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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:DOPEY2-NDUFAB1 (FusionGDB2 ID:HG9980TG4706)

Fusion Gene Summary for DOPEY2-NDUFAB1

check button Fusion gene summary
Fusion gene informationFusion gene name: DOPEY2-NDUFAB1
Fusion gene ID: hg9980tg4706
HgeneTgene
Gene symbol

DOPEY2

NDUFAB1

Gene ID

9980

4706

Gene nameDOP1 leucine zipper like protein BNADH:ubiquinone oxidoreductase subunit AB1
Synonyms21orf5|C21orf5|DOPEY2ACP|ACP1|FASN2A|SDAP
Cytomap('DOPEY2')('NDUFAB1')

21q22.12

16p12.2

Type of geneprotein-codingprotein-coding
Descriptionprotein dopey-2dopey family member 2homolog of yeast DOP1acyl carrier protein, mitochondrialCI-SDAPNADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDaNADH-ubiquinone oxidoreductase 9.6 kDa subunitNADH:ubiquinone oxidoreductase SDAP subunitcomplex I SDAP subunitmitochondrial acyl carrier prot
Modification date2020031320200313
UniProtAcc.

O14561

Ensembl transtripts involved in fusion geneENST00000492760, ENST00000399151, 
Fusion gene scores* DoF score16 X 13 X 8=16642 X 1 X 2=4
# samples 192
** MAII scorelog2(19/1664*10)=-3.13058410981014
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: DOPEY2 [Title/Abstract] AND NDUFAB1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDOPEY2(37537169)-NDUFAB1(23598640), # samples:1
Anticipated loss of major functional domain due to fusion event.DOPEY2-NDUFAB1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
DOPEY2-NDUFAB1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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 DOPEY2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across NDUFAB1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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
ChimerDB4Non-CancerTCGA-HU-A4GP-11ADOPEY2chr21

37537169

+NDUFAB1chr16

23598640

-


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Fusion Gene ORF analysis for DOPEY2-NDUFAB1

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-3CDSENST00000492760ENST00000007516DOPEY2chr21

37537169

+NDUFAB1chr16

23598640

-
3UTR-3CDSENST00000492760ENST00000570319DOPEY2chr21

37537169

+NDUFAB1chr16

23598640

-
In-frameENST00000399151ENST00000007516DOPEY2chr21

37537169

+NDUFAB1chr16

23598640

-
In-frameENST00000399151ENST00000570319DOPEY2chr21

37537169

+NDUFAB1chr16

23598640

-

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)
ENST00000399151DOPEY2chr2137537169+ENST00000007516NDUFAB1chr1623598640-70622385525146
ENST00000399151DOPEY2chr2137537169+ENST00000570319NDUFAB1chr1623598640-93922385525146

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
ENST00000399151ENST00000007516DOPEY2chr2137537169+NDUFAB1chr1623598640-0.0040280830.99597186
ENST00000399151ENST00000570319DOPEY2chr2137537169+NDUFAB1chr1623598640-0.0085139910.991486

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Fusion Genomic Features for DOPEY2-NDUFAB1


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.
genomic feature

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Fusion Protein Features for DOPEY2-NDUFAB1


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/chr21:37537169/chr16:23598640)
- 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
.NDUFAB1

O14561

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Carrier of the growing fatty acid chain in fatty acid biosynthesis (By similarity). Accessory and non-catalytic subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain (PubMed:27626371). {ECO:0000250|UniProtKB:P52505, ECO:0000269|PubMed:27626371}.

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
TgeneNDUFAB1chr21:37537169chr16:23598640ENST000000075160577_15256128.66666666666666DomainCarrier
TgeneNDUFAB1chr21:37537169chr16:23598640ENST000005703190477_15256157.0DomainCarrier

- 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 DOPEY2-NDUFAB1


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.
>23893_23893_1_DOPEY2-NDUFAB1_DOPEY2_chr21_37537169_ENST00000399151_NDUFAB1_chr16_23598640_ENST00000007516_length(transcript)=706nt_BP=223nt
TTCATCTCCCACAGTGCCTGGCCCAGAAGCCTTGCTAAATATTTGAACAGGATTGCCCAATACTTTTCTGCTGTGAGAATGTAAGATGGA
TCCAGAAGAGCAGGAGCTCTTAAATGATTACAGATACAGAAGCTACTCTTCAGTGATTGAAAAGGCTTTGAGAAATTTTGAGTCCTCGAG
TGAATGGGCGGATCTCATATCTTCACTTGGCAAACTCAACAAGGTTCCTGGTAGAGTTACACAGTTGTGCCGCCAGTATAGCGACATGCC
TCCTTTGACGTTAGAGGGCATCCAGGACCGTGTTCTTTACGTATTGAAACTCTATGACAAGATTGACCCAGAGAAGCTTTCAGTAAATTC
TCATTTTATGAAAGACCTGGGCTTAGACAGTTTGGACCAAGTGGAGATTATCATGGCCATGGAAGACGAATTTGGGTTTGAAATTCCTGA
TATAGATGCTGAAAAGTTAATGTGTCCACAAGAAATTGTAGATTACATTGCAGATAAGAAGGATGTATATGAATAAAGTATCAGACCCTT
TGGCTTTGCTGAGAGAGGACTCAGATGATAGTGACGAATGTCTGGCAGTGAGGACACATTTTGGCATTCTTGCTGACTCTGACAGAGTGA

>23893_23893_1_DOPEY2-NDUFAB1_DOPEY2_chr21_37537169_ENST00000399151_NDUFAB1_chr16_23598640_ENST00000007516_length(amino acids)=146AA_BP=46
MDPEEQELLNDYRYRSYSSVIEKALRNFESSSEWADLISSLGKLNKVPGRVTQLCRQYSDMPPLTLEGIQDRVLYVLKLYDKIDPEKLSV

--------------------------------------------------------------
>23893_23893_2_DOPEY2-NDUFAB1_DOPEY2_chr21_37537169_ENST00000399151_NDUFAB1_chr16_23598640_ENST00000570319_length(transcript)=939nt_BP=223nt
TTCATCTCCCACAGTGCCTGGCCCAGAAGCCTTGCTAAATATTTGAACAGGATTGCCCAATACTTTTCTGCTGTGAGAATGTAAGATGGA
TCCAGAAGAGCAGGAGCTCTTAAATGATTACAGATACAGAAGCTACTCTTCAGTGATTGAAAAGGCTTTGAGAAATTTTGAGTCCTCGAG
TGAATGGGCGGATCTCATATCTTCACTTGGCAAACTCAACAAGGTTCCTGGTAGAGTTACACAGTTGTGCCGCCAGTATAGCGACATGCC
TCCTTTGACGTTAGAGGGCATCCAGGACCGTGTTCTTTACGTATTGAAACTCTATGACAAGATTGACCCAGAGAAGCTTTCAGTAAATTC
TCATTTTATGAAAGACCTGGGCTTAGACAGTTTGGACCAAGTGGAGATTATCATGGCCATGGAAGACGAATTTGGGTTTGAAATTCCTGA
TATAGATGCTGAAAAGTTAATGTGTCCACAAGAAATTGTAGATTACATTGCAGATAAGAAGGATGTATATGAATAAAGTATCAGGTAAAT
AGACTTAAAAAATGATGTTCACCCATAGATTTGTCTGTGGTTCTTCAATAAAGGAAACTTAAGAAGAAACAGAAAATGGAAATGCTTGAC
CAAGATTTTTCACTACTTATAAAATGCAAGCCCTTTCCTGTTGTCTGCCACTCAAAGGGGCCCAGCCCTGGTGGTGATCTTTGAGAGGTT
GAGAACTGTCATTCCTGGATAGAACTCCCTTGATTGTCAGCTGTCCTCACAAAAGCAGAACATTGTACAAAGTACTGAACAGGGTAACCT
GGAAACAGACCTCTGTCTCCCTCAATTACTCAGCCAAGGTAAGCCCAGCCTGCTGGGTAAGACACTGAAGTGACCTGGCTCTTAAGTAGG

>23893_23893_2_DOPEY2-NDUFAB1_DOPEY2_chr21_37537169_ENST00000399151_NDUFAB1_chr16_23598640_ENST00000570319_length(amino acids)=146AA_BP=46
MDPEEQELLNDYRYRSYSSVIEKALRNFESSSEWADLISSLGKLNKVPGRVTQLCRQYSDMPPLTLEGIQDRVLYVLKLYDKIDPEKLSV

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Fusion Gene PPI Analysis for DOPEY2-NDUFAB1


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 DOPEY2-NDUFAB1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneNDUFAB1O14561DB00157NADHSmall moleculeApproved|Nutraceutical

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Related Diseases for DOPEY2-NDUFAB1


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