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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:NKIRAS1-CMC1 (FusionGDB2 ID:59275)

Fusion Gene Summary for NKIRAS1-CMC1

check button Fusion gene summary
Fusion gene informationFusion gene name: NKIRAS1-CMC1
Fusion gene ID: 59275
HgeneTgene
Gene symbol

NKIRAS1

CMC1

Gene ID

28512

152100

Gene nameNFKB inhibitor interacting Ras like 1C-X9-C motif containing 1
SynonymsKBRAS1|kappaB-Ras1C3orf68
Cytomap

3p24.2

3p24.1

Type of geneprotein-codingprotein-coding
DescriptionNF-kappa-B inhibitor-interacting Ras-like protein 1I-kappa-B-interacting Ras-like protein 1NFKB inhibitor interacting Ras-like protein 1kappa B-Ras protein 1kappa B-ras 1COX assembly mitochondrial protein homologC-x(9)-C motif containing 1COX assembly mitochondrial protein 1 homologCX9C mitochondrial protein required for full expression of COX 1cmc1pmitochondrial metallochaperone-like protein
Modification date2020031320200320
UniProtAcc

Q9NYS0

Q7Z7K0

Ensembl transtripts involved in fusion geneENST00000388759, ENST00000415901, 
ENST00000416026, ENST00000425478, 
ENST00000437230, ENST00000412028, 
ENST00000421515, ENST00000443659, 
ENST00000466830, ENST00000423894, 
ENST00000469102, 
Fusion gene scores* DoF score5 X 5 X 2=505 X 5 X 3=75
# samples 55
** MAII scorelog2(5/50*10)=0log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NKIRAS1 [Title/Abstract] AND CMC1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNKIRAS1(23958275)-CMC1(28304782), # 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 NKIRAS1 (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 CMC1 (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
ChimerDB4STADTCGA-BR-8296-01ANKIRAS1chr3

23958275

-CMC1chr3

28304782

+


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Fusion Gene ORF analysis for NKIRAS1-CMC1

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
5UTR-3CDSENST00000388759ENST00000466830NKIRAS1chr3

23958275

-CMC1chr3

28304782

+
5UTR-3CDSENST00000415901ENST00000466830NKIRAS1chr3

23958275

-CMC1chr3

28304782

+
5UTR-3CDSENST00000416026ENST00000466830NKIRAS1chr3

23958275

-CMC1chr3

28304782

+
5UTR-3CDSENST00000425478ENST00000466830NKIRAS1chr3

23958275

-CMC1chr3

28304782

+
5UTR-3CDSENST00000437230ENST00000466830NKIRAS1chr3

23958275

-CMC1chr3

28304782

+
5UTR-intronENST00000388759ENST00000423894NKIRAS1chr3

23958275

-CMC1chr3

28304782

+
5UTR-intronENST00000388759ENST00000469102NKIRAS1chr3

23958275

-CMC1chr3

28304782

+
5UTR-intronENST00000415901ENST00000423894NKIRAS1chr3

23958275

-CMC1chr3

28304782

+
5UTR-intronENST00000415901ENST00000469102NKIRAS1chr3

23958275

-CMC1chr3

28304782

+
5UTR-intronENST00000416026ENST00000423894NKIRAS1chr3

23958275

-CMC1chr3

28304782

+
5UTR-intronENST00000416026ENST00000469102NKIRAS1chr3

23958275

-CMC1chr3

28304782

+
5UTR-intronENST00000425478ENST00000423894NKIRAS1chr3

23958275

-CMC1chr3

28304782

+
5UTR-intronENST00000425478ENST00000469102NKIRAS1chr3

23958275

-CMC1chr3

28304782

+
5UTR-intronENST00000437230ENST00000423894NKIRAS1chr3

23958275

-CMC1chr3

28304782

+
5UTR-intronENST00000437230ENST00000469102NKIRAS1chr3

23958275

-CMC1chr3

28304782

+
intron-3CDSENST00000412028ENST00000466830NKIRAS1chr3

23958275

-CMC1chr3

28304782

+
intron-3CDSENST00000421515ENST00000466830NKIRAS1chr3

23958275

-CMC1chr3

28304782

+
intron-3CDSENST00000443659ENST00000466830NKIRAS1chr3

23958275

-CMC1chr3

28304782

+
intron-intronENST00000412028ENST00000423894NKIRAS1chr3

23958275

-CMC1chr3

28304782

+
intron-intronENST00000412028ENST00000469102NKIRAS1chr3

23958275

-CMC1chr3

28304782

+
intron-intronENST00000421515ENST00000423894NKIRAS1chr3

23958275

-CMC1chr3

28304782

+
intron-intronENST00000421515ENST00000469102NKIRAS1chr3

23958275

-CMC1chr3

28304782

+
intron-intronENST00000443659ENST00000423894NKIRAS1chr3

23958275

-CMC1chr3

28304782

+
intron-intronENST00000443659ENST00000469102NKIRAS1chr3

23958275

-CMC1chr3

28304782

+

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 NKIRAS1-CMC1


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)
NKIRAS1chr323958274-CMC1chr328304781+0.0022745950.9977254
NKIRAS1chr323958274-CMC1chr328304781+0.0022745950.9977254

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.
genomic feature of top 1%

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Fusion Protein Features for NKIRAS1-CMC1


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/:23958275/:28304782)
- 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
NKIRAS1

Q9NYS0

CMC1

Q7Z7K0

FUNCTION: Atypical Ras-like protein that acts as a potent regulator of NF-kappa-B activity by preventing the degradation of NF-kappa-B inhibitor beta (NFKBIB) by most signals, explaining why NFKBIB is more resistant to degradation. May act by blocking phosphorylation of NFKBIB and mediating cytoplasmic retention of p65/RELA NF-kappa-B subunit. It is unclear whether it acts as a GTPase. Both GTP- and GDP-bound forms block phosphorylation of NFKBIB. {ECO:0000269|PubMed:10657303, ECO:0000269|PubMed:12672800, ECO:0000269|PubMed:15024091}.FUNCTION: Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. {ECO:0000250}.

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 NKIRAS1-CMC1


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 NKIRAS1-CMC1


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 NKIRAS1-CMC1


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 NKIRAS1-CMC1


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