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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for FBXL16 |
Gene summary |
Gene information | Gene symbol | FBXL16 | Gene ID | 146330 |
Gene name | F-box and leucine rich repeat protein 16 | |
Synonyms | C16orf22|Fbl16|c380A1.1 | |
Cytomap | 16p13.3 | |
Type of gene | protein-coding | |
Description | F-box/LRR-repeat protein 16c380A1.1 (novel protein) | |
Modification date | 20200313 | |
UniProtAcc | Q8N461, Q8N4J3, | |
Context | - 30898171(Parallel Profiling of DNA Methylation and Hydroxymethylation Highlights Neuropathology-Associated Epigenetic Variation in Alzheimer's Disease) |
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 FBXL16 |
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. |
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 |
STG | UP | ENST00000562563.1 | FBXL16-203:protein_coding:FBXL16 | 6.991326e+01 | 3.397870e+00 | 1.255240e-05 | 3.166487e-03 |
PG | UP | ENST00000562648.2 | FBXL16-205:retained_intron:FBXL16 | 1.680383e+01 | 1.145400e+00 | 3.177927e-04 | 6.394336e-03 |
CB | DOWN | ENST00000562648.2 | FBXL16-205:retained_intron:FBXL16 | 8.389195e+02 | -1.518843e+00 | 6.707694e-10 | 3.140321e-08 |
TC | DOWN | ENST00000562648.2 | FBXL16-205:retained_intron:FBXL16 | 1.907560e+03 | -9.527470e-01 | 2.644043e-05 | 5.578282e-04 |
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 FBXL16 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_142440 | chr16 | 694658:694697:694992:695076:695415:695462 | 694992:695076 |
exon_skip_152959 | chr16 | 694658:694697:694992:695076:695415:695472 | 694992:695076 |
exon_skip_166305 | chr16 | 694658:694697:694992:695076:695415:695923 | 694992:695076 |
exon_skip_183449 | chr16 | 694658:694697:694992:695076:695415:695452 | 694992:695076 |
exon_skip_235396 | chr16 | 694658:694697:694992:695076:695415:695908 | 694992:695076 |
exon_skip_240061 | chr16 | 694658:694697:694992:695076:695415:695672 | 694992:695076 |
exon_skip_280356 | chr16 | 695415:695923:696773:697419:705512:705572 | 696773:697419 |
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 FBXL16 |
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 |
ENST00000324361 | 696773 | 697419 | 3UTR-3CDS |
ENST00000397621 | 696773 | 697419 | 3UTR-3CDS |
ENST00000324361 | 694992 | 695076 | Frame-shift |
ENST00000397621 | 694992 | 695076 | Frame-shift |
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 |
ENST00000324361 | 694992 | 695076 | Frame-shift |
ENST00000397621 | 694992 | 695076 | Frame-shift |
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 |
ENST00000324361 | 696773 | 697419 | 3UTR-3CDS |
ENST00000397621 | 696773 | 697419 | 3UTR-3CDS |
ENST00000324361 | 694992 | 695076 | Frame-shift |
ENST00000397621 | 694992 | 695076 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for FBXL16 |
p-ENSG00000127585_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 |
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 |
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 |
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 |
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 |
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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in FBXL16 |
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 FBXL16 |
- 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 FBXL16 |
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 FBXL16 |
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 FBXL16 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for FBXL16 |
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 FBXL16 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |