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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: 3773

FusionGeneSummary for BACE2_SRGAP1

check button Fusion gene summary
Fusion gene informationFusion gene name: BACE2_SRGAP1
Fusion gene ID: 3773
HgeneTgene
Gene symbol

BACE2

SRGAP1

Gene ID

25825

57522

Gene namebeta-secretase 2SLIT-ROBO Rho GTPase activating protein 1
SynonymsAEPLC|ALP56|ASP1|ASP21|BAE2|CDA13|CEAP1|DRAPARHGAP13|NMTC2
Cytomap

21q22.2-q22.3

12q14.2

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 aspSLIT-ROBO Rho GTPase-activating protein 1rho GTPase-activating protein 13
Modification date2018052320180523
UniProtAcc

Q9Y5Z0

Q7Z6B7

Ensembl transtripts involved in fusion geneENST00000328735, ENST00000330333, 
ENST00000347667, ENST00000466122, 
ENST00000355086, ENST00000357825, 
ENST00000543397, 
Fusion gene scores* DoF score8 X 6 X 5=2409 X 4 X 4=144
# samples 109
** MAII scorelog2(10/240*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/144*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BACE2 [Title/Abstract] AND SRGAP1 [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
HgeneBACE2

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
TCGARVCESCTCGA-EK-A2PM-01ABACE2chr21

42540502

+SRGAP1chr12

64377727

+
* 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
Frame-shiftENST00000328735ENST00000355086BACE2chr21

42540502

+SRGAP1chr12

64377727

+
Frame-shiftENST00000328735ENST00000357825BACE2chr21

42540502

+SRGAP1chr12

64377727

+
5CDS-5UTRENST00000328735ENST00000543397BACE2chr21

42540502

+SRGAP1chr12

64377727

+
Frame-shiftENST00000330333ENST00000355086BACE2chr21

42540502

+SRGAP1chr12

64377727

+
Frame-shiftENST00000330333ENST00000357825BACE2chr21

42540502

+SRGAP1chr12

64377727

+
5CDS-5UTRENST00000330333ENST00000543397BACE2chr21

42540502

+SRGAP1chr12

64377727

+
Frame-shiftENST00000347667ENST00000355086BACE2chr21

42540502

+SRGAP1chr12

64377727

+
Frame-shiftENST00000347667ENST00000357825BACE2chr21

42540502

+SRGAP1chr12

64377727

+
5CDS-5UTRENST00000347667ENST00000543397BACE2chr21

42540502

+SRGAP1chr12

64377727

+
intron-3CDSENST00000466122ENST00000355086BACE2chr21

42540502

+SRGAP1chr12

64377727

+
intron-3CDSENST00000466122ENST00000357825BACE2chr21

42540502

+SRGAP1chr12

64377727

+
intron-5UTRENST00000466122ENST00000543397BACE2chr21

42540502

+SRGAP1chr12

64377727

+

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FusionProtFeatures for BACE2_SRGAP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BACE2

Q9Y5Z0

SRGAP1

Q7Z6B7

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}. GTPase-activating protein for RhoA and Cdc42 smallGTPases. Together with CDC42 seems to be involved in the pathwaymediating the repulsive signaling of Robo and Slit proteins inneuronal migration. SLIT2, probably through interaction withROBO1, increases the interaction of SRGAP1 with ROBO1 andinactivates CDC42. {ECO:0000269|PubMed:11672528}.

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 BACE2_SRGAP1


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 BACE2_SRGAP1


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
BACE2GGA1, GGA2, ATP1B3, TMEM30A, HLA-E, MPPE1, ST8SIA4, CHST6, TCTN2, CD1E, CLEC2D, TMPRSS11B, IFNE, ARSG, CD97, TRIM25SRGAP1RHOA, ELAVL1, SH3KBP1, FASLG, CDK8, RAD18, SKA1, TRIM25


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 BACE2_SRGAP1


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 BACE2_SRGAP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSRGAP1C4225426THYROID CANCER, NONMEDULLARY, 21UNIPROT