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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for MYH14 |
 Gene summary |
| Gene information | Gene symbol | MYH14 | Gene ID | 79784 |
| Gene name | myosin heavy chain 14 | |
| Synonyms | DFNA4|DFNA4A|FP17425|MHC16|MYH17|NMHC II-C|NMHC-II-C|PNMHH|myosin | |
| Cytomap | 19q13.33 | |
| Type of gene | protein-coding | |
| Description | myosin-14MYH14 variant proteinmyosin heavy chain, non-muscle IIcmyosin, heavy chain 14, non-musclemyosin, heavy polypeptide 14non-muscle myosin heavy chain IIcnonmuscle myosin heavy chain II-C | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| MYH14 | GO:0031032 | actomyosin structure organization | 24072716 |
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Gene structures and expression levels for MYH14 |
| Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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ENSG00000105357
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| STG | UP | ENST00000425460.5 | MYH14-203:protein_coding:MYH14 | 1.765374e+01 | 2.326459e+01 | 1.177964e-38 | 6.898239e-35 |
| CB | DOWN | ENST00000262269.12 | MYH14-201:protein_coding:MYH14 | 6.617301e+02 | -1.357245e+00 | 1.128930e-13 | 2.512108e-11 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for MYH14 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_127978 | chr19 | 50292261:50292389:50293233:50293321:50293564:50293687 | 50293233:50293321 |
| exon_skip_161883 | chr19 | 50217615:50217771:50223083:50223110:50223247:50223349 | 50223083:50223110 |
| exon_skip_192129 | chr19 | 50223247:50223349:50224154:50224177:50225585:50225677 | 50224154:50224177 |
| exon_skip_19711 | chr19 | 50232001:50232070:50244242:50244337:50247004:50247122 | 50244242:50244337 |
| exon_skip_219995 | chr19 | 50230525:50230623:50230825:50230999:50231930:50232070 | 50230825:50230999 |
| exon_skip_245427 | chr19 | 50252639:50252753:50255220:50255318:50257299:50257486 | 50255220:50255318 |
| exon_skip_258613 | chr19 | 50250515:50250688:50252639:50252753:50257299:50257486 | 50252639:50252753 |
| exon_skip_32173 | chr19 | 50231930:50232070:50244242:50244337:50247004:50247122 | 50244242:50244337 |
| exon_skip_72323 | chr19 | 50210524:50210770:50217615:50217771:50223083:50223110 | 50217615:50217771 |
| exon_skip_85321 | chr19 | 50244242:50244337:50247004:50247122:50248987:50249139 | 50247004:50247122 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_192129 | Mayo_TC | 3.557317e-01 | 4.650000e-01 | -1.092683e-01 | 1.334754e-03 |
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Open reading frame (ORF) annotation in the exon skipping event for MYH14 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000376970 | 50247004 | 50247122 | Frame-shift |
| ENST00000596571 | 50247004 | 50247122 | Frame-shift |
| ENST00000376970 | 50244242 | 50244337 | In-frame |
| ENST00000596571 | 50244242 | 50244337 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000376970 | 50247004 | 50247122 | Frame-shift |
| ENST00000596571 | 50247004 | 50247122 | Frame-shift |
| ENST00000376970 | 50244242 | 50244337 | In-frame |
| ENST00000596571 | 50244242 | 50244337 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000376970 | 50217615 | 50217771 | Frame-shift |
| ENST00000596571 | 50217615 | 50217771 | Frame-shift |
| ENST00000376970 | 50223083 | 50223110 | Frame-shift |
| ENST00000596571 | 50223083 | 50223110 | Frame-shift |
| ENST00000376970 | 50247004 | 50247122 | Frame-shift |
| ENST00000596571 | 50247004 | 50247122 | Frame-shift |
| ENST00000376970 | 50252639 | 50252753 | Frame-shift |
| ENST00000596571 | 50252639 | 50252753 | Frame-shift |
| ENST00000376970 | 50293233 | 50293321 | Frame-shift |
| ENST00000596571 | 50293233 | 50293321 | Frame-shift |
| ENST00000376970 | 50244242 | 50244337 | In-frame |
| ENST00000596571 | 50244242 | 50244337 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MYH14 |
p-ENSG00000105357_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000376970 | 6804 | 1995 | 50244242 | 50244337 | 1139 | 1233 | 364 | 395 |
| ENST00000596571 | 6005 | 1995 | 50244242 | 50244337 | 1092 | 1186 | 364 | 395 |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000376970 | 6804 | 1995 | 50244242 | 50244337 | 1139 | 1233 | 364 | 395 |
| ENST00000596571 | 6005 | 1995 | 50244242 | 50244337 | 1092 | 1186 | 364 | 395 |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000376970 | 6804 | 1995 | 50244242 | 50244337 | 1139 | 1233 | 364 | 395 |
| ENST00000596571 | 6005 | 1995 | 50244242 | 50244337 | 1092 | 1186 | 364 | 395 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q7Z406 | 364 | 395 | 384 | 386 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I4E |
| Q7Z406 | 364 | 395 | 384 | 386 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I4E |
| Q7Z406 | 364 | 395 | 388 | 390 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I4E |
| Q7Z406 | 364 | 395 | 388 | 390 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I4E |
| Q7Z406 | 364 | 395 | 2 | 1995 | Chain | ID=PRO_0000123431;Note=Myosin-14 |
| Q7Z406 | 364 | 395 | 2 | 1995 | Chain | ID=PRO_0000123431;Note=Myosin-14 |
| Q7Z406 | 364 | 395 | 105 | 800 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
| Q7Z406 | 364 | 395 | 105 | 800 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
| Q7Z406 | 364 | 395 | 359 | 374 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I4E |
| Q7Z406 | 364 | 395 | 359 | 374 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I4E |
| Q7Z406 | 364 | 395 | 375 | 377 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I4E |
| Q7Z406 | 364 | 395 | 375 | 377 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I4E |
| Q7Z406 | 364 | 395 | 395 | 404 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I4E |
| Q7Z406 | 364 | 395 | 395 | 404 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I4E |
| Q7Z406 | 364 | 395 | 376 | 376 | Natural variant | ID=VAR_022867;Note=In DFNA4A. G->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15015131;Dbxref=dbSNP:rs119103280,PMID:15015131 |
| Q7Z406 | 364 | 395 | 376 | 376 | Natural variant | ID=VAR_022867;Note=In DFNA4A. G->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15015131;Dbxref=dbSNP:rs119103280,PMID:15015131 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q7Z406 | 364 | 395 | 384 | 386 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I4E |
| Q7Z406 | 364 | 395 | 384 | 386 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I4E |
| Q7Z406 | 364 | 395 | 388 | 390 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I4E |
| Q7Z406 | 364 | 395 | 388 | 390 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I4E |
| Q7Z406 | 364 | 395 | 2 | 1995 | Chain | ID=PRO_0000123431;Note=Myosin-14 |
| Q7Z406 | 364 | 395 | 2 | 1995 | Chain | ID=PRO_0000123431;Note=Myosin-14 |
| Q7Z406 | 364 | 395 | 105 | 800 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
| Q7Z406 | 364 | 395 | 105 | 800 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
| Q7Z406 | 364 | 395 | 359 | 374 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I4E |
| Q7Z406 | 364 | 395 | 359 | 374 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I4E |
| Q7Z406 | 364 | 395 | 375 | 377 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I4E |
| Q7Z406 | 364 | 395 | 375 | 377 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I4E |
| Q7Z406 | 364 | 395 | 395 | 404 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I4E |
| Q7Z406 | 364 | 395 | 395 | 404 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I4E |
| Q7Z406 | 364 | 395 | 376 | 376 | Natural variant | ID=VAR_022867;Note=In DFNA4A. G->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15015131;Dbxref=dbSNP:rs119103280,PMID:15015131 |
| Q7Z406 | 364 | 395 | 376 | 376 | Natural variant | ID=VAR_022867;Note=In DFNA4A. G->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15015131;Dbxref=dbSNP:rs119103280,PMID:15015131 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q7Z406 | 364 | 395 | 384 | 386 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I4E |
| Q7Z406 | 364 | 395 | 384 | 386 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I4E |
| Q7Z406 | 364 | 395 | 388 | 390 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I4E |
| Q7Z406 | 364 | 395 | 388 | 390 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I4E |
| Q7Z406 | 364 | 395 | 2 | 1995 | Chain | ID=PRO_0000123431;Note=Myosin-14 |
| Q7Z406 | 364 | 395 | 2 | 1995 | Chain | ID=PRO_0000123431;Note=Myosin-14 |
| Q7Z406 | 364 | 395 | 105 | 800 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
| Q7Z406 | 364 | 395 | 105 | 800 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
| Q7Z406 | 364 | 395 | 359 | 374 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I4E |
| Q7Z406 | 364 | 395 | 359 | 374 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I4E |
| Q7Z406 | 364 | 395 | 375 | 377 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I4E |
| Q7Z406 | 364 | 395 | 375 | 377 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I4E |
| Q7Z406 | 364 | 395 | 395 | 404 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I4E |
| Q7Z406 | 364 | 395 | 395 | 404 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I4E |
| Q7Z406 | 364 | 395 | 376 | 376 | Natural variant | ID=VAR_022867;Note=In DFNA4A. G->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15015131;Dbxref=dbSNP:rs119103280,PMID:15015131 |
| Q7Z406 | 364 | 395 | 376 | 376 | Natural variant | ID=VAR_022867;Note=In DFNA4A. G->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15015131;Dbxref=dbSNP:rs119103280,PMID:15015131 |
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3'-UTR located exon skipping events that lost miRNA binding sites in MYH14 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for MYH14 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for MYH14 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MYH14 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| PCC | exon_skip_192129 | rs4802675 | chr19:50221782 | 3.836075e-06 | 1.116494e-03 |
| PCC | exon_skip_192129 | rs1017689 | chr19:50224411 | 4.016355e-06 | 1.150457e-03 |
| PCC | exon_skip_192129 | rs11672608 | chr19:50219727 | 5.691569e-06 | 1.552180e-03 |
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Correlation with RNA binding proteins (RBPs) for MYH14 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM4 | exon_skip_219995 | -4.029059e-01 | 1.399845e-07 |
| CB | RALYL | exon_skip_245427 | 5.196664e-01 | 2.621411e-12 |
| HCC | RBM25 | exon_skip_245427 | -4.060654e-01 | 2.917937e-12 |
| HCC | RBM6 | exon_skip_245427 | -5.245819e-01 | 1.051554e-20 |
| HCC | SRSF11 | exon_skip_245427 | -4.276988e-01 | 1.440377e-13 |
| HCC | ANKHD1 | exon_skip_245427 | -4.117009e-01 | 1.360468e-12 |
| HCC | HNRNPA2B1 | exon_skip_245427 | -4.332270e-01 | 6.446559e-14 |
| HCC | EIF4G2 | exon_skip_245427 | -4.199256e-01 | 4.352841e-13 |
| HCC | PTBP1 | exon_skip_245427 | -5.658915e-01 | 1.635987e-24 |
| HCC | SRSF4 | exon_skip_245427 | -4.503812e-01 | 4.837335e-15 |
| HCC | HNRNPF | exon_skip_245427 | -5.070604e-01 | 3.060280e-19 |
| IFG | ILF2 | exon_skip_192129 | 4.706763e-01 | 2.340755e-02 |
| PCC | RALYL | exon_skip_245427 | 4.709532e-01 | 5.446271e-13 |
| PCC | PTBP1 | exon_skip_245427 | -5.955506e-01 | 1.514817e-21 |
| PCC | HNRNPF | exon_skip_245427 | -4.718085e-01 | 4.881086e-13 |
| TC | SRSF2 | exon_skip_245427 | 4.761136e-01 | 1.975106e-10 |
| TC | RBM25 | exon_skip_245427 | 4.135101e-01 | 5.487032e-08 |
| TC | ILF2 | exon_skip_245427 | 4.742178e-01 | 2.382736e-10 |
| TC | RALYL | exon_skip_245427 | 7.779686e-01 | 1.047012e-33 |
| TC | PTBP3 | exon_skip_245427 | 4.512839e-01 | 2.110290e-09 |
| TC | EWSR1 | exon_skip_245427 | 4.087509e-01 | 8.046611e-08 |
| TC | HNRNPH2 | exon_skip_245427 | 6.639728e-01 | 1.072828e-21 |
| TC | ESRP1 | exon_skip_245427 | 6.592635e-01 | 2.592926e-21 |
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RelatedDrugs for MYH14 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for MYH14 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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