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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:NR2C1-CDIP1 (FusionGDB2 ID:60091)

Fusion Gene Summary for NR2C1-CDIP1

check button Fusion gene summary
Fusion gene informationFusion gene name: NR2C1-CDIP1
Fusion gene ID: 60091
HgeneTgene
Gene symbol

NR2C1

CDIP1

Gene ID

7181

29965

Gene namenuclear receptor subfamily 2 group C member 1cell death inducing p53 target 1
SynonymsTR2C16orf5|CDIP|I1|LITAFL
Cytomap

12q22

16p13.3

Type of geneprotein-codingprotein-coding
Descriptionnuclear receptor subfamily 2 group C member 1TR2 nuclear hormone receptornuclear receptor subfamily 2, group C isoformorphan nuclear receptor TR2cell death-inducing p53-target protein 1LITAF-like proteincell death inducing proteincell death involved p53-targetlipopolysaccharide-induced tumor necrosis factor-alpha-like proteintransmembrane protein I1
Modification date2020031320200313
UniProtAcc

P13056

Q9H305

Ensembl transtripts involved in fusion geneENST00000330677, ENST00000333003, 
ENST00000393101, ENST00000545833, 
ENST00000563332, ENST00000399599, 
ENST00000562334, ENST00000563507, 
ENST00000564828, ENST00000567695, 
ENST00000586768, 
Fusion gene scores* DoF score3 X 3 X 2=186 X 5 X 4=120
# samples 36
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NR2C1 [Title/Abstract] AND CDIP1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNR2C1(95431242)-CDIP1(4560707), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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 buttonFusion gene breakpoints across NR2C1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across CDIP1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/ABM150399NR2C1chr12

95431242

-CDIP1chr16

4560707

+


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Fusion Gene ORF analysis for NR2C1-CDIP1

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-3UTRENST00000330677ENST00000563332NR2C1chr12

95431242

-CDIP1chr16

4560707

+
intron-3UTRENST00000333003ENST00000563332NR2C1chr12

95431242

-CDIP1chr16

4560707

+
intron-3UTRENST00000393101ENST00000563332NR2C1chr12

95431242

-CDIP1chr16

4560707

+
intron-3UTRENST00000545833ENST00000563332NR2C1chr12

95431242

-CDIP1chr16

4560707

+
intron-intronENST00000330677ENST00000399599NR2C1chr12

95431242

-CDIP1chr16

4560707

+
intron-intronENST00000330677ENST00000562334NR2C1chr12

95431242

-CDIP1chr16

4560707

+
intron-intronENST00000330677ENST00000563507NR2C1chr12

95431242

-CDIP1chr16

4560707

+
intron-intronENST00000330677ENST00000564828NR2C1chr12

95431242

-CDIP1chr16

4560707

+
intron-intronENST00000330677ENST00000567695NR2C1chr12

95431242

-CDIP1chr16

4560707

+
intron-intronENST00000330677ENST00000586768NR2C1chr12

95431242

-CDIP1chr16

4560707

+
intron-intronENST00000333003ENST00000399599NR2C1chr12

95431242

-CDIP1chr16

4560707

+
intron-intronENST00000333003ENST00000562334NR2C1chr12

95431242

-CDIP1chr16

4560707

+
intron-intronENST00000333003ENST00000563507NR2C1chr12

95431242

-CDIP1chr16

4560707

+
intron-intronENST00000333003ENST00000564828NR2C1chr12

95431242

-CDIP1chr16

4560707

+
intron-intronENST00000333003ENST00000567695NR2C1chr12

95431242

-CDIP1chr16

4560707

+
intron-intronENST00000333003ENST00000586768NR2C1chr12

95431242

-CDIP1chr16

4560707

+
intron-intronENST00000393101ENST00000399599NR2C1chr12

95431242

-CDIP1chr16

4560707

+
intron-intronENST00000393101ENST00000562334NR2C1chr12

95431242

-CDIP1chr16

4560707

+
intron-intronENST00000393101ENST00000563507NR2C1chr12

95431242

-CDIP1chr16

4560707

+
intron-intronENST00000393101ENST00000564828NR2C1chr12

95431242

-CDIP1chr16

4560707

+
intron-intronENST00000393101ENST00000567695NR2C1chr12

95431242

-CDIP1chr16

4560707

+
intron-intronENST00000393101ENST00000586768NR2C1chr12

95431242

-CDIP1chr16

4560707

+
intron-intronENST00000545833ENST00000399599NR2C1chr12

95431242

-CDIP1chr16

4560707

+
intron-intronENST00000545833ENST00000562334NR2C1chr12

95431242

-CDIP1chr16

4560707

+
intron-intronENST00000545833ENST00000563507NR2C1chr12

95431242

-CDIP1chr16

4560707

+
intron-intronENST00000545833ENST00000564828NR2C1chr12

95431242

-CDIP1chr16

4560707

+
intron-intronENST00000545833ENST00000567695NR2C1chr12

95431242

-CDIP1chr16

4560707

+
intron-intronENST00000545833ENST00000586768NR2C1chr12

95431242

-CDIP1chr16

4560707

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for NR2C1-CDIP1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for NR2C1-CDIP1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:95431242/:4560707)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NR2C1

P13056

CDIP1

Q9H305

FUNCTION: Orphan nuclear receptor. Binds the IR7 element in the promoter of its own gene in an autoregulatory negative feedback mechanism. Primarily repressor of a broad range of genes. Binds to hormone response elements (HREs) consisting of two 5'-AGGTCA-3' half site direct repeat consensus sequences. Together with NR2C2, forms the core of the DRED (direct repeat erythroid-definitive) complex that represses embryonic and fetal globin transcription. Also activator of OCT4 gene expression. May be involved in stem cell proliferation and differentiation. Mediator of retinoic acid-regulated preadipocyte proliferation. {ECO:0000269|PubMed:12093804, ECO:0000269|PubMed:17010934}.FUNCTION: Acts as an important p53/TP53-apoptotic effector. Regulates TNF-alpha-mediated apoptosis in a p53/TP53-dependent manner. {ECO:0000269|PubMed:17599062}.

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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Fusion Gene Sequence for NR2C1-CDIP1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for NR2C1-CDIP1


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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Related Drugs for NR2C1-CDIP1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for NR2C1-CDIP1


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