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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 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 4hydroxyaryl-protein kinasetyrosine kinase JTK4 | |
| Modification date | 20180523 | |
| UniProtAcc | P22607 | |
| Context | PubMed: FGFR3 [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 |
| 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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Exon skipping events across known transcript of Ensembl for FGFR3 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 FGFR3 |
| 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 FGFR3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_421290 | 4 | 1795038:1795192:1795559:1795770:1800980:1801250 | 1795559:1795770 | ENSG00000068078.13 | ENST00000412135.2,ENST00000340107.4,ENST00000440486.2 |
| exon_skip_421309 | 4 | 1803561:1803752:1804640:1804791:1806056:1806247 | 1804640:1804791 | ENSG00000068078.13 | ENST00000340107.4 |
| exon_skip_421316 | 4 | 1803561:1803752:1805418:1805563:1806056:1806247 | 1805418:1805563 | ENSG00000068078.13 | ENST00000260795.2,ENST00000440486.2,ENST00000481110.2 |
| exon_skip_421338 | 4 | 1803561:1803752:1806550:1806696:1807081:1807203 | 1806550:1806696 | ENSG00000068078.13 | ENST00000412135.2,ENST00000352904.1 |
| exon_skip_421349 | 4 | 1804640:1804791:1806056:1806247:1806550:1806696 | 1806056:1806247 | ENSG00000068078.13 | ENST00000340107.4 |
| exon_skip_421359 | 4 | 1805418:1805563:1806056:1806247:1806550:1806696 | 1806056:1806247 | ENSG00000068078.13 | ENST00000260795.2,ENST00000440486.2 |
| exon_skip_421362 | 4 | 1806056:1806247:1806547:1806696:1807081:1807203 | 1806547:1806696 | ENSG00000068078.13 | ENST00000481110.2 |
| exon_skip_421363 | 4 | 1806056:1806247:1806550:1806696:1807081:1807203 | 1806550:1806696 | ENSG00000068078.13 | ENST00000260795.2,ENST00000340107.4,ENST00000440486.2 |
| exon_skip_421367 | 4 | 1807788:1807900:1807983:1808054:1808272:1808410 | 1807983:1808054 | ENSG00000068078.13 | ENST00000260795.2,ENST00000412135.2,ENST00000340107.4,ENST00000440486.2,ENST00000352904.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FGFR3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_421290 | 4 | 1795038:1795192:1795559:1795770:1800980:1801250 | 1795559:1795770 | ENSG00000068078.13 | ENST00000340107.4,ENST00000440486.2,ENST00000412135.2 |
| exon_skip_421309 | 4 | 1803561:1803752:1804640:1804791:1806056:1806247 | 1804640:1804791 | ENSG00000068078.13 | ENST00000340107.4 |
| exon_skip_421316 | 4 | 1803561:1803752:1805418:1805563:1806056:1806247 | 1805418:1805563 | ENSG00000068078.13 | ENST00000481110.2,ENST00000440486.2,ENST00000260795.2 |
| exon_skip_421338 | 4 | 1803561:1803752:1806550:1806696:1807081:1807203 | 1806550:1806696 | ENSG00000068078.13 | ENST00000412135.2,ENST00000352904.1 |
| exon_skip_421349 | 4 | 1804640:1804791:1806056:1806247:1806550:1806696 | 1806056:1806247 | ENSG00000068078.13 | ENST00000340107.4 |
| exon_skip_421359 | 4 | 1805418:1805563:1806056:1806247:1806550:1806696 | 1806056:1806247 | ENSG00000068078.13 | ENST00000440486.2,ENST00000260795.2 |
| exon_skip_421362 | 4 | 1806056:1806247:1806547:1806696:1807081:1807203 | 1806547:1806696 | ENSG00000068078.13 | ENST00000481110.2 |
| exon_skip_421363 | 4 | 1806056:1806247:1806550:1806696:1807081:1807203 | 1806550:1806696 | ENSG00000068078.13 | ENST00000340107.4,ENST00000440486.2,ENST00000260795.2 |
| exon_skip_421367 | 4 | 1807788:1807900:1807983:1808054:1808272:1808410 | 1807983:1808054 | ENSG00000068078.13 | ENST00000340107.4,ENST00000440486.2,ENST00000412135.2,ENST00000260795.2,ENST00000352904.1 |
| 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 FGFR3 |
| 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 |
| ENST00000440486 | 1795559 | 1795770 | 5CDS-5UTR |
| ENST00000440486 | 1805418 | 1805563 | Frame-shift |
| ENST00000440486 | 1806056 | 1806247 | Frame-shift |
| ENST00000440486 | 1806550 | 1806696 | Frame-shift |
| ENST00000440486 | 1807983 | 1808054 | 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 |
| ENST00000440486 | 1795559 | 1795770 | 5CDS-5UTR |
| ENST00000440486 | 1805418 | 1805563 | Frame-shift |
| ENST00000440486 | 1806056 | 1806247 | Frame-shift |
| ENST00000440486 | 1806550 | 1806696 | Frame-shift |
| ENST00000440486 | 1807983 | 1808054 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for FGFR3 |
| 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 FGFR3 |
| - 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 |
| GBM | TCGA-32-2498-01 | exon_skip_421359 exon_skip_421349 | 1806057 | 1806247 | 1806181 | 1806181 | Frame_Shift_Del | C | - | p.S400fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_421359 exon_skip_421349 | 1806057 | 1806247 | 1806196 | 1806196 | Frame_Shift_Del | C | - | p.G407fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_421367 | 1807984 | 1808054 | 1807999 | 1807999 | Frame_Shift_Del | A | - | p.K661fs |
| COAD | TCGA-AZ-4615-01 | exon_skip_421359 exon_skip_421349 | 1806057 | 1806247 | 1806180 | 1806181 | Frame_Shift_Ins | - | C | p.S400fs |
| STAD | TCGA-BR-6452-01 | exon_skip_421359 exon_skip_421349 | 1806057 | 1806247 | 1806181 | 1806182 | Frame_Shift_Ins | - | C | p.S400fs |
| KIRC | TCGA-B0-5109-01 | exon_skip_421309 | 1804641 | 1804791 | 1804696 | 1804696 | Nonsense_Mutation | C | A | p.S329* |
| KIRC | TCGA-B0-5109-01 | exon_skip_421309 | 1804641 | 1804791 | 1804696 | 1804696 | Nonsense_Mutation | C | A | p.S329X |
| BLCA | TCGA-4Z-AA81-01 | exon_skip_421367 | 1807984 | 1808054 | 1808044 | 1808044 | Nonsense_Mutation | C | T | p.Q676* |
| - 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 |
| TOV21G_OVARY | 1806057 | 1806247 | 1806181 | 1806181 | Frame_Shift_Del | C | - | p.S400fs |
| EN_ENDOMETRIUM | 1806057 | 1806247 | 1806180 | 1806181 | Frame_Shift_Ins | - | CC | p.SP400fs |
| NCIH358_LUNG | 1795560 | 1795770 | 1795762 | 1795762 | Missense_Mutation | G | A | p.R34Q |
| MERO14_LUNG | 1805419 | 1805563 | 1805432 | 1805432 | Missense_Mutation | A | C | p.N315T |
| KM12_LARGE_INTESTINE | 1805419 | 1805563 | 1805482 | 1805482 | Missense_Mutation | G | A | p.E332K |
| HEC108_ENDOMETRIUM | 1805419 | 1805563 | 1805510 | 1805510 | Missense_Mutation | C | T | p.A341V |
| KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1806057 | 1806247 | 1806099 | 1806099 | Missense_Mutation | A | G | p.Y373C |
| EFO27_OVARY | 1806057 | 1806247 | 1806101 | 1806101 | Missense_Mutation | G | A | p.A374T |
| WM2664_SKIN | 1806057 | 1806247 | 1806186 | 1806186 | Missense_Mutation | C | T | p.P402L |
| WM115_SKIN | 1806057 | 1806247 | 1806186 | 1806186 | Missense_Mutation | C | T | p.P402L |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1806057 | 1806247 | 1806212 | 1806212 | Missense_Mutation | G | A | p.V411M |
| LN428_CENTRAL_NERVOUS_SYSTEM | 1806057 | 1806247 | 1806220 | 1806220 | Missense_Mutation | G | C | p.K413N |
| SNUC4_LARGE_INTESTINE | 1806551 | 1806696 | 1806569 | 1806569 | Missense_Mutation | G | A | p.A429T |
| SNUC4_LARGE_INTESTINE | 1806548 | 1806696 | 1806569 | 1806569 | Missense_Mutation | G | A | p.A429T |
| HMY1_SKIN | 1806551 | 1806696 | 1806573 | 1806573 | Missense_Mutation | C | T | p.S430F |
| HMY1_SKIN | 1806548 | 1806696 | 1806573 | 1806573 | Missense_Mutation | C | T | p.S430F |
| HEL9217_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1806551 | 1806696 | 1806575 | 1806575 | Missense_Mutation | A | G | p.M431V |
| HEL9217_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1806548 | 1806696 | 1806575 | 1806575 | Missense_Mutation | A | G | p.M431V |
| HEL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1806551 | 1806696 | 1806575 | 1806575 | Missense_Mutation | A | G | p.M431V |
| HEL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1806548 | 1806696 | 1806575 | 1806575 | Missense_Mutation | A | G | p.M431V |
| MM127_SKIN | 1806551 | 1806696 | 1806663 | 1806663 | Missense_Mutation | C | T | p.P460L |
| MM127_SKIN | 1806548 | 1806696 | 1806663 | 1806663 | Missense_Mutation | C | T | p.P460L |
| LAN2_AUTONOMIC_GANGLIA | 1806551 | 1806696 | 1806695 | 1806695 | Splice_Site | C | T | p.R471W |
| LAN2_AUTONOMIC_GANGLIA | 1806548 | 1806696 | 1806695 | 1806695 | Splice_Site | C | T | p.R471W |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FGFR3 |
| 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 FGFR3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FGFR3 |
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RelatedDrugs for FGFR3 |
| 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 |
| P22607 | DB00039 | Palifermin | Fibroblast growth factor receptor 3 | biotech | approved | |
| P22607 | DB06589 | Pazopanib | Fibroblast growth factor receptor 3 | small molecule | approved | |
| P22607 | DB09079 | Nintedanib | Fibroblast growth factor receptor 3 | small molecule | approved | |
| P22607 | DB08901 | Ponatinib | Fibroblast growth factor receptor 3 | small molecule | approved|investigational | |
| P22607 | DB09078 | Lenvatinib | Fibroblast growth factor receptor 3 | small molecule | approved|investigational | |
| P22607 | DB12010 | Fostamatinib | Fibroblast growth factor receptor 3 | small molecule | approved|investigational |
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RelatedDiseases for FGFR3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| FGFR3 | C0022603 | Seborrheic keratosis | 21 | UNIPROT |
| FGFR3 | C0001080 | Achondroplasia | 8 | CTD_human;ORPHANET;UNIPROT |
| FGFR3 | C0410529 | Hypochondroplasia (disorder) | 8 | CTD_human;ORPHANET;UNIPROT |
| FGFR3 | C0334082 | NEVUS, EPIDERMAL (disorder) | 7 | CTD_human;UNIPROT |
| FGFR3 | C0005695 | Bladder Neoplasm | 4 | CTD_human |
| FGFR3 | C1864436 | Muenke Syndrome | 4 | CTD_human;ORPHANET;UNIPROT |
| FGFR3 | C0005684 | Malignant neoplasm of urinary bladder | 3 | UNIPROT |
| FGFR3 | C2677099 | CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) | 3 | CTD_human;ORPHANET;UNIPROT |
| FGFR3 | C0007138 | Carcinoma, Transitional Cell | 1 | CTD_human |
| FGFR3 | C0008924 | Cleft Lip | 1 | CTD_human |
| FGFR3 | C0008925 | Cleft Palate | 1 | CTD_human |
| FGFR3 | C0026764 | Multiple Myeloma | 1 | CTD_human |
| FGFR3 | C0036631 | Seminoma | 1 | CTD_human |
| FGFR3 | C0039743 | Thanatophoric Dysplasia | 1 | CTD_human |
| FGFR3 | C0265269 | Lacrimoauriculodentodigital syndrome | 1 | CTD_human;ORPHANET;UNIPROT |
| FGFR3 | C1864852 | CATSHL syndrome | 1 | CTD_human;ORPHANET;UNIPROT |
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