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 692199
Gene summary
Basic gene Info.Gene symbol692199
Gene name
Synonyms
CytomapUCSC genome browser:
Type of gene
RefGenes
Description
Modification date
dbXrefs
ProteinUniProt: Q13838
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_692199
BioGPS: 692199
PathwayNCI Pathway Interaction Database: 692199
KEGG: 692199
REACTOME: 692199
Pathway Commons: 692199
ContextiHOP: 692199
ligand binding site mutation search in PubMed: 692199
UCL Cancer Institute: 692199
Assigned class in mutLBSgeneDB

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for 692199

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.


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Protein structure related information for 692199
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
Q323E325D-0.57205232
(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 692199 from PDB

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Differential gene expression and gene-gene network for 692199
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 692199 and the right PPI network was created from samples without mutations in the LBS of 692199. 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 692199
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

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Pharmacological information for 692199
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ApprovedDB02325Isopropyl AlcoholSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of 692199 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ADPADP1xtjAQ323


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Conservation information for LBS of 692199
Multiple alignments for Q13838 in multiple species
LBSAA sequence# speciesSpecies
D196KHFILDECDKM7Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Pan troglodytes, Macaca mulatta, Bos taurus
D196RHFILDECDKM3Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
D196KNFVIDECDKV3Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
D196KHFVLDECDKL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D196KHFVLDECDKM1Drosophila melanogaster
D196RIFVLDECDKM1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
E132FQISKEYERFS8Homo sapiens, Drosophila melanogaster, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Pan troglodytes, Macaca mulatta, Bos taurus
E132YQIRNEYLRFS3Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
E132YQICHEFERFS2Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
E132FQIKNEYARFS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E132YQICNEFVRFS1Arabidopsis thaliana
E132FQIRNEYNRFS1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
E197HFILDECDKML10Homo sapiens, Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Pan troglodytes, Macaca mulatta, Bos taurus
E197NFVIDECDKVL3Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
E197HFVLDECDKLL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E197HFVLDECDKML1Drosophila melanogaster
E197IFVLDECDKML1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
F47IHSSGFRDFLL11Homo sapiens, Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Drosophila melanogaster, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Pan troglodytes, Macaca mulatta, Bos taurus
F47IHSTGFKDFLL3Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
F47IHSTGFRDFLL2Schizosaccharomyces pombe (strain 972 / ATCC 24843), Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
F65IVDCGFEHPSE8Homo sapiens, Drosophila melanogaster, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Pan troglodytes, Macaca mulatta, Bos taurus
F65IIDCGFEHPSE3Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
F65IQDCGFEHPSE2Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
F65ITDSGFEHPSE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F65IVDSGFEHPSE1Arabidopsis thaliana
F65IGDCGFEHPSE1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
G92CQAKSGMGKTA12Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Drosophila melanogaster, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Pan troglodytes, Macaca
G92CQAKSGLGKTA4Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS
G94AKSGMGKTAVF12Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Drosophila melanogaster, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Pan troglodytes, Macaca
G94AKSGLGKTAVF4Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS
H67DCGFEHPSEVQ14Homo sapiens, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Drosophila melanogaster, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Pan troglodytes, Macaca mulatta, Bos taurus, Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGS
H67DSGFEHPSEVQ2Schizosaccharomyces pombe (strain 972 / ATCC 24843), Arabidopsis thaliana
K90VLCQAKSGMGK8Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Mus musculus, Rattus norvegicus, Canis lupus familiaris, Pan troglodytes, Macaca mulatta, Bos taurus
K90VICQAKSGMGK3Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
K90VLCQAKSGLGK3Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
K90ILCQAKSGMGK1Drosophila melanogaster
K90IICQAKSGLGK1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
K95KSGMGKTAVFV12Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Drosophila melanogaster, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Pan troglodytes, Macaca
K95KSGLGKTAVFV4Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS
M93QAKSGMGKTAV12Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Drosophila melanogaster, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Pan troglodytes, Macaca
M93QAKSGLGKTAV4Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS
P68CGFEHPSEVQH10Homo sapiens, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Drosophila melanogaster, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Pan troglodytes, Macaca mulatta, Bos taurus
P68CGFEHPSEVQQ4Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS
P68SGFEHPSEVQQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P68SGFEHPSEVQH1Arabidopsis thaliana
Q323HRGMPQEERLS7Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Pan troglodytes, Macaca mulatta, Bos taurus
Q323HSGMTQEERLT2Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
Q323HGHMKQEERIA2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
Q323HGGLPQEERIK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q323HSGMSQEERLT1Arabidopsis thaliana
Q323HRGMTQEERLN1Drosophila melanogaster
Q323HSGVSQEERIR1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
Q323HGHMRQEERIA1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
Q72HPSEVQHECIP11Homo sapiens, Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Drosophila melanogaster, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Pan troglodytes, Macaca mulatta, Bos taurus
Q72HPSEVQQHTIP3Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
Q72HPSEVQQVCIP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q72HPSEVQQTCIP1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
S91LCQAKSGMGKT9Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Drosophila melanogaster, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Pan troglodytes, Macaca mulatta, Bos taurus
S91ICQAKSGMGKT3Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
S91LCQAKSGLGKT3Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
S91ICQAKSGLGKT1Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
T96SGMGKTAVFVL12Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Arabidopsis thaliana, Oryza sativa subsp. japonica, Oryza sativa subsp. japonica, Drosophila melanogaster, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Pan troglodytes, Macaca
T96SGLGKTAVFVL4Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS


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