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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 FGFR4 |
 Gene summary |
| Gene information | Gene symbol | FGFR4 | Gene ID | 2264 |
| Gene name | fibroblast growth factor receptor 4 | |
| Synonyms | CD334|JTK2|TKF | |
| Cytomap | 5q35.2 | |
| Type of gene | protein-coding | |
| Description | fibroblast growth factor receptor 4hydroxyaryl-protein kinaseprotein-tyrosine kinasetyrosine kinase related to fibroblast growth factor receptortyrosylprotein kinase | |
| Modification date | 20180523 | |
| UniProtAcc | P22455 | |
| Context | PubMed: FGFR4 [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 |
| FGFR4 | GO:0008284 | positive regulation of cell proliferation | 8663044 |
| FGFR4 | GO:0008543 | fibroblast growth factor receptor signaling pathway | 21653700 |
| FGFR4 | GO:0018108 | peptidyl-tyrosine phosphorylation | 18480409|20683963 |
| FGFR4 | GO:0046777 | protein autophosphorylation | 20798051 |
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Exon skipping events across known transcript of Ensembl for FGFR4 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 FGFR4 |
| 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 FGFR4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_439999 | 5 | 176513916:176514034:176515239:176515515:176516550:176516694 | 176515239:176515515 | ENSG00000160867.10 | ENST00000510911.1 |
| exon_skip_440003 | 5 | 176513916:176514034:176516550:176516694:176517390:176517561 | 176516550:176516694 | ENSG00000160867.10 | ENST00000292410.3,ENST00000393648.2,ENST00000502906.1 |
| exon_skip_440013 | 5 | 176513914:176514078:176516558:176516694:176517390:176517561 | 176516558:176516694 | ENSG00000160867.10 | ENST00000514472.1 |
| exon_skip_440016 | 5 | 176516603:176516694:176516858:176516941:176517390:176517561 | 176516858:176516941 | ENSG00000160867.10 | ENST00000430285.1 |
| exon_skip_440022 | 5 | 176516603:176516694:176517390:176517654:176517745:176517826 | 176517390:176517654 | ENSG00000160867.10 | ENST00000292410.3,ENST00000426612.1,ENST00000292408.4,ENST00000503708.1,ENST00000393648.2,ENST00000502906.1,ENST00000509511.1,ENST00000393637.1 |
| exon_skip_440031 | 5 | 176517651:176517654:176517745:176517826:176517938:176518105 | 176517745:176517826 | ENSG00000160867.10 | ENST00000292410.3,ENST00000292408.4,ENST00000503708.1,ENST00000430285.1,ENST00000393648.2,ENST00000502906.1,ENST00000509511.1,ENST00000393637.1 |
| exon_skip_440038 | 5 | 176519646:176519785:176520138:176520178:176520406:176520502 | 176520138:176520178 | ENSG00000160867.10 | ENST00000393648.2 |
| exon_skip_440039 | 5 | 176519646:176519785:176520138:176520332:176520406:176520502 | 176520138:176520332 | ENSG00000160867.10 | ENST00000292408.4,ENST00000502906.1 |
| exon_skip_440041 | 5 | 176522533:176522724:176523057:176523180:176523287:176523358 | 176523057:176523180 | ENSG00000160867.10 | ENST00000292410.3,ENST00000292408.4,ENST00000393648.2,ENST00000502906.1,ENST00000393637.1 |
| exon_skip_440042 | 5 | 176523287:176523358:176523604:176523742:176524292:176524398 | 176523604:176523742 | ENSG00000160867.10 | ENST00000292410.3,ENST00000292408.4,ENST00000393648.2,ENST00000502906.1,ENST00000393637.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FGFR4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_439999 | 5 | 176513916:176514034:176515239:176515515:176516550:176516694 | 176515239:176515515 | ENSG00000160867.10 | ENST00000510911.1 |
| exon_skip_440003 | 5 | 176513916:176514034:176516550:176516694:176517390:176517561 | 176516550:176516694 | ENSG00000160867.10 | ENST00000393648.2,ENST00000502906.1,ENST00000292410.3 |
| exon_skip_440013 | 5 | 176513914:176514078:176516558:176516694:176517390:176517561 | 176516558:176516694 | ENSG00000160867.10 | ENST00000514472.1 |
| exon_skip_440016 | 5 | 176516603:176516694:176516858:176516941:176517390:176517561 | 176516858:176516941 | ENSG00000160867.10 | ENST00000430285.1 |
| exon_skip_440022 | 5 | 176516603:176516694:176517390:176517654:176517745:176517826 | 176517390:176517654 | ENSG00000160867.10 | ENST00000292408.4,ENST00000503708.1,ENST00000393648.2,ENST00000502906.1,ENST00000292410.3,ENST00000393637.1,ENST00000426612.1,ENST00000509511.1 |
| exon_skip_440031 | 5 | 176517651:176517654:176517745:176517826:176517938:176518105 | 176517745:176517826 | ENSG00000160867.10 | ENST00000292408.4,ENST00000503708.1,ENST00000393648.2,ENST00000502906.1,ENST00000292410.3,ENST00000393637.1,ENST00000430285.1,ENST00000509511.1 |
| exon_skip_440038 | 5 | 176519646:176519785:176520138:176520178:176520406:176520502 | 176520138:176520178 | ENSG00000160867.10 | ENST00000393648.2 |
| exon_skip_440039 | 5 | 176519646:176519785:176520138:176520332:176520406:176520502 | 176520138:176520332 | ENSG00000160867.10 | ENST00000292408.4,ENST00000502906.1 |
| exon_skip_440041 | 5 | 176522533:176522724:176523057:176523180:176523287:176523358 | 176523057:176523180 | ENSG00000160867.10 | ENST00000292408.4,ENST00000393648.2,ENST00000502906.1,ENST00000292410.3,ENST00000393637.1 |
| exon_skip_440042 | 5 | 176523287:176523358:176523604:176523742:176524292:176524398 | 176523604:176523742 | ENSG00000160867.10 | ENST00000292408.4,ENST00000393648.2,ENST00000502906.1,ENST00000292410.3,ENST00000393637.1 |
| 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 FGFR4 |
| 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 |
| ENST00000502906 | 176516550 | 176516694 | 5CDS-5UTR |
| ENST00000292408 | 176520138 | 176520332 | Frame-shift |
| ENST00000502906 | 176520138 | 176520332 | Frame-shift |
| ENST00000292408 | 176517390 | 176517654 | In-frame |
| ENST00000502906 | 176517390 | 176517654 | In-frame |
| ENST00000292408 | 176517745 | 176517826 | In-frame |
| ENST00000502906 | 176517745 | 176517826 | In-frame |
| ENST00000292408 | 176523057 | 176523180 | In-frame |
| ENST00000502906 | 176523057 | 176523180 | In-frame |
| ENST00000292408 | 176523604 | 176523742 | In-frame |
| ENST00000502906 | 176523604 | 176523742 | 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 |
| ENST00000502906 | 176516550 | 176516694 | 5CDS-5UTR |
| ENST00000292408 | 176520138 | 176520332 | Frame-shift |
| ENST00000502906 | 176520138 | 176520332 | Frame-shift |
| ENST00000292408 | 176517390 | 176517654 | In-frame |
| ENST00000502906 | 176517390 | 176517654 | In-frame |
| ENST00000292408 | 176517745 | 176517826 | In-frame |
| ENST00000502906 | 176517745 | 176517826 | In-frame |
| ENST00000292408 | 176523057 | 176523180 | In-frame |
| ENST00000502906 | 176523057 | 176523180 | In-frame |
| ENST00000292408 | 176523604 | 176523742 | In-frame |
| ENST00000502906 | 176523604 | 176523742 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FGFR4 |
| 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 |
| ENST00000292408 | 3139 | 802 | 176517390 | 176517654 | 337 | 600 | 30 | 118 |
| ENST00000502906 | 2655 | 802 | 176517390 | 176517654 | 265 | 528 | 30 | 118 |
| ENST00000292408 | 3139 | 802 | 176517745 | 176517826 | 601 | 681 | 118 | 145 |
| ENST00000502906 | 2655 | 802 | 176517745 | 176517826 | 529 | 609 | 118 | 145 |
| ENST00000292408 | 3139 | 802 | 176523057 | 176523180 | 2067 | 2189 | 607 | 648 |
| ENST00000502906 | 2655 | 802 | 176523057 | 176523180 | 1995 | 2117 | 607 | 648 |
| ENST00000292408 | 3139 | 802 | 176523604 | 176523742 | 2261 | 2398 | 672 | 717 |
| ENST00000502906 | 2655 | 802 | 176523604 | 176523742 | 2189 | 2326 | 672 | 717 |
| 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 |
| ENST00000292408 | 3139 | 802 | 176517390 | 176517654 | 337 | 600 | 30 | 118 |
| ENST00000502906 | 2655 | 802 | 176517390 | 176517654 | 265 | 528 | 30 | 118 |
| ENST00000292408 | 3139 | 802 | 176517745 | 176517826 | 601 | 681 | 118 | 145 |
| ENST00000502906 | 2655 | 802 | 176517745 | 176517826 | 529 | 609 | 118 | 145 |
| ENST00000292408 | 3139 | 802 | 176523057 | 176523180 | 2067 | 2189 | 607 | 648 |
| ENST00000502906 | 2655 | 802 | 176523057 | 176523180 | 1995 | 2117 | 607 | 648 |
| ENST00000292408 | 3139 | 802 | 176523604 | 176523742 | 2261 | 2398 | 672 | 717 |
| ENST00000502906 | 2655 | 802 | 176523604 | 176523742 | 2189 | 2326 | 672 | 717 |
| 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 FGFR4 |
| - 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 |
| STAD | TCGA-HF-7132-01 | exon_skip_440039 | 176520139 | 176520332 | 176520278 | 176520278 | Frame_Shift_Del | C | - | p.H399fs |
| COAD | TCGA-F4-6703-01 | exon_skip_440042 | 176523605 | 176523742 | 176523645 | 176523645 | Frame_Shift_Del | G | - | p.L685fs |
| HNSC | TCGA-CV-A45V-01 | exon_skip_440013 exon_skip_440003 | 176516551 | 176516694 | 176516626 | 176516627 | Frame_Shift_Ins | - | G | p.W8fs |
| HNSC | TCGA-CV-A45V-01 | exon_skip_440013 exon_skip_440003 | 176516559 | 176516694 | 176516626 | 176516627 | Frame_Shift_Ins | - | G | p.W8fs |
| COAD | TCGA-DM-A28F-01 | exon_skip_440042 | 176523605 | 176523742 | 176523730 | 176523731 | Frame_Shift_Ins | - | C | p.C674fs |
| HNSC | TCGA-CV-7568-01 | exon_skip_440038 | 176520139 | 176520178 | 176520154 | 176520154 | Nonsense_Mutation | G | A | p.W358* |
| HNSC | TCGA-CV-7568-01 | exon_skip_440039 | 176520139 | 176520332 | 176520154 | 176520154 | Nonsense_Mutation | G | A | p.W358* |
| HNSC | TCGA-CV-7568-01 | exon_skip_440038 | 176520139 | 176520178 | 176520155 | 176520155 | Nonsense_Mutation | G | A | p.W358* |
| HNSC | TCGA-CV-7568-01 | exon_skip_440039 | 176520139 | 176520332 | 176520155 | 176520155 | Nonsense_Mutation | G | A | p.W358* |
| UCEC | TCGA-AP-A059-01 | exon_skip_440031 | 176517746 | 176517826 | 176517828 | 176517828 | Splice_Site | T | G | e3+2 |
| - 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 |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 176516559 | 176516694 | 176516649 | 176516649 | Missense_Mutation | G | C | p.G16R |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 176516551 | 176516694 | 176516649 | 176516649 | Missense_Mutation | G | C | p.G16R |
| TE9_OESOPHAGUS | 176517391 | 176517654 | 176517414 | 176517414 | Missense_Mutation | G | C | p.E39Q |
| MKN7_STOMACH | 176517391 | 176517654 | 176517474 | 176517474 | Missense_Mutation | C | T | p.R59W |
| NCIH146_LUNG | 176517391 | 176517654 | 176517601 | 176517601 | Missense_Mutation | G | A | p.C101Y |
| H4_CENTRAL_NERVOUS_SYSTEM | 176517746 | 176517826 | 176517755 | 176517755 | Missense_Mutation | C | A | p.T122N |
| MDAMB453_BREAST | 176520139 | 176520178 | 176520181 | 176520181 | Missense_Mutation | A | G | p.Y367C |
| MDAMB453_BREAST | 176520139 | 176520332 | 176520181 | 176520181 | Missense_Mutation | A | G | p.Y367C |
| NCIH810_LUNG | 176520139 | 176520332 | 176520201 | 176520201 | Missense_Mutation | G | A | p.A374T |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 176520139 | 176520332 | 176520202 | 176520202 | Missense_Mutation | C | T | p.A374V |
| MCC13_SKIN | 176523058 | 176523180 | 176523068 | 176523069 | Missense_Mutation | GG | AA | p.R611Q |
| MCC13_SKIN | 176523058 | 176523180 | 176523068 | 176523068 | Missense_Mutation | G | A | p.R611Q |
| SNUC2A_LARGE_INTESTINE | 176523058 | 176523180 | 176523082 | 176523082 | Missense_Mutation | C | T | p.R616C |
| SNUC2B_LARGE_INTESTINE | 176523058 | 176523180 | 176523082 | 176523082 | Missense_Mutation | C | T | p.R616C |
| NCIH187_LUNG | 176523605 | 176523742 | 176523661 | 176523661 | Missense_Mutation | C | T | p.P691L |
| NCIH2110_LUNG | 176523605 | 176523742 | 176523709 | 176523709 | Missense_Mutation | G | A | p.R707Q |
| NCIH2122_LUNG | 176523605 | 176523742 | 176523723 | 176523723 | Missense_Mutation | C | A | p.P712T |
| NCIH2347_LUNG | 176523605 | 176523742 | 176523727 | 176523727 | Missense_Mutation | A | G | p.H713R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FGFR4 |
| 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 FGFR4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FGFR4 |
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RelatedDrugs for FGFR4 |
| 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 |
| P22455 | DB00039 | Palifermin | Fibroblast growth factor receptor 4 | biotech | approved | |
| P22455 | DB01109 | Heparin | Fibroblast growth factor receptor 4 | small molecule | approved|investigational | |
| P22455 | DB08901 | Ponatinib | Fibroblast growth factor receptor 4 | small molecule | approved|investigational | |
| P22455 | DB09078 | Lenvatinib | Fibroblast growth factor receptor 4 | small molecule | approved|investigational |
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RelatedDiseases for FGFR4 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| FGFR4 | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| FGFR4 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| FGFR4 | C0035222 | Respiratory Distress Syndrome, Adult | 1 | CTD_human |
| FGFR4 | C0376358 | Malignant neoplasm of prostate | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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