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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:UQCRC2-NFU1 (FusionGDB2 ID:97012)

Fusion Gene Summary for UQCRC2-NFU1

check button Fusion gene summary
Fusion gene informationFusion gene name: UQCRC2-NFU1
Fusion gene ID: 97012
HgeneTgene
Gene symbol

UQCRC2

NFU1

Gene ID

7385

27247

Gene nameubiquinol-cytochrome c reductase core protein 2NFU1 iron-sulfur cluster scaffold
SynonymsMC3DN5|QCR2|UQCR2CGI-33|HIRIP|HIRIP5|MMDS1|NIFUC|Nfu|NifU
Cytomap

16p12.2

2p13.3

Type of geneprotein-codingprotein-coding
Descriptioncytochrome b-c1 complex subunit 2, mitochondrialcomplex III subunit 2cytochrome bc-1 complex core protein IIubiquinol-cytochrome c reductase core protein IIubiquinol-cytochrome-c reductase complex core protein 2NFU1 iron-sulfur cluster scaffold homolog, mitochondrialHIRA-interacting protein 5NifU-like C-terminal domain containingiron-sulfur cluster scaffold protein
Modification date2020031320200313
UniProtAcc.

Q9UMS0

Ensembl transtripts involved in fusion geneENST00000268379, ENST00000561553, 
ENST00000303698, ENST00000394305, 
ENST00000462320, ENST00000471185, 
ENST00000410022, 
Fusion gene scores* DoF score12 X 8 X 6=5765 X 7 X 6=210
# samples 137
** MAII scorelog2(13/576*10)=-2.14755718841386
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: UQCRC2 [Title/Abstract] AND NFU1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointUQCRC2(21987564)-NFU1(69627670), # 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
TgeneNFU1

GO:0016226

iron-sulfur cluster assembly

12886008|28906594


check buttonFusion gene breakpoints across UQCRC2 (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 NFU1 (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 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
ChimerDB4HNSCTCGA-BB-7871UQCRC2chr16

21987564

+NFU1chr2

69627670

-


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Fusion Gene ORF analysis for UQCRC2-NFU1

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-intronENST00000268379ENST00000303698UQCRC2chr16

21987564

+NFU1chr2

69627670

-
5CDS-intronENST00000268379ENST00000394305UQCRC2chr16

21987564

+NFU1chr2

69627670

-
5CDS-intronENST00000268379ENST00000462320UQCRC2chr16

21987564

+NFU1chr2

69627670

-
5CDS-intronENST00000268379ENST00000471185UQCRC2chr16

21987564

+NFU1chr2

69627670

-
5CDS-intronENST00000561553ENST00000303698UQCRC2chr16

21987564

+NFU1chr2

69627670

-
5CDS-intronENST00000561553ENST00000394305UQCRC2chr16

21987564

+NFU1chr2

69627670

-
5CDS-intronENST00000561553ENST00000462320UQCRC2chr16

21987564

+NFU1chr2

69627670

-
5CDS-intronENST00000561553ENST00000471185UQCRC2chr16

21987564

+NFU1chr2

69627670

-
In-frameENST00000268379ENST00000410022UQCRC2chr16

21987564

+NFU1chr2

69627670

-
In-frameENST00000561553ENST00000410022UQCRC2chr16

21987564

+NFU1chr2

69627670

-

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)
ENST00000268379UQCRC2chr1621987564+ENST00000410022NFU1chr269627670-260418887642107447
ENST00000561553UQCRC2chr1621987564+ENST00000410022NFU1chr269627670-18931177531396447

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
ENST00000268379ENST00000410022UQCRC2chr1621987564+NFU1chr269627670-0.0011913360.9988086
ENST00000561553ENST00000410022UQCRC2chr1621987564+NFU1chr269627670-0.0010669250.998933

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Fusion Genomic Features for UQCRC2-NFU1


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

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 UQCRC2-NFU1


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/chr16:21987564/chr2:69627670)
- 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
.NFU1

Q9UMS0

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: Iron-sulfur cluster scaffold protein which can assemble [4Fe-4S] clusters and deliver them to target proteins. {ECO:0000269|PubMed:12886008, ECO:0000269|PubMed:27818104, ECO:0000269|PubMed:28906594}.

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
TgeneNFU1chr16:21987564chr2:69627670ENST0000030369858173_241157231.0RegionNote=NifU
TgeneNFU1chr16:21987564chr2:69627670ENST0000039430547173_24140114.0RegionNote=NifU
TgeneNFU1chr16:21987564chr2:69627670ENST0000046232025173_24140114.0RegionNote=NifU

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneNFU1chr16:21987564chr2:69627670ENST0000041002258173_241181255.0RegionNote=NifU


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Fusion Gene Sequence for UQCRC2-NFU1


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.
>97012_97012_1_UQCRC2-NFU1_UQCRC2_chr16_21987564_ENST00000268379_NFU1_chr2_69627670_ENST00000410022_length(transcript)=2604nt_BP=1888nt
ACTATCCAAAACATTTCTATTTTCCTAACACAAAAACTATAGCTAAGTTTTTATATTCTATGTAGCCCCAGCCTAGGACGTAAATTCCAC
GAGACCAAAAGCCTTGTGATGATTCCCCGAGGTTGCTGACCCTCCCGGTGTGTCCCGGGCCTGCTCTGGGGGACACAGCGGCGAATACGT
TGAACGAGGCCCCTGTTTCACGGAGCTAAAGATCCAGTAAGGACTTCACCCAGCGAGAGGCAACTACGCCGGGCTTCGATACCCAATACC
TCTGCAGAAAGGTGGAGTGGCAGGAATCTCCTGAAGCCTCCAACGTCCAGGAACGCGGAAACCCAGGGCCTCCAGTGCAGGTGTCATCCC
GGAGGGCGCATGCGGAGTCCCAAGAGAGGCGCGTCCCATTGGACAATGCTGAGCGGAAGAGCCCAAGATAGCGGGGGGAGTTGTGACAGG
CTGCTGCAGACGTACTTAGAAAAGGGGTGCATACTGGATATTCAGGCTAGGAGAAGAACGCAAAAAGCAGTGACGTACATTATTCTCTGC
ATATATTTACTTGGGAAATTGTGCGTCTCCCTATTCTGAGTCTTGGAGGAATTGGACTGGTCCAACCTTATAAAGAGAGCAGTAGAGCGC
GGCAGTATAGAGAGTACCTCACGAAGGGGACGTGGGAAAGTGTTAGCGGGGAACGCTGGGAAACTCCCGGCCTCCGCCACCATCTTGCTT
TCCTTTAATCCGGCAGTGACCGTGTGTCAGAACAATCTTGAATCATGAAGCTACTAACCAGAGCCGGCTCTTTCTCGAGATTTTATTCCC
TCAAAGTTGCCCCCAAAGTTAAAGCCACAGCTGCGCCTGCAGGAGCACCGCCACAACCTCAGGACCTTGAGTTTACCAAGTTACCAAATG
GCTTGGTGATTGCTTCTTTGGAAAACTATTCTCCTGTATCAAGAATTGGTTTGTTCATTAAAGCAGGCAGTAGATATGAGGACTTCAGCA
ATTTAGGAACCACCCATTTGCTGCGTCTTACATCCAGTCTGACGACAAAAGGAGCTTCATCTTTCAAGATAACCCGTGGAATTGAAGCAG
TTGGTGGCAAATTAAGTGTGACCGCAACAAGGGAAAACATGGCTTATACTGTGGAATGCCTGCGGGGTGATGTTGATATTCTAATGGAGT
TCCTGCTCAATGTCACCACAGCACCAGAATTTCGTCGTTGGGAAGTAGCTGACCTTCAGCCTCAGCTAAAGATTGACAAAGCTGTGGCCT
TTCAGAATCCGCAGACTCATGTCATTGAAAATTTGCATGCAGCAGCTTACCGGAATGCCTTGGCTAATCCCTTGTATTGTCCTGACTATA
GGATTGGAAAAGTGACATCAGAGGAGTTACATTACTTCGTTCAGAACCATTTCACAAGTGCAAGAATGGCTTTGATTGGACTTGGTGTGA
GTCATCCTGTTCTAAAGCAAGTTGCTGAACAGTTTCTCAACATGAGGGGTGGGCTTGGTTTATCTGGTGCAAAGGCCAACTACCGTGGAG
GTGAAATCCGAGAACAGAATGGAGACAGTCTTGTCCATGCTGCTTTTGTAGCAGAAAGTGCTGTCGCGGGAAGTGCAGAGGCAAATGCAT
TTAGTGTTCTTCAGCATGTCCTCGGTGCTGGGCCACATGTCAAGAGGGGCAGCAACACCACCAGCCATCTGCACCAGGCTGTTGCCAAGG
CAACTCAGCAGCCATTTGATGTTTCTGCATTTAATGCCAGTTACTCAGATTCTGGACTCTTTGGGATTTATACTATCTCCCAGGCCACAG
CTGCTGGAGATGTTATCAAGGCTGCCTATAATCAAGTAAAAACAATAGCTCAAGGAAACCTTTCCAACACAGATGTCCAAGCTGCCAAGC
CAACTGTGCAGGAAGATGGAGGGGATGTAATCTACAAAGGCTTTGAAGATGGCATTGTACAGCTGAAACTCCAGGGTTCTTGTACCAGCT
GCCCTAGTTCAATCATTACTCTGAAAAATGGAATTCAGAACATGCTGCAGTTTTATATTCCGGAGGTAGAAGGCGTAGAACAGGTTATGG
ATGATGAATCAGATGAAAAAGAAGCAAACTCACCTTAAAATAATCTGGATTTTCTTTGGGCATAACAGTCAGACTTGTTGATAATATATA
TCAAGTTTTTATTATTAATATGCTGAGGAACTTGAAGATTAATAAAATATGCTCTTCAGAGAATGATATATAAATATTGCATGTTTGCTT
TACCTCATATGAGTTATTTATAACCTCTTGAATCATCTTCTGTACACGTGGATTTTATCCAAGGATATTTTTATTTTTGTCCCTCATTTC
CCATGGCTCTTTCTTTGCATATGTGTGAAGGAGTTTAAAATACATTTCCCCCCATCTAATTTATTTACTTTTTTCCATACAGGAAGAAAC
AGAATGCTTTTTAGAATATTCTAAAATAGCTTTTTGTGAAATATCTAAAACTATTTTTACTGAAGTTTTTAGCTTAAGAAACAGCTAAAC

>97012_97012_1_UQCRC2-NFU1_UQCRC2_chr16_21987564_ENST00000268379_NFU1_chr2_69627670_ENST00000410022_length(amino acids)=447AA_BP=375
MKLLTRAGSFSRFYSLKVAPKVKATAAPAGAPPQPQDLEFTKLPNGLVIASLENYSPVSRIGLFIKAGSRYEDFSNLGTTHLLRLTSSLT
TKGASSFKITRGIEAVGGKLSVTATRENMAYTVECLRGDVDILMEFLLNVTTAPEFRRWEVADLQPQLKIDKAVAFQNPQTHVIENLHAA
AYRNALANPLYCPDYRIGKVTSEELHYFVQNHFTSARMALIGLGVSHPVLKQVAEQFLNMRGGLGLSGAKANYRGGEIREQNGDSLVHAA
FVAESAVAGSAEANAFSVLQHVLGAGPHVKRGSNTTSHLHQAVAKATQQPFDVSAFNASYSDSGLFGIYTISQATAAGDVIKAAYNQVKT

--------------------------------------------------------------
>97012_97012_2_UQCRC2-NFU1_UQCRC2_chr16_21987564_ENST00000561553_NFU1_chr2_69627670_ENST00000410022_length(transcript)=1893nt_BP=1177nt
ATCTTGCTTTCCTTTAATCCGGCAGTGACCGTGTGTCAGAACAATCTTGAATCATGAAGCTACTAACCAGAGCCGGCTCTTTCTCGAGAT
TTTATTCCCTCAAAGTTGCCCCCAAAGTTAAAGCCACAGCTGCGCCTGCAGGAGCACCGCCACAACCTCAGGACCTTGAGTTTACCAAGT
TACCAAATGGCTTGGTGATTGCTTCTTTGGAAAACTATTCTCCTGTATCAAGAATTGGTTTGTTCATTAAAGCAGGCAGTAGATATGAGG
ACTTCAGCAATTTAGGAACCACCCATTTGCTGCGTCTTACATCCAGTCTGACGACAAAAGGAGCTTCATCTTTCAAGATAACCCGTGGAA
TTGAAGCAGTTGGTGGCAAATTAAGTGTGACCGCAACAAGGGAAAACATGGCTTATACTGTGGAATGCCTGCGGGGTGATGTTGATATTC
TAATGGAGTTCCTGCTCAATGTCACCACAGCACCAGAATTTCGTCGTTGGGAAGTAGCTGACCTTCAGCCTCAGCTAAAGATTGACAAAG
CTGTGGCCTTTCAGAATCCGCAGACTCATGTCATTGAAAATTTGCATGCAGCAGCTTACCGGAATGCCTTGGCTAATCCCTTGTATTGTC
CTGACTATAGGATTGGAAAAGTGACATCAGAGGAGTTACATTACTTCGTTCAGAACCATTTCACAAGTGCAAGAATGGCTTTGATTGGAC
TTGGTGTGAGTCATCCTGTTCTAAAGCAAGTTGCTGAACAGTTTCTCAACATGAGGGGTGGGCTTGGTTTATCTGGTGCAAAGGCCAACT
ACCGTGGAGGTGAAATCCGAGAACAGAATGGAGACAGTCTTGTCCATGCTGCTTTTGTAGCAGAAAGTGCTGTCGCGGGAAGTGCAGAGG
CAAATGCATTTAGTGTTCTTCAGCATGTCCTCGGTGCTGGGCCACATGTCAAGAGGGGCAGCAACACCACCAGCCATCTGCACCAGGCTG
TTGCCAAGGCAACTCAGCAGCCATTTGATGTTTCTGCATTTAATGCCAGTTACTCAGATTCTGGACTCTTTGGGATTTATACTATCTCCC
AGGCCACAGCTGCTGGAGATGTTATCAAGGCTGCCTATAATCAAGTAAAAACAATAGCTCAAGGAAACCTTTCCAACACAGATGTCCAAG
CTGCCAAGCCAACTGTGCAGGAAGATGGAGGGGATGTAATCTACAAAGGCTTTGAAGATGGCATTGTACAGCTGAAACTCCAGGGTTCTT
GTACCAGCTGCCCTAGTTCAATCATTACTCTGAAAAATGGAATTCAGAACATGCTGCAGTTTTATATTCCGGAGGTAGAAGGCGTAGAAC
AGGTTATGGATGATGAATCAGATGAAAAAGAAGCAAACTCACCTTAAAATAATCTGGATTTTCTTTGGGCATAACAGTCAGACTTGTTGA
TAATATATATCAAGTTTTTATTATTAATATGCTGAGGAACTTGAAGATTAATAAAATATGCTCTTCAGAGAATGATATATAAATATTGCA
TGTTTGCTTTACCTCATATGAGTTATTTATAACCTCTTGAATCATCTTCTGTACACGTGGATTTTATCCAAGGATATTTTTATTTTTGTC
CCTCATTTCCCATGGCTCTTTCTTTGCATATGTGTGAAGGAGTTTAAAATACATTTCCCCCCATCTAATTTATTTACTTTTTTCCATACA
GGAAGAAACAGAATGCTTTTTAGAATATTCTAAAATAGCTTTTTGTGAAATATCTAAAACTATTTTTACTGAAGTTTTTAGCTTAAGAAA
CAGCTAAACAAGTCTGTTTTAAAAATGGTATCTGGCTACTAGCCCCCAATTAAGTAGCAAAGAACTGCTTAAGACCAAAAAAAAGAAATC

>97012_97012_2_UQCRC2-NFU1_UQCRC2_chr16_21987564_ENST00000561553_NFU1_chr2_69627670_ENST00000410022_length(amino acids)=447AA_BP=375
MKLLTRAGSFSRFYSLKVAPKVKATAAPAGAPPQPQDLEFTKLPNGLVIASLENYSPVSRIGLFIKAGSRYEDFSNLGTTHLLRLTSSLT
TKGASSFKITRGIEAVGGKLSVTATRENMAYTVECLRGDVDILMEFLLNVTTAPEFRRWEVADLQPQLKIDKAVAFQNPQTHVIENLHAA
AYRNALANPLYCPDYRIGKVTSEELHYFVQNHFTSARMALIGLGVSHPVLKQVAEQFLNMRGGLGLSGAKANYRGGEIREQNGDSLVHAA
FVAESAVAGSAEANAFSVLQHVLGAGPHVKRGSNTTSHLHQAVAKATQQPFDVSAFNASYSDSGLFGIYTISQATAAGDVIKAAYNQVKT

--------------------------------------------------------------

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Fusion Gene PPI Analysis for UQCRC2-NFU1


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 UQCRC2-NFU1


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 UQCRC2-NFU1


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