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 MYOC
Gene summary
Basic gene Info.Gene symbolMYOC
Gene namemyocilin, trabecular meshwork inducible glucocorticoid response
CytomapUCSC genome browser: 1q23-q24
Type of geneprotein-coding
Descriptionmutated trabecular meshwork-induced glucocorticoid response proteinmyocilinmyocilin 55 kDa subunit
Modification date20141207
dbXrefs MIM : 601652
Ensembl : ENSG00000034971
HPRD : 03387
Vega : OTTHUMG00000034789
ProteinUniProt: Q99972
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_MYOC
BioGPS: 4653
PathwayNCI Pathway Interaction Database: MYOC
Pathway Commons: MYOC
ContextiHOP: MYOC
ligand binding site mutation search in PubMed: MYOC
UCL Cancer Institute: MYOC
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0001649osteoblast differentiation23629661
GO:0001953negative regulation of cell-matrix adhesion17984096
GO:0014068positive regulation of phosphatidylinositol 3-kinase signaling21656515
GO:0030335positive regulation of cell migration21656515
GO:0035024negative regulation of Rho protein signal transduction17984096
GO:0043408regulation of MAPK cascade23629661
GO:0051496positive regulation of stress fiber assembly19188438
GO:0051497negative regulation of stress fiber assembly17984096
GO:0051894positive regulation of focal adhesion assembly18855004
GO:0051897positive regulation of protein kinase B signaling21656515
GO:0051901positive regulation of mitochondrial depolarization17516541
GO:1900026positive regulation of substrate adhesion-dependent cell spreading18855004

Ligand binding site mutations for MYOC
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
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.

Protein structure related information for MYOC
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
(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 MYOC from PDB

Differential gene expression and gene-gene network for MYOC
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 MYOC and the right PPI network was created from samples without mutations in the LBS of MYOC. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for MYOC
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

Pharmacological information for MYOC
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.
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 MYOC go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of MYOC
Multiple alignments for Q99972 in multiple species
LBSAA sequence# speciesSpecies
A327LESTGAVVYSG2Homo sapiens, Rattus norvegicus
A327LESTGAVVYAG1Mus musculus
A327LESTGAVVYRG1Canis lupus familiaris
A429QSVANAFVICG3Mus musculus, Rattus norvegicus, Canis lupus familiaris
A429QSVANAFIICG1Homo sapiens
D380GYTDIDLAVDE4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
D478YSSMIDYNPLE3Homo sapiens, Mus musculus, Canis lupus familiaris
D478YSSMVDYNPLE1Rattus norvegicus
E253LVWVGEPLTLR2Homo sapiens, Canis lupus familiaris
E253LVWVGEPVTLR1Mus musculus
E253LMWVGEPVTLR1Rattus norvegicus
E352YELNTETVKAE2Homo sapiens, Rattus norvegicus
E352YELDTETVKAE1Mus musculus
E352YELTAETVKAE1Canis lupus familiaris
F467TLTIPFKNRYK2Homo sapiens, Rattus norvegicus
F467TLTIPFTNRYK1Mus musculus
F467VLSIPFKNRYK1Canis lupus familiaris
F487LERKLFAWDNF2Mus musculus, Rattus norvegicus
F487LEKKLFAWDNL1Homo sapiens
F487LEKKLFAWDNF1Canis lupus familiaris
G252ELVWVGEPLTL2Homo sapiens, Canis lupus familiaris
G252ALVWVGEPVTL1Mus musculus
G252VLMWVGEPVTL1Rattus norvegicus
G326PLESTGAVVYS1Homo sapiens
G326ALESTGAVVYA1Mus musculus
G326ALESTGAVVYS1Rattus norvegicus
G326PLESTGAVVYR1Canis lupus familiaris
H316YPSKVHILPRP1Homo sapiens
H316YPSKVHVLPRA1Mus musculus
H316YPSKVHVLPQA1Rattus norvegicus
H316YPSKVHVLPRP1Canis lupus familiaris
I317PSKVHILPRPL1Homo sapiens
I317PSKVHVLPRAL1Mus musculus
I317PSKVHVLPQAL1Rattus norvegicus
I317PSKVHVLPRPL1Canis lupus familiaris
I477KYSSMIDYNPL3Homo sapiens, Mus musculus, Canis lupus familiaris
I477KYSSMVDYNPL1Rattus norvegicus
K314QGYPSKVHVLP3Mus musculus, Rattus norvegicus, Canis lupus familiaris
K314QGYPSKVHILP1Homo sapiens
K468LTIPFKNRYKY2Homo sapiens, Rattus norvegicus
K468LTIPFTNRYKY1Mus musculus
K468LSIPFKNRYKY1Canis lupus familiaris
K472FKNRYKYSSMI2Homo sapiens, Canis lupus familiaris
K472FTNRYKYSSMI1Mus musculus
K472FKNRYKYSSMV1Rattus norvegicus
L381YTDIDLAVDES2Mus musculus, Rattus norvegicus
L381YTDIDLAVDEA1Homo sapiens
L381YTDIDLAVDET1Canis lupus familiaris
M271KYGVWMRDPKP4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
N428KQSVANAFVIC3Mus musculus, Rattus norvegicus, Canis lupus familiaris
N428KQSVANAFIIC1Homo sapiens
N469TIPFKNRYKYS2Homo sapiens, Rattus norvegicus
N469TIPFTNRYKYS1Mus musculus
N469SIPFKNRYKYS1Canis lupus familiaris
N480SMIDYNPLEKK2Homo sapiens, Canis lupus familiaris
N480SMIDYNPLERK1Mus musculus
N480SMVDYNPLERK1Rattus norvegicus
P254VWVGEPLTLRT2Homo sapiens, Canis lupus familiaris
P254VWVGEPVTLRT1Mus musculus
P254MWVGEPVTLRT1Rattus norvegicus
P274VWMRDPKPTYP2Homo sapiens, Canis lupus familiaris
P274VWMRDPKPTHP2Mus musculus, Rattus norvegicus
P466KTLTIPFKNRY2Homo sapiens, Rattus norvegicus
P466KTLTIPFTNRY1Mus musculus
P466RVLSIPFKNRY1Canis lupus familiaris
R272YGVWMRDPKPT4Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris
S441LYTVSSYTSAD1Homo sapiens
S441LYTVSSYSSAH1Mus musculus
S441LYTVSSYSSVH1Rattus norvegicus
S441LYTISSYSSPD1Canis lupus familiaris
S444VSSYTSADATV1Homo sapiens
S444VSSYSSAHATV1Mus musculus
S444VSSYSSVHATI1Rattus norvegicus
S444ISSYSSPDATV1Canis lupus familiaris
S474NRYKYSSMIDY3Homo sapiens, Mus musculus, Canis lupus familiaris
S474NRYKYSSMVDY1Rattus norvegicus
V251GELVWVGEPLT2Homo sapiens, Canis lupus familiaris
V251GALVWVGEPVT1Mus musculus
V251GVLMWVGEPVT1Rattus norvegicus
V328ESTGAVVYSGS2Homo sapiens, Rattus norvegicus
V328ESTGAVVYAGS1Mus musculus
V328ESTGAVVYRGS1Canis lupus familiaris
V329STGAVVYSGSL2Homo sapiens, Rattus norvegicus
V329STGAVVYAGSL1Mus musculus
V329STGAVVYRGSL1Canis lupus familiaris
W373QFPYSWGGYTD2Homo sapiens, Canis lupus familiaris
W373HFPYAWGGYTD1Mus musculus
W373QFPYAWGGYTD1Rattus norvegicus
Y473KNRYKYSSMID2Homo sapiens, Canis lupus familiaris
Y473TNRYKYSSMID1Mus musculus
Y473KNRYKYSSMVD1Rattus norvegicus
Y479SSMIDYNPLEK2Homo sapiens, Canis lupus familiaris
Y479SSMIDYNPLER1Mus musculus
Y479SSMVDYNPLER1Rattus norvegicus

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