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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: 351

FusionGeneSummary for ACAP2_SOX2-OT

check button Fusion gene summary
Fusion gene informationFusion gene name: ACAP2_SOX2-OT
Fusion gene ID: 351
HgeneTgene
Gene symbol

ACAP2

SOX2-OT

Gene ID

23527

347689

Gene nameArfGAP with coiled-coil, ankyrin repeat and PH domains 2SOX2 overlapping transcript
SynonymsCENTB2|CNT-B2NCRNA00043|SOX2OT
Cytomap

3q29

3q26.33

Type of geneprotein-codingncRNA
Descriptionarf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2Arf GAP with coiled coil, ANK repeat and PH domains 2centaurin-beta-2SOX2 overlapping transcript (non-coding RNA)SOX2 overlapping transcript (non-protein coding)
Modification date2018052320180329
UniProtAcc

Q15057

Ensembl transtripts involved in fusion geneENST00000326793, ENST00000472860, 
ENST00000410534, 
Fusion gene scores* DoF score9 X 7 X 10=63010 X 8 X 7=560
# samples 1310
** MAII scorelog2(13/630*10)=-2.27684020535882
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/560*10)=-2.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACAP2 [Title/Abstract] AND SOX2-OT [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

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
TCGALDSKCMTCGA-EE-A2MR-06AACAP2chr3

195053757

-SOX2-OTchr3

181508461

+
* 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
5CDS-intronENST00000326793ENST00000410534ACAP2chr3

195053757

-SOX2-OTchr3

181508461

+
intron-intronENST00000472860ENST00000410534ACAP2chr3

195053757

-SOX2-OTchr3

181508461

+

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FusionProtFeatures for ACAP2_SOX2-OT


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ACAP2

Q15057

SOX2-OT

GTPase-activating protein (GAP) for ADP ribosylationfactor 6 (ARF6). {ECO:0000269|PubMed:11062263}. Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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 ACAP2_SOX2-OT


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 ACAP2_SOX2-OT


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
ACAP2SMURF1, HSPB1, RAB11FIP3, MED4, PDK3, SOAT1, NDUFS1, NDUFA9, PIGS, MBOAT7, EHBP1, GDI1, GPAA1, CYLDSOX2-OT


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 ACAP2_SOX2-OT


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 ACAP2_SOX2-OT


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