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![]() | Open reading frame (ORF) annotation in the exon skipping event |
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![]() | Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
![]() | Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for FBXO42 |
Gene summary |
| Gene information | Gene symbol | FBXO42 | Gene ID | 54455 |
| Gene name | F-box protein 42 | |
| Synonyms | Fbx42|JFK | |
| Cytomap | 1p36.13 | |
| Type of gene | protein-coding | |
| Description | F-box only protein 42just one F-box and Kelch domain-containing protein | |
| Modification date | 20180519 | |
| UniProtAcc | Q6P3S6 | |
| Context | PubMed: FBXO42 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
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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Exon skipping events across known transcript of Ensembl for FBXO42 from UCSC genome browser |
Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for FBXO42 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for FBXO42 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_22069 | 1 | 16577576:16578280:16578782:16578899:16579590:16579647 | 16578782:16578899 | ENSG00000037637.6 | ENST00000375592.3,ENST00000444116.1,ENST00000456164.1 |
| exon_skip_22074 | 1 | 16579590:16579647:16580129:16580226:16582205:16582316 | 16580129:16580226 | ENSG00000037637.6 | ENST00000375592.3 |
| exon_skip_22078 | 1 | 16621277:16621412:16632297:16632414:16641663:16641862 | 16632297:16632414 | ENSG00000037637.6 | ENST00000375592.3,ENST00000478089.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FBXO42 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_22069 | 1 | 16577576:16578280:16578782:16578899:16579590:16579647 | 16578782:16578899 | ENSG00000037637.6 | ENST00000375592.3,ENST00000456164.1,ENST00000444116.1 |
| exon_skip_22074 | 1 | 16579590:16579647:16580129:16580226:16582205:16582316 | 16580129:16580226 | ENSG00000037637.6 | ENST00000375592.3 |
| exon_skip_22078 | 1 | 16621277:16621412:16632297:16632414:16641663:16641862 | 16632297:16632414 | ENSG00000037637.6 | ENST00000375592.3,ENST00000478089.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for FBXO42 |
Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000375592 | 16580129 | 16580226 | Frame-shift |
| ENST00000375592 | 16578782 | 16578899 | In-frame |
| ENST00000375592 | 16632297 | 16632414 | In-frame |
Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000375592 | 16580129 | 16580226 | Frame-shift |
| ENST00000375592 | 16578782 | 16578899 | In-frame |
| ENST00000375592 | 16632297 | 16632414 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FBXO42 |
Exon skipping at the protein sequence level and followed lost functional features.* Click on the image to enlarge it in a new window. |
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Loci of skipped exons in TCGA 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 |
| ENST00000375592 | 6219 | 717 | 16632297 | 16632414 | 468 | 584 | 83 | 122 |
| ENST00000375592 | 6219 | 717 | 16578782 | 16578899 | 1139 | 1255 | 307 | 346 |
Loci of skipped exons in GTEx 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 |
| ENST00000375592 | 6219 | 717 | 16632297 | 16632414 | 468 | 584 | 83 | 122 |
| ENST00000375592 | 6219 | 717 | 16578782 | 16578899 | 1139 | 1255 | 307 | 346 |
Lost protein functional features of individual exon skipping events in TCGA. |
| 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 |
| Q6P3S6 | 83 | 122 | 1 | 717 | Chain | ID=PRO_0000119942;Note=F-box only protein 42 |
| Q6P3S6 | 83 | 122 | 44 | 93 | Domain | Note=F-box;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00080 |
| Q6P3S6 | 307 | 346 | 1 | 717 | Chain | ID=PRO_0000119942;Note=F-box only protein 42 |
| Q6P3S6 | 307 | 346 | 295 | 342 | Repeat | Note=Kelch 4 |
Lost protein functional features of individual exon skipping events in GTEx. |
| 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 |
| Q6P3S6 | 83 | 122 | 1 | 717 | Chain | ID=PRO_0000119942;Note=F-box only protein 42 |
| Q6P3S6 | 83 | 122 | 44 | 93 | Domain | Note=F-box;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00080 |
| Q6P3S6 | 307 | 346 | 1 | 717 | Chain | ID=PRO_0000119942;Note=F-box only protein 42 |
| Q6P3S6 | 307 | 346 | 295 | 342 | Repeat | Note=Kelch 4 |
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SNVs in the skipped exons for FBXO42 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- Differential PSIs between mutated versus non-mutated samples. |
- Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| ACC | TCGA-OR-A5KP-01 | exon_skip_22074 | 16580130 | 16580226 | 16580181 | 16580181 | Frame_Shift_Del | G | - | p.K272fs |
| ACC | TCGA-OR-A5KP-01 | exon_skip_22074 | 16580130 | 16580226 | 16580181 | 16580181 | Frame_Shift_Del | G | - | p.S271fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_22078 | 16632298 | 16632414 | 16632321 | 16632321 | Frame_Shift_Del | G | - | p.P115fs |
| COAD | TCGA-DM-A28H-01 | exon_skip_22074 | 16580130 | 16580226 | 16580190 | 16580191 | Frame_Shift_Ins | - | CACTG | p.W268fs |
| BLCA | TCGA-G2-AA3B-01 | exon_skip_22078 | 16632298 | 16632414 | 16632313 | 16632313 | Nonsense_Mutation | G | A | p.Q118* |
- Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
- 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 |
| HEC1B_ENDOMETRIUM | 16578783 | 16578899 | 16578838 | 16578838 | Missense_Mutation | T | G | p.K328T |
| BICR56_UPPER_AERODIGESTIVE_TRACT | 16578783 | 16578899 | 16578890 | 16578890 | Missense_Mutation | C | T | p.D311N |
| C80_LARGE_INTESTINE | 16632298 | 16632414 | 16632319 | 16632319 | Missense_Mutation | T | C | p.I116V |
| RERFLCAD2_LUNG | 16632298 | 16632414 | 16632351 | 16632351 | Missense_Mutation | T | A | p.E105V |
| C10_LARGE_INTESTINE | 16632298 | 16632414 | 16632412 | 16632412 | Missense_Mutation | C | T | p.V85I |
| HS600T_FIBROBLAST | 16578783 | 16578899 | 16578824 | 16578824 | Nonsense_Mutation | C | A | p.E333* |
| NCIH1355_LUNG | 16578783 | 16578899 | 16578784 | 16578784 | Splice_Site | C | T | p.R346Q |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FBXO42 |
sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FBXO42 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FBXO42 |
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RelatedDrugs for FBXO42 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for FBXO42 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |