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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 MON2 |
 Gene summary |
| Gene information | Gene symbol | MON2 | Gene ID | 23041 |
| Gene name | MON2 homolog, regulator of endosome-to-Golgi trafficking | |
| Synonyms | - | |
| Cytomap | 12q14.1 | |
| Type of gene | protein-coding | |
| Description | protein MON2 homologMON2 regulator of endosome-to-Golgi trafficking | |
| 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 |
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Gene structures and expression levels for MON2 |
| 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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ENSG00000061987
| 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 |
| CB | UP | ENST00000546600.5 | MON2-203:protein_coding:MON2 | 5.988007e+01 | 1.892502e+00 | 9.124394e-09 | 2.778868e-07 |
| 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 MON2 |
| 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_106895 | chr12 | 62467062:62467318:62498919:62499048:62500783:62500880 | 62498919:62499048 |
| exon_skip_123779 | chr12 | 62538415:62538505:62543097:62543198:62544898:62545008 | 62543097:62543198 |
| exon_skip_124870 | chr12 | 62588074:62588156:62588856:62588916:62592586:62592611 | 62588856:62588916 |
| exon_skip_133290 | chr12 | 62501573:62501698:62508286:62508480:62524515:62524639 | 62508286:62508480 |
| exon_skip_167288 | chr12 | 62467062:62467318:62470701:62470778:62484170:62484229 | 62470701:62470778 |
| exon_skip_176122 | chr12 | 62566322:62566450:62571392:62571582:62578445:62578505 | 62571392:62571582 |
| exon_skip_179735 | chr12 | 62467062:62467318:62484170:62484233:62493915:62493936 | 62484170:62484233 |
| exon_skip_185233 | chr12 | 62549668:62549830:62552881:62553174:62555994:62556192 | 62552881:62553174 |
| exon_skip_194853 | chr12 | 62493915:62494042:62495016:62495147:62498919:62499048 | 62495016:62495147 |
| exon_skip_206939 | chr12 | 62543131:62543198:62544766:62544768:62544898:62545008 | 62544766:62544768 |
| exon_skip_207151 | chr12 | 62588074:62588156:62588856:62588916:62592586:62593278 | 62588856:62588916 |
| exon_skip_211354 | chr12 | 62543097:62543198:62544766:62544768:62544898:62545008 | 62544766:62544768 |
| exon_skip_215962 | chr12 | 62484170:62484233:62490036:62490116:62493915:62493936 | 62490036:62490116 |
| exon_skip_225096 | chr12 | 62565237:62565380:62566014:62566031:62566322:62566450 | 62566014:62566031 |
| exon_skip_234523 | chr12 | 62588074:62588156:62588856:62588916:62592586:62592858 | 62588856:62588916 |
| exon_skip_292491 | chr12 | 62546897:62547072:62549668:62549830:62552881:62553174 | 62549668:62549830 |
| exon_skip_54525 | chr12 | 62585359:62585501:62588074:62588156:62592586:62592858 | 62588074:62588156 |
| exon_skip_6617 | chr12 | 62571392:62571582:62578445:62578505:62580297:62580420 | 62578445:62578505 |
| exon_skip_89723 | chr12 | 62566014:62566031:62566322:62566450:62571392:62571423 | 62566322:62566450 |
| exon_skip_94078 | chr12 | 62467062:62467318:62470701:62470778:62484170:62484233 | 62470701:62470778 |
| 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_211354 | MSBB_PG | 3.076613e-01 | 5.045098e-01 | -1.968485e-01 | 5.265971e-04 |
| exon_skip_225096 | MSBB_PG | 6.146667e-01 | 7.286000e-01 | -1.139333e-01 | 3.015539e-02 |
| exon_skip_206939 | Mayo_TC | 1.862195e-01 | 2.879310e-01 | -1.017115e-01 | 2.687869e-06 |
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Open reading frame (ORF) annotation in the exon skipping event for MON2 |
| 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 |
| ENST00000393630 | 62484170 | 62484233 | Frame-shift |
| ENST00000393630 | 62571392 | 62571582 | Frame-shift |
| ENST00000393630 | 62578445 | 62578505 | Frame-shift |
| ENST00000393630 | 62495016 | 62495147 | In-frame |
| ENST00000393630 | 62508286 | 62508480 | In-frame |
| ENST00000393630 | 62543097 | 62543198 | In-frame |
| ENST00000393630 | 62566014 | 62566031 | 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 |
| ENST00000393630 | 62484170 | 62484233 | Frame-shift |
| ENST00000393630 | 62571392 | 62571582 | Frame-shift |
| ENST00000393630 | 62578445 | 62578505 | Frame-shift |
| ENST00000393630 | 62508286 | 62508480 | In-frame |
| ENST00000393630 | 62552881 | 62553174 | In-frame |
| ENST00000393630 | 62566014 | 62566031 | 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 |
| ENST00000393630 | 62484170 | 62484233 | Frame-shift |
| ENST00000393630 | 62549668 | 62549830 | Frame-shift |
| ENST00000393630 | 62571392 | 62571582 | Frame-shift |
| ENST00000393630 | 62578445 | 62578505 | Frame-shift |
| ENST00000393630 | 62588074 | 62588156 | Frame-shift |
| ENST00000393630 | 62495016 | 62495147 | In-frame |
| ENST00000393630 | 62543097 | 62543198 | In-frame |
| ENST00000393630 | 62552881 | 62553174 | In-frame |
| ENST00000393630 | 62566014 | 62566031 | In-frame |
| ENST00000393630 | 62566322 | 62566450 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MON2 |
p-ENSG00000061987_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 |
| ENST00000393630 | 13292 | 1717 | 62495016 | 62495147 | 696 | 826 | 101 | 145 |
| ENST00000393630 | 13292 | 1717 | 62508286 | 62508480 | 1182 | 1375 | 263 | 328 |
| ENST00000393630 | 13292 | 1717 | 62543097 | 62543198 | 2757 | 2857 | 788 | 822 |
| 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 |
| ENST00000393630 | 13292 | 1717 | 62508286 | 62508480 | 1182 | 1375 | 263 | 328 |
| ENST00000393630 | 13292 | 1717 | 62552881 | 62553174 | 3309 | 3601 | 972 | 1070 |
| 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 |
| ENST00000393630 | 13292 | 1717 | 62495016 | 62495147 | 696 | 826 | 101 | 145 |
| ENST00000393630 | 13292 | 1717 | 62543097 | 62543198 | 2757 | 2857 | 788 | 822 |
| ENST00000393630 | 13292 | 1717 | 62552881 | 62553174 | 3309 | 3601 | 972 | 1070 |
| ENST00000393630 | 13292 | 1717 | 62566322 | 62566450 | 4587 | 4714 | 1398 | 1441 |
| 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 |
| Q7Z3U7 | 101 | 145 | 1 | 1125 | Alternative sequence | ID=VSP_027389;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q7Z3U7 | 101 | 145 | 2 | 1717 | Chain | ID=PRO_0000297902;Note=Protein MON2 homolog |
| Q7Z3U7 | 263 | 328 | 1 | 1125 | Alternative sequence | ID=VSP_027389;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q7Z3U7 | 263 | 328 | 2 | 1717 | Chain | ID=PRO_0000297902;Note=Protein MON2 homolog |
| Q7Z3U7 | 263 | 328 | 268 | 268 | Sequence conflict | Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q7Z3U7 | 788 | 822 | 1 | 1125 | Alternative sequence | ID=VSP_027389;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q7Z3U7 | 788 | 822 | 2 | 1717 | Chain | ID=PRO_0000297902;Note=Protein MON2 homolog |
| Q7Z3U7 | 788 | 822 | 822 | 822 | Sequence conflict | Note=E->EK;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q7Z3U7 | 788 | 822 | 822 | 822 | Sequence conflict | Note=E->EK;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q7Z3U7 | 788 | 822 | 822 | 822 | Sequence conflict | Note=E->EK;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q7Z3U7 | 788 | 822 | 822 | 822 | Sequence conflict | Note=E->EK;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q7Z3U7 | 263 | 328 | 1 | 1125 | Alternative sequence | ID=VSP_027389;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q7Z3U7 | 263 | 328 | 2 | 1717 | Chain | ID=PRO_0000297902;Note=Protein MON2 homolog |
| Q7Z3U7 | 263 | 328 | 268 | 268 | Sequence conflict | Note=S->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q7Z3U7 | 972 | 1070 | 1 | 1125 | Alternative sequence | ID=VSP_027389;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q7Z3U7 | 972 | 1070 | 2 | 1717 | Chain | ID=PRO_0000297902;Note=Protein MON2 homolog |
| Q7Z3U7 | 972 | 1070 | 1002 | 1002 | Sequence conflict | Note=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q7Z3U7 | 101 | 145 | 1 | 1125 | Alternative sequence | ID=VSP_027389;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q7Z3U7 | 101 | 145 | 2 | 1717 | Chain | ID=PRO_0000297902;Note=Protein MON2 homolog |
| Q7Z3U7 | 788 | 822 | 1 | 1125 | Alternative sequence | ID=VSP_027389;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q7Z3U7 | 788 | 822 | 2 | 1717 | Chain | ID=PRO_0000297902;Note=Protein MON2 homolog |
| Q7Z3U7 | 788 | 822 | 822 | 822 | Sequence conflict | Note=E->EK;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q7Z3U7 | 788 | 822 | 822 | 822 | Sequence conflict | Note=E->EK;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q7Z3U7 | 788 | 822 | 822 | 822 | Sequence conflict | Note=E->EK;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q7Z3U7 | 788 | 822 | 822 | 822 | Sequence conflict | Note=E->EK;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q7Z3U7 | 972 | 1070 | 1 | 1125 | Alternative sequence | ID=VSP_027389;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q7Z3U7 | 972 | 1070 | 2 | 1717 | Chain | ID=PRO_0000297902;Note=Protein MON2 homolog |
| Q7Z3U7 | 972 | 1070 | 1002 | 1002 | Sequence conflict | Note=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q7Z3U7 | 1398 | 1441 | 1393 | 1398 | Alternative sequence | ID=VSP_027391;Note=In isoform 3%2C isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q7Z3U7 | 1398 | 1441 | 2 | 1717 | Chain | ID=PRO_0000297902;Note=Protein MON2 homolog |
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3'-UTR located exon skipping events that lost miRNA binding sites in MON2 |
| 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 MON2 |
| - 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 MON2 |
| 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 MON2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| TC | exon_skip_225096 | rs7958597 | chr12:62543479 | 2.123114e-04 | 2.978541e-02 |
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Correlation with RNA binding proteins (RBPs) for MON2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RALYL | exon_skip_225096 | 4.722203e-01 | 5.533718e-10 |
| FL | RALYL | exon_skip_225096 | 6.505220e-01 | 3.060741e-24 |
| IFG | RALYL | exon_skip_225096 | 4.872639e-01 | 8.541311e-03 |
| PCC | RALYL | exon_skip_225096 | 4.216408e-01 | 4.123403e-10 |
| PG | RALYL | exon_skip_225096 | 6.048603e-01 | 2.434717e-18 |
| STG | RALYL | exon_skip_225096 | 5.153178e-01 | 6.197892e-07 |
| TC | RALYL | exon_skip_225096 | 7.038417e-01 | 1.215062e-24 |
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RelatedDrugs for MON2 |
| 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 MON2 |
| 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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