mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 NOTUM
Gene summary
Basic gene Info.Gene symbolNOTUM
Gene namenotum pectinacetylesterase homolog (Drosophila)
Synonyms-
CytomapUCSC genome browser: 17q25.3
Type of geneprotein-coding
RefGenesNM_178493.5,
Descriptionprotein notum homolog
Modification date20141207
dbXrefs MIM : 609847
HGNC : HGNC
Ensembl : ENSG00000185269
HPRD : 14073
Vega : OTTHUMG00000154416
ProteinUniProt: Q6P988
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_NOTUM
BioGPS: 147111
PathwayNCI Pathway Interaction Database: NOTUM
KEGG: NOTUM
REACTOME: NOTUM
Pathway Commons: NOTUM
ContextiHOP: NOTUM
ligand binding site mutation search in PubMed: NOTUM
UCL Cancer Institute: NOTUM
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

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 NOTUM
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
 : non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
A233A233TBRCA1
E304R305CCOAD1
R409R409QLUSC1
Q258A256DLUSC1
A233S232RLUSC1
P287A286VSTAD1
I291R293HSTAD1
D415W414LUCEC1
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 NOTUM
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
A233S232R0.26162389
E304R305C-1.3521911
D415W414L-0.88461284
P287A286V-0.70070678
Q258A256D-0.62124264
I291R293H-0.61862946
A233A233T-0.60717261
R409R409Q-0.27840146
(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 NOTUM from PDB

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Differential gene expression and gene-gene network for NOTUM
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 NOTUM and the right PPI network was created from samples without mutations in the LBS of NOTUM. 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 NOTUM
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 NOTUM
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 NOTUM go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
MYZMYRISTOLEIC ACIDZ-TETRADEC-9-ENOIC ACID4uzlBA233 I291
MYZMYRISTOLEIC ACIDZ-TETRADEC-9-ENOIC ACID4uzlAA233 P287 I291
SCRSUCROSE OCTASULFATE4uz6AD415
IODIODIDE4uyuBE304
SCRSUCROSE OCTASULFATE4uz6BQ258 D415
PO4PHOSPHATE ION4uzaAR409


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Conservation information for LBS of NOTUM
Multiple alignments for Q6P988 in multiple species
LBSAA sequence# speciesSpecies
A175PDFYNWNRIKV2Arabidopsis thaliana, Arabidopsis thaliana
A175PHWWNANMVFI2Danio rerio, Mus musculus
A175PYWWNANMVFI1Homo sapiens
A175PYWHNANHVLI1Drosophila melanogaster
A233LAGSSAGGTGV3Homo sapiens, Danio rerio, Mus musculus
A233LSGCSAGALAA2Arabidopsis thaliana, Arabidopsis thaliana
A233LVGSSAGGMGV1Drosophila melanogaster
A342WLFDEAQLT--3Homo sapiens, Danio rerio, Mus musculus
A342AAFDSWQIKNV2Arabidopsis thaliana, Arabidopsis thaliana
A342WLFDEAQMR--1Drosophila melanogaster
C432--LKGCPVHLV1Homo sapiens
C432--YGRSAFQKI1Arabidopsis thaliana
C432--FERSTFQNV1Arabidopsis thaliana
C432RVPEKCGLRLL1Drosophila melanogaster
C432--PKGCPVHLI1Danio rerio
C432--MKGCPFHLV1Mus musculus
D243VLLNVDRVAEQ1Homo sapiens
D243AILHCDTFRAI1Arabidopsis thaliana
D243AILHCDQFKST1Arabidopsis thaliana
D243VMLNLDRIRDF1Drosophila melanogaster
D243VLLNVDSVSEL1Danio rerio
D243VLLNVDRVAEL1Mus musculus
D415ALHCWDRSL--2Homo sapiens, Danio rerio
D415AVGNW---F--1Arabidopsis thaliana
D415AVGDW---F--1Arabidopsis thaliana
D415ALRCWEHSTRS1Drosophila melanogaster
D415ALHCWDRSF--1Mus musculus
E113GYYLKESKGS-2Danio rerio, Mus musculus
E113GYYLKESRGS-1Homo sapiens
E113AYHFDKGFGSG1Arabidopsis thaliana
E113AYHFDKGSGSG1Arabidopsis thaliana
E113GFYLRKHPSS-1Drosophila melanogaster
E247VDRVAEQLEKL1Homo sapiens
E247CDTFRAILPR-1Arabidopsis thaliana
E247CDQFKSTLPK-1Arabidopsis thaliana
E247LDRIRDFLVNE1Drosophila melanogaster
E247VDSVSELLEEL1Danio rerio
E247VDRVAELLEEL1Mus musculus
E304NGVVPERCRRQ1Homo sapiens
E304---LPVSCTSK1Arabidopsis thaliana
E304---LPASCTSS1Arabidopsis thaliana
E304QGLLPEECTKS1Drosophila melanogaster
E304GGVVPERCRQA1Danio rerio
E304SGMVPERCQRQ1Mus musculus
E390CLSH-EIIIRS2Homo sapiens, Mus musculus
E390CHAHCQGGSAA2Arabidopsis thaliana, Arabidopsis thaliana
E390CIGH-GVLFKR1Drosophila melanogaster
E390CLSH-EFITRN1Danio rerio
F268ADSGWFLDNKQ2Homo sapiens, Mus musculus
F268SDAGYFIHGKD2Arabidopsis thaliana, Arabidopsis thaliana
F268SDSGWFLDREP1Drosophila melanogaster
F268SDSGWFLDNKQ1Danio rerio
G126LLFLEGGWYCF2Homo sapiens, Mus musculus
G126IVHMEGGGWCT2Arabidopsis thaliana, Arabidopsis thaliana
G126IVLLEGGWHCF1Drosophila melanogaster
G126LIFLEGGWYCF1Danio rerio
G127LFLEGGWYCFN2Homo sapiens, Mus musculus
G127VHMEGGGWCTD2Arabidopsis thaliana, Arabidopsis thaliana
G127VLLEGGWHCFD1Drosophila melanogaster
G127IFLEGGWYCFN1Danio rerio
H389PACLSH-EIII2Homo sapiens, Mus musculus
H389DSCHAHCQGGS2Arabidopsis thaliana, Arabidopsis thaliana
H389PSCIGH-GVLF1Drosophila melanogaster
H389PACLSH-EFIT1Danio rerio
H412LPRALHCWDRS3Homo sapiens, Danio rerio, Mus musculus
H412IAKAVGNW---1Arabidopsis thaliana
H412MAKAVGDW---1Arabidopsis thaliana
H412LPSALRCWEHS1Drosophila melanogaster
I291APTEAIRRGIR1Homo sapiens
I291SKVVALHGSAK1Arabidopsis thaliana
I291AKVVATHGSAK1Arabidopsis thaliana
I291ASNEAVRQGWK1Drosophila melanogaster
I291APTEVIKRGIK1Danio rerio
I291APTDAIRRGIR1Mus musculus
K112AGYYLKESKGS2Danio rerio, Mus musculus
K112AGYYLKESRGS1Homo sapiens
K112PAYHFDKGFGS1Arabidopsis thaliana
K112PAYHFDKGSGS1Arabidopsis thaliana
K112AGFYLRKHPSS1Drosophila melanogaster
K224GLSGAK--VLL2Homo sapiens, Mus musculus
K224GMKNAQ--NAI1Arabidopsis thaliana
K224GMSNAQ--NAI1Arabidopsis thaliana
K224GLGRVPGGELM1Drosophila melanogaster
K224GLDNAK--ILL1Danio rerio
L252EQLEKLGYPAI1Homo sapiens
L252AILPR----TA1Arabidopsis thaliana
L252STLPK----TA1Arabidopsis thaliana
L252DFLVNEKKLQI1Drosophila melanogaster
L252ELLEELGHTNI1Danio rerio
L252ELLEELGYPSI1Mus musculus
N174NPDFYNWNRIK2Arabidopsis thaliana, Arabidopsis thaliana
N174NPHWWNANMVF2Danio rerio, Mus musculus
N174NPYWWNANMVF1Homo sapiens
N174NPYWHNANHVL1Drosophila melanogaster
P287TITCAPTEAIR1Homo sapiens
P287S-YYSKVVALH1Arabidopsis thaliana
P287S-YYAKVVATH1Arabidopsis thaliana
P287--AVASNEAVR1Drosophila melanogaster
P287TINCAPTEVIK1Danio rerio
P287TINCAPTDAIR1Mus musculus
P303WNGVVPERCRR1Homo sapiens
P303----LPVSCTS1Arabidopsis thaliana
P303----LPASCTS1Arabidopsis thaliana
P303WQGLLPEECTK1Drosophila melanogaster
P303WGGVVPERCRQ1Danio rerio
P303WSGMVPERCQR1Mus musculus
Q209GALIIQEVVRE1Homo sapiens
Q209GARVWRAVVDD1Arabidopsis thaliana
Q209GARVWRAVIDD1Arabidopsis thaliana
Q209GALILRQVIAE1Drosophila melanogaster
Q209GSLIIKEVVKD1Danio rerio
Q209GSLIIQEVVRE1Mus musculus
Q248DRVAEQLEKLG1Homo sapiens
Q248DTFRAILPR--1Arabidopsis thaliana
Q248DQFKSTLPK--1Arabidopsis thaliana
Q248DRIRDFLVNEK1Drosophila melanogaster
Q248DSVSELLEELG1Danio rerio
Q248DRVAELLEELG1Mus musculus
Q258GYPAIQVRGLA1Homo sapiens
Q258---TASVKCVS1Arabidopsis thaliana
Q258---TAKVKCVS1Arabidopsis thaliana
Q258KKLQITVRGVS1Drosophila melanogaster
Q258GHTNIQVRGLS1Danio rerio
Q258GYPSIQVRGLA1Mus musculus
R115YLKESRGS--R1Homo sapiens
R115HFDKGFGSGVN1Arabidopsis thaliana
R115HFDKGSGSGVN1Arabidopsis thaliana
R115YLRKHPSS--K1Drosophila melanogaster
R115YLKESKGS--K1Danio rerio
R115YLKESKGS--R1Mus musculus
R118RGS--RRWLLF1Homo sapiens
R118FGSGVNNWIVH1Arabidopsis thaliana
R118SGSGVNNWIVH1Arabidopsis thaliana
R118PSS--KKWIVL1Drosophila melanogaster
R118KGS--KRWLIF1Danio rerio
R118KGS--RRWLLF1Mus musculus
R119GS--RRWLLFL2Homo sapiens, Mus musculus
R119GSGVNNWIVHM2Arabidopsis thaliana, Arabidopsis thaliana
R119SS--KKWIVLL1Drosophila melanogaster
R119GS--KRWLIFL1Danio rerio
R213IQEVVRELLGR1Homo sapiens
R213WRAVVDDLMAK1Arabidopsis thaliana
R213WRAVIDDLMAK1Arabidopsis thaliana
R213LRQVIAELIPV1Drosophila melanogaster
R213IKEVVKDLLSK1Danio rerio
R213IQEVVRELLGK1Mus musculus
R244LLNVDRVAEQL1Homo sapiens
R244ILHCDTFRAIL1Arabidopsis thaliana
R244ILHCDQFKSTL1Arabidopsis thaliana
R244MLNLDRIRDFL1Drosophila melanogaster
R244LLNVDSVSELL1Danio rerio
R244LLNVDRVAELL1Mus musculus
R409GTSLPRALHCW3Homo sapiens, Danio rerio, Mus musculus
R409NTRIAKAVGNW1Arabidopsis thaliana
R409NTKMAKAVGDW1Arabidopsis thaliana
R409DISLPSALRCW1Drosophila melanogaster
R416LHCWDRSL---2Homo sapiens, Danio rerio
R416VGNW---F---1Arabidopsis thaliana
R416VGDW---F---1Arabidopsis thaliana
R416LRCWEHSTRSR1Drosophila melanogaster
R416LHCWDRSF---1Mus musculus
R90LNEDLRLHLLL2Homo sapiens, Mus musculus
R90-----------2Arabidopsis thaliana, Arabidopsis thaliana
R90HSRSLKRANLA1Drosophila melanogaster
R90LDYDMKLHFLE1Danio rerio
S117KESRGS--RRW1Homo sapiens
S117DKGFGSGVNNW1Arabidopsis thaliana
S117DKGSGSGVNNW1Arabidopsis thaliana
S117RKHPSS--KKW1Drosophila melanogaster
S117KESKGS--KRW1Danio rerio
S117KESKGS--RRW1Mus musculus
T236SSAGGTGVLLN3Homo sapiens, Danio rerio, Mus musculus
T236CSAGALAAILH2Arabidopsis thaliana, Arabidopsis thaliana
T236SSAGGMGVMLN1Drosophila melanogaster
V187YCSSDVWSGAS3Homo sapiens, Danio rerio, Mus musculus
V187YCDGSSFTGNV1Arabidopsis thaliana
V187YCDGSSFTGDI1Arabidopsis thaliana
V187YCSSDSWSGTR1Drosophila melanogaster
V225GAK--VLLLAG2Homo sapiens, Mus musculus
V225NAQ--NAILSG2Arabidopsis thaliana, Arabidopsis thaliana
V225RVPGGELMLVG1Drosophila melanogaster
V225NAK--ILLLAG1Danio rerio
V346-----VD----4Homo sapiens, Drosophila melanogaster, Danio rerio, Mus musculus
V346LAPTAVDKGKE1Arabidopsis thaliana
V346LAPTSVDKSKA1Arabidopsis thaliana
W128FLEGGWYCFNR2Homo sapiens, Mus musculus
W128HMEGGGWCTDV1Arabidopsis thaliana
W128HMEGGGWCTDI1Arabidopsis thaliana
W128LLEGGWHCFDV1Drosophila melanogaster
W128FLEGGWYCFNK1Danio rerio
Y129LEGGWYCFNRE2Homo sapiens, Mus musculus
Y129MEGGGWCTDVA1Arabidopsis thaliana
Y129MEGGGWCTDIA1Arabidopsis thaliana
Y129LEGGWHCFDVR1Drosophila melanogaster
Y129LEGGWYCFNKE1Danio rerio


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