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mutLBSgeneDB |
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| Gene summary for MYOC |
 Gene summary |
| Basic gene Info. | Gene symbol | MYOC |
| Gene name | myocilin, trabecular meshwork inducible glucocorticoid response | |
| Synonyms | GLC1A|GPOA|JOAG|JOAG1|TIGR|myocilin | |
| Cytomap | UCSC genome browser: 1q23-q24 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000261.1, | |
| Description | mutated trabecular meshwork-induced glucocorticoid response proteinmyocilinmyocilin 55 kDa subunit | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 601652 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000034971 | ||
| HPRD : 03387 | ||
| Vega : OTTHUMG00000034789 | ||
| Protein | UniProt: Q99972 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MYOC | |
| BioGPS: 4653 | ||
| Pathway | NCI Pathway Interaction Database: MYOC | |
| KEGG: MYOC | ||
| REACTOME: MYOC | ||
| Pathway Commons: MYOC | ||
| Context | iHOP: MYOC | |
| ligand binding site mutation search in PubMed: MYOC | ||
| UCL Cancer Institute: MYOC | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0001649 | osteoblast differentiation | 23629661 | GO:0001953 | negative regulation of cell-matrix adhesion | 17984096 | GO:0014068 | positive regulation of phosphatidylinositol 3-kinase signaling | 21656515 | GO:0030335 | positive regulation of cell migration | 21656515 | GO:0035024 | negative regulation of Rho protein signal transduction | 17984096 | GO:0043408 | regulation of MAPK cascade | 23629661 | GO:0051496 | positive regulation of stress fiber assembly | 19188438 | GO:0051497 | negative regulation of stress fiber assembly | 17984096 | GO:0051894 | positive regulation of focal adhesion assembly | 18855004 | GO:0051897 | positive regulation of protein kinase B signaling | 21656515 | GO:0051901 | positive regulation of mitochondrial depolarization | 17516541 | GO:1900026 | positive regulation of substrate adhesion-dependent cell spreading | 18855004 |
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| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | N469 | R470C | LUAD | 1 | N469 | R470H | LUAD | 1 | K314 | P312R | LUAD | 1 | N469 | N469K | OV | 1 | W373 | W373L | OV | 1 | P466 | P466A | SKCM | 1 | A429 | F430L | SKCM | 1 |
| 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 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 |
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| 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. |
| LBS | AAchange of nsSNV | Relative stability change | P466 | P466A | -1.7344465 | N469 | R470H | -1.5799636 | N469 | R470C | -1.339704 | K314 | P312R | -0.92499748 | A429 | F430L | -0.6946127 | N469 | N469K | -0.30834025 | W373 | W373L | -0.26613348 |
| (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 |
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| 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) |
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| Phenotype information for MYOC |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of MYOC go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 4wxq | A | A429 | CA | CALCIUM(2+) | 4wxs | A | A429 | CA | CALCIUM(2+) | 4wxu | A | A429 | GOL | GLYCEROL | 4wxs | A | K314 | GOL | GLYCEROL | 4wxu | A | P466 | GOL | GLYCEROL | 4wxs | A | W373 N469 |
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| Conservation information for LBS of MYOC |
| Multiple alignments for Q99972 in multiple species |
| LBS | AA sequence | # species | Species | A327 | LESTGAVVYSG | 2 | Homo sapiens, Rattus norvegicus | A327 | LESTGAVVYAG | 1 | Mus musculus | A327 | LESTGAVVYRG | 1 | Canis lupus familiaris | A429 | QSVANAFVICG | 3 | Mus musculus, Rattus norvegicus, Canis lupus familiaris | A429 | QSVANAFIICG | 1 | Homo sapiens | D380 | GYTDIDLAVDE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris | D478 | YSSMIDYNPLE | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | D478 | YSSMVDYNPLE | 1 | Rattus norvegicus | E253 | LVWVGEPLTLR | 2 | Homo sapiens, Canis lupus familiaris | E253 | LVWVGEPVTLR | 1 | Mus musculus | E253 | LMWVGEPVTLR | 1 | Rattus norvegicus | E352 | YELNTETVKAE | 2 | Homo sapiens, Rattus norvegicus | E352 | YELDTETVKAE | 1 | Mus musculus | E352 | YELTAETVKAE | 1 | Canis lupus familiaris | F467 | TLTIPFKNRYK | 2 | Homo sapiens, Rattus norvegicus | F467 | TLTIPFTNRYK | 1 | Mus musculus | F467 | VLSIPFKNRYK | 1 | Canis lupus familiaris | F487 | LERKLFAWDNF | 2 | Mus musculus, Rattus norvegicus | F487 | LEKKLFAWDNL | 1 | Homo sapiens | F487 | LEKKLFAWDNF | 1 | Canis lupus familiaris | G252 | ELVWVGEPLTL | 2 | Homo sapiens, Canis lupus familiaris | G252 | ALVWVGEPVTL | 1 | Mus musculus | G252 | VLMWVGEPVTL | 1 | Rattus norvegicus | G326 | PLESTGAVVYS | 1 | Homo sapiens | G326 | ALESTGAVVYA | 1 | Mus musculus | G326 | ALESTGAVVYS | 1 | Rattus norvegicus | G326 | PLESTGAVVYR | 1 | Canis lupus familiaris | H316 | YPSKVHILPRP | 1 | Homo sapiens | H316 | YPSKVHVLPRA | 1 | Mus musculus | H316 | YPSKVHVLPQA | 1 | Rattus norvegicus | H316 | YPSKVHVLPRP | 1 | Canis lupus familiaris | I317 | PSKVHILPRPL | 1 | Homo sapiens | I317 | PSKVHVLPRAL | 1 | Mus musculus | I317 | PSKVHVLPQAL | 1 | Rattus norvegicus | I317 | PSKVHVLPRPL | 1 | Canis lupus familiaris | I477 | KYSSMIDYNPL | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | I477 | KYSSMVDYNPL | 1 | Rattus norvegicus | K314 | QGYPSKVHVLP | 3 | Mus musculus, Rattus norvegicus, Canis lupus familiaris | K314 | QGYPSKVHILP | 1 | Homo sapiens | K468 | LTIPFKNRYKY | 2 | Homo sapiens, Rattus norvegicus | K468 | LTIPFTNRYKY | 1 | Mus musculus | K468 | LSIPFKNRYKY | 1 | Canis lupus familiaris | K472 | FKNRYKYSSMI | 2 | Homo sapiens, Canis lupus familiaris | K472 | FTNRYKYSSMI | 1 | Mus musculus | K472 | FKNRYKYSSMV | 1 | Rattus norvegicus | L381 | YTDIDLAVDES | 2 | Mus musculus, Rattus norvegicus | L381 | YTDIDLAVDEA | 1 | Homo sapiens | L381 | YTDIDLAVDET | 1 | Canis lupus familiaris | M271 | KYGVWMRDPKP | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris | N428 | KQSVANAFVIC | 3 | Mus musculus, Rattus norvegicus, Canis lupus familiaris | N428 | KQSVANAFIIC | 1 | Homo sapiens | N469 | TIPFKNRYKYS | 2 | Homo sapiens, Rattus norvegicus | N469 | TIPFTNRYKYS | 1 | Mus musculus | N469 | SIPFKNRYKYS | 1 | Canis lupus familiaris | N480 | SMIDYNPLEKK | 2 | Homo sapiens, Canis lupus familiaris | N480 | SMIDYNPLERK | 1 | Mus musculus | N480 | SMVDYNPLERK | 1 | Rattus norvegicus | P254 | VWVGEPLTLRT | 2 | Homo sapiens, Canis lupus familiaris | P254 | VWVGEPVTLRT | 1 | Mus musculus | P254 | MWVGEPVTLRT | 1 | Rattus norvegicus | P274 | VWMRDPKPTYP | 2 | Homo sapiens, Canis lupus familiaris | P274 | VWMRDPKPTHP | 2 | Mus musculus, Rattus norvegicus | P466 | KTLTIPFKNRY | 2 | Homo sapiens, Rattus norvegicus | P466 | KTLTIPFTNRY | 1 | Mus musculus | P466 | RVLSIPFKNRY | 1 | Canis lupus familiaris | R272 | YGVWMRDPKPT | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris | S441 | LYTVSSYTSAD | 1 | Homo sapiens | S441 | LYTVSSYSSAH | 1 | Mus musculus | S441 | LYTVSSYSSVH | 1 | Rattus norvegicus | S441 | LYTISSYSSPD | 1 | Canis lupus familiaris | S444 | VSSYTSADATV | 1 | Homo sapiens | S444 | VSSYSSAHATV | 1 | Mus musculus | S444 | VSSYSSVHATI | 1 | Rattus norvegicus | S444 | ISSYSSPDATV | 1 | Canis lupus familiaris | S474 | NRYKYSSMIDY | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | S474 | NRYKYSSMVDY | 1 | Rattus norvegicus | V251 | GELVWVGEPLT | 2 | Homo sapiens, Canis lupus familiaris | V251 | GALVWVGEPVT | 1 | Mus musculus | V251 | GVLMWVGEPVT | 1 | Rattus norvegicus | V328 | ESTGAVVYSGS | 2 | Homo sapiens, Rattus norvegicus | V328 | ESTGAVVYAGS | 1 | Mus musculus | V328 | ESTGAVVYRGS | 1 | Canis lupus familiaris | V329 | STGAVVYSGSL | 2 | Homo sapiens, Rattus norvegicus | V329 | STGAVVYAGSL | 1 | Mus musculus | V329 | STGAVVYRGSL | 1 | Canis lupus familiaris | W373 | QFPYSWGGYTD | 2 | Homo sapiens, Canis lupus familiaris | W373 | HFPYAWGGYTD | 1 | Mus musculus | W373 | QFPYAWGGYTD | 1 | Rattus norvegicus | Y473 | KNRYKYSSMID | 2 | Homo sapiens, Canis lupus familiaris | Y473 | TNRYKYSSMID | 1 | Mus musculus | Y473 | KNRYKYSSMVD | 1 | Rattus norvegicus | Y479 | SSMIDYNPLEK | 2 | Homo sapiens, Canis lupus familiaris | Y479 | SSMIDYNPLER | 1 | Mus musculus | Y479 | SSMVDYNPLER | 1 | Rattus norvegicus |
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