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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: 41240

FusionGeneSummary for UTP14A_BACE2

check button Fusion gene summary
Fusion gene informationFusion gene name: UTP14A_BACE2
Fusion gene ID: 41240
HgeneTgene
Gene symbol

UTP14A

BACE2

Gene ID

10813

25825

Gene nameUTP14A, small subunit processome componentbeta-secretase 2
SynonymsNYCO16|SDCCAG16|Utp14|dJ537K23.3AEPLC|ALP56|ASP1|ASP21|BAE2|CDA13|CEAP1|DRAP
Cytomap

Xq26.1

21q22.2-q22.3

Type of geneprotein-codingprotein-coding
DescriptionU3 small nucleolar RNA-associated protein 14 homolog AUTP14, U3 small nucleolar ribonucleoprotein, homolog AUTP14A small subunit (SSU) processome componentantigen NY-CO-16serologically defined colon cancer antigen 16beta-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

Q9BVJ6

Q9Y5Z0

Ensembl transtripts involved in fusion geneENST00000425117, ENST00000394422, 
ENST00000371051, ENST00000371042, 
ENST00000498179, 
ENST00000328735, 
ENST00000330333, ENST00000347667, 
ENST00000466122, 
Fusion gene scores* DoF score2 X 2 X 1=46 X 4 X 5=120
# samples 26
** MAII scorelog2(2/4*10)=2.32192809488736log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: UTP14A [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
ChiTaRS3.1DA568103UTP14AchrX

129059088

+BACE2chr21

42598234

+
* 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
In-frameENST00000425117ENST00000328735UTP14AchrX

129059088

+BACE2chr21

42598234

+
In-frameENST00000425117ENST00000330333UTP14AchrX

129059088

+BACE2chr21

42598234

+
In-frameENST00000425117ENST00000347667UTP14AchrX

129059088

+BACE2chr21

42598234

+
5CDS-intronENST00000425117ENST00000466122UTP14AchrX

129059088

+BACE2chr21

42598234

+
In-frameENST00000394422ENST00000328735UTP14AchrX

129059088

+BACE2chr21

42598234

+
In-frameENST00000394422ENST00000330333UTP14AchrX

129059088

+BACE2chr21

42598234

+
In-frameENST00000394422ENST00000347667UTP14AchrX

129059088

+BACE2chr21

42598234

+
5CDS-intronENST00000394422ENST00000466122UTP14AchrX

129059088

+BACE2chr21

42598234

+
In-frameENST00000371051ENST00000328735UTP14AchrX

129059088

+BACE2chr21

42598234

+
In-frameENST00000371051ENST00000330333UTP14AchrX

129059088

+BACE2chr21

42598234

+
In-frameENST00000371051ENST00000347667UTP14AchrX

129059088

+BACE2chr21

42598234

+
5CDS-intronENST00000371051ENST00000466122UTP14AchrX

129059088

+BACE2chr21

42598234

+
In-frameENST00000371042ENST00000328735UTP14AchrX

129059088

+BACE2chr21

42598234

+
In-frameENST00000371042ENST00000330333UTP14AchrX

129059088

+BACE2chr21

42598234

+
In-frameENST00000371042ENST00000347667UTP14AchrX

129059088

+BACE2chr21

42598234

+
5CDS-intronENST00000371042ENST00000466122UTP14AchrX

129059088

+BACE2chr21

42598234

+
intron-3CDSENST00000498179ENST00000328735UTP14AchrX

129059088

+BACE2chr21

42598234

+
intron-3CDSENST00000498179ENST00000330333UTP14AchrX

129059088

+BACE2chr21

42598234

+
intron-3CDSENST00000498179ENST00000347667UTP14AchrX

129059088

+BACE2chr21

42598234

+
intron-intronENST00000498179ENST00000466122UTP14AchrX

129059088

+BACE2chr21

42598234

+

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FusionProtFeatures for UTP14A_BACE2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
UTP14A

Q9BVJ6

BACE2

Q9Y5Z0

May be required for ribosome biogenesis. {ECO:0000250}. 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 UTP14A_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 UTP14A_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 UTP14A_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 UTP14A_BACE2


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