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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 ITSN2 |
 Gene summary |
| Gene information | Gene symbol | ITSN2 | Gene ID | 50618 |
| Gene name | intersectin 2 | |
| Synonyms | PRO2015|SH3D1B|SH3P18|SWA|SWAP | |
| Cytomap | 2p23.3 | |
| Type of gene | protein-coding | |
| Description | intersectin-2SH3 domain-containing protein 1BSH3P18-like WASP-associated protein | |
| 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 |
| ITSN2 | GO:1903861 | positive regulation of dendrite extension | 23999003 |
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Gene structures and expression levels for ITSN2 |
| 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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ENSG00000198399
| 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 |
| PCC | UP | ENST00000427234.5 | ITSN2-207:nonsense_mediated_decay:ITSN2 | 2.907032e+00 | 1.121303e+00 | 5.899312e-04 | 1.830018e-02 |
| STG | UP | ENST00000622089.4 | ITSN2-213:protein_coding:ITSN2 | 3.113908e+01 | 7.276932e+00 | 1.834325e-05 | 3.967998e-03 |
| CB | UP | ENST00000443927.5 | ITSN2-208:protein_coding:ITSN2 | 2.580385e+00 | 8.424929e-01 | 4.052096e-03 | 1.654224e-02 |
| TC | UP | ENST00000443927.5 | ITSN2-208:protein_coding:ITSN2 | 2.130711e+00 | 9.818128e-01 | 5.586447e-04 | 6.275105e-03 |
| 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 ITSN2 |
| 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_109876 | chr2 | 24205266:24205297:24206244:24206275:24208237:24208316 | 24206244:24206275 |
| exon_skip_116103 | chr2 | 24286323:24286351:24293688:24293775:24295664:24295711 | 24293688:24293775 |
| exon_skip_118937 | chr2 | 24254367:24254431:24257888:24258093:24261106:24261250 | 24257888:24258093 |
| exon_skip_126183 | chr2 | 24298665:24298814:24299909:24300171:24301154:24301239 | 24299909:24300171 |
| exon_skip_130023 | chr2 | 24275713:24275849:24284763:24284843:24286212:24286351 | 24284763:24284843 |
| exon_skip_146815 | chr2 | 24208237:24208319:24209100:24209221:24209818:24209948 | 24209100:24209221 |
| exon_skip_151476 | chr2 | 24205214:24205297:24206244:24206275:24208237:24208316 | 24206244:24206275 |
| exon_skip_166398 | chr2 | 24303799:24303862:24308617:24308756:24310284:24310380 | 24308617:24308756 |
| exon_skip_179850 | chr2 | 24310344:24310380:24310489:24310692:24312212:24312375 | 24310489:24310692 |
| exon_skip_184205 | chr2 | 24315132:24315224:24328052:24328115:24360304:24360309 | 24328052:24328115 |
| exon_skip_204224 | chr2 | 24275713:24275849:24284763:24284843:24286212:24286345 | 24284763:24284843 |
| exon_skip_213010 | chr2 | 24312212:24312375:24313460:24313523:24315132:24315221 | 24313460:24313523 |
| exon_skip_247657 | chr2 | 24312212:24312375:24313460:24313523:24315132:24315224 | 24313460:24313523 |
| exon_skip_266219 | chr2 | 24254367:24254431:24257888:24258093:24261106:24261165 | 24257888:24258093 |
| exon_skip_3079 | chr2 | 24275713:24275849:24286212:24286351:24293688:24293775 | 24286212:24286351 |
| exon_skip_43562 | chr2 | 24275794:24275849:24284763:24284843:24286212:24286351 | 24284763:24284843 |
| exon_skip_97221 | chr2 | 24217907:24218013:24220945:24221066:24246129:24246320 | 24220945:24221066 |
| 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_204224 | MSBB_PG | 3.705882e-01 | 5.638889e-01 | -1.933007e-01 | 3.035619e-05 |
| exon_skip_130023 | Mayo_CB | 3.227500e-01 | 4.660937e-01 | -1.433438e-01 | 1.253851e-06 |
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Open reading frame (ORF) annotation in the exon skipping event for ITSN2 |
| 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 |
| ENST00000355123 | 24209100 | 24209221 | Frame-shift |
| ENST00000355123 | 24257888 | 24258093 | Frame-shift |
| ENST00000355123 | 24299909 | 24300171 | Frame-shift |
| ENST00000355123 | 24308617 | 24308756 | Frame-shift |
| ENST00000355123 | 24313460 | 24313523 | Frame-shift |
| ENST00000355123 | 24284763 | 24284843 | 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 |
| ENST00000355123 | 24209100 | 24209221 | Frame-shift |
| ENST00000355123 | 24220945 | 24221066 | Frame-shift |
| ENST00000355123 | 24257888 | 24258093 | Frame-shift |
| ENST00000355123 | 24293688 | 24293775 | Frame-shift |
| ENST00000355123 | 24299909 | 24300171 | Frame-shift |
| ENST00000355123 | 24313460 | 24313523 | Frame-shift |
| ENST00000355123 | 24284763 | 24284843 | 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 |
| ENST00000355123 | 24328052 | 24328115 | 3UTR-3CDS |
| ENST00000355123 | 24209100 | 24209221 | Frame-shift |
| ENST00000355123 | 24220945 | 24221066 | Frame-shift |
| ENST00000355123 | 24257888 | 24258093 | Frame-shift |
| ENST00000355123 | 24293688 | 24293775 | Frame-shift |
| ENST00000355123 | 24299909 | 24300171 | Frame-shift |
| ENST00000355123 | 24308617 | 24308756 | Frame-shift |
| ENST00000355123 | 24313460 | 24313523 | Frame-shift |
| ENST00000355123 | 24284763 | 24284843 | In-frame |
| ENST00000355123 | 24310489 | 24310692 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ITSN2 |
p-ENSG00000198399_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 |
| ENST00000355123 | 6317 | 1697 | 24284763 | 24284843 | 2308 | 2387 | 621 | 647 |
| 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 |
| ENST00000355123 | 6317 | 1697 | 24284763 | 24284843 | 2308 | 2387 | 621 | 647 |
| 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 |
| ENST00000355123 | 6317 | 1697 | 24310489 | 24310692 | 797 | 999 | 117 | 185 |
| ENST00000355123 | 6317 | 1697 | 24284763 | 24284843 | 2308 | 2387 | 621 | 647 |
| 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 |
| Q9NZM3 | 621 | 647 | 622 | 648 | Alternative sequence | ID=VSP_003892;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10574462,ECO:0000303|PubMed:14702039,ECO:0000303|Ref.2;Dbxref=PMID:10574462,PMID:14702039 |
| Q9NZM3 | 621 | 647 | 1 | 1697 | Chain | ID=PRO_0000080961;Note=Intersectin-2 |
| Q9NZM3 | 621 | 647 | 361 | 756 | Coiled coil | 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 |
| Q9NZM3 | 621 | 647 | 622 | 648 | Alternative sequence | ID=VSP_003892;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10574462,ECO:0000303|PubMed:14702039,ECO:0000303|Ref.2;Dbxref=PMID:10574462,PMID:14702039 |
| Q9NZM3 | 621 | 647 | 1 | 1697 | Chain | ID=PRO_0000080961;Note=Intersectin-2 |
| Q9NZM3 | 621 | 647 | 361 | 756 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q9NZM3 | 117 | 185 | 1 | 1697 | Chain | ID=PRO_0000080961;Note=Intersectin-2 |
| Q9NZM3 | 621 | 647 | 622 | 648 | Alternative sequence | ID=VSP_003892;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10574462,ECO:0000303|PubMed:14702039,ECO:0000303|Ref.2;Dbxref=PMID:10574462,PMID:14702039 |
| Q9NZM3 | 621 | 647 | 1 | 1697 | Chain | ID=PRO_0000080961;Note=Intersectin-2 |
| Q9NZM3 | 621 | 647 | 361 | 756 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ITSN2 |
| 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 ITSN2 |
| - 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 ITSN2 |
| 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 ITSN2 |
| 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 ITSN2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM6 | exon_skip_146815 | -4.431368e-01 | 6.176001e-09 |
| CB | TRA2A | exon_skip_146815 | -4.414647e-01 | 7.147341e-09 |
| CB | ZNF638 | exon_skip_130023 | -5.846254e-01 | 1.433995e-14 |
| CB | NUP42 | exon_skip_130023 | 6.774055e-01 | 1.134082e-20 |
| FL | G3BP2 | exon_skip_130023 | 6.465611e-01 | 7.086209e-24 |
| FL | NUP42 | exon_skip_130023 | 4.797696e-01 | 2.492052e-12 |
| FL | RALYL | exon_skip_130023 | 5.352934e-01 | 1.765930e-15 |
| FL | CELF1 | exon_skip_130023 | 4.122917e-01 | 3.409230e-09 |
| FL | ZCRB1 | exon_skip_130023 | 4.231231e-01 | 1.187155e-09 |
| HCC | ZNF638 | exon_skip_130023 | -4.606163e-01 | 2.857426e-15 |
| HCC | G3BP2 | exon_skip_130023 | 4.566430e-01 | 5.274590e-15 |
| HCC | RBM41 | exon_skip_130023 | -4.632479e-01 | 1.895593e-15 |
| IFG | G3BP2 | exon_skip_130023 | 6.078145e-01 | 6.018406e-04 |
| IFG | NUP42 | exon_skip_130023 | 4.194661e-01 | 2.628117e-02 |
| IFG | ELAVL1 | exon_skip_247657 | -5.120185e-01 | 7.495489e-03 |
| IFG | U2AF2 | exon_skip_247657 | -4.807845e-01 | 1.290869e-02 |
| IFG | TIA1 | exon_skip_247657 | -4.347964e-01 | 2.643591e-02 |
| IFG | SNRPA | exon_skip_247657 | -4.622593e-01 | 1.742565e-02 |
| IFG | HNRNPA0 | exon_skip_247657 | -4.339270e-01 | 2.677315e-02 |
| IFG | RALYL | exon_skip_247657 | -7.019454e-01 | 6.427657e-05 |
| IFG | KHDRBS3 | exon_skip_180877 | 4.933415e-01 | 1.221030e-02 |
| IFG | SRSF9 | exon_skip_180877 | 4.613670e-01 | 2.026347e-02 |
| PCC | G3BP2 | exon_skip_130023 | 6.424940e-01 | 6.587524e-25 |
| STG | G3BP2 | exon_skip_130023 | 5.142833e-01 | 6.584694e-07 |
| STG | NUP42 | exon_skip_130023 | 5.055092e-01 | 1.091681e-06 |
| STG | RALYL | exon_skip_130023 | 5.575795e-01 | 4.362008e-08 |
| STG | CELF1 | exon_skip_130023 | 4.173605e-01 | 8.658691e-05 |
| TC | MBNL1 | exon_skip_130023 | 4.392268e-01 | 1.208296e-08 |
| TC | G3BP2 | exon_skip_130023 | 7.697088e-01 | 1.975489e-31 |
| TC | HNRNPD | exon_skip_130023 | 6.634575e-01 | 6.869051e-21 |
| TC | NUP42 | exon_skip_130023 | 7.149612e-01 | 2.134966e-25 |
| TC | RALYL | exon_skip_130023 | 8.308494e-01 | 1.584565e-40 |
| TC | PTBP3 | exon_skip_130023 | 5.213654e-01 | 4.130163e-12 |
| TC | CELF1 | exon_skip_130023 | 5.694846e-01 | 1.287680e-14 |
| TC | EWSR1 | exon_skip_130023 | 4.316058e-01 | 2.288831e-08 |
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RelatedDrugs for ITSN2 |
| 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 ITSN2 |
| 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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