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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 FGFR3 |
 Gene summary |
| Gene information | Gene symbol | FGFR3 | Gene ID | 2261 |
| Gene name | fibroblast growth factor receptor 3 | |
| Synonyms | ACH|CD333|CEK2|HSFGFR3EX|JTK4 | |
| Cytomap | 4p16.3 | |
| Type of gene | protein-coding | |
| Description | fibroblast growth factor receptor 3FGFR-3fibroblast growth factor receptor 3 variant 4fibroblast growth factor receptor 3-Shydroxyaryl-protein kinasetyrosine kinase JTK4 | |
| Modification date | 20200313 | |
| UniProtAcc | A0A3S5WLI4, A0A3S5XAL5, A0A5P8NAS4, A0N9W0, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| FGFR3 | GO:0008543 | fibroblast growth factor receptor signaling pathway | 8663044 |
| FGFR3 | GO:0018108 | peptidyl-tyrosine phosphorylation | 11294897 |
| FGFR3 | GO:0046777 | protein autophosphorylation | 11294897 |
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Gene structures and expression levels for FGFR3 |
| 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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ENSG00000068078
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PG | UP | ENST00000412135.6 | FGFR3-204:protein_coding:FGFR3 | 7.788284e+00 | 6.156727e+00 | 2.065365e-03 | 2.445062e-02 |
| CB | DOWN | ENST00000412135.6 | FGFR3-204:protein_coding:FGFR3 | 5.771878e+02 | -3.224039e+00 | 1.153668e-08 | 3.390682e-07 |
| TC | DOWN | ENST00000412135.6 | FGFR3-204:protein_coding:FGFR3 | 5.774163e+02 | -3.816872e+00 | 7.315728e-08 | 4.704639e-06 |
| 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 FGFR3 |
| 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_10434 | chr4 | 1801835:1802025:1802914:1803064:1803692:1803739 | 1802914:1803064 |
| exon_skip_175158 | chr4 | 1801992:1802025:1802914:1803064:1803692:1803739 | 1802914:1803064 |
| exon_skip_192230 | chr4 | 1805559:1805669:1805750:1805940:1806051:1806173 | 1805750:1805940 |
| exon_skip_210788 | chr4 | 1806257:1806327:1806546:1806683:1806829:1806934 | 1806546:1806683 |
| exon_skip_253498 | chr4 | 1802914:1803064:1803692:1803836:1804330:1804520 | 1803692:1803836 |
| exon_skip_264727 | chr4 | 1806062:1806173:1806257:1806327:1806546:1806683 | 1806257:1806327 |
| exon_skip_79021 | chr4 | 1806051:1806173:1806257:1806327:1806546:1806683 | 1806257:1806327 |
| exon_skip_80258 | chr4 | 1801887:1802025:1802914:1803064:1803692:1803739 | 1802914:1803064 |
| 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 FGFR3 |
| 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 |
| ENST00000440486 | 1805750 | 1805940 | Frame-shift |
| ENST00000440486 | 1806257 | 1806327 | Frame-shift |
| 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 |
| ENST00000440486 | 1806257 | 1806327 | Frame-shift |
| 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 |
| ENST00000440486 | 1806257 | 1806327 | Frame-shift |
| ENST00000440486 | 1806546 | 1806683 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FGFR3 |
p-ENSG00000068078_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 |
| 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 |
| ENST00000440486 | 4323 | 806 | 1806546 | 1806683 | 2307 | 2443 | 677 | 722 |
| 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 |
| 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 |
| P22607 | 677 | 722 | 654 | 806 | Alternative sequence | ID=VSP_040945;Note=In isoform 4. GRLPVKWMAPEALFDRVYTHQSDVWSFGVLLWEIFTLGGSPYPGIPVEELFKLLKEGHRMDKPANCTHDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTDEYLDLSAPFEQYSPGGQDTPSSSSSGDDSVFAHDLLPPAPPSSGGSRT->LVLWGPALGDLHAGGLPVPRHPCGGALQAAEGGPPHGQARQLHTRPVHDHAGVLACRALPEAHLQAA |
| P22607 | 677 | 722 | 23 | 806 | Chain | ID=PRO_0000016785;Note=Fibroblast growth factor receptor 3 |
| P22607 | 677 | 722 | 472 | 761 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P22607 | 677 | 722 | 673 | 688 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4K33 |
| P22607 | 677 | 722 | 700 | 708 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4K33 |
| P22607 | 677 | 722 | 721 | 730 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4K33 |
| P22607 | 677 | 722 | 717 | 717 | Natural variant | ID=VAR_022170;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.4;Dbxref=dbSNP:rs17882190 |
| P22607 | 677 | 722 | 397 | 806 | 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 FGFR3 |
| 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 FGFR3 |
| - 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 FGFR3 |
| 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 FGFR3 |
| 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 FGFR3 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for FGFR3 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P22607 | approved | DB00039 | Palifermin | biotech | P22607 |
| P22607 | approved | DB06589 | Pazopanib | small molecule | P22607 |
| P22607 | approved|investigational | DB08901 | Ponatinib | small molecule | P22607 |
| P22607 | approved|investigational | DB09078 | Lenvatinib | small molecule | P22607 |
| P22607 | approved | DB09079 | Nintedanib | small molecule | P22607 |
| P22607 | approved|investigational | DB12010 | Fostamatinib | small molecule | P22607 |
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RelatedDiseases for FGFR3 |
| 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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