Gene Page: MYOT
Summary ?
| GeneID | 9499 |
| Symbol | MYOT |
| Synonyms | LGMD1|LGMD1A|MFM3|TTID|TTOD |
| Description | myotilin |
| Reference | MIM:604103|HGNC:HGNC:12399|Ensembl:ENSG00000120729|HPRD:04981|Vega:OTTHUMG00000129154 |
| Gene type | protein-coding |
| Map location | 5q31 |
| Pascal p-value | 0.001 |
| Sherlock p-value | 0.468 |
| eGene | Myers' cis & trans |
Gene in Data Sources
| Gene set name | Method of gene set | Description | Info |
|---|---|---|---|
| CV:PGCnp | Genome-wide Association Study | GWAS | |
| GSMA_I | Genome scan meta-analysis | Psr: 0.0032 |
Section I. Genetics and epigenetics annotation
eQTL annotation
| SNP ID | Chromosome | Position | eGene | Gene Entrez ID | pvalue | qvalue | TSS distance | eQTL type |
|---|---|---|---|---|---|---|---|---|
| rs12335532 | chr9 | 96193954 | MYOT | 9499 | 0.08 | trans |
Section II. Transcriptome annotation
General gene expression (GTEx)
Gene expression of temporal and spatial changes (BrainSpan)
Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.
Top co-expressed genes in brain regions
| Top 10 positively co-expressed genes | ||
| Gene | Pearson's Correlation | Spearman's Correlation |
| VAPA | 0.92 | 0.90 |
| PPP2CA | 0.92 | 0.88 |
| DNAJA2 | 0.90 | 0.87 |
| BCAS2 | 0.89 | 0.88 |
| UBE2N | 0.89 | 0.87 |
| RAB2A | 0.89 | 0.85 |
| COPS8 | 0.89 | 0.87 |
| STRAP | 0.89 | 0.84 |
| BTBD10 | 0.89 | 0.85 |
| ENOPH1 | 0.88 | 0.84 |
| Top 10 negatively co-expressed genes | ||
| Gene | Pearson's Correlation | Spearman's Correlation |
| MT-CO2 | -0.70 | -0.53 |
| AF347015.2 | -0.70 | -0.53 |
| AF347015.26 | -0.69 | -0.53 |
| AF347015.8 | -0.68 | -0.52 |
| AF347015.33 | -0.68 | -0.53 |
| AF347015.18 | -0.67 | -0.54 |
| MT-CYB | -0.67 | -0.52 |
| AF347015.21 | -0.66 | -0.44 |
| AF347015.15 | -0.64 | -0.51 |
| AF347015.31 | -0.64 | -0.49 |
Section III. Gene Ontology annotation
| Molecular function | GO term | Evidence | Neuro keywords | PubMed ID |
|---|---|---|---|---|
| GO:0003779 | actin binding | IEA | - | |
| GO:0005515 | protein binding | IPI | 12809483 |16076904 | |
| GO:0008307 | structural constituent of muscle | TAS | 10958653 | |
| Biological process | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0006936 | muscle contraction | TAS | 10958653 | |
| Cellular component | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0005737 | cytoplasm | IEA | - | |
| GO:0005783 | endoplasmic reticulum | IEA | - | |
| GO:0005886 | plasma membrane | IEA | - | |
| GO:0015629 | actin cytoskeleton | TAS | 10369880 |
Section V. Pathway annotation
| Pathway name | Pathway size | # SZGR 2.0 genes in pathway | Info |
|---|---|---|---|
| VECCHI GASTRIC CANCER EARLY DN | 367 | 220 | All SZGR 2.0 genes in this pathway |
| SABATES COLORECTAL ADENOMA DN | 291 | 176 | All SZGR 2.0 genes in this pathway |
| RICKMAN HEAD AND NECK CANCER F | 54 | 32 | All SZGR 2.0 genes in this pathway |
| BLALOCK ALZHEIMERS DISEASE UP | 1691 | 1088 | All SZGR 2.0 genes in this pathway |
| CHEN LVAD SUPPORT OF FAILING HEART UP | 103 | 69 | All SZGR 2.0 genes in this pathway |
| YAUCH HEDGEHOG SIGNALING PARACRINE DN | 264 | 159 | All SZGR 2.0 genes in this pathway |
| ROME INSULIN TARGETS IN MUSCLE UP | 442 | 263 | All SZGR 2.0 genes in this pathway |
| MIKKELSEN MCV6 LCP WITH H3K4ME3 | 162 | 80 | All SZGR 2.0 genes in this pathway |
| RAO BOUND BY SALL4 | 227 | 149 | All SZGR 2.0 genes in this pathway |
| CHEMELLO SOLEUS VS EDL MYOFIBERS UP | 35 | 16 | All SZGR 2.0 genes in this pathway |