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 101929829
Gene summary
Basic gene Info.Gene symbol101929829
Gene name
Synonyms
CytomapUCSC genome browser:
Type of gene
RefGenes
Description
Modification date
dbXrefs
ProteinUniProt: P10635
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_101929829
BioGPS: 101929829
PathwayNCI Pathway Interaction Database: 101929829
KEGG: 101929829
REACTOME: 101929829
Pathway Commons: 101929829
ContextiHOP: 101929829
ligand binding site mutation search in PubMed: 101929829
UCL Cancer Institute: 101929829
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 101929829

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 101929829
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
L213L213P-1.3836679
Q244R242H-1.2169232
I186V185M-1.1319561
W128R129H-0.51434206
H463F464L-0.49761435
(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 101929829 from PDB

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Differential gene expression and gene-gene network for 101929829
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 101929829 and the right PPI network was created from samples without mutations in the LBS of 101929829. 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 101929829
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 101929829
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ApprovedDB01267PaliperidoneSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of 101929829 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ZNZINC(2+)3tbgCH463
ZNZINC(2+)4wnvAH463
ZNZINC(2+)4wnvCH463
ZNZINC(2+)4xryCH463
ZNZINC(2+)4xryDH463
ZNZINC(2+)4xrzCH463
ZNZINC(2+)4xrzDH463
QI9QUININE(3ALPHA,8ALPHA,9R)-6'-METHOXYCINCHONAN-9-OL4wnvBL213
SI6(4AR,6R,8AS)-8A-(2,4-DIFLUOROPHENYL)-6-(1H-PYRAZOL-4- YL)-4,4A,5,6,8,8A-HEXAHYDROPYRANO[3,4-D][1,3]THIAZIN- 2-AMINE4xrzBL213
SI6(4AR,6R,8AS)-8A-(2,4-DIFLUOROPHENYL)-6-(1H-PYRAZOL-4- YL)-4,4A,5,6,8,8A-HEXAHYDROPYRANO[3,4-D][1,3]THIAZIN- 2-AMINE4xrzCL213
SI6(4AR,6R,8AS)-8A-(2,4-DIFLUOROPHENYL)-6-(1H-PYRAZOL-4- YL)-4,4A,5,6,8,8A-HEXAHYDROPYRANO[3,4-D][1,3]THIAZIN- 2-AMINE4xrzDL213
PN0PRINOMASTAT3qm4AL213 Q244
PN0PRINOMASTAT3qm4BL213 Q244
RTZ10-{2-[(2R)-1-METHYLPIPERIDIN-2-YL]ETHYL}-2- (METHYLSULFANYL)-10H-PHENOTHIAZINE3tbgAL213 Q244
RTZ10-{2-[(2R)-1-METHYLPIPERIDIN-2-YL]ETHYL}-2- (METHYLSULFANYL)-10H-PHENOTHIAZINE3tbgBL213 Q244
RTZ10-{2-[(2R)-1-METHYLPIPERIDIN-2-YL]ETHYL}-2- (METHYLSULFANYL)-10H-PHENOTHIAZINE3tbgCL213 Q244
RTZ10-{2-[(2R)-1-METHYLPIPERIDIN-2-YL]ETHYL}-2- (METHYLSULFANYL)-10H-PHENOTHIAZINE3tbgDL213 Q244
PN0PRINOMASTAT3tdaDL213 Q244
QDNQUINIDINE(9S)-6'-METHOXYCINCHONAN-9-OL4wnuAL213 Q244
QDNQUINIDINE(9S)-6'-METHOXYCINCHONAN-9-OL4wnuBL213 Q244
QDNQUINIDINE(9S)-6'-METHOXYCINCHONAN-9-OL4wnuCL213 Q244
QDNQUINIDINE(9S)-6'-METHOXYCINCHONAN-9-OL4wnuDL213 Q244
RTZ10-{2-[(2R)-1-METHYLPIPERIDIN-2-YL]ETHYL}-2- (METHYLSULFANYL)-10H-PHENOTHIAZINE4wnwAL213 Q244
SI5(4AR,6R,8AS)-8A-(2,4-DIFLUOROPHENYL)-6-(1-METHYL-1H- PYRAZOL-4-YL)-4,4A,5,6,8,8A-HEXAHYDROPYRANO[3,4-D][1, 3]THIAZIN-2-AMINE4xryAL213 Q244
SI5(4AR,6R,8AS)-8A-(2,4-DIFLUOROPHENYL)-6-(1-METHYL-1H- PYRAZOL-4-YL)-4,4A,5,6,8,8A-HEXAHYDROPYRANO[3,4-D][1, 3]THIAZIN-2-AMINE4xryBL213 Q244
SI5(4AR,6R,8AS)-8A-(2,4-DIFLUOROPHENYL)-6-(1-METHYL-1H- PYRAZOL-4-YL)-4,4A,5,6,8,8A-HEXAHYDROPYRANO[3,4-D][1, 3]THIAZIN-2-AMINE4xryCL213 Q244
SI5(4AR,6R,8AS)-8A-(2,4-DIFLUOROPHENYL)-6-(1-METHYL-1H- PYRAZOL-4-YL)-4,4A,5,6,8,8A-HEXAHYDROPYRANO[3,4-D][1, 3]THIAZIN-2-AMINE4xryDL213 Q244
SI6(4AR,6R,8AS)-8A-(2,4-DIFLUOROPHENYL)-6-(1H-PYRAZOL-4- YL)-4,4A,5,6,8,8A-HEXAHYDROPYRANO[3,4-D][1,3]THIAZIN- 2-AMINE4xrzAL213 Q244
AJNAJMALICINEMETHYL (19ALPHA)-19-METHYL-16,17-DIDEHYDRO-18- OXAYOHIMBAN-16-CARBOXYLATE4wntAL213 Q244 I297
AJNAJMALICINEMETHYL (19ALPHA)-19-METHYL-16,17-DIDEHYDRO-18- OXAYOHIMBAN-16-CARBOXYLATE4wntBL213 Q244 I297
RTZ10-{2-[(2R)-1-METHYLPIPERIDIN-2-YL]ETHYL}-2- (METHYLSULFANYL)-10H-PHENOTHIAZINE4wnwBL213 Q244 I297
PN0PRINOMASTAT3tdaAQ244
PN0PRINOMASTAT3tdaBQ244 I297
PN0PRINOMASTAT3tdaCQ244 I297
HEMHEME B2f9qBW128
HEMHEME B3qm4AW128
HEMHEME B3qm4BW128
HEMHEME B3tbgAW128
HEMHEME B3tbgBW128
HEMHEME B3tbgCW128
HEMHEME B3tbgDW128
HEMHEME B3tdaAW128
HEMHEME B3tdaBW128
HEMHEME B3tdaCW128
HEMHEME B3tdaDW128
HEMHEME B4wntAW128
HEMHEME B4wnuAW128
HEMHEME B4wnvAW128
HEMHEME B4wnvBW128
HEMHEME B4wnwBW128
HEMHEME B4xryBW128
HEMHEME B2f9qAW128 I186
HEMHEME B2f9qCW128 I186
HEMHEME B2f9qDW128 I186
HEMHEME B4wntBW128 I186
HEMHEME B4wnuBW128 I186
HEMHEME B4wnuCW128 I186
HEMHEME B4wnuDW128 I186
HEMHEME B4wnvCW128 I186
HEMHEME B4wnvDW128 I186
HEMHEME B4wnwAW128 I186
HEMHEME B4xryAW128 I186
HEMHEME B4xryCW128 I186
HEMHEME B4xryDW128 I186
HEMHEME B4xrzAW128 I186
HEMHEME B4xrzBW128 I186
HEMHEME B4xrzCW128 I186
HEMHEME B4xrzDW128 I186


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Conservation information for LBS of 101929829
Multiple alignments for P10635 in multiple species
LBSAA sequence# speciesSpecies
A209RLLDLAQEGLK2Homo sapiens, Pan troglodytes
A209KVLKILKESMG1Rattus norvegicus
A300LRIVVADLFSA2Homo sapiens, Pan troglodytes
A300LRLVVNDLFGA1Rattus norvegicus
A305ADLFSAGMVTT1Homo sapiens
A305NDLFGAGMVTT1Rattus norvegicus
A305ADLFSAGIVTT1Pan troglodytes
A449LGEPLARMELF3Homo sapiens, Rattus norvegicus, Pan troglodytes
C191IASLTCGRRFE2Homo sapiens, Pan troglodytes
C191IASLIYARRFD1Rattus norvegicus
C443AGRRACLGEPL3Homo sapiens, Rattus norvegicus, Pan troglodytes
D270AQPPRDLTEAF2Homo sapiens, Pan troglodytes
D270DQPPRDLTDAF1Rattus norvegicus
D301RIVVADLFSAG2Homo sapiens, Pan troglodytes
D301RLVVNDLFGAG1Rattus norvegicus
D422PEHFLDAQGHF2Homo sapiens, Pan troglodytes
D422PEHFLDAQGNF1Rattus norvegicus
E216EGLKEESGFLR2Homo sapiens, Pan troglodytes
E216ESMGEQTGLFP1Rattus norvegicus
E222SGFLREVLNAV1Homo sapiens
E222TGLFPEVLNMF1Rattus norvegicus
E222SGFLREVLNAI1Pan troglodytes
E273PRDLTEAFLAE2Homo sapiens, Pan troglodytes
E273PRDLTDAFLAE1Rattus norvegicus
E452PLARMELFLFF3Homo sapiens, Rattus norvegicus, Pan troglodytes
F112TQILGFGPRSQ2Homo sapiens, Pan troglodytes
F112FQHIGYGHKAK1Rattus norvegicus
F120RSQGVFLARYG2Homo sapiens, Pan troglodytes
F120KAKGVVLAPYG1Rattus norvegicus
F247RFQKAFLTQLD2Homo sapiens, Pan troglodytes
F247PGQKTFLTMVD1Rattus norvegicus
F436EAFLPFSAGRR2Homo sapiens, Pan troglodytes
F436EAFMPFSAGRR1Rattus norvegicus
F481SHHGVFAFLVS1Homo sapiens
F481SDYGVFAFLLS1Rattus norvegicus
F481SHHGVFAFLVT1Pan troglodytes
F483HGVFAFLVSPS1Homo sapiens
F483YGVFAFLLSPS1Rattus norvegicus
F483HGVFAFLVTPS1Pan troglodytes
F51LLHVDFQNTPY2Homo sapiens, Pan troglodytes
F51LLQVDLCNMPY1Rattus norvegicus
G212DLAQEGLKEES2Homo sapiens, Pan troglodytes
G212KILKESMGEQT1Rattus norvegicus
G306DLFSAGMVTTS1Homo sapiens
G306DLFGAGMVTTS1Rattus norvegicus
G306DLFSAGIVTTS1Pan troglodytes
G373DIVPLGVTHMT2Homo sapiens, Pan troglodytes
G373DIVPMNLPHKT1Rattus norvegicus
G445RRACLGEPLAR3Homo sapiens, Rattus norvegicus, Pan troglodytes
H258ELLTEHRMTWD2Homo sapiens, Pan troglodytes
H258NLVTEHKKTWD1Rattus norvegicus
H324LLMILHPDVQR2Homo sapiens, Pan troglodytes
H324LLMILHPDVQC1Rattus norvegicus
H376PLGVTHMTSRD2Homo sapiens, Pan troglodytes
H376PMNLPHKTSRD1Rattus norvegicus
H426LDAQGHFVKPE2Homo sapiens, Pan troglodytes
H426LDAQGNFVKHE1Rattus norvegicus
H463TSLLQHFSFSV2Homo sapiens, Pan troglodytes
H463TCLLQRFSFSV1Rattus norvegicus
H477QPRPSHHGVFA2Homo sapiens, Pan troglodytes
H477QPRPSDYGVFA1Rattus norvegicus
I186AVSNVIASLTC2Homo sapiens, Pan troglodytes
I186AVCNVIASLIY1Rattus norvegicus
I297DENLRIVVADL2Homo sapiens, Pan troglodytes
I297DANLRLVVNDL1Rattus norvegicus
I369QRFGDIVPLGV2Homo sapiens, Pan troglodytes
I369QRFADIVPMNL1Rattus norvegicus
I396KGTTLITNLSS1Homo sapiens
I396KGTTLIPNLSS1Rattus norvegicus
I396KGTTLFTNLSS1Pan troglodytes
L110PITQILGFGPR2Homo sapiens, Pan troglodytes
L110PIFQHIGYGHK1Rattus norvegicus
L121SQGVFLARYGP2Homo sapiens, Pan troglodytes
L121AKGVVLAPYGP1Rattus norvegicus
L208LRLLDLAQEGL2Homo sapiens, Pan troglodytes
L208IKVLKILKESM1Rattus norvegicus
L213LAQEGLKEESG2Homo sapiens, Pan troglodytes
L213ILKESMGEQTG1Rattus norvegicus
L302IVVADLFSAGM1Homo sapiens
L302LVVNDLFGAGM1Rattus norvegicus
L302IVVADLFSAGI1Pan troglodytes
L372GDIVPLGVTHM2Homo sapiens, Pan troglodytes
L372ADIVPMNLPHK1Rattus norvegicus
L399TLITNLSSVLK1Homo sapiens
L399TLIPNLSSVLK1Rattus norvegicus
L399TLFTNLSSVLK1Pan troglodytes
L444GRRACLGEPLA3Homo sapiens, Rattus norvegicus, Pan troglodytes
L448CLGEPLARMEL3Homo sapiens, Rattus norvegicus, Pan troglodytes
L484GVFAFLVSPSP1Homo sapiens
L484GVFAFLLSPSP1Rattus norvegicus
L484GVFAFLVTPSP1Pan troglodytes
L73VFSLQLAWTPV2Homo sapiens, Pan troglodytes
L73VFSLQMGWKPV1Rattus norvegicus
P435PEAFLPFSAGR2Homo sapiens, Pan troglodytes
P435HEAFMPFSAGR1Rattus norvegicus
Q244KVLRFQKAFLT2Homo sapiens, Pan troglodytes
Q244KVFPGQKTFLT1Rattus norvegicus
Q341DDVIGQVRRPE2Homo sapiens, Pan troglodytes
Q341DEVIGQVRHPE1Rattus norvegicus
Q364VIHEVQRFGDI2Homo sapiens, Pan troglodytes
Q364VIHEVQRFADI1Rattus norvegicus
R101EDTADRPPVPI2Homo sapiens, Pan troglodytes
R101EDTADRPEMPI1Rattus norvegicus
R132AWREQRRFSVS2Homo sapiens, Pan troglodytes
R132EWREQRRFSVS1Rattus norvegicus
R441FSAGRRACLGE3Homo sapiens, Rattus norvegicus, Pan troglodytes
S304VADLFSAGMVT1Homo sapiens
S304VNDLFGAGMVT1Rattus norvegicus
S304VADLFSAGIVT1Pan troglodytes
S437AFLPFSAGRRA2Homo sapiens, Pan troglodytes
S437AFMPFSAGRRA1Rattus norvegicus
T309SAGMVTTSTTL1Homo sapiens
T309GAGMVTTSITL1Rattus norvegicus
T309SAGIVTTSTTL1Pan troglodytes
T310AGMVTTSTTLA1Homo sapiens
T310AGMVTTSITLT1Rattus norvegicus
T310AGIVTTSTTLA1Pan troglodytes
T313VTTSTTLAWGL2Homo sapiens, Pan troglodytes
T313VTTSITLTWAL1Rattus norvegicus
T375VPLGVTHMTSR2Homo sapiens, Pan troglodytes
T375VPMNLPHKTSR1Rattus norvegicus
T54VDFQNTPYCFD2Homo sapiens, Pan troglodytes
T54VDLCNMPYSMY1Rattus norvegicus
T76LQLAWTPVVVL2Homo sapiens, Pan troglodytes
T76LQMGWKPVVVI1Rattus norvegicus
V119PRSQGVFLARY2Homo sapiens, Pan troglodytes
V119HKAKGVVLAPY1Rattus norvegicus
V308FSAGMVTTSTT1Homo sapiens
V308FGAGMVTTSIT1Rattus norvegicus
V308FSAGIVTTSTT1Pan troglodytes
V370RFGDIVPLGVT2Homo sapiens, Pan troglodytes
V370RFADIVPMNLP1Rattus norvegicus
V374IVPLGVTHMTS2Homo sapiens, Pan troglodytes
V374IVPMNLPHKTS1Rattus norvegicus
V78LAWTPVVVLNG2Homo sapiens, Pan troglodytes
V78MGWKPVVVING1Rattus norvegicus
W128RYGPAWREQRR2Homo sapiens, Pan troglodytes
W128PYGPEWREQRR1Rattus norvegicus


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