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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 FOCAD |
 Gene summary |
| Gene information | Gene symbol | FOCAD | Gene ID | 54914 |
| Gene name | focadhesin | |
| Synonyms | KIAA1797 | |
| Cytomap | 9p21.3 | |
| Type of gene | protein-coding | |
| Description | focadhesin | |
| 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 FOCAD |
| 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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ENSG00000188352
| 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 FOCAD |
| 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_112723 | chr9 | 20758090:20758191:20764874:20765073:20770032:20770112 | 20764874:20765073 |
| exon_skip_15087 | chr9 | 20862578:20862712:20863421:20863550:20865926:20865967 | 20863421:20863550 |
| exon_skip_170112 | chr9 | 20758090:20758191:20764869:20765073:20770032:20770112 | 20764869:20765073 |
| exon_skip_1704 | chr9 | 20720380:20720534:20740236:20740340:20758090:20758191 | 20740236:20740340 |
| exon_skip_177252 | chr9 | 20976420:20976548:20978339:20978454:20981426:20981461 | 20978339:20978454 |
| exon_skip_207492 | chr9 | 20658691:20658826:20694520:20694564:20715322:20715410 | 20694520:20694564 |
| exon_skip_249584 | chr9 | 20789351:20789608:20819796:20819900:20820324:20820425 | 20819796:20819900 |
| exon_skip_251249 | chr9 | 20981426:20981686:20982357:20982446:20986288:20986465 | 20982357:20982446 |
| exon_skip_259992 | chr9 | 20820389:20820425:20820941:20821061:20822989:20823049 | 20820941:20821061 |
| exon_skip_284890 | chr9 | 20820389:20820425:20820941:20821071:20822989:20823049 | 20820941:20821071 |
| exon_skip_73421 | chr9 | 20885109:20885230:20907150:20907242:20912866:20912908 | 20907150:20907242 |
| exon_skip_79275 | chr9 | 20916893:20916937:20923660:20923768:20926301:20926417 | 20923660:20923768 |
| 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 FOCAD |
| 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 |
| ENST00000380249 | 20694520 | 20694564 | 5UTR-5UTR |
| ENST00000338382 | 20820941 | 20821071 | Frame-shift |
| ENST00000380249 | 20820941 | 20821071 | Frame-shift |
| ENST00000338382 | 20923660 | 20923768 | Frame-shift |
| ENST00000380249 | 20923660 | 20923768 | Frame-shift |
| ENST00000338382 | 20978339 | 20978454 | Frame-shift |
| ENST00000380249 | 20978339 | 20978454 | Frame-shift |
| ENST00000338382 | 20740236 | 20740340 | In-frame |
| ENST00000380249 | 20740236 | 20740340 | In-frame |
| ENST00000338382 | 20819796 | 20819900 | In-frame |
| ENST00000380249 | 20819796 | 20819900 | In-frame |
| ENST00000338382 | 20907150 | 20907242 | In-frame |
| ENST00000380249 | 20907150 | 20907242 | In-frame |
| ENST00000338382 | 20982357 | 20982446 | In-frame |
| ENST00000380249 | 20982357 | 20982446 | 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 |
| ENST00000380249 | 20694520 | 20694564 | 5UTR-5UTR |
| ENST00000338382 | 20764869 | 20765073 | Frame-shift |
| ENST00000380249 | 20764869 | 20765073 | Frame-shift |
| ENST00000338382 | 20923660 | 20923768 | Frame-shift |
| ENST00000380249 | 20923660 | 20923768 | Frame-shift |
| ENST00000338382 | 20978339 | 20978454 | Frame-shift |
| ENST00000380249 | 20978339 | 20978454 | Frame-shift |
| ENST00000338382 | 20740236 | 20740340 | In-frame |
| ENST00000380249 | 20740236 | 20740340 | In-frame |
| ENST00000338382 | 20819796 | 20819900 | In-frame |
| ENST00000380249 | 20819796 | 20819900 | In-frame |
| ENST00000338382 | 20907150 | 20907242 | In-frame |
| ENST00000380249 | 20907150 | 20907242 | 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 |
| ENST00000380249 | 20694520 | 20694564 | 5UTR-5UTR |
| ENST00000338382 | 20764869 | 20765073 | Frame-shift |
| ENST00000380249 | 20764869 | 20765073 | Frame-shift |
| ENST00000338382 | 20923660 | 20923768 | Frame-shift |
| ENST00000380249 | 20923660 | 20923768 | Frame-shift |
| ENST00000338382 | 20978339 | 20978454 | Frame-shift |
| ENST00000380249 | 20978339 | 20978454 | Frame-shift |
| ENST00000338382 | 20740236 | 20740340 | In-frame |
| ENST00000380249 | 20740236 | 20740340 | In-frame |
| ENST00000338382 | 20819796 | 20819900 | In-frame |
| ENST00000380249 | 20819796 | 20819900 | In-frame |
| ENST00000338382 | 20907150 | 20907242 | In-frame |
| ENST00000380249 | 20907150 | 20907242 | In-frame |
| ENST00000338382 | 20982357 | 20982446 | In-frame |
| ENST00000380249 | 20982357 | 20982446 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FOCAD |
p-ENSG00000188352_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 |
| ENST00000338382 | 5782 | 1801 | 20740236 | 20740340 | 322 | 425 | 96 | 130 |
| ENST00000380249 | 6113 | 1801 | 20740236 | 20740340 | 653 | 756 | 96 | 130 |
| ENST00000338382 | 5782 | 1801 | 20819796 | 20819900 | 1490 | 1593 | 485 | 520 |
| ENST00000380249 | 6113 | 1801 | 20819796 | 20819900 | 1821 | 1924 | 485 | 520 |
| ENST00000338382 | 5782 | 1801 | 20907150 | 20907242 | 2660 | 2751 | 875 | 906 |
| ENST00000380249 | 6113 | 1801 | 20907150 | 20907242 | 2991 | 3082 | 875 | 906 |
| ENST00000338382 | 5782 | 1801 | 20982357 | 20982446 | 4673 | 4761 | 1546 | 1576 |
| ENST00000380249 | 6113 | 1801 | 20982357 | 20982446 | 5004 | 5092 | 1546 | 1576 |
| 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 |
| ENST00000338382 | 5782 | 1801 | 20740236 | 20740340 | 322 | 425 | 96 | 130 |
| ENST00000380249 | 6113 | 1801 | 20740236 | 20740340 | 653 | 756 | 96 | 130 |
| ENST00000338382 | 5782 | 1801 | 20819796 | 20819900 | 1490 | 1593 | 485 | 520 |
| ENST00000380249 | 6113 | 1801 | 20819796 | 20819900 | 1821 | 1924 | 485 | 520 |
| ENST00000338382 | 5782 | 1801 | 20907150 | 20907242 | 2660 | 2751 | 875 | 906 |
| ENST00000380249 | 6113 | 1801 | 20907150 | 20907242 | 2991 | 3082 | 875 | 906 |
| 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 |
| ENST00000338382 | 5782 | 1801 | 20740236 | 20740340 | 322 | 425 | 96 | 130 |
| ENST00000380249 | 6113 | 1801 | 20740236 | 20740340 | 653 | 756 | 96 | 130 |
| ENST00000338382 | 5782 | 1801 | 20819796 | 20819900 | 1490 | 1593 | 485 | 520 |
| ENST00000380249 | 6113 | 1801 | 20819796 | 20819900 | 1821 | 1924 | 485 | 520 |
| ENST00000338382 | 5782 | 1801 | 20907150 | 20907242 | 2660 | 2751 | 875 | 906 |
| ENST00000380249 | 6113 | 1801 | 20907150 | 20907242 | 2991 | 3082 | 875 | 906 |
| ENST00000338382 | 5782 | 1801 | 20982357 | 20982446 | 4673 | 4761 | 1546 | 1576 |
| ENST00000380249 | 6113 | 1801 | 20982357 | 20982446 | 5004 | 5092 | 1546 | 1576 |
| 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 |
| Q5VW36 | 96 | 130 | 1 | 1801 | Chain | ID=PRO_0000314457;Note=Focadhesin |
| Q5VW36 | 96 | 130 | 1 | 1801 | Chain | ID=PRO_0000314457;Note=Focadhesin |
| Q5VW36 | 485 | 520 | 1 | 1801 | Chain | ID=PRO_0000314457;Note=Focadhesin |
| Q5VW36 | 485 | 520 | 1 | 1801 | Chain | ID=PRO_0000314457;Note=Focadhesin |
| Q5VW36 | 875 | 906 | 1 | 1801 | Chain | ID=PRO_0000314457;Note=Focadhesin |
| Q5VW36 | 875 | 906 | 1 | 1801 | Chain | ID=PRO_0000314457;Note=Focadhesin |
| Q5VW36 | 1546 | 1576 | 1 | 1801 | Chain | ID=PRO_0000314457;Note=Focadhesin |
| Q5VW36 | 1546 | 1576 | 1 | 1801 | Chain | ID=PRO_0000314457;Note=Focadhesin |
| 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 |
| Q5VW36 | 96 | 130 | 1 | 1801 | Chain | ID=PRO_0000314457;Note=Focadhesin |
| Q5VW36 | 96 | 130 | 1 | 1801 | Chain | ID=PRO_0000314457;Note=Focadhesin |
| Q5VW36 | 485 | 520 | 1 | 1801 | Chain | ID=PRO_0000314457;Note=Focadhesin |
| Q5VW36 | 485 | 520 | 1 | 1801 | Chain | ID=PRO_0000314457;Note=Focadhesin |
| Q5VW36 | 875 | 906 | 1 | 1801 | Chain | ID=PRO_0000314457;Note=Focadhesin |
| Q5VW36 | 875 | 906 | 1 | 1801 | Chain | ID=PRO_0000314457;Note=Focadhesin |
| 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 |
| Q5VW36 | 96 | 130 | 1 | 1801 | Chain | ID=PRO_0000314457;Note=Focadhesin |
| Q5VW36 | 96 | 130 | 1 | 1801 | Chain | ID=PRO_0000314457;Note=Focadhesin |
| Q5VW36 | 485 | 520 | 1 | 1801 | Chain | ID=PRO_0000314457;Note=Focadhesin |
| Q5VW36 | 485 | 520 | 1 | 1801 | Chain | ID=PRO_0000314457;Note=Focadhesin |
| Q5VW36 | 875 | 906 | 1 | 1801 | Chain | ID=PRO_0000314457;Note=Focadhesin |
| Q5VW36 | 875 | 906 | 1 | 1801 | Chain | ID=PRO_0000314457;Note=Focadhesin |
| Q5VW36 | 1546 | 1576 | 1 | 1801 | Chain | ID=PRO_0000314457;Note=Focadhesin |
| Q5VW36 | 1546 | 1576 | 1 | 1801 | Chain | ID=PRO_0000314457;Note=Focadhesin |
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3'-UTR located exon skipping events that lost miRNA binding sites in FOCAD |
| 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 FOCAD |
| - 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 FOCAD |
| 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 |
| CDR | MSBB | IFG | exon_skip_249584 | 4.312394e-01 | 2.195285e-02 | chr9 | + | 20789351 | 20789608 | 20819796 | 20819900 | 20820324 | 20820425 |
| CDR | MSBB | IFG | exon_skip_289471 | 4.075330e-01 | 3.135150e-02 | chr9 | + | 20740236 | 20740340 | 20755847 | 20756099 | 20758090 | 20758191 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FOCAD |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| CB | exon_skip_251249 | rs4977848 | chr9:20953751 | 4.810186e-12 | 6.389167e-09 |
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Correlation with RNA binding proteins (RBPs) for FOCAD |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| STG | HNRNPDL | exon_skip_249584 | -4.280865e-01 | 8.302660e-05 |
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RelatedDrugs for FOCAD |
| 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 FOCAD |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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