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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: 26046

FusionGeneSummary for PARVA_BACE2

check button Fusion gene summary
Fusion gene informationFusion gene name: PARVA_BACE2
Fusion gene ID: 26046
HgeneTgene
Gene symbol

PARVA

BACE2

Gene ID

55742

25825

Gene nameparvin alphabeta-secretase 2
SynonymsCH-ILKBP|MXRA2AEPLC|ALP56|ASP1|ASP21|BAE2|CDA13|CEAP1|DRAP
Cytomap

11p15.3

21q22.2-q22.3

Type of geneprotein-codingprotein-coding
Descriptionalpha-parvinactopaxincalponin-like integrin-linked kinase-binding proteinmatrix-remodeling-associated protein 2beta-secretase 256 kDa aspartic-like proteaseDown syndrome region aspartic proteaseSLCO3A1/BACE2 fusionaspartyl protease 1beta-site APP-cleaving enzyme 2beta-site amyloid beta A4 precursor protein-cleaving enzyme 2memapsin-1membrane-associated asp
Modification date2018052320180523
UniProtAcc

Q9NVD7

Q9Y5Z0

Ensembl transtripts involved in fusion geneENST00000334956, ENST00000539723, 
ENST00000550549, ENST00000538608, 
ENST00000526746, 
ENST00000328735, 
ENST00000330333, ENST00000347667, 
ENST00000466122, 
Fusion gene scores* DoF score9 X 6 X 5=2706 X 4 X 5=120
# samples 96
** MAII scorelog2(9/270*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PARVA [Title/Abstract] AND BACE2 [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
TgeneBACE2

GO:0006509

membrane protein ectodomain proteolysis

10591213


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
ChiTaRS3.1AK027376PARVAchr11

12510710

+BACE2chr21

42609559

+
* 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-3CDSENST00000334956ENST00000328735PARVAchr11

12510710

+BACE2chr21

42609559

+
intron-3CDSENST00000334956ENST00000330333PARVAchr11

12510710

+BACE2chr21

42609559

+
intron-3CDSENST00000334956ENST00000347667PARVAchr11

12510710

+BACE2chr21

42609559

+
intron-3UTRENST00000334956ENST00000466122PARVAchr11

12510710

+BACE2chr21

42609559

+
intron-3CDSENST00000539723ENST00000328735PARVAchr11

12510710

+BACE2chr21

42609559

+
intron-3CDSENST00000539723ENST00000330333PARVAchr11

12510710

+BACE2chr21

42609559

+
intron-3CDSENST00000539723ENST00000347667PARVAchr11

12510710

+BACE2chr21

42609559

+
intron-3UTRENST00000539723ENST00000466122PARVAchr11

12510710

+BACE2chr21

42609559

+
intron-3CDSENST00000550549ENST00000328735PARVAchr11

12510710

+BACE2chr21

42609559

+
intron-3CDSENST00000550549ENST00000330333PARVAchr11

12510710

+BACE2chr21

42609559

+
intron-3CDSENST00000550549ENST00000347667PARVAchr11

12510710

+BACE2chr21

42609559

+
intron-3UTRENST00000550549ENST00000466122PARVAchr11

12510710

+BACE2chr21

42609559

+
intron-3CDSENST00000538608ENST00000328735PARVAchr11

12510710

+BACE2chr21

42609559

+
intron-3CDSENST00000538608ENST00000330333PARVAchr11

12510710

+BACE2chr21

42609559

+
intron-3CDSENST00000538608ENST00000347667PARVAchr11

12510710

+BACE2chr21

42609559

+
intron-3UTRENST00000538608ENST00000466122PARVAchr11

12510710

+BACE2chr21

42609559

+
intron-3CDSENST00000526746ENST00000328735PARVAchr11

12510710

+BACE2chr21

42609559

+
intron-3CDSENST00000526746ENST00000330333PARVAchr11

12510710

+BACE2chr21

42609559

+
intron-3CDSENST00000526746ENST00000347667PARVAchr11

12510710

+BACE2chr21

42609559

+
intron-3UTRENST00000526746ENST00000466122PARVAchr11

12510710

+BACE2chr21

42609559

+

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FusionProtFeatures for PARVA_BACE2


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

Q9NVD7

BACE2

Q9Y5Z0

Plays a role in sarcomere organization and in smoothmuscle cell contraction. Required for normal development of theembryonic cardiovascular system, and for normal septation of theheart outflow tract. Plays a role in sprouting angiogenesis and isrequired for normal adhesion of vascular smooth muscle cells toendothelial cells during blood vessel development (By similarity).Plays a role in the reorganization of the actin cytoskeleton,formation of lamellipodia and ciliogenesis. Plays a role in theestablishement of cell polarity, cell adhesion, cell spreading,and directed cell migration. {ECO:0000250,ECO:0000269|PubMed:11134073, ECO:0000269|PubMed:11331308,ECO:0000269|PubMed:15284246, ECO:0000269|PubMed:20393563}. Responsible for the proteolytic processing of theamyloid precursor protein (APP). Cleaves APP, between residues 690and 691, leading to the generation and extracellular release ofbeta-cleaved soluble APP, and a corresponding cell-associated C-terminal fragment which is later released by gamma-secretase. Ithas also been shown that it can cleave APP between residues 671and 672. {ECO:0000269|PubMed:10591213,ECO:0000269|PubMed:11083922, ECO:0000269|PubMed:11423558,ECO:0000269|PubMed:15857888, ECO:0000269|PubMed:16816112}.

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 PARVA_BACE2


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 PARVA_BACE2


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 PARVA_BACE2


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 PARVA_BACE2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePARVAC0236969Substance-Related Disorders1CTD_human