | 1 | Rattus norvegicus | F447 | YVHYFFGCRDC | 1 | Homo sapiens | F447 | YVKHFFGCQEC | 1 | Gallus gallus | F447 | YVQFFFGCRDC | 1 | Mus musculus | F447 | YVQSFFGCRDC | 1 | Rattus norvegicus | F456 | DCASHFEQMAA | 1 | Homo sapiens | F456 | ECAQHFEAMAA | 1 | Gallus gallus | F456 | DCADHFEQMAA | 1 | Mus musculus | F456 | DCANHFEQMAA | 1 | Rattus norvegicus | F535 | FLKAHFSPANI | 2 | Mus musculus, Rattus norvegicus | F535 | FLKAHFSPSNI | 1 | Homo sapiens | F535 | FLKEHFSLGNL | 1 | Gallus gallus | H412 | LWVLFHFLTVQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H412 | LWTIFHLLTVQ | 1 | Gallus gallus | H455 | RDCASHFEQMA | 1 | Homo sapiens | H455 | QECAQHFEAMA | 1 | Gallus gallus | H455 | RDCADHFEQMA | 1 | Mus musculus | H455 | RDCANHFEQMA | 1 | Rattus norvegicus | H481 | WLWTSHNRVNA | 2 | Mus musculus, Rattus norvegicus | H481 | WLWSSHNRVNA | 1 | Homo sapiens | H481 | WLWSHHNEVNA | 1 | Gallus gallus | K500 | DPQFPKVQWPP | 2 | Homo sapiens, Rattus norvegicus | K500 | DPQFPKLQWPP | 1 | Gallus gallus | K500 | DPHFPKVQWPP | 1 | Mus musculus | L488 | RVNARLSGALS | 2 | Mus musculus, Rattus norvegicus | L488 | RVNARLAGAPS | 1 | Homo sapiens | L488 | EVNARLAGGDT | 1 | Gallus gallus | N482 | LWTSHNRVNAR | 2 | Mus musculus, Rattus norvegicus | N482 | LWSSHNRVNAR | 1 | Homo sapiens | N482 | LWSHHNEVNAR | 1 | Gallus gallus | N485 | SHNRVNARLSG | 2 | Mus musculus, Rattus norvegicus | N485 | SHNRVNARLAG | 1 | Homo sapiens | N485 | HHNEVNARLAG | 1 | Gallus gallus | P404 | HFRGFPCSLWV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P404 | HFRGYPCGLWT | 1 | Gallus gallus | R401 | SEPHFRGFPCS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R401 | SEPHFRGYPCG | 1 | Gallus gallus | V484 | TSHNRVNARLS | 2 | Mus musculus, Rattus norvegicus | V484 | SSHNRVNARLA | 1 | Homo sapiens | V484 | SHHNEVNARLA | 1 | Gallus gallus | W408 | FPCSLWVLFHF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W408 | YPCGLWTIFHL | 1 | Gallus gallus | W478 | AVLWLWSSHNR | 1 | Homo sapiens | W478 | AVLWLWSHHNE | 1 | Gallus gallus | W478 | AILWLWTSHNR | 1 | Mus musculus | W478 | AVLWLWTSHNR | 1 | Rattus norvegicus | W503 | FPKVQWPPREL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W503 | FPKLQWPPPDM | 1 | Gallus gallus |
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