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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 FGFR2 |
 Gene summary |
| Gene information | Gene symbol | FGFR2 | Gene ID | 2263 |
| Gene name | fibroblast growth factor receptor 2 | |
| Synonyms | BBDS|BEK|BFR-1|CD332|CEK3|CFD1|ECT1|JWS|K-SAM|KGFR|TK14|TK25 | |
| Cytomap | 10q26.13 | |
| Type of gene | protein-coding | |
| Description | fibroblast growth factor receptor 2BEK fibroblast growth factor receptorbacteria-expressed kinasekeratinocyte growth factor receptorprotein tyrosine kinase, receptor like 14 | |
| Modification date | 20180527 | |
| UniProtAcc | P21802 | |
| Context | PubMed: FGFR2 [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 |
| FGFR2 | GO:0008284 | positive regulation of cell proliferation | 8663044 |
| FGFR2 | GO:0008543 | fibroblast growth factor receptor signaling pathway | 8663044|15629145 |
| FGFR2 | GO:0018108 | peptidyl-tyrosine phosphorylation | 15629145|16844695 |
| FGFR2 | GO:0046777 | protein autophosphorylation | 15629145 |
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Exon skipping events across known transcript of Ensembl for FGFR2 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 FGFR2 |
| 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 FGFR2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_54461 | 10 | 123239368:123239535:123243211:123243317:123244908:123245046 | 123243211:123243317 | ENSG00000066468.16 | ENST00000478859.1,ENST00000457416.2,ENST00000356226.4,ENST00000369061.4,ENST00000358487.5,ENST00000369060.4,ENST00000369059.1,ENST00000604236.1,ENST00000346997.2 |
| exon_skip_54465 | 10 | 123256045:123256236:123258008:123258119:123260339:123260461 | 123258008:123258119 | ENSG00000066468.16 | ENST00000478859.1,ENST00000457416.2,ENST00000356226.4,ENST00000357555.5,ENST00000351936.6,ENST00000429361.1,ENST00000369061.4,ENST00000358487.5,ENST00000360144.3,ENST00000369060.4,ENST00000369058.3,ENST00000369059.1,ENST00000604236.1,ENST00000346997.2,ENS |
| exon_skip_54467 | 10 | 123263303:123263455:123274630:123274833:123298105:123298229 | 123274630:123274833 | ENSG00000066468.16 | ENST00000369061.4 |
| exon_skip_54470 | 10 | 123263303:123263455:123279492:123279683:123298105:123298229 | 123279492:123279683 | ENSG00000066468.16 | ENST00000369060.4 |
| exon_skip_54471 | 10 | 123274740:123274833:123276832:123276977:123278195:123278343 | 123276832:123276977 | ENSG00000066468.16 | ENST00000604236.1,ENST00000463870.1 |
| exon_skip_54472 | 10 | 123274740:123274833:123276832:123276977:123279492:123279683 | 123276832:123276977 | ENSG00000066468.16 | ENST00000478859.1,ENST00000356226.4,ENST00000357555.5,ENST00000351936.6,ENST00000358487.5,ENST00000346997.2,ENST00000336553.6 |
| exon_skip_54476 | 10 | 123274740:123274833:123278195:123278343:123279492:123279683 | 123278195:123278343 | ENSG00000066468.16 | ENST00000457416.2,ENST00000360144.3,ENST00000369058.3,ENST00000369059.1,ENST00000369056.1 |
| exon_skip_54478 | 10 | 123276883:123276977:123278195:123278343:123279492:123279683 | 123278195:123278343 | ENSG00000066468.16 | ENST00000490349.1,ENST00000604236.1 |
| exon_skip_54484 | 10 | 123298105:123298229:123310803:123310973:123324015:123324093 | 123310803:123310973 | ENSG00000066468.16 | ENST00000359354.2,ENST00000457416.2,ENST00000357555.5,ENST00000351936.6,ENST00000369061.4,ENST00000358487.5,ENST00000360144.3,ENST00000490349.1,ENST00000369060.4,ENST00000369058.3,ENST00000346997.2,ENST00000336553.6,ENST00000369056.1 |
| exon_skip_54485 | 10 | 123298105:123298229:123310803:123310973:123353222:123353343 | 123310803:123310973 | ENSG00000066468.16 | ENST00000356226.4,ENST00000369059.1,ENST00000604236.1 |
| exon_skip_54489 | 10 | 123310803:123310973:123324015:123324093:123353222:123353343 | 123324015:123324093 | ENSG00000066468.16 | ENST00000357555.5,ENST00000360144.3,ENST00000336553.6 |
| exon_skip_54491 | 10 | 123310803:123310973:123353222:123353481:123357475:123357586 | 123353222:123353481 | ENSG00000066468.16 | ENST00000356226.4,ENST00000369059.1,ENST00000604236.1 |
| exon_skip_54495 | 10 | 123324015:123324093:123324951:123325218:123353222:123353343 | 123324951:123325218 | ENSG00000066468.16 | ENST00000359354.2,ENST00000457416.2,ENST00000351936.6,ENST00000369061.4,ENST00000358487.5,ENST00000490349.1,ENST00000369060.4,ENST00000369058.3,ENST00000346997.2,ENST00000369056.1 |
| exon_skip_54498 | 10 | 123324015:123324093:123353222:123353481:123357475:123357586 | 123353222:123353481 | ENSG00000066468.16 | ENST00000360144.3,ENST00000336553.6 |
| exon_skip_54500 | 10 | 123324951:123325218:123353222:123353481:123357475:123357586 | 123353222:123353481 | ENSG00000066468.16 | ENST00000359354.2,ENST00000457416.2,ENST00000351936.6,ENST00000358487.5,ENST00000490349.1,ENST00000369060.4,ENST00000369058.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FGFR2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_54461 | 10 | 123239368:123239535:123243211:123243317:123244908:123245046 | 123243211:123243317 | ENSG00000066468.16 | ENST00000369061.4,ENST00000358487.5,ENST00000478859.1,ENST00000356226.4,ENST00000369060.4,ENST00000604236.1,ENST00000369059.1,ENST00000346997.2,ENST00000457416.2 |
| exon_skip_54465 | 10 | 123256045:123256236:123258008:123258119:123260339:123260461 | 123258008:123258119 | ENSG00000066468.16 | ENST00000357555.5,ENST00000369061.4,ENST00000358487.5,ENST00000478859.1,ENST00000356226.4,ENST00000369060.4,ENST00000604236.1,ENST00000369059.1,ENST00000429361.1,ENST00000346997.2,ENST00000457416.2,ENST00000351936.6,ENST00000360144.3,ENST00000369056.1,ENS |
| exon_skip_54467 | 10 | 123263303:123263455:123274630:123274833:123298105:123298229 | 123274630:123274833 | ENSG00000066468.16 | ENST00000369061.4 |
| exon_skip_54470 | 10 | 123263303:123263455:123279492:123279683:123298105:123298229 | 123279492:123279683 | ENSG00000066468.16 | ENST00000369060.4 |
| exon_skip_54471 | 10 | 123274740:123274833:123276832:123276977:123278195:123278343 | 123276832:123276977 | ENSG00000066468.16 | ENST00000604236.1,ENST00000463870.1 |
| exon_skip_54472 | 10 | 123274740:123274833:123276832:123276977:123279492:123279683 | 123276832:123276977 | ENSG00000066468.16 | ENST00000357555.5,ENST00000358487.5,ENST00000478859.1,ENST00000356226.4,ENST00000346997.2,ENST00000351936.6,ENST00000336553.6 |
| exon_skip_54476 | 10 | 123274740:123274833:123278195:123278343:123279492:123279683 | 123278195:123278343 | ENSG00000066468.16 | ENST00000369059.1,ENST00000457416.2,ENST00000360144.3,ENST00000369056.1,ENST00000369058.3 |
| exon_skip_54478 | 10 | 123276883:123276977:123278195:123278343:123279492:123279683 | 123278195:123278343 | ENSG00000066468.16 | ENST00000604236.1,ENST00000490349.1 |
| exon_skip_54479 | 10 | 123279492:123279683:123285668:123285708:123286242:123286468 | 123285668:123285708 | ENSG00000066468.16 | ENST00000478859.1 |
| exon_skip_54484 | 10 | 123298105:123298229:123310803:123310973:123324015:123324093 | 123310803:123310973 | ENSG00000066468.16 | ENST00000357555.5,ENST00000369061.4,ENST00000358487.5,ENST00000369060.4,ENST00000346997.2,ENST00000457416.2,ENST00000351936.6,ENST00000360144.3,ENST00000369056.1,ENST00000369058.3,ENST00000336553.6,ENST00000490349.1,ENST00000359354.2 |
| exon_skip_54485 | 10 | 123298105:123298229:123310803:123310973:123353222:123353343 | 123310803:123310973 | ENSG00000066468.16 | ENST00000356226.4,ENST00000604236.1,ENST00000369059.1 |
| exon_skip_54489 | 10 | 123310803:123310973:123324015:123324093:123353222:123353343 | 123324015:123324093 | ENSG00000066468.16 | ENST00000357555.5,ENST00000360144.3,ENST00000336553.6 |
| exon_skip_54491 | 10 | 123310803:123310973:123353222:123353481:123357475:123357586 | 123353222:123353481 | ENSG00000066468.16 | ENST00000356226.4,ENST00000604236.1,ENST00000369059.1 |
| exon_skip_54495 | 10 | 123324015:123324093:123324951:123325218:123353222:123353343 | 123324951:123325218 | ENSG00000066468.16 | ENST00000369061.4,ENST00000358487.5,ENST00000369060.4,ENST00000346997.2,ENST00000457416.2,ENST00000351936.6,ENST00000369056.1,ENST00000369058.3,ENST00000490349.1,ENST00000359354.2 |
| exon_skip_54498 | 10 | 123324015:123324093:123353222:123353481:123357475:123357586 | 123353222:123353481 | ENSG00000066468.16 | ENST00000360144.3,ENST00000336553.6 |
| exon_skip_54500 | 10 | 123324951:123325218:123353222:123353481:123357475:123357586 | 123353222:123353481 | ENSG00000066468.16 | ENST00000358487.5,ENST00000369060.4,ENST00000457416.2,ENST00000351936.6,ENST00000369058.3,ENST00000490349.1,ENST00000359354.2 |
| 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 FGFR2 |
| 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 |
| ENST00000358487 | 123353222 | 123353481 | 3UTR-3CDS |
| ENST00000358487 | 123243211 | 123243317 | Frame-shift |
| ENST00000358487 | 123276832 | 123276977 | Frame-shift |
| ENST00000358487 | 123310803 | 123310973 | Frame-shift |
| ENST00000358487 | 123258008 | 123258119 | In-frame |
| ENST00000358487 | 123324951 | 123325218 | 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 |
| ENST00000358487 | 123353222 | 123353481 | 3UTR-3CDS |
| ENST00000358487 | 123243211 | 123243317 | Frame-shift |
| ENST00000358487 | 123276832 | 123276977 | Frame-shift |
| ENST00000358487 | 123310803 | 123310973 | Frame-shift |
| ENST00000358487 | 123258008 | 123258119 | In-frame |
| ENST00000358487 | 123324951 | 123325218 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FGFR2 |
| 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 |
| ENST00000358487 | 4272 | 821 | 123324951 | 123325218 | 383 | 649 | 36 | 125 |
| ENST00000358487 | 4272 | 821 | 123258008 | 123258119 | 1835 | 1945 | 520 | 557 |
| 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 |
| ENST00000358487 | 4272 | 821 | 123324951 | 123325218 | 383 | 649 | 36 | 125 |
| ENST00000358487 | 4272 | 821 | 123258008 | 123258119 | 1835 | 1945 | 520 | 557 |
| 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 FGFR2 |
| - 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-A3A1-01 | exon_skip_54465 | 123258009 | 123258119 | 123258052 | 123258052 | Frame_Shift_Del | T | - | p.K543fs |
| COAD | TCGA-AZ-6598-01 | exon_skip_54471 exon_skip_54472 | 123276833 | 123276977 | 123276899 | 123276905 | Frame_Shift_Del | ATTCCCC | - | p.338_340del |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_54476 exon_skip_54478 | 123278196 | 123278343 | 123278272 | 123278272 | Frame_Shift_Del | T | - | p.E337fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_54485 exon_skip_54484 | 123310804 | 123310973 | 123310847 | 123310847 | Frame_Shift_Del | T | - | p.N194fs |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_54461 | 123243212 | 123243317 | 123243222 | 123243223 | Frame_Shift_Ins | - | T | p.T765fs |
| KIRC | TCGA-A3-3378-01 | exon_skip_54485 exon_skip_54484 | 123310804 | 123310973 | 123310878 | 123310879 | Frame_Shift_Ins | - | C | p.P184fs |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-DD-A1EG-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_54478 | |
| Skipped exon start: 123278196 | |
| Skipped exon end: 123278343 | |
| Mutation start: 123278272 | |
| Mutation end: 123278272 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.E337fs | |
exon_skip_103075_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_100809_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_101656_LIHC_TCGA-DD-A1EG-01.png | |
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 | Sample: TCGA-AZ-6598-01 |
| Cancer type: COAD | |
| ESID: exon_skip_54472 | |
| Skipped exon start: 123276833 | |
| Skipped exon end: 123276977 | |
| Mutation start: 123276899 | |
| Mutation end: 123276905 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: ATTCCCC | |
| Mutation seq: - | |
| AAchange: p.338_340del | |
exon_skip_11218_COAD_TCGA-AZ-6598-01.png | |
exon_skip_11256_COAD_TCGA-AZ-6598-01.png | |
exon_skip_11259_COAD_TCGA-AZ-6598-01.png | |
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exon_skip_434375_COAD_TCGA-AZ-6598-01.png | |
exon_skip_434763_COAD_TCGA-AZ-6598-01.png | |
exon_skip_439048_COAD_TCGA-AZ-6598-01.png | |
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exon_skip_54471_COAD_TCGA-AZ-6598-01.png | |
exon_skip_54472_COAD_TCGA-AZ-6598-01.png | |
exon_skip_84515_COAD_TCGA-AZ-6598-01.png | |
 | Sample: TCGA-AZ-6598-01 |
| Cancer type: COAD | |
| ESID: exon_skip_54472 | |
| Skipped exon start: 123276833 | |
| Skipped exon end: 123276977 | |
| Mutation start: 123276899 | |
| Mutation end: 123276905 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: ATTCCCC | |
| Mutation seq: - | |
| AAchange: p.338_340del | |
| exon_skip_11218_COAD_TCGA-AZ-6598-01.png | |
| exon_skip_11256_COAD_TCGA-AZ-6598-01.png | |
| exon_skip_11259_COAD_TCGA-AZ-6598-01.png | |
| exon_skip_11263_COAD_TCGA-AZ-6598-01.png | |
| exon_skip_135111_COAD_TCGA-AZ-6598-01.png | |
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| - 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 |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 123324952 | 123325218 | 123325001 | 123325001 | Frame_Shift_Del | G | - | p.A109fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 123324952 | 123325218 | 123324998 | 123324999 | Frame_Shift_Ins | - | G | p.S110fs |
| TE159T_FIBROBLAST | 123243212 | 123243317 | 123243237 | 123243237 | Missense_Mutation | C | T | p.R759Q |
| COLO679_SKIN | 123258009 | 123258119 | 123258012 | 123258012 | Missense_Mutation | C | T | p.D557N |
| MFE296_ENDOMETRIUM | 123258009 | 123258119 | 123258034 | 123258034 | Missense_Mutation | A | C | p.N549K |
| AN3CA_ENDOMETRIUM | 123258009 | 123258119 | 123258034 | 123258034 | Missense_Mutation | A | C | p.N549K |
| OCIM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123274631 | 123274833 | 123274652 | 123274652 | Missense_Mutation | G | C | p.I422M |
| GP2D_LARGE_INTESTINE | 123274631 | 123274833 | 123274654 | 123274654 | Missense_Mutation | T | C | p.I422V |
| GP5D_LARGE_INTESTINE | 123274631 | 123274833 | 123274654 | 123274654 | Missense_Mutation | T | C | p.I422V |
| MSTO211H_PLEURA | 123274631 | 123274833 | 123274710 | 123274710 | Missense_Mutation | G | A | p.T403M |
| RERFLCMS_LUNG | 123274631 | 123274833 | 123274716 | 123274716 | Missense_Mutation | T | C | p.K401R |
| MKN74_STOMACH | 123274631 | 123274833 | 123274722 | 123274722 | Missense_Mutation | C | T | p.R399Q |
| JHUEM2_ENDOMETRIUM | 123274631 | 123274833 | 123274774 | 123274774 | Missense_Mutation | A | G | p.C382R |
| SBC5_LUNG | 123274631 | 123274833 | 123274822 | 123274822 | Missense_Mutation | C | T | p.E366K |
| AU565_BREAST | 123274631 | 123274833 | 123274827 | 123274827 | Missense_Mutation | C | T | p.G364E |
| NCIH1623_LUNG | 123276833 | 123276977 | 123276854 | 123276854 | Missense_Mutation | C | A | p.A355S |
| RKN_SOFT_TISSUE | 123276833 | 123276977 | 123276895 | 123276895 | Missense_Mutation | G | A | p.T341M |
| NCIH23_LUNG | 123276833 | 123276977 | 123276934 | 123276934 | Missense_Mutation | T | G | p.Y328S |
| ESS1_ENDOMETRIUM | 123276833 | 123276977 | 123276974 | 123276974 | Missense_Mutation | C | T | p.A315T |
| AN3CA_ENDOMETRIUM | 123279493 | 123279683 | 123279503 | 123279503 | Missense_Mutation | T | C | p.K310R |
| MFE280_ENDOMETRIUM | 123279493 | 123279683 | 123279677 | 123279677 | Missense_Mutation | G | C | p.S252W |
| MFE319_ENDOMETRIUM | 123279493 | 123279683 | 123279677 | 123279677 | Missense_Mutation | G | C | p.S252W |
| HCC1143_BREAST | 123310804 | 123310973 | 123310821 | 123310821 | Missense_Mutation | G | A | p.R203C |
| SNU1040_LARGE_INTESTINE | 123310804 | 123310973 | 123310869 | 123310869 | Missense_Mutation | G | A | p.P187S |
| SW684_SOFT_TISSUE | 123310804 | 123310973 | 123310896 | 123310896 | Missense_Mutation | G | A | p.R178C |
| C75_LARGE_INTESTINE | 123310804 | 123310973 | 123310901 | 123310901 | Missense_Mutation | T | C | p.K176R |
| MEWO_SKIN | 123310804 | 123310973 | 123310941 | 123310941 | Missense_Mutation | C | T | p.E163K |
| SNU738_CENTRAL_NERVOUS_SYSTEM | 123324016 | 123324093 | 123324032 | 123324032 | Missense_Mutation | C | A | p.E146D |
| SNU283_LARGE_INTESTINE | 123324016 | 123324093 | 123324045 | 123324045 | Missense_Mutation | T | A | p.D142V |
| PACADD137_PANCREAS | 123324016 | 123324093 | 123324079 | 123324079 | Missense_Mutation | C | T | p.G131R |
| SNU899_UPPER_AERODIGESTIVE_TRACT | 123324952 | 123325218 | 123324995 | 123324995 | Missense_Mutation | C | G | p.R111S |
| TTC709_SOFT_TISSUE | 123324952 | 123325218 | 123325035 | 123325035 | Missense_Mutation | G | A | p.T98M |
| CAL12T_LUNG | 123324952 | 123325218 | 123325062 | 123325062 | Missense_Mutation | C | A | p.G89V |
| HS870T_FIBROBLAST | 123324952 | 123325218 | 123325190 | 123325190 | Missense_Mutation | T | G | p.Q46H |
| SKGT2_STOMACH | 123353223 | 123353481 | 123353274 | 123353274 | Missense_Mutation | G | C | p.L20V |
| A498_KIDNEY | 123353223 | 123353481 | 123353307 | 123353307 | Missense_Mutation | A | T | p.C9S |
| COLO792_SKIN | 123353223 | 123353481 | 123353316 | 123353316 | Missense_Mutation | G | A | p.R6C |
| NCIH2023_LUNG | 123258009 | 123258119 | 123258066 | 123258066 | Nonsense_Mutation | T | A | p.K539* |
| 2313287_STOMACH | 123279493 | 123279683 | 123279681 | 123279681 | Nonsense_Mutation | G | A | p.R251* |
| SNU1040_LARGE_INTESTINE | 123274631 | 123274833 | 123274832 | 123274832 | Splice_Site | C | T | p.A362A |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FGFR2 |
| 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 FGFR2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FGFR2 |
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RelatedDrugs for FGFR2 |
| 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 |
| P21802 | DB00039 | Palifermin | Fibroblast growth factor receptor 2 | biotech | approved | |
| P21802 | DB08896 | Regorafenib | Fibroblast growth factor receptor 2 | small molecule | approved | |
| P21802 | DB09079 | Nintedanib | Fibroblast growth factor receptor 2 | small molecule | approved | |
| P21802 | DB01109 | Heparin | Fibroblast growth factor receptor 2 | small molecule | approved|investigational | |
| P21802 | DB08901 | Ponatinib | Fibroblast growth factor receptor 2 | small molecule | approved|investigational | |
| P21802 | DB09078 | Lenvatinib | Fibroblast growth factor receptor 2 | small molecule | approved|investigational | |
| P21802 | DB12010 | Fostamatinib | Fibroblast growth factor receptor 2 | small molecule | approved|investigational | |
| P21802 | DB01041 | Thalidomide | Fibroblast growth factor receptor 2 | small molecule | approved|investigational|withdrawn |
Top |
RelatedDiseases for FGFR2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| FGFR2 | C2931196 | Craniofacial dysostosis type 1 | 21 | ORPHANET;UNIPROT |
| FGFR2 | C0220658 | Pfeiffer Syndrome | 10 | UNIPROT |
| FGFR2 | C0001193 | Apert syndrome | 8 | ORPHANET;UNIPROT |
| FGFR2 | C1510455 | Acrocephalosyndactylia | 4 | CTD_human |
| FGFR2 | C0010278 | Craniosynostosis | 3 | CTD_human;HPO |
| FGFR2 | C0036341 | Schizophrenia | 3 | PSYGENET |
| FGFR2 | C0376634 | Craniofacial Abnormalities | 3 | CTD_human |
| FGFR2 | C1458155 | Mammary Neoplasms | 3 | CTD_human |
| FGFR2 | C0011570 | Mental Depression | 2 | PSYGENET |
| FGFR2 | C0011581 | Depressive disorder | 2 | PSYGENET |
| FGFR2 | C0038356 | Stomach Neoplasms | 2 | CTD_human |
| FGFR2 | C1865070 | SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION | 2 | CTD_human;ORPHANET;UNIPROT |
| FGFR2 | C0003090 | Ankylosis | 1 | CTD_human |
| FGFR2 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| FGFR2 | C0008924 | Cleft Lip | 1 | CTD_human |
| FGFR2 | C0008925 | Cleft Palate | 1 | CTD_human;HPO |
| FGFR2 | C0010273 | Craniofacial Dysostosis | 1 | CTD_human;HPO |
| FGFR2 | C0014170 | Endometrial Neoplasms | 1 | CTD_human |
| FGFR2 | C0018553 | Hamartoma Syndrome, Multiple | 1 | CTD_human |
| FGFR2 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
| FGFR2 | C0024121 | Lung Neoplasms | 1 | CTD_human |
| FGFR2 | C0026613 | Motor Skills Disorders | 1 | CTD_human |
| FGFR2 | C0033975 | Psychotic Disorders | 1 | PSYGENET |
| FGFR2 | C0037268 | Skin Abnormalities | 1 | CTD_human |
| FGFR2 | C0037274 | Dermatologic disorders | 1 | CTD_human |
| FGFR2 | C0040427 | Tooth Abnormalities | 1 | CTD_human |
| FGFR2 | C0080178 | Spina Bifida | 1 | CTD_human |
| FGFR2 | C0206698 | Cholangiocarcinoma | 1 | CTD_human |
| FGFR2 | C0206762 | Limb Deformities, Congenital | 1 | CTD_human |
| FGFR2 | C0265269 | Lacrimoauriculodentodigital syndrome | 1 | CTD_human;ORPHANET;UNIPROT |
| FGFR2 | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
| FGFR2 | C1450010 | Plagiocephaly, Nonsynostotic | 1 | CTD_human;HPO |
| FGFR2 | C1852406 | Cutis Gyrata Syndrome of Beare And Stevenson | 1 | CTD_human;ORPHANET;UNIPROT |
| FGFR2 | C2350233 | Antley-Bixler Syndrome Phenotype | 1 | CTD_human |
| FGFR2 | C3281247 | BENT BONE DYSPLASIA SYNDROME | 1 | ORPHANET;UNIPROT |
| FGFR2 | C3714756 | Intellectual Disability | 1 | CTD_human;HPO |
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