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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: 9729

FusionGeneSummary for DENND3_MZB1

check button Fusion gene summary
Fusion gene informationFusion gene name: DENND3_MZB1
Fusion gene ID: 9729
HgeneTgene
Gene symbol

DENND3

MZB1

Gene ID

22898

51237

Gene nameDENN domain containing 3marginal zone B and B1 cell specific protein
Synonyms-MEDA-7|PACAP|pERp1
Cytomap

8q24.3

5q31.2

Type of geneprotein-codingprotein-coding
DescriptionDENN domain-containing protein 3DENN/MADD domain containing 3marginal zone B- and B1-cell-specific proteinHSPC190caspase-2 binding proteinmesenteric estrogen-dependent adipose 7mesenteric oestrogen-dependent adipose gene- 7plasma cell-induced ER protein 1plasma cell-induced resident ER proteinplasma cell-ind
Modification date2018051920180523
UniProtAcc

A2RUS2

Q8WU39

Ensembl transtripts involved in fusion geneENST00000518347, ENST00000424248, 
ENST00000262585, ENST00000519811, 
ENST00000518806, ENST00000523308, 
ENST00000302125, ENST00000412103, 
ENST00000457570, 
Fusion gene scores* DoF score3 X 3 X 2=182 X 2 X 1=4
# samples 43
** MAII scorelog2(4/18*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/4*10)=2.90689059560852
Context

PubMed: DENND3 [Title/Abstract] AND MZB1 [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
ChiTaRS3.1BE928741DENND3chr8

142168383

-MZB1chr5

138724278

-
ChiTaRS3.1AW947243DENND3chr8

142168383

-MZB1chr5

138724278

-
* 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-3CDSENST00000518347ENST00000302125DENND3chr8

142168383

-MZB1chr5

138724278

-
intron-intronENST00000518347ENST00000412103DENND3chr8

142168383

-MZB1chr5

138724278

-
intron-intronENST00000518347ENST00000457570DENND3chr8

142168383

-MZB1chr5

138724278

-
intron-3CDSENST00000424248ENST00000302125DENND3chr8

142168383

-MZB1chr5

138724278

-
intron-intronENST00000424248ENST00000412103DENND3chr8

142168383

-MZB1chr5

138724278

-
intron-intronENST00000424248ENST00000457570DENND3chr8

142168383

-MZB1chr5

138724278

-
intron-3CDSENST00000262585ENST00000302125DENND3chr8

142168383

-MZB1chr5

138724278

-
intron-intronENST00000262585ENST00000412103DENND3chr8

142168383

-MZB1chr5

138724278

-
intron-intronENST00000262585ENST00000457570DENND3chr8

142168383

-MZB1chr5

138724278

-
intron-3CDSENST00000519811ENST00000302125DENND3chr8

142168383

-MZB1chr5

138724278

-
intron-intronENST00000519811ENST00000412103DENND3chr8

142168383

-MZB1chr5

138724278

-
intron-intronENST00000519811ENST00000457570DENND3chr8

142168383

-MZB1chr5

138724278

-
intron-3CDSENST00000518806ENST00000302125DENND3chr8

142168383

-MZB1chr5

138724278

-
intron-intronENST00000518806ENST00000412103DENND3chr8

142168383

-MZB1chr5

138724278

-
intron-intronENST00000518806ENST00000457570DENND3chr8

142168383

-MZB1chr5

138724278

-
intron-3CDSENST00000523308ENST00000302125DENND3chr8

142168383

-MZB1chr5

138724278

-
intron-intronENST00000523308ENST00000412103DENND3chr8

142168383

-MZB1chr5

138724278

-
intron-intronENST00000523308ENST00000457570DENND3chr8

142168383

-MZB1chr5

138724278

-

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FusionProtFeatures for DENND3_MZB1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DENND3

A2RUS2

MZB1

Q8WU39

Guanine nucleotide exchange factor (GEF) activatingRAB12. Promotes the exchange of GDP to GTP, converting inactiveGDP-bound RAB12 into its active GTP-bound form (PubMed:20937701).Regulates autophagy in response to starvation through RAB12activation. Starvation leads to ULK1/2-dependent phosphorylationof Ser-472 and Ser-490, which in turn allows recruitment of 14-3-3adapter proteins and leads to up-regulation of GEF activitytowards RAB12 (By similarity). Also plays a role in proteintransport from recycling endosomes to lysosomes, regulating, forinstance, the degradation of the transferrin receptor and of theamino acid transporter PAT4 (PubMed:20937701). Starvation alsoinduces phosphorylation at Tyr-858, which leads to up-regulatedGEF activity and initiates autophagy (By similarity).{ECO:0000250|UniProtKB:A2RT67, ECO:0000269|PubMed:20937701}. Associates with immunoglobulin M (IgM) heavy and lightchains and promotes IgM assembly and secretion. May exert itseffect by acting as a molecular chaperone or as an oxidoreductaseas it displays a low level of oxidoreductase activity (Bysimilarity). Isoform 2 may be involved in regulation of apoptosis.Helps to diversify peripheral B-cell functions by regulatingCa(2+) stores, antibody secretion and integrin activation.{ECO:0000250, ECO:0000269|PubMed:11350957,ECO:0000269|PubMed:21688198}. Acts as a hormone-regulated adipokine/proinflammatorycytokine that is implicated in causing chronic inflammation,affecting cellular expansion and blunting insulin response inadipocytes. May have a role in the onset of insulin resistance.

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 DENND3_MZB1


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 DENND3_MZB1


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


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 DENND3_MZB1


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 DENND3_MZB1


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