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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 MBNL2 |
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Gene information | Gene symbol | MBNL2 | Gene ID | 10150 |
Gene name | muscleblind like splicing regulator 2 | |
Synonyms | MBLL|MBLL39|PRO2032 | |
Cytomap | 13q32.1 | |
Type of gene | protein-coding | |
Description | muscleblind-like protein 2muscleblind-like 2muscleblind-like protein 1muscleblind-like protein-like 39 | |
Modification date | 20200313 | |
UniProtAcc | ||
Context |
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Gene | GO ID | GO term | PubMed ID |
MBNL2 | GO:0043484 | regulation of RNA splicing | 15257297|16946708 |
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Gene structures and expression levels for MBNL2 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
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Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
CB | UP | ENST00000449284.1 | MBNL2-205:protein_coding:MBNL2 | 4.317064e+01 | 8.697619e-01 | 4.642898e-06 | 5.501650e-05 |
CB | UP | ENST00000469707.5 | MBNL2-206:nonsense_mediated_decay:MBNL2 | 4.399420e+01 | 1.078229e+00 | 1.205151e-04 | 8.670301e-04 |
TC | DOWN | ENST00000397601.5 | MBNL2-204:protein_coding:MBNL2 | 8.087635e+02 | -2.476155e+00 | 9.605246e-04 | 9.601477e-03 |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for MBNL2 |
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Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_108297 | chr13 | 97357482:97357635:97365136:97365171:97391322:97391599 | 97365136:97365171 |
exon_skip_109877 | chr13 | 97347041:97347067:97356796:97356849:97357482:97357635 | 97356796:97356849 |
exon_skip_124028 | chr13 | 97222355:97222531:97275632:97276409:97334276:97334440 | 97275632:97276409 |
exon_skip_147225 | chr13 | 97343016:97343216:97346804:97347067:97357482:97357635 | 97346804:97347067 |
exon_skip_167423 | chr13 | 97357482:97357635:97365136:97365171:97391322:97391512 | 97365136:97365171 |
exon_skip_183532 | chr13 | 97357587:97357635:97365136:97365171:97391322:97391599 | 97365136:97365171 |
exon_skip_18439 | chr13 | 97343032:97343216:97346804:97347067:97357482:97357635 | 97346804:97347067 |
exon_skip_190362 | chr13 | 97357482:97357635:97366459:97366553:97391322:97391599 | 97366459:97366553 |
exon_skip_201704 | chr13 | 97357587:97357635:97366459:97366553:97391322:97391599 | 97366459:97366553 |
exon_skip_224969 | chr13 | 97365136:97365171:97366459:97366553:97391322:97391599 | 97366459:97366553 |
exon_skip_258174 | chr13 | 97365136:97365171:97366459:97366553:97391322:97391512 | 97366459:97366553 |
exon_skip_44342 | chr13 | 97357587:97357635:97365136:97365171:97366459:97366553 | 97365136:97365171 |
exon_skip_45243 | chr13 | 97357482:97357635:97366459:97366553:97391322:97391512 | 97366459:97366553 |
exon_skip_65077 | chr13 | 97357482:97357635:97365136:97365171:97366459:97366553 | 97365136:97365171 |
exon_skip_8701 | chr13 | 97275632:97276409:97334276:97334440:97343016:97343216 | 97334276:97334440 |
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Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
exon_skip_183532 | MSBB_PG | 2.248889e-01 | 3.683019e-01 | -1.434130e-01 | 2.308850e-05 |
exon_skip_245608 | MSBB_PG | 3.256115e-01 | 4.837037e-01 | -1.580922e-01 | 2.109616e-05 |
exon_skip_44342 | Mayo_TC | 3.730864e-01 | 5.187692e-01 | -1.456828e-01 | 9.255721e-06 |
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Open reading frame (ORF) annotation in the exon skipping event for MBNL2 |
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ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000376673 | 97275632 | 97276409 | 5CDS-5UTR |
ENST00000376673 | 97334276 | 97334440 | In-frame |
ENST00000376673 | 97346804 | 97347067 | In-frame |
ENST00000376673 | 97365136 | 97365171 | In-frame |
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ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000376673 | 97346804 | 97347067 | In-frame |
ENST00000376673 | 97365136 | 97365171 | In-frame |
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ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000376673 | 97275632 | 97276409 | 5CDS-5UTR |
ENST00000376673 | 97334276 | 97334440 | In-frame |
ENST00000376673 | 97346804 | 97347067 | In-frame |
ENST00000376673 | 97365136 | 97365171 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MBNL2 |
p-ENSG00000139793_img4.png![]() |
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ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000376673 | 4649 | 373 | 97334276 | 97334440 | 1016 | 1179 | 58 | 113 |
ENST00000376673 | 4649 | 373 | 97346804 | 97347067 | 1382 | 1644 | 180 | 268 |
ENST00000376673 | 4649 | 373 | 97365136 | 97365171 | 1800 | 1834 | 320 | 331 |
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ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000376673 | 4649 | 373 | 97346804 | 97347067 | 1382 | 1644 | 180 | 268 |
ENST00000376673 | 4649 | 373 | 97365136 | 97365171 | 1800 | 1834 | 320 | 331 |
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ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000376673 | 4649 | 373 | 97334276 | 97334440 | 1016 | 1179 | 58 | 113 |
ENST00000376673 | 4649 | 373 | 97346804 | 97347067 | 1382 | 1644 | 180 | 268 |
ENST00000376673 | 4649 | 373 | 97365136 | 97365171 | 1800 | 1834 | 320 | 331 |
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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 |
Q5VZF2 | 58 | 113 | 1 | 373 | Chain | ID=PRO_0000274872;Note=Muscleblind-like protein 2 |
Q5VZF2 | 58 | 113 | 54 | 58 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RPP |
Q5VZF2 | 58 | 113 | 73 | 81 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RPP |
Q5VZF2 | 58 | 113 | 47 | 73 | Zinc finger | Note=C3H1-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00723 |
Q5VZF2 | 180 | 268 | 176 | 181 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S |
Q5VZF2 | 180 | 268 | 198 | 200 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S |
Q5VZF2 | 180 | 268 | 214 | 217 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S |
Q5VZF2 | 180 | 268 | 1 | 373 | Chain | ID=PRO_0000274872;Note=Muscleblind-like protein 2 |
Q5VZF2 | 180 | 268 | 184 | 187 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S |
Q5VZF2 | 180 | 268 | 193 | 196 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S |
Q5VZF2 | 180 | 268 | 219 | 223 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S |
Q5VZF2 | 180 | 268 | 238 | 248 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S |
Q5VZF2 | 180 | 268 | 254 | 254 | Sequence conflict | Note=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q5VZF2 | 180 | 268 | 210 | 212 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S |
Q5VZF2 | 180 | 268 | 176 | 204 | Zinc finger | Note=C3H1-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00723 |
Q5VZF2 | 180 | 268 | 212 | 238 | Zinc finger | Note=C3H1-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00723 |
Q5VZF2 | 320 | 331 | 320 | 331 | Alternative sequence | ID=VSP_022888;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005,ECO:0000303|Ref.3;Dbxref=PMID:15489334,PMID:17974005 |
Q5VZF2 | 320 | 331 | 1 | 373 | Chain | ID=PRO_0000274872;Note=Muscleblind-like protein 2 |
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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 |
Q5VZF2 | 180 | 268 | 176 | 181 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S |
Q5VZF2 | 180 | 268 | 198 | 200 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S |
Q5VZF2 | 180 | 268 | 214 | 217 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S |
Q5VZF2 | 180 | 268 | 1 | 373 | Chain | ID=PRO_0000274872;Note=Muscleblind-like protein 2 |
Q5VZF2 | 180 | 268 | 184 | 187 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S |
Q5VZF2 | 180 | 268 | 193 | 196 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S |
Q5VZF2 | 180 | 268 | 219 | 223 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S |
Q5VZF2 | 180 | 268 | 238 | 248 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S |
Q5VZF2 | 180 | 268 | 254 | 254 | Sequence conflict | Note=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q5VZF2 | 180 | 268 | 210 | 212 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S |
Q5VZF2 | 180 | 268 | 176 | 204 | Zinc finger | Note=C3H1-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00723 |
Q5VZF2 | 180 | 268 | 212 | 238 | Zinc finger | Note=C3H1-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00723 |
Q5VZF2 | 320 | 331 | 320 | 331 | Alternative sequence | ID=VSP_022888;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005,ECO:0000303|Ref.3;Dbxref=PMID:15489334,PMID:17974005 |
Q5VZF2 | 320 | 331 | 1 | 373 | Chain | ID=PRO_0000274872;Note=Muscleblind-like protein 2 |
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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 |
Q5VZF2 | 58 | 113 | 1 | 373 | Chain | ID=PRO_0000274872;Note=Muscleblind-like protein 2 |
Q5VZF2 | 58 | 113 | 54 | 58 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RPP |
Q5VZF2 | 58 | 113 | 73 | 81 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2RPP |
Q5VZF2 | 58 | 113 | 47 | 73 | Zinc finger | Note=C3H1-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00723 |
Q5VZF2 | 180 | 268 | 176 | 181 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S |
Q5VZF2 | 180 | 268 | 198 | 200 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S |
Q5VZF2 | 180 | 268 | 214 | 217 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S |
Q5VZF2 | 180 | 268 | 1 | 373 | Chain | ID=PRO_0000274872;Note=Muscleblind-like protein 2 |
Q5VZF2 | 180 | 268 | 184 | 187 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S |
Q5VZF2 | 180 | 268 | 193 | 196 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S |
Q5VZF2 | 180 | 268 | 219 | 223 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S |
Q5VZF2 | 180 | 268 | 238 | 248 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S |
Q5VZF2 | 180 | 268 | 254 | 254 | Sequence conflict | Note=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q5VZF2 | 180 | 268 | 210 | 212 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E5S |
Q5VZF2 | 180 | 268 | 176 | 204 | Zinc finger | Note=C3H1-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00723 |
Q5VZF2 | 180 | 268 | 212 | 238 | Zinc finger | Note=C3H1-type 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00723 |
Q5VZF2 | 320 | 331 | 320 | 331 | Alternative sequence | ID=VSP_022888;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005,ECO:0000303|Ref.3;Dbxref=PMID:15489334,PMID:17974005 |
Q5VZF2 | 320 | 331 | 1 | 373 | Chain | ID=PRO_0000274872;Note=Muscleblind-like protein 2 |
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3'-UTR located exon skipping events that lost miRNA binding sites in MBNL2 |
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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 MBNL2 |
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Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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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 MBNL2 |
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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 MBNL2 |
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Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for MBNL2 |
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Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | NUP42 | exon_skip_109877 | 4.720551e-01 | 1.580965e-09 |
CB | RBM45 | exon_skip_65077 | 5.474851e-01 | 3.686102e-12 |
CB | NUP42 | exon_skip_65077 | 5.508475e-01 | 2.557803e-12 |
CB | RBM45 | exon_skip_108297 | 4.265512e-01 | 1.083906e-07 |
CB | NUP42 | exon_skip_108297 | 4.837141e-01 | 9.364637e-10 |
CB | SRSF2 | exon_skip_245608 | 4.024256e-01 | 3.972996e-07 |
CB | RBM6 | exon_skip_245608 | -4.842654e-01 | 4.490453e-10 |
CB | RBM45 | exon_skip_245608 | 5.857095e-01 | 5.314655e-15 |
CB | NUP42 | exon_skip_245608 | 6.407056e-01 | 1.792120e-18 |
CB | RBM4 | exon_skip_245608 | -5.382169e-01 | 1.727427e-12 |
CB | SRSF2 | exon_skip_190362 | 4.403679e-01 | 3.719025e-08 |
CB | RBM4 | exon_skip_190362 | -5.041108e-01 | 1.375232e-10 |
CB | CNOT4 | exon_skip_224969 | -5.165961e-01 | 1.210921e-10 |
CB | RBM4 | exon_skip_224969 | -5.880823e-01 | 5.165149e-14 |
FL | RBFOX2 | exon_skip_65077 | 4.898700e-01 | 4.621091e-10 |
FL | ELAVL4 | exon_skip_65077 | 4.584897e-01 | 7.520293e-09 |
FL | RBFOX2 | exon_skip_108297 | 5.295974e-01 | 3.345541e-15 |
FL | ELAVL4 | exon_skip_108297 | 4.922923e-01 | 4.718055e-13 |
HCC | RBFOX2 | exon_skip_65077 | 4.820544e-01 | 1.553782e-16 |
HCC | RBFOX2 | exon_skip_108297 | 4.935167e-01 | 5.561351e-18 |
HCC | RBM45 | exon_skip_108297 | -4.703490e-01 | 2.874254e-16 |
HCC | RBFOX2 | exon_skip_245608 | 4.927329e-01 | 6.386978e-18 |
HCC | RBM6 | exon_skip_245608 | -5.694993e-01 | 1.297700e-24 |
HCC | CNOT4 | exon_skip_245608 | -4.132404e-01 | 1.466869e-12 |
HCC | RBM45 | exon_skip_245608 | -4.338160e-01 | 8.126706e-14 |
HCC | RBM4 | exon_skip_245608 | -5.652163e-01 | 3.415615e-24 |
HCC | ZC3H10 | exon_skip_245608 | -5.676420e-01 | 1.977832e-24 |
IFG | RBFOX2 | exon_skip_65077 | 7.104664e-01 | 3.293206e-05 |
IFG | ELAVL4 | exon_skip_65077 | 6.747139e-01 | 1.133701e-04 |
IFG | CELF1 | exon_skip_65077 | 4.528650e-01 | 1.768933e-02 |
IFG | RBFOX2 | exon_skip_108297 | 5.392003e-01 | 3.068015e-03 |
IFG | ELAVL4 | exon_skip_108297 | 5.334437e-01 | 3.464257e-03 |
IFG | IGF2BP2 | exon_skip_224969 | 4.459461e-01 | 1.973090e-02 |
IFG | A1CF | exon_skip_224969 | 4.440536e-01 | 2.032173e-02 |
PCC | RBFOX2 | exon_skip_65077 | 5.927405e-01 | 5.574305e-20 |
PCC | ELAVL4 | exon_skip_65077 | 4.987794e-01 | 1.005731e-13 |
PCC | RBFOX2 | exon_skip_108297 | 5.659682e-01 | 1.133132e-18 |
PCC | ELAVL4 | exon_skip_108297 | 4.414998e-01 | 3.846229e-11 |
PCC | RBFOX2 | exon_skip_245608 | 5.609010e-01 | 1.815033e-18 |
PG | RBFOX2 | exon_skip_183532 | 6.754346e-01 | 2.134349e-26 |
PG | ELAVL4 | exon_skip_183532 | 6.552593e-01 | 1.943201e-24 |
PG | NUP42 | exon_skip_183532 | 4.138836e-01 | 3.549363e-09 |
PG | CELF1 | exon_skip_183532 | 5.285736e-01 | 6.365739e-15 |
PG | RBFOX2 | exon_skip_245608 | 6.220284e-01 | 4.693335e-22 |
PG | ELAVL4 | exon_skip_245608 | 5.574592e-01 | 3.750784e-17 |
STG | RBFOX2 | exon_skip_183532 | 4.195316e-01 | 5.799988e-05 |
STG | ELAVL4 | exon_skip_183532 | 4.372635e-01 | 2.557700e-05 |
STG | SNRPA | exon_skip_201704 | 4.234828e-01 | 5.977142e-05 |
TC | RBFOX2 | exon_skip_44342 | 7.760220e-01 | 1.274247e-30 |
TC | ELAVL4 | exon_skip_44342 | 8.322567e-01 | 1.023081e-38 |
TC | NUP42 | exon_skip_44342 | 6.388078e-01 | 4.126693e-18 |
TC | CELF1 | exon_skip_44342 | 4.619696e-01 | 4.372090e-09 |
TC | RBFOX2 | exon_skip_183532 | 7.595281e-01 | 3.962138e-31 |
TC | ELAVL4 | exon_skip_183532 | 7.699674e-01 | 1.908585e-32 |
TC | NUP42 | exon_skip_183532 | 6.283673e-01 | 7.542140e-19 |
TC | CELF1 | exon_skip_183532 | 5.008274e-01 | 1.780107e-11 |
TC | RBM6 | exon_skip_224969 | -4.179932e-01 | 1.362110e-06 |
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RelatedDrugs for MBNL2 |
![]() (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 MBNL2 |
![]() (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |