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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:PAPPA-PAPPA (FusionGDB2 ID:62229)

Fusion Gene Summary for PAPPA-PAPPA

check button Fusion gene summary
Fusion gene informationFusion gene name: PAPPA-PAPPA
Fusion gene ID: 62229
HgeneTgene
Gene symbol

PAPPA

PAPPA

Gene ID

5069

5069

Gene namepappalysin 1pappalysin 1
SynonymsASBABP2|DIPLA1|IGFBP-4ase|PAPA|PAPP-A|PAPPA1ASBABP2|DIPLA1|IGFBP-4ase|PAPA|PAPP-A|PAPPA1
Cytomap

9q33.1

9q33.1

Type of geneprotein-codingprotein-coding
Descriptionpappalysin-1IGF-dependent IGFBP-4 proteaseaspecific BCL2 ARE-binding protein 2differentially placenta 1 expressed proteininsulin-like growth factor-dependent IGF binding protein-4 proteasepregnancy-associated plasma protein A, pappalysin 1pappalysin-1IGF-dependent IGFBP-4 proteaseaspecific BCL2 ARE-binding protein 2differentially placenta 1 expressed proteininsulin-like growth factor-dependent IGF binding protein-4 proteasepregnancy-associated plasma protein A, pappalysin 1
Modification date2020031320200313
UniProtAcc.

PAPPA2

Ensembl transtripts involved in fusion geneENST00000328252, ENST00000534838, 
ENST00000483254, 		ENST00000328252, 
ENST00000534838, ENST00000483254, 
Fusion gene scores* DoF score9 X 12 X 1=10811 X 14 X 1=154
# samples 1214
** MAII scorelog2(12/108*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(14/154*10)=-0.137503523749935
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PAPPA [Title/Abstract] AND PAPPA [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPAPPA(118926976)-PAPPA(118927054), # samples:2
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

check buttonFusion gene breakpoints across PAPPA (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 PAPPA (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/ABF367809PAPPAchr9

118926976

+PAPPAchr9

118927054

-
ChiTaRS5.0N/ABF367810PAPPAchr9

118926976

+PAPPAchr9

118927054

-
ChiTaRS5.0N/ABF994661PAPPAchr9

118970009

-PAPPAchr9

118970332

+
ChiTaRS5.0N/ABP320564PAPPAchr9

119099490

+PAPPAchr9

118989791

+
ChiTaRS5.0N/ACV404853PAPPAchr9

118966133

+PAPPAchr9

118965521

+


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Fusion Gene ORF analysis for PAPPA-PAPPA

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
intron-intronENST00000328252ENST00000328252PAPPAchr9

118926976

+PAPPAchr9

118927054

-
intron-intronENST00000328252ENST00000534838PAPPAchr9

118926976

+PAPPAchr9

118927054

-
intron-intronENST00000328252ENST00000483254PAPPAchr9

118926976

+PAPPAchr9

118927054

-
intron-intronENST00000534838ENST00000328252PAPPAchr9

118926976

+PAPPAchr9

118927054

-
intron-intronENST00000534838ENST00000534838PAPPAchr9

118926976

+PAPPAchr9

118927054

-
intron-intronENST00000534838ENST00000483254PAPPAchr9

118926976

+PAPPAchr9

118927054

-
intron-intronENST00000483254ENST00000328252PAPPAchr9

118926976

+PAPPAchr9

118927054

-
intron-intronENST00000483254ENST00000534838PAPPAchr9

118926976

+PAPPAchr9

118927054

-
intron-intronENST00000483254ENST00000483254PAPPAchr9

118926976

+PAPPAchr9

118927054

-
intron-intronENST00000328252ENST00000328252PAPPAchr9

118970009

-PAPPAchr9

118970332

+
intron-intronENST00000328252ENST00000534838PAPPAchr9

118970009

-PAPPAchr9

118970332

+
intron-intronENST00000328252ENST00000483254PAPPAchr9

118970009

-PAPPAchr9

118970332

+
intron-intronENST00000534838ENST00000328252PAPPAchr9

118970009

-PAPPAchr9

118970332

+
intron-intronENST00000534838ENST00000534838PAPPAchr9

118970009

-PAPPAchr9

118970332

+
intron-intronENST00000534838ENST00000483254PAPPAchr9

118970009

-PAPPAchr9

118970332

+
intron-intronENST00000483254ENST00000328252PAPPAchr9

118970009

-PAPPAchr9

118970332

+
intron-intronENST00000483254ENST00000534838PAPPAchr9

118970009

-PAPPAchr9

118970332

+
intron-intronENST00000483254ENST00000483254PAPPAchr9

118970009

-PAPPAchr9

118970332

+
intron-3CDSENST00000328252ENST00000328252PAPPAchr9

119099490

+PAPPAchr9

118989791

+
intron-intronENST00000328252ENST00000534838PAPPAchr9

119099490

+PAPPAchr9

118989791

+
intron-intronENST00000328252ENST00000483254PAPPAchr9

119099490

+PAPPAchr9

118989791

+
intron-3CDSENST00000534838ENST00000328252PAPPAchr9

119099490

+PAPPAchr9

118989791

+
intron-intronENST00000534838ENST00000534838PAPPAchr9

119099490

+PAPPAchr9

118989791

+
intron-intronENST00000534838ENST00000483254PAPPAchr9

119099490

+PAPPAchr9

118989791

+
intron-3CDSENST00000483254ENST00000328252PAPPAchr9

119099490

+PAPPAchr9

118989791

+
intron-intronENST00000483254ENST00000534838PAPPAchr9

119099490

+PAPPAchr9

118989791

+
intron-intronENST00000483254ENST00000483254PAPPAchr9

119099490

+PAPPAchr9

118989791

+
intron-intronENST00000328252ENST00000328252PAPPAchr9

118966133

+PAPPAchr9

118965521

+
intron-intronENST00000328252ENST00000534838PAPPAchr9

118966133

+PAPPAchr9

118965521

+
intron-intronENST00000328252ENST00000483254PAPPAchr9

118966133

+PAPPAchr9

118965521

+
intron-intronENST00000534838ENST00000328252PAPPAchr9

118966133

+PAPPAchr9

118965521

+
intron-intronENST00000534838ENST00000534838PAPPAchr9

118966133

+PAPPAchr9

118965521

+
intron-intronENST00000534838ENST00000483254PAPPAchr9

118966133

+PAPPAchr9

118965521

+
intron-intronENST00000483254ENST00000328252PAPPAchr9

118966133

+PAPPAchr9

118965521

+
intron-intronENST00000483254ENST00000534838PAPPAchr9

118966133

+PAPPAchr9

118965521

+
intron-intronENST00000483254ENST00000483254PAPPAchr9

118966133

+PAPPAchr9

118965521

+

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 PAPPA-PAPPA


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 PAPPA-PAPPA


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.PAPPA

PAPPA2

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.1791

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 PAPPA-PAPPA


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 PAPPA-PAPPA


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 PAPPA-PAPPA


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 PAPPA-PAPPA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePAPPAC0002965Angina, Unstable1CTD_human
HgenePAPPAC0010054Coronary Arteriosclerosis1CTD_human
HgenePAPPAC0014175Endometriosis1CTD_human
HgenePAPPAC0021361Female infertility1CTD_human
HgenePAPPAC0027051Myocardial Infarction1CTD_human
HgenePAPPAC0038279Sterility, Postpartum1CTD_human
HgenePAPPAC0086666Myocardial Preinfarction Syndrome1CTD_human
HgenePAPPAC0269102Endometrioma1CTD_human
HgenePAPPAC0341869Subfertility, Female1CTD_human
HgenePAPPAC0917730Female sterility1CTD_human
HgenePAPPAC0948089Acute Coronary Syndrome1CTD_human
HgenePAPPAC1956346Coronary Artery Disease1CTD_human
TgenePAPPAC0002965Angina, Unstable1CTD_human
TgenePAPPAC0010054Coronary Arteriosclerosis1CTD_human
TgenePAPPAC0014175Endometriosis1CTD_human
TgenePAPPAC0021361Female infertility1CTD_human
TgenePAPPAC0027051Myocardial Infarction1CTD_human
TgenePAPPAC0038279Sterility, Postpartum1CTD_human
TgenePAPPAC0086666Myocardial Preinfarction Syndrome1CTD_human
TgenePAPPAC0269102Endometrioma1CTD_human
TgenePAPPAC0341869Subfertility, Female1CTD_human
TgenePAPPAC0917730Female sterility1CTD_human
TgenePAPPAC0948089Acute Coronary Syndrome1CTD_human
TgenePAPPAC1956346Coronary Artery Disease1CTD_human