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 101930400
Gene summary
Basic gene Info.Gene symbol101930400
Gene name
Synonyms
CytomapUCSC genome browser:
Type of gene
RefGenes
Description
Modification date
dbXrefs
ProteinUniProt: P52895
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_101930400
BioGPS: 101930400
PathwayNCI Pathway Interaction Database: 101930400
KEGG: 101930400
REACTOME: 101930400
Pathway Commons: 101930400
ContextiHOP: 101930400
ligand binding site mutation search in PubMed: 101930400
UCL Cancer Institute: 101930400
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 101930400

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 101930400
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
H117P119S-1.1225539
L306R304Q-0.96728319
W86S87G-0.95395708
P17M16V-0.92994972
(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 101930400 from PDB

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Differential gene expression and gene-gene network for 101930400
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 101930400 and the right PPI network was created from samples without mutations in the LBS of 101930400. 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 101930400
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 101930400
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
NutraceuticalDB00157NADHSmall molecule
Approved|investigationalDB01586Ursodeoxycholic acidSmall molecule
ExperimentalDB034612'-Monophosphoadenosine 5'-DiphosphoriboseSmall molecule
ExperimentalDB07768(10ALPHA,13ALPHA,14BETA,17ALPHA)-17-HYDROXYANDROST-4-EN-3-ONESmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of 101930400 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NAPNADP ZWITTERION1xjbAH117
NDPNADPH2hdjBH117
FFATESTOSTERONE2ipjBH117
NAPNADP ZWITTERION4jq2BH117
NAPNADP ZWITTERION4jq3BH117
NAPNADP ZWITTERION4jq4AH117
NAPNADP ZWITTERION4jq4BH117
NAPNADP ZWITTERION4jqaBH117
NAPNADP ZWITTERION4jtqAH117
NAPNADP ZWITTERION4jtqBH117
NAPNADP ZWITTERION4jtrAH117
NAPNADP ZWITTERION4l1wAH117
NAPNADP ZWITTERION4l1wBH117
NAPNADP ZWITTERION4l1xAH117
NAPNADP ZWITTERION4l1xBH117
NAPNADP ZWITTERION1ihiAH117 L306
NAPNADP ZWITTERION1ihiBH117 L306
NAPNADP ZWITTERION1j96AH117 L306
NAPNADP ZWITTERION1j96BH117 L306
NAPNADP ZWITTERION1xjbBH117 L306
NDPNADPH2hdjAH117 L306
NAPNADP ZWITTERION2ipjAH117 L306
NAPNADP ZWITTERION2ipjBH117 L306
NAPNADP ZWITTERION4jq1AH117 L306
NAPNADP ZWITTERION4jq1BH117 L306
NAPNADP ZWITTERION4jq2AH117 L306
NAPNADP ZWITTERION4jq3AH117 L306
IMNINDOMETHACIN4jq4AH117 L306
IMNINDOMETHACIN4jq4BH117 L306
NAPNADP ZWITTERION4jqaAH117 L306
NAPNADP ZWITTERION4jtrBH117 L306
TESTESTOSTERONE1j96BL306
STRPROGESTERONE4l1wAL306
ACTACETATE1xjbAP17
IU5ISOURSODEOXYCHOLIC ACID1ihiAW86 H117
IU5ISOURSODEOXYCHOLIC ACID1ihiBW86 H117
NPSNAPROXEN4jq1BW86 H117
ZOMZOMEPIRAC4jq3AW86 H117
ZOMZOMEPIRAC4jq3BW86 H117
ID8MEFENAMIC ACID4jqaAW86 H117
ID8MEFENAMIC ACID4jqaBW86 H117
FLPFLURBIPROFEN4jtqBW86 H117
IBPIBUPROFEN4jtrAW86 H117
IZPLEVIBUPROFEN4jtrBW86 H117
FFATESTOSTERONE2ipjAW86 H117 L306
NPSNAPROXEN4jq1AW86 H117 L306
SUZSULINDAC4jq2AW86 H117 L306
FLPFLURBIPROFEN4jtqAW86 H117 L306
TESTESTOSTERONE1j96AW86 L306
CITCITRIC ACID1xjbAW86 L306


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Conservation information for LBS of 101930400
Multiple alignments for P52895 in multiple species
LBSAA sequence# speciesSpecies
A218LVAYSALGSHR2Homo sapiens, Homo sapiens
A218LVAYGVLGTQR2Mus musculus, Rattus norvegicus
A253HKRTPALIALR2Homo sapiens, Homo sapiens
A253YNRTPALIALR1Mus musculus
A253YNQTPALIALR1Rattus norvegicus
A269GVVVLAKSYNE2Homo sapiens, Homo sapiens
A269GIVVLNTSLKE2Mus musculus, Rattus norvegicus
D50GFHHIDSAHVY1Homo sapiens
D50GFRHIDSAHLY1Homo sapiens
D50GFHHFDSASVY1Mus musculus
D50GFHHFDSAFVY1Rattus norvegicus
E127VKPGEEVIPKD2Homo sapiens, Homo sapiens
E127LKPGEENFPVD1Mus musculus
E127LKPGDENFPVD1Rattus norvegicus
E224LGSHREEPWVD2Homo sapiens, Homo sapiens
E224LGTQRYGGWVD1Mus musculus
E224LGTQRYNGWVD1Rattus norvegicus
F284QNVQVFEFQLT2Homo sapiens, Homo sapiens
F284ENMQVFEFQLS1Mus musculus
F284ENM-----KLS1Rattus norvegicus
G22PVLGFGTYAPA2Homo sapiens, Homo sapiens
G22PVLGFGTALPL1Mus musculus
G22PVLGFGTAMPS1Rattus norvegicus
G220AYSALGSHREE2Homo sapiens, Homo sapiens
G220AYGVLGTQRYG1Mus musculus
G220AYGVLGTQRYN1Rattus norvegicus
G45IAIDAGFHHFD2Mus musculus, Rattus norvegicus
G45LAIEAGFHHID1Homo sapiens
G45LAIEAGFRHID1Homo sapiens
H117DLYLIHFPVSV2Homo sapiens, Homo sapiens
H117DLYLIHYPMAL1Mus musculus
H117DLYLIHFPMAL1Rattus norvegicus
H222SALGSHREEPW2Homo sapiens, Homo sapiens
H222GVLGTQRYGGW1Mus musculus
H222GVLGTQRYNGW1Rattus norvegicus
H47IDAGFHHFDSA2Mus musculus, Rattus norvegicus
H47IEAGFHHIDSA1Homo sapiens
H47IEAGFRHIDSA1Homo sapiens
I129PGEEVIPKDEN2Homo sapiens, Homo sapiens
I129PGEENFPVDEH1Mus musculus
I129PGDENFPVDEH1Rattus norvegicus
K270VVVLAKSYNEQ2Homo sapiens, Homo sapiens
K270IVVLNTSLKEE2Mus musculus, Rattus norvegicus
K84IFYTSKLWSNS1Homo sapiens
K84IFYTSKLWCNS1Homo sapiens
K84IFYTSKVWCTS1Mus musculus
K84IFYTSKLWCTS1Rattus norvegicus
L19HFMPVLGFGTY2Homo sapiens, Homo sapiens
L19NFIPVLGFGTA1Mus musculus
L19HFIPVLGFGTA1Rattus norvegicus
L219VAYSALGSHRE2Homo sapiens, Homo sapiens
L219VAYGVLGTQRY2Mus musculus, Rattus norvegicus
L236NSPVLLEDPVL2Homo sapiens, Homo sapiens
L236NSPVLLDEPVL1Mus musculus
L236NSPVLLNEPVL1Rattus norvegicus
L268RGVVVLAKSYN2Homo sapiens, Homo sapiens
L268RGIVVLNTSLK2Mus musculus, Rattus norvegicus
L306RNVRYLTLDIF2Homo sapiens, Homo sapiens
L306RNMRYIPAAIF1Mus musculus
L306RNLRYIAGGIF1Rattus norvegicus
L308VRYLTLDIFAG2Homo sapiens, Homo sapiens
L308MRYIPAAIFKG1Mus musculus
L308LRYIAGGIFEG1Rattus norvegicus
N167SIGVSNFNRRQ2Homo sapiens, Rattus norvegicus
N167SIGVSNFNHRL1Homo sapiens
N167SIGVSNFNYRQ1Mus musculus
N273LAKSYNEQRIR2Homo sapiens, Homo sapiens
N273LNTSLKEERIK2Mus musculus, Rattus norvegicus
N280QRIRQNVQVFE2Homo sapiens, Homo sapiens
N280ERIKENMQVFE1Mus musculus
N280ERIKENM----1Rattus norvegicus
P17DGHFMPVLGFG2Homo sapiens, Homo sapiens
P17DGNFIPVLGFG1Mus musculus
P17DGHFIPVLGFG1Rattus norvegicus
Q190KPVCNQVECHP3Homo sapiens, Homo sapiens, Mus musculus
Q190KPVCNQVECHL1Rattus norvegicus
Q279EQRIRQNVQVF2Homo sapiens, Homo sapiens
Q279EERIKENMQVF1Mus musculus
Q279EERIKENM---1Rattus norvegicus
Q6MDSKYQCVKLN2Homo sapiens, Homo sapiens
Q6MNSKCHCVILN1Mus musculus
Q6MNSKCHCVKLN1Rattus norvegicus
R276SYNEQRIRQNV2Homo sapiens, Homo sapiens
R276SLKEERIKENM2Mus musculus, Rattus norvegicus
S166KSIGVSNFNRR2Homo sapiens, Rattus norvegicus
S166KSIGVSNFNHR1Homo sapiens
S166KSIGVSNFNYR1Mus musculus
S217VLVAYSALGSH2Homo sapiens, Homo sapiens
S217VLVAYGVLGTQ1Mus musculus
S217ILVAYGVLGTQ1Rattus norvegicus
S221YSALGSHREEP2Homo sapiens, Homo sapiens
S221YGVLGTQRYGG1Mus musculus
S221YGVLGTQRYNG1Rattus norvegicus
S271VVLAKSYNEQR2Homo sapiens, Homo sapiens
S271VVLNTSLKEER2Mus musculus, Rattus norvegicus
T23VLGFGTYAPAE2Homo sapiens, Homo sapiens
T23VLGFGTALPLE1Mus musculus
T23VLGFGTAMPSE1Rattus norvegicus
T307NVRYLTLDIFA2Homo sapiens, Homo sapiens
T307NMRYIPAAIFK1Mus musculus
T307NLRYIAGGIFE1Rattus norvegicus
V128KPGEEVIPKDE2Homo sapiens, Homo sapiens
V128KPGEENFPVDE1Mus musculus
V128KPGDENFPVDE1Rattus norvegicus
V18GHFMPVLGFGT2Homo sapiens, Homo sapiens
V18GNFIPVLGFGT1Mus musculus
V18GHFIPVLGFGT1Rattus norvegicus
V54IDSAHVYNNEE1Homo sapiens
V54IDSAHLYNNEE1Homo sapiens
V54FDSASVYNTED1Mus musculus
V54FDSAFVYNTED1Rattus norvegicus
W227HREEPWVDPNS2Homo sapiens, Homo sapiens
W227QRYGGWVDQNS1Mus musculus
W227QRYNGWVDQNS1Rattus norvegicus
W86YTSKLWSNSHR1Homo sapiens
W86YTSKLWCNSHR1Homo sapiens
W86YTSKVWCTSLH1Mus musculus
W86YTSKLWCTSLH1Rattus norvegicus
Y216IVLVAYSALGS2Homo sapiens, Homo sapiens
Y216IVLVAYGVLGT1Mus musculus
Y216IILVAYGVLGT1Rattus norvegicus
Y24LGFGTYAPAEV2Homo sapiens, Homo sapiens
Y24LGFGTALPLEC1Mus musculus
Y24LGFGTAMPSEL1Rattus norvegicus
Y272VLAKSYNEQRI2Homo sapiens, Homo sapiens
Y272VLNTSLKEERI2Mus musculus, Rattus norvegicus
Y54Homo sapiens, Homo sapiens, Mus musculus, Rattus norvegicus
Y55DSAHVYNNEEQ1Homo sapiens
Y55DSAHLYNNEEQ1Homo sapiens
Y55DSASVYNTEDH1Mus musculus
Y55DSAFVYNTEDH1Rattus norvegicus


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