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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:ASXL2-WDR33 (FusionGDB2 ID:HG55252TG55339)

Fusion Gene Summary for ASXL2-WDR33

check button Fusion gene summary
Fusion gene informationFusion gene name: ASXL2-WDR33
Fusion gene ID: hg55252tg55339
HgeneTgene
Gene symbol

ASXL2

WDR33

Gene ID

55252

55339

Gene nameASXL transcriptional regulator 2WD repeat domain 33
SynonymsASXH2|SHAPNSNET14|WDC146
Cytomap('ASXL2')('WDR33')

2p23.3

2q14.3

Type of geneprotein-codingprotein-coding
Descriptionputative Polycomb group protein ASXL2additional sex combs like 2, transcriptional regulatoradditional sex combs-like protein 2polycomb group protein ASXH2pre-mRNA 3' end processing protein WDR33WD repeat-containing protein 33WD repeat-containing protein WDC146WD repeat-containing protein of 146 kDa
Modification date2020031320200313
UniProtAcc

Q76L83

.
Ensembl transtripts involved in fusion geneENST00000336112, ENST00000435504, 
ENST00000272341, ENST00000497092, 
ENST00000404843, 
Fusion gene scores* DoF score18 X 11 X 10=19807 X 6 X 4=168
# samples 247
** MAII scorelog2(24/1980*10)=-3.04439411935845
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ASXL2 [Title/Abstract] AND WDR33 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointASXL2(26022254)-WDR33(128467430), # samples:1
Anticipated loss of major functional domain due to fusion event.ASXL2-WDR33 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
ASXL2-WDR33 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
ASXL2-WDR33 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ASXL2-WDR33 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
HgeneASXL2

GO:0035360

positive regulation of peroxisome proliferator activated receptor signaling pathway

21047783

HgeneASXL2

GO:0045600

positive regulation of fat cell differentiation

21047783

HgeneASXL2

GO:0045944

positive regulation of transcription by RNA polymerase II

21047783



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
ChimerDB4Non-CancerERR315494ASXL2chr2

26022254

-WDR33chr2

128467430

-


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Fusion Gene ORF analysis for ASXL2-WDR33

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-intronENST00000336112ENST00000393006ASXL2chr2

26022254

-WDR33chr2

128467430

-
5CDS-intronENST00000336112ENST00000409658ASXL2chr2

26022254

-WDR33chr2

128467430

-
5CDS-intronENST00000435504ENST00000393006ASXL2chr2

26022254

-WDR33chr2

128467430

-
5CDS-intronENST00000435504ENST00000409658ASXL2chr2

26022254

-WDR33chr2

128467430

-
5UTR-3CDSENST00000272341ENST00000322313ASXL2chr2

26022254

-WDR33chr2

128467430

-
5UTR-3CDSENST00000497092ENST00000322313ASXL2chr2

26022254

-WDR33chr2

128467430

-
5UTR-intronENST00000272341ENST00000393006ASXL2chr2

26022254

-WDR33chr2

128467430

-
5UTR-intronENST00000272341ENST00000409658ASXL2chr2

26022254

-WDR33chr2

128467430

-
5UTR-intronENST00000497092ENST00000393006ASXL2chr2

26022254

-WDR33chr2

128467430

-
5UTR-intronENST00000497092ENST00000409658ASXL2chr2

26022254

-WDR33chr2

128467430

-
Frame-shiftENST00000336112ENST00000322313ASXL2chr2

26022254

-WDR33chr2

128467430

-
Frame-shiftENST00000435504ENST00000322313ASXL2chr2

26022254

-WDR33chr2

128467430

-
intron-3CDSENST00000404843ENST00000322313ASXL2chr2

26022254

-WDR33chr2

128467430

-
intron-intronENST00000404843ENST00000393006ASXL2chr2

26022254

-WDR33chr2

128467430

-
intron-intronENST00000404843ENST00000409658ASXL2chr2

26022254

-WDR33chr2

128467430

-

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 ASXL2-WDR33


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 ASXL2-WDR33


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/:26022254/:128467430)
- 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
ASXL2

Q76L83

.
FUNCTION: Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity). Involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as peroxisome proliferator-activated receptor gamma (PPARG). Acts as coactivator for PPARG and enhances its adipocyte differentiation-inducing activity; the function seems to involve differential recruitment of acetylated and methylated histone H3. {ECO:0000250, ECO:0000269|PubMed:21047783}.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 ASXL2-WDR33


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 ASXL2-WDR33


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 ASXL2-WDR33


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 ASXL2-WDR33


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneASXL2C0005684Malignant neoplasm of urinary bladder1CTD_human
HgeneASXL2C0005695Bladder Neoplasm1CTD_human
HgeneASXL2C0023467Leukemia, Myelocytic, Acute1CTD_human
HgeneASXL2C0026998Acute Myeloid Leukemia, M11CTD_human
HgeneASXL2C1879321Acute Myeloid Leukemia (AML-M2)1CTD_human
HgeneASXL2C4310672SHASHI-PENA SYNDROME1GENOMICS_ENGLAND