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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 FRYL |
 Gene summary |
| Gene information | Gene symbol | FRYL | Gene ID | 285527 |
| Gene name | FRY like transcription coactivator | |
| Synonyms | AF4p12|KIAA0826|MOR2 | |
| Cytomap | 4p11 | |
| Type of gene | protein-coding | |
| Description | protein furry homolog-likeALL1-fused gene from chromosome 4p12 proteinFRY-likefurry homolog-likefurry-likemor2 cell polarity protein homolog | |
| 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 FRYL |
| 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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ENSG00000075539
| 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 FRYL |
| 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_113103 | chr4 | 48623126:48623179:48634291:48634490:48684673:48684795 | 48634291:48634490 |
| exon_skip_12059 | chr4 | 48561468:48561636:48562889:48562988:48563948:48564102 | 48562889:48562988 |
| exon_skip_14180 | chr4 | 48501623:48501733:48502828:48502845:48505547:48505615 | 48502828:48502845 |
| exon_skip_16421 | chr4 | 48634418:48634490:48684673:48684795:48710519:48710698 | 48684673:48684795 |
| exon_skip_164312 | chr4 | 48522901:48523104:48523488:48523496:48527477:48527653 | 48523488:48523496 |
| exon_skip_18422 | chr4 | 48515209:48515275:48521048:48521215:48522901:48523104 | 48521048:48521215 |
| exon_skip_186360 | chr4 | 48500030:48500220:48501623:48501733:48502828:48502845 | 48501623:48501733 |
| exon_skip_198963 | chr4 | 48634418:48634490:48684673:48684795:48780078:48780129 | 48684673:48684795 |
| exon_skip_198998 | chr4 | 48543807:48543997:48544783:48544904:48546067:48546268 | 48544783:48544904 |
| exon_skip_205007 | chr4 | 48565531:48565691:48567248:48567420:48570827:48570918 | 48567248:48567420 |
| exon_skip_213766 | chr4 | 48557453:48557712:48561468:48561636:48562889:48562988 | 48561468:48561636 |
| exon_skip_221974 | chr4 | 48586621:48586728:48589745:48589877:48590659:48590830 | 48589745:48589877 |
| exon_skip_22737 | chr4 | 48684781:48684795:48710519:48710698:48780078:48780129 | 48710519:48710698 |
| exon_skip_230718 | chr4 | 48634418:48634490:48710519:48710698:48780078:48780129 | 48710519:48710698 |
| exon_skip_236690 | chr4 | 48608987:48609067:48609744:48609823:48619274:48619370 | 48609744:48609823 |
| exon_skip_250163 | chr4 | 48605741:48605833:48606438:48606606:48608987:48609067 | 48606438:48606606 |
| exon_skip_257931 | chr4 | 48501623:48501733:48502828:48502845:48505547:48505608 | 48502828:48502845 |
| exon_skip_271041 | chr4 | 48501623:48501733:48505547:48505615:48510059:48510157 | 48505547:48505615 |
| exon_skip_280295 | chr4 | 48710519:48710698:48727431:48727491:48780078:48780129 | 48727431:48727491 |
| exon_skip_290265 | chr4 | 48605741:48605833:48606438:48606606:48608987:48609059 | 48606438:48606606 |
| exon_skip_290283 | chr4 | 48535657:48535827:48539971:48540068:48540353:48540535 | 48539971:48540068 |
| exon_skip_44279 | chr4 | 48684673:48684795:48710519:48710698:48780078:48780129 | 48710519:48710698 |
| exon_skip_49427 | chr4 | 48602020:48602121:48603290:48603388:48605741:48605833 | 48603290:48603388 |
| exon_skip_75699 | chr4 | 48590659:48590830:48593930:48594016:48595590:48595698 | 48593930:48594016 |
| exon_skip_78144 | chr4 | 48548690:48548793:48549473:48549623:48550592:48550704 | 48549473:48549623 |
| exon_skip_9111 | chr4 | 48531301:48531353:48534545:48534685:48535657:48535827 | 48534545:48534685 |
| 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 FRYL |
| 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 |
| ENST00000358350 | 48684673 | 48684795 | 3UTR-3UTR |
| ENST00000358350 | 48710519 | 48710698 | 3UTR-3UTR |
| ENST00000358350 | 48539971 | 48540068 | Frame-shift |
| ENST00000503238 | 48539971 | 48540068 | Frame-shift |
| ENST00000358350 | 48549473 | 48549623 | Frame-shift |
| ENST00000503238 | 48549473 | 48549623 | Frame-shift |
| ENST00000358350 | 48606438 | 48606606 | Frame-shift |
| ENST00000503238 | 48606438 | 48606606 | Frame-shift |
| ENST00000358350 | 48502828 | 48502845 | In-frame |
| ENST00000503238 | 48502828 | 48502845 | In-frame |
| ENST00000358350 | 48534545 | 48534685 | In-frame |
| ENST00000503238 | 48534545 | 48534685 | 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 |
| ENST00000358350 | 48634291 | 48634490 | 3UTR-3CDS |
| ENST00000358350 | 48684673 | 48684795 | 3UTR-3UTR |
| ENST00000358350 | 48710519 | 48710698 | 3UTR-3UTR |
| ENST00000358350 | 48539971 | 48540068 | Frame-shift |
| ENST00000503238 | 48539971 | 48540068 | Frame-shift |
| ENST00000358350 | 48549473 | 48549623 | Frame-shift |
| ENST00000503238 | 48549473 | 48549623 | Frame-shift |
| ENST00000358350 | 48561468 | 48561636 | Frame-shift |
| ENST00000503238 | 48561468 | 48561636 | Frame-shift |
| ENST00000358350 | 48606438 | 48606606 | Frame-shift |
| ENST00000503238 | 48606438 | 48606606 | Frame-shift |
| ENST00000358350 | 48609744 | 48609823 | Frame-shift |
| ENST00000503238 | 48609744 | 48609823 | Frame-shift |
| ENST00000358350 | 48502828 | 48502845 | In-frame |
| ENST00000503238 | 48502828 | 48502845 | In-frame |
| ENST00000358350 | 48593930 | 48594016 | In-frame |
| ENST00000503238 | 48593930 | 48594016 | 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 |
| ENST00000358350 | 48684673 | 48684795 | 3UTR-3UTR |
| ENST00000358350 | 48710519 | 48710698 | 3UTR-3UTR |
| ENST00000358350 | 48539971 | 48540068 | Frame-shift |
| ENST00000503238 | 48539971 | 48540068 | Frame-shift |
| ENST00000358350 | 48544783 | 48544904 | Frame-shift |
| ENST00000503238 | 48544783 | 48544904 | Frame-shift |
| ENST00000358350 | 48549473 | 48549623 | Frame-shift |
| ENST00000503238 | 48549473 | 48549623 | Frame-shift |
| ENST00000358350 | 48561468 | 48561636 | Frame-shift |
| ENST00000503238 | 48561468 | 48561636 | Frame-shift |
| ENST00000358350 | 48562889 | 48562988 | Frame-shift |
| ENST00000503238 | 48562889 | 48562988 | Frame-shift |
| ENST00000358350 | 48567248 | 48567420 | Frame-shift |
| ENST00000503238 | 48567248 | 48567420 | Frame-shift |
| ENST00000358350 | 48589745 | 48589877 | Frame-shift |
| ENST00000503238 | 48589745 | 48589877 | Frame-shift |
| ENST00000358350 | 48606438 | 48606606 | Frame-shift |
| ENST00000503238 | 48606438 | 48606606 | Frame-shift |
| ENST00000358350 | 48609744 | 48609823 | Frame-shift |
| ENST00000503238 | 48609744 | 48609823 | Frame-shift |
| ENST00000358350 | 48501623 | 48501733 | In-frame |
| ENST00000503238 | 48501623 | 48501733 | In-frame |
| ENST00000358350 | 48502828 | 48502845 | In-frame |
| ENST00000503238 | 48502828 | 48502845 | In-frame |
| ENST00000358350 | 48521048 | 48521215 | In-frame |
| ENST00000503238 | 48521048 | 48521215 | In-frame |
| ENST00000358350 | 48534545 | 48534685 | In-frame |
| ENST00000503238 | 48534545 | 48534685 | In-frame |
| ENST00000358350 | 48593930 | 48594016 | In-frame |
| ENST00000503238 | 48593930 | 48594016 | In-frame |
| ENST00000358350 | 48603290 | 48603388 | In-frame |
| ENST00000503238 | 48603290 | 48603388 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FRYL |
p-ENSG00000075539_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 |
| ENST00000358350 | 11723 | 3013 | 48534545 | 48534685 | 7170 | 7309 | 2188 | 2234 |
| ENST00000503238 | 11120 | 3013 | 48534545 | 48534685 | 6565 | 6704 | 2188 | 2234 |
| 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 |
| ENST00000358350 | 11723 | 3013 | 48593930 | 48594016 | 1854 | 1939 | 416 | 444 |
| ENST00000503238 | 11120 | 3013 | 48593930 | 48594016 | 1249 | 1334 | 416 | 444 |
| 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 |
| ENST00000358350 | 11723 | 3013 | 48603290 | 48603388 | 1440 | 1537 | 278 | 310 |
| ENST00000503238 | 11120 | 3013 | 48603290 | 48603388 | 835 | 932 | 278 | 310 |
| ENST00000358350 | 11723 | 3013 | 48593930 | 48594016 | 1854 | 1939 | 416 | 444 |
| ENST00000503238 | 11120 | 3013 | 48593930 | 48594016 | 1249 | 1334 | 416 | 444 |
| ENST00000358350 | 11723 | 3013 | 48534545 | 48534685 | 7170 | 7309 | 2188 | 2234 |
| ENST00000503238 | 11120 | 3013 | 48534545 | 48534685 | 6565 | 6704 | 2188 | 2234 |
| ENST00000358350 | 11723 | 3013 | 48521048 | 48521215 | 8127 | 8293 | 2507 | 2562 |
| ENST00000503238 | 11120 | 3013 | 48521048 | 48521215 | 7522 | 7688 | 2507 | 2562 |
| ENST00000358350 | 11723 | 3013 | 48501623 | 48501733 | 9087 | 9196 | 2827 | 2863 |
| ENST00000503238 | 11120 | 3013 | 48501623 | 48501733 | 8482 | 8591 | 2827 | 2863 |
| 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 |
| O94915 | 2188 | 2234 | 1 | 2604 | Alternative sequence | ID=VSP_023038;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94915 | 2188 | 2234 | 1 | 2604 | Alternative sequence | ID=VSP_023038;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94915 | 2188 | 2234 | 2 | 3013 | Chain | ID=PRO_0000277619;Note=Protein furry homolog-like |
| O94915 | 2188 | 2234 | 2 | 3013 | Chain | ID=PRO_0000277619;Note=Protein furry homolog-like |
| 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 |
| O94915 | 416 | 444 | 1 | 2604 | Alternative sequence | ID=VSP_023038;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94915 | 416 | 444 | 1 | 2604 | Alternative sequence | ID=VSP_023038;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94915 | 416 | 444 | 2 | 3013 | Chain | ID=PRO_0000277619;Note=Protein furry homolog-like |
| O94915 | 416 | 444 | 2 | 3013 | Chain | ID=PRO_0000277619;Note=Protein furry homolog-like |
| 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 |
| O94915 | 278 | 310 | 1 | 2604 | Alternative sequence | ID=VSP_023038;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94915 | 278 | 310 | 1 | 2604 | Alternative sequence | ID=VSP_023038;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94915 | 278 | 310 | 2 | 3013 | Chain | ID=PRO_0000277619;Note=Protein furry homolog-like |
| O94915 | 278 | 310 | 2 | 3013 | Chain | ID=PRO_0000277619;Note=Protein furry homolog-like |
| O94915 | 416 | 444 | 1 | 2604 | Alternative sequence | ID=VSP_023038;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94915 | 416 | 444 | 1 | 2604 | Alternative sequence | ID=VSP_023038;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94915 | 416 | 444 | 2 | 3013 | Chain | ID=PRO_0000277619;Note=Protein furry homolog-like |
| O94915 | 416 | 444 | 2 | 3013 | Chain | ID=PRO_0000277619;Note=Protein furry homolog-like |
| O94915 | 2188 | 2234 | 1 | 2604 | Alternative sequence | ID=VSP_023038;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94915 | 2188 | 2234 | 1 | 2604 | Alternative sequence | ID=VSP_023038;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94915 | 2188 | 2234 | 2 | 3013 | Chain | ID=PRO_0000277619;Note=Protein furry homolog-like |
| O94915 | 2188 | 2234 | 2 | 3013 | Chain | ID=PRO_0000277619;Note=Protein furry homolog-like |
| O94915 | 2507 | 2562 | 1 | 2604 | Alternative sequence | ID=VSP_023038;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94915 | 2507 | 2562 | 1 | 2604 | Alternative sequence | ID=VSP_023038;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94915 | 2507 | 2562 | 2 | 3013 | Chain | ID=PRO_0000277619;Note=Protein furry homolog-like |
| O94915 | 2507 | 2562 | 2 | 3013 | Chain | ID=PRO_0000277619;Note=Protein furry homolog-like |
| O94915 | 2827 | 2863 | 2822 | 2827 | Alternative sequence | ID=VSP_023039;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94915 | 2827 | 2863 | 2822 | 2827 | Alternative sequence | ID=VSP_023039;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94915 | 2827 | 2863 | 2 | 3013 | Chain | ID=PRO_0000277619;Note=Protein furry homolog-like |
| O94915 | 2827 | 2863 | 2 | 3013 | Chain | ID=PRO_0000277619;Note=Protein furry homolog-like |
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3'-UTR located exon skipping events that lost miRNA binding sites in FRYL |
| 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 |
| Mayo | ENST00000358350 | 48684673 | 48684795 | hsa-miR-190b-3p | chr4:48684751-48684758 | 8mer-1a | chr4:48684738-48684759 | 160.00 | -14.75 |
| Mayo | ENST00000358350 | 48684673 | 48684795 | hsa-miR-3159 | chr4:48684715-48684722 | 8mer-1a | chr4:48684701-48684722 | 146.00 | -13.42 |
| Mayo | ENST00000358350 | 48710519 | 48710698 | hsa-miR-8054 | chr4:48710610-48710617 | 8mer-1a | chr4:48710604-48710625 | 163.00 | -24.82 |
| Mayo | ENST00000358350 | 48710519 | 48710698 | hsa-miR-548k | chr4:48710610-48710617 | 8mer-1a | chr4:48710604-48710625 | 163.00 | -24.82 |
| Mayo | ENST00000358350 | 48710519 | 48710698 | hsa-miR-3613-3p | chr4:48710592-48710599 | 8mer-1a | chr4:48710582-48710604 | 151.00 | -13.64 |
| Mayo | ENST00000358350 | 48684673 | 48684795 | hsa-miR-432-3p | chr4:48684765-48684772 | 8mer-1a | chr4:48684750-48684772 | 146.00 | -12.82 |
| Mayo | ENST00000358350 | 48684673 | 48684795 | hsa-miR-1193 | chr4:48684764-48684771 | 8mer-1a | chr4:48684749-48684771 | 150.00 | -18.04 |
| Mayo | ENST00000358350 | 48710519 | 48710698 | hsa-miR-377-3p | chr4:48710669-48710676 | 8mer-1a | chr4:48710656-48710676 | 148.00 | -13.70 |
| Mayo | ENST00000358350 | 48710519 | 48710698 | hsa-miR-627-3p | chr4:48710553-48710560 | 8mer-1a | chr4:48710542-48710560 | 155.00 | -16.49 |
| Mayo | ENST00000358350 | 48710519 | 48710698 | hsa-miR-548av-5p | chr4:48710610-48710617 | 8mer-1a | chr4:48710604-48710625 | 163.00 | -24.82 |
| Mayo | ENST00000358350 | 48710519 | 48710698 | hsa-miR-1283 | chr4:48710548-48710555 | 8mer-1a | chr4:48710542-48710560 | 155.00 | -16.49 |
| Mayo | ENST00000358350 | 48710519 | 48710698 | hsa-miR-4777-5p | chr4:48710582-48710589 | 8mer-1a | chr4:48710582-48710604 | 151.00 | -13.64 |
| Mayo | ENST00000358350 | 48684673 | 48684795 | hsa-miR-4786-3p | chr4:48684785-48684792 | 8mer-1a | chr4:48684770-48684792 | 149.00 | -17.47 |
| Mayo | ENST00000358350 | 48710519 | 48710698 | hsa-miR-6889-3p | chr4:48710539-48710546 | 8mer-1a | chr4:48710527-48710549 | 155.00 | -18.89 |
| Mayo | ENST00000358350 | 48710519 | 48710698 | hsa-miR-6529-3p | chr4:48710539-48710546 | 8mer-1a | chr4:48710527-48710549 | 155.00 | -18.89 |
| Mayo | ENST00000358350 | 48684673 | 48684795 | hsa-miR-3691-3p | chr4:48684702-48684709 | 8mer-1a | chr4:48684692-48684713 | 149.00 | -18.16 |
| MSBB | ENST00000358350 | 48684673 | 48684795 | hsa-miR-190b-3p | chr4:48684751-48684758 | 8mer-1a | chr4:48684738-48684759 | 160.00 | -14.75 |
| MSBB | ENST00000358350 | 48684673 | 48684795 | hsa-miR-3159 | chr4:48684715-48684722 | 8mer-1a | chr4:48684701-48684722 | 146.00 | -13.42 |
| MSBB | ENST00000358350 | 48710519 | 48710698 | hsa-miR-8054 | chr4:48710610-48710617 | 8mer-1a | chr4:48710604-48710625 | 163.00 | -24.82 |
| MSBB | ENST00000358350 | 48710519 | 48710698 | hsa-miR-548k | chr4:48710610-48710617 | 8mer-1a | chr4:48710604-48710625 | 163.00 | -24.82 |
| MSBB | ENST00000358350 | 48710519 | 48710698 | hsa-miR-3613-3p | chr4:48710592-48710599 | 8mer-1a | chr4:48710582-48710604 | 151.00 | -13.64 |
| MSBB | ENST00000358350 | 48684673 | 48684795 | hsa-miR-432-3p | chr4:48684765-48684772 | 8mer-1a | chr4:48684750-48684772 | 146.00 | -12.82 |
| MSBB | ENST00000358350 | 48684673 | 48684795 | hsa-miR-1193 | chr4:48684764-48684771 | 8mer-1a | chr4:48684749-48684771 | 150.00 | -18.04 |
| MSBB | ENST00000358350 | 48710519 | 48710698 | hsa-miR-377-3p | chr4:48710669-48710676 | 8mer-1a | chr4:48710656-48710676 | 148.00 | -13.70 |
| MSBB | ENST00000358350 | 48710519 | 48710698 | hsa-miR-627-3p | chr4:48710553-48710560 | 8mer-1a | chr4:48710542-48710560 | 155.00 | -16.49 |
| MSBB | ENST00000358350 | 48710519 | 48710698 | hsa-miR-548av-5p | chr4:48710610-48710617 | 8mer-1a | chr4:48710604-48710625 | 163.00 | -24.82 |
| MSBB | ENST00000358350 | 48710519 | 48710698 | hsa-miR-1283 | chr4:48710548-48710555 | 8mer-1a | chr4:48710542-48710560 | 155.00 | -16.49 |
| MSBB | ENST00000358350 | 48710519 | 48710698 | hsa-miR-4777-5p | chr4:48710582-48710589 | 8mer-1a | chr4:48710582-48710604 | 151.00 | -13.64 |
| MSBB | ENST00000358350 | 48684673 | 48684795 | hsa-miR-4786-3p | chr4:48684785-48684792 | 8mer-1a | chr4:48684770-48684792 | 149.00 | -17.47 |
| MSBB | ENST00000358350 | 48710519 | 48710698 | hsa-miR-6889-3p | chr4:48710539-48710546 | 8mer-1a | chr4:48710527-48710549 | 155.00 | -18.89 |
| MSBB | ENST00000358350 | 48710519 | 48710698 | hsa-miR-6529-3p | chr4:48710539-48710546 | 8mer-1a | chr4:48710527-48710549 | 155.00 | -18.89 |
| MSBB | ENST00000358350 | 48684673 | 48684795 | hsa-miR-3691-3p | chr4:48684702-48684709 | 8mer-1a | chr4:48684692-48684713 | 149.00 | -18.16 |
| ROSMAP | ENST00000358350 | 48684673 | 48684795 | hsa-miR-190b-3p | chr4:48684751-48684758 | 8mer-1a | chr4:48684738-48684759 | 160.00 | -14.75 |
| ROSMAP | ENST00000358350 | 48684673 | 48684795 | hsa-miR-3159 | chr4:48684715-48684722 | 8mer-1a | chr4:48684701-48684722 | 146.00 | -13.42 |
| ROSMAP | ENST00000358350 | 48710519 | 48710698 | hsa-miR-8054 | chr4:48710610-48710617 | 8mer-1a | chr4:48710604-48710625 | 163.00 | -24.82 |
| ROSMAP | ENST00000358350 | 48710519 | 48710698 | hsa-miR-548k | chr4:48710610-48710617 | 8mer-1a | chr4:48710604-48710625 | 163.00 | -24.82 |
| ROSMAP | ENST00000358350 | 48710519 | 48710698 | hsa-miR-3613-3p | chr4:48710592-48710599 | 8mer-1a | chr4:48710582-48710604 | 151.00 | -13.64 |
| ROSMAP | ENST00000358350 | 48684673 | 48684795 | hsa-miR-432-3p | chr4:48684765-48684772 | 8mer-1a | chr4:48684750-48684772 | 146.00 | -12.82 |
| ROSMAP | ENST00000358350 | 48684673 | 48684795 | hsa-miR-1193 | chr4:48684764-48684771 | 8mer-1a | chr4:48684749-48684771 | 150.00 | -18.04 |
| ROSMAP | ENST00000358350 | 48710519 | 48710698 | hsa-miR-377-3p | chr4:48710669-48710676 | 8mer-1a | chr4:48710656-48710676 | 148.00 | -13.70 |
| ROSMAP | ENST00000358350 | 48710519 | 48710698 | hsa-miR-627-3p | chr4:48710553-48710560 | 8mer-1a | chr4:48710542-48710560 | 155.00 | -16.49 |
| ROSMAP | ENST00000358350 | 48710519 | 48710698 | hsa-miR-548av-5p | chr4:48710610-48710617 | 8mer-1a | chr4:48710604-48710625 | 163.00 | -24.82 |
| ROSMAP | ENST00000358350 | 48710519 | 48710698 | hsa-miR-1283 | chr4:48710548-48710555 | 8mer-1a | chr4:48710542-48710560 | 155.00 | -16.49 |
| ROSMAP | ENST00000358350 | 48710519 | 48710698 | hsa-miR-4777-5p | chr4:48710582-48710589 | 8mer-1a | chr4:48710582-48710604 | 151.00 | -13.64 |
| ROSMAP | ENST00000358350 | 48684673 | 48684795 | hsa-miR-4786-3p | chr4:48684785-48684792 | 8mer-1a | chr4:48684770-48684792 | 149.00 | -17.47 |
| ROSMAP | ENST00000358350 | 48710519 | 48710698 | hsa-miR-6889-3p | chr4:48710539-48710546 | 8mer-1a | chr4:48710527-48710549 | 155.00 | -18.89 |
| ROSMAP | ENST00000358350 | 48710519 | 48710698 | hsa-miR-6529-3p | chr4:48710539-48710546 | 8mer-1a | chr4:48710527-48710549 | 155.00 | -18.89 |
| ROSMAP | ENST00000358350 | 48684673 | 48684795 | hsa-miR-3691-3p | chr4:48684702-48684709 | 8mer-1a | chr4:48684692-48684713 | 149.00 | -18.16 |
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SNVs in the skipped exons for FRYL |
| - 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 FRYL |
| 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 |
| ADstage | MSBB | IFG | exon_skip_50983 | -4.391294e-01 | 1.939283e-02 | chr4 | - | 48570827 | 48570918 | 48571690 | 48571895 | 48573186 | 48573243 |
| CDR | MSBB | IFG | exon_skip_28221 | 3.955619e-01 | 3.720310e-02 | chr4 | - | 48634418 | 48634490 | 48635475 | 48635827 | 48684673 | 48684795 |
| CDR | MSBB | IFG | exon_skip_50983 | -3.827894e-01 | 4.437866e-02 | chr4 | - | 48570827 | 48570918 | 48571690 | 48571895 | 48573186 | 48573243 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FRYL |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| HCC | exon_skip_44279 | rs3107022 | chr4:48615370 | 2.773717e-06 | 4.082002e-04 |
| HCC | exon_skip_44279 | rs796555 | chr4:48634578 | 3.866738e-06 | 5.448291e-04 |
| HCC | exon_skip_44279 | rs13149083 | chr4:48807928 | 6.938693e-06 | 9.162205e-04 |
| HCC | exon_skip_44279 | rs7657332 | chr4:48776135 | 8.579381e-06 | 1.102246e-03 |
| HCC | exon_skip_44279 | rs17576077 | chr4:48756974 | 3.128046e-04 | 2.334195e-02 |
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Correlation with RNA binding proteins (RBPs) for FRYL |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | NUP42 | exon_skip_14180 | 4.077007e-01 | 2.038050e-07 |
| CB | SAMD4A | exon_skip_78144 | -4.578033e-01 | 1.651872e-07 |
| CB | TIA1 | exon_skip_78144 | 5.200934e-01 | 1.344533e-09 |
| CB | PCBP1 | exon_skip_78144 | -4.215894e-01 | 1.797322e-06 |
| CB | TRA2A | exon_skip_78144 | -5.771507e-01 | 6.397958e-12 |
| CB | SNRPA | exon_skip_78144 | -4.543523e-01 | 2.098989e-07 |
| CB | NUP42 | exon_skip_78144 | 5.476661e-01 | 1.150112e-10 |
| IFG | SRSF2 | exon_skip_164312 | -4.069883e-01 | 3.160051e-02 |
| IFG | ZCRB1 | exon_skip_290283 | -4.276914e-01 | 2.319085e-02 |
| IFG | RBMS3 | exon_skip_50983 | -4.242731e-01 | 2.443700e-02 |
| IFG | MSI1 | exon_skip_50983 | -4.429174e-01 | 1.825399e-02 |
| IFG | RBM47 | exon_skip_50983 | -4.823143e-01 | 9.342446e-03 |
| IFG | ZCRB1 | exon_skip_250163 | 4.805531e-01 | 9.642293e-03 |
| IFG | MSI1 | exon_skip_44279 | 4.051190e-01 | 3.246736e-02 |
| IFG | PCBP2 | exon_skip_44279 | 4.698330e-01 | 1.164667e-02 |
| IFG | RC3H1 | exon_skip_44279 | 4.175988e-01 | 2.702734e-02 |
| IFG | NOVA1 | exon_skip_44279 | 4.479010e-01 | 1.684010e-02 |
| PCC | HNRNPF | exon_skip_164312 | -4.000794e-01 | 1.784919e-09 |
| STG | SRSF2 | exon_skip_14180 | 4.137587e-01 | 6.790044e-05 |
| STG | NUP42 | exon_skip_14180 | 5.080918e-01 | 5.069019e-07 |
| STG | HNRNPL | exon_skip_14180 | 4.437656e-01 | 1.668926e-05 |
| STG | NOVA1 | exon_skip_14180 | 4.925382e-01 | 1.260600e-06 |
| TC | SRSF2 | exon_skip_257931 | 4.191172e-01 | 3.468149e-08 |
| TC | NOVA1 | exon_skip_257931 | 4.847232e-01 | 8.302280e-11 |
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RelatedDrugs for FRYL |
| 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 FRYL |
| 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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