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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for MYO3A |
Gene summary |
Gene information | Gene symbol | MYO3A | Gene ID | 53904 |
Gene name | myosin IIIA | |
Synonyms | DFNB30 | |
Cytomap | 10p12.1 | |
Type of gene | protein-coding | |
Description | myosin-IIIa | |
Modification date | 20180519 | |
UniProtAcc | Q8NEV4 | |
Context | PubMed: MYO3A [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
MYO3A | GO:0046777 | protein autophosphorylation | 12672820 |
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Exon skipping events across known transcript of Ensembl for MYO3A from UCSC genome browser |
Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for MYO3A |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for MYO3A |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_40165 | 10 | 26223202:26223257:26224672:26224759:26241022:26241207 | 26224672:26224759 | ENSG00000095777.10 | ENST00000376302.1 |
exon_skip_40166 | 10 | 26224716:26224759:26241022:26241207:26243802:26243937 | 26241022:26241207 | ENSG00000095777.10 | ENST00000265944.5,ENST00000376302.1,ENST00000543632.1 |
exon_skip_40168 | 10 | 26243802:26243937:26285418:26285523:26286087:26286187 | 26285418:26285523 | ENSG00000095777.10 | ENST00000376301.1,ENST00000265944.5,ENST00000376302.1,ENST00000543632.1 |
exon_skip_40169 | 10 | 26286087:26286187:26305748:26305825:26310431:26310577 | 26305748:26305825 | ENSG00000095777.10 | ENST00000265944.5,ENST00000376302.1,ENST00000543632.1 |
exon_skip_40172 | 10 | 26312950:26313016:26315305:26315461:26355903:26356003 | 26315305:26315461 | ENSG00000095777.10 | ENST00000265944.5,ENST00000543632.1 |
exon_skip_40173 | 10 | 26385496:26385611:26409604:26409731:26414326:26414537 | 26409604:26409731 | ENSG00000095777.10 | ENST00000265944.5 |
exon_skip_40174 | 10 | 26442778:26442858:26443674:26443752:26446238:26446444 | 26443674:26443752 | ENSG00000095777.10 | ENST00000265944.5 |
exon_skip_40181 | 10 | 26462591:26463486:26465629:26465774:26482133:26482240 | 26465629:26465774 | ENSG00000095777.10 | ENST00000265944.5 |
exon_skip_40186 | 10 | 26465629:26465774:26482133:26482240:26490193:26490234 | 26482133:26482240 | ENSG00000095777.10 | ENST00000265944.5 |
exon_skip_40188 | 10 | 26490193:26490234:26491892:26492036:26500771:26501138 | 26491892:26492036 | ENSG00000095777.10 | ENST00000265944.5 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MYO3A |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_40165 | 10 | 26223202:26223257:26224672:26224759:26241022:26241207 | 26224672:26224759 | ENSG00000095777.10 | ENST00000376302.1 |
exon_skip_40168 | 10 | 26243802:26243937:26285418:26285523:26286087:26286187 | 26285418:26285523 | ENSG00000095777.10 | ENST00000265944.5,ENST00000376302.1,ENST00000543632.1,ENST00000376301.1 |
exon_skip_40172 | 10 | 26312950:26313016:26315305:26315461:26355903:26356003 | 26315305:26315461 | ENSG00000095777.10 | ENST00000265944.5,ENST00000543632.1 |
exon_skip_40173 | 10 | 26385496:26385611:26409604:26409731:26414326:26414537 | 26409604:26409731 | ENSG00000095777.10 | ENST00000265944.5 |
exon_skip_40174 | 10 | 26442778:26442858:26443674:26443752:26446238:26446444 | 26443674:26443752 | ENSG00000095777.10 | ENST00000265944.5 |
exon_skip_40181 | 10 | 26462591:26463486:26465629:26465774:26482133:26482240 | 26465629:26465774 | ENSG00000095777.10 | ENST00000265944.5 |
exon_skip_40186 | 10 | 26465629:26465774:26482133:26482240:26490193:26490234 | 26482133:26482240 | ENSG00000095777.10 | ENST00000265944.5 |
exon_skip_40188 | 10 | 26490193:26490234:26491892:26492036:26500771:26501138 | 26491892:26492036 | ENSG00000095777.10 | ENST00000265944.5 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for MYO3A |
Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000265944 | 26241022 | 26241207 | 5CDS-5UTR |
ENST00000265944 | 26305748 | 26305825 | Frame-shift |
ENST00000265944 | 26409604 | 26409731 | Frame-shift |
ENST00000265944 | 26465629 | 26465774 | Frame-shift |
ENST00000265944 | 26482133 | 26482240 | Frame-shift |
ENST00000265944 | 26285418 | 26285523 | In-frame |
ENST00000265944 | 26315305 | 26315461 | In-frame |
ENST00000265944 | 26443674 | 26443752 | In-frame |
ENST00000265944 | 26491892 | 26492036 | In-frame |
Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000265944 | 26409604 | 26409731 | Frame-shift |
ENST00000265944 | 26465629 | 26465774 | Frame-shift |
ENST00000265944 | 26482133 | 26482240 | Frame-shift |
ENST00000265944 | 26285418 | 26285523 | In-frame |
ENST00000265944 | 26315305 | 26315461 | In-frame |
ENST00000265944 | 26443674 | 26443752 | In-frame |
ENST00000265944 | 26491892 | 26492036 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MYO3A |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
Loci of skipped exons in TCGA 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 |
ENST00000265944 | 5598 | 1616 | 26285418 | 26285523 | 470 | 574 | 101 | 136 |
ENST00000265944 | 5598 | 1616 | 26315305 | 26315461 | 964 | 1119 | 266 | 317 |
ENST00000265944 | 5598 | 1616 | 26443674 | 26443752 | 2882 | 2959 | 905 | 931 |
ENST00000265944 | 5598 | 1616 | 26491892 | 26492036 | 4753 | 4896 | 1529 | 1576 |
Loci of skipped exons in GTEx 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 |
ENST00000265944 | 5598 | 1616 | 26285418 | 26285523 | 470 | 574 | 101 | 136 |
ENST00000265944 | 5598 | 1616 | 26315305 | 26315461 | 964 | 1119 | 266 | 317 |
ENST00000265944 | 5598 | 1616 | 26443674 | 26443752 | 2882 | 2959 | 905 | 931 |
ENST00000265944 | 5598 | 1616 | 26491892 | 26492036 | 4753 | 4896 | 1529 | 1576 |
Lost protein functional features of individual exon skipping events in TCGA. |
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 |
Q8NEV4 | 101 | 136 | 1 | 1616 | Chain | ID=PRO_0000086413;Note=Myosin-IIIa |
Q8NEV4 | 101 | 136 | 21 | 287 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
Q8NEV4 | 266 | 317 | 248 | 1616 | Alternative sequence | ID=VSP_056232;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NEV4 | 266 | 317 | 1 | 1616 | Chain | ID=PRO_0000086413;Note=Myosin-IIIa |
Q8NEV4 | 266 | 317 | 21 | 287 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
Q8NEV4 | 905 | 931 | 248 | 1616 | Alternative sequence | ID=VSP_056232;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NEV4 | 905 | 931 | 1 | 1616 | Chain | ID=PRO_0000086413;Note=Myosin-IIIa |
Q8NEV4 | 905 | 931 | 338 | 1053 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
Q8NEV4 | 1529 | 1576 | 248 | 1616 | Alternative sequence | ID=VSP_056232;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NEV4 | 1529 | 1576 | 1 | 1616 | Chain | ID=PRO_0000086413;Note=Myosin-IIIa |
Lost protein functional features of individual exon skipping events in GTEx. |
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 |
Q8NEV4 | 101 | 136 | 1 | 1616 | Chain | ID=PRO_0000086413;Note=Myosin-IIIa |
Q8NEV4 | 101 | 136 | 21 | 287 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
Q8NEV4 | 266 | 317 | 248 | 1616 | Alternative sequence | ID=VSP_056232;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NEV4 | 266 | 317 | 1 | 1616 | Chain | ID=PRO_0000086413;Note=Myosin-IIIa |
Q8NEV4 | 266 | 317 | 21 | 287 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
Q8NEV4 | 905 | 931 | 248 | 1616 | Alternative sequence | ID=VSP_056232;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NEV4 | 905 | 931 | 1 | 1616 | Chain | ID=PRO_0000086413;Note=Myosin-IIIa |
Q8NEV4 | 905 | 931 | 338 | 1053 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
Q8NEV4 | 1529 | 1576 | 248 | 1616 | Alternative sequence | ID=VSP_056232;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NEV4 | 1529 | 1576 | 1 | 1616 | Chain | ID=PRO_0000086413;Note=Myosin-IIIa |
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SNVs in the skipped exons for MYO3A |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- Differential PSIs between mutated versus non-mutated samples. |
- Non-synonymous mutations located in the skipped exons in TCGA. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
LIHC | TCGA-DD-A39Y-01 | exon_skip_40166 | 26241023 | 26241207 | 26241101 | 26241101 | Frame_Shift_Del | G | - | p.W21fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_40166 | 26241023 | 26241207 | 26241136 | 26241136 | Frame_Shift_Del | G | - | p.G33fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_40166 | 26241023 | 26241207 | 26241163 | 26241163 | Frame_Shift_Del | A | - | p.K42fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_40166 | 26241023 | 26241207 | 26241163 | 26241163 | Frame_Shift_Del | A | - | p.K42fs |
GBM | TCGA-19-5955-01 | exon_skip_40172 | 26315306 | 26315461 | 26315330 | 26315330 | Frame_Shift_Del | G | - | p.K274fs |
ESCA | TCGA-L5-A4OE-01 | exon_skip_40172 | 26315306 | 26315461 | 26315325 | 26315325 | Nonsense_Mutation | G | T | p.E273* |
ESCA | TCGA-L5-A4OE-01 | exon_skip_40172 | 26315306 | 26315461 | 26315325 | 26315325 | Nonsense_Mutation | G | T | p.E273X |
UCEC | TCGA-BS-A0TC-01 | exon_skip_40172 | 26315306 | 26315461 | 26315346 | 26315346 | Nonsense_Mutation | G | T | p.E280* |
READ | TCGA-EI-6881-01 | exon_skip_40173 | 26409605 | 26409731 | 26409725 | 26409725 | Nonsense_Mutation | G | T | p.E633X |
HNSC | TCGA-QK-A8Z7-01 | exon_skip_40174 | 26443675 | 26443752 | 26443684 | 26443684 | Nonsense_Mutation | G | T | p.G909* |
UCEC | TCGA-BS-A0UV-01 | exon_skip_40181 | 26465630 | 26465774 | 26465648 | 26465648 | Nonsense_Mutation | G | T | p.E1438* |
UCEC | TCGA-D1-A103-01 | exon_skip_40181 | 26465630 | 26465774 | 26465648 | 26465648 | Nonsense_Mutation | G | T | p.E1438* |
SKCM | TCGA-WE-AAA0-06 | exon_skip_40181 | 26465630 | 26465774 | 26465653 | 26465653 | Nonsense_Mutation | T | A | p.Y1439* |
GBM | TCGA-28-2501-01 | exon_skip_40181 | 26465630 | 26465774 | 26465747 | 26465747 | Nonsense_Mutation | C | T | p.R1471* |
STAD | TCGA-D7-5577-01 | exon_skip_40186 | 26482134 | 26482240 | 26482178 | 26482178 | Nonsense_Mutation | C | T | p.R1495* |
STAD | TCGA-D7-5577-01 | exon_skip_40186 | 26482134 | 26482240 | 26482178 | 26482178 | Nonsense_Mutation | C | T | p.R1495X |
SKCM | TCGA-EE-A2MC-06 | exon_skip_40188 | 26491893 | 26492036 | 26491913 | 26491913 | Nonsense_Mutation | T | A | p.L1536* |
UCEC | TCGA-D1-A17Q-01 | exon_skip_40188 | 26491893 | 26492036 | 26492002 | 26492002 | Nonsense_Mutation | G | T | p.E1566* |
BLCA | TCGA-BT-A20V-01 | exon_skip_40188 | 26491893 | 26492036 | 26492008 | 26492008 | Nonsense_Mutation | C | T | p.Q1568* |
- Depth of coverage in the three exons composing exon skipping event |
Depth of coverage in three exons | Mutation description |
- 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 |
C33A_CERVIX | 26465630 | 26465774 | 26465666 | 26465666 | Frame_Shift_Del | A | - | p.K1445fs |
HCC38_BREAST | 26241023 | 26241207 | 26241109 | 26241114 | In_Frame_Del | ACTGAG | - | p.TE24del |
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 26241023 | 26241207 | 26241043 | 26241043 | Missense_Mutation | T | C | p.F2L |
ACCS_URINARY_TRACT | 26241023 | 26241207 | 26241082 | 26241082 | Missense_Mutation | C | G | p.P15A |
RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 26241023 | 26241207 | 26241100 | 26241100 | Missense_Mutation | T | C | p.W21R |
KNS81FD_CENTRAL_NERVOUS_SYSTEM | 26241023 | 26241207 | 26241116 | 26241116 | Missense_Mutation | C | T | p.T26I |
NCIH1836_LUNG | 26241023 | 26241207 | 26241127 | 26241127 | Missense_Mutation | G | A | p.G30R |
AU565_BREAST | 26241023 | 26241207 | 26241170 | 26241170 | Missense_Mutation | G | A | p.G44D |
SKBR3_BREAST | 26241023 | 26241207 | 26241170 | 26241170 | Missense_Mutation | G | A | p.G44D |
NCIH2882_LUNG | 26285419 | 26285523 | 26285483 | 26285483 | Missense_Mutation | G | T | p.S123I |
NCIH2882_LUNG | 26305749 | 26305825 | 26305771 | 26305771 | Missense_Mutation | T | G | p.S177R |
KYSE70_OESOPHAGUS | 26305749 | 26305825 | 26305781 | 26305781 | Missense_Mutation | C | A | p.R181S |
SW403_LARGE_INTESTINE | 26305749 | 26305825 | 26305782 | 26305782 | Missense_Mutation | G | T | p.R181L |
EN_ENDOMETRIUM | 26305749 | 26305825 | 26305790 | 26305790 | Missense_Mutation | A | G | p.T184A |
GEO_LARGE_INTESTINE | 26315306 | 26315461 | 26315332 | 26315332 | Missense_Mutation | G | A | p.R275H |
HKA1_SKIN | 26315306 | 26315461 | 26315356 | 26315356 | Missense_Mutation | A | C | p.Q283P |
SNU478_BILIARY_TRACT | 26315306 | 26315461 | 26315356 | 26315356 | Missense_Mutation | A | C | p.Q283P |
MKN7_STOMACH | 26315306 | 26315461 | 26315356 | 26315356 | Missense_Mutation | A | C | p.Q283P |
SCC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 26315306 | 26315461 | 26315388 | 26315388 | Missense_Mutation | G | T | p.D294Y |
HEC251_ENDOMETRIUM | 26409605 | 26409731 | 26409632 | 26409632 | Missense_Mutation | G | A | p.A602T |
SNU1040_LARGE_INTESTINE | 26409605 | 26409731 | 26409693 | 26409693 | Missense_Mutation | A | G | p.D622G |
GP2D_LARGE_INTESTINE | 26409605 | 26409731 | 26409716 | 26409716 | Missense_Mutation | A | G | p.T630A |
SUM149PT_BREAST | 26443675 | 26443752 | 26443697 | 26443697 | Missense_Mutation | G | A | p.R913H |
NCIH1734_LUNG | 26443675 | 26443752 | 26443699 | 26443699 | Missense_Mutation | C | A | p.H914N |
MFE319_ENDOMETRIUM | 26443675 | 26443752 | 26443703 | 26443703 | Missense_Mutation | C | T | p.A915V |
HEC6_ENDOMETRIUM | 26443675 | 26443752 | 26443723 | 26443723 | Missense_Mutation | A | G | p.K922E |
SNU81_LARGE_INTESTINE | 26443675 | 26443752 | 26443731 | 26443731 | Missense_Mutation | A | C | p.Q924H |
SKMEL30_SKIN | 26465630 | 26465774 | 26465657 | 26465657 | Missense_Mutation | A | G | p.I1441V |
CW2_LARGE_INTESTINE | 26465630 | 26465774 | 26465672 | 26465672 | Missense_Mutation | T | A | p.L1446M |
CHAGOK1_LUNG | 26465630 | 26465774 | 26465678 | 26465678 | Missense_Mutation | G | A | p.E1448K |
UMC11_LUNG | 26465630 | 26465774 | 26465708 | 26465708 | Missense_Mutation | C | A | p.L1458I |
LXF289_LUNG | 26482134 | 26482240 | 26482177 | 26482177 | Missense_Mutation | A | C | p.R1494S |
LXF289_LUNG | 26482134 | 26482240 | 26482179 | 26482179 | Missense_Mutation | G | A | p.R1495Q |
LXF289_LUNG | 26482134 | 26482240 | 26482184 | 26482184 | Missense_Mutation | C | T | p.R1497W |
SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 26482134 | 26482240 | 26482185 | 26482185 | Missense_Mutation | G | A | p.R1497Q |
CPCN_LUNG | 26482134 | 26482240 | 26482185 | 26482185 | Missense_Mutation | G | A | p.R1497Q |
BEN_LUNG | 26482134 | 26482240 | 26482232 | 26482232 | Missense_Mutation | C | A | p.L1513I |
NB1_AUTONOMIC_GANGLIA | 26491893 | 26492036 | 26491904 | 26491904 | Missense_Mutation | T | C | p.L1533S |
MEWO_SKIN | 26491893 | 26492036 | 26491933 | 26491933 | Missense_Mutation | G | A | p.E1543K |
SNU175_LARGE_INTESTINE | 26491893 | 26492036 | 26491963 | 26491963 | Missense_Mutation | G | A | p.E1553K |
C99_LARGE_INTESTINE | 26491893 | 26492036 | 26491973 | 26491973 | Missense_Mutation | C | G | p.P1556R |
KMH2_THYROID | 26491893 | 26492036 | 26491991 | 26491991 | Missense_Mutation | G | T | p.R1562I |
KP4_PANCREAS | 26491893 | 26492036 | 26491991 | 26491991 | Missense_Mutation | G | T | p.R1562I |
HEC251_ENDOMETRIUM | 26491893 | 26492036 | 26492002 | 26492002 | Nonsense_Mutation | G | T | p.E1566* |
HEC251_ENDOMETRIUM | 26443675 | 26443752 | 26443751 | 26443751 | Splice_Site | G | T | p.R931I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MYO3A |
sQTL information located at the skipped exons. |
Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MYO3A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MYO3A |
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RelatedDrugs for MYO3A |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Q8NEV4 | DB12010 | Fostamatinib | Myosin-IIIa | small molecule | approved|investigational |
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RelatedDiseases for MYO3A |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |