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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 FBXL4 |
 Gene summary |
| Gene information | Gene symbol | FBXL4 | Gene ID | 26235 |
| Gene name | F-box and leucine rich repeat protein 4 | |
| Synonyms | FBL4|FBL5|MTDPS13 | |
| Cytomap | 6q16.1-q16.2 | |
| Type of gene | protein-coding | |
| Description | F-box/LRR-repeat protein 4 | |
| Modification date | 20200313 | |
| UniProtAcc | Q9UKA2, | |
| 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 FBXL4 |
| 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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ENSG00000112234
| 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 FBXL4 |
| 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_177246 | chr6 | 98905426:98905670:98917374:98917719:98926477:98926960 | 98917374:98917719 |
| exon_skip_212501 | chr6 | 98880553:98880624:98899268:98899481:98905426:98905670 | 98899268:98899481 |
| exon_skip_215143 | chr6 | 98926477:98927060:98927705:98927822:98934762:98934879 | 98927705:98927822 |
| exon_skip_242870 | chr6 | 98875415:98875727:98880553:98880624:98899268:98899430 | 98880553:98880624 |
| exon_skip_256107 | chr6 | 98875652:98875727:98880553:98880624:98899268:98899481 | 98880553:98880624 |
| exon_skip_26168 | chr6 | 98905426:98905670:98917374:98917719:98926477:98926586 | 98917374:98917719 |
| exon_skip_42637 | chr6 | 98917374:98917719:98926477:98927060:98927705:98927822 | 98926477:98927060 |
| exon_skip_64431 | chr6 | 98875415:98875727:98880553:98880624:98899268:98899372 | 98880553:98880624 |
| exon_skip_74081 | chr6 | 98875415:98875727:98880553:98880624:98899268:98899481 | 98880553:98880624 |
| exon_skip_77179 | chr6 | 98905426:98905670:98917374:98917719:98926477:98927060 | 98917374:98917719 |
| exon_skip_90630 | chr6 | 98873725:98874441:98875415:98875727:98880553:98880624 | 98875415:98875727 |
| 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 FBXL4 |
| 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 |
| ENST00000229971 | 98926477 | 98927060 | 3UTR-3CDS |
| ENST00000369244 | 98926477 | 98927060 | 3UTR-3CDS |
| ENST00000369244 | 98927705 | 98927822 | 3UTR-3UTR |
| ENST00000229971 | 98875415 | 98875727 | Frame-shift |
| ENST00000369244 | 98875415 | 98875727 | Frame-shift |
| ENST00000229971 | 98917374 | 98917719 | Frame-shift |
| ENST00000369244 | 98917374 | 98917719 | Frame-shift |
| ENST00000229971 | 98880553 | 98880624 | In-frame |
| ENST00000369244 | 98880553 | 98880624 | 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 |
| ENST00000229971 | 98926477 | 98927060 | 3UTR-3CDS |
| ENST00000369244 | 98926477 | 98927060 | 3UTR-3CDS |
| ENST00000369244 | 98927705 | 98927822 | 3UTR-3UTR |
| ENST00000229971 | 98917374 | 98917719 | Frame-shift |
| ENST00000369244 | 98917374 | 98917719 | Frame-shift |
| ENST00000229971 | 98880553 | 98880624 | In-frame |
| ENST00000369244 | 98880553 | 98880624 | 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 |
| ENST00000229971 | 98926477 | 98927060 | 3UTR-3CDS |
| ENST00000369244 | 98926477 | 98927060 | 3UTR-3CDS |
| ENST00000369244 | 98927705 | 98927822 | 3UTR-3UTR |
| ENST00000229971 | 98875415 | 98875727 | Frame-shift |
| ENST00000369244 | 98875415 | 98875727 | Frame-shift |
| ENST00000229971 | 98899268 | 98899481 | Frame-shift |
| ENST00000369244 | 98899268 | 98899481 | Frame-shift |
| ENST00000229971 | 98917374 | 98917719 | Frame-shift |
| ENST00000369244 | 98917374 | 98917719 | Frame-shift |
| ENST00000229971 | 98880553 | 98880624 | In-frame |
| ENST00000369244 | 98880553 | 98880624 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FBXL4 |
p-ENSG00000112234_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 |
| ENST00000229971 | 2827 | 621 | 98880553 | 98880624 | 1709 | 1779 | 439 | 462 |
| ENST00000369244 | 8052 | 621 | 98880553 | 98880624 | 1747 | 1817 | 439 | 462 |
| 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 |
| ENST00000229971 | 2827 | 621 | 98880553 | 98880624 | 1709 | 1779 | 439 | 462 |
| ENST00000369244 | 8052 | 621 | 98880553 | 98880624 | 1747 | 1817 | 439 | 462 |
| 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 |
| ENST00000229971 | 2827 | 621 | 98880553 | 98880624 | 1709 | 1779 | 439 | 462 |
| ENST00000369244 | 8052 | 621 | 98880553 | 98880624 | 1747 | 1817 | 439 | 462 |
| 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 |
| Q9UKA2 | 439 | 462 | 1 | 621 | Chain | ID=PRO_0000119844;Note=F-box/LRR-repeat protein 4 |
| Q9UKA2 | 439 | 462 | 1 | 621 | Chain | ID=PRO_0000119844;Note=F-box/LRR-repeat protein 4 |
| Q9UKA2 | 439 | 462 | 427 | 448 | Repeat | Note=LRR 3 |
| Q9UKA2 | 439 | 462 | 427 | 448 | Repeat | Note=LRR 3 |
| Q9UKA2 | 439 | 462 | 452 | 474 | Repeat | Note=LRR 4 |
| Q9UKA2 | 439 | 462 | 452 | 474 | Repeat | Note=LRR 4 |
| 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 |
| Q9UKA2 | 439 | 462 | 1 | 621 | Chain | ID=PRO_0000119844;Note=F-box/LRR-repeat protein 4 |
| Q9UKA2 | 439 | 462 | 1 | 621 | Chain | ID=PRO_0000119844;Note=F-box/LRR-repeat protein 4 |
| Q9UKA2 | 439 | 462 | 427 | 448 | Repeat | Note=LRR 3 |
| Q9UKA2 | 439 | 462 | 427 | 448 | Repeat | Note=LRR 3 |
| Q9UKA2 | 439 | 462 | 452 | 474 | Repeat | Note=LRR 4 |
| Q9UKA2 | 439 | 462 | 452 | 474 | Repeat | Note=LRR 4 |
| 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 |
| Q9UKA2 | 439 | 462 | 1 | 621 | Chain | ID=PRO_0000119844;Note=F-box/LRR-repeat protein 4 |
| Q9UKA2 | 439 | 462 | 1 | 621 | Chain | ID=PRO_0000119844;Note=F-box/LRR-repeat protein 4 |
| Q9UKA2 | 439 | 462 | 427 | 448 | Repeat | Note=LRR 3 |
| Q9UKA2 | 439 | 462 | 427 | 448 | Repeat | Note=LRR 3 |
| Q9UKA2 | 439 | 462 | 452 | 474 | Repeat | Note=LRR 4 |
| Q9UKA2 | 439 | 462 | 452 | 474 | Repeat | Note=LRR 4 |
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3'-UTR located exon skipping events that lost miRNA binding sites in FBXL4 |
| 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 | ENST00000369244 | 98927705 | 98927822 | hsa-miR-619-3p | chr6:98927758-98927765 | 8mer-1a | chr6:98927757-98927775 | 150.00 | -15.59 |
| Mayo | ENST00000369244 | 98927705 | 98927822 | hsa-miR-4310 | chr6:98927797-98927804 | 8mer-1a | chr6:98927795-98927816 | 152.00 | -10.84 |
| Mayo | ENST00000369244 | 98927705 | 98927822 | hsa-miR-3680-3p | chr6:98927739-98927746 | 8mer-1a | chr6:98927723-98927746 | 155.00 | -18.00 |
| Mayo | ENST00000369244 | 98927705 | 98927822 | hsa-miR-7157-5p | chr6:98927797-98927804 | 8mer-1a | chr6:98927795-98927816 | 152.00 | -10.84 |
| MSBB | ENST00000369244 | 98927705 | 98927822 | hsa-miR-619-3p | chr6:98927758-98927765 | 8mer-1a | chr6:98927757-98927775 | 150.00 | -15.59 |
| MSBB | ENST00000369244 | 98927705 | 98927822 | hsa-miR-4310 | chr6:98927797-98927804 | 8mer-1a | chr6:98927795-98927816 | 152.00 | -10.84 |
| MSBB | ENST00000369244 | 98927705 | 98927822 | hsa-miR-3680-3p | chr6:98927739-98927746 | 8mer-1a | chr6:98927723-98927746 | 155.00 | -18.00 |
| MSBB | ENST00000369244 | 98927705 | 98927822 | hsa-miR-7157-5p | chr6:98927797-98927804 | 8mer-1a | chr6:98927795-98927816 | 152.00 | -10.84 |
| ROSMAP | ENST00000369244 | 98927705 | 98927822 | hsa-miR-619-3p | chr6:98927758-98927765 | 8mer-1a | chr6:98927757-98927775 | 150.00 | -15.59 |
| ROSMAP | ENST00000369244 | 98927705 | 98927822 | hsa-miR-4310 | chr6:98927797-98927804 | 8mer-1a | chr6:98927795-98927816 | 152.00 | -10.84 |
| ROSMAP | ENST00000369244 | 98927705 | 98927822 | hsa-miR-3680-3p | chr6:98927739-98927746 | 8mer-1a | chr6:98927723-98927746 | 155.00 | -18.00 |
| ROSMAP | ENST00000369244 | 98927705 | 98927822 | hsa-miR-7157-5p | chr6:98927797-98927804 | 8mer-1a | chr6:98927795-98927816 | 152.00 | -10.84 |
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SNVs in the skipped exons for FBXL4 |
| - 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 FBXL4 |
| 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 FBXL4 |
| 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 FBXL4 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM3 | exon_skip_77179 | -4.568983e-01 | 3.654249e-08 |
| CB | PCBP4 | exon_skip_77179 | -4.119468e-01 | 9.219792e-07 |
| CB | TRA2A | exon_skip_77179 | 4.395131e-01 | 1.346248e-07 |
| CB | NUP42 | exon_skip_77179 | -4.391940e-01 | 1.377932e-07 |
| CB | DAZAP1 | exon_skip_42637 | -4.156006e-01 | 3.166677e-06 |
| CB | ELAVL1 | exon_skip_42637 | -4.394957e-01 | 7.140706e-07 |
| CB | RBM6 | exon_skip_42637 | -4.452371e-01 | 4.907023e-07 |
| CB | CNOT4 | exon_skip_42637 | -4.303465e-01 | 1.280197e-06 |
| CB | PCBP1 | exon_skip_42637 | -4.218181e-01 | 2.172818e-06 |
| CB | KHSRP | exon_skip_42637 | -4.454175e-01 | 4.848987e-07 |
| CB | RBM23 | exon_skip_42637 | -4.609278e-01 | 1.698406e-07 |
| STG | RBM3 | exon_skip_26168 | -4.129379e-01 | 8.582673e-05 |
| TC | RBM3 | exon_skip_26168 | -4.800988e-01 | 1.135455e-09 |
| TC | PCBP4 | exon_skip_26168 | -4.629488e-01 | 5.145713e-09 |
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RelatedDrugs for FBXL4 |
| 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 FBXL4 |
| 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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