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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 GSN |
 Gene summary |
| Gene information | Gene symbol | GSN | Gene ID | 2934 |
| Gene name | gelsolin | |
| Synonyms | ADF|AGEL | |
| Cytomap | 9q33.2 | |
| Type of gene | protein-coding | |
| Description | gelsolinactin-depolymerizing factorbrevinepididymis secretory sperm binding protein | |
| Modification date | 20200329 | |
| UniProtAcc | ||
| Context | - 24486299(Trichostatin A Increases the Levels of Plasma Gelsolin and Amyloid Beta-Protein in a Transgenic Mouse Model of Alzheimer's Disease) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| GSN | GO:0030041 | actin filament polymerization | 3020431 |
| GSN | GO:0051014 | actin filament severing | 3020431 |
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Gene structures and expression levels for GSN |
| 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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ENSG00000148180
| 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 | ENST00000394353.7 | GSN-206:protein_coding:GSN | 9.465988e+01 | 1.514348e+00 | 2.203690e-04 | 9.800187e-03 |
| PG | UP | ENST00000483960.5 | GSN-213:lncRNA:GSN | 7.557698e-01 | 1.133878e+00 | 5.342201e-03 | 4.786340e-02 |
| CB | DOWN | ENST00000373806.1 | GSN-201:nonsense_mediated_decay:GSN | 2.766310e+02 | -1.116581e+00 | 1.642977e-07 | 3.228218e-06 |
| TC | UP | ENST00000477863.5 | GSN-212:lncRNA:GSN | 2.082947e+01 | 1.177345e+00 | 1.287849e-08 | 1.112062e-06 |
| TC | DOWN | ENST00000373806.1 | GSN-201:nonsense_mediated_decay:GSN | 3.588301e+02 | -8.196852e-01 | 8.290217e-07 | 3.459270e-05 |
| TC | UP | ENST00000394353.7 | GSN-206:protein_coding:GSN | 1.487941e+03 | 1.511966e+00 | 1.128024e-05 | 2.847614e-04 |
| 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 GSN |
| 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_115253 | chr9 | 121281472:121281562:121300056:121300126:121301963:121302149 | 121300056:121300126 |
| exon_skip_121753 | chr9 | 121281533:121281562:121282439:121282550:121301963:121302149 | 121282439:121282550 |
| exon_skip_147320 | chr9 | 121327369:121327482:121328891:121329015:121329238:121329315 | 121328891:121329015 |
| exon_skip_152144 | chr9 | 121297786:121297842:121300056:121300126:121301963:121302149 | 121300056:121300126 |
| exon_skip_16568 | chr9 | 121310684:121310845:121312339:121312488:121313934:121314023 | 121312339:121312488 |
| exon_skip_189879 | chr9 | 121297766:121297842:121300056:121300126:121301963:121302149 | 121300056:121300126 |
| exon_skip_190514 | chr9 | 121268168:121268219:121281470:121281562:121300056:121300126 | 121281470:121281562 |
| exon_skip_196825 | chr9 | 121310688:121310845:121312339:121312488:121313934:121314023 | 121312339:121312488 |
| exon_skip_209715 | chr9 | 121318772:121318880:121321268:121321401:121324554:121324644 | 121321268:121321401 |
| exon_skip_239630 | chr9 | 121283319:121283392:121297766:121297842:121300056:121300126 | 121297766:121297842 |
| exon_skip_241144 | chr9 | 121281533:121281562:121300056:121300126:121301963:121302149 | 121300056:121300126 |
| exon_skip_245324 | chr9 | 121268168:121268219:121281470:121281562:121301963:121302149 | 121281470:121281562 |
| exon_skip_248367 | chr9 | 121318735:121318880:121321268:121321401:121324554:121324644 | 121321268:121321401 |
| exon_skip_270974 | chr9 | 121281533:121281562:121282439:121282550:121283319:121283392 | 121282439:121282550 |
| exon_skip_272215 | chr9 | 121312339:121312488:121313934:121314023:121317086:121317112 | 121313934:121314023 |
| exon_skip_283510 | chr9 | 121286123:121286185:121300056:121300126:121301963:121302149 | 121300056:121300126 |
| exon_skip_36503 | chr9 | 121281472:121281562:121282439:121282550:121283319:121283392 | 121282439:121282550 |
| exon_skip_55841 | chr9 | 121327308:121327482:121328891:121329015:121329238:121329315 | 121328891:121329015 |
| exon_skip_93714 | chr9 | 121281472:121281562:121282439:121282550:121301963:121302149 | 121282439:121282550 |
| 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 GSN |
| 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 |
| ENST00000373818 | 121321268 | 121321401 | Frame-shift |
| ENST00000373818 | 121328891 | 121329015 | Frame-shift |
| ENST00000373818 | 121312339 | 121312488 | In-frame |
| ENST00000373818 | 121313934 | 121314023 | 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 |
| ENST00000373818 | 121321268 | 121321401 | Frame-shift |
| ENST00000373818 | 121312339 | 121312488 | 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 |
| ENST00000373818 | 121321268 | 121321401 | Frame-shift |
| ENST00000373818 | 121328891 | 121329015 | Frame-shift |
| ENST00000373818 | 121312339 | 121312488 | In-frame |
| ENST00000373818 | 121313934 | 121314023 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GSN |
p-ENSG00000148180_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 |
| ENST00000373818 | 2674 | 782 | 121312339 | 121312488 | 737 | 885 | 222 | 272 |
| ENST00000373818 | 2674 | 782 | 121313934 | 121314023 | 887 | 975 | 272 | 302 |
| 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 |
| ENST00000373818 | 2674 | 782 | 121312339 | 121312488 | 737 | 885 | 222 | 272 |
| 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 |
| ENST00000373818 | 2674 | 782 | 121312339 | 121312488 | 737 | 885 | 222 | 272 |
| ENST00000373818 | 2674 | 782 | 121313934 | 121314023 | 887 | 975 | 272 | 302 |
| 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 |
| P06396 | 222 | 272 | 221 | 228 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5FAF |
| P06396 | 222 | 272 | 256 | 262 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5FAF |
| P06396 | 222 | 272 | 28 | 782 | Chain | ID=PRO_0000036385;Note=Gelsolin |
| P06396 | 222 | 272 | 215 | 228 | Disulfide bond | Note=In isoform 1;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8703941,ECO:0000269|PubMed:9003812;Dbxref=PMID:8703941,PMID:9003812 |
| P06396 | 222 | 272 | 234 | 251 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5FAF |
| P06396 | 222 | 272 | 268 | 274 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5FAF |
| P06396 | 222 | 272 | 231 | 231 | Natural variant | ID=VAR_061982;Note=N->D;Dbxref=dbSNP:rs11550199 |
| P06396 | 222 | 272 | 198 | 238 | Repeat | Note=Gelsolin-like 2 |
| P06396 | 222 | 272 | 263 | 265 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FFK |
| P06396 | 272 | 302 | 299 | 304 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FFK |
| P06396 | 272 | 302 | 28 | 782 | Chain | ID=PRO_0000036385;Note=Gelsolin |
| P06396 | 272 | 302 | 268 | 274 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5FAF |
| P06396 | 272 | 302 | 288 | 294 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FFK |
| P06396 | 272 | 302 | 294 | 294 | Sequence conflict | Note=N->D;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 |
| P06396 | 222 | 272 | 221 | 228 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5FAF |
| P06396 | 222 | 272 | 256 | 262 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5FAF |
| P06396 | 222 | 272 | 28 | 782 | Chain | ID=PRO_0000036385;Note=Gelsolin |
| P06396 | 222 | 272 | 215 | 228 | Disulfide bond | Note=In isoform 1;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8703941,ECO:0000269|PubMed:9003812;Dbxref=PMID:8703941,PMID:9003812 |
| P06396 | 222 | 272 | 234 | 251 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5FAF |
| P06396 | 222 | 272 | 268 | 274 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5FAF |
| P06396 | 222 | 272 | 231 | 231 | Natural variant | ID=VAR_061982;Note=N->D;Dbxref=dbSNP:rs11550199 |
| P06396 | 222 | 272 | 198 | 238 | Repeat | Note=Gelsolin-like 2 |
| P06396 | 222 | 272 | 263 | 265 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FFK |
| 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 |
| P06396 | 222 | 272 | 221 | 228 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5FAF |
| P06396 | 222 | 272 | 256 | 262 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5FAF |
| P06396 | 222 | 272 | 28 | 782 | Chain | ID=PRO_0000036385;Note=Gelsolin |
| P06396 | 222 | 272 | 215 | 228 | Disulfide bond | Note=In isoform 1;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8703941,ECO:0000269|PubMed:9003812;Dbxref=PMID:8703941,PMID:9003812 |
| P06396 | 222 | 272 | 234 | 251 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5FAF |
| P06396 | 222 | 272 | 268 | 274 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5FAF |
| P06396 | 222 | 272 | 231 | 231 | Natural variant | ID=VAR_061982;Note=N->D;Dbxref=dbSNP:rs11550199 |
| P06396 | 222 | 272 | 198 | 238 | Repeat | Note=Gelsolin-like 2 |
| P06396 | 222 | 272 | 263 | 265 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FFK |
| P06396 | 272 | 302 | 299 | 304 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FFK |
| P06396 | 272 | 302 | 28 | 782 | Chain | ID=PRO_0000036385;Note=Gelsolin |
| P06396 | 272 | 302 | 268 | 274 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5FAF |
| P06396 | 272 | 302 | 288 | 294 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FFK |
| P06396 | 272 | 302 | 294 | 294 | Sequence conflict | Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in GSN |
| 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 GSN |
| - 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 GSN |
| 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 GSN |
| 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 GSN |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | ZNF638 | exon_skip_115253 | -4.627833e-01 | 8.161688e-10 |
| CB | PCBP4 | exon_skip_115253 | 4.007767e-01 | 1.651195e-07 |
| CB | NUP42 | exon_skip_115253 | 4.289428e-01 | 1.688644e-08 |
| IFG | PCBP4 | exon_skip_115253 | 5.473225e-01 | 2.575354e-03 |
| IFG | PCBP4 | exon_skip_73129 | 4.747621e-01 | 1.068572e-02 |
| STG | SRSF2 | exon_skip_115253 | 4.067559e-01 | 5.211118e-05 |
| TC | SRSF2 | exon_skip_241144 | 4.985773e-01 | 1.954821e-11 |
| TC | PCBP4 | exon_skip_241144 | 5.605308e-01 | 1.280703e-14 |
| TC | SRSF2 | exon_skip_242764 | 4.616381e-01 | 8.041490e-10 |
| TC | PCBP4 | exon_skip_242764 | 5.613403e-01 | 1.151811e-14 |
| TC | SRSF2 | exon_skip_89606 | 4.052349e-01 | 9.890563e-07 |
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RelatedDrugs for GSN |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P06396 | approved|investigational | DB01593 | Zinc | small molecule | P06396 |
| P06396 | approved|investigational | DB14487 | Zinc acetate | small molecule | P06396 |
| P06396 | approved|investigational | DB14533 | Zinc chloride | small molecule | P06396 |
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RelatedDiseases for GSN |
| 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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