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 MERTK
Gene summary
Basic gene Info.Gene symbolMERTK
Gene nameMER proto-oncogene, tyrosine kinase
SynonymsMER|RP38|Tyro12|c-Eyk|c-mer
CytomapUCSC genome browser: 2q14.1
Type of geneprotein-coding
RefGenesNM_006343.2,
DescriptionMER receptor tyrosine kinaseSTK kinasec-mer proto-oncogene tyrosine kinaseproto-oncogene c-Merreceptor tyrosine kinase MerTKtyrosine-protein kinase Mer
Modification date20141219
dbXrefs MIM : 604705
HGNC : HGNC
Ensembl : ENSG00000153208
HPRD : 05269
Vega : OTTHUMG00000131278
ProteinUniProt: Q12866
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_MERTK
BioGPS: 10461
PathwayNCI Pathway Interaction Database: MERTK
KEGG: MERTK
REACTOME: MERTK
Pathway Commons: MERTK
ContextiHOP: MERTK
ligand binding site mutation search in PubMed: MERTK
UCL Cancer Institute: MERTK
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0050766positive regulation of phagocytosis18395422


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Ligand binding site mutations for MERTK
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
D723R722QSKCM2
R651L653VBLCA1
A617A617SCOAD1
Y676Y676CLUAD1
R732D733YSKCM1
E603E603KSKCM1
S686,L688R687QUCEC1
L593I592NUCEC1
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 MERTK
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
L593I592N-1.2801966
L688R687Q-1.1564304
S686R687Q-1.1564304
A617A617S-1.1219127
R651L653V-0.81600291
R732D733Y-0.63764449
D723R722Q-0.55850974
Y676Y676C-0.44207605
E603E603K-0.30973879
(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 MERTK from PDB
PDB IDPDB titlePDB structure
2P0CCatalytic Domain of the Proto-oncogene Tyrosine-protein Kinase MER

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Differential gene expression and gene-gene network for MERTK
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 MERTK and the right PPI network was created from samples without mutations in the LBS of MERTK. 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 MERTK
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0035334Retinitis Pigmentosa11Biomarker, GeneticVariation
umls:C3151228RETINITIS PIGMENTOSA 381GeneticVariation
umls:C0040053Thrombosis1Biomarker
umls:C0007097Carcinoma1Biomarker
umls:C0017661Glomerulonephritis, IGA1Biomarker
umls:C0031117Peripheral Nervous System Diseases1Biomarker
umls:C0034065Pulmonary Embolism1Therapeutic
umls:C0040038Thromboembolism1Therapeutic

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

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Pharmacological information for MERTK
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
ExperimentalDB083252-(2-HYDROXYETHYLAMINO)-6-(3-CHLOROANILINO)-9-ISOPROPYLPURINESmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of MERTK go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
OLP2-(2-HYDROXYETHYLAMINO)-6-(3-CHLOROANILINO)-9-ISOPROPYLPURINE3bprAA617
OLP2-(2-HYDROXYETHYLAMINO)-6-(3-CHLOROANILINO)-9-ISOPROPYLPURINE3bprCA617
OLP2-(2-HYDROXYETHYLAMINO)-6-(3-CHLOROANILINO)-9-ISOPROPYLPURINE3bprDA617
CKJ1-[(TRANS-4-AMINOCYCLOHEXYL)METHYL]-N-BUTYL-3-(4- FLUOROPHENYL)-1H-PYRAZOLO[3,4-D]PYRIMIDIN-6-AMINE3tcpBA617
MH7N-BUTYL-2-(BUTYLAMINO)-4-[(TRANS-4-HYDROXYCYCLOHEXYL) AMINO]-N-METHYLPYRIMIDINE-5-CARBOXAMIDE4mh7AA617 Y676
ANPAMP-PNP2p0cBL593 A617
OLP2-(2-HYDROXYETHYLAMINO)-6-(3-CHLOROANILINO)-9-ISOPROPYLPURINE3bprBL593 A617
ADPADP3brbAL593 A617
ADPADP3brbBL593 A617
CKJ1-[(TRANS-4-AMINOCYCLOHEXYL)METHYL]-N-BUTYL-3-(4- FLUOROPHENYL)-1H-PYRAZOLO[3,4-D]PYRIMIDIN-6-AMINE3tcpAL593 A617
24KTRANS-4-{[2-(BUTYLAMINO)-5-(PYRIDIN-2-YL)PYRIMIDIN-4- YL]AMINO}CYCLOHEXANOL4m3qAL593 A617
24KTRANS-4-{[2-(BUTYLAMINO)-5-(PYRIDIN-2-YL)PYRIMIDIN-4- YL]AMINO}CYCLOHEXANOL4m3qBL593 A617
4MH2-(BUTYLAMINO)-4-[(TRANS-4-HYDROXYCYCLOHEXYL)AMINO]-N- (4-SULFAMOYLBENZYL)PYRIMIDINE-5-CARBOXAMIDE4mhaAL593 A617
ANPAMP-PNP2p0cAL593 A617 D723
4MH2-(BUTYLAMINO)-4-[(TRANS-4-HYDROXYCYCLOHEXYL)AMINO]-N- (4-SULFAMOYLBENZYL)PYRIMIDINE-5-CARBOXAMIDE4mhaBL593 E603 A617
CLCHLORIDE3brbBR651 R732
MGMAGNESIUM(2+)4mh7BS686 L688


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Conservation information for LBS of MERTK
Multiple alignments for Q12866 in multiple species
LBSAA sequence# speciesSpecies
A617TSQKVAVKTMK2Mus musculus, Rattus norvegicus
A617TSLKVAVKTMK1Homo sapiens
D678FMKYGDLHTFL2Mus musculus, Rattus norvegicus
D678FMKYGDLHTYL1Homo sapiens
D723NFLHRDLAARN3Homo sapiens, Mus musculus, Rattus norvegicus
D741TVCVADFGLSK3Homo sapiens, Mus musculus, Rattus norvegicus
D827PEDCLDELYEI1Homo sapiens
D827PEDCLDELYDI1Mus musculus
D827PEDCLDDLYEI1Rattus norvegicus
E595GKVLGEGEFGS2Mus musculus, Rattus norvegicus
E595GKILGEGEFGS1Homo sapiens
E603FGSVMEGNLKQ3Homo sapiens, Mus musculus, Rattus norvegicus
E712IALGMEYLSNR1Homo sapiens
E712IAQGMEYLSNR1Mus musculus
E712IAQGMEYLSSR1Rattus norvegicus
F673MVILPFMKYGD3Homo sapiens, Mus musculus, Rattus norvegicus
G594LGKVLGEGEFG2Mus musculus, Rattus norvegicus
G594LGKILGEGEFG1Homo sapiens
G596KVLGEGEFGSV2Mus musculus, Rattus norvegicus
G596KILGEGEFGSV1Homo sapiens
G677PFMKYGDLHTF2Mus musculus, Rattus norvegicus
G677PFMKYGDLHTY1Homo sapiens
G691SRLETGPKHIP1Homo sapiens
G691SRLNTGPKYIH1Mus musculus
G691SRIESVPKSIP1Rattus norvegicus
I588DRNLLILGKIL1Homo sapiens
I588DRNLLVLGKVL1Mus musculus
I588DRNLLILGKVL1Rattus norvegicus
I650NHPNVIRLLGV2Mus musculus, Rattus norvegicus
I650SHPNVIRLLGV1Homo sapiens
K619QKVAVKTMKLD2Mus musculus, Rattus norvegicus
K619LKVAVKTMKLD1Homo sapiens
K675ILPFMKYGDLH3Homo sapiens, Mus musculus, Rattus norvegicus
K693LETGPKHIPLQ1Homo sapiens
K693LNTGPKYIHLQ1Mus musculus
K693IESVPKSIPLQ1Rattus norvegicus
K820HGHRLKQPEDC3Homo sapiens, Mus musculus, Rattus norvegicus
L589RNLLILGKILG1Homo sapiens
L589RNLLVLGKVLG1Mus musculus
L589RNLLILGKVLG1Rattus norvegicus
L593ILGKILGEGEF1Homo sapiens
L593VLGKVLGEGEF1Mus musculus
L593ILGKVLGEGEF1Rattus norvegicus
L671KPMVILPFMKY3Homo sapiens, Mus musculus, Rattus norvegicus
L688LLYSRLETGPK1Homo sapiens
L688LLYSRLNTGPK1Mus musculus
L688LLYSRIESVPK1Rattus norvegicus
L819LHGHRLKQPED3Homo sapiens, Mus musculus, Rattus norvegicus
M674VILPFMKYGDL3Homo sapiens, Mus musculus, Rattus norvegicus
M730AARNCMLRDDM3Homo sapiens, Mus musculus, Rattus norvegicus
N716MEYLSNRNFLH2Homo sapiens, Mus musculus
N716MEYLSSRNFLH1Rattus norvegicus
N728DLAARNCMLRD3Homo sapiens, Mus musculus, Rattus norvegicus
P672PMVILPFMKYG3Homo sapiens, Mus musculus, Rattus norvegicus
P692RLETGPKHIPL1Homo sapiens
P692RLNTGPKYIHL1Mus musculus
P692RIESVPKSIPL1Rattus norvegicus
P802GMTPYPGVQNH3Homo sapiens, Mus musculus, Rattus norvegicus
Q821GHRLKQPEDCL3Homo sapiens, Mus musculus, Rattus norvegicus
R584DVVIDRNLLIL1Homo sapiens
R584DVVIDRNLLVL1Mus musculus
R584DVVVDRNLLIL1Rattus norvegicus
R651HPNVIRLLGVC3Homo sapiens, Mus musculus, Rattus norvegicus
R727RDLAARNCMLR3Homo sapiens, Mus musculus, Rattus norvegicus
R732RNCMLRDDMTV3Homo sapiens, Mus musculus, Rattus norvegicus
S686TYLLYSRLETG1Homo sapiens
S686TFLLYSRLNTG1Mus musculus
S686TFLLYSRIESV1Rattus norvegicus
S848DRPTFSVLRLQ3Homo sapiens, Mus musculus, Rattus norvegicus
V601GEFGSVMEGNL3Homo sapiens, Mus musculus, Rattus norvegicus
Y676LPFMKYGDLHT3Homo sapiens, Mus musculus, Rattus norvegicus
Y801RGMTPYPGVQN3Homo sapiens, Mus musculus, Rattus norvegicus


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