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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 FBXW4 |
 Gene summary |
| Gene information | Gene symbol | FBXW4 | Gene ID | 6468 |
| Gene name | F-box and WD repeat domain containing 4 | |
| Synonyms | DAC|FBW4|FBWD4|SHFM3|SHSF3 | |
| Cytomap | 10q24.32 | |
| Type of gene | protein-coding | |
| Description | F-box/WD repeat-containing protein 4F-box and WD-40 domain protein 4F-box and WD-40 domain-containing protein 4F-box/WD repeat protein 4dactylin | |
| Modification date | 20180523 | |
| UniProtAcc | P57775 | |
| Context | PubMed: FBXW4 [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 FBXW4 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 FBXW4 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for FBXW4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_53487 | 10 | 103370422:103371167:103371384:103371526:103372093:103372234 | 103371384:103371526 | ENSG00000107829.9 | ENST00000470093.1,ENST00000331272.7 |
| exon_skip_53489 | 10 | 103371413:103371526:103372093:103372234:103384501:103384567 | 103372093:103372234 | ENSG00000107829.9 | ENST00000331272.7 |
| exon_skip_53496 | 10 | 103372093:103372234:103384501:103384567:103427642:103427737 | 103384501:103384567 | ENSG00000107829.9 | ENST00000331272.7 |
| exon_skip_53508 | 10 | 103384503:103384567:103427642:103427737:103432671:103432804 | 103427642:103427737 | ENSG00000107829.9 | ENST00000331272.7,ENST00000457105.2 |
| exon_skip_53523 | 10 | 103427642:103427737:103432671:103432804:103433244:103433430 | 103432671:103432804 | ENSG00000107829.9 | ENST00000331272.7,ENST00000457105.2 |
| exon_skip_53528 | 10 | 103433321:103433430:103436097:103436193:103454137:103455016 | 103436097:103436193 | ENSG00000107829.9 | ENST00000331272.7 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FBXW4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_53487 | 10 | 103370422:103371167:103371384:103371526:103372093:103372234 | 103371384:103371526 | ENSG00000107829.9 | ENST00000470093.1,ENST00000331272.7 |
| exon_skip_53489 | 10 | 103371413:103371526:103372093:103372234:103384501:103384567 | 103372093:103372234 | ENSG00000107829.9 | ENST00000331272.7 |
| exon_skip_53496 | 10 | 103372093:103372234:103384501:103384567:103427642:103427737 | 103384501:103384567 | ENSG00000107829.9 | ENST00000331272.7 |
| exon_skip_53508 | 10 | 103384503:103384567:103427642:103427737:103432671:103432804 | 103427642:103427737 | ENSG00000107829.9 | ENST00000331272.7,ENST00000457105.2 |
| exon_skip_53523 | 10 | 103427642:103427737:103432671:103432804:103433244:103433430 | 103432671:103432804 | ENSG00000107829.9 | ENST00000331272.7,ENST00000457105.2 |
| exon_skip_53528 | 10 | 103433321:103433430:103436097:103436193:103454137:103455016 | 103436097:103436193 | ENSG00000107829.9 | ENST00000331272.7 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for FBXW4 |
| 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 |
| ENST00000331272 | 103371384 | 103371526 | Frame-shift |
| ENST00000331272 | 103427642 | 103427737 | Frame-shift |
| ENST00000331272 | 103432671 | 103432804 | Frame-shift |
| ENST00000331272 | 103372093 | 103372234 | In-frame |
| ENST00000331272 | 103384501 | 103384567 | In-frame |
| ENST00000331272 | 103436097 | 103436193 | 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 |
| ENST00000331272 | 103371384 | 103371526 | Frame-shift |
| ENST00000331272 | 103427642 | 103427737 | Frame-shift |
| ENST00000331272 | 103432671 | 103432804 | Frame-shift |
| ENST00000331272 | 103372093 | 103372234 | In-frame |
| ENST00000331272 | 103384501 | 103384567 | In-frame |
| ENST00000331272 | 103436097 | 103436193 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FBXW4 |
| 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 |
| ENST00000331272 | 2500 | 412 | 103436097 | 103436193 | 880 | 975 | 87 | 118 |
| ENST00000331272 | 2500 | 412 | 103384501 | 103384567 | 1390 | 1455 | 257 | 278 |
| ENST00000331272 | 2500 | 412 | 103372093 | 103372234 | 1456 | 1596 | 279 | 325 |
| 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 |
| ENST00000331272 | 2500 | 412 | 103436097 | 103436193 | 880 | 975 | 87 | 118 |
| ENST00000331272 | 2500 | 412 | 103384501 | 103384567 | 1390 | 1455 | 257 | 278 |
| ENST00000331272 | 2500 | 412 | 103372093 | 103372234 | 1456 | 1596 | 279 | 325 |
| 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 |
| P57775 | 87 | 118 | 1 | 412 | Chain | ID=PRO_0000050990;Note=F-box/WD repeat-containing protein 4 |
| P57775 | 257 | 278 | 1 | 412 | Chain | ID=PRO_0000050990;Note=F-box/WD repeat-containing protein 4 |
| P57775 | 257 | 278 | 236 | 277 | Repeat | Note=WD 3 |
| P57775 | 279 | 325 | 1 | 412 | Chain | ID=PRO_0000050990;Note=F-box/WD repeat-containing protein 4 |
| P57775 | 279 | 325 | 283 | 321 | Repeat | Note=WD 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 |
| P57775 | 87 | 118 | 1 | 412 | Chain | ID=PRO_0000050990;Note=F-box/WD repeat-containing protein 4 |
| P57775 | 257 | 278 | 1 | 412 | Chain | ID=PRO_0000050990;Note=F-box/WD repeat-containing protein 4 |
| P57775 | 257 | 278 | 236 | 277 | Repeat | Note=WD 3 |
| P57775 | 279 | 325 | 1 | 412 | Chain | ID=PRO_0000050990;Note=F-box/WD repeat-containing protein 4 |
| P57775 | 279 | 325 | 283 | 321 | Repeat | Note=WD 4 |
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SNVs in the skipped exons for FBXW4 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - 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 |
| COAD | TCGA-AA-3663-01 | exon_skip_53489 | 103372094 | 103372234 | 103372201 | 103372201 | Frame_Shift_Del | A | - | p.P291fs |
| BRCA | TCGA-BH-A0WA-01 | exon_skip_53523 | 103432672 | 103432804 | 103432723 | 103432724 | Frame_Shift_Del | CA | - | p.V208fs |
| CESC | TCGA-C5-A7UH-01 | exon_skip_53508 | 103427643 | 103427737 | 103427677 | 103427677 | Nonsense_Mutation | G | A | p.R246* |
| BRCA | TCGA-A8-A08F-01 | exon_skip_53508 | 103427643 | 103427737 | 103427732 | 103427732 | Nonsense_Mutation | C | T | p.W227* |
| SKCM | TCGA-W3-A825-06 | exon_skip_53508 | 103427643 | 103427737 | 103427732 | 103427732 | Nonsense_Mutation | C | T | p.W227* |
| COAD | TCGA-A6-6653-01 | exon_skip_53487 | 103371385 | 103371526 | 103371383 | 103371383 | Splice_Site | A | G | . |
| LIHC | TCGA-ES-A2HT-01 | exon_skip_53489 | 103372094 | 103372234 | 103372236 | 103372236 | Splice_Site | T | C | . |
| - 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 |
| SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 103371385 | 103371526 | 103371404 | 103371404 | Missense_Mutation | C | T | p.R367H |
| ATN1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 103372094 | 103372234 | 103372107 | 103372107 | Missense_Mutation | G | A | p.R322C |
| HCC1833_LUNG | 103427643 | 103427737 | 103427694 | 103427694 | Missense_Mutation | G | A | p.T240I |
| CHL1_SKIN | 103427643 | 103427737 | 103427707 | 103427707 | Missense_Mutation | G | C | p.Q236E |
| COLO678_LARGE_INTESTINE | 103427643 | 103427737 | 103427707 | 103427707 | Missense_Mutation | G | C | p.Q236E |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 103432672 | 103432804 | 103432760 | 103432760 | Missense_Mutation | A | G | p.V196A |
| JHUEM7_ENDOMETRIUM | 103384502 | 103384567 | 103384503 | 103384503 | Splice_Site | T | C | p.S279G |
| SW1271_LUNG | 103432672 | 103432804 | 103432803 | 103432803 | Splice_Site | C | A | p.D182Y |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FBXW4 |
| 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 FBXW4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FBXW4 |
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RelatedDrugs for FBXW4 |
| 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 FBXW4 |
| 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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