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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:FRG1-RABGEF1 (FusionGDB2 ID:HG2483TG27342) |
Fusion Gene Summary for FRG1-RABGEF1 |
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Fusion gene information | Fusion gene name: FRG1-RABGEF1 | Fusion gene ID: hg2483tg27342 | Hgene | Tgene | Gene symbol | FRG1 | RABGEF1 | Gene ID | 2483 | 27342 |
Gene name | FSHD region gene 1 | RAB guanine nucleotide exchange factor 1 | |
Synonyms | FRG1A|FSG1 | RABEX5|RAP1|rabex-5 | |
Cytomap | ('FRG1')('RABGEF1') 4q35.2 | 7q11.21 | |
Type of gene | protein-coding | protein-coding | |
Description | protein FRG1FSHD region gene 1 proteinfacioscapulohumeral muscular dystrophy region gene-1 | rab5 GDP/GTP exchange factorRAB guanine nucleotide exchange factor (GEF) 1rabaptin-5-associated exchange factor for Rab5 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | Q14331 | . | |
Ensembl transtripts involved in fusion gene | ENST00000514482, ENST00000226798, | ||
Fusion gene scores | * DoF score | 4 X 4 X 4=64 | 7 X 7 X 5=245 |
# samples | 4 | 7 | |
** MAII score | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/245*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: FRG1 [Title/Abstract] AND RABGEF1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | FRG1(190864427)-RABGEF1(66273872), # samples:2 | ||
Anticipated loss of major functional domain due to fusion event. | FRG1-RABGEF1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. FRG1-RABGEF1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. FRG1-RABGEF1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. FRG1-RABGEF1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. |
* 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 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * 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 | OV | TCGA-24-2026 | FRG1 | chr4 | 190864427 | + | RABGEF1 | chr7 | 66273872 | + |
ChimerDB4 | UCEC | TCGA-B5-A11J | FRG1 | chr4 | 190864427 | + | RABGEF1 | chr7 | 66273872 | + |
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Fusion Gene ORF analysis for FRG1-RABGEF1 |
![]() * 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 |
3UTR-3CDS | ENST00000514482 | ENST00000284957 | FRG1 | chr4 | 190864427 | + | RABGEF1 | chr7 | 66273872 | + |
3UTR-3CDS | ENST00000514482 | ENST00000437078 | FRG1 | chr4 | 190864427 | + | RABGEF1 | chr7 | 66273872 | + |
3UTR-3CDS | ENST00000514482 | ENST00000439720 | FRG1 | chr4 | 190864427 | + | RABGEF1 | chr7 | 66273872 | + |
3UTR-3CDS | ENST00000514482 | ENST00000450873 | FRG1 | chr4 | 190864427 | + | RABGEF1 | chr7 | 66273872 | + |
3UTR-3UTR | ENST00000514482 | ENST00000484547 | FRG1 | chr4 | 190864427 | + | RABGEF1 | chr7 | 66273872 | + |
5CDS-3UTR | ENST00000226798 | ENST00000484547 | FRG1 | chr4 | 190864427 | + | RABGEF1 | chr7 | 66273872 | + |
Frame-shift | ENST00000226798 | ENST00000437078 | FRG1 | chr4 | 190864427 | + | RABGEF1 | chr7 | 66273872 | + |
Frame-shift | ENST00000226798 | ENST00000439720 | FRG1 | chr4 | 190864427 | + | RABGEF1 | chr7 | 66273872 | + |
In-frame | ENST00000226798 | ENST00000284957 | FRG1 | chr4 | 190864427 | + | RABGEF1 | chr7 | 66273872 | + |
In-frame | ENST00000226798 | ENST00000450873 | FRG1 | chr4 | 190864427 | + | RABGEF1 | chr7 | 66273872 | + |
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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) |
ENST00000226798 | FRG1 | chr4 | 190864427 | + | ENST00000450873 | RABGEF1 | chr7 | 66273872 | + | 1287 | 355 | 328 | 753 | 141 |
ENST00000226798 | FRG1 | chr4 | 190864427 | + | ENST00000284957 | RABGEF1 | chr7 | 66273872 | + | 2934 | 355 | 328 | 753 | 141 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000226798 | ENST00000450873 | FRG1 | chr4 | 190864427 | + | RABGEF1 | chr7 | 66273872 | + | 0.004853476 | 0.9951466 |
ENST00000226798 | ENST00000284957 | FRG1 | chr4 | 190864427 | + | RABGEF1 | chr7 | 66273872 | + | 0.003425044 | 0.99657494 |
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Fusion Genomic Features for FRG1-RABGEF1 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
FRG1 | chr4 | 190864427 | + | RABGEF1 | chr7 | 66273872 | + | 0.00027527 | 0.9997247 |
FRG1 | chr4 | 190864427 | + | RABGEF1 | chr7 | 66273872 | + | 0.00027527 | 0.9997247 |
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Fusion Protein Features for FRG1-RABGEF1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr4:190864427/chr7:66273872) - 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 |
FRG1 | . |
FUNCTION: Binds to mRNA in a sequence-independent manner. May play a role in regulation of pre-mRNA splicing or in the assembly of rRNA into ribosomal subunits. May be involved in mRNA transport. May be involved in epigenetic regulation of muscle differentiation through regulation of activity of the histone-lysine N-methyltransferase KMT5B. {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:15060122, ECO:0000269|PubMed:20970242, ECO:0000269|PubMed:21699900, ECO:0000269|PubMed:23720823}. | 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 |
Hgene | FRG1 | chr4:190864427 | chr7:66273872 | ENST00000226798 | + | 2 | 9 | 8_32 | 44 | 259.0 | Compositional bias | Note=Lys-rich |
Hgene | FRG1 | chr4:190864427 | chr7:66273872 | ENST00000226798 | + | 2 | 9 | 22_32 | 44 | 259.0 | Motif | Nuclear localization signal |
- 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 |
Hgene | FRG1 | chr4:190864427 | chr7:66273872 | ENST00000226798 | + | 2 | 9 | 235_251 | 44 | 259.0 | Motif | Bipartite nuclear localization signal |
Tgene | RABGEF1 | chr4:190864427 | chr7:66273872 | ENST00000284957 | 7 | 9 | 232_375 | 359 | 492.0 | Domain | VPS9 | |
Tgene | RABGEF1 | chr4:190864427 | chr7:66273872 | ENST00000450873 | 8 | 10 | 232_375 | 359 | 492.0 | Domain | VPS9 | |
Tgene | RABGEF1 | chr4:190864427 | chr7:66273872 | ENST00000284957 | 7 | 9 | 13_47 | 359 | 492.0 | Zinc finger | A20-type | |
Tgene | RABGEF1 | chr4:190864427 | chr7:66273872 | ENST00000450873 | 8 | 10 | 13_47 | 359 | 492.0 | Zinc finger | A20-type |
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Fusion Gene Sequence for FRG1-RABGEF1 |
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>31307_31307_1_FRG1-RABGEF1_FRG1_chr4_190864427_ENST00000226798_RABGEF1_chr7_66273872_ENST00000284957_length(transcript)=2934nt_BP=355nt GGCCCTCTGCGGCCGCCGTAGCTCCCCGGCAGAAACCCGGAAGTGGAACTCTGAGCCATTCAGCGTTTGGGTGAAGACGGAGGCGGGTTC TACAGAGACGTAGGCTGTCAGGGAGTGTTTATTTCGCGTCCGCTTCTGTTTCTCCGCGCCCCTGTGCTGCCCCGACTCACATACTCGTCC AGAACCGGCCTCAGCCTCTCCGCGCAGAAGTTTCCCGGAGCCATGGCCGAGTACTCCTACGTGAAGTCTACCAAGCTCGTGCTCAAGGGA ACCAAGACGAAGAGTAAGAAGAAAAAGAGCAAAGATAAGAAAAGAAAAAGAGAAGAAGATGAAGAAACCCAGCTTGATATTGTTGTGCTG TGCTGTGGCTTTCATTGAGAAGCTAGACGCCCAGTCTTTGAATCTAAGTCAGGAGGATTTTGATCGCTACATGTCTGGCCAGACCTCTCC CAGGAAGCAAGAAGCTGAGAGTTGGTCTCCTGATGCTTGCTTAGGCGTCAAGCAAATGTATAAGAACTTGGATCTCTTGTCTCAGTTGAA TGAACGACAAGAAAGGATCATGAATGAAGCCAAGAAACTGGAAAAAGACCTCATAGATTGGACAGATGGAATTGCAAGAGAAGTTCAAGA CATCGTTGAGAAATACCCACTGGAAATTAAGCCTCCGAATCAACCGTTAGCAGCTATTGACTCTGAAAACGTTGAAAATGATAAACTTCC TCCACCACTGCAACCTCAAGTTTATGCAGGATGATCACAATTTAGTGGAGAGTATTTATTTGAGCCTAAATTGTAGGTAGCCCTTACTAC ACTCAACTGATTGGGATCTAGAATGTAACTAAATTGCTTATAAATGTCAGCATTTTTTAAAGGTACAGTATATGGGGATTGTTTCGTTTT TCCTAGCAGGGGAACCTTAGTTAATAATAAAATACTACTTATTTGAGTTACTGATACAGATTCATTTAAGGCTTGTGTGCAAATTTTGTC TCAATCTTTTTTCCCTCCATGATTTTCCTATGTGCTTCCTCTGGCATTCACTGTGGTTTTGGTAAATAATTGCCTTTTAAAGGATTAAAC AAATGAATGCTACAAAGTGTATGTTCAAGAAAATTAAATGGTACCACTCTTCCACAGTTTGGAATAATTTTATAATTGTAAAGATAGAAA TTATATTGATAAGTAAATATGTAAAATTGTAAATATGTAAAAAAAAGAATGGTGTCTGCTGTGCATGGCATTTTATATGTTAATTTTTTA GTTTAAAATGAAGTATATTGAATGTTTGCCTTTAGCACCATTTTATTTGGTTTGTCCCACTAAAATGACTCGAGAAGTGTTTAGACAAAC TCCCCTTAAGATGTGCACTCCATCTTTAAGAACGTGTTAGCCTTAACTTTGAGGTTCTATATAGTCAGAGACTATGACACCACTAAGGTT CAGAATAAAGTTTAGGCCACATAAAATTGCTGTTTAATGTAGTCGATGGAAGACTTTAAACTATGCTTCTAGCTTATTTTTCCCTCATTC ATTCAGCAAATCTCTATTGAGTTCTTCAGTGAGAAGGAGCAGGCACTGGGCCTGGAATGGAAGGCGGGAATGAATGGGCCTCTGATGGTG AGAGGTGACGGGGTCCCTCAGCTGTGAGATGCAAGGGGCGCCTTGCAGCCTCCATAATATACATTTGACTTTGCAAACGTCTAGACATGT TTTCTGAACCTTTTTCAGGACATTTCAACCTCGGGACTATTCATATTAGTGGCCTGAGAGGTGTTTGTTGTGGGGCCACCCTGTGCATGG TAGAATGTTCAGCAGCATTCCTGCCATCCATATCCATTAGGTGCCAGTAGCACCCCCGCTAGAGCTGTGAAAAATTCTCTCCAGACATAG TCAGATGTCTCCTGGGGCCATATCACCCCTCCGTTAAGAACCACTGATGTCTTTTACAAACCAGGAGTTATCCTCCTGGTGGTTAATATG GTGTAACCAAAGAATCTTGCACTCAATGCACAGTGTGATGTTAACTAAAACGAGTTAAATATTTAGGAGGCTTGACAGCTACCTGCATTG TAGAACCTTTTCTTATCTCAGTGGAACCTTCTATAACCTAAATATACCATTGATGATTCTTCTTCCATTCAGTGACATCCACAGATTATG CAGCTATACTTGTGAAATCGTGCATGAGGCCCCAGGGCACCGTTCTAGAACAACGTCACTTCACACAGGCAGCTGAGAAAGGTTCTCTTG CTTTTCCAGTATCTTCCTAAGGATGGAGCCCAAAATTGCAGAGCAGTAACTTTGGAATAAAACCAGGGTGGGTATAAAACTTCTTATTCT TAAATTTACATATAAGATCTATTAAGCTTGACACATCTGTGTCATCACGCACTGAAGACAGGAAGCAGTTCACTGAGTCAGCTGGTTCCC AAGCTCGCACAGAAGGTGATAAGTTACTATCAAATGCCAGTGAGAATCTTCTTATAGAATAACCTGGGCCCAAGTGATTTTAGTACAAAA CTTGCCCTTCTTTGGTTTAATTTTCTATGTGCTTTTAGGTGTGAATCCAGATATGCGGTCTTAATTCCTTTGGAAATACACAGTTCGTTT AGTTACTGTACACTCTGTTTGTTCAATAAACTGCATATCAACTTCCCACAAAAGCTGACTTTTTTGGGTCTCTTACATATAAAGTAGGTT ATTGAGTTGATTTTTTTGGAGGTATCTCATATTGGTCGAATTCTTCTGGTATGGACTCTTGCCTTATATAGAGGCTTCTATTTCTCTTAA GTCAGCATCAATACAACGGCCGGAGTTTCTGTTTTTGCAATAAGAAGATGTTGGTATTTTATGTAGGGTAAATGTGACTGGAATACACCT TTGGAACGGAATTCTTTATCAATAAAGTTTCACAATCCGTCCCTCTTCCAAAAA >31307_31307_1_FRG1-RABGEF1_FRG1_chr4_190864427_ENST00000226798_RABGEF1_chr7_66273872_ENST00000284957_length(amino acids)=141AA_BP=5 MKKPSLILLCCAVAFIEKLDAQSLNLSQEDFDRYMSGQTSPRKQEAESWSPDACLGVKQMYKNLDLLSQLNERQERIMNEAKKLEKDLID WTDGIAREVQDIVEKYPLEIKPPNQPLAAIDSENVENDKLPPPLQPQVYAG -------------------------------------------------------------- >31307_31307_2_FRG1-RABGEF1_FRG1_chr4_190864427_ENST00000226798_RABGEF1_chr7_66273872_ENST00000450873_length(transcript)=1287nt_BP=355nt GGCCCTCTGCGGCCGCCGTAGCTCCCCGGCAGAAACCCGGAAGTGGAACTCTGAGCCATTCAGCGTTTGGGTGAAGACGGAGGCGGGTTC TACAGAGACGTAGGCTGTCAGGGAGTGTTTATTTCGCGTCCGCTTCTGTTTCTCCGCGCCCCTGTGCTGCCCCGACTCACATACTCGTCC AGAACCGGCCTCAGCCTCTCCGCGCAGAAGTTTCCCGGAGCCATGGCCGAGTACTCCTACGTGAAGTCTACCAAGCTCGTGCTCAAGGGA ACCAAGACGAAGAGTAAGAAGAAAAAGAGCAAAGATAAGAAAAGAAAAAGAGAAGAAGATGAAGAAACCCAGCTTGATATTGTTGTGCTG TGCTGTGGCTTTCATTGAGAAGCTAGACGCCCAGTCTTTGAATCTAAGTCAGGAGGATTTTGATCGCTACATGTCTGGCCAGACCTCTCC CAGGAAGCAAGAAGCTGAGAGTTGGTCTCCTGATGCTTGCTTAGGCGTCAAGCAAATGTATAAGAACTTGGATCTCTTGTCTCAGTTGAA TGAACGACAAGAAAGGATCATGAATGAAGCCAAGAAACTGGAAAAAGACCTCATAGATTGGACAGATGGAATTGCAAGAGAAGTTCAAGA CATCGTTGAGAAATACCCACTGGAAATTAAGCCTCCGAATCAACCGTTAGCAGCTATTGACTCTGAAAACGTTGAAAATGATAAACTTCC TCCACCACTGCAACCTCAAGTTTATGCAGGATGATCACAATTTAGTGGAGAGTATTTATTTGAGCCTAAATTGTAGGTAGCCCTTACTAC ACTCAACTGATTGGGATCTAGAATGTAACTAAATTGCTTATAAATGTCAGCATTTTTTAAAGGTACAGTATATGGGGATTGTTTCGTTTT TCCTAGCAGGGGAACCTTAGTTAATAATAAAATACTACTTATTTGAGTTACTGATACAGATTCATTTAAGGCTTGTGTGCAAATTTTGTC TCAATCTTTTTTCCCTCCATGATTTTCCTATGTGCTTCCTCTGGCATTCACTGTGGTTTTGGTAAATAATTGCCTTTTAAAGGATTAAAC AAATGAATGCTACAAAGTGTATGTTCAAGAAAATTAAATGGTACCACTCTTCCACAGTTTGGAATAATTTTATAATTGTAAAGATAGAAA TTATATTGATAAGTAAATATGTAAAATTGTAAATATGTAAAAAAAAGAATGGTGTCTGCTGTGCATGGCATTTTATATGTTAATTTTTTA GTTTAAAATGAAGTATATTGAATGTTT >31307_31307_2_FRG1-RABGEF1_FRG1_chr4_190864427_ENST00000226798_RABGEF1_chr7_66273872_ENST00000450873_length(amino acids)=141AA_BP=5 MKKPSLILLCCAVAFIEKLDAQSLNLSQEDFDRYMSGQTSPRKQEAESWSPDACLGVKQMYKNLDLLSQLNERQERIMNEAKKLEKDLID WTDGIAREVQDIVEKYPLEIKPPNQPLAAIDSENVENDKLPPPLQPQVYAG -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for FRG1-RABGEF1 |
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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 |
Tgene | RABGEF1 | chr4:190864427 | chr7:66273872 | ENST00000284957 | 7 | 9 | 1_74 | 359.0 | 492.0 | ubiquitinated proteins | |
Tgene | RABGEF1 | chr4:190864427 | chr7:66273872 | ENST00000450873 | 8 | 10 | 1_74 | 359.0 | 492.0 | ubiquitinated proteins |
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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 FRG1-RABGEF1 |
![]() (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 FRG1-RABGEF1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | FRG1 | C0238288 | Muscular Dystrophy, Facioscapulohumeral | 3 | ORPHANET |