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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:RASSF3-TBK1 (FusionGDB2 ID:72502)

Fusion Gene Summary for RASSF3-TBK1

check button Fusion gene summary
Fusion gene informationFusion gene name: RASSF3-TBK1
Fusion gene ID: 72502
HgeneTgene
Gene symbol

RASSF3

TBK1

Gene ID

283349

29110

Gene nameRas association domain family member 3TANK binding kinase 1
SynonymsRASSF5FTDALS4|IIAE8|NAK|T2K
Cytomap

12q14.2

12q14.2

Type of geneprotein-codingprotein-coding
Descriptionras association domain-containing protein 3Ras association (RalGDS/AF-6) domain family 3Ras association (RalGDS/AF-6) domain family member 3serine/threonine-protein kinase TBK1NF-kB-activating kinaseNF-kappa-B-activating kinase
Modification date2020032720200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000540088, ENST00000336061, 
ENST00000542104, 
ENST00000331710, 
Fusion gene scores* DoF score18 X 7 X 12=15127 X 7 X 5=245
# samples 189
** MAII scorelog2(18/1512*10)=-3.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/245*10)=-1.4447848426729
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RASSF3 [Title/Abstract] AND TBK1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRASSF3(65004523)-TBK1(64889263), # samples:4
Anticipated loss of major functional domain due to fusion event.RASSF3-TBK1 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
RASSF3-TBK1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
RASSF3-TBK1 seems lost the major protein functional domain in Tgene partner, which is a kinase due to the frame-shifted ORF.
* 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
TgeneTBK1

GO:0006468

protein phosphorylation

27103069

TgeneTBK1

GO:0016239

positive regulation of macroautophagy

27103069

TgeneTBK1

GO:0018105

peptidyl-serine phosphorylation

25636800|25803835|27103069

TgeneTBK1

GO:0018107

peptidyl-threonine phosphorylation

25636800|27103069

TgeneTBK1

GO:0032479

regulation of type I interferon production

25636800

TgeneTBK1

GO:0032727

positive regulation of interferon-alpha production

16127453

TgeneTBK1

GO:0032728

positive regulation of interferon-beta production

16127453

TgeneTBK1

GO:0045087

innate immune response

25636800

TgeneTBK1

GO:0045944

positive regulation of transcription by RNA polymerase II

16127453


check buttonFusion gene breakpoints across RASSF3 (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 TBK1 (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
ChimerDB4ESCATCGA-L5-A4OQ-01ARASSF3chr12

65004523

+TBK1chr12

64873792

+
ChimerDB4READTCGA-EF-5830-01ARASSF3chr12

65004523

-TBK1chr12

64889263

+
ChimerDB4READTCGA-EF-5830-01ARASSF3chr12

65004523

+TBK1chr12

64889263

+
ChimerDB4READTCGA-EF-5830RASSF3chr12

65004523

+TBK1chr12

64882267

+
ChimerDB4READTCGA-EF-5830RASSF3chr12

65004523

+TBK1chr12

64889263

+
ChimerDB4SKCMTCGA-EE-A2MH-06ARASSF3chr12

65004523

+TBK1chr12

64889263

+


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Fusion Gene ORF analysis for RASSF3-TBK1

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
3UTR-3CDSENST00000540088ENST00000331710RASSF3chr12

65004523

+TBK1chr12

64873792

+
3UTR-3CDSENST00000540088ENST00000331710RASSF3chr12

65004523

+TBK1chr12

64889263

+
3UTR-3CDSENST00000540088ENST00000331710RASSF3chr12

65004523

+TBK1chr12

64882267

+
Frame-shiftENST00000336061ENST00000331710RASSF3chr12

65004523

+TBK1chr12

64873792

+
Frame-shiftENST00000336061ENST00000331710RASSF3chr12

65004523

+TBK1chr12

64882267

+
Frame-shiftENST00000542104ENST00000331710RASSF3chr12

65004523

+TBK1chr12

64873792

+
Frame-shiftENST00000542104ENST00000331710RASSF3chr12

65004523

+TBK1chr12

64882267

+
In-frameENST00000336061ENST00000331710RASSF3chr12

65004523

+TBK1chr12

64889263

+
In-frameENST00000542104ENST00000331710RASSF3chr12

65004523

+TBK1chr12

64889263

+

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)
ENST00000336061RASSF3chr1265004523+ENST00000331710TBK1chr1264889263+15501541822273
ENST00000542104RASSF3chr1265004523+ENST00000331710TBK1chr1264889263+162723112899295

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
ENST00000336061ENST00000331710RASSF3chr1265004523+TBK1chr1264889263+0.0008955460.99910444
ENST00000542104ENST00000331710RASSF3chr1265004523+TBK1chr1264889263+0.0009322240.99906784

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Fusion Genomic Features for RASSF3-TBK1


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)
RASSF3chr1265004523+TBK1chr1264873791+1.80E-101
RASSF3chr1265004523+TBK1chr1264889262+7.86E-141
RASSF3chr1265004523+TBK1chr1264889262+7.86E-141
RASSF3chr1265004523+TBK1chr1264882266+9.97E-131
RASSF3chr1265004523+TBK1chr1264873791+1.80E-101
RASSF3chr1265004523+TBK1chr1264889262+7.86E-141
RASSF3chr1265004523+TBK1chr1264889262+7.86E-141
RASSF3chr1265004523+TBK1chr1264882266+9.97E-131

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 RASSF3-TBK1


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/chr12:65004523/chr12:64889263)
- 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
..
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}.

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
TgeneTBK1chr12:65004523chr12:64889263ENST000003317101221658_713507730.0Coiled coilOntology_term=ECO:0000255

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRASSF3chr12:65004523chr12:64889263ENST00000336061+26187_23437239.0DomainSARAH
HgeneRASSF3chr12:65004523chr12:64889263ENST00000336061+2679_18637239.0DomainRas-associating
HgeneRASSF3chr12:65004523chr12:64889263ENST00000542104+15187_23437239.0DomainSARAH
HgeneRASSF3chr12:65004523chr12:64889263ENST00000542104+1579_18637239.0DomainRas-associating
TgeneTBK1chr12:65004523chr12:64889263ENST000003317101221407_657507730.0Coiled coilOntology_term=ECO:0000250
TgeneTBK1chr12:65004523chr12:64889263ENST000003317101221309_385507730.0DomainNote=Ubiquitin-like
TgeneTBK1chr12:65004523chr12:64889263ENST0000033171012219_310507730.0DomainProtein kinase
TgeneTBK1chr12:65004523chr12:64889263ENST00000331710122115_23507730.0Nucleotide bindingATP


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Fusion Gene Sequence for RASSF3-TBK1


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.
>72502_72502_1_RASSF3-TBK1_RASSF3_chr12_65004523_ENST00000336061_TBK1_chr12_64889263_ENST00000331710_length(transcript)=1550nt_BP=154nt
GCTGCATAAGGACTGCCCGGGGCTGCGCGACGGGACCGGCAGCATGAGCAGCGGCTACAGCAGCCTGGAGGAGGACGCCGAGGACTTCTT
CTTCACCGCCAGGACCTCCTTCTTCAGGAGAGCGCCCCAGGGCAAGCCCCGCTCCGGCCAACAACTTTCCAGTTCTCAGGGAACAATAGA
AACCAGTCTTCAGGATATCGACAGCAGATTATCTCCAGGTGGATCACTGGCAGACGCATGGGCACATCAAGAAGGCACTCATCCGAAAGA
CAGAAATGTAGAAAAACTACAAGTCCTGTTAAATTGCATGACAGAGATTTACTATCAGTTCAAAAAAGACAAAGCAGAACGTAGATTAGC
TTATAATGAAGAACAAATCCACAAATTTGATAAGCAAAAACTGTATTACCATGCCACAAAAGCTATGACGCACTTTACAGATGAATGTGT
TAAAAAGTATGAGGCATTTTTGAATAAGTCAGAAGAATGGATAAGAAAGATGCTTCATCTTAGGAAACAGTTATTATCGCTGACTAATCA
GTGTTTTGATATTGAAGAAGAAGTATCAAAATATCAAGAATATACTAATGAGTTACAAGAAACTCTGCCTCAGAAAATGTTTACAGCTTC
CAGTGGAATCAAACATACCATGACCCCAATTTATCCAAGTTCTAACACATTAGTAGAAATGACTCTTGGTATGAAGAAATTAAAGGAAGA
GATGGAAGGGGTGGTTAAAGAACTTGCTGAAAATAACCACATTTTAGAAAGGTTTGGCTCTTTAACCATGGATGGTGGCCTTCGCAACGT
TGACTGTCTTTAGCTTTCTAATAGAAGTTTAAGAAAAGTTTCCGTTTGCACAAGAAAATAACGCTTGGGCATTAAATGAATGCCTTTATA
GATAGTCACTTGTTTCTACAATTCAGTATTTGATGTGGTCGTGTAAATATGTACAATATTGTAAATACATAAAAAATATACAAATTTTTG
GCTGCTGTGAAGATGTAATTTTATCTTTTAACATTTATAATTATATGAGGAAATTTGACCTCAGTGATCACGAGAAGAAAGCCATGACCG
ACCAATATGTTGACATACTGATCCTCTACTCTGAGTGGGGCTAAATAAGTTATTTTCTCTGACCGCCTACTGGAAATATTTTTAAGTGGA
ACCAAAATAGGCATCCTTACAAATCAGGAAGACTGACTTGACACGTTTGTAAATGGTAGAACGGTGGCTACTGTGAGTGGGGAGCAGAAC
CGCACCACTGTTATACTGGGATAACAATTTTTTTGAGAAGGATAAAGTGGCATTATTTTATTTTACAAGGTGCCCAGATCCCAGTTATCC
TTGTATCCATGTAATTTCAGATGAATTATTAAGCAAACATTTTAAAGTGAATTCATTATTAAAAACTATTCATTTTTTTCCTTTGGCCAT
AAATGTGTAATTGTCATTAAAATTCTAAGGTCATTTCAACTGTTTTAAGCTGTATATTTCTTTAATTCTGCTTACTATTTCATGGAAAAA

>72502_72502_1_RASSF3-TBK1_RASSF3_chr12_65004523_ENST00000336061_TBK1_chr12_64889263_ENST00000331710_length(amino acids)=273AA_BP=51
LHKDCPGLRDGTGSMSSGYSSLEEDAEDFFFTARTSFFRRAPQGKPRSGQQLSSSQGTIETSLQDIDSRLSPGGSLADAWAHQEGTHPKD
RNVEKLQVLLNCMTEIYYQFKKDKAERRLAYNEEQIHKFDKQKLYYHATKAMTHFTDECVKKYEAFLNKSEEWIRKMLHLRKQLLSLTNQ
CFDIEEEVSKYQEYTNELQETLPQKMFTASSGIKHTMTPIYPSSNTLVEMTLGMKKLKEEMEGVVKELAENNHILERFGSLTMDGGLRNV

--------------------------------------------------------------
>72502_72502_2_RASSF3-TBK1_RASSF3_chr12_65004523_ENST00000542104_TBK1_chr12_64889263_ENST00000331710_length(transcript)=1627nt_BP=231nt
GCTGCATAAGGACTGCCCGGGGCTGCGCGCCGGGAACCTCGCGGGGCTGGCGGGCGCCGCACCCCCTCCCTGGCCGCCTGCGCCCCGGGG
AGGCCGCCCGCGCGCGACGGGACCGGCAGCATGAGCAGCGGCTACAGCAGCCTGGAGGAGGACGCCGAGGACTTCTTCTTCACCGCCAGG
ACCTCCTTCTTCAGGAGAGCGCCCCAGGGCAAGCCCCGCTCCGGCCAACAACTTTCCAGTTCTCAGGGAACAATAGAAACCAGTCTTCAG
GATATCGACAGCAGATTATCTCCAGGTGGATCACTGGCAGACGCATGGGCACATCAAGAAGGCACTCATCCGAAAGACAGAAATGTAGAA
AAACTACAAGTCCTGTTAAATTGCATGACAGAGATTTACTATCAGTTCAAAAAAGACAAAGCAGAACGTAGATTAGCTTATAATGAAGAA
CAAATCCACAAATTTGATAAGCAAAAACTGTATTACCATGCCACAAAAGCTATGACGCACTTTACAGATGAATGTGTTAAAAAGTATGAG
GCATTTTTGAATAAGTCAGAAGAATGGATAAGAAAGATGCTTCATCTTAGGAAACAGTTATTATCGCTGACTAATCAGTGTTTTGATATT
GAAGAAGAAGTATCAAAATATCAAGAATATACTAATGAGTTACAAGAAACTCTGCCTCAGAAAATGTTTACAGCTTCCAGTGGAATCAAA
CATACCATGACCCCAATTTATCCAAGTTCTAACACATTAGTAGAAATGACTCTTGGTATGAAGAAATTAAAGGAAGAGATGGAAGGGGTG
GTTAAAGAACTTGCTGAAAATAACCACATTTTAGAAAGGTTTGGCTCTTTAACCATGGATGGTGGCCTTCGCAACGTTGACTGTCTTTAG
CTTTCTAATAGAAGTTTAAGAAAAGTTTCCGTTTGCACAAGAAAATAACGCTTGGGCATTAAATGAATGCCTTTATAGATAGTCACTTGT
TTCTACAATTCAGTATTTGATGTGGTCGTGTAAATATGTACAATATTGTAAATACATAAAAAATATACAAATTTTTGGCTGCTGTGAAGA
TGTAATTTTATCTTTTAACATTTATAATTATATGAGGAAATTTGACCTCAGTGATCACGAGAAGAAAGCCATGACCGACCAATATGTTGA
CATACTGATCCTCTACTCTGAGTGGGGCTAAATAAGTTATTTTCTCTGACCGCCTACTGGAAATATTTTTAAGTGGAACCAAAATAGGCA
TCCTTACAAATCAGGAAGACTGACTTGACACGTTTGTAAATGGTAGAACGGTGGCTACTGTGAGTGGGGAGCAGAACCGCACCACTGTTA
TACTGGGATAACAATTTTTTTGAGAAGGATAAAGTGGCATTATTTTATTTTACAAGGTGCCCAGATCCCAGTTATCCTTGTATCCATGTA
ATTTCAGATGAATTATTAAGCAAACATTTTAAAGTGAATTCATTATTAAAAACTATTCATTTTTTTCCTTTGGCCATAAATGTGTAATTG
TCATTAAAATTCTAAGGTCATTTCAACTGTTTTAAGCTGTATATTTCTTTAATTCTGCTTACTATTTCATGGAAAAAAATAAATTTCTCA

>72502_72502_2_RASSF3-TBK1_RASSF3_chr12_65004523_ENST00000542104_TBK1_chr12_64889263_ENST00000331710_length(amino acids)=295AA_BP=73
MPGAARREPRGAGGRRTPSLAACAPGRPPARDGTGSMSSGYSSLEEDAEDFFFTARTSFFRRAPQGKPRSGQQLSSSQGTIETSLQDIDS
RLSPGGSLADAWAHQEGTHPKDRNVEKLQVLLNCMTEIYYQFKKDKAERRLAYNEEQIHKFDKQKLYYHATKAMTHFTDECVKKYEAFLN
KSEEWIRKMLHLRKQLLSLTNQCFDIEEEVSKYQEYTNELQETLPQKMFTASSGIKHTMTPIYPSSNTLVEMTLGMKKLKEEMEGVVKEL

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Fusion Gene PPI Analysis for RASSF3-TBK1


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
TgeneTBK1chr12:65004523chr12:64889263ENST000003317101221621_729507.0730.0AZI2%2C TANK and TBKBP1


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 RASSF3-TBK1


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 RASSF3-TBK1


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