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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: 30847

FusionGeneSummary for RC3H2_NRF1

check button Fusion gene summary
Fusion gene informationFusion gene name: RC3H2_NRF1
Fusion gene ID: 30847
HgeneTgene
Gene symbol

RC3H2

NRF1

Gene ID

54542

4899

Gene namering finger and CCCH-type domains 2nuclear respiratory factor 1
SynonymsMNAB|RNF164ALPHA-PAL
Cytomap

9q33.2

7q32.2

Type of geneprotein-codingprotein-coding
Descriptionroquin-2RING finger protein 164RING-type E3 ubiquitin transferase Roquin-2membrane associated DNA binding proteinmembrane-associated nucleic acid-binding proteinring finger and CCCH-type zinc finger domain-containing protein 2ring finger and CCCH-tynuclear respiratory factor 1alpha palindromic-binding protein
Modification date2018052220180523
UniProtAcc

Q9HBD1

Q16656

Ensembl transtripts involved in fusion geneENST00000373670, ENST00000357244, 
ENST00000423239, ENST00000373665, 
ENST00000335387, ENST00000478216, 
ENST00000471874, 		ENST00000393232, 
ENST00000353868, ENST00000539636, 
ENST00000311967, ENST00000223190, 
ENST00000393230, ENST00000393231, 
ENST00000477428, 
Fusion gene scores* DoF score4 X 4 X 3=484 X 4 X 3=48
# samples 44
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RC3H2 [Title/Abstract] AND NRF1 [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
HgeneRC3H2

GO:0000209

protein polyubiquitination

26489670


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
TCGALDOVTCGA-61-2092-01ARC3H2chr9

125655188

-NRF1chr7

129269919

+
* 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
5CDS-intronENST00000373670ENST00000393232RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000373670ENST00000353868RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000373670ENST00000539636RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000373670ENST00000311967RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000373670ENST00000223190RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-5UTRENST00000373670ENST00000393230RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000373670ENST00000393231RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-3UTRENST00000373670ENST00000477428RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000357244ENST00000393232RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000357244ENST00000353868RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000357244ENST00000539636RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000357244ENST00000311967RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000357244ENST00000223190RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-5UTRENST00000357244ENST00000393230RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000357244ENST00000393231RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-3UTRENST00000357244ENST00000477428RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000423239ENST00000393232RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000423239ENST00000353868RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000423239ENST00000539636RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000423239ENST00000311967RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000423239ENST00000223190RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-5UTRENST00000423239ENST00000393230RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000423239ENST00000393231RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-3UTRENST00000423239ENST00000477428RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000373665ENST00000393232RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000373665ENST00000353868RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000373665ENST00000539636RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000373665ENST00000311967RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000373665ENST00000223190RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-5UTRENST00000373665ENST00000393230RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000373665ENST00000393231RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-3UTRENST00000373665ENST00000477428RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000335387ENST00000393232RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000335387ENST00000353868RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000335387ENST00000539636RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000335387ENST00000311967RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000335387ENST00000223190RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-5UTRENST00000335387ENST00000393230RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000335387ENST00000393231RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-3UTRENST00000335387ENST00000477428RC3H2chr9

125655188

-NRF1chr7

129269919

+
intron-intronENST00000478216ENST00000393232RC3H2chr9

125655188

-NRF1chr7

129269919

+
intron-intronENST00000478216ENST00000353868RC3H2chr9

125655188

-NRF1chr7

129269919

+
intron-intronENST00000478216ENST00000539636RC3H2chr9

125655188

-NRF1chr7

129269919

+
intron-intronENST00000478216ENST00000311967RC3H2chr9

125655188

-NRF1chr7

129269919

+
intron-intronENST00000478216ENST00000223190RC3H2chr9

125655188

-NRF1chr7

129269919

+
intron-5UTRENST00000478216ENST00000393230RC3H2chr9

125655188

-NRF1chr7

129269919

+
intron-intronENST00000478216ENST00000393231RC3H2chr9

125655188

-NRF1chr7

129269919

+
intron-3UTRENST00000478216ENST00000477428RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000471874ENST00000393232RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000471874ENST00000353868RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000471874ENST00000539636RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000471874ENST00000311967RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000471874ENST00000223190RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-5UTRENST00000471874ENST00000393230RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-intronENST00000471874ENST00000393231RC3H2chr9

125655188

-NRF1chr7

129269919

+
5CDS-3UTRENST00000471874ENST00000477428RC3H2chr9

125655188

-NRF1chr7

129269919

+

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FusionProtFeatures for RC3H2_NRF1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RC3H2

Q9HBD1

NRF1

Q16656

Transcription factor that activates the expression ofthe EIF2S1 (EIF2-alpha) gene. Links the transcriptional modulationof key metabolic genes to cellular growth and development.Implicated in the control of nuclear genes required forrespiration, heme biosynthesis, and mitochondrial DNAtranscription and replication.

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 RC3H2_NRF1


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 RC3H2_NRF1


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
RC3H2UBE2N, UBE2I, ELAVL1, TRIM8, MMGT1, RC3H2, UBC, UBE2E2, UBE2E3, UBE2K, UBE2Q2, UBE2B, UBE2D2, UBE2G2, UBE2V1, UBE2V2, RC3H1, KLHL6, PFDN4, CYP19A1, ACTBL2, TRIM25NRF1DYNLL1, MAFF, PPARGC1A, PPRC1, PARP1, CEBPB, CSNK2A1, CSNK2B, FHL2, SP4, TRAF2, POGZ, PLXDC1, FOXJ2, FOXK2, FOXP3, WDR59, DYNLL2


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


Top

RelatedDrugs for RC3H2_NRF1


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 RC3H2_NRF1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneNRF1C0006079Bowen's Disease1CTD_human