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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: 35338

FusionGeneSummary for SOAT1_AGAP2

check button Fusion gene summary
Fusion gene informationFusion gene name: SOAT1_AGAP2
Fusion gene ID: 35338
HgeneTgene
Gene symbol

SOAT1

AGAP2

Gene ID

6646

116986

Gene namesterol O-acyltransferase 1ArfGAP with GTPase domain, ankyrin repeat and PH domain 2
SynonymsACACT|ACAT|ACAT-1|ACAT1|SOAT|STATCENTG1|GGAP2|PIKE
Cytomap

1q25.2

12q14.1

Type of geneprotein-codingprotein-coding
Descriptionsterol O-acyltransferase 1acyl-coenzyme A:cholesterol acyltransferase 1sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2Arf GAP with GTP-binding protein-like, ANK repeat and PH domains 2GTP-binding and GTPase activating protein 2centaurin, gamma 1cnt-g1phosphatidylinositol 3-kinase enhancerphosphoinosi
Modification date2018052320180523
UniProtAcc

P35610

Q99490

Ensembl transtripts involved in fusion geneENST00000539888, ENST00000535686, 
ENST00000540564, ENST00000367619, 
ENST00000257897, ENST00000547588, 
Fusion gene scores* DoF score2 X 2 X 2=85 X 4 X 2=40
# samples 25
** MAII scorelog2(2/8*10)=1.32192809488736log2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SOAT1 [Title/Abstract] AND AGAP2 [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
HgeneSOAT1

GO:0008203

cholesterol metabolic process

9756919|16647063

HgeneSOAT1

GO:0034435

cholesterol esterification

16647063

TgeneAGAP2

GO:0042177

negative regulation of protein catabolic process

18374643


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-A2J0-01ASOAT1chr1

179316832

+AGAP2chr12

58129210

-
* 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-shitENST00000539888ENST00000257897SOAT1chr1

179316832

+AGAP2chr12

58129210

-
Frame-shitENST00000539888ENST00000547588SOAT1chr1

179316832

+AGAP2chr12

58129210

-
Frame-shitENST00000535686ENST00000257897SOAT1chr1

179316832

+AGAP2chr12

58129210

-
Frame-shitENST00000535686ENST00000547588SOAT1chr1

179316832

+AGAP2chr12

58129210

-
Frame-shitENST00000540564ENST00000257897SOAT1chr1

179316832

+AGAP2chr12

58129210

-
Frame-shitENST00000540564ENST00000547588SOAT1chr1

179316832

+AGAP2chr12

58129210

-
Frame-shitENST00000367619ENST00000257897SOAT1chr1

179316832

+AGAP2chr12

58129210

-
Frame-shitENST00000367619ENST00000547588SOAT1chr1

179316832

+AGAP2chr12

58129210

-

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FusionProtFeatures for SOAT1_AGAP2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SOAT1

P35610

AGAP2

Q99490

Catalyzes the formation of fatty acid-cholesterolesters, which are less soluble in membranes than cholesterol.Plays a role in lipoprotein assembly and dietary cholesterolabsorption. In addition to its acyltransferase activity, it mayact as a ligase. GTPase-activating protein (GAP) for ARF1 and ARF5, whichalso shows strong GTPase activity. Isoform 1 participates in theprevention of neuronal apoptosis by enhancing PI3 kinase activity.It aids the coupling of metabotropic glutamate receptor 1 (GRM1)to cytoplasmic PI3 kinase by interacting with Homer scaffoldingproteins, and also seems to mediate anti-apoptotic effects of NGFby activating nuclear PI3 kinase. Isoform 2 does not stimulate PI3kinase but may protect cells from apoptosis by stimulating Akt. Italso regulates the adapter protein 1 (AP-1)-dependent traffickingof proteins in the endosomal system. It seems to be oncogenic. Itis overexpressed in cancer cells, prevents apoptosis and promotescancer cell invasion. {ECO:0000269|PubMed:12640130,ECO:0000269|PubMed:14761976, ECO:0000269|PubMed:15118108,ECO:0000269|PubMed:16079295}.

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 SOAT1_AGAP2


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 SOAT1_AGAP2


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
SOAT1TERF1, SLC25A10, ILF2, FAM187B, POPDC2, TSPAN5, ASGR2, PEX19, PTH1R, FAM189A2, ZACN, LYPD6, TCTN2, TCTN3, CNTRL, EVC2, TMEM17, TMEM216, CLTC, PKN2, RAB2A, RAB5C, RAB7A, RAB11A, VAPA, PDLIM7, KATNA1, GOLT1B, TMEM63B, PCDHB15, UBIAD1, EYA3, EYA4, MTM1, MTMR14, MTMR6, MTMR7, MTMR8, SEMA7A, C9orf41, ADAM33, RNF11, TMPRSS12, UPK1A, RTN4R, SMPD3, YIPF3, TMEM128, VNN2, GPR114, NDUFS1, ACAP2, NDUFA9, PIGS, MBOAT7, EHBP1, GDI1, GPAA1, UQCRC1, STOM, MKLN1, DCD, TXN, FLOT2, ANXA2, ALYREF, HSPE1, PPM1B, CHMP4B, DSP, SLC25A4, PFN1, DSG1, SLC25A5, VDAC1, VDAC2, ARF1, PPIA, BANF1, RPL27, H1FX, TPI1, EMD, SCYL2, GFAP, SERBP1, COX7A2, MDH2, TOMM22, MOB2, CHTOP, SLC25A3, ATAD3A, YWHAZ, VDAC3, PDHB, PRDX3, JUP, STOML2, PPM1A, COX2, FBL, EIF5A, HRNR, TPM1, YWHAE, YWHAB, MRPL12, COX4I1, TRAP1, RPL28, LDHB, ATP5C1, UQCRC2, NDUFA5, FLG2, CANX, PRDX6, ATP5J2, PPIAL4B, SLC25A6, LDHA, BSG, SFXN1, RBMXL2, NDUFS3, SET, SHMT2, PIP5K1C, ERLIN2, NME1, IARS, NDUFA10, ALDOA, SLC16A1, EPRS, YWHAQ, CKB, PYCR1, DKC1, MARCKSL1, EEF1E1, ETFA, HSP90B1, NAP1L1, SLC25A13, RANBP1, SLC3A2, EEF1G, OAT, DLD, AIFM1, EEF2, TKT, RARS, ATAD3B, IDH2, TECR, RTCB, PDCD6IP, MYH11, RPN2, GANAB, PDIA3, KPNB1, GART, BOLA2, BOLA2B, TRIM25AGAP2HOMER1, EPB41L1, PIK3R1, NF2, MPRIP, GRIP1, GRIA2, CDC42, RAC1, RAC2, RHOA, ARF1, AKT1


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 SOAT1_AGAP2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneSOAT1P35610DB00973EzetimibeSterol O-acyltransferase 1small moleculeapproved

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RelatedDiseases for SOAT1_AGAP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSOAT1C0023893Liver Cirrhosis, Experimental1CTD_human