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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: 23839

FusionGeneSummary for NDUFA4_RTN3

check button Fusion gene summary
Fusion gene informationFusion gene name: NDUFA4_RTN3
Fusion gene ID: 23839
HgeneTgene
Gene symbol

NDUFA4

RTN3

Gene ID

4697

10313

Gene nameNDUFA4, mitochondrial complex associatedreticulon 3
SynonymsCI-9k|CI-MLRQ|MLRQASYIP|HAP|NSPL2|NSPLII|RTN3-A1
Cytomap

7p21.3

11q13.1

Type of geneprotein-codingprotein-coding
Descriptioncytochrome c oxidase subunit NDUFA4Complex I 9kDa subunitNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDaNADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4NADH-ubiquinone oxidoreductase MLRQ subunitcomplex I-MLRQreticulon-3ASY interacting proteinNSP-like protein 2NSP-like protein IIhomolog of ASY proteinneuroendocrine-specific protein-like 2neuroendocrine-specific protein-like II
Modification date2018052320180522
UniProtAcc

O00483

O95197

Ensembl transtripts involved in fusion geneENST00000339600, ENST00000492822, 
ENST00000341307, ENST00000356000, 
ENST00000538995, ENST00000377819, 
ENST00000339997, ENST00000540798, 
ENST00000537981, ENST00000354497, 
Fusion gene scores* DoF score2 X 2 X 1=49 X 5 X 7=315
# samples 211
** MAII scorelog2(2/4*10)=2.32192809488736log2(11/315*10)=-1.51784830486262
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NDUFA4 [Title/Abstract] AND RTN3 [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
TgeneRTN3

GO:0071787

endoplasmic reticulum tubular network formation

25612671


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
ChiTaRS3.1DA146680NDUFA4chr7

10973200

-RTN3chr11

63448972

+
* 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-5UTRENST00000339600ENST00000341307NDUFA4chr7

10973200

-RTN3chr11

63448972

+
intron-5UTRENST00000339600ENST00000356000NDUFA4chr7

10973200

-RTN3chr11

63448972

+
intron-3UTRENST00000339600ENST00000538995NDUFA4chr7

10973200

-RTN3chr11

63448972

+
intron-5UTRENST00000339600ENST00000377819NDUFA4chr7

10973200

-RTN3chr11

63448972

+
intron-5UTRENST00000339600ENST00000339997NDUFA4chr7

10973200

-RTN3chr11

63448972

+
intron-5UTRENST00000339600ENST00000540798NDUFA4chr7

10973200

-RTN3chr11

63448972

+
intron-5UTRENST00000339600ENST00000537981NDUFA4chr7

10973200

-RTN3chr11

63448972

+
intron-intronENST00000339600ENST00000354497NDUFA4chr7

10973200

-RTN3chr11

63448972

+
intron-5UTRENST00000492822ENST00000341307NDUFA4chr7

10973200

-RTN3chr11

63448972

+
intron-5UTRENST00000492822ENST00000356000NDUFA4chr7

10973200

-RTN3chr11

63448972

+
intron-3UTRENST00000492822ENST00000538995NDUFA4chr7

10973200

-RTN3chr11

63448972

+
intron-5UTRENST00000492822ENST00000377819NDUFA4chr7

10973200

-RTN3chr11

63448972

+
intron-5UTRENST00000492822ENST00000339997NDUFA4chr7

10973200

-RTN3chr11

63448972

+
intron-5UTRENST00000492822ENST00000540798NDUFA4chr7

10973200

-RTN3chr11

63448972

+
intron-5UTRENST00000492822ENST00000537981NDUFA4chr7

10973200

-RTN3chr11

63448972

+
intron-intronENST00000492822ENST00000354497NDUFA4chr7

10973200

-RTN3chr11

63448972

+

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FusionProtFeatures for NDUFA4_RTN3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NDUFA4

O00483

RTN3

O95197

Cytochrome c oxidase (COX, complex IV) is the terminalcomponent of the mitochondrial respiratory chain that catalyzesthe reduction of oxygen to water. Required for complex IVmaintenance. {ECO:0000269|PubMed:22902835}.

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 NDUFA4_RTN3


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 NDUFA4_RTN3


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 NDUFA4_RTN3


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 NDUFA4_RTN3


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