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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:ASXL2-PPWD1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ASXL2-PPWD1
FusionPDB ID: 7315
FusionGDB2.0 ID: 7315
HgeneTgene
Gene symbol

ASXL2

PPWD1

Gene ID

55252

23398

Gene nameASXL transcriptional regulator 2peptidylprolyl isomerase domain and WD repeat containing 1
SynonymsASXH2|SHAPNS-
Cytomap

2p23.3

5q12.3

Type of geneprotein-codingprotein-coding
Descriptionputative Polycomb group protein ASXL2additional sex combs like 2, transcriptional regulatoradditional sex combs-like protein 2polycomb group protein ASXH2peptidylprolyl isomerase domain and WD repeat-containing protein 1epididymis secretory sperm binding proteinspliceosome-associated cyclophilin
Modification date2020031320200313
UniProtAcc

Q76L83

.
Ensembl transtripts involved in fusion geneENST idsENST00000336112, ENST00000435504, 
ENST00000272341, ENST00000497092, 
ENST00000404843, 		ENST00000538977, 
ENST00000261308, ENST00000535264, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score18 X 11 X 10=19804 X 3 X 5=60
# samples 246
** MAII scorelog2(24/1980*10)=-3.04439411935845
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/60*10)=0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ASXL2 [Title/Abstract] AND PPWD1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ASXL2(26029098)-PPWD1(64872706), # samples:2
Anticipated loss of major functional domain due to fusion event.ASXL2-PPWD1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ASXL2-PPWD1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ASXL2-PPWD1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
ASXL2-PPWD1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
ASXL2-PPWD1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
ASXL2-PPWD1 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
ASXL2-PPWD1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ASXL2-PPWD1 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

TgenePPWD1

GO:0000413

protein peptidyl-prolyl isomerization

20676357


check buttonFusion gene breakpoints across ASXL2 (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 PPWD1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4ACCTCGA-OR-A5J2-01AASXL2chr2

26029098

-PPWD1chr5

64863340

+
ChimerDB4ACCTCGA-OR-A5J2-01AASXL2chr2

26029098

-PPWD1chr5

64872706

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000435504ASXL2chr226029098-ENST00000261308PPWD1chr564872706+16715461531517454
ENST00000435504ASXL2chr226029098-ENST00000535264PPWD1chr564872706+15445461531517454
ENST00000435504ASXL2chr226029098-ENST00000538977PPWD1chr564872706+16495461531517454

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
ENST00000435504ENST00000261308ASXL2chr226029098-PPWD1chr564872706+0.0009835290.9990164
ENST00000435504ENST00000535264ASXL2chr226029098-PPWD1chr564872706+0.0013935080.9986065
ENST00000435504ENST00000538977ASXL2chr226029098-PPWD1chr564872706+0.0010729070.99892706

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>7315_7315_1_ASXL2-PPWD1_ASXL2_chr2_26029098_ENST00000435504_PPWD1_chr5_64872706_ENST00000261308_length(amino acids)=454AA_BP=131
MLGCPPGLTSLFSHLSRHRGKSSAGQSRQGGRPEPGHGSLPVSSRPDMREKGRRKKGRTWAEAAKTVLEKYPNTPMSHKEILQVIQREGL
KEIRSGTSPLACLNAMLHTNSRGEEGIFYKVPGRMGVYTLKMFTELQQMRQQLPDMEFGRRMAVERELEKVDAVRLINIVFDETGHFVLY
GTMLGIKVINVETNRCVRILGKQENIRVMQLALFQGIAKKHRAATTIEMKASENPVLQNIQADPTIVCTSFKKNRFYMFTKREPEDTKSA
DSDRDVFNEKPSKEEVMAATQAEGPKRVSDSAIIHTSMGDIHTKLFPVECPKTVENFCVHSRNGYYNGHTFHRIIKGFMIQTGDPTGTGM
GGESIWGGEFEDEFHSTLRHDRPYTLSMANAGSNTNGSQFFITVVPTPWLDNKHTVFGRVTKGMEVVQRISNVKVNPKTDKPYEDVSIIN

--------------------------------------------------------------

>7315_7315_2_ASXL2-PPWD1_ASXL2_chr2_26029098_ENST00000435504_PPWD1_chr5_64872706_ENST00000535264_length(amino acids)=454AA_BP=131
MLGCPPGLTSLFSHLSRHRGKSSAGQSRQGGRPEPGHGSLPVSSRPDMREKGRRKKGRTWAEAAKTVLEKYPNTPMSHKEILQVIQREGL
KEIRSGTSPLACLNAMLHTNSRGEEGIFYKVPGRMGVYTLKMFTELQQMRQQLPDMEFGRRMAVERELEKVDAVRLINIVFDETGHFVLY
GTMLGIKVINVETNRCVRILGKQENIRVMQLALFQGIAKKHRAATTIEMKASENPVLQNIQADPTIVCTSFKKNRFYMFTKREPEDTKSA
DSDRDVFNEKPSKEEVMAATQAEGPKRVSDSAIIHTSMGDIHTKLFPVECPKTVENFCVHSRNGYYNGHTFHRIIKGFMIQTGDPTGTGM
GGESIWGGEFEDEFHSTLRHDRPYTLSMANAGSNTNGSQFFITVVPTPWLDNKHTVFGRVTKGMEVVQRISNVKVNPKTDKPYEDVSIIN

--------------------------------------------------------------

>7315_7315_3_ASXL2-PPWD1_ASXL2_chr2_26029098_ENST00000435504_PPWD1_chr5_64872706_ENST00000538977_length(amino acids)=454AA_BP=131
MLGCPPGLTSLFSHLSRHRGKSSAGQSRQGGRPEPGHGSLPVSSRPDMREKGRRKKGRTWAEAAKTVLEKYPNTPMSHKEILQVIQREGL
KEIRSGTSPLACLNAMLHTNSRGEEGIFYKVPGRMGVYTLKMFTELQQMRQQLPDMEFGRRMAVERELEKVDAVRLINIVFDETGHFVLY
GTMLGIKVINVETNRCVRILGKQENIRVMQLALFQGIAKKHRAATTIEMKASENPVLQNIQADPTIVCTSFKKNRFYMFTKREPEDTKSA
DSDRDVFNEKPSKEEVMAATQAEGPKRVSDSAIIHTSMGDIHTKLFPVECPKTVENFCVHSRNGYYNGHTFHRIIKGFMIQTGDPTGTGM
GGESIWGGEFEDEFHSTLRHDRPYTLSMANAGSNTNGSQFFITVVPTPWLDNKHTVFGRVTKGMEVVQRISNVKVNPKTDKPYEDVSIIN

--------------------------------------------------------------

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Fusion Protein Functional Features


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/chr2:26029098/chr5:64872706)
- 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: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneASXL2chr2:26029098chr5:64872706ENST00000435504-41311_8684.01436.0DomainHTH HARE-type
TgenePPWD1chr2:26029098chr5:64872706ENST00000261308411490_645323.0647.0DomainPPIase cyclophilin-type
TgenePPWD1chr2:26029098chr5:64872706ENST00000261308411345_386323.0647.0RepeatNote=WD 6
TgenePPWD1chr2:26029098chr5:64872706ENST00000261308411401_453323.0647.0RepeatNote=WD 7

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneASXL2chr2:26029098chr5:64872706ENST00000272341-3131173_11760919.0Compositional biasNote=Poly-Ser
HgeneASXL2chr2:26029098chr5:64872706ENST00000272341-313303_3070919.0Compositional biasNote=Poly-Leu
HgeneASXL2chr2:26029098chr5:64872706ENST00000272341-313654_6840919.0Compositional biasNote=Ala-rich
HgeneASXL2chr2:26029098chr5:64872706ENST00000272341-313687_7390919.0Compositional biasNote=Gly-rich
HgeneASXL2chr2:26029098chr5:64872706ENST00000272341-31395_2350919.0Compositional biasNote=Ser-rich
HgeneASXL2chr2:26029098chr5:64872706ENST00000404843-1101173_11760919.0Compositional biasNote=Poly-Ser
HgeneASXL2chr2:26029098chr5:64872706ENST00000404843-110303_3070919.0Compositional biasNote=Poly-Leu
HgeneASXL2chr2:26029098chr5:64872706ENST00000404843-110654_6840919.0Compositional biasNote=Ala-rich
HgeneASXL2chr2:26029098chr5:64872706ENST00000404843-110687_7390919.0Compositional biasNote=Gly-rich
HgeneASXL2chr2:26029098chr5:64872706ENST00000404843-11095_2350919.0Compositional biasNote=Ser-rich
HgeneASXL2chr2:26029098chr5:64872706ENST00000435504-4131173_117684.01436.0Compositional biasNote=Poly-Ser
HgeneASXL2chr2:26029098chr5:64872706ENST00000435504-413303_30784.01436.0Compositional biasNote=Poly-Leu
HgeneASXL2chr2:26029098chr5:64872706ENST00000435504-413654_68484.01436.0Compositional biasNote=Ala-rich
HgeneASXL2chr2:26029098chr5:64872706ENST00000435504-413687_73984.01436.0Compositional biasNote=Gly-rich
HgeneASXL2chr2:26029098chr5:64872706ENST00000435504-41395_23584.01436.0Compositional biasNote=Ser-rich
HgeneASXL2chr2:26029098chr5:64872706ENST00000272341-31311_860919.0DomainHTH HARE-type
HgeneASXL2chr2:26029098chr5:64872706ENST00000272341-313274_3830919.0DomainDEUBAD
HgeneASXL2chr2:26029098chr5:64872706ENST00000404843-11011_860919.0DomainHTH HARE-type
HgeneASXL2chr2:26029098chr5:64872706ENST00000404843-110274_3830919.0DomainDEUBAD
HgeneASXL2chr2:26029098chr5:64872706ENST00000435504-413274_38384.01436.0DomainDEUBAD
HgeneASXL2chr2:26029098chr5:64872706ENST00000272341-313174_1780919.0MotifNuclear localization signal
HgeneASXL2chr2:26029098chr5:64872706ENST00000272341-313887_8910919.0MotifNote=LXXLL motif 2
HgeneASXL2chr2:26029098chr5:64872706ENST00000404843-110174_1780919.0MotifNuclear localization signal
HgeneASXL2chr2:26029098chr5:64872706ENST00000404843-110887_8910919.0MotifNote=LXXLL motif 2
HgeneASXL2chr2:26029098chr5:64872706ENST00000435504-413174_17884.01436.0MotifNuclear localization signal
HgeneASXL2chr2:26029098chr5:64872706ENST00000435504-413887_89184.01436.0MotifNote=LXXLL motif 2
HgeneASXL2chr2:26029098chr5:64872706ENST00000272341-3131397_14340919.0Zinc fingerNote=PHD-type%3B atypical
HgeneASXL2chr2:26029098chr5:64872706ENST00000404843-1101397_14340919.0Zinc fingerNote=PHD-type%3B atypical
HgeneASXL2chr2:26029098chr5:64872706ENST00000435504-4131397_143484.01436.0Zinc fingerNote=PHD-type%3B atypical
TgenePPWD1chr2:26029098chr5:64872706ENST0000026130841112_17323.0647.0Compositional biasNote=Poly-Arg
TgenePPWD1chr2:26029098chr5:64872706ENST00000261308411124_162323.0647.0RepeatNote=WD 2
TgenePPWD1chr2:26029098chr5:64872706ENST00000261308411168_208323.0647.0RepeatNote=WD 3
TgenePPWD1chr2:26029098chr5:64872706ENST00000261308411213_252323.0647.0RepeatNote=WD 4
TgenePPWD1chr2:26029098chr5:64872706ENST00000261308411271_309323.0647.0RepeatNote=WD 5
TgenePPWD1chr2:26029098chr5:64872706ENST0000026130841180_118323.0647.0RepeatNote=WD 1


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
ASXL2all structure
PPWD1


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to ASXL2-PPWD1


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to ASXL2-PPWD1


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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