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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:PAPOLA-BTF3 (FusionGDB2 ID:62600)

Fusion Gene Summary for PAPOLA-BTF3

check button Fusion gene summary
Fusion gene informationFusion gene name: PAPOLA-BTF3
Fusion gene ID: 62600
HgeneTgene
Gene symbol

PAPOLA

BTF3

Gene ID

10914

10384

Gene namepoly(A) polymerase alphabutyrophilin subfamily 3 member A3
SynonymsPAP|PAP-alphaBTF3|BTN3.3
Cytomap

14q32.2

6p22.2

Type of geneprotein-codingprotein-coding
Descriptionpoly(A) polymerase alphapolynucleotide adenylyltransferase alphabutyrophilin subfamily 3 member A3butyrophilin 3butyrophilin subfamily 3 member A3 secreted isoform
Modification date2020031320200313
UniProtAcc.

Q96K17

Ensembl transtripts involved in fusion geneENST00000216277, ENST00000392990, 
ENST00000554130, ENST00000557320, 
ENST00000557471, 
ENST00000380591, 
ENST00000514505, ENST00000335895, 
Fusion gene scores* DoF score16 X 13 X 7=14569 X 7 X 6=378
# samples 1911
** MAII scorelog2(19/1456*10)=-2.93793903186775
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/378*10)=-1.78088271069641
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PAPOLA [Title/Abstract] AND BTF3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPAPOLA(97027048)-BTF3(72798312), # 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgenePAPOLA

GO:0006378

mRNA polyadenylation

7590244|19224921

HgenePAPOLA

GO:0031440

regulation of mRNA 3'-end processing

19224921


check buttonFusion gene breakpoints across PAPOLA (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across BTF3 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4OVTCGA-36-1568PAPOLAchr14

97027048

+BTF3chr5

72798312

+


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Fusion Gene ORF analysis for PAPOLA-BTF3

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-3UTRENST00000216277ENST00000380591PAPOLAchr14

97027048

+BTF3chr5

72798312

+
5CDS-3UTRENST00000216277ENST00000514505PAPOLAchr14

97027048

+BTF3chr5

72798312

+
In-frameENST00000216277ENST00000335895PAPOLAchr14

97027048

+BTF3chr5

72798312

+
intron-3CDSENST00000392990ENST00000335895PAPOLAchr14

97027048

+BTF3chr5

72798312

+
intron-3CDSENST00000554130ENST00000335895PAPOLAchr14

97027048

+BTF3chr5

72798312

+
intron-3CDSENST00000557320ENST00000335895PAPOLAchr14

97027048

+BTF3chr5

72798312

+
intron-3CDSENST00000557471ENST00000335895PAPOLAchr14

97027048

+BTF3chr5

72798312

+
intron-3UTRENST00000392990ENST00000380591PAPOLAchr14

97027048

+BTF3chr5

72798312

+
intron-3UTRENST00000392990ENST00000514505PAPOLAchr14

97027048

+BTF3chr5

72798312

+
intron-3UTRENST00000554130ENST00000380591PAPOLAchr14

97027048

+BTF3chr5

72798312

+
intron-3UTRENST00000554130ENST00000514505PAPOLAchr14

97027048

+BTF3chr5

72798312

+
intron-3UTRENST00000557320ENST00000380591PAPOLAchr14

97027048

+BTF3chr5

72798312

+
intron-3UTRENST00000557320ENST00000514505PAPOLAchr14

97027048

+BTF3chr5

72798312

+
intron-3UTRENST00000557471ENST00000380591PAPOLAchr14

97027048

+BTF3chr5

72798312

+
intron-3UTRENST00000557471ENST00000514505PAPOLAchr14

97027048

+BTF3chr5

72798312

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000216277PAPOLAchr1497027048+ENST00000335895BTF3chr572798312+296422871782706842

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000216277ENST00000335895PAPOLAchr1497027048+BTF3chr572798312+0.0011202130.99887973

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Fusion Genomic Features for PAPOLA-BTF3


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
PAPOLAchr1497027048+BTF3chr572798312+2.25E-060.99999774
PAPOLAchr1497027048+BTF3chr572798312+2.25E-060.99999774

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for PAPOLA-BTF3


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr14:97027048/chr5:72798312)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.BTF3

Q96K17

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}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePAPOLAchr14:97027048chr5:72798312ENST00000216277+2022504_507689746.0Compositional biasNote=Poly-Lys
HgenePAPOLAchr14:97027048chr5:72798312ENST00000216277+202253_57689746.0Compositional biasNote=Poly-Glu
HgenePAPOLAchr14:97027048chr5:72798312ENST00000216277+2022490_507689746.0MotifNuclear localization signal 1
HgenePAPOLAchr14:97027048chr5:72798312ENST00000216277+2022650_665689746.0MotifNuclear localization signal 2
HgenePAPOLAchr14:97027048chr5:72798312ENST00000216277+2022100_102689746.0Nucleotide bindingATP
HgenePAPOLAchr14:97027048chr5:72798312ENST00000216277+2022113_115689746.0Nucleotide bindingATP
HgenePAPOLAchr14:97027048chr5:72798312ENST00000216277+2022246_247689746.0Nucleotide bindingATP
HgenePAPOLAchr14:97027048chr5:72798312ENST00000216277+2022508_643689746.0RegionNote=Ser/Thr-rich
TgeneBTF3chr14:97027048chr5:72798312ENST0000033589516185_18823163.0Compositional biasNote=Poly-Asp
TgeneBTF3chr14:97027048chr5:72798312ENST0000038059116185_18867207.0Compositional biasNote=Poly-Asp
TgeneBTF3chr14:97027048chr5:72798312ENST000003358951682_14723163.0DomainNAC-A/B
TgeneBTF3chr14:97027048chr5:72798312ENST000003805911682_14767207.0DomainNAC-A/B

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePAPOLAchr14:97027048chr5:72798312ENST00000557320+19504_5070286.0Compositional biasNote=Poly-Lys
HgenePAPOLAchr14:97027048chr5:72798312ENST00000557320+1953_570286.0Compositional biasNote=Poly-Glu
HgenePAPOLAchr14:97027048chr5:72798312ENST00000557471+17504_5070239.0Compositional biasNote=Poly-Lys
HgenePAPOLAchr14:97027048chr5:72798312ENST00000557471+1753_570239.0Compositional biasNote=Poly-Glu
HgenePAPOLAchr14:97027048chr5:72798312ENST00000557320+19490_5070286.0MotifNuclear localization signal 1
HgenePAPOLAchr14:97027048chr5:72798312ENST00000557320+19650_6650286.0MotifNuclear localization signal 2
HgenePAPOLAchr14:97027048chr5:72798312ENST00000557471+17490_5070239.0MotifNuclear localization signal 1
HgenePAPOLAchr14:97027048chr5:72798312ENST00000557471+17650_6650239.0MotifNuclear localization signal 2
HgenePAPOLAchr14:97027048chr5:72798312ENST00000557320+19100_1020286.0Nucleotide bindingATP
HgenePAPOLAchr14:97027048chr5:72798312ENST00000557320+19113_1150286.0Nucleotide bindingATP
HgenePAPOLAchr14:97027048chr5:72798312ENST00000557320+19246_2470286.0Nucleotide bindingATP
HgenePAPOLAchr14:97027048chr5:72798312ENST00000557471+17100_1020239.0Nucleotide bindingATP
HgenePAPOLAchr14:97027048chr5:72798312ENST00000557471+17113_1150239.0Nucleotide bindingATP
HgenePAPOLAchr14:97027048chr5:72798312ENST00000557471+17246_2470239.0Nucleotide bindingATP
HgenePAPOLAchr14:97027048chr5:72798312ENST00000557320+19508_6430286.0RegionNote=Ser/Thr-rich
HgenePAPOLAchr14:97027048chr5:72798312ENST00000557471+17508_6430239.0RegionNote=Ser/Thr-rich


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Fusion Gene Sequence for PAPOLA-BTF3


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>62600_62600_1_PAPOLA-BTF3_PAPOLA_chr14_97027048_ENST00000216277_BTF3_chr5_72798312_ENST00000335895_length(transcript)=2964nt_BP=2287nt
AGCAGTTCTAGAACGTTGCTGTGGTAGCGCTCGGGCGCCATGTTAGGACGAAGGGGAAGGAGGAGAAGCGCTTAAAGCGGCGGGAGCGGT
GCGGGAGAGGGGTTGGACCCAGGGCTGAGGCAGGCCCCCCCCTCCCTCCCGCCTCAGTGGATCATGCCCAGGGCGGCAGCGGCGGCGGTT
GCGGGGGGGAAGTGACTGGGCGGTGCCGGCGCCGGAGACGATGCCGTTTCCAGTTACAACACAGGGATCACAACAAACACAACCGCCACA
GAAGCACTATGGCATTACTTCTCCTATCAGCTTAGCAGCCCCCAAGGAGACTGACTGCGTACTTACACAGAAACTAATTGAGACATTGAA
ACCCTTTGGGGTTTTTGAAGAGGAAGAGGAACTGCAGCGCAGGATTTTAATTTTGGGAAAACTAAATAACCTGGTAAAAGAGTGGATACG
AGAAATCAGTGAAAGCAAGAATCTTCCACAATCTGTAATTGAAAATGTTGGAGGAAAAATTTTTACATTTGGATCTTACAGATTAGGAGT
GCATACAAAAGGTGCTGATATTGATGCGTTGTGTGTTGCACCAAGACATGTTGATCGAAGTGACTTTTTCACCTCATTCTATGATAAGTT
GAAATTACAGGAAGAAGTAAAAGATTTAAGAGCTGTTGAAGAGGCATTCGTACCAGTTATTAAACTCTGTTTTGATGGGATAGAGATTGA
TATTTTGTTTGCAAGATTAGCACTGCAGACAATTCCTGAAGATTTGGATCTACGAGATGACAGTCTGCTAAAAAATTTAGATATAAGATG
TATAAGAAGTCTTAACGGTTGCAGGGTAACCGATGAAATTTTACATCTAGTACCAAACATTGACAACTTCAGGTTAACTCTGAGAGCTAT
CAAACTATGGGCCAAACGCCACAACATCTATTCCAATATATTAGGTTTCCTCGGTGGTGTTTCCTGGGCTATGCTAGTAGCAAGAACTTG
CCAGCTTTATCCAAATGCAATAGCATCAACTCTTGTACATAAATTTTTCTTGGTATTTTCTAAATGGGAATGGCCAAATCCAGTGCTATT
GAAACAGCCTGAAGAATGCAATCTTAATTTGCCTGTATGGGACCCAAGGGTAAACCCCAGTGATAGGTACCATCTTATGCCTATAATTAC
ACCAGCATACCCACAACAGAACTCCACGTACAATGTGTCCGTTTCAACACGGATGGTCATGGTTGAGGAGTTTAAACAAGGTCTTGCTAT
CACAGATGAAATTTTGCTGAGTAAGGCAGAGTGGTCCAAACTTTTTGAAGCTCCAAACTTCTTTCAAAAGTACAAGCATTATATTGTACT
TCTAGCAAGTGCACCAACAGAAAAACAACGCCTGGAATGGGTGGGCTTGGTGGAATCAAAAATCCGAATCCTGGTTGGAAGCTTGGAGAA
GAATGAATTTATTACACTGGCTCATGTGAATCCCCAGTCATTTCCAGCACCCAAAGAAAATCCCGACAAGGAAGAATTTCGCACGATGTG
GGTGATTGGGTTAGTGTTTAAAAAAACAGAAAACTCTGAAAACCTCAGTGTTGATCTCACCTATGATATTCAGTCTTTCACAGATACAGT
TTATAGGCAAGCAATAAACAGCAAGATGTTTGAGGTGGATATGAAAATTGCTGCAATGCATGTAAAAAGAAAGCAACTCCATCAACTACT
ACCTAATCATGTGCTTCAGAAAAAGAAAAAGCATTCAACAGAAGGTGTCAAATTGACAGCTCTCAATGACAGCAGCCTCGACTTGTCTAT
GGACAGTGATAACAGCATGTCTGTGCCTTCACCTACTAGTGCTACGAAGACCAGTCCATTGAACAGTTCTGGCAGCTCTCAGGGCAGAAA
CAGTCCTGCTCCAGCTGTAACAGCAGCATCTGTGACCAACATACAGGCTACTGAAGTTTCTGTGCCACAAGTAAATTCCAGTGAAAGCTC
AGGGGGTACATCGAGTGAAAGCATTCCTCAAACTGCCACACAACCAGCCATTTCTCCACCACCAAAGCCTACGGTCTCCAGAGTTGTTTC
TTCAACACGTCTGGTAAACCCACCACCTAGATCTTCAGGAAATGCAGCAACTTCAGGAAATGCAGCAACAAAAATACCTACTCCTATAGT
AGGAGTCAAGAGGACATCCTCACCTCATAAAGAAGAGAGTCCCAAGAAAACCAAAACAGAAGAGGATGAAACAAGTGAAGATGCTAACTG
TCTTGCTTTGAGTGGACATGATAAAACAGAAGCAAAGGGAACTGCTCGCAGAAAGAAGAAGGTGGTTCATAGAACAGCCACAGCAGATGA
CAAAAAACTTCAGTTCTCCTTAAAGAAGTTAGGGGTAAACAATATCTCTGGTATTGAAGAGGTGAATATGTTTACAAACCAAGGAACAGT
GATCCACTTTAACAACCCTAAAGTTCAGGCATCTCTGGCAGCGAACACTTTCACCATTACAGGCCATGCTGAGACAAAGCAGCTGACAGA
AATGCTACCCAGCATCTTAAACCAGCTTGGTGCGGATAGTCTGACTAGTTTAAGGAGACTGGCCGAAGCTCTGCCCAAACAATCTGTGGA
TGGAAAAGCACCACTTGCTACTGGAGAGGATGATGATGATGAAGTTCCAGATCTTGTGGAGAATTTTGATGAGGCTTCCAAGAATGAGGC
AAACTGAATTGAGTCAACTTCTGAAGATAAAACCTGAAGAAGTTACTGGGAGCTGCTATTTTATATTATGACTGCTTTTTAAGAAATTTT
TGTTTATGGATCTGATAAAATCTAGATCTCTAATATTTTTAAGCCCAAGCCCCTTGGACACTGCAGCTCTTTTCAGTTTTTGCTTATACA

>62600_62600_1_PAPOLA-BTF3_PAPOLA_chr14_97027048_ENST00000216277_BTF3_chr5_72798312_ENST00000335895_length(amino acids)=842AA_BP=703
MRGGSDWAVPAPETMPFPVTTQGSQQTQPPQKHYGITSPISLAAPKETDCVLTQKLIETLKPFGVFEEEEELQRRILILGKLNNLVKEWI
REISESKNLPQSVIENVGGKIFTFGSYRLGVHTKGADIDALCVAPRHVDRSDFFTSFYDKLKLQEEVKDLRAVEEAFVPVIKLCFDGIEI
DILFARLALQTIPEDLDLRDDSLLKNLDIRCIRSLNGCRVTDEILHLVPNIDNFRLTLRAIKLWAKRHNIYSNILGFLGGVSWAMLVART
CQLYPNAIASTLVHKFFLVFSKWEWPNPVLLKQPEECNLNLPVWDPRVNPSDRYHLMPIITPAYPQQNSTYNVSVSTRMVMVEEFKQGLA
ITDEILLSKAEWSKLFEAPNFFQKYKHYIVLLASAPTEKQRLEWVGLVESKIRILVGSLEKNEFITLAHVNPQSFPAPKENPDKEEFRTM
WVIGLVFKKTENSENLSVDLTYDIQSFTDTVYRQAINSKMFEVDMKIAAMHVKRKQLHQLLPNHVLQKKKKHSTEGVKLTALNDSSLDLS
MDSDNSMSVPSPTSATKTSPLNSSGSSQGRNSPAPAVTAASVTNIQATEVSVPQVNSSESSGGTSSESIPQTATQPAISPPPKPTVSRVV
SSTRLVNPPPRSSGNAATSGNAATKIPTPIVGVKRTSSPHKEESPKKTKTEEDETSEDANCLALSGHDKTEAKGTARRKKKVVHRTATAD
DKKLQFSLKKLGVNNISGIEEVNMFTNQGTVIHFNNPKVQASLAANTFTITGHAETKQLTEMLPSILNQLGADSLTSLRRLAEALPKQSV

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Fusion Gene PPI Analysis for PAPOLA-BTF3


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for PAPOLA-BTF3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for PAPOLA-BTF3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource