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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:NDUFAF3-CASK (FusionGDB2 ID:58127)

Fusion Gene Summary for NDUFAF3-CASK

check button Fusion gene summary
Fusion gene informationFusion gene name: NDUFAF3-CASK
Fusion gene ID: 58127
HgeneTgene
Gene symbol

NDUFAF3

CASK

Gene ID

25915

8573

Gene nameNADH:ubiquinone oxidoreductase complex assembly factor 3calcium/calmodulin dependent serine protein kinase
Synonyms2P1|C3orf60|E3-3|MC1DN18CAGH39|CAMGUK|CMG|FGS4|LIN2|MICPCH|MRXSNA|TNRC8|hCASK
Cytomap

3p21.31

Xp11.4

Type of geneprotein-codingprotein-coding
DescriptionNADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3NADH dehydrogenase (ubiquinone) complex I, assembly factor 3nuclear protein E3-3peripheral plasma membrane protein CASKcalcium/calmodulin-dependent serin protein kinasecalcium/calmodulin-dependent serine protein kinase (MAGUK family)calcium/calmodulin-dependent serine protein kinase membrane-associated guanylate kinaseprotein lin
Modification date2020031320200327
UniProtAcc

Q9BU61

Q8WXE0

Ensembl transtripts involved in fusion geneENST00000326925, ENST00000326912, 
ENST00000395458, ENST00000451378, 
ENST00000318588, ENST00000361962, 
ENST00000378154, ENST00000378158, 
ENST00000378163, ENST00000378166, 
ENST00000421587, ENST00000442742, 
ENST00000472704, 
Fusion gene scores* DoF score2 X 2 X 1=415 X 14 X 9=1890
# samples 217
** MAII scorelog2(2/4*10)=2.32192809488736log2(17/1890*10)=-3.47477958297073
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NDUFAF3 [Title/Abstract] AND CASK [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNDUFAF3(49060721)-CASK(41611305), # 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
TgeneCASK

GO:0010839

negative regulation of keratinocyte proliferation

18664494


check buttonFusion gene breakpoints across NDUFAF3 (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 CASK (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/ABI855787NDUFAF3chr3

49060721

+CASKchrX

41611305

+


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Fusion Gene ORF analysis for NDUFAF3-CASK

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
3UTR-intronENST00000326925ENST00000318588NDUFAF3chr3

49060721

+CASKchrX

41611305

+
3UTR-intronENST00000326925ENST00000361962NDUFAF3chr3

49060721

+CASKchrX

41611305

+
3UTR-intronENST00000326925ENST00000378154NDUFAF3chr3

49060721

+CASKchrX

41611305

+
3UTR-intronENST00000326925ENST00000378158NDUFAF3chr3

49060721

+CASKchrX

41611305

+
3UTR-intronENST00000326925ENST00000378163NDUFAF3chr3

49060721

+CASKchrX

41611305

+
3UTR-intronENST00000326925ENST00000378166NDUFAF3chr3

49060721

+CASKchrX

41611305

+
3UTR-intronENST00000326925ENST00000421587NDUFAF3chr3

49060721

+CASKchrX

41611305

+
3UTR-intronENST00000326925ENST00000442742NDUFAF3chr3

49060721

+CASKchrX

41611305

+
3UTR-intronENST00000326925ENST00000472704NDUFAF3chr3

49060721

+CASKchrX

41611305

+
5CDS-intronENST00000326912ENST00000318588NDUFAF3chr3

49060721

+CASKchrX

41611305

+
5CDS-intronENST00000326912ENST00000361962NDUFAF3chr3

49060721

+CASKchrX

41611305

+
5CDS-intronENST00000326912ENST00000378154NDUFAF3chr3

49060721

+CASKchrX

41611305

+
5CDS-intronENST00000326912ENST00000378158NDUFAF3chr3

49060721

+CASKchrX

41611305

+
5CDS-intronENST00000326912ENST00000378163NDUFAF3chr3

49060721

+CASKchrX

41611305

+
5CDS-intronENST00000326912ENST00000378166NDUFAF3chr3

49060721

+CASKchrX

41611305

+
5CDS-intronENST00000326912ENST00000421587NDUFAF3chr3

49060721

+CASKchrX

41611305

+
5CDS-intronENST00000326912ENST00000442742NDUFAF3chr3

49060721

+CASKchrX

41611305

+
5CDS-intronENST00000326912ENST00000472704NDUFAF3chr3

49060721

+CASKchrX

41611305

+
5CDS-intronENST00000395458ENST00000318588NDUFAF3chr3

49060721

+CASKchrX

41611305

+
5CDS-intronENST00000395458ENST00000361962NDUFAF3chr3

49060721

+CASKchrX

41611305

+
5CDS-intronENST00000395458ENST00000378154NDUFAF3chr3

49060721

+CASKchrX

41611305

+
5CDS-intronENST00000395458ENST00000378158NDUFAF3chr3

49060721

+CASKchrX

41611305

+
5CDS-intronENST00000395458ENST00000378163NDUFAF3chr3

49060721

+CASKchrX

41611305

+
5CDS-intronENST00000395458ENST00000378166NDUFAF3chr3

49060721

+CASKchrX

41611305

+
5CDS-intronENST00000395458ENST00000421587NDUFAF3chr3

49060721

+CASKchrX

41611305

+
5CDS-intronENST00000395458ENST00000442742NDUFAF3chr3

49060721

+CASKchrX

41611305

+
5CDS-intronENST00000395458ENST00000472704NDUFAF3chr3

49060721

+CASKchrX

41611305

+
5CDS-intronENST00000451378ENST00000318588NDUFAF3chr3

49060721

+CASKchrX

41611305

+
5CDS-intronENST00000451378ENST00000361962NDUFAF3chr3

49060721

+CASKchrX

41611305

+
5CDS-intronENST00000451378ENST00000378154NDUFAF3chr3

49060721

+CASKchrX

41611305

+
5CDS-intronENST00000451378ENST00000378158NDUFAF3chr3

49060721

+CASKchrX

41611305

+
5CDS-intronENST00000451378ENST00000378163NDUFAF3chr3

49060721

+CASKchrX

41611305

+
5CDS-intronENST00000451378ENST00000378166NDUFAF3chr3

49060721

+CASKchrX

41611305

+
5CDS-intronENST00000451378ENST00000421587NDUFAF3chr3

49060721

+CASKchrX

41611305

+
5CDS-intronENST00000451378ENST00000442742NDUFAF3chr3

49060721

+CASKchrX

41611305

+
5CDS-intronENST00000451378ENST00000472704NDUFAF3chr3

49060721

+CASKchrX

41611305

+

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 NDUFAF3-CASK


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 NDUFAF3-CASK


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/:49060721/:41611305)
- 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
NDUFAF3

Q9BU61

CASK

Q8WXE0

FUNCTION: Essential factor for the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). {ECO:0000269|PubMed:19463981}.

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 NDUFAF3-CASK


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 NDUFAF3-CASK


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 NDUFAF3-CASK


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 NDUFAF3-CASK


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