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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 FBXO27 |
Gene summary |
| Gene information | Gene symbol | FBXO27 | Gene ID | 126433 |
| Gene name | F-box protein 27 | |
| Synonyms | FBG5|Fbx27 | |
| Cytomap | 19q13.2 | |
| Type of gene | protein-coding | |
| Description | F-box only protein 27F-box protein FBG5F-box/G-domain protein 5 | |
| Modification date | 20180527 | |
| UniProtAcc | Q8NI29 | |
| Context | PubMed: FBXO27 [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 FBXO27 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 FBXO27 |
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 FBXO27 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_318358 | 19 | 39516158:39516194:39517509:39517645:39521668:39521764 | 39517509:39517645 | ENSG00000161243.4 | ENST00000509137.2,ENST00000594770.1,ENST00000292853.4,ENST00000595166.1,ENST00000600828.1 |
| exon_skip_318361 | 19 | 39517509:39517645:39521668:39521764:39521848:39521957 | 39521668:39521764 | ENSG00000161243.4 | ENST00000509137.2,ENST00000292853.4,ENST00000595166.1,ENST00000600828.1 |
| exon_skip_318362 | 19 | 39521924:39521960:39522503:39522893:39523142:39523165 | 39522503:39522893 | ENSG00000161243.4 | ENST00000509137.2,ENST00000292853.4 |
| exon_skip_318363 | 19 | 39521924:39521960:39522503:39522893:39523325:39523407 | 39522503:39522893 | ENSG00000161243.4 | ENST00000593847.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FBXO27 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_318358 | 19 | 39516158:39516194:39517509:39517645:39521668:39521764 | 39517509:39517645 | ENSG00000161243.4 | ENST00000509137.2,ENST00000292853.4,ENST00000600828.1,ENST00000594770.1,ENST00000595166.1 |
| exon_skip_318361 | 19 | 39517509:39517645:39521668:39521764:39521848:39521957 | 39521668:39521764 | ENSG00000161243.4 | ENST00000509137.2,ENST00000292853.4,ENST00000600828.1,ENST00000595166.1 |
| exon_skip_318363 | 19 | 39521924:39521960:39522503:39522893:39523325:39523407 | 39522503:39522893 | ENSG00000161243.4 | ENST00000593847.1 |
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 FBXO27 |
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 |
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 |
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Infer the effects of exon skipping event on protein functional features for FBXO27 |
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 |
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 |
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 |
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 |
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SNVs in the skipped exons for FBXO27 |
- 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 |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_318361 | 39521669 | 39521764 | 39521757 | 39521757 | Frame_Shift_Del | A | - | p.C162fs |
| KIRC | TCGA-CJ-4636-01 | exon_skip_318361 | 39521669 | 39521764 | 39521691 | 39521692 | Frame_Shift_Ins | - | C | p.I184fs |
| STAD | TCGA-VQ-A8DL-01 | exon_skip_318361 | 39521669 | 39521764 | 39521724 | 39521725 | Frame_Shift_Ins | - | CT | p.G173fs |
| STAD | TCGA-VQ-A8DL-01 | exon_skip_318361 | 39521669 | 39521764 | 39521724 | 39521725 | Frame_Shift_Ins | - | CT | p.S173fs |
| LUAD | TCGA-55-8506-01 | exon_skip_318358 | 39517510 | 39517645 | 39517531 | 39517531 | Nonsense_Mutation | C | T | p.W229* |
| LIHC | TCGA-UB-A7MB-01 | exon_skip_318358 | 39517510 | 39517645 | 39517611 | 39517611 | Nonsense_Mutation | T | A | p.R203* |
| LIHC | TCGA-UB-A7MB-01 | exon_skip_318358 | 39517510 | 39517645 | 39517611 | 39517611 | Nonsense_Mutation | T | A | p.R203X |
| PRAD | TCGA-XK-AAIW-01 | exon_skip_318361 | 39521669 | 39521764 | 39521716 | 39521716 | Nonsense_Mutation | C | T | p.W175* |
| HNSC | TCGA-IQ-7630-01 | exon_skip_318361 | 39521669 | 39521764 | 39521762 | 39521762 | Nonsense_Mutation | C | T | p.W160* |
- 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 |
| HEC6_ENDOMETRIUM | 39522504 | 39522893 | 39522776 | 39522776 | Frame_Shift_Del | G | - | p.P31fs |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39517510 | 39517645 | 39517538 | 39517538 | Missense_Mutation | G | A | p.P227L |
| SBC1_LUNG | 39517510 | 39517645 | 39517545 | 39517545 | Missense_Mutation | G | C | p.P225A |
| SKN3_UPPER_AERODIGESTIVE_TRACT | 39517510 | 39517645 | 39517587 | 39517587 | Missense_Mutation | C | T | p.A211T |
| BT474_BREAST | 39517510 | 39517645 | 39517640 | 39517640 | Missense_Mutation | C | T | p.G193E |
| VAESBJ_SOFT_TISSUE | 39521669 | 39521764 | 39521754 | 39521754 | Missense_Mutation | T | C | p.K163E |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39522504 | 39522893 | 39522518 | 39522518 | Missense_Mutation | T | C | p.N117S |
| HEC108_ENDOMETRIUM | 39522504 | 39522893 | 39522549 | 39522549 | Missense_Mutation | G | A | p.R107C |
| NCIH747_LARGE_INTESTINE | 39522504 | 39522893 | 39522648 | 39522648 | Missense_Mutation | C | A | p.D74Y |
| 5637_URINARY_TRACT | 39522504 | 39522893 | 39522693 | 39522693 | Missense_Mutation | C | T | p.A59T |
| CORL279_LUNG | 39522504 | 39522893 | 39522717 | 39522717 | Missense_Mutation | G | T | p.R51S |
| DL40_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39522504 | 39522893 | 39522735 | 39522735 | Missense_Mutation | T | C | p.T45A |
| PANC0403_PANCREAS | 39522504 | 39522893 | 39522746 | 39522746 | Missense_Mutation | A | G | p.V41A |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39522504 | 39522893 | 39522791 | 39522791 | Missense_Mutation | A | G | p.L26P |
| FLO1_OESOPHAGUS | 39521669 | 39521764 | 39521727 | 39521727 | Nonsense_Mutation | C | A | p.E172* |
| NCIH1155_LUNG | 39517510 | 39517645 | 39517510 | 39517510 | Splice_Site | G | A | p.H236H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FBXO27 |
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 FBXO27 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FBXO27 |
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RelatedDrugs for FBXO27 |
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 FBXO27 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |