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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:DIS3L2-ARMC9 (FusionGDB2 ID:HG129563TG80210)

Fusion Gene Summary for DIS3L2-ARMC9

check button Fusion gene summary
Fusion gene informationFusion gene name: DIS3L2-ARMC9
Fusion gene ID: hg129563tg80210
HgeneTgene
Gene symbol

DIS3L2

ARMC9

Gene ID

129563

80210

Gene nameDIS3 like 3'-5' exoribonuclease 2armadillo repeat containing 9
SynonymsFAM6A|PRLMNS|hDIS3L2ARM|JBTS30|KU-MEL-1|NS21
Cytomap('DIS3L2')('ARMC9')

2q37.1

2q37.1

Type of geneprotein-codingprotein-coding
DescriptionDIS3-like exonuclease 2DIS3 mitotic control homolog-like 2family with sequence similarity 6, member AlisH domain-containing protein ARMC9armadillo repeat-containing protein 9armadillo/beta-catenin-like repeatsmelanoma/melanocyte specific protein KU-MEL-1melanoma/melanocyte-specific tumor antigen KU-MEL-1
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000470087, ENST00000273009, 
ENST00000325385, ENST00000360410, 
ENST00000409307, ENST00000409401, 
Fusion gene scores* DoF score27 X 9 X 12=29168 X 7 X 10=560
# samples 2512
** MAII scorelog2(25/2916*10)=-3.54399071966485
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/560*10)=-2.22239242133645
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DIS3L2 [Title/Abstract] AND ARMC9 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDIS3L2(232894790)-ARMC9(232160911), # 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
HgeneDIS3L2

GO:0010587

miRNA catabolic process

24141620



check button Fusion gene information
* 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
ChimerDB4BLCATCGA-K4-A83P-01ADIS3L2chr2

232894790

-ARMC9chr2

232160911

+


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Fusion Gene ORF analysis for DIS3L2-ARMC9

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-3CDSENST00000470087ENST00000349938DIS3L2chr2

232894790

-ARMC9chr2

232160911

+
3UTR-3UTRENST00000470087ENST00000483477DIS3L2chr2

232894790

-ARMC9chr2

232160911

+
5CDS-3UTRENST00000273009ENST00000483477DIS3L2chr2

232894790

-ARMC9chr2

232160911

+
5CDS-3UTRENST00000325385ENST00000483477DIS3L2chr2

232894790

-ARMC9chr2

232160911

+
5CDS-3UTRENST00000360410ENST00000483477DIS3L2chr2

232894790

-ARMC9chr2

232160911

+
5CDS-3UTRENST00000409307ENST00000483477DIS3L2chr2

232894790

-ARMC9chr2

232160911

+
5CDS-3UTRENST00000409401ENST00000483477DIS3L2chr2

232894790

-ARMC9chr2

232160911

+
Frame-shiftENST00000273009ENST00000349938DIS3L2chr2

232894790

-ARMC9chr2

232160911

+
Frame-shiftENST00000325385ENST00000349938DIS3L2chr2

232894790

-ARMC9chr2

232160911

+
Frame-shiftENST00000360410ENST00000349938DIS3L2chr2

232894790

-ARMC9chr2

232160911

+
Frame-shiftENST00000409307ENST00000349938DIS3L2chr2

232894790

-ARMC9chr2

232160911

+
Frame-shiftENST00000409401ENST00000349938DIS3L2chr2

232894790

-ARMC9chr2

232160911

+

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)

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

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Fusion Genomic Features for DIS3L2-ARMC9


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)


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Fusion Protein Features for DIS3L2-ARMC9


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/:232894790/:232160911)
- 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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for DIS3L2-ARMC9


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.

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Fusion Gene PPI Analysis for DIS3L2-ARMC9


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 DIS3L2-ARMC9


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 DIS3L2-ARMC9


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDIS3L2C0796113Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor6CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0431399Familial aplasia of the vermis1GENOMICS_ENGLAND;ORPHANET
TgeneC3714756Intellectual Disability1GENOMICS_ENGLAND
TgeneC4539937JOUBERT SYNDROME 301GENOMICS_ENGLAND;UNIPROT
TgeneC4551568Joubert syndrome 11ORPHANET