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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for MBNL2 |
 Gene summary |
| 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 | 20180523 | |
| UniProtAcc | Q5VZF2 | |
| Context | PubMed: MBNL2 [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 |
| MBNL2 | GO:0043484 | regulation of RNA splicing | 15257297|16946708 |
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Exon skipping events across known transcript of Ensembl for MBNL2 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 MBNL2 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for MBNL2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_100975 | 13 | 97874608:97874785:97927885:97928663:97986529:97986694 | 97927885:97928663 | ENSG00000139793.14 | ENST00000343600.4,ENST00000376673.3,ENST00000469707.1,ENST00000345429.6 |
| exon_skip_100977 | 13 | 97928457:97928663:97986529:97986694:97995269:97995470 | 97986529:97986694 | ENSG00000139793.14 | ENST00000343600.4,ENST00000376673.3,ENST00000397601.1,ENST00000469707.1,ENST00000345429.6 |
| exon_skip_100980 | 13 | 97995269:97995470:97999057:97999321:98009735:98009889 | 97999057:97999321 | ENSG00000139793.14 | ENST00000343600.4,ENST00000376673.3,ENST00000397601.1,ENST00000345429.6 |
| exon_skip_100982 | 13 | 97999294:97999321:98009049:98009103:98009735:98009889 | 98009049:98009103 | ENSG00000139793.14 | ENST00000469707.1 |
| exon_skip_100984 | 13 | 97999294:97999321:98009735:98009889:98043575:98043853 | 98009735:98009889 | ENSG00000139793.14 | ENST00000343600.4,ENST00000397601.1 |
| exon_skip_100985 | 13 | 98009735:98009889:98017389:98017425:98018712:98018807 | 98017389:98017425 | ENSG00000139793.14 | ENST00000469707.1,ENST00000345429.6 |
| exon_skip_100987 | 13 | 98009735:98009889:98017389:98017425:98043575:98043853 | 98017389:98017425 | ENSG00000139793.14 | ENST00000376673.3 |
| exon_skip_100989 | 13 | 98009735:98009889:98018712:98018807:98043575:98043853 | 98018712:98018807 | ENSG00000139793.14 | ENST00000449284.1 |
| exon_skip_100991 | 13 | 98017389:98017425:98018712:98018807:98043575:98043853 | 98018712:98018807 | ENSG00000139793.14 | ENST00000469707.1,ENST00000345429.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MBNL2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_100975 | 13 | 97874608:97874785:97927885:97928663:97986529:97986694 | 97927885:97928663 | ENSG00000139793.14 | ENST00000343600.4,ENST00000469707.1,ENST00000345429.6,ENST00000376673.3 |
| exon_skip_100977 | 13 | 97928457:97928663:97986529:97986694:97995269:97995470 | 97986529:97986694 | ENSG00000139793.14 | ENST00000397601.1,ENST00000343600.4,ENST00000469707.1,ENST00000345429.6,ENST00000376673.3 |
| exon_skip_100980 | 13 | 97995269:97995470:97999057:97999321:98009735:98009889 | 97999057:97999321 | ENSG00000139793.14 | ENST00000397601.1,ENST00000343600.4,ENST00000345429.6,ENST00000376673.3 |
| exon_skip_100982 | 13 | 97999294:97999321:98009049:98009103:98009735:98009889 | 98009049:98009103 | ENSG00000139793.14 | ENST00000469707.1 |
| exon_skip_100984 | 13 | 97999294:97999321:98009735:98009889:98043575:98043853 | 98009735:98009889 | ENSG00000139793.14 | ENST00000397601.1,ENST00000343600.4 |
| exon_skip_100985 | 13 | 98009735:98009889:98017389:98017425:98018712:98018807 | 98017389:98017425 | ENSG00000139793.14 | ENST00000469707.1,ENST00000345429.6 |
| exon_skip_100987 | 13 | 98009735:98009889:98017389:98017425:98043575:98043853 | 98017389:98017425 | ENSG00000139793.14 | ENST00000376673.3 |
| exon_skip_100989 | 13 | 98009735:98009889:98018712:98018807:98043575:98043853 | 98018712:98018807 | ENSG00000139793.14 | ENST00000449284.1 |
| exon_skip_100991 | 13 | 98017389:98017425:98018712:98018807:98043575:98043853 | 98018712:98018807 | ENSG00000139793.14 | ENST00000469707.1,ENST00000345429.6 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for MBNL2 |
| 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 |
| ENST00000376673 | 97927885 | 97928663 | 5CDS-5UTR |
| ENST00000376673 | 97986529 | 97986694 | In-frame |
| ENST00000376673 | 97999057 | 97999321 | In-frame |
| ENST00000376673 | 98017389 | 98017425 | 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 |
| ENST00000376673 | 97927885 | 97928663 | 5CDS-5UTR |
| ENST00000376673 | 97986529 | 97986694 | In-frame |
| ENST00000376673 | 97999057 | 97999321 | In-frame |
| ENST00000376673 | 98017389 | 98017425 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MBNL2 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| 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 |
| ENST00000376673 | 4591 | 373 | 97986529 | 97986694 | 956 | 1120 | 58 | 113 |
| ENST00000376673 | 4591 | 373 | 97999057 | 97999321 | 1322 | 1585 | 180 | 268 |
| ENST00000376673 | 4591 | 373 | 98017389 | 98017425 | 1740 | 1775 | 319 | 331 |
| 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 |
| ENST00000376673 | 4591 | 373 | 97986529 | 97986694 | 956 | 1120 | 58 | 113 |
| ENST00000376673 | 4591 | 373 | 97999057 | 97999321 | 1322 | 1585 | 180 | 268 |
| ENST00000376673 | 4591 | 373 | 98017389 | 98017425 | 1740 | 1775 | 319 | 331 |
| 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 |
| 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 | 319 | 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 | 319 | 331 | 1 | 373 | Chain | ID=PRO_0000274872;Note=Muscleblind-like protein 2 |
| 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 |
| 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 | 319 | 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 | 319 | 331 | 1 | 373 | Chain | ID=PRO_0000274872;Note=Muscleblind-like protein 2 |
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SNVs in the skipped exons for MBNL2 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - 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-A3A0-01 | exon_skip_100977 | 97986530 | 97986694 | 97986580 | 97986580 | Frame_Shift_Del | A | - | p.L75fs |
| STAD | TCGA-HU-A4GQ-01 | exon_skip_100980 | 97999058 | 97999321 | 97999120 | 97999120 | Frame_Shift_Del | C | - | p.H201fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_100989 exon_skip_100991 | 98018713 | 98018807 | 98018715 | 98018715 | Frame_Shift_Del | C | - | p.P333fs |
| LUAD | TCGA-44-2656-01 | exon_skip_100975 | 97927886 | 97928663 | 97928603 | 97928604 | Frame_Shift_Ins | - | C | p.H38fs |
| DLBC | TCGA-FM-8000-01 | exon_skip_100975 | 97927886 | 97928663 | 97928659 | 97928660 | Frame_Shift_Ins | - | AA | p.L57fs |
| BLCA | TCGA-DK-A3X1-01 | exon_skip_100977 | 97986530 | 97986694 | 97986587 | 97986587 | Nonsense_Mutation | C | T | p.Q78* |
| - 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 |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 98009736 | 98009889 | 98009872 | 98009873 | Frame_Shift_Del | CC | - | p.A315fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 98009736 | 98009889 | 98009866 | 98009867 | Frame_Shift_Ins | - | GC | p.QH312fs |
| NCIH650_LUNG | 97927886 | 97928663 | 97928520 | 97928520 | Missense_Mutation | A | G | p.T11A |
| JAR_PLACENTA | 97927886 | 97928663 | 97928598 | 97928598 | Missense_Mutation | G | T | p.A37S |
| JHH7_LIVER | 97986530 | 97986694 | 97986620 | 97986620 | Missense_Mutation | C | A | p.Q89K |
| HMY1_SKIN | 97986530 | 97986694 | 97986629 | 97986629 | Missense_Mutation | A | G | p.T92A |
| RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 97999058 | 97999321 | 97999116 | 97999116 | Missense_Mutation | C | T | p.A200V |
| OVCAR5_OVARY | 97999058 | 97999321 | 97999142 | 97999142 | Missense_Mutation | G | T | p.D209Y |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 97999058 | 97999321 | 97999149 | 97999150 | Missense_Mutation | GT | AC | p.S211N |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 97999058 | 97999321 | 97999149 | 97999150 | Missense_Mutation | GT | AC | p.S211N |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 97999058 | 97999321 | 97999149 | 97999149 | Missense_Mutation | G | A | p.S211N |
| SNU1040_LARGE_INTESTINE | 97999058 | 97999321 | 97999157 | 97999157 | Missense_Mutation | A | G | p.T214A |
| SNU175_LARGE_INTESTINE | 97999058 | 97999321 | 97999281 | 97999281 | Missense_Mutation | C | T | p.A255V |
| OMC1_CERVIX | 97999058 | 97999321 | 97999307 | 97999307 | Missense_Mutation | G | A | p.A264T |
| OELE_OVARY | 98009736 | 98009889 | 98009754 | 98009754 | Missense_Mutation | C | T | p.L275F |
| BB49HNC_UPPER_AERODIGESTIVE_TRACT | 98009736 | 98009889 | 98009771 | 98009771 | Missense_Mutation | G | C | p.K280N |
| KYSE70_OESOPHAGUS | 98009736 | 98009889 | 98009871 | 98009871 | Missense_Mutation | G | A | p.A314T |
| NCIH630_LARGE_INTESTINE | 98009736 | 98009889 | 98009871 | 98009871 | Missense_Mutation | G | A | p.A314T |
| SNU1040_LARGE_INTESTINE | 98017390 | 98017425 | 98017413 | 98017413 | Missense_Mutation | G | A | p.A328T |
| CAKI1_KIDNEY | 98009736 | 98009889 | 98009736 | 98009736 | Splice_Site | G | C | p.A269P |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MBNL2 |
| 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 MBNL2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MBNL2 |
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RelatedDrugs for MBNL2 |
| 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 |
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RelatedDiseases for MBNL2 |
| 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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