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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 FBXL18 |
 Gene summary |
| Gene information | Gene symbol | FBXL18 | Gene ID | 80028 |
| Gene name | F-box and leucine rich repeat protein 18 | |
| Synonyms | Fbl18 | |
| Cytomap | 7p22.1 | |
| Type of gene | protein-coding | |
| Description | F-box/LRR-repeat protein 18 | |
| Modification date | 20180523 | |
| UniProtAcc | Q96ME1 | |
| Context | PubMed: FBXL18 [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 FBXL18 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 FBXL18 |
| 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 FBXL18 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_473455 | 7 | 5530861:5531080:5540118:5541662:5545042:5545261 | 5540118:5541662 | ENSG00000155034.14 | ENST00000415009.1,ENST00000382368.3,ENST00000453700.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FBXL18 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_473451 | 7 | 5470965:5471133:5478120:5478282:5487356:5487474 | 5478120:5478282 | ENSG00000155034.14 | ENST00000415009.1 |
| exon_skip_473454 | 7 | 5478120:5478282:5487356:5487474:5530861:5531080 | 5487356:5487474 | ENSG00000155034.14 | ENST00000415009.1 |
| exon_skip_473455 | 7 | 5530861:5531080:5540118:5541662:5545042:5545261 | 5540118:5541662 | ENSG00000155034.14 | ENST00000415009.1,ENST00000382368.3,ENST00000453700.3 |
| 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 FBXL18 |
| 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 FBXL18 |
| 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 FBXL18 |
| - 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 |
| LIHC | TCGA-DD-AAW2-01 | exon_skip_473455 | 5540119 | 5541662 | 5540596 | 5540605 | Frame_Shift_Del | GCGCGGTCGG | - | p.432_435del |
| SKCM | TCGA-EE-A2A5-06 | exon_skip_473455 | 5540119 | 5541662 | 5540665 | 5540666 | Frame_Shift_Del | AG | - | p.412_412del |
| SKCM | TCGA-EE-A2A5-06 | exon_skip_473455 | 5540119 | 5541662 | 5540665 | 5540666 | Frame_Shift_Del | AG | - | p.L412fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_473455 | 5540119 | 5541662 | 5540757 | 5540757 | Frame_Shift_Del | G | - | p.C382fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_473455 | 5540119 | 5541662 | 5540757 | 5540757 | Frame_Shift_Del | G | - | p.S381fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_473455 | 5540119 | 5541662 | 5540924 | 5540924 | Frame_Shift_Del | G | - | p.L326fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_473455 | 5540119 | 5541662 | 5541017 | 5541017 | Frame_Shift_Del | G | - | p.L295fs |
| STAD | TCGA-CG-4306-01 | exon_skip_473455 | 5540119 | 5541662 | 5541183 | 5541183 | Frame_Shift_Del | G | - | p.G240fs |
| BRCA | TCGA-AN-A0AM-01 | exon_skip_473455 | 5540119 | 5541662 | 5540158 | 5540158 | Nonsense_Mutation | G | T | p.S581* |
| - 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 |
| MDAMB361_BREAST | 5540119 | 5541662 | 5540607 | 5540608 | Frame_Shift_Ins | - | A | p.R431fs |
| MDAPCA2B_PROSTATE | 5540119 | 5541662 | 5540409 | 5540411 | In_Frame_Del | GGA | - | p.S497del |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5540119 | 5541662 | 5540285 | 5540285 | Missense_Mutation | C | A | p.A539S |
| CW2_LARGE_INTESTINE | 5540119 | 5541662 | 5540303 | 5540303 | Missense_Mutation | G | T | p.L533M |
| HEC59_ENDOMETRIUM | 5540119 | 5541662 | 5540335 | 5540335 | Missense_Mutation | G | A | p.S522L |
| NCIH322_LUNG | 5540119 | 5541662 | 5540349 | 5540349 | Missense_Mutation | C | G | p.Q517H |
| PEDS015T_SOFT_TISSUE | 5540119 | 5541662 | 5540395 | 5540395 | Missense_Mutation | T | A | p.N502I |
| HEC6_ENDOMETRIUM | 5540119 | 5541662 | 5540446 | 5540446 | Missense_Mutation | A | G | p.L485P |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5540119 | 5541662 | 5540506 | 5540506 | Missense_Mutation | C | T | p.G465D |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5540119 | 5541662 | 5540540 | 5540540 | Missense_Mutation | C | T | p.V454M |
| GP5D_LARGE_INTESTINE | 5540119 | 5541662 | 5540543 | 5540543 | Missense_Mutation | G | A | p.R453C |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5540119 | 5541662 | 5540573 | 5540573 | Missense_Mutation | C | T | p.A443T |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5540119 | 5541662 | 5540599 | 5540599 | Missense_Mutation | C | T | p.R434H |
| NCIH2342_LUNG | 5540119 | 5541662 | 5540615 | 5540615 | Missense_Mutation | C | A | p.A429S |
| SNUC5_LARGE_INTESTINE | 5540119 | 5541662 | 5540662 | 5540662 | Missense_Mutation | C | T | p.R413H |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5540119 | 5541662 | 5540663 | 5540663 | Missense_Mutation | G | A | p.R413C |
| EKVX_LUNG | 5540119 | 5541662 | 5540682 | 5540682 | Missense_Mutation | G | C | p.C406W |
| CAL51_BREAST | 5540119 | 5541662 | 5540683 | 5540683 | Missense_Mutation | C | T | p.C406Y |
| SW1783_CENTRAL_NERVOUS_SYSTEM | 5540119 | 5541662 | 5540692 | 5540692 | Missense_Mutation | C | T | p.R403H |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 5540119 | 5541662 | 5540698 | 5540698 | Missense_Mutation | A | T | p.L401Q |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5540119 | 5541662 | 5540723 | 5540723 | Missense_Mutation | C | T | p.A393T |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5540119 | 5541662 | 5540848 | 5540848 | Missense_Mutation | C | T | p.S351N |
| SNU1040_LARGE_INTESTINE | 5540119 | 5541662 | 5540873 | 5540873 | Missense_Mutation | G | A | p.R343W |
| SNU175_LARGE_INTESTINE | 5540119 | 5541662 | 5540876 | 5540876 | Missense_Mutation | G | T | p.L342M |
| OC316_OVARY | 5540119 | 5541662 | 5540955 | 5540955 | Missense_Mutation | G | C | p.N315K |
| OC314_OVARY | 5540119 | 5541662 | 5540955 | 5540955 | Missense_Mutation | G | C | p.N315K |
| HEC108_ENDOMETRIUM | 5540119 | 5541662 | 5540968 | 5540968 | Missense_Mutation | A | G | p.M311T |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5540119 | 5541662 | 5541040 | 5541040 | Missense_Mutation | G | A | p.A287V |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5540119 | 5541662 | 5541041 | 5541041 | Missense_Mutation | C | T | p.A287T |
| LU139_LUNG | 5540119 | 5541662 | 5541070 | 5541070 | Missense_Mutation | C | A | p.G277V |
| SNU1040_LARGE_INTESTINE | 5540119 | 5541662 | 5541110 | 5541110 | Missense_Mutation | C | T | p.A264T |
| CW2_LARGE_INTESTINE | 5540119 | 5541662 | 5541116 | 5541116 | Missense_Mutation | G | T | p.L262I |
| SNUC5_LARGE_INTESTINE | 5540119 | 5541662 | 5541163 | 5541163 | Missense_Mutation | A | G | p.V246A |
| HEC151_ENDOMETRIUM | 5540119 | 5541662 | 5541188 | 5541188 | Missense_Mutation | C | T | p.A238T |
| SNU175_LARGE_INTESTINE | 5540119 | 5541662 | 5541208 | 5541208 | Missense_Mutation | C | T | p.R231Q |
| TE4_OESOPHAGUS | 5540119 | 5541662 | 5541238 | 5541238 | Missense_Mutation | T | C | p.Q221R |
| NCIH322_LUNG | 5540119 | 5541662 | 5541259 | 5541259 | Missense_Mutation | G | A | p.S214L |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5540119 | 5541662 | 5541374 | 5541374 | Missense_Mutation | G | A | p.L176F |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5540119 | 5541662 | 5541409 | 5541409 | Missense_Mutation | C | T | p.S164N |
| OVK18_OVARY | 5540119 | 5541662 | 5541434 | 5541434 | Missense_Mutation | C | T | p.G156S |
| MHHNB11_AUTONOMIC_GANGLIA | 5540119 | 5541662 | 5541434 | 5541434 | Missense_Mutation | C | T | p.G156S |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5540119 | 5541662 | 5541483 | 5541483 | Missense_Mutation | C | T | p.M139I |
| SKN3_UPPER_AERODIGESTIVE_TRACT | 5540119 | 5541662 | 5541506 | 5541506 | Missense_Mutation | T | C | p.T132A |
| NCIH2595_PLEURA | 5540119 | 5541662 | 5541551 | 5541551 | Missense_Mutation | G | A | p.R117C |
| COV644_OVARY | 5540119 | 5541662 | 5541620 | 5541620 | Missense_Mutation | G | A | p.R94W |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5540119 | 5541662 | 5540509 | 5540509 | Nonsense_Mutation | G | T | p.S464* |
| SNUC5_LARGE_INTESTINE | 5540119 | 5541662 | 5541330 | 5541330 | Nonsense_Mutation | G | T | p.C190* |
| HMEL_BREAST | 5540119 | 5541662 | 5541661 | 5541662 | Splice_Site | - | C | p.A80fs |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FBXL18 |
| 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 |
| exon_skip_473455 | 7 | 5530861:5531080:5540118:5541662:5545042:5545261 | 5540118:5541662 | ENST00000415009.1,ENST00000382368.3,ENST00000453700.3 | BLCA | rs4724704 | chr7:5541657 | G/A | 1.37e-03 |
| exon_skip_473455 | 7 | 5530861:5531080:5540118:5541662:5545042:5545261 | 5540118:5541662 | ENST00000415009.1,ENST00000382368.3,ENST00000453700.3 | HNSC | rs6953642 | chr7:5540769 | A/C | 1.71e-03 |
| exon_skip_473455 | 7 | 5530861:5531080:5540118:5541662:5545042:5545261 | 5540118:5541662 | ENST00000415009.1,ENST00000382368.3,ENST00000453700.3 | BRCA | rs6953642 | chr7:5540769 | A/C | 2.60e-05 |
| exon_skip_473455 | 7 | 5530861:5531080:5540118:5541662:5545042:5545261 | 5540118:5541662 | ENST00000415009.1,ENST00000382368.3,ENST00000453700.3 | BRCA | rs6953642 | chr7:5540769 | A/C | 5.29e-05 |
| exon_skip_473455 | 7 | 5530861:5531080:5540118:5541662:5545042:5545261 | 5540118:5541662 | ENST00000415009.1,ENST00000382368.3,ENST00000453700.3 | PRAD | rs6953642 | chr7:5540769 | A/C | 3.84e-04 |
| exon_skip_473455 | 7 | 5530861:5531080:5540118:5541662:5545042:5545261 | 5540118:5541662 | ENST00000415009.1,ENST00000382368.3,ENST00000453700.3 | PRAD | rs6953642 | chr7:5540769 | A/C | 1.32e-03 |
| exon_skip_473455 | 7 | 5530861:5531080:5540118:5541662:5545042:5545261 | 5540118:5541662 | ENST00000415009.1,ENST00000382368.3,ENST00000453700.3 | THCA | rs6953642 | chr7:5540769 | A/C | 1.96e-04 |
| exon_skip_473455 | 7 | 5530861:5531080:5540118:5541662:5545042:5545261 | 5540118:5541662 | ENST00000415009.1,ENST00000382368.3,ENST00000453700.3 | THCA | rs6953642 | chr7:5540769 | A/C | 1.03e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FBXL18 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FBXL18 |
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RelatedDrugs for FBXL18 |
| 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 FBXL18 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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