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 91227
Gene summary
Basic gene Info.Gene symbol91227
Gene name
Synonyms
CytomapUCSC genome browser:
Type of gene
RefGenes
Description
Modification date
dbXrefs
ProteinUniProt: P19440
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_91227
BioGPS: 91227
PathwayNCI Pathway Interaction Database: 91227
KEGG: 91227
REACTOME: 91227
Pathway Commons: 91227
ContextiHOP: 91227
ligand binding site mutation search in PubMed: 91227
UCL Cancer Institute: 91227
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 91227

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 91227
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
T381G380D-0.74585576
S451S451L-0.51070719
I477T479M-0.50190314
(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 91227 from PDB

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Differential gene expression and gene-gene network for 91227
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 91227 and the right PPI network was created from samples without mutations in the LBS of 91227. 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 91227
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 91227
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
Approved|nutraceuticalDB00143GlutathioneSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of 91227 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
GLUL-GLUTAMIC ACID4gdxBS451
GLUL-GLUTAMIC ACID4gg2BS451
SEETRIHYDROXY(L-SERINATO-KAPPAO~3~)BORATE(1-)4zc6BT381 S451
GLUL-GLUTAMIC ACID4zcgBT381 S451
4M8(2S)-2-AMINO-4-[(S)-HYDROXY(METHOXY)PHOSPHORYL]BUTANOIC ACID4zbkBT381 S451 I477


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Conservation information for LBS of 91227
Multiple alignments for P19440 in multiple species
LBSAA sequence# speciesSpecies
A472MVVGASGGTQI2Mus musculus, Rattus norvegicus
A472MVVGAAGGTQI1Homo sapiens
A472LVVGASGGSRI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A472MALGASGGSRI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A472MVLGGSGGSRI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A472AALGGAGGMHI1Arabidopsis thaliana
A472AAVGASGGANI1Arabidopsis thaliana
A472AALGASGGMYI1Arabidopsis thaliana
D423NDEMDDFSSPN2Mus musculus, Rattus norvegicus
D423NNEMDDFSSPS1Homo sapiens
D423NNEMDDFAQFN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D423NDQMDDFSIPG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D423NDHMDDFASPG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D423NNEMDDFSTPT1Arabidopsis thaliana
D423NNEMDDFSIPM1Arabidopsis thaliana
D423NNEMDDFSIPT1Arabidopsis thaliana
E420IVLNNEMDDFS3Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana
E420ILFNDEMDDFS2Mus musculus, Rattus norvegicus
E420ILFNNEMDDFS1Homo sapiens
E420VIFNNEMDDFA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E420VVFNDQMDDFS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E420IILNDHMDDFA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G473VVGASGGTQIT2Mus musculus, Rattus norvegicus
G473VVGAAGGTQIT1Homo sapiens
G473VVGASGGSRIT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G473ALGASGGSRIV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G473VLGGSGGSRIV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G473ALGGAGGMHII1Arabidopsis thaliana
G473AVGASGGANII1Arabidopsis thaliana
G473ALGASGGMYII1Arabidopsis thaliana
G474VGASGGTQITT2Mus musculus, Rattus norvegicus
G474VGAAGGTQITT1Homo sapiens
G474VGASGGSRITT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G474LGASGGSRIVT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G474LGGSGGSRIVT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G474LGGAGGMHIIP1Arabidopsis thaliana
G474VGASGGANIIA1Arabidopsis thaliana
G474LGASGGMYIIA1Arabidopsis thaliana
I477SGGSRIVTAVL2Schizosaccharomyces pombe (strain 972 / ATCC 24843), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I477SGGTQITTSVA2Mus musculus, Rattus norvegicus
I477AGGTQITTATA1Homo sapiens
I477SGGSRITTSVL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I477AGGMHIIPAVL1Arabidopsis thaliana
I477SGGANIIAGTT1Arabidopsis thaliana
I477SGGMYIIAGTT1Arabidopsis thaliana
N401ATSTINLYFGS3Homo sapiens, Mus musculus, Rattus norvegicus
N401MTSTINGYFGA2Arabidopsis thaliana, Arabidopsis thaliana
N401LTTTINLLFGS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N401ITSTVNLLFGS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N401LTASINLMFGS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N401MTSTVNYRFGA1Arabidopsis thaliana
S451GKQPLSSMCPS2Mus musculus, Rattus norvegicus
S451GKQPLSSMCPT1Homo sapiens
S451GKRPLSSTAPT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S451FKRPQSSSAPT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S451GKRPQSSAVPT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S451NKRPLSSMTPL1Arabidopsis thaliana
S451GKRPLSSMSPT1Arabidopsis thaliana
S451GKRPLSSMTPT1Arabidopsis thaliana
S452KQPLSSMCPSI2Mus musculus, Rattus norvegicus
S452KQPLSSMCPTI1Homo sapiens
S452KRPLSSTAPTI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S452KRPQSSSAPTI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S452KRPQSSAVPTI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S452KRPLSSMTPLV1Arabidopsis thaliana
S452KRPLSSMSPTI1Arabidopsis thaliana
S452KRPLSSMTPTI1Arabidopsis thaliana
T381PDDGGTAHLSV2Homo sapiens, Rattus norvegicus
T381NNPHGTAHFSI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T381PISHGTTHVST1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T381PNDHGTTHLSV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T381QDDGGTAHLSA1Mus musculus
T381LRDQGTSHFCV1Arabidopsis thaliana
T381IDDHGTSHLSI1Arabidopsis thaliana
T381IKDHGTSHLSI1Arabidopsis thaliana
T399VAATSTINLYF2Mus musculus, Rattus norvegicus
T399VSMTSTINGYF2Arabidopsis thaliana, Arabidopsis thaliana
T399VSATSTINLYF1Homo sapiens
T399VSLTTTINLLF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T399VSITSTVNLLF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T399VGLTASINLMF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T399VSMTSTVNYRF1Arabidopsis thaliana


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