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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: 3019

FusionGeneSummary for ASPH_PAPPA

check button Fusion gene summary
Fusion gene informationFusion gene name: ASPH_PAPPA
Fusion gene ID: 3019
HgeneTgene
Gene symbol

ASPH

PAPPA

Gene ID

444

5069

Gene nameaspartate beta-hydroxylasepappalysin 1
SynonymsAAH|BAH|CASQ2BP1|FDLAB|HAAH|JCTN|junctinASBABP2|DIPLA1|IGFBP-4ase|PAPA|PAPP-A|PAPPA1
Cytomap

8q12.3

9q33.1

Type of geneprotein-codingprotein-coding
Descriptionaspartyl/asparaginyl beta-hydroxylaseA beta H-J-JASP beta-hydroxylasecardiac junctinhumbugjunctatepeptide-aspartate beta-dioxygenasepappalysin-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 date2018051920180519
UniProtAcc

Q12797

Q13219

Ensembl transtripts involved in fusion geneENST00000541428, ENST00000379454, 
ENST00000523897, ENST00000522919, 
ENST00000356457, ENST00000518068, 
ENST00000517903, ENST00000445642, 
ENST00000517847, ENST00000522835, 
ENST00000517856, ENST00000389204, 
ENST00000522603, ENST00000379449, 
ENST00000517661, 
ENST00000328252, 
ENST00000534838, ENST00000483254, 
Fusion gene scores* DoF score11 X 9 X 6=59412 X 16 X 1=192
# samples 1219
** MAII scorelog2(12/594*10)=-2.30742852519225
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(19/192*10)=-0.0151068923902084
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ASPH [Title/Abstract] AND PAPPA [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
HgeneASPH

GO:0045862

positive regulation of proteolysis

18387192

HgeneASPH

GO:0097202

activation of cysteine-type endopeptidase activity

18387192


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
ChiTaRS3.1W31324ASPHchr8

62537289

+PAPPAchr9

119162163

-
* 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
intron-3UTRENST00000541428ENST00000328252ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-intronENST00000541428ENST00000534838ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-intronENST00000541428ENST00000483254ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-3UTRENST00000379454ENST00000328252ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-intronENST00000379454ENST00000534838ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-intronENST00000379454ENST00000483254ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-3UTRENST00000523897ENST00000328252ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-intronENST00000523897ENST00000534838ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-intronENST00000523897ENST00000483254ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-3UTRENST00000522919ENST00000328252ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-intronENST00000522919ENST00000534838ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-intronENST00000522919ENST00000483254ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-3UTRENST00000356457ENST00000328252ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-intronENST00000356457ENST00000534838ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-intronENST00000356457ENST00000483254ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-3UTRENST00000518068ENST00000328252ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-intronENST00000518068ENST00000534838ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-intronENST00000518068ENST00000483254ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-3UTRENST00000517903ENST00000328252ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-intronENST00000517903ENST00000534838ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-intronENST00000517903ENST00000483254ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-3UTRENST00000445642ENST00000328252ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-intronENST00000445642ENST00000534838ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-intronENST00000445642ENST00000483254ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-3UTRENST00000517847ENST00000328252ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-intronENST00000517847ENST00000534838ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-intronENST00000517847ENST00000483254ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-3UTRENST00000522835ENST00000328252ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-intronENST00000522835ENST00000534838ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-intronENST00000522835ENST00000483254ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-3UTRENST00000517856ENST00000328252ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-intronENST00000517856ENST00000534838ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-intronENST00000517856ENST00000483254ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-3UTRENST00000389204ENST00000328252ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-intronENST00000389204ENST00000534838ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-intronENST00000389204ENST00000483254ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-3UTRENST00000522603ENST00000328252ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-intronENST00000522603ENST00000534838ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-intronENST00000522603ENST00000483254ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-3UTRENST00000379449ENST00000328252ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-intronENST00000379449ENST00000534838ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-intronENST00000379449ENST00000483254ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-3UTRENST00000517661ENST00000328252ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-intronENST00000517661ENST00000534838ASPHchr8

62537289

+PAPPAchr9

119162163

-
intron-intronENST00000517661ENST00000483254ASPHchr8

62537289

+PAPPAchr9

119162163

-

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FusionProtFeatures for ASPH_PAPPA


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

Q12797

PAPPA

Q13219

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 ASPH_PAPPA


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 ASPH_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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RelatedDrugs for ASPH_PAPPA


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 ASPH_PAPPA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneASPHC1832167Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism1ORPHANET;UNIPROT
TgenePAPPAC0002965Angina, Unstable1CTD_human
TgenePAPPAC0014175Endometriosis1CTD_human
TgenePAPPAC0021361Female infertility1CTD_human
TgenePAPPAC0027051Myocardial Infarction1CTD_human
TgenePAPPAC0948089Acute Coronary Syndrome1CTD_human
TgenePAPPAC1956346Coronary Artery Disease1CTD_human