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 646817
Gene summary
Basic gene Info.Gene symbol646817
Gene name
Synonyms
CytomapUCSC genome browser:
Type of gene
RefGenes
Description
Modification date
dbXrefs
ProteinUniProt: Q01105
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_646817
BioGPS: 646817
PathwayNCI Pathway Interaction Database: 646817
KEGG: 646817
REACTOME: 646817
Pathway Commons: 646817
ContextiHOP: 646817
ligand binding site mutation search in PubMed: 646817
UCL Cancer Institute: 646817
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 646817

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 646817
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
R77R77C-0.88368247
N74Y73C-0.71329238
I66E65D-0.58407881
(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 646817 from PDB

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Differential gene expression and gene-gene network for 646817
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 646817 and the right PPI network was created from samples without mutations in the LBS of 646817. 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 646817
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 646817
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 646817 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of 646817
Multiple alignments for Q01105 in multiple species
LBSAA sequence# speciesSpecies
A62RLNEQASEEIL3Homo sapiens, Mus musculus, Rattus norvegicus
A62KINEKASDEVL2Arabidopsis thaliana, Arabidopsis thaliana
A62KVNEEASDKVL1Oryza sativa subsp. japonica
A62KVNEEACDKVL1Oryza sativa subsp. japonica
A62ALNEKASEEIL1Drosophila melanogaster
D223GEVIKDDIWPN3Homo sapiens, Mus musculus, Rattus norvegicus
D223ADIIKEDLWPN1Arabidopsis thaliana
D223ADIIKEDLWSN1Arabidopsis thaliana
D223AEIIKEDLWPN1Oryza sativa subsp. japonica
D223ADVIKEDLWPN1Oryza sativa subsp. japonica
D223AELIKDDLWPN1Drosophila melanogaster
E127RVEVTEFEDIK3Homo sapiens, Mus musculus, Rattus norvegicus
E127SLDVEDAKDVK1Arabidopsis thaliana
E127SLEVEDAKDVK1Arabidopsis thaliana
E127SVDVDDSKDVK1Oryza sativa subsp. japonica
E127SIDVDDSEDIK1Oryza sativa subsp. japonica
E127KLEVEEFEDIK1Drosophila melanogaster
F81LRQPFFQKRSE3Homo sapiens, Mus musculus, Rattus norvegicus
F81IRKPVYDKRNE2Arabidopsis thaliana, Arabidopsis thaliana
F81IRRPVYLRRSD1Oryza sativa subsp. japonica
F81VRRPVYVRRNK1Oryza sativa subsp. japonica
F81LRKPCYEKRSE1Drosophila melanogaster
I66QASEEILKVEQ3Homo sapiens, Mus musculus, Rattus norvegicus
I66KASDEVLEVEQ2Arabidopsis thaliana, Arabidopsis thaliana
I66EASDKVLEVEQ1Oryza sativa subsp. japonica
I66EACDKVLELEQ1Oryza sativa subsp. japonica
I66KASEEILKVEQ1Drosophila melanogaster
K222LGEVIKDDIWP3Homo sapiens, Mus musculus, Rattus norvegicus
K222VADIIKEDLWP1Arabidopsis thaliana
K222VADIIKEDLWS1Arabidopsis thaliana
K222VAEIIKEDLWP1Oryza sativa subsp. japonica
K222VADVIKEDLWP1Oryza sativa subsp. japonica
K222IAELIKDDLWP1Drosophila melanogaster
N59EIDRLNEQASE3Homo sapiens, Mus musculus, Rattus norvegicus
N59DLEKINEKASD2Arabidopsis thaliana, Arabidopsis thaliana
N59ELEKVNEEASD1Oryza sativa subsp. japonica
N59EIEKVNEEACD1Oryza sativa subsp. japonica
N59EIDALNEKASE1Drosophila melanogaster
N74VEQKYNKLRQP3Homo sapiens, Mus musculus, Rattus norvegicus
N74VEQKYNVIRKP2Arabidopsis thaliana, Arabidopsis thaliana
N74VEQKYSEIRRP1Oryza sativa subsp. japonica
N74LEQKYNEVRRP1Oryza sativa subsp. japonica
N74VEQKYNKLRKP1Drosophila melanogaster
P227KDDIWPNPLQY3Homo sapiens, Mus musculus, Rattus norvegicus
P227KEDLWPNPLKY2Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
P227KEDLWPNPLTY1Arabidopsis thaliana
P227KEDLWSNPLTY1Arabidopsis thaliana
P227KDDLWPNPLQY1Drosophila melanogaster
Q78YNKLRQPFFQK3Homo sapiens, Mus musculus, Rattus norvegicus
Q78YNVIRKPVYDK2Arabidopsis thaliana, Arabidopsis thaliana
Q78YSEIRRPVYLR1Oryza sativa subsp. japonica
Q78YNEVRRPVYVR1Oryza sativa subsp. japonica
Q78YNKLRKPCYEK1Drosophila melanogaster
R77KYNKLRQPFFQ3Homo sapiens, Mus musculus, Rattus norvegicus
R77KYNVIRKPVYD2Arabidopsis thaliana, Arabidopsis thaliana
R77KYSEIRRPVYL1Oryza sativa subsp. japonica
R77KYNEVRRPVYV1Oryza sativa subsp. japonica
R77KYNKLRKPCYE1Drosophila melanogaster
S63LNEQASEEILK3Homo sapiens, Mus musculus, Rattus norvegicus
S63INEKASDEVLE2Arabidopsis thaliana, Arabidopsis thaliana
S63VNEEASDKVLE1Oryza sativa subsp. japonica
S63VNEEACDKVLE1Oryza sativa subsp. japonica
S63LNEKASEEILK1Drosophila melanogaster
W226IKDDIWPNPLQ3Homo sapiens, Mus musculus, Rattus norvegicus
W226IKEDLWPNPLK2Oryza sativa subsp. japonica, Oryza sativa subsp. japonica
W226IKEDLWPNPLT1Arabidopsis thaliana
W226IKEDLWSNPLT1Arabidopsis thaliana
W226IKDDLWPNPLQ1Drosophila melanogaster


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