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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: 12260

FusionGeneSummary for EXOC2_MDGA1

check button Fusion gene summary
Fusion gene informationFusion gene name: EXOC2_MDGA1
Fusion gene ID: 12260
HgeneTgene
Gene symbol

EXOC2

MDGA1

Gene ID

55770

266727

Gene nameexocyst complex component 2MAM domain containing glycosylphosphatidylinositol anchor 1
SynonymsSEC5|SEC5L1|Sec5pGPIM|MAMDC3
Cytomap

6p25.3

6p21.2

Type of geneprotein-codingprotein-coding
Descriptionexocyst complex component 2SEC5-like 1exocyst complex component Sec5MAM domain-containing glycosylphosphatidylinositol anchor protein 1GPI and MAM proteinMAM domain-containing protein 3glycosylphosphatidylinositol-MAM
Modification date2018052320180522
UniProtAcc

Q96KP1

Q8NFP4

Ensembl transtripts involved in fusion geneENST00000230449, ENST00000448181, 
ENST00000475028, 
ENST00000297153, 
ENST00000434837, ENST00000505425, 
ENST00000510077, 
Fusion gene scores* DoF score7 X 4 X 7=1965 X 3 X 5=75
# samples 75
** MAII scorelog2(7/196*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EXOC2 [Title/Abstract] AND MDGA1 [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
TCGARVSKCMTCGA-ER-A3EV-06AEXOC2chr6

693019

-MDGA1chr6

37612425

-
* 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-3CDSENST00000230449ENST00000297153EXOC2chr6

693019

-MDGA1chr6

37612425

-
5UTR-3CDSENST00000230449ENST00000434837EXOC2chr6

693019

-MDGA1chr6

37612425

-
5UTR-3CDSENST00000230449ENST00000505425EXOC2chr6

693019

-MDGA1chr6

37612425

-
5UTR-intronENST00000230449ENST00000510077EXOC2chr6

693019

-MDGA1chr6

37612425

-
5UTR-3CDSENST00000448181ENST00000297153EXOC2chr6

693019

-MDGA1chr6

37612425

-
5UTR-3CDSENST00000448181ENST00000434837EXOC2chr6

693019

-MDGA1chr6

37612425

-
5UTR-3CDSENST00000448181ENST00000505425EXOC2chr6

693019

-MDGA1chr6

37612425

-
5UTR-intronENST00000448181ENST00000510077EXOC2chr6

693019

-MDGA1chr6

37612425

-
5UTR-3CDSENST00000475028ENST00000297153EXOC2chr6

693019

-MDGA1chr6

37612425

-
5UTR-3CDSENST00000475028ENST00000434837EXOC2chr6

693019

-MDGA1chr6

37612425

-
5UTR-3CDSENST00000475028ENST00000505425EXOC2chr6

693019

-MDGA1chr6

37612425

-
5UTR-intronENST00000475028ENST00000510077EXOC2chr6

693019

-MDGA1chr6

37612425

-

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FusionProtFeatures for EXOC2_MDGA1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EXOC2

Q96KP1

MDGA1

Q8NFP4

Component of the exocyst complex involved in the dockingof exocytic vesicles with fusion sites on the plasma membrane. Required for radial migration of cortical neurons in thesuperficial layer of the neocortex (By similarity). Plays a rolein the formation or maintenance of inhibitory synapses. Mayfunction by inhibiting the activity of NLGN2. {ECO:0000250,ECO:0000269|PubMed:23248271}.

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 EXOC2_MDGA1


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 EXOC2_MDGA1


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
EXOC2EXOC8, RALB, RALA, SERGEF, VPS53, EXOC4, EXOC3, EXOC7, EXOC5, EXOC6, GET4, ESX1, TBK1, BECN1, USP33, KIAA0226, ATG14, PIK3C3, ULK1, SHMT2, MOV10, NXF1, BSG, LPAR6, PTGER3, SCN2B, SCARA3, HTR6, EXOC1, PGM1, SPTBN2, NTRK1, RANBP9, SNW1, CDC5L, PTAR1, IL1R2, EDNRB, APLNR, CHRM3, EXOC6B, CDKN2AMDGA1LNX2


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 EXOC2_MDGA1


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 EXOC2_MDGA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMDGA1C0036341Schizophrenia2PSYGENET
TgeneMDGA1C0005586Bipolar Disorder1PSYGENET
TgeneMDGA1C0041696Unipolar Depression1PSYGENET
TgeneMDGA1C1269683Major Depressive Disorder1PSYGENET