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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:PML-AXIN2 (FusionGDB2 ID:66632)

Fusion Gene Summary for PML-AXIN2

check button Fusion gene summary
Fusion gene informationFusion gene name: PML-AXIN2
Fusion gene ID: 66632
HgeneTgene
Gene symbol

PML

AXIN2

Gene ID

5371

8313

Gene namepromyelocytic leukemiaaxin 2
SynonymsMYL|PP8675|RNF71|TRIM19AXIL|ODCRCS
Cytomap

15q24.1

17q24.1

Type of geneprotein-codingprotein-coding
Descriptionprotein PMLPML/RARA fusionRING finger protein 71probable transcription factor PMLpromyelocytic leukemia proteinpromyelocytic leukemia, inducer oftripartite motif protein TRIM19tripartite motif-containing protein 19axin-2axin-like proteinaxis inhibition protein 2conductin
Modification date2020031320200313
UniProtAcc.

Q9Y2T1

Ensembl transtripts involved in fusion geneENST00000268059, ENST00000354026, 
ENST00000395132, ENST00000435786, 
ENST00000436891, ENST00000563500, 
ENST00000268058, ENST00000359928, 
ENST00000395135, ENST00000564428, 
ENST00000565898, ENST00000567543, 
ENST00000569161, ENST00000569477, 
ENST00000569965, 		ENST00000307078, 
ENST00000375702, 
Fusion gene scores* DoF score10 X 32 X 6=19206 X 4 X 2=48
# samples 366
** MAII scorelog2(36/1920*10)=-2.41503749927884
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/48*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PML [Title/Abstract] AND AXIN2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPML(74328735)-AXIN2(63534772), # 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
HgenePML

GO:0001666

response to hypoxia

16915281

HgenePML

GO:0030308

negative regulation of cell growth

9448006

HgenePML

GO:0034097

response to cytokine

9412458

HgenePML

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

22406621

HgenePML

GO:0045087

innate immune response

18248090

HgenePML

GO:0045892

negative regulation of transcription, DNA-templated

9448006

HgenePML

GO:0051457

maintenance of protein location in nucleus

17332504

HgenePML

GO:0065003

protein-containing complex assembly

12915590

HgenePML

GO:0090398

cellular senescence

22002537|22117195|23431171

HgenePML

GO:1902187

negative regulation of viral release from host cell

18248090

TgeneAXIN2

GO:0034613

cellular protein localization

17072303

TgeneAXIN2

GO:0090090

negative regulation of canonical Wnt signaling pathway

11940574


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

check buttonFusion gene breakpoints across AXIN2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChiTaRS5.0N/AAF230402PMLchr15

74328735

+AXIN2chr17

63534772

+


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Fusion Gene ORF analysis for PML-AXIN2

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-intronENST00000268059ENST00000307078PMLchr15

74328735

+AXIN2chr17

63534772

+
5CDS-intronENST00000268059ENST00000375702PMLchr15

74328735

+AXIN2chr17

63534772

+
5CDS-intronENST00000354026ENST00000307078PMLchr15

74328735

+AXIN2chr17

63534772

+
5CDS-intronENST00000354026ENST00000375702PMLchr15

74328735

+AXIN2chr17

63534772

+
5CDS-intronENST00000395132ENST00000307078PMLchr15

74328735

+AXIN2chr17

63534772

+
5CDS-intronENST00000395132ENST00000375702PMLchr15

74328735

+AXIN2chr17

63534772

+
5CDS-intronENST00000435786ENST00000307078PMLchr15

74328735

+AXIN2chr17

63534772

+
5CDS-intronENST00000435786ENST00000375702PMLchr15

74328735

+AXIN2chr17

63534772

+
5CDS-intronENST00000436891ENST00000307078PMLchr15

74328735

+AXIN2chr17

63534772

+
5CDS-intronENST00000436891ENST00000375702PMLchr15

74328735

+AXIN2chr17

63534772

+
5CDS-intronENST00000563500ENST00000307078PMLchr15

74328735

+AXIN2chr17

63534772

+
5CDS-intronENST00000563500ENST00000375702PMLchr15

74328735

+AXIN2chr17

63534772

+
intron-intronENST00000268058ENST00000307078PMLchr15

74328735

+AXIN2chr17

63534772

+
intron-intronENST00000268058ENST00000375702PMLchr15

74328735

+AXIN2chr17

63534772

+
intron-intronENST00000359928ENST00000307078PMLchr15

74328735

+AXIN2chr17

63534772

+
intron-intronENST00000359928ENST00000375702PMLchr15

74328735

+AXIN2chr17

63534772

+
intron-intronENST00000395135ENST00000307078PMLchr15

74328735

+AXIN2chr17

63534772

+
intron-intronENST00000395135ENST00000375702PMLchr15

74328735

+AXIN2chr17

63534772

+
intron-intronENST00000564428ENST00000307078PMLchr15

74328735

+AXIN2chr17

63534772

+
intron-intronENST00000564428ENST00000375702PMLchr15

74328735

+AXIN2chr17

63534772

+
intron-intronENST00000565898ENST00000307078PMLchr15

74328735

+AXIN2chr17

63534772

+
intron-intronENST00000565898ENST00000375702PMLchr15

74328735

+AXIN2chr17

63534772

+
intron-intronENST00000567543ENST00000307078PMLchr15

74328735

+AXIN2chr17

63534772

+
intron-intronENST00000567543ENST00000375702PMLchr15

74328735

+AXIN2chr17

63534772

+
intron-intronENST00000569161ENST00000307078PMLchr15

74328735

+AXIN2chr17

63534772

+
intron-intronENST00000569161ENST00000375702PMLchr15

74328735

+AXIN2chr17

63534772

+
intron-intronENST00000569477ENST00000307078PMLchr15

74328735

+AXIN2chr17

63534772

+
intron-intronENST00000569477ENST00000375702PMLchr15

74328735

+AXIN2chr17

63534772

+
intron-intronENST00000569965ENST00000307078PMLchr15

74328735

+AXIN2chr17

63534772

+
intron-intronENST00000569965ENST00000375702PMLchr15

74328735

+AXIN2chr17

63534772

+

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 PML-AXIN2


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)

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.

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.

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Fusion Protein Features for PML-AXIN2


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/:74328735/:63534772)
- 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
.AXIN2

Q9Y2T1

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: Inhibitor of the Wnt signaling pathway. Down-regulates beta-catenin. Probably facilitate the phosphorylation of beta-catenin and APC by GSK3B. {ECO:0000250|UniProtKB:O15169}.

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 PML-AXIN2


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 PML-AXIN2


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 PML-AXIN2


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 PML-AXIN2


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