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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:BACE2-WDR81 (FusionGDB2 ID:8897)

Fusion Gene Summary for BACE2-WDR81

check button Fusion gene summary
Fusion gene informationFusion gene name: BACE2-WDR81
Fusion gene ID: 8897
HgeneTgene
Gene symbol

BACE2

WDR81

Gene ID

25825

124997

Gene namebeta-secretase 2WD repeat domain 81
SynonymsAEPLC|ALP56|ASP1|ASP21|BAE2|CDA13|CEAP1|DRAPCAMRQ2|HYC3|PPP1R166|SORF-2
Cytomap

21q22.2-q22.3

17p13.3

Type of geneprotein-codingprotein-coding
Descriptionbeta-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 aspWD repeat-containing protein 81protein phosphatase 1, regulatory subunit 166
Modification date2020031320200320
UniProtAcc

Q9Y5Z0

.
Ensembl transtripts involved in fusion geneENST00000328735, ENST00000330333, 
ENST00000347667, ENST00000466122, 
ENST00000437219, ENST00000309182, 
ENST00000446363, ENST00000419248, 
ENST00000409644, ENST00000545662, 
Fusion gene scores* DoF score13 X 5 X 10=6504 X 5 X 4=80
# samples 155
** MAII scorelog2(15/650*10)=-2.11547721741994
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BACE2 [Title/Abstract] AND WDR81 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBACE2(42540502)-WDR81(1638866), # samples:2
Anticipated loss of major functional domain due to fusion event.BACE2-WDR81 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target 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
HgeneBACE2

GO:0006509

membrane protein ectodomain proteolysis

10591213

TgeneWDR81

GO:0010923

negative regulation of phosphatase activity

19389623


check buttonFusion gene breakpoints across BACE2 (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 WDR81 (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
ChimerDB4STADTCGA-BR-7901-01ABACE2chr21

42540502

+WDR81chr17

1638866

+
ChimerDB4STADTCGA-BR-7901BACE2chr21

42540502

+WDR81chr17

1638865

+
ChimerDB4STADTCGA-BR-7901-01ABACE2chr21

42540502

-WDR81chr17

1638866

+


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Fusion Gene ORF analysis for BACE2-WDR81

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
Frame-shiftENST00000328735ENST00000437219BACE2chr21

42540502

+WDR81chr17

1638866

+
Frame-shiftENST00000328735ENST00000309182BACE2chr21

42540502

+WDR81chr17

1638866

+
Frame-shiftENST00000328735ENST00000446363BACE2chr21

42540502

+WDR81chr17

1638866

+
Frame-shiftENST00000328735ENST00000419248BACE2chr21

42540502

+WDR81chr17

1638866

+
Frame-shiftENST00000328735ENST00000409644BACE2chr21

42540502

+WDR81chr17

1638866

+
Frame-shiftENST00000328735ENST00000545662BACE2chr21

42540502

+WDR81chr17

1638866

+
Frame-shiftENST00000330333ENST00000437219BACE2chr21

42540502

+WDR81chr17

1638866

+
Frame-shiftENST00000330333ENST00000309182BACE2chr21

42540502

+WDR81chr17

1638866

+
Frame-shiftENST00000330333ENST00000446363BACE2chr21

42540502

+WDR81chr17

1638866

+
Frame-shiftENST00000330333ENST00000419248BACE2chr21

42540502

+WDR81chr17

1638866

+
Frame-shiftENST00000330333ENST00000409644BACE2chr21

42540502

+WDR81chr17

1638866

+
Frame-shiftENST00000330333ENST00000545662BACE2chr21

42540502

+WDR81chr17

1638866

+
Frame-shiftENST00000347667ENST00000437219BACE2chr21

42540502

+WDR81chr17

1638866

+
Frame-shiftENST00000347667ENST00000309182BACE2chr21

42540502

+WDR81chr17

1638866

+
Frame-shiftENST00000347667ENST00000446363BACE2chr21

42540502

+WDR81chr17

1638866

+
Frame-shiftENST00000347667ENST00000419248BACE2chr21

42540502

+WDR81chr17

1638866

+
Frame-shiftENST00000347667ENST00000409644BACE2chr21

42540502

+WDR81chr17

1638866

+
Frame-shiftENST00000347667ENST00000545662BACE2chr21

42540502

+WDR81chr17

1638866

+
intron-3CDSENST00000466122ENST00000437219BACE2chr21

42540502

+WDR81chr17

1638866

+
intron-3CDSENST00000466122ENST00000309182BACE2chr21

42540502

+WDR81chr17

1638866

+
intron-3CDSENST00000466122ENST00000446363BACE2chr21

42540502

+WDR81chr17

1638866

+
intron-3CDSENST00000466122ENST00000419248BACE2chr21

42540502

+WDR81chr17

1638866

+
intron-3CDSENST00000466122ENST00000409644BACE2chr21

42540502

+WDR81chr17

1638866

+
intron-3CDSENST00000466122ENST00000545662BACE2chr21

42540502

+WDR81chr17

1638866

+
Frame-shiftENST00000328735ENST00000437219BACE2chr21

42540502

+WDR81chr17

1638865

+
Frame-shiftENST00000328735ENST00000309182BACE2chr21

42540502

+WDR81chr17

1638865

+
Frame-shiftENST00000328735ENST00000446363BACE2chr21

42540502

+WDR81chr17

1638865

+
Frame-shiftENST00000328735ENST00000419248BACE2chr21

42540502

+WDR81chr17

1638865

+
Frame-shiftENST00000328735ENST00000409644BACE2chr21

42540502

+WDR81chr17

1638865

+
Frame-shiftENST00000328735ENST00000545662BACE2chr21

42540502

+WDR81chr17

1638865

+
Frame-shiftENST00000330333ENST00000437219BACE2chr21

42540502

+WDR81chr17

1638865

+
Frame-shiftENST00000330333ENST00000309182BACE2chr21

42540502

+WDR81chr17

1638865

+
Frame-shiftENST00000330333ENST00000446363BACE2chr21

42540502

+WDR81chr17

1638865

+
Frame-shiftENST00000330333ENST00000419248BACE2chr21

42540502

+WDR81chr17

1638865

+
Frame-shiftENST00000330333ENST00000409644BACE2chr21

42540502

+WDR81chr17

1638865

+
Frame-shiftENST00000330333ENST00000545662BACE2chr21

42540502

+WDR81chr17

1638865

+
Frame-shiftENST00000347667ENST00000437219BACE2chr21

42540502

+WDR81chr17

1638865

+
Frame-shiftENST00000347667ENST00000309182BACE2chr21

42540502

+WDR81chr17

1638865

+
Frame-shiftENST00000347667ENST00000446363BACE2chr21

42540502

+WDR81chr17

1638865

+
Frame-shiftENST00000347667ENST00000419248BACE2chr21

42540502

+WDR81chr17

1638865

+
Frame-shiftENST00000347667ENST00000409644BACE2chr21

42540502

+WDR81chr17

1638865

+
Frame-shiftENST00000347667ENST00000545662BACE2chr21

42540502

+WDR81chr17

1638865

+
intron-3CDSENST00000466122ENST00000437219BACE2chr21

42540502

+WDR81chr17

1638865

+
intron-3CDSENST00000466122ENST00000309182BACE2chr21

42540502

+WDR81chr17

1638865

+
intron-3CDSENST00000466122ENST00000446363BACE2chr21

42540502

+WDR81chr17

1638865

+
intron-3CDSENST00000466122ENST00000419248BACE2chr21

42540502

+WDR81chr17

1638865

+
intron-3CDSENST00000466122ENST00000409644BACE2chr21

42540502

+WDR81chr17

1638865

+
intron-3CDSENST00000466122ENST00000545662BACE2chr21

42540502

+WDR81chr17

1638865

+

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 BACE2-WDR81


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)
BACE2chr2142540502+WDR81chr171638865+2.66E-050.9999734
BACE2chr2142540502+WDR81chr171638865+2.66E-050.9999734
BACE2chr2142540502+WDR81chr171638865+2.66E-050.9999734
BACE2chr2142540502+WDR81chr171638865+2.66E-050.9999734

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 BACE2-WDR81


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
BACE2

Q9Y5Z0

.
FUNCTION: Responsible for the proteolytic processing of the amyloid precursor protein (APP). Cleaves APP, between residues 690 and 691, leading to the generation and extracellular release of beta-cleaved soluble APP, and a corresponding cell-associated C-terminal fragment which is later released by gamma-secretase. It has also been shown that it can cleave APP between residues 671 and 672. Responsible also for the proteolytic processing of CLTRN in pancreatic beta cells (PubMed:21907142). {ECO:0000269|PubMed:10591213, ECO:0000269|PubMed:11083922, ECO:0000269|PubMed:11423558, ECO:0000269|PubMed:15857888, ECO:0000269|PubMed:16816112, ECO:0000269|PubMed:21907142}.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.
- 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 BACE2-WDR81


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 BACE2-WDR81


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 BACE2-WDR81


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 BACE2-WDR81


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneWDR81C2750234Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 23CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneWDR81C0020256Congenital Hydrocephalus1GENOMICS_ENGLAND
TgeneWDR81C0394006Dysequilibrium syndrome1ORPHANET
TgeneWDR81C4747885HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES1GENOMICS_ENGLAND;UNIPROT