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 HNMT
Gene summary
Basic gene Info.Gene symbolHNMT
Gene namehistamine N-methyltransferase
SynonymsHMT|HNMT-S1|HNMT-S2
CytomapUCSC genome browser: 2q22.1
Type of geneprotein-coding
RefGenesNM_001024074.2,
NM_001024075.1,NM_006895.2,
Description-
Modification date20141207
dbXrefs MIM : 605238
HGNC : HGNC
Ensembl : ENSG00000150540
HPRD : 05575
Vega : OTTHUMG00000131751
ProteinUniProt: P50135
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_HNMT
BioGPS: 3176
PathwayNCI Pathway Interaction Database: HNMT
KEGG: HNMT
REACTOME: HNMT
Pathway Commons: HNMT
ContextiHOP: HNMT
ligand binding site mutation search in PubMed: HNMT
UCL Cancer Institute: HNMT
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 HNMT
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
L285L285VBLCA1
I142M141ICOAD1
Q197Q197RCOAD1
T245T245SKIRC1
Y15G13WLUAD1
Y147Y147CLUAD1
I142M141ILUSC1
K184K184ESTAD1
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 HNMT
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
L285L285V-1.5264008
Y147Y147C-1.2188301
Q197Q197R-0.9056672
K184K184E-0.69525169
Y15G13W-0.58466999
T245T245S-0.56305146
I142M141I-0.39019839
(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 HNMT from PDB

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Differential gene expression and gene-gene network for HNMT
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 HNMT and the right PPI network was created from samples without mutations in the LBS of HNMT. 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 HNMT
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0004096Asthma7Biomarker, GeneticVariation
umls:C0042109Urticaria3Biomarker, GeneticVariation
umls:C0035455Rhinitis1Biomarker
umls:C0013182Drug Hypersensitivity1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for HNMT
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ApprovedDB00613AmodiaquineSmall molecule
ExperimentalDB01752S-Adenosyl-L-HomocysteineSmall molecule
ExperimentalDB04655METOPRINE, METHODICHLOROPHENSmall molecule
ExperimentalDB071064-(DIMETHYLAMINO)BUTYL IMIDOTHIOCARBAMATESmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of HNMT go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
4DI4-(DIMETHYLAMINO)BUTYL CARBAMIMIDOTHIOATE2aovBI142
SAHS-ADENOSYL-L-HOMOCYSTEINE1jqdAI142 Y147
SAHS-ADENOSYL-L-HOMOCYSTEINE1jqdBI142 Y147
SAHS-ADENOSYL-L-HOMOCYSTEINE1jqeAI142 Y147
SAHS-ADENOSYL-L-HOMOCYSTEINE1jqeBI142 Y147
SAHS-ADENOSYL-L-HOMOCYSTEINE2aotAI142 Y147
SAHS-ADENOSYL-L-HOMOCYSTEINE2aotBI142 Y147
CQAAMODIAQUINE2aouAK184 T245
HSMHISTAMINE1jqdBL285
CQAAMODIAQUINE2aouBT245
THATACRINE2aowAY147
THATACRINE2aowBY147
THATACRINE2aoxAY147
THATACRINE2aoxBY147
2PMDIPHENHYDRAMINE2aotAY147 Q197
C2M5-(3,4-DICHLOROPHENYL)-6-METHYLPYRIMIDINE-2,4-DIAMINE2aovAY147 Q197
CQAAMODIAQUINE2aouBY15
4DI4-(DIMETHYLAMINO)BUTYL CARBAMIMIDOTHIOATE2aovAY15
QUNQUINACRINE1jqeAY15 Y147
CQAAMODIAQUINE2aouAY15 Y147
2PMDIPHENHYDRAMINE2aotBY15 Y147 Q197
C2M5-(3,4-DICHLOROPHENYL)-6-METHYLPYRIMIDINE-2,4-DIAMINE2aovBY15 Y147 Q197


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Conservation information for LBS of HNMT
Multiple alignments for P50135 in multiple species
LBSAA sequence# speciesSpecies
C196PRDDLCQYVTS2Mus musculus, Rattus norvegicus
C196PQDDLCQYITS1Homo sapiens
C196CYTEMSQCVTI1Danio rerio
C196PLNDLCLYVTA1Xenopus tropicalis
C196PRNDLCQYVTS1Bos taurus
D180GTSGWEKLWKK2Mus musculus, Rattus norvegicus
D180GSSGWDKLWKK1Homo sapiens
D180GESGWGKLWTT1Danio rerio
D180GNSGWSMLWKK1Xenopus tropicalis
D180GASSWQKLWEK1Bos taurus
D193SRFPQDDLCQY1Homo sapiens
D193KQLCYTEMSQC1Danio rerio
D193PQLPLNDLCLY1Xenopus tropicalis
D193SRLPRDDLCQY1Mus musculus
D193FRLPRDDLCQY1Rattus norvegicus
D193SRLPRNDLCQY1Bos taurus
E246WDFLTETCNFN2Homo sapiens, Bos taurus
E246LDFLTEVKEFS1Danio rerio
E246LDFLTETCDFK1Xenopus tropicalis
E246WDFLTETCNFS1Mus musculus
E246WDFLTETCNFI1Rattus norvegicus
E28LNNSTEHQCMQ2Mus musculus, Rattus norvegicus
E28LNHSTEHQCMQ1Homo sapiens
E28LERSSEHQCMQ1Danio rerio
E28LLNSTEHQCMQ1Xenopus tropicalis
E28LSNSTEHQCMQ1Bos taurus
E89NNEVVEPSAEQ2Homo sapiens, Mus musculus
E89DNEVVEPSNDM1Danio rerio
E89SNQIVEPSAEQ1Xenopus tropicalis
E89NNEVVEPNAEQ1Rattus norvegicus
E89INEVVEPSAEQ1Bos taurus
F19RYVESFRRFLN2Mus musculus, Rattus norvegicus
F19KYVESFRRFLN1Homo sapiens
F19RYLKSFELFLE1Danio rerio
F19RYVESFRLFLL1Xenopus tropicalis
F19RYVESFRRFLS1Bos taurus
F190KYGSRFPQDDL1Homo sapiens
F190TFRKQLCYTEM1Danio rerio
F190KHGPQLPLNDL1Xenopus tropicalis
F190KYGSRLPRDDL1Mus musculus
F190KYGFRLPRDDL1Rattus norvegicus
F190KYGSRLPRNDL1Bos taurus
F22ESFRRFLNNST2Mus musculus, Rattus norvegicus
F22ESFRRFLNHST1Homo sapiens
F22KSFELFLERSS1Danio rerio
F22ESFRLFLLNST1Xenopus tropicalis
F22ESFRRFLSNST1Bos taurus
F243DLLWDFLTETC4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
F243ELLLDFLTEVK1Danio rerio
F243EMLLDFLTETC1Xenopus tropicalis
F9SMRSLFSDHGK1Homo sapiens
F9PFKTLVEDYPR1Danio rerio
F9GLRSLLSDHSR1Xenopus tropicalis
F9CMRSLFSDQGR1Mus musculus
F9FMRSLFSDHSR1Rattus norvegicus
F9SMRSLFTDHSR1Bos taurus
G187LWKKYGSRFPQ1Homo sapiens
G187LWTTFRKQLCY1Danio rerio
G187LWKKHGPQLPL1Xenopus tropicalis
G187LWKKYGSRLPR1Mus musculus
G187LWKKYGFRLPR1Rattus norvegicus
G187LWEKYGSRLPR1Bos taurus
G60KILSIGGGAGE3Homo sapiens, Rattus norvegicus, Bos taurus
G60NVMGVGSGAGD1Danio rerio
G60DILGIGSGSGE1Xenopus tropicalis
G60KILSVGGGAGE1Mus musculus
G61ILSIGGGAGEI3Homo sapiens, Rattus norvegicus, Bos taurus
G61VMGVGSGAGDI1Danio rerio
G61ILGIGSGSGEI1Xenopus tropicalis
G61ILSVGGGAGEV1Mus musculus
G62LSIGGGAGEID3Homo sapiens, Rattus norvegicus, Bos taurus
G62MGVGSGAGDID1Danio rerio
G62LGIGSGSGEID1Xenopus tropicalis
G62LSVGGGAGEVD1Mus musculus
H29NNSTEHQCMQE2Mus musculus, Rattus norvegicus
H29NHSTEHQCMQE1Homo sapiens
H29ERSSEHQCMQD1Danio rerio
H29LNSTEHQCMQR1Xenopus tropicalis
H29SNSTEHQCMQE1Bos taurus
I142DFIHMIQMLYY6Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Bos taurus
I66GGAGEIDLQIL3Homo sapiens, Rattus norvegicus, Bos taurus
I66SGAGDIDLEML1Danio rerio
I66SGSGEIDLQMI1Xenopus tropicalis
I66GGAGEVDLQIL1Mus musculus
K184WDKLWKKYGSR1Homo sapiens
K184WGKLWTTFRKQ1Danio rerio
K184WSMLWKKHGPQ1Xenopus tropicalis
K184WEKLWKKYGSR1Mus musculus
K184WEKLWKKYGFR1Rattus norvegicus
K184WQKLWEKYGSR1Bos taurus
L195LPRDDLCQYVT2Mus musculus, Rattus norvegicus
L195FPQDDLCQYIT1Homo sapiens
L195LCYTEMSQCVT1Danio rerio
L195LPLNDLCLYVT1Xenopus tropicalis
L195LPRNDLCQYVT1Bos taurus
L285LFNNNLSFIVV2Mus musculus, Rattus norvegicus
L285LFNNTLSFIVI1Homo sapiens
L285IFNNNLEVLVI1Danio rerio
L285IFNNNLSVIVV1Xenopus tropicalis
L285LFNNSLSFIVV1Bos taurus
M144IHMIQMLYYVK6Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Bos taurus
N283KVLFNNNLSFI2Mus musculus, Rattus norvegicus
N283KVLFNNTLSFI1Homo sapiens
N283RIIFNNNLEVL1Danio rerio
N283KVIFNNNLSVI1Xenopus tropicalis
N283KVLFNNSLSFI1Bos taurus
P191YGSRFPQDDLC1Homo sapiens
P191FRKQLCYTEMS1Danio rerio
P191HGPQLPLNDLC1Xenopus tropicalis
P191YGSRLPRDDLC1Mus musculus
P191YGFRLPRDDLC1Rattus norvegicus
P191YGSRLPRNDLC1Bos taurus
P90NEVVEPSAEQI3Homo sapiens, Mus musculus, Bos taurus
P90NEVVEPSNDML1Danio rerio
P90NQIVEPSAEQI1Xenopus tropicalis
P90NEVVEPNAEQI1Rattus norvegicus
Q143FIHMIQMLYYV6Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Bos taurus
Q197RDDLCQYVTSS2Mus musculus, Rattus norvegicus
Q197QDDLCQYITSD1Homo sapiens
Q197YTEMSQCVTIG1Danio rerio
Q197LNDLCLYVTAG1Xenopus tropicalis
Q197RNDLCQYVTSS1Bos taurus
Q94EPSAEQIAKYK1Homo sapiens
Q94EPSNDMLYKYK1Danio rerio
Q94EPSAEQIIGYK1Xenopus tropicalis
Q94EPSAEQIVKYK1Mus musculus
Q94EPNAEQIVKYK1Rattus norvegicus
Q94EPSAEQITKYK1Bos taurus
R6MASSMRSLFSD1Homo sapiens
R6MAAPFKTLVED1Danio rerio
R6MDSGLRSLLSD1Xenopus tropicalis
R6MASCMRSLFSD1Mus musculus
R6MASFMRSLFSD1Rattus norvegicus
R6MASSMRSLFTD1Bos taurus
S120WHKETSSEYQK2Mus musculus, Rattus norvegicus
S120WHKETSSEYQS1Homo sapiens
S120WNKMTASEFEK1Danio rerio
S120WHRQTSSEYER1Xenopus tropicalis
S120WHKETSSEYQN1Bos taurus
S7ASSMRSLFSDH1Homo sapiens
S7AAPFKTLVEDY1Danio rerio
S7DSGLRSLLSDH1Xenopus tropicalis
S7ASCMRSLFSDQ1Mus musculus
S7ASFMRSLFSDH1Rattus norvegicus
S7ASSMRSLFTDH1Bos taurus
S91EVVEPSAEQIA1Homo sapiens
S91EVVEPSNDMLY1Danio rerio
S91QIVEPSAEQII1Xenopus tropicalis
S91EVVEPSAEQIV1Mus musculus
S91EVVEPNAEQIV1Rattus norvegicus
S91EVVEPSAEQIT1Bos taurus
T119AWHKETSSEYQ3Homo sapiens, Rattus norvegicus, Bos taurus
T119TWNKMTASEFE1Danio rerio
T119SWHRQTSSEYE1Xenopus tropicalis
T119SWHKETSSEYQ1Mus musculus
T245LWDFLTETCNF4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
T245LLDFLTEVKEF1Danio rerio
T245LLDFLTETCDF1Xenopus tropicalis
T247DFLTETCNFNA1Homo sapiens
T247DFLTEVKEFSK1Danio rerio
T247DFLTETCDFKR1Xenopus tropicalis
T247DFLTETCNFSK1Mus musculus
T247DFLTETCNFIK1Rattus norvegicus
T247DFLTETCNFNT1Bos taurus
V16DHSRYVESFRR2Rattus norvegicus, Bos taurus
V16DHGKYVESFRR1Homo sapiens
V16DYPRYLKSFEL1Danio rerio
V16DHSRYVESFRL1Xenopus tropicalis
V16DQGRYVESFRR1Mus musculus
V173ILIILVSGTSG2Mus musculus, Rattus norvegicus
V173MLIIVVSGSSG1Homo sapiens
V173LLIILVSGESG1Danio rerio
V173LLIILVSGNSG1Xenopus tropicalis
V173ILIIIVSGASS1Bos taurus
W179SGTSGWEKLWK2Mus musculus, Rattus norvegicus
W179SGSSGWDKLWK1Homo sapiens
W179SGESGWGKLWT1Danio rerio
W179SGNSGWSMLWK1Xenopus tropicalis
W179SGASSWQKLWE1Bos taurus
W183GWDKLWKKYGS1Homo sapiens
W183GWGKLWTTFRK1Danio rerio
W183GWSMLWKKHGP1Xenopus tropicalis
W183GWEKLWKKYGS1Mus musculus
W183GWEKLWKKYGF1Rattus norvegicus
W183SWQKLWEKYGS1Bos taurus
Y146MIQMLYYVKDI4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
Y146MIQMLYYVKDP1Danio rerio
Y146MIQMLYYVKDV1Xenopus tropicalis
Y147IQMLYYVKDIP4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
Y147IQMLYYVKDPN1Danio rerio
Y147IQMLYYVKDVP1Xenopus tropicalis
Y15SDHSRYVESFR2Xenopus tropicalis, Rattus norvegicus
Y15SDHGKYVESFR1Homo sapiens
Y15EDYPRYLKSFE1Danio rerio
Y15SDQGRYVESFR1Mus musculus
Y15TDHSRYVESFR1Bos taurus
Y198DDLCQYVTSSD2Mus musculus, Rattus norvegicus
Y198DDLCQYITSDD1Homo sapiens
Y198TEMSQCVTIGE1Danio rerio
Y198NDLCLYVTAGD1Xenopus tropicalis
Y198NDLCQYVTSSD1Bos taurus


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