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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: 347

FusionGeneSummary for ACAP2_DLG1

check button Fusion gene summary
Fusion gene informationFusion gene name: ACAP2_DLG1
Fusion gene ID: 347
HgeneTgene
Gene symbol

ACAP2

DLG1

Gene ID

23527

1739

Gene nameArfGAP with coiled-coil, ankyrin repeat and PH domains 2discs large MAGUK scaffold protein 1
SynonymsCENTB2|CNT-B2DLGH1|SAP-97|SAP97|dJ1061C18.1.1|hdlg
Cytomap

3q29

3q29

Type of geneprotein-codingprotein-coding
Descriptionarf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2Arf GAP with coiled coil, ANK repeat and PH domains 2centaurin-beta-2disks large homolog 1discs large homolog 1, scribble cell polarity complex componentdiscs, large homolog 1 transcript variant 6-v1discs, large homolog 1 transcript variant 6-v2presynaptic protein SAP97synapse-associated protein 97
Modification date2018052320180523
UniProtAcc

Q15057

Q12959

Ensembl transtripts involved in fusion geneENST00000326793, ENST00000472860, 
ENST00000357674, ENST00000314062, 
ENST00000346964, ENST00000419354, 
ENST00000452595, ENST00000422288, 
ENST00000448528, ENST00000443183, 
ENST00000450955, ENST00000392382, 
ENST00000485409, 
Fusion gene scores* DoF score9 X 7 X 10=6306 X 7 X 6=252
# samples 137
** MAII scorelog2(13/630*10)=-2.27684020535882
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/252*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACAP2 [Title/Abstract] AND DLG1 [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
TgeneDLG1

GO:0001935

endothelial cell proliferation

14699157

TgeneDLG1

GO:0007015

actin filament organization

14699157

TgeneDLG1

GO:0030866

cortical actin cytoskeleton organization

14699157

TgeneDLG1

GO:0042391

regulation of membrane potential

12970345

TgeneDLG1

GO:0043268

positive regulation of potassium ion transport

12970345

TgeneDLG1

GO:0070830

bicellular tight junction assembly

17332497

TgeneDLG1

GO:0098609

cell-cell adhesion

14699157

TgeneDLG1

GO:1903078

positive regulation of protein localization to plasma membrane

12970345


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
TCGARVLIHCTCGA-EP-A2KA-01AACAP2chr3

195112819

-DLG1chr3

196778539

-
* 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-shitENST00000326793ENST00000357674ACAP2chr3

195112819

-DLG1chr3

196778539

-
Frame-shitENST00000326793ENST00000314062ACAP2chr3

195112819

-DLG1chr3

196778539

-
Frame-shitENST00000326793ENST00000346964ACAP2chr3

195112819

-DLG1chr3

196778539

-
Frame-shitENST00000326793ENST00000419354ACAP2chr3

195112819

-DLG1chr3

196778539

-
Frame-shitENST00000326793ENST00000452595ACAP2chr3

195112819

-DLG1chr3

196778539

-
Frame-shitENST00000326793ENST00000422288ACAP2chr3

195112819

-DLG1chr3

196778539

-
Frame-shitENST00000326793ENST00000448528ACAP2chr3

195112819

-DLG1chr3

196778539

-
Frame-shitENST00000326793ENST00000443183ACAP2chr3

195112819

-DLG1chr3

196778539

-
Frame-shitENST00000326793ENST00000450955ACAP2chr3

195112819

-DLG1chr3

196778539

-
Frame-shitENST00000326793ENST00000392382ACAP2chr3

195112819

-DLG1chr3

196778539

-
5CDS-intronENST00000326793ENST00000485409ACAP2chr3

195112819

-DLG1chr3

196778539

-
intron-3CDSENST00000472860ENST00000357674ACAP2chr3

195112819

-DLG1chr3

196778539

-
intron-3CDSENST00000472860ENST00000314062ACAP2chr3

195112819

-DLG1chr3

196778539

-
intron-3CDSENST00000472860ENST00000346964ACAP2chr3

195112819

-DLG1chr3

196778539

-
intron-3CDSENST00000472860ENST00000419354ACAP2chr3

195112819

-DLG1chr3

196778539

-
intron-3CDSENST00000472860ENST00000452595ACAP2chr3

195112819

-DLG1chr3

196778539

-
intron-3CDSENST00000472860ENST00000422288ACAP2chr3

195112819

-DLG1chr3

196778539

-
intron-3CDSENST00000472860ENST00000448528ACAP2chr3

195112819

-DLG1chr3

196778539

-
intron-3CDSENST00000472860ENST00000443183ACAP2chr3

195112819

-DLG1chr3

196778539

-
intron-3CDSENST00000472860ENST00000450955ACAP2chr3

195112819

-DLG1chr3

196778539

-
intron-3CDSENST00000472860ENST00000392382ACAP2chr3

195112819

-DLG1chr3

196778539

-
intron-intronENST00000472860ENST00000485409ACAP2chr3

195112819

-DLG1chr3

196778539

-

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FusionProtFeatures for ACAP2_DLG1


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

Q15057

DLG1

Q12959

GTPase-activating protein (GAP) for ADP ribosylationfactor 6 (ARF6). {ECO:0000269|PubMed:11062263}.

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_DLG1


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_DLG1


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, CYLDDLG1KCNA4, ADAM17, KCNJ12, KCNJ4, GPR124, CASK, LIN7A, LIN7C, APBA1, KCNA5, GRIN2A, CAMK2A, GRIA1, BTRC, ACTN2, CACNG2, GRIN2B, EPB41, ATP2B4, CRIPT, DLGAP1, KCNJ6, GRIK2, TJAP1, LRRC1, ERBB4, ATP2B2, EZR, KIF13B, CTNNA1, KCNJ2, GUCY1A2, LCK, KCNA3, MARCH2, AMOT, UBE3A, NET1, KHDRBS1, KCNC1, MAP1A, BAI1, HUWE1, ADAM10, NTRK1, TMEM17, DLG3, KIF26B, MAPK12, PARK2, CDH1, TGFA, PTPRE, PTEN, MPP2, EFNB3, GJB7, PRDM1, GPRC5B, WWC1


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_DLG1


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_DLG1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneDLG1C0036341Schizophrenia3CTD_human
TgeneDLG1C0008925Cleft Palate1CTD_human