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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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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 | 20200313 | |
| UniProtAcc | ||
| Context |
| 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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Gene structures and expression levels for FGFR4 |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000160867
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for FGFR4 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_147630 | chr5 | 177096287:177096357:177096604:177096741:177097292:177097397 | 177096604:177096741 |
| exon_skip_172017 | chr5 | 177089603:177089693:177089858:177089940:177090390:177090560 | 177089858:177089940 |
| exon_skip_228519 | chr5 | 177090390:177090653:177090745:177090825:177090938:177091104 | 177090745:177090825 |
| exon_skip_268222 | chr5 | 177095533:177095723:177096057:177096179:177096287:177096357 | 177096057:177096179 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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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 ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000292408 | 177090745 | 177090825 | In-frame |
| ENST00000502906 | 177090745 | 177090825 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB 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 Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000292408 | 177090745 | 177090825 | In-frame |
| ENST00000502906 | 177090745 | 177090825 | In-frame |
| ENST00000292408 | 177096057 | 177096179 | In-frame |
| ENST00000502906 | 177096057 | 177096179 | In-frame |
| ENST00000292408 | 177096604 | 177096741 | In-frame |
| ENST00000502906 | 177096604 | 177096741 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FGFR4 |
p-ENSG00000160867_img4.png |
| Loci of skipped exons in ROSMAP 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 | 177090745 | 177090825 | 602 | 681 | 119 | 145 |
| ENST00000502906 | 2655 | 802 | 177090745 | 177090825 | 530 | 609 | 119 | 145 |
| Loci of skipped exons in MSBB 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 Mayo 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 | 177090745 | 177090825 | 602 | 681 | 119 | 145 |
| ENST00000502906 | 2655 | 802 | 177090745 | 177090825 | 530 | 609 | 119 | 145 |
| ENST00000292408 | 3139 | 802 | 177096057 | 177096179 | 2068 | 2189 | 607 | 648 |
| ENST00000502906 | 2655 | 802 | 177096057 | 177096179 | 1996 | 2117 | 607 | 648 |
| ENST00000292408 | 3139 | 802 | 177096604 | 177096741 | 2262 | 2398 | 672 | 717 |
| ENST00000502906 | 2655 | 802 | 177096604 | 177096741 | 2190 | 2326 | 672 | 717 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| P22455 | 119 | 145 | 1 | 210 | Alternative sequence | ID=VSP_053542;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11781352;Dbxref=PMID:11781352 |
| P22455 | 119 | 145 | 1 | 210 | Alternative sequence | ID=VSP_053542;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11781352;Dbxref=PMID:11781352 |
| P22455 | 119 | 145 | 22 | 802 | Chain | ID=PRO_0000016787;Note=Fibroblast growth factor receptor 4 |
| P22455 | 119 | 145 | 22 | 802 | Chain | ID=PRO_0000016787;Note=Fibroblast growth factor receptor 4 |
| P22455 | 119 | 145 | 136 | 136 | Natural variant | ID=VAR_042211;Note=P->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10631118,ECO:0000269|PubMed:17344846,ECO:0000269|PubMed:21882254,ECO:0000269|Ref.10,ECO:0000269|Ref.7,ECO:0000269|Ref |
| P22455 | 119 | 145 | 136 | 136 | Natural variant | ID=VAR_042211;Note=P->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10631118,ECO:0000269|PubMed:17344846,ECO:0000269|PubMed:21882254,ECO:0000269|Ref.10,ECO:0000269|Ref.7,ECO:0000269|Ref |
| P22455 | 119 | 145 | 121 | 121 | Sequence conflict | Note=L->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P22455 | 119 | 145 | 121 | 121 | Sequence conflict | Note=L->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P22455 | 119 | 145 | 22 | 369 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P22455 | 119 | 145 | 22 | 369 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 Mayo. |
| 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 |
| P22455 | 119 | 145 | 1 | 210 | Alternative sequence | ID=VSP_053542;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11781352;Dbxref=PMID:11781352 |
| P22455 | 119 | 145 | 1 | 210 | Alternative sequence | ID=VSP_053542;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11781352;Dbxref=PMID:11781352 |
| P22455 | 119 | 145 | 22 | 802 | Chain | ID=PRO_0000016787;Note=Fibroblast growth factor receptor 4 |
| P22455 | 119 | 145 | 22 | 802 | Chain | ID=PRO_0000016787;Note=Fibroblast growth factor receptor 4 |
| P22455 | 119 | 145 | 136 | 136 | Natural variant | ID=VAR_042211;Note=P->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10631118,ECO:0000269|PubMed:17344846,ECO:0000269|PubMed:21882254,ECO:0000269|Ref.10,ECO:0000269|Ref.7,ECO:0000269|Ref |
| P22455 | 119 | 145 | 136 | 136 | Natural variant | ID=VAR_042211;Note=P->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10631118,ECO:0000269|PubMed:17344846,ECO:0000269|PubMed:21882254,ECO:0000269|Ref.10,ECO:0000269|Ref.7,ECO:0000269|Ref |
| P22455 | 119 | 145 | 121 | 121 | Sequence conflict | Note=L->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P22455 | 119 | 145 | 121 | 121 | Sequence conflict | Note=L->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P22455 | 119 | 145 | 22 | 369 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P22455 | 119 | 145 | 22 | 369 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P22455 | 607 | 648 | 612 | 612 | Active site | Note=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000255|PROSITE-ProRule:PRU10028 |
| P22455 | 607 | 648 | 612 | 612 | Active site | Note=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000255|PROSITE-ProRule:PRU10028 |
| P22455 | 607 | 648 | 618 | 620 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4QQT |
| P22455 | 607 | 648 | 618 | 620 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4QQT |
| P22455 | 607 | 648 | 626 | 628 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4QQT |
| P22455 | 607 | 648 | 626 | 628 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4QQT |
| P22455 | 607 | 648 | 642 | 644 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4UXQ |
| P22455 | 607 | 648 | 642 | 644 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4UXQ |
| P22455 | 607 | 648 | 22 | 802 | Chain | ID=PRO_0000016787;Note=Fibroblast growth factor receptor 4 |
| P22455 | 607 | 648 | 22 | 802 | Chain | ID=PRO_0000016787;Note=Fibroblast growth factor receptor 4 |
| P22455 | 607 | 648 | 467 | 755 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P22455 | 607 | 648 | 467 | 755 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P22455 | 607 | 648 | 615 | 617 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4QQT |
| P22455 | 607 | 648 | 615 | 617 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4QQT |
| P22455 | 607 | 648 | 637 | 639 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4QQT |
| P22455 | 607 | 648 | 637 | 639 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4QQT |
| P22455 | 607 | 648 | 642 | 642 | Modified residue | Note=Phosphotyrosine%3B by autocatalysis;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18670643;Dbxref=PMID:18670643 |
| P22455 | 607 | 648 | 642 | 642 | Modified residue | Note=Phosphotyrosine%3B by autocatalysis;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18670643;Dbxref=PMID:18670643 |
| P22455 | 607 | 648 | 643 | 643 | Modified residue | Note=Phosphotyrosine%3B by autocatalysis;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18670643;Dbxref=PMID:18670643 |
| P22455 | 607 | 648 | 643 | 643 | Modified residue | Note=Phosphotyrosine%3B by autocatalysis;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18670643;Dbxref=PMID:18670643 |
| P22455 | 607 | 648 | 391 | 802 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P22455 | 607 | 648 | 391 | 802 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P22455 | 607 | 648 | 631 | 635 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XCU |
| P22455 | 607 | 648 | 631 | 635 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XCU |
| P22455 | 672 | 717 | 689 | 692 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TYJ |
| P22455 | 672 | 717 | 689 | 692 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4TYJ |
| P22455 | 672 | 717 | 22 | 802 | Chain | ID=PRO_0000016787;Note=Fibroblast growth factor receptor 4 |
| P22455 | 672 | 717 | 22 | 802 | Chain | ID=PRO_0000016787;Note=Fibroblast growth factor receptor 4 |
| P22455 | 672 | 717 | 467 | 755 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P22455 | 672 | 717 | 467 | 755 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P22455 | 672 | 717 | 668 | 683 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4QQT |
| P22455 | 672 | 717 | 668 | 683 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4QQT |
| P22455 | 672 | 717 | 695 | 703 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4QQT |
| P22455 | 672 | 717 | 695 | 703 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4QQT |
| P22455 | 672 | 717 | 716 | 725 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4QQT |
| P22455 | 672 | 717 | 716 | 725 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4QQT |
| P22455 | 672 | 717 | 712 | 712 | Natural variant | ID=VAR_046104;Note=In a lung adenocarcinoma sample%3B somatic mutation. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=PMID:17344846 |
| P22455 | 672 | 717 | 712 | 712 | Natural variant | ID=VAR_046104;Note=In a lung adenocarcinoma sample%3B somatic mutation. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=PMID:17344846 |
| P22455 | 672 | 717 | 391 | 802 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P22455 | 672 | 717 | 391 | 802 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in FGFR4 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for FGFR4 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for FGFR4 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FGFR4 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for FGFR4 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for FGFR4 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P22455 | approved | DB00039 | Palifermin | biotech | P22455 |
| P22455 | approved|investigational | DB01109 | Heparin | small molecule | P22455 |
| P22455 | approved|investigational | DB08901 | Ponatinib | small molecule | P22455 |
| P22455 | approved|investigational | DB09078 | Lenvatinib | small molecule | P22455 |
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RelatedDiseases for FGFR4 |
| 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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