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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: 3774

FusionGeneSummary for BACE2_TACR1

check button Fusion gene summary
Fusion gene informationFusion gene name: BACE2_TACR1
Fusion gene ID: 3774
HgeneTgene
Gene symbol

BACE2

TACR1

Gene ID

25825

6869

Gene namebeta-secretase 2tachykinin receptor 1
SynonymsAEPLC|ALP56|ASP1|ASP21|BAE2|CDA13|CEAP1|DRAPNK1R|NKIR|SPR|TAC1R
Cytomap

21q22.2-q22.3

2p12

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 aspsubstance-P receptorNK-1 receptorNK-1Rtachykinin receptor 1 (substance P receptor; neurokinin-1 receptor)
Modification date2018052320180523
UniProtAcc

Q9Y5Z0

P25103

Ensembl transtripts involved in fusion geneENST00000328735, ENST00000330333, 
ENST00000347667, ENST00000466122, 
ENST00000305249, ENST00000409848, 
ENST00000497764, 
Fusion gene scores* DoF score8 X 6 X 5=2403 X 3 X 3=27
# samples 103
** MAII scorelog2(10/240*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: BACE2 [Title/Abstract] AND TACR1 [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

TgeneTACR1

GO:0007204

positive regulation of cytosolic calcium ion concentration

12716968

TgeneTACR1

GO:0007217

tachykinin receptor signaling pathway

17986524


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
TCGARVSARCTCGA-DX-A23R-01ABACE2chr21

42629253

+TACR1chr2

75278574

-
* 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-3CDSENST00000328735ENST00000305249BACE2chr21

42629253

+TACR1chr2

75278574

-
intron-3CDSENST00000328735ENST00000409848BACE2chr21

42629253

+TACR1chr2

75278574

-
intron-intronENST00000328735ENST00000497764BACE2chr21

42629253

+TACR1chr2

75278574

-
Frame-shitENST00000330333ENST00000305249BACE2chr21

42629253

+TACR1chr2

75278574

-
Frame-shitENST00000330333ENST00000409848BACE2chr21

42629253

+TACR1chr2

75278574

-
5CDS-intronENST00000330333ENST00000497764BACE2chr21

42629253

+TACR1chr2

75278574

-
Frame-shitENST00000347667ENST00000305249BACE2chr21

42629253

+TACR1chr2

75278574

-
Frame-shitENST00000347667ENST00000409848BACE2chr21

42629253

+TACR1chr2

75278574

-
5CDS-intronENST00000347667ENST00000497764BACE2chr21

42629253

+TACR1chr2

75278574

-
3UTR-3CDSENST00000466122ENST00000305249BACE2chr21

42629253

+TACR1chr2

75278574

-
3UTR-3CDSENST00000466122ENST00000409848BACE2chr21

42629253

+TACR1chr2

75278574

-
3UTR-intronENST00000466122ENST00000497764BACE2chr21

42629253

+TACR1chr2

75278574

-

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FusionProtFeatures for BACE2_TACR1


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

Q9Y5Z0

TACR1

P25103

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}. This is a receptor for the tachykinin neuropeptidesubstance P. It is probably associated with G proteins thatactivate a phosphatidylinositol-calcium second messenger system.The rank order of affinity of this receptor to tachykinins is:substance P > substance K > neuromedin-K.

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_TACR1


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_TACR1


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, TRIM25TACR1TAC1, GRK5, TAC4, RDH14, CAV1, FADS1, SLMAP, NDUFB8, PKP2, ARVCF, COX1, GPR89A, ARL6IP5, ATP8, MFSD5, NDUFS6, LPCAT3, ND5, ATP12A, KIAA1715, ND4, NDUFB5, PKP4, STX4, ADIPOR1, YIPF3, ND1, CERS2, GPRC5C, SYNGR2, ATP5B, TSPAN3, SLC25A46, KIRREL, FAM213A, TSPAN15, ATP5F1, TMEM164, NDUFC2, RGPD2, GOLGA5, LMBRD2, GPR50, ATP5H, LMBR1, PTPLB


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_TACR1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneTACR1P25103DB00673AprepitantSubstance-P receptorsmall moleculeapproved|investigational
TgeneTACR1P25103DB04894VapreotideSubstance-P receptorsmall moleculeapproved|investigational
TgeneTACR1P25103DB01221KetamineSubstance-P receptorsmall moleculeapproved|vet_approved

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RelatedDiseases for BACE2_TACR1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneTACR1C0001973Alcoholic Intoxication, Chronic5CTD_human;PSYGENET
TgeneTACR1C0011570Mental Depression5PSYGENET
TgeneTACR1C0011581Depressive disorder5PSYGENET
TgeneTACR1C0525045Mood Disorders5PSYGENET
TgeneTACR1C0005586Bipolar Disorder3CTD_human;PSYGENET
TgeneTACR1C0020429Hyperalgesia2CTD_human
TgeneTACR1C0600467Neurogenic Inflammation2CTD_human
TgeneTACR1C0006261Bronchial Diseases1CTD_human
TgeneTACR1C0020538Hypertensive disease1CTD_human
TgeneTACR1C0036341Schizophrenia1PSYGENET
TgeneTACR1C0038587Substance Withdrawal Syndrome1CTD_human
TgeneTACR1C0042963Vomiting1CTD_human
TgeneTACR1C0428977Bradycardia1CTD_human
TgeneTACR1C1263846Attention deficit hyperactivity disorder1CTD_human