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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:ASXL1-TPX2 (FusionGDB2 ID:HG171023TG22974)

Fusion Gene Summary for ASXL1-TPX2

check button Fusion gene summary
Fusion gene informationFusion gene name: ASXL1-TPX2
Fusion gene ID: hg171023tg22974
HgeneTgene
Gene symbol

ASXL1

TPX2

Gene ID

171023

22974

Gene nameASXL transcriptional regulator 1TPX2 microtubule nucleation factor
SynonymsBOPS|MDSC20orf1|C20orf2|DIL-2|DIL2|FLS353|GD:C20orf1|HCA519|HCTP4|REPP86|p100
Cytomap('ASXL1')('TPX2')

20q11.21

20q11.21

Type of geneprotein-codingprotein-coding
Descriptionpolycomb group protein ASXL1additional sex combs like 1, transcriptional regulatoradditional sex combs like transcriptional regulator 1putative Polycomb group protein ASXL1targeting protein for Xklp2TPX2, microtubule-associated protein homologTPX2, microtubule-associated, homologdifferentially expressed in cancerous and non-cancerous lung cells 2differentially expressed in lung cellshepatocellular carcinoma-associated
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000470145, ENST00000306058, 
ENST00000375687, ENST00000375689, 
ENST00000542461, 
Fusion gene scores* DoF score16 X 10 X 8=12807 X 12 X 6=504
# samples 2113
** MAII scorelog2(21/1280*10)=-2.60768257722124
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/504*10)=-1.95491211047146
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ASXL1 [Title/Abstract] AND TPX2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointASXL1(30956926)-TPX2(30359363), # samples:3
Anticipated loss of major functional domain due to fusion event.ASXL1-TPX2 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
ASXL1-TPX2 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
ASXL1-TPX2 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
ASXL1-TPX2 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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
HgeneASXL1

GO:0035522

monoubiquitinated histone H2A deubiquitination

20436459

TgeneTPX2

GO:0007020

microtubule nucleation

26414402

TgeneTPX2

GO:0007026

negative regulation of microtubule depolymerization

26414402

TgeneTPX2

GO:0032147

activation of protein kinase activity

14580337|19801554

TgeneTPX2

GO:0090307

mitotic spindle assembly

26165940



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-A891-01AASXL1chr20

30956926

-TPX2chr20

30359363

+
ChimerDB4ESCATCGA-L5-A891-01AASXL1chr20

30956926

+TPX2chr20

30359363

+
ChimerDB4ESCATCGA-L5-A891ASXL1chr20

30956926

+TPX2chr20

30359362

+
ChimerDB4ESCATCGA-L5-A891ASXL1chr20

30956926

+TPX2chr20

30359363

+


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Fusion Gene ORF analysis for ASXL1-TPX2

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-3CDSENST00000470145ENST00000300403ASXL1chr20

30956926

+TPX2chr20

30359363

+
3UTR-3CDSENST00000470145ENST00000300403ASXL1chr20

30956926

+TPX2chr20

30359362

+
3UTR-3CDSENST00000470145ENST00000340513ASXL1chr20

30956926

+TPX2chr20

30359363

+
3UTR-3CDSENST00000470145ENST00000340513ASXL1chr20

30956926

+TPX2chr20

30359362

+
Frame-shiftENST00000306058ENST00000300403ASXL1chr20

30956926

+TPX2chr20

30359363

+
Frame-shiftENST00000306058ENST00000300403ASXL1chr20

30956926

+TPX2chr20

30359362

+
Frame-shiftENST00000306058ENST00000340513ASXL1chr20

30956926

+TPX2chr20

30359363

+
Frame-shiftENST00000306058ENST00000340513ASXL1chr20

30956926

+TPX2chr20

30359362

+
Frame-shiftENST00000375687ENST00000300403ASXL1chr20

30956926

+TPX2chr20

30359363

+
Frame-shiftENST00000375687ENST00000300403ASXL1chr20

30956926

+TPX2chr20

30359362

+
Frame-shiftENST00000375687ENST00000340513ASXL1chr20

30956926

+TPX2chr20

30359363

+
Frame-shiftENST00000375687ENST00000340513ASXL1chr20

30956926

+TPX2chr20

30359362

+
Frame-shiftENST00000375689ENST00000300403ASXL1chr20

30956926

+TPX2chr20

30359363

+
Frame-shiftENST00000375689ENST00000300403ASXL1chr20

30956926

+TPX2chr20

30359362

+
Frame-shiftENST00000375689ENST00000340513ASXL1chr20

30956926

+TPX2chr20

30359363

+
Frame-shiftENST00000375689ENST00000340513ASXL1chr20

30956926

+TPX2chr20

30359362

+
Frame-shiftENST00000542461ENST00000300403ASXL1chr20

30956926

+TPX2chr20

30359363

+
Frame-shiftENST00000542461ENST00000300403ASXL1chr20

30956926

+TPX2chr20

30359362

+
Frame-shiftENST00000542461ENST00000340513ASXL1chr20

30956926

+TPX2chr20

30359363

+
Frame-shiftENST00000542461ENST00000340513ASXL1chr20

30956926

+TPX2chr20

30359362

+

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 ASXL1-TPX2


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)
ASXL1chr2030956926+TPX2chr2030359362+5.09E-131
ASXL1chr2030956926+TPX2chr2030359362+5.09E-131
ASXL1chr2030956926+TPX2chr2030359362+5.09E-131
ASXL1chr2030956926+TPX2chr2030359362+5.09E-131


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 ASXL1-TPX2


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/:30956926/:30359363)
- 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 ASXL1-TPX2


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 ASXL1-TPX2


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 ASXL1-TPX2


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 ASXL1-TPX2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneASXL1C0796232Bohring syndrome3CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneASXL1C0349639Juvenile Myelomonocytic Leukemia2CTD_human;GENOMICS_ENGLAND
HgeneASXL1C3463824MYELODYSPLASTIC SYNDROME2CGI;CTD_human;GENOMICS_ENGLAND
HgeneASXL1C0023487Acute Promyelocytic Leukemia1CTD_human
HgeneASXL1C0027643Neoplasm Recurrence, Local1CTD_human
HgeneASXL1C0027708Nephroblastoma1CTD_human
HgeneASXL1C1301365Systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease1ORPHANET
HgeneASXL1C2713368Hematopoetic Myelodysplasia1CTD_human
HgeneASXL1C2930471Bilateral Wilms Tumor1CTD_human
TgeneC2239176Liver carcinoma1CTD_human