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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 NOTCH2 |
 Gene summary |
| Gene information | Gene symbol | NOTCH2 | Gene ID | 4853 |
| Gene name | notch receptor 2 | |
| Synonyms | AGS2|HJCYS|hN2 | |
| Cytomap | 1p12 | |
| Type of gene | protein-coding | |
| Description | neurogenic locus notch homolog protein 2Notch homolog 2notch 2 | |
| Modification date | 20200329 | |
| 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 |
| NOTCH2 | GO:0007050 | cell cycle arrest | 11306509 |
| NOTCH2 | GO:0007219 | Notch signaling pathway | 11306509|25985737 |
| NOTCH2 | GO:0010629 | negative regulation of gene expression | 11306509 |
| NOTCH2 | GO:0010838 | positive regulation of keratinocyte proliferation | 18469519 |
| NOTCH2 | GO:0045967 | negative regulation of growth rate | 11306509 |
| NOTCH2 | GO:0046579 | positive regulation of Ras protein signal transduction | 11306509 |
| NOTCH2 | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 11306509 |
| NOTCH2 | GO:2000249 | regulation of actin cytoskeleton reorganization | 18469519 |
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Gene structures and expression levels for NOTCH2 |
| 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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ENSG00000134250
| 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 | DOWN | ENST00000650638.1 | NOTCH2-209:lncRNA:NOTCH2 | 8.292692e-01 | -8.732567e-01 | 5.408834e-03 | 2.100822e-02 |
| 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 NOTCH2 |
| 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_131252 | chr1 | 119941526:119941754:119948414:119948566:119949007:119949126 | 119948414:119948566 |
| exon_skip_144920 | chr1 | 120029906:120029987:120051484:120051779:120069334:120069363 | 120051484:120051779 |
| exon_skip_247286 | chr1 | 119986960:119987082:119996997:119997332:120005329:120005588 | 119996997:119997332 |
| exon_skip_249130 | chr1 | 120005329:120005588:120029906:120029987:120069334:120069626 | 120029906:120029987 |
| exon_skip_294761 | chr1 | 119940555:119940756:119941526:119941754:119948414:119948566 | 119941526:119941754 |
| exon_skip_41070 | chr1 | 119969511:119969744:119986960:119987082:119996997:119997332 | 119986960:119987082 |
| exon_skip_67744 | chr1 | 119955040:119955232:119959392:119959502:119963574:119963807 | 119959392:119959502 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for NOTCH2 |
| 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 |
| ENST00000256646 | 119948414 | 119948566 | In-frame |
| ENST00000256646 | 119959392 | 119959502 | In-frame |
| ENST00000256646 | 119986960 | 119987082 | In-frame |
| ENST00000256646 | 119996997 | 119997332 | 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 |
| 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 |
| ENST00000256646 | 119941526 | 119941754 | Frame-shift |
| ENST00000256646 | 119959392 | 119959502 | In-frame |
| ENST00000256646 | 119996997 | 119997332 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NOTCH2 |
p-ENSG00000134250_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 |
| ENST00000256646 | 11406 | 2471 | 119996997 | 119997332 | 636 | 970 | 138 | 250 |
| ENST00000256646 | 11406 | 2471 | 119986960 | 119987082 | 972 | 1093 | 250 | 291 |
| ENST00000256646 | 11406 | 2471 | 119959392 | 119959502 | 2136 | 2245 | 638 | 675 |
| ENST00000256646 | 11406 | 2471 | 119948414 | 119948566 | 2820 | 2971 | 866 | 917 |
| 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 |
| 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 |
| ENST00000256646 | 11406 | 2471 | 119996997 | 119997332 | 636 | 970 | 138 | 250 |
| ENST00000256646 | 11406 | 2471 | 119959392 | 119959502 | 2136 | 2245 | 638 | 675 |
| 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 |
| Q04721 | 138 | 250 | 26 | 2471 | Chain | ID=PRO_0000007683;Note=Neurogenic locus notch homolog protein 2 |
| Q04721 | 138 | 250 | 133 | 142 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 138 | 250 | 148 | 159 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 138 | 250 | 153 | 168 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 138 | 250 | 170 | 179 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 138 | 250 | 186 | 198 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 138 | 250 | 192 | 207 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 138 | 250 | 209 | 218 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 138 | 250 | 225 | 236 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 138 | 250 | 230 | 246 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 138 | 250 | 248 | 257 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 138 | 250 | 105 | 143 | Domain | Note=EGF-like 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| Q04721 | 138 | 250 | 144 | 180 | Domain | Note=EGF-like 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| Q04721 | 138 | 250 | 182 | 219 | Domain | Note=EGF-like 5%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| Q04721 | 138 | 250 | 221 | 258 | Domain | Note=EGF-like 6;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| Q04721 | 138 | 250 | 155 | 155 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q04721 | 138 | 250 | 210 | 210 | Sequence conflict | Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q04721 | 138 | 250 | 26 | 1677 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q04721 | 250 | 291 | 26 | 2471 | Chain | ID=PRO_0000007683;Note=Neurogenic locus notch homolog protein 2 |
| Q04721 | 250 | 291 | 248 | 257 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 250 | 291 | 264 | 275 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 250 | 291 | 269 | 284 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 250 | 291 | 286 | 295 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 250 | 291 | 221 | 258 | Domain | Note=EGF-like 6;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| Q04721 | 250 | 291 | 260 | 296 | Domain | Note=EGF-like 7%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| Q04721 | 250 | 291 | 26 | 1677 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q04721 | 638 | 675 | 26 | 2471 | Chain | ID=PRO_0000007683;Note=Neurogenic locus notch homolog protein 2 |
| Q04721 | 638 | 675 | 633 | 642 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 638 | 675 | 649 | 659 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 638 | 675 | 654 | 668 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 638 | 675 | 670 | 679 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 638 | 675 | 607 | 643 | Domain | Note=EGF-like 16%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| Q04721 | 638 | 675 | 645 | 680 | Domain | Note=EGF-like 17%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| Q04721 | 638 | 675 | 26 | 1677 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q04721 | 866 | 917 | 26 | 2471 | Chain | ID=PRO_0000007683;Note=Neurogenic locus notch homolog protein 2 |
| Q04721 | 866 | 917 | 861 | 870 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 866 | 917 | 877 | 888 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 866 | 917 | 882 | 897 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 866 | 917 | 899 | 908 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 866 | 917 | 915 | 926 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 866 | 917 | 833 | 871 | Domain | Note=EGF-like 22;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| Q04721 | 866 | 917 | 873 | 909 | Domain | Note=EGF-like 23%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| Q04721 | 866 | 917 | 911 | 947 | Domain | Note=EGF-like 24%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| Q04721 | 866 | 917 | 26 | 1677 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| 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 |
| Q04721 | 138 | 250 | 26 | 2471 | Chain | ID=PRO_0000007683;Note=Neurogenic locus notch homolog protein 2 |
| Q04721 | 138 | 250 | 133 | 142 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 138 | 250 | 148 | 159 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 138 | 250 | 153 | 168 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 138 | 250 | 170 | 179 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 138 | 250 | 186 | 198 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 138 | 250 | 192 | 207 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 138 | 250 | 209 | 218 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 138 | 250 | 225 | 236 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 138 | 250 | 230 | 246 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 138 | 250 | 248 | 257 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 138 | 250 | 105 | 143 | Domain | Note=EGF-like 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| Q04721 | 138 | 250 | 144 | 180 | Domain | Note=EGF-like 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| Q04721 | 138 | 250 | 182 | 219 | Domain | Note=EGF-like 5%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| Q04721 | 138 | 250 | 221 | 258 | Domain | Note=EGF-like 6;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| Q04721 | 138 | 250 | 155 | 155 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q04721 | 138 | 250 | 210 | 210 | Sequence conflict | Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q04721 | 138 | 250 | 26 | 1677 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q04721 | 638 | 675 | 26 | 2471 | Chain | ID=PRO_0000007683;Note=Neurogenic locus notch homolog protein 2 |
| Q04721 | 638 | 675 | 633 | 642 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 638 | 675 | 649 | 659 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 638 | 675 | 654 | 668 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 638 | 675 | 670 | 679 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q04721 | 638 | 675 | 607 | 643 | Domain | Note=EGF-like 16%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| Q04721 | 638 | 675 | 645 | 680 | Domain | Note=EGF-like 17%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| Q04721 | 638 | 675 | 26 | 1677 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in NOTCH2 |
| 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 NOTCH2 |
| - 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 NOTCH2 |
| 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 NOTCH2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for NOTCH2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for NOTCH2 |
| 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 NOTCH2 |
| 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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