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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 FBXO8 |
Gene summary |
| Gene information | Gene symbol | FBXO8 | Gene ID | 26269 |
| Gene name | F-box protein 8 | |
| Synonyms | DC10|FBS|FBX8 | |
| Cytomap | 4q34.1 | |
| Type of gene | protein-coding | |
| Description | F-box only protein 8F-box protein Fbx8F-box/SEC7 protein FBS | |
| Modification date | 20180519 | |
| UniProtAcc | Q9NRD0 | |
| Context | PubMed: FBXO8 [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 FBXO8 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 FBXO8 |
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 FBXO8 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_433095 | 4 | 175158509:175158750:175160144:175160341:175162250:175162369 | 175160144:175160341 | ENSG00000164117.8 | ENST00000515664.1,ENST00000503293.1,ENST00000393674.2 |
| exon_skip_433097 | 4 | 175162273:175162369:175177177:175177296:175180849:175180976 | 175177177:175177296 | ENSG00000164117.8 | ENST00000515664.1 |
| exon_skip_433098 | 4 | 175162273:175162369:175180849:175180976:175183914:175183946 | 175180849:175180976 | ENSG00000164117.8 | ENST00000513696.1,ENST00000503293.1,ENST00000393674.2 |
| exon_skip_433102 | 4 | 175183914:175184251:175190204:175190318:175204560:175204814 | 175190204:175190318 | ENSG00000164117.8 | ENST00000513696.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FBXO8 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_433095 | 4 | 175158509:175158750:175160144:175160341:175162250:175162369 | 175160144:175160341 | ENSG00000164117.8 | ENST00000393674.2,ENST00000503293.1,ENST00000515664.1 |
| exon_skip_433097 | 4 | 175162273:175162369:175177177:175177296:175180849:175180976 | 175177177:175177296 | ENSG00000164117.8 | ENST00000515664.1 |
| exon_skip_433098 | 4 | 175162273:175162369:175180849:175180976:175183914:175183946 | 175180849:175180976 | ENSG00000164117.8 | ENST00000393674.2,ENST00000503293.1,ENST00000513696.1 |
| exon_skip_433102 | 4 | 175183914:175184251:175190204:175190318:175204560:175204814 | 175190204:175190318 | ENSG00000164117.8 | ENST00000513696.1 |
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 FBXO8 |
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 |
| ENST00000393674 | 175160144 | 175160341 | Frame-shift |
| ENST00000393674 | 175180849 | 175180976 | Frame-shift |
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 |
| ENST00000393674 | 175160144 | 175160341 | Frame-shift |
| ENST00000393674 | 175180849 | 175180976 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for FBXO8 |
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 FBXO8 |
- 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-DD-A1EG-01 | exon_skip_433095 | 175160145 | 175160341 | 175160246 | 175160246 | Frame_Shift_Del | G | - | p.P224fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_433095 | 175160145 | 175160341 | 175160263 | 175160263 | Frame_Shift_Del | A | - | p.F218fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_433095 | 175160145 | 175160341 | 175160263 | 175160263 | Frame_Shift_Del | A | - | p.F218fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_433095 | 175160145 | 175160341 | 175160263 | 175160263 | Frame_Shift_Del | A | - | p.R219fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_433098 | 175180850 | 175180976 | 175180868 | 175180868 | Frame_Shift_Del | A | - | p.F146fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_433098 | 175180850 | 175180976 | 175180915 | 175180915 | Frame_Shift_Del | A | - | p.S131fs |
- 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 |
| NCIH23_LUNG | 175160145 | 175160341 | 175160153 | 175160153 | Missense_Mutation | A | C | p.L255R |
| HEC251_ENDOMETRIUM | 175160145 | 175160341 | 175160172 | 175160172 | Missense_Mutation | A | C | p.L249V |
| CW2_LARGE_INTESTINE | 175160145 | 175160341 | 175160195 | 175160195 | Missense_Mutation | C | A | p.R241I |
| SNU81_LARGE_INTESTINE | 175160145 | 175160341 | 175160246 | 175160246 | Missense_Mutation | G | A | p.P224L |
| A101D_SKIN | 175160145 | 175160341 | 175160262 | 175160262 | Missense_Mutation | G | A | p.R219C |
| HS294T_SKIN | 175160145 | 175160341 | 175160262 | 175160262 | Missense_Mutation | G | A | p.R219C |
| IM95_STOMACH | 175160145 | 175160341 | 175160269 | 175160269 | Missense_Mutation | T | A | p.E216D |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 175180850 | 175180976 | 175180853 | 175180853 | Missense_Mutation | A | C | p.D151E |
| KM12_LARGE_INTESTINE | 175180850 | 175180976 | 175180876 | 175180876 | Missense_Mutation | G | A | p.L144F |
| HCT116_LARGE_INTESTINE | 175180850 | 175180976 | 175180892 | 175180892 | Missense_Mutation | C | A | p.Q138H |
| JHUEM7_ENDOMETRIUM | 175180850 | 175180976 | 175180905 | 175180905 | Missense_Mutation | T | G | p.K134T |
| MEWO_SKIN | 175180850 | 175180976 | 175180947 | 175180947 | Missense_Mutation | G | A | p.S120F |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 175180850 | 175180976 | 175180969 | 175180969 | Missense_Mutation | T | C | p.K113E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FBXO8 |
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 FBXO8 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FBXO8 |
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RelatedDrugs for FBXO8 |
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 FBXO8 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |