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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:FGF1-RAP1B (FusionGDB2 ID:HG2246TG5908) |
Fusion Gene Summary for FGF1-RAP1B |
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Fusion gene information | Fusion gene name: FGF1-RAP1B | Fusion gene ID: hg2246tg5908 | Hgene | Tgene | Gene symbol | FGF1 | RAP1B | Gene ID | 2246 | 5908 |
Gene name | fibroblast growth factor 1 | RAP1B, member of RAS oncogene family | |
Synonyms | AFGF|ECGF|ECGF-beta|ECGFA|ECGFB|FGF-1|FGF-alpha|FGFA|GLIO703|HBGF-1|HBGF1 | K-REV|RAL1B | |
Cytomap | ('FGF1')('RAP1B') 5q31.3 | 12q15 | |
Type of gene | protein-coding | protein-coding | |
Description | fibroblast growth factor 1beta-endothelial cell growth factorendothelial cell growth factor, alphaendothelial cell growth factor, betafibroblast growth factor 1 (acidic)heparin-binding growth factor 1 | ras-related protein Rap-1bGTP-binding protein smg p21BRAS-related protein RAP1BRas family small GTP binding protein RAP1Bsmall GTP binding protein | |
Modification date | 20200327 | 20200313 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000337706, ENST00000360966, ENST00000359370, ENST00000378046, ENST00000407758, ENST00000419524, ENST00000494579, | ||
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 16 X 11 X 8=1408 |
# samples | 2 | 16 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(16/1408*10)=-3.13750352374993 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: FGF1 [Title/Abstract] AND RAP1B [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | FGF1(142065522)-RAP1B(69047892), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | FGF1 | GO:0008543 | fibroblast growth factor receptor signaling pathway | 20145243 |
Hgene | FGF1 | GO:0030335 | positive regulation of cell migration | 20145243 |
Hgene | FGF1 | GO:0034605 | cellular response to heat | 12746488 |
Hgene | FGF1 | GO:0042060 | wound healing | 16756958 |
Hgene | FGF1 | GO:0043406 | positive regulation of MAP kinase activity | 16756958 |
Hgene | FGF1 | GO:0045542 | positive regulation of cholesterol biosynthetic process | 19229075 |
Hgene | FGF1 | GO:0045766 | positive regulation of angiogenesis | 20145243 |
Hgene | FGF1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 19229075 |
Hgene | FGF1 | GO:0051781 | positive regulation of cell division | 20145243 |
Hgene | FGF1 | GO:0060681 | branch elongation involved in ureteric bud branching | 11731227 |
Hgene | FGF1 | GO:0072163 | mesonephric epithelium development | 11731227 |
Hgene | FGF1 | GO:1902533 | positive regulation of intracellular signal transduction | 19229075 |
Hgene | FGF1 | GO:2000544 | regulation of endothelial cell chemotaxis to fibroblast growth factor | 16756958 |
Tgene | RAP1B | GO:0071320 | cellular response to cAMP | 21840392 |
![]() * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | GBM | TCGA-14-1402-02A | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
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Fusion Gene ORF analysis for FGF1-RAP1B |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5UTR-3CDS | ENST00000337706 | ENST00000250559 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
5UTR-3CDS | ENST00000337706 | ENST00000341355 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
5UTR-3CDS | ENST00000337706 | ENST00000393436 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
5UTR-3CDS | ENST00000337706 | ENST00000537460 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
5UTR-3CDS | ENST00000360966 | ENST00000250559 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
5UTR-3CDS | ENST00000360966 | ENST00000341355 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
5UTR-3CDS | ENST00000360966 | ENST00000393436 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
5UTR-3CDS | ENST00000360966 | ENST00000537460 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
5UTR-3UTR | ENST00000337706 | ENST00000450214 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
5UTR-3UTR | ENST00000337706 | ENST00000463493 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
5UTR-3UTR | ENST00000360966 | ENST00000450214 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
5UTR-3UTR | ENST00000360966 | ENST00000463493 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
5UTR-5UTR | ENST00000337706 | ENST00000378985 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
5UTR-5UTR | ENST00000337706 | ENST00000539091 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
5UTR-5UTR | ENST00000337706 | ENST00000540209 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
5UTR-5UTR | ENST00000337706 | ENST00000543393 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
5UTR-5UTR | ENST00000360966 | ENST00000378985 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
5UTR-5UTR | ENST00000360966 | ENST00000539091 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
5UTR-5UTR | ENST00000360966 | ENST00000540209 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
5UTR-5UTR | ENST00000360966 | ENST00000543393 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
5UTR-intron | ENST00000337706 | ENST00000541216 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
5UTR-intron | ENST00000337706 | ENST00000542145 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
5UTR-intron | ENST00000337706 | ENST00000543697 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
5UTR-intron | ENST00000360966 | ENST00000541216 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
5UTR-intron | ENST00000360966 | ENST00000542145 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
5UTR-intron | ENST00000360966 | ENST00000543697 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-3CDS | ENST00000359370 | ENST00000250559 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-3CDS | ENST00000359370 | ENST00000341355 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-3CDS | ENST00000359370 | ENST00000393436 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-3CDS | ENST00000359370 | ENST00000537460 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-3CDS | ENST00000378046 | ENST00000250559 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-3CDS | ENST00000378046 | ENST00000341355 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-3CDS | ENST00000378046 | ENST00000393436 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-3CDS | ENST00000378046 | ENST00000537460 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-3CDS | ENST00000407758 | ENST00000250559 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-3CDS | ENST00000407758 | ENST00000341355 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-3CDS | ENST00000407758 | ENST00000393436 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-3CDS | ENST00000407758 | ENST00000537460 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-3CDS | ENST00000419524 | ENST00000250559 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-3CDS | ENST00000419524 | ENST00000341355 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-3CDS | ENST00000419524 | ENST00000393436 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-3CDS | ENST00000419524 | ENST00000537460 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-3CDS | ENST00000494579 | ENST00000250559 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-3CDS | ENST00000494579 | ENST00000341355 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-3CDS | ENST00000494579 | ENST00000393436 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-3CDS | ENST00000494579 | ENST00000537460 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-3UTR | ENST00000359370 | ENST00000450214 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-3UTR | ENST00000359370 | ENST00000463493 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-3UTR | ENST00000378046 | ENST00000450214 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-3UTR | ENST00000378046 | ENST00000463493 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-3UTR | ENST00000407758 | ENST00000450214 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-3UTR | ENST00000407758 | ENST00000463493 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-3UTR | ENST00000419524 | ENST00000450214 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-3UTR | ENST00000419524 | ENST00000463493 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-3UTR | ENST00000494579 | ENST00000450214 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-3UTR | ENST00000494579 | ENST00000463493 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-5UTR | ENST00000359370 | ENST00000378985 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-5UTR | ENST00000359370 | ENST00000539091 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-5UTR | ENST00000359370 | ENST00000540209 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-5UTR | ENST00000359370 | ENST00000543393 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-5UTR | ENST00000378046 | ENST00000378985 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-5UTR | ENST00000378046 | ENST00000539091 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-5UTR | ENST00000378046 | ENST00000540209 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-5UTR | ENST00000378046 | ENST00000543393 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-5UTR | ENST00000407758 | ENST00000378985 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-5UTR | ENST00000407758 | ENST00000539091 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-5UTR | ENST00000407758 | ENST00000540209 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-5UTR | ENST00000407758 | ENST00000543393 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-5UTR | ENST00000419524 | ENST00000378985 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-5UTR | ENST00000419524 | ENST00000539091 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-5UTR | ENST00000419524 | ENST00000540209 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-5UTR | ENST00000419524 | ENST00000543393 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-5UTR | ENST00000494579 | ENST00000378985 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-5UTR | ENST00000494579 | ENST00000539091 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-5UTR | ENST00000494579 | ENST00000540209 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-5UTR | ENST00000494579 | ENST00000543393 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-intron | ENST00000359370 | ENST00000541216 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-intron | ENST00000359370 | ENST00000542145 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-intron | ENST00000359370 | ENST00000543697 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-intron | ENST00000378046 | ENST00000541216 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-intron | ENST00000378046 | ENST00000542145 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-intron | ENST00000378046 | ENST00000543697 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-intron | ENST00000407758 | ENST00000541216 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-intron | ENST00000407758 | ENST00000542145 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-intron | ENST00000407758 | ENST00000543697 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-intron | ENST00000419524 | ENST00000541216 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-intron | ENST00000419524 | ENST00000542145 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-intron | ENST00000419524 | ENST00000543697 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-intron | ENST00000494579 | ENST00000541216 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-intron | ENST00000494579 | ENST00000542145 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
intron-intron | ENST00000494579 | ENST00000543697 | FGF1 | chr5 | 142065522 | - | RAP1B | chr12 | 69047892 | + |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for FGF1-RAP1B |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
FGF1 | chr5 | 142065521 | - | RAP1B | chr12 | 69047891 | + | 0.000176358 | 0.99982363 |
FGF1 | chr5 | 142065521 | - | RAP1B | chr12 | 69047891 | + | 0.000176358 | 0.99982363 |
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Fusion Protein Features for FGF1-RAP1B |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:142065522/:69047892) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
. | . |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
![]() * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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Fusion Gene Sequence for FGF1-RAP1B |
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Fusion Gene PPI Analysis for FGF1-RAP1B |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for FGF1-RAP1B |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for FGF1-RAP1B |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | FGF1 | C0020649 | Hypotension | 1 | CTD_human |
Hgene | FGF1 | C0023418 | leukemia | 1 | CTD_human |
Hgene | FGF1 | C0025500 | Mesothelioma | 1 | CTD_human |
Hgene | FGF1 | C0034069 | Pulmonary Fibrosis | 1 | CTD_human |
Hgene | FGF1 | C0043094 | Weight Gain | 1 | CTD_human |
Hgene | FGF1 | C0151744 | Myocardial Ischemia | 1 | CTD_human |
Hgene | FGF1 | C0919267 | ovarian neoplasm | 1 | CTD_human |
Hgene | FGF1 | C1140680 | Malignant neoplasm of ovary | 1 | CTD_human |
Hgene | FGF1 | C4721507 | Alveolitis, Fibrosing | 1 | CTD_human |
Tgene | C0796004 | Kabuki make-up syndrome | 1 | ORPHANET |