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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: 9810

FusionGeneSummary for DGCR2_SEC63

check button Fusion gene summary
Fusion gene informationFusion gene name: DGCR2_SEC63
Fusion gene ID: 9810
HgeneTgene
Gene symbol

DGCR2

SEC63

Gene ID

9993

11231

Gene nameDiGeorge syndrome critical region gene 2SEC63 homolog, protein translocation regulator
SynonymsDGS-C|IDD|LAN|SEZ-12DNAJC23|ERdj2|PCLD2|PRO2507|SEC63L
Cytomap

22q11.21

6q21

Type of geneprotein-codingprotein-coding
Descriptionintegral membrane protein DGCR2/IDDDiGeorge syndrome critical region protein 2integral membrane protein deleted in DiGeorge syndrometranslocation protein SEC63 homologSEC63 protein translocation regulatorSEC63-like protein
Modification date2018051920180523
UniProtAcc

P98153

Q9UGP8

Ensembl transtripts involved in fusion geneENST00000537045, ENST00000263196, 
ENST00000545799, ENST00000473832, 
ENST00000369002, ENST00000460009, 
Fusion gene scores* DoF score13 X 10 X 8=104030 X 6 X 14=2520
# samples 1533
** MAII scorelog2(15/1040*10)=-2.79354912253257
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(33/2520*10)=-2.93288580414146
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DGCR2 [Title/Abstract] AND SEC63 [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
TCGARVBRCATCGA-A8-A083-01ADGCR2chr22

19023801

-SEC63chr6

108214782

-
* 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
intron-3CDSENST00000537045ENST00000369002DGCR2chr22

19023801

-SEC63chr6

108214782

-
intron-intronENST00000537045ENST00000460009DGCR2chr22

19023801

-SEC63chr6

108214782

-
Frame-shiftENST00000263196ENST00000369002DGCR2chr22

19023801

-SEC63chr6

108214782

-
5CDS-intronENST00000263196ENST00000460009DGCR2chr22

19023801

-SEC63chr6

108214782

-
Frame-shiftENST00000545799ENST00000369002DGCR2chr22

19023801

-SEC63chr6

108214782

-
5CDS-intronENST00000545799ENST00000460009DGCR2chr22

19023801

-SEC63chr6

108214782

-
intron-3CDSENST00000473832ENST00000369002DGCR2chr22

19023801

-SEC63chr6

108214782

-
intron-intronENST00000473832ENST00000460009DGCR2chr22

19023801

-SEC63chr6

108214782

-

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FusionProtFeatures for DGCR2_SEC63


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DGCR2

P98153

SEC63

Q9UGP8

Putative adhesion receptor, that could be involved incell-cell or cell-matrix interactions required for normal celldifferentiation and migration. Required for integral membrane and secreted preproteintranslocation across the endoplasmic reticulum membrane.

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 DGCR2_SEC63


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 DGCR2_SEC63


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
DGCR2SMURF2, DDIT3, HNRNPD, IL9R, WWP2, PTPRK, ZACN, HTR3C, ADAM33SEC63GSTK1, IRF1, PMF1, SPA17, GPR183, RFX3, GPRC5D, SKAP1, ACADM, RPS5, ABCC1, DDOST, KPNA4, SEC61A1, NTRK1, TP53, OFD1, TCTN2, TCTN3, NPHP1, RPGRIP1L, EVC2, TCTN1, TMEM17, TMEM216, HSPA5, SENP3, CDKN3, YIPF3, HTR2C, ARFGAP1, BIN3, GPRC5B, TPTE, NR3C1, TRIM25


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 DGCR2_SEC63


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 DGCR2_SEC63


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDGCR2C0036341Schizophrenia1CTD_human
TgeneSEC63C0022680Polycystic Kidney Diseases1CTD_human
TgeneSEC63C0158683Polycystic liver disease1CTD_human;HPO;ORPHANET