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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 25933

FusionGeneSummary for PAPPA_DTWD2

check button Fusion gene summary
Fusion gene informationFusion gene name: PAPPA_DTWD2
Fusion gene ID: 25933
HgeneTgene
Gene symbol

PAPPA

DTWD2

Gene ID

5069

285605

Gene namepappalysin 1DTW domain containing 2
SynonymsASBABP2|DIPLA1|IGFBP-4ase|PAPA|PAPP-A|PAPPA1-
Cytomap

9q33.1

5q23.1

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 1DTW domain-containing protein 2
Modification date2018051920180519
UniProtAcc

Q13219

Q8NBA8

Ensembl transtripts involved in fusion geneENST00000328252, ENST00000534838, 
ENST00000483254, 
ENST00000304058, 
ENST00000510708, ENST00000515439, 
Fusion gene scores* DoF score12 X 16 X 1=1927 X 6 X 4=168
# samples 187
** MAII scorelog2(18/192*10)=-0.0931094043914815
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: PAPPA [Title/Abstract] AND DTWD2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BG261136PAPPAchr9

119161041

-DTWD2chr5

118309671

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-intronENST00000328252ENST00000304058PAPPAchr9

119161041

-DTWD2chr5

118309671

+
3UTR-intronENST00000328252ENST00000510708PAPPAchr9

119161041

-DTWD2chr5

118309671

+
3UTR-intronENST00000328252ENST00000515439PAPPAchr9

119161041

-DTWD2chr5

118309671

+
intron-intronENST00000534838ENST00000304058PAPPAchr9

119161041

-DTWD2chr5

118309671

+
intron-intronENST00000534838ENST00000510708PAPPAchr9

119161041

-DTWD2chr5

118309671

+
intron-intronENST00000534838ENST00000515439PAPPAchr9

119161041

-DTWD2chr5

118309671

+
intron-intronENST00000483254ENST00000304058PAPPAchr9

119161041

-DTWD2chr5

118309671

+
intron-intronENST00000483254ENST00000510708PAPPAchr9

119161041

-DTWD2chr5

118309671

+
intron-intronENST00000483254ENST00000515439PAPPAchr9

119161041

-DTWD2chr5

118309671

+

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FusionProtFeatures for PAPPA_DTWD2


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

Q13219

DTWD2

Q8NBA8

Metalloproteinase which specifically cleaves IGFBP-4 andIGFBP-5, resulting in release of bound IGF. Cleavage of IGFBP-4 isdramatically enhanced by the presence of IGF, whereas cleavage ofIGFBP-5 is slightly inhibited by the presence of IGF.{ECO:0000269|PubMed:10077652, ECO:0000269|PubMed:10913121,ECO:0000269|PubMed:11522292}.

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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FusionGeneSequence for PAPPA_DTWD2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for PAPPA_DTWD2


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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RelatedDrugs for PAPPA_DTWD2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for PAPPA_DTWD2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePAPPAC0002965Angina, Unstable1CTD_human
HgenePAPPAC0014175Endometriosis1CTD_human
HgenePAPPAC0021361Female infertility1CTD_human
HgenePAPPAC0027051Myocardial Infarction1CTD_human
HgenePAPPAC0948089Acute Coronary Syndrome1CTD_human
HgenePAPPAC1956346Coronary Artery Disease1CTD_human