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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 FBXL17 |
 Gene summary |
| Gene information | Gene symbol | FBXL17 | Gene ID | 64839 |
| Gene name | F-box and leucine rich repeat protein 17 | |
| Synonyms | FBXO13|Fbl17|Fbx13 | |
| Cytomap | 5q21.3 | |
| Type of gene | protein-coding | |
| Description | F-box/LRR-repeat protein 17F-box only protein 13 | |
| Modification date | 20200313 | |
| UniProtAcc | H7C835, Q9UF56, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| FBXL17 | GO:0000209 | protein polyubiquitination | 27234298 |
| FBXL17 | GO:0006515 | protein quality control for misfolded or incompletely synthesized proteins | 30190310 |
| FBXL17 | GO:0016567 | protein ubiquitination | 24035498|30190310 |
| FBXL17 | GO:0031146 | SCF-dependent proteasomal ubiquitin-dependent protein catabolic process | 24035498|27234298 |
| FBXL17 | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | 30190310 |
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Gene structures and expression levels for FBXL17 |
| 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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ENSG00000145743
| 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 FBXL17 |
| 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_114459 | chr5 | 107859053:107861860:107881037:107881179:108020925:108021001 | 107881037:107881179 |
| exon_skip_117314 | chr5 | 108186117:108186247:108224121:108224228:108348399:108348530 | 108224121:108224228 |
| exon_skip_129404 | chr5 | 107881037:107881179:108020925:108021001:108186117:108186247 | 108020925:108021001 |
| exon_skip_154014 | chr5 | 108364920:108364995:108367831:108367953:108380699:108380923 | 108367831:108367953 |
| exon_skip_21138 | chr5 | 108224121:108224228:108348399:108348530:108364738:108364767 | 108348399:108348530 |
| exon_skip_55050 | chr5 | 108020925:108021001:108186117:108186247:108224121:108224228 | 108186117:108186247 |
| exon_skip_75384 | chr5 | 108364823:108364995:108367831:108367953:108380699:108380923 | 108367831:108367953 |
| exon_skip_8579 | chr5 | 108186171:108186247:108224121:108224228:108348399:108348530 | 108224121:108224228 |
| 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 FBXL17 |
| 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 |
| ENST00000542267 | 107881037 | 107881179 | Frame-shift |
| ENST00000542267 | 108020925 | 108021001 | Frame-shift |
| ENST00000542267 | 108224121 | 108224228 | In-frame |
| ENST00000542267 | 108348399 | 108348530 | In-frame |
| ENST00000542267 | 108367831 | 108367953 | 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 |
| ENST00000542267 | 107881037 | 107881179 | Frame-shift |
| ENST00000542267 | 108348399 | 108348530 | 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 |
| ENST00000542267 | 107881037 | 107881179 | Frame-shift |
| ENST00000542267 | 108020925 | 108021001 | Frame-shift |
| ENST00000542267 | 108186117 | 108186247 | Frame-shift |
| ENST00000542267 | 108224121 | 108224228 | In-frame |
| ENST00000542267 | 108348399 | 108348530 | In-frame |
| ENST00000542267 | 108367831 | 108367953 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FBXL17 |
p-ENSG00000145743_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 |
| ENST00000542267 | 5205 | 701 | 108367831 | 108367953 | 1401 | 1522 | 331 | 371 |
| ENST00000542267 | 5205 | 701 | 108348399 | 108348530 | 1782 | 1912 | 458 | 501 |
| ENST00000542267 | 5205 | 701 | 108224121 | 108224228 | 1914 | 2020 | 502 | 537 |
| 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 |
| ENST00000542267 | 5205 | 701 | 108348399 | 108348530 | 1782 | 1912 | 458 | 501 |
| 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 |
| ENST00000542267 | 5205 | 701 | 108367831 | 108367953 | 1401 | 1522 | 331 | 371 |
| ENST00000542267 | 5205 | 701 | 108348399 | 108348530 | 1782 | 1912 | 458 | 501 |
| ENST00000542267 | 5205 | 701 | 108224121 | 108224228 | 1914 | 2020 | 502 | 537 |
| 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 |
| Q9UF56 | 331 | 371 | 1 | 398 | Alternative sequence | ID=VSP_037034;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005;Dbxref=PMID:14702039,PMID:15489334,PMID:17974005 |
| Q9UF56 | 331 | 371 | 1 | 701 | Chain | ID=PRO_0000119865;Note=F-box/LRR-repeat protein 17 |
| Q9UF56 | 331 | 371 | 318 | 365 | Domain | Note=F-box;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00080 |
| Q9UF56 | 458 | 501 | 1 | 701 | Chain | ID=PRO_0000119865;Note=F-box/LRR-repeat protein 17 |
| Q9UF56 | 502 | 537 | 1 | 701 | Chain | ID=PRO_0000119865;Note=F-box/LRR-repeat protein 17 |
| 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 |
| Q9UF56 | 458 | 501 | 1 | 701 | Chain | ID=PRO_0000119865;Note=F-box/LRR-repeat protein 17 |
| 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 |
| Q9UF56 | 331 | 371 | 1 | 398 | Alternative sequence | ID=VSP_037034;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005;Dbxref=PMID:14702039,PMID:15489334,PMID:17974005 |
| Q9UF56 | 331 | 371 | 1 | 701 | Chain | ID=PRO_0000119865;Note=F-box/LRR-repeat protein 17 |
| Q9UF56 | 331 | 371 | 318 | 365 | Domain | Note=F-box;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00080 |
| Q9UF56 | 458 | 501 | 1 | 701 | Chain | ID=PRO_0000119865;Note=F-box/LRR-repeat protein 17 |
| Q9UF56 | 502 | 537 | 1 | 701 | Chain | ID=PRO_0000119865;Note=F-box/LRR-repeat protein 17 |
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3'-UTR located exon skipping events that lost miRNA binding sites in FBXL17 |
| 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 FBXL17 |
| - 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 FBXL17 |
| 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 FBXL17 |
| 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 FBXL17 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for FBXL17 |
| 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 FBXL17 |
| 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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