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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 FBLN2 |
 Gene summary |
| Gene information | Gene symbol | FBLN2 | Gene ID | 2199 |
| Gene name | fibulin 2 | |
| Synonyms | - | |
| Cytomap | 3p25.1 | |
| Type of gene | protein-coding | |
| Description | fibulin-2FIBL-2 | |
| 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 FBLN2 |
| 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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ENSG00000163520
| 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. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| 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 FBLN2 |
| 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_29634 | chr3 | 13629820:13629945:13630699:13630815:13631329:13631457 | 13630699:13630815 |
| exon_skip_80062 | chr3 | 13619730:13619831:13626445:13626579:13627832:13627969 | 13626445:13626579 |
| exon_skip_82969 | chr3 | 13619730:13619831:13621775:13621915:13626445:13626579 | 13621775:13621915 |
| 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 FBLN2 |
| 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 |
| ENST00000295760 | 13630699 | 13630815 | 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 |
| ENST00000295760 | 13630699 | 13630815 | 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 |
| ENST00000295760 | 13626445 | 13626579 | In-frame |
| ENST00000295760 | 13630699 | 13630815 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FBLN2 |
p-ENSG00000163520_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 |
| ENST00000295760 | 4144 | 1184 | 13630699 | 13630815 | 2898 | 3013 | 943 | 981 |
| 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 |
| ENST00000295760 | 4144 | 1184 | 13630699 | 13630815 | 2898 | 3013 | 943 | 981 |
| 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 |
| ENST00000295760 | 4144 | 1184 | 13626445 | 13626579 | 2226 | 2359 | 719 | 763 |
| ENST00000295760 | 4144 | 1184 | 13630699 | 13630815 | 2898 | 3013 | 943 | 981 |
| 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 |
| P98095 | 943 | 981 | 28 | 1184 | Chain | ID=PRO_0000007568;Note=Fibulin-2 |
| P98095 | 943 | 981 | 947 | 956 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P98095 | 943 | 981 | 952 | 965 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P98095 | 943 | 981 | 967 | 980 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P98095 | 943 | 981 | 943 | 981 | Domain | Note=EGF-like 8%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| 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 |
| P98095 | 943 | 981 | 28 | 1184 | Chain | ID=PRO_0000007568;Note=Fibulin-2 |
| P98095 | 943 | 981 | 947 | 956 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P98095 | 943 | 981 | 952 | 965 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P98095 | 943 | 981 | 967 | 980 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P98095 | 943 | 981 | 943 | 981 | Domain | Note=EGF-like 8%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| 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 |
| P98095 | 719 | 763 | 28 | 1184 | Chain | ID=PRO_0000007568;Note=Fibulin-2 |
| P98095 | 719 | 763 | 723 | 736 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P98095 | 719 | 763 | 730 | 745 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P98095 | 719 | 763 | 751 | 762 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P98095 | 719 | 763 | 719 | 763 | Domain | Note=EGF-like 3%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| P98095 | 943 | 981 | 28 | 1184 | Chain | ID=PRO_0000007568;Note=Fibulin-2 |
| P98095 | 943 | 981 | 947 | 956 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P98095 | 943 | 981 | 952 | 965 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P98095 | 943 | 981 | 967 | 980 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P98095 | 943 | 981 | 943 | 981 | Domain | Note=EGF-like 8%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
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3'-UTR located exon skipping events that lost miRNA binding sites in FBLN2 |
| 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 FBLN2 |
| - 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 FBLN2 |
| 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 FBLN2 |
| 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 FBLN2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for FBLN2 |
| 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 FBLN2 |
| 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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