|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for FGFR1 |
 Gene summary |
| Gene information | Gene symbol | FGFR1 | Gene ID | 2260 |
| Gene name | fibroblast growth factor receptor 1 | |
| Synonyms | BFGFR|CD331|CEK|ECCL|FGFBR|FGFR-1|FLG|FLT-2|FLT2|HBGFR|HH2|HRTFDS|KAL2|N-SAM|OGD|bFGF-R-1 | |
| Cytomap | 8p11.23 | |
| Type of gene | protein-coding | |
| Description | fibroblast growth factor receptor 1FGFR1/PLAG1 fusionFMS-like tyrosine kinase 2basic fibroblast growth factor receptor 1fms-related tyrosine kinase 2heparin-binding growth factor receptorhydroxyaryl-protein kinaseproto-oncogene c-Fgr | |
| Modification date | 20180527 | |
| UniProtAcc | P11362 | |
| Context | PubMed: FGFR1 [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 |
| FGFR1 | GO:0008284 | positive regulation of cell proliferation | 8663044 |
| FGFR1 | GO:0008543 | fibroblast growth factor receptor signaling pathway | 8663044 |
| FGFR1 | GO:0010863 | positive regulation of phospholipase C activity | 18480409 |
| FGFR1 | GO:0018108 | peptidyl-tyrosine phosphorylation | 8622701|18480409 |
| FGFR1 | GO:0043406 | positive regulation of MAP kinase activity | 8622701|18480409 |
| FGFR1 | GO:0046777 | protein autophosphorylation | 8622701 |
| FGFR1 | GO:2000546 | positive regulation of endothelial cell chemotaxis to fibroblast growth factor | 21885851 |
Top |
Exon skipping events across known transcript of Ensembl for FGFR1 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. |
 |
Top |
Gene isoform structures and expression levels for FGFR1 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for FGFR1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_489339 | 8 | 38272296:38272419:38273387:38273578:38274823:38274934 | 38273387:38273578 | ENSG00000077782.15 | ENST00000425967.3,ENST00000356207.5,ENST00000397103.1,ENST00000397091.5,ENST00000532791.1,ENST00000326324.6,ENST00000447712.2,ENST00000397108.4,ENST00000527114.1,ENST00000397113.2,ENST00000533619.1,ENST00000341462.5,ENST00000335922.5,ENST00000526570.1 |
| exon_skip_489341 | 8 | 38273510:38273578:38274823:38274934:38275387:38275466 | 38274823:38274934 | ENSG00000077782.15 | ENST00000425967.3,ENST00000356207.5,ENST00000397103.1,ENST00000397091.5,ENST00000532791.1,ENST00000326324.6,ENST00000447712.2,ENST00000397108.4,ENST00000527114.1,ENST00000397113.2,ENST00000487647.1,ENST00000341462.5,ENST00000335922.5,ENST00000526570.1 |
| exon_skip_489345 | 8 | 38277056:38277253:38279314:38279459:38282026:38282139 | 38279314:38279459 | ENSG00000077782.15 | ENST00000425967.3,ENST00000356207.5,ENST00000397091.5,ENST00000532791.1,ENST00000326324.6,ENST00000447712.2,ENST00000397108.4,ENST00000397113.2,ENST00000487647.1,ENST00000335922.5,ENST00000526570.1 |
| exon_skip_489350 | 8 | 38277056:38277253:38280542:38280693:38282026:38282139 | 38280542:38280693 | ENSG00000077782.15 | ENST00000397103.1 |
| exon_skip_489357 | 8 | 38282200:38282217:38283639:38283763:38285438:38285611 | 38283639:38283763 | ENSG00000077782.15 | ENST00000425967.3,ENST00000356207.5,ENST00000397103.1,ENST00000532386.1,ENST00000397091.5,ENST00000532791.1,ENST00000326324.6,ENST00000447712.2,ENST00000397108.4,ENST00000470826.1,ENST00000397113.2,ENST00000487647.1,ENST00000525001.1,ENST00000533668.1,ENS |
| exon_skip_489360 | 8 | 38285529:38285611:38285863:38285953:38287199:38287329 | 38285863:38285953 | ENSG00000077782.15 | ENST00000532386.1,ENST00000532791.1,ENST00000447712.2,ENST00000525001.1,ENST00000335922.5 |
| exon_skip_489361 | 8 | 38285529:38285611:38285863:38285953:38314873:38314964 | 38285863:38285953 | ENSG00000077782.15 | ENST00000356207.5,ENST00000527203.1,ENST00000470826.1,ENST00000529552.1 |
| exon_skip_489362 | 8 | 38285529:38285611:38285869:38285953:38287199:38287329 | 38285869:38285953 | ENSG00000077782.15 | ENST00000425967.3,ENST00000397091.5,ENST00000397108.4,ENST00000397113.2 |
| exon_skip_489363 | 8 | 38285529:38285611:38285869:38285953:38314873:38314964 | 38285869:38285953 | ENSG00000077782.15 | ENST00000397103.1,ENST00000326324.6,ENST00000496296.1,ENST00000526742.1,ENST00000530568.1 |
| exon_skip_489368 | 8 | 38285880:38285953:38286764:38286908:38287199:38287329 | 38286764:38286908 | ENSG00000077782.15 | ENST00000484370.1 |
| exon_skip_489369 | 8 | 38285880:38285953:38286764:38286908:38314873:38314964 | 38286764:38286908 | ENSG00000077782.15 | ENST00000487647.1 |
| exon_skip_489374 | 8 | 38285880:38285953:38287199:38287466:38297823:38297891 | 38287199:38287466 | ENSG00000077782.15 | ENST00000335922.5 |
| exon_skip_489377 | 8 | 38285880:38285953:38287199:38287466:38314873:38314964 | 38287199:38287466 | ENSG00000077782.15 | ENST00000425967.3,ENST00000397091.5,ENST00000532791.1,ENST00000447712.2,ENST00000397108.4,ENST00000397113.2,ENST00000525001.1 |
| exon_skip_489382 | 8 | 38285869:38285953:38314873:38315052:38325189:38325225 | 38314873:38315052 | ENSG00000077782.15 | ENST00000529552.1,ENST00000526742.1 |
| exon_skip_489383 | 8 | 38285880:38285953:38314873:38315052:38325498:38325668 | 38314873:38315052 | ENSG00000077782.15 | ENST00000356207.5,ENST00000326324.6,ENST00000470826.1,ENST00000496296.1 |
| exon_skip_489384 | 8 | 38286833:38286908:38287199:38287466:38314873:38314964 | 38287199:38287466 | ENSG00000077782.15 | ENST00000484370.1 |
| exon_skip_489385 | 8 | 38287237:38287466:38297823:38297891:38314873:38314964 | 38297823:38297891 | ENSG00000077782.15 | ENST00000335922.5 |
| exon_skip_489388 | 8 | 38287237:38287466:38314873:38315052:38325498:38325668 | 38314873:38315052 | ENSG00000077782.15 | ENST00000397090.4,ENST00000532791.1,ENST00000447712.2,ENST00000341462.5 |
| exon_skip_489389 | 8 | 38314959:38315052:38316364:38316487:38324059:38324213 | 38316364:38316487 | ENSG00000077782.15 | ENST00000434187.1 |
| exon_skip_489392 | 8 | 38314959:38315052:38316364:38316502:38325189:38325225 | 38316364:38316502 | ENSG00000077782.15 | ENST00000413133.2 |
| exon_skip_489393 | 8 | 38314959:38315052:38318613:38318773:38325189:38325225 | 38318613:38318773 | ENSG00000077782.15 | ENST00000425967.3,ENST00000397108.4 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for FGFR1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_489339 | 8 | 38272296:38272419:38273387:38273578:38274823:38274934 | 38273387:38273578 | ENSG00000077782.15 | ENST00000397091.5,ENST00000425967.3,ENST00000447712.2,ENST00000341462.5,ENST00000532791.1,ENST00000397113.2,ENST00000356207.5,ENST00000335922.5,ENST00000326324.6,ENST00000526570.1,ENST00000397103.1,ENST00000397108.4,ENST00000533619.1,ENST00000527114.1 |
| exon_skip_489341 | 8 | 38273510:38273578:38274823:38274934:38275387:38275466 | 38274823:38274934 | ENSG00000077782.15 | ENST00000397091.5,ENST00000425967.3,ENST00000447712.2,ENST00000341462.5,ENST00000532791.1,ENST00000397113.2,ENST00000356207.5,ENST00000335922.5,ENST00000326324.6,ENST00000526570.1,ENST00000397103.1,ENST00000397108.4,ENST00000527114.1,ENST00000487647.1 |
| exon_skip_489345 | 8 | 38277056:38277253:38279314:38279459:38282026:38282139 | 38279314:38279459 | ENSG00000077782.15 | ENST00000397091.5,ENST00000425967.3,ENST00000447712.2,ENST00000532791.1,ENST00000397113.2,ENST00000356207.5,ENST00000335922.5,ENST00000326324.6,ENST00000526570.1,ENST00000397108.4,ENST00000487647.1 |
| exon_skip_489350 | 8 | 38277056:38277253:38280542:38280693:38282026:38282139 | 38280542:38280693 | ENSG00000077782.15 | ENST00000397103.1 |
| exon_skip_489357 | 8 | 38282200:38282217:38283639:38283763:38285438:38285611 | 38283639:38283763 | ENSG00000077782.15 | ENST00000397091.5,ENST00000425967.3,ENST00000447712.2,ENST00000341462.5,ENST00000532791.1,ENST00000397113.2,ENST00000356207.5,ENST00000335922.5,ENST00000326324.6,ENST00000526570.1,ENST00000397103.1,ENST00000397108.4,ENST00000487647.1,ENST00000470826.1,ENS |
| exon_skip_489360 | 8 | 38285529:38285611:38285863:38285953:38287199:38287329 | 38285863:38285953 | ENSG00000077782.15 | ENST00000447712.2,ENST00000532791.1,ENST00000335922.5,ENST00000525001.1,ENST00000532386.1 |
| exon_skip_489361 | 8 | 38285529:38285611:38285863:38285953:38314873:38314964 | 38285863:38285953 | ENSG00000077782.15 | ENST00000356207.5,ENST00000470826.1,ENST00000527203.1,ENST00000529552.1 |
| exon_skip_489362 | 8 | 38285529:38285611:38285869:38285953:38287199:38287329 | 38285869:38285953 | ENSG00000077782.15 | ENST00000397091.5,ENST00000425967.3,ENST00000397113.2,ENST00000397108.4 |
| exon_skip_489363 | 8 | 38285529:38285611:38285869:38285953:38314873:38314964 | 38285869:38285953 | ENSG00000077782.15 | ENST00000326324.6,ENST00000397103.1,ENST00000496296.1,ENST00000526742.1,ENST00000530568.1 |
| exon_skip_489368 | 8 | 38285880:38285953:38286764:38286908:38287199:38287329 | 38286764:38286908 | ENSG00000077782.15 | ENST00000484370.1 |
| exon_skip_489369 | 8 | 38285880:38285953:38286764:38286908:38314873:38314964 | 38286764:38286908 | ENSG00000077782.15 | ENST00000487647.1 |
| exon_skip_489374 | 8 | 38285880:38285953:38287199:38287466:38297823:38297891 | 38287199:38287466 | ENSG00000077782.15 | ENST00000335922.5 |
| exon_skip_489377 | 8 | 38285880:38285953:38287199:38287466:38314873:38314964 | 38287199:38287466 | ENSG00000077782.15 | ENST00000397091.5,ENST00000425967.3,ENST00000447712.2,ENST00000532791.1,ENST00000397113.2,ENST00000397108.4,ENST00000525001.1 |
| exon_skip_489382 | 8 | 38285869:38285953:38314873:38315052:38325189:38325225 | 38314873:38315052 | ENSG00000077782.15 | ENST00000526742.1,ENST00000529552.1 |
| exon_skip_489383 | 8 | 38285880:38285953:38314873:38315052:38325498:38325668 | 38314873:38315052 | ENSG00000077782.15 | ENST00000356207.5,ENST00000326324.6,ENST00000470826.1,ENST00000496296.1 |
| exon_skip_489384 | 8 | 38286833:38286908:38287199:38287466:38314873:38314964 | 38287199:38287466 | ENSG00000077782.15 | ENST00000484370.1 |
| exon_skip_489385 | 8 | 38287237:38287466:38297823:38297891:38314873:38314964 | 38297823:38297891 | ENSG00000077782.15 | ENST00000335922.5 |
| exon_skip_489388 | 8 | 38287237:38287466:38314873:38315052:38325498:38325668 | 38314873:38315052 | ENSG00000077782.15 | ENST00000447712.2,ENST00000341462.5,ENST00000532791.1,ENST00000397090.4 |
| exon_skip_489389 | 8 | 38314959:38315052:38316364:38316487:38324059:38324213 | 38316364:38316487 | ENSG00000077782.15 | ENST00000434187.1 |
| exon_skip_489392 | 8 | 38314959:38315052:38316364:38316502:38325189:38325225 | 38316364:38316502 | ENSG00000077782.15 | ENST00000413133.2 |
| exon_skip_489393 | 8 | 38314959:38315052:38318613:38318773:38325189:38325225 | 38318613:38318773 | ENSG00000077782.15 | ENST00000425967.3,ENST00000397108.4 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for FGFR1 |
| 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 |
| ENST00000447712 | 38314873 | 38315052 | 3UTR-3CDS |
| ENST00000447712 | 38273387 | 38273578 | Frame-shift |
| ENST00000447712 | 38279314 | 38279459 | Frame-shift |
| ENST00000447712 | 38283639 | 38283763 | Frame-shift |
| ENST00000447712 | 38274823 | 38274934 | In-frame |
| ENST00000447712 | 38285863 | 38285953 | In-frame |
| ENST00000447712 | 38287199 | 38287466 | 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 |
| ENST00000447712 | 38314873 | 38315052 | 3UTR-3CDS |
| ENST00000447712 | 38273387 | 38273578 | Frame-shift |
| ENST00000447712 | 38279314 | 38279459 | Frame-shift |
| ENST00000447712 | 38283639 | 38283763 | Frame-shift |
| ENST00000447712 | 38274823 | 38274934 | In-frame |
| ENST00000447712 | 38285863 | 38285953 | In-frame |
| ENST00000447712 | 38287199 | 38287466 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for FGFR1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000447712 | 5917 | 822 | 38287199 | 38287466 | 1034 | 1300 | 30 | 119 |
| ENST00000447712 | 5917 | 822 | 38285863 | 38285953 | 1301 | 1390 | 119 | 149 |
| ENST00000447712 | 5917 | 822 | 38274823 | 38274934 | 2495 | 2605 | 517 | 554 |
| 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 |
| ENST00000447712 | 5917 | 822 | 38287199 | 38287466 | 1034 | 1300 | 30 | 119 |
| ENST00000447712 | 5917 | 822 | 38285863 | 38285953 | 1301 | 1390 | 119 | 149 |
| ENST00000447712 | 5917 | 822 | 38274823 | 38274934 | 2495 | 2605 | 517 | 554 |
| 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 |
Top |
SNVs in the skipped exons for FGFR1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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-G3-A3CJ-01 | exon_skip_489345 | 38279315 | 38279459 | 38279384 | 38279384 | Frame_Shift_Del | C | - | p.E338fs |
| LIHC | TCGA-G3-A3CJ-01 | 38287200 | 38287466 | 38287240 | 38287240 | Frame_Shift_Del | G | - | p.P106fs | |
| LIHC | TCGA-G3-A3CJ-01 | 38287200 | 38287466 | 38287308 | 38287308 | Frame_Shift_Del | C | - | p.E85fs |
| - 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 |
| COLO792_SKIN | 38273388 | 38273578 | 38273452 | 38273452 | Missense_Mutation | G | A | p.S597F |
| LS180_LARGE_INTESTINE | 38273388 | 38273578 | 38273467 | 38273467 | Missense_Mutation | T | C | p.E592G |
| HRT18_LARGE_INTESTINE | 38273388 | 38273578 | 38273529 | 38273529 | Missense_Mutation | C | A | p.E571D |
| LNCAPCLONEFGC_PROSTATE | 38273388 | 38273578 | 38273542 | 38273542 | Missense_Mutation | C | T | p.G567D |
| ECC12_STOMACH | 38279315 | 38279459 | 38279324 | 38279324 | Missense_Mutation | C | T | p.V358I |
| KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38279315 | 38279459 | 38279354 | 38279354 | Missense_Mutation | C | T | p.G348R |
| HCT116_LARGE_INTESTINE | 38279315 | 38279459 | 38279368 | 38279368 | Missense_Mutation | G | A | p.A343V |
| SNUC4_LARGE_INTESTINE | 38279315 | 38279459 | 38279377 | 38279377 | Missense_Mutation | G | A | p.T340M |
| GP2D_LARGE_INTESTINE | 38279315 | 38279459 | 38279441 | 38279441 | Missense_Mutation | T | C | p.T319A |
| GP5D_LARGE_INTESTINE | 38279315 | 38279459 | 38279441 | 38279441 | Missense_Mutation | T | C | p.T319A |
| NCIH358_LUNG | 38283640 | 38283763 | 38283759 | 38283759 | Missense_Mutation | C | T | p.R209H |
| HCC1395_BREAST | 38285870 | 38285953 | 38285938 | 38285938 | Missense_Mutation | G | A | p.S125L |
| HCC1395_BREAST | 38285864 | 38285953 | 38285938 | 38285938 | Missense_Mutation | G | A | p.S125L |
| KG1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38285870 | 38285953 | 38285941 | 38285941 | Missense_Mutation | G | A | p.S124F |
| KG1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38285864 | 38285953 | 38285941 | 38285941 | Missense_Mutation | G | A | p.S124F |
| LS411N_LARGE_INTESTINE | 38287200 | 38287466 | 38287212 | 38287212 | Missense_Mutation | C | T | p.V116I |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 38287200 | 38287466 | 38287323 | 38287323 | Missense_Mutation | T | C | p.T79A |
| LNCAPCLONEFGC_PROSTATE | 38287200 | 38287466 | 38287325 | 38287325 | Missense_Mutation | C | T | p.R78H |
| HCC1359_LUNG | 38287200 | 38287466 | 38287394 | 38287394 | Missense_Mutation | C | G | p.C55S |
| MRKNU1_BREAST | 38287200 | 38287466 | 38287398 | 38287398 | Missense_Mutation | G | A | p.R54C |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 38287200 | 38287466 | 38287451 | 38287451 | Missense_Mutation | G | A | p.A36V |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38314874 | 38315052 | 38314889 | 38314889 | Missense_Mutation | T | C | p.T26A |
| NCIH630_LARGE_INTESTINE | 38314874 | 38315052 | 38314898 | 38314898 | Missense_Mutation | G | A | p.P23S |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 38287200 | 38287466 | 38287465 | 38287465 | Splice_Site | G | A | p.A31A |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FGFR1 |
| 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 |
| exon_skip_489368 | 8 | 38285880:38285953:38286764:38286908:38287199:38287329 | 38286764:38286908 | ENST00000484370.1 | LGG | rs2304000 | chr8:38286811 | C/G | 5.50e-16 |
| exon_skip_489368 | 8 | 38285880:38285953:38286764:38286908:38287199:38287329 | 38286764:38286908 | ENST00000484370.1 | PCPG | rs2304000 | chr8:38286811 | C/G | 4.81e-09 |
| exon_skip_489368 | 8 | 38285880:38285953:38286764:38286908:38287199:38287329 | 38286764:38286908 | ENST00000484370.1 | SARC | rs2304000 | chr8:38286811 | C/G | 4.38e-06 |
| exon_skip_489369 | 8 | 38285880:38285953:38286764:38286908:38314873:38314964 | 38286764:38286908 | ENST00000487647.1 | LGG | rs2304000 | chr8:38286811 | C/G | 5.50e-16 |
| exon_skip_489369 | 8 | 38285880:38285953:38286764:38286908:38314873:38314964 | 38286764:38286908 | ENST00000487647.1 | PCPG | rs2304000 | chr8:38286811 | C/G | 4.81e-09 |
| exon_skip_489369 | 8 | 38285880:38285953:38286764:38286908:38314873:38314964 | 38286764:38286908 | ENST00000487647.1 | SARC | rs2304000 | chr8:38286811 | C/G | 4.38e-06 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FGFR1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FGFR1 |
Top |
RelatedDrugs for FGFR1 |
| 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 |
| P11362 | DB00039 | Palifermin | Fibroblast growth factor receptor 1 | biotech | approved | |
| P11362 | DB08896 | Regorafenib | Fibroblast growth factor receptor 1 | small molecule | approved | |
| P11362 | DB09079 | Nintedanib | Fibroblast growth factor receptor 1 | small molecule | approved | |
| P11362 | DB00398 | Sorafenib | Fibroblast growth factor receptor 1 | small molecule | approved|investigational | |
| P11362 | DB01109 | Heparin | Fibroblast growth factor receptor 1 | small molecule | approved|investigational | |
| P11362 | DB08901 | Ponatinib | Fibroblast growth factor receptor 1 | small molecule | approved|investigational | |
| P11362 | DB09078 | Lenvatinib | Fibroblast growth factor receptor 1 | small molecule | approved|investigational | |
| P11362 | DB12010 | Fostamatinib | Fibroblast growth factor receptor 1 | small molecule | approved|investigational |
Top |
RelatedDiseases for FGFR1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| FGFR1 | C1563720 | Kallmann Syndrome 2 (disorder) | 14 | ORPHANET;UNIPROT |
| FGFR1 | C0011570 | Mental Depression | 5 | PSYGENET |
| FGFR1 | C0011581 | Depressive disorder | 5 | CTD_human;HPO;PSYGENET |
| FGFR1 | C0005586 | Bipolar Disorder | 3 | PSYGENET |
| FGFR1 | C0041696 | Unipolar Depression | 3 | PSYGENET |
| FGFR1 | C1269683 | Major Depressive Disorder | 3 | PSYGENET |
| FGFR1 | C0027022 | Myeloproliferative disease | 2 | CTD_human |
| FGFR1 | C0220658 | Pfeiffer Syndrome | 2 | UNIPROT |
| FGFR1 | C0406612 | Encephalocraniocutaneous lipomatosis | 2 | ORPHANET;UNIPROT |
| FGFR1 | C0432283 | Osteoglophonic dwarfism | 2 | CTD_human;ORPHANET;UNIPROT |
| FGFR1 | C1458155 | Mammary Neoplasms | 2 | CTD_human |
| FGFR1 | C1845146 | Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate | 2 | ORPHANET;UNIPROT |
| FGFR1 | C0004114 | Astrocytoma | 1 | CTD_human |
| FGFR1 | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| FGFR1 | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| FGFR1 | C0008924 | Cleft Lip | 1 | CTD_human;HPO |
| FGFR1 | C0008925 | Cleft Palate | 1 | CTD_human;HPO |
| FGFR1 | C0017638 | Glioma | 1 | CTD_human |
| FGFR1 | C0024121 | Lung Neoplasms | 1 | CTD_human |
| FGFR1 | C0036341 | Schizophrenia | 1 | CTD_human |
| FGFR1 | C0149925 | Small cell carcinoma of lung | 1 | CTD_human |
| FGFR1 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| FGFR1 | C0432122 | Interfrontal craniofaciosynostosis | 1 | CTD_human;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|