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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: 2121

FusionGeneSummary for APBA2_SOAT2

check button Fusion gene summary
Fusion gene informationFusion gene name: APBA2_SOAT2
Fusion gene ID: 2121
HgeneTgene
Gene symbol

APBA2

SOAT2

Gene ID

321

8435

Gene nameamyloid beta precursor protein binding family A member 2sterol O-acyltransferase 2
SynonymsD15S1518E|HsT16821|LIN-10|MGC:14091|MINT2|X11-BETA|X11LACACT2|ACAT2|ARGP2
Cytomap

15q13.1

12q13.13

Type of geneprotein-codingprotein-coding
Descriptionamyloid-beta A4 precursor protein-binding family A member 2X11-like proteinadapter protein X11betaamyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)mint-2neuron-specific X11L proteinneuronal munc18-1-interacting protein 2phosterol O-acyltransferase 2ACAT-2acyl Co-A: cholesterol acyltransferase 2acyl coenzyme A:cholesterol acyltransferase 2acyl-CoA:cholesterol acyltransferase 2cholesterol acyltransferase 2
Modification date2018052320180523
UniProtAcc

Q99767

O75908

Ensembl transtripts involved in fusion geneENST00000561069, ENST00000558402, 
ENST00000558330, ENST00000411764, 
ENST00000558259, 
ENST00000301466, 
Fusion gene scores* DoF score4 X 3 X 3=362 X 2 X 2=8
# samples 42
** MAII scorelog2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/8*10)=1.32192809488736
Context

PubMed: APBA2 [Title/Abstract] AND SOAT2 [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
TgeneSOAT2

GO:0008203

cholesterol metabolic process

16647063

TgeneSOAT2

GO:0034435

cholesterol esterification

16647063


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
TCGARVSKCMTCGA-RP-A695-06AAPBA2chr15

29288009

+SOAT2chr12

53512674

+
* 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
5UTR-3CDSENST00000561069ENST00000301466APBA2chr15

29288009

+SOAT2chr12

53512674

+
5UTR-3CDSENST00000558402ENST00000301466APBA2chr15

29288009

+SOAT2chr12

53512674

+
5UTR-3CDSENST00000558330ENST00000301466APBA2chr15

29288009

+SOAT2chr12

53512674

+
5UTR-3CDSENST00000411764ENST00000301466APBA2chr15

29288009

+SOAT2chr12

53512674

+
5UTR-3CDSENST00000558259ENST00000301466APBA2chr15

29288009

+SOAT2chr12

53512674

+

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FusionProtFeatures for APBA2_SOAT2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
APBA2

Q99767

SOAT2

O75908

Putative function in synaptic vesicle exocytosis bybinding to STXBP1, an essential component of the synaptic vesicleexocytotic machinery. May modulate processing of the amyloid-betaprecursor protein (APP) and hence formation of APP-beta. Plays a role in lipoprotein assembly and dietarycholesterol absorption. In addition to its acyltransferaseactivity, it may act as a ligase. May provide cholesteryl estersfor lipoprotein secretion from hepatocytes and intestinal mucosa.

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 APBA2_SOAT2


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 APBA2_SOAT2


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
APBA2CLSTN1, APP, PSEN2, LRP2, LRP1, LRP8, NECAB3, RELA, USP20, MAPK6, STXBP1, APBA1, IQSEC2, KLRG2, TRIM41, TJAP1, IQSEC1, AAGAB, APEX2, BTRC, USP33, PLD1, FBXW11, DMWD, ZNF518A, DDX24, HERC2SOAT2BAG3


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 APBA2_SOAT2


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 APBA2_SOAT2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAPBA2C0036341Schizophrenia1PSYGENET