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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:NDUFA12-MRPL11 (FusionGDB2 ID:58052)

Fusion Gene Summary for NDUFA12-MRPL11

check button Fusion gene summary
Fusion gene informationFusion gene name: NDUFA12-MRPL11
Fusion gene ID: 58052
HgeneTgene
Gene symbol

NDUFA12

MRPL11

Gene ID

55967

65003

Gene nameNADH:ubiquinone oxidoreductase subunit A12mitochondrial ribosomal protein L11
SynonymsB17.2|DAP13|MC1DN23CGI-113|L11MT|MRP-L11
Cytomap

12q22

11q13.2

Type of geneprotein-codingprotein-coding
DescriptionNADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1213 kDa differentiation-associated proteinCI-B17.2NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12NADH-ubiquinone oxidoreductase subunit B17.2complex I B17.2 subunit39S ribosomal protein L11, mitochondrialmitochondrial large ribosomal subunit protein uL11m
Modification date2020031320200313
UniProtAcc

Q9UI09

Q9Y3B7

Ensembl transtripts involved in fusion geneENST00000547157, ENST00000327772, 
ENST00000547986, ENST00000550187, 
ENST00000329819, ENST00000524576, 
ENST00000310999, ENST00000430466, 
Fusion gene scores* DoF score6 X 3 X 3=542 X 1 X 2=4
# samples 52
** MAII scorelog2(5/54*10)=-0.111031312388744
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: NDUFA12 [Title/Abstract] AND MRPL11 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNDUFA12(95396582)-MRPL11(66205730), # 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
HgeneNDUFA12

GO:0006979

response to oxidative stress

12857734


check buttonFusion gene breakpoints across NDUFA12 (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 MRPL11 (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
ChimerDB4STADTCGA-BR-8078-01ANDUFA12chr12

95396582

-MRPL11chr11

66205730

-


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Fusion Gene ORF analysis for NDUFA12-MRPL11

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-5UTRENST00000547157ENST00000329819NDUFA12chr12

95396582

-MRPL11chr11

66205730

-
5CDS-5UTRENST00000547157ENST00000524576NDUFA12chr12

95396582

-MRPL11chr11

66205730

-
In-frameENST00000547157ENST00000310999NDUFA12chr12

95396582

-MRPL11chr11

66205730

-
In-frameENST00000547157ENST00000430466NDUFA12chr12

95396582

-MRPL11chr11

66205730

-
intron-3CDSENST00000327772ENST00000310999NDUFA12chr12

95396582

-MRPL11chr11

66205730

-
intron-3CDSENST00000327772ENST00000430466NDUFA12chr12

95396582

-MRPL11chr11

66205730

-
intron-3CDSENST00000547986ENST00000310999NDUFA12chr12

95396582

-MRPL11chr11

66205730

-
intron-3CDSENST00000547986ENST00000430466NDUFA12chr12

95396582

-MRPL11chr11

66205730

-
intron-3CDSENST00000550187ENST00000310999NDUFA12chr12

95396582

-MRPL11chr11

66205730

-
intron-3CDSENST00000550187ENST00000430466NDUFA12chr12

95396582

-MRPL11chr11

66205730

-
intron-5UTRENST00000327772ENST00000329819NDUFA12chr12

95396582

-MRPL11chr11

66205730

-
intron-5UTRENST00000327772ENST00000524576NDUFA12chr12

95396582

-MRPL11chr11

66205730

-
intron-5UTRENST00000547986ENST00000329819NDUFA12chr12

95396582

-MRPL11chr11

66205730

-
intron-5UTRENST00000547986ENST00000524576NDUFA12chr12

95396582

-MRPL11chr11

66205730

-
intron-5UTRENST00000550187ENST00000329819NDUFA12chr12

95396582

-MRPL11chr11

66205730

-
intron-5UTRENST00000550187ENST00000524576NDUFA12chr12

95396582

-MRPL11chr11

66205730

-

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)
ENST00000547157NDUFA12chr1295396582-ENST00000310999MRPL11chr1166205730-151012220577185
ENST00000547157NDUFA12chr1295396582-ENST00000430466MRPL11chr1166205730-151012220577185

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
ENST00000547157ENST00000310999NDUFA12chr1295396582-MRPL11chr1166205730-0.0009263860.9990736
ENST00000547157ENST00000430466NDUFA12chr1295396582-MRPL11chr1166205730-0.0009263860.9990736

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Fusion Genomic Features for NDUFA12-MRPL11


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 NDUFA12-MRPL11


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/chr12:95396582/chr11:66205730)
- 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
NDUFA12

Q9UI09

MRPL11

Q9Y3B7

FUNCTION: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. {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

- 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 NDUFA12-MRPL11


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.
>58052_58052_1_NDUFA12-MRPL11_NDUFA12_chr12_95396582_ENST00000547157_MRPL11_chr11_66205730_ENST00000310999_length(transcript)=1510nt_BP=122nt
GGCGGGGCCAGCGAGGCAAGATGGAGTTAGTGCAGGTCCTGAAACGCGGGCTGCAGCAGATCACCGGCCACGGCGGTCTCCGAGGCTATC
TACGGGTTTTTTTCAGGACAAATGATGCGAAGAGAGGCGTTTCCATCAACCAGTTTTGCAAGGAGTTCAATGAGAGGACAAAGGACATCA
AGGAAGGCATTCCTCTGCCTACCAAGATTTTAGTGAAGCCTGACAGGACATTTGAAATTAAGATTGGACAGCCCACTGTTTCCTACTTCC
TGAAGGCAGCAGCTGGGATTGAAAAGGGGGCCCGGCAAACAGGGAAAGAGGTGGCAGGCCTGGTGACCTTGAAGCATGTGTATGAGATTG
CCCGCATCAAAGCTCAGGATGAGGCATTTGCCCTGCAGGATGTACCCCTGTCGTCTGTTGTCCGCTCCATCATCGGGTCTGCCCGTTCTC
TGGGCATTCGCGTGGTGAAGGACCTCAGTTCAGAAGAGCTTGCAGCTTTCCAGAAGGAACGAGCCATCTTCCTGGCTGCTCAGAAGGAGG
CAGATTTGGCTGCCCAAGAAGAAGCTGCCAAGAAGTGACCCTTGCCCCACCAACTCCCAGATTTCAAAGGAGGTAGTTGCAAAAGCTGTG
CCCAAGGGGAGGAAGGAGGTCACACCAATATGATGATGGTTTTCATGACTTTGAATGATATATTTTTGTACATCTAGCTGTATCGAGGCA
TCAGGCCTGAATAAACATCCTTTCTTACCCACTGTCATCTTCTATCTTGGGACCTCAGGGAAGGGAACCAGTACTGGTGGTAGCCAATAT
GGGCAGACATTAGGAAATTGGGGTCTTCATACTGCTTCTCAGATGTGCAAACTGAGGTTCAGCCAAGCAAAGTAACTTGCCCAGGTCCTT
TTTTTTCTTTTTTAAGTTATAATTTTGTTTTATTGCCCAGGTTCTGAATTGGTGCCAGAGGTAGGAATAGAACCCAGGCCTTCTCATTTG
AAATCCTGTGTTCTTCCCCTCCCCAGGGTGGGAACTATGGTTGCTAGGGCTGAGGTGTATTGCTTACTTCTTCCATCAAAAATCTCTTTT
ATCTCTGAACAACTTGCCACCTCTGCAGAAACAAGTCCCTGTGGAGATCTCAGTTCAGCCCCAGGCAGGGTTACTACATGGAGTACCCAG
ATCCCAGGGGCTACTTCAGGCCCTTCTACTAAGCTCCTGACCCTGGCTCTGGGTCAGATGTTGGCTGAACATGAACTATTGTAGGGCTGA
CAGCTACAGACCACAGAAAGAGCAAAGCTTCAGTAGGTTCCTGCCTGATGGAGAAGTCCTCGGGAAGCCCTTGGCCTTCTATTTCCTCAT
TGTCCTTTCAGAGAAGAGAGCAGGAGTTGGGGGAGAAAGGAGATTCGCATTTACTGACCATCTGTTATGTGCTAGACACTTCATTTTACA

>58052_58052_1_NDUFA12-MRPL11_NDUFA12_chr12_95396582_ENST00000547157_MRPL11_chr11_66205730_ENST00000310999_length(amino acids)=185AA_BP=34
MELVQVLKRGLQQITGHGGLRGYLRVFFRTNDAKRGVSINQFCKEFNERTKDIKEGIPLPTKILVKPDRTFEIKIGQPTVSYFLKAAAGI
EKGARQTGKEVAGLVTLKHVYEIARIKAQDEAFALQDVPLSSVVRSIIGSARSLGIRVVKDLSSEELAAFQKERAIFLAAQKEADLAAQE

--------------------------------------------------------------
>58052_58052_2_NDUFA12-MRPL11_NDUFA12_chr12_95396582_ENST00000547157_MRPL11_chr11_66205730_ENST00000430466_length(transcript)=1510nt_BP=122nt
GGCGGGGCCAGCGAGGCAAGATGGAGTTAGTGCAGGTCCTGAAACGCGGGCTGCAGCAGATCACCGGCCACGGCGGTCTCCGAGGCTATC
TACGGGTTTTTTTCAGGACAAATGATGCGAAGAGAGGCGTTTCCATCAACCAGTTTTGCAAGGAGTTCAATGAGAGGACAAAGGACATCA
AGGAAGGCATTCCTCTGCCTACCAAGATTTTAGTGAAGCCTGACAGGACATTTGAAATTAAGATTGGACAGCCCACTGTTTCCTACTTCC
TGAAGGCAGCAGCTGGGATTGAAAAGGGGGCCCGGCAAACAGGGAAAGAGGTGGCAGGCCTGGTGACCTTGAAGCATGTGTATGAGATTG
CCCGCATCAAAGCTCAGGATGAGGCATTTGCCCTGCAGGATGTACCCCTGTCGTCTGTTGTCCGCTCCATCATCGGGTCTGCCCGTTCTC
TGGGCATTCGCGTGGTGAAGGACCTCAGTTCAGAAGAGCTTGCAGCTTTCCAGAAGGAACGAGCCATCTTCCTGGCTGCTCAGAAGGAGG
CAGATTTGGCTGCCCAAGAAGAAGCTGCCAAGAAGTGACCCTTGCCCCACCAACTCCCAGATTTCAAAGGAGGTAGTTGCAAAAGCTGTG
CCCAAGGGGAGGAAGGAGGTCACACCAATATGATGATGGTTTTCATGACTTTGAATGATATATTTTTGTACATCTAGCTGTATCGAGGCA
TCAGGCCTGAATAAACATCCTTTCTTACCCACTGTCATCTTCTATCTTGGGACCTCAGGGAAGGGAACCAGTACTGGTGGTAGCCAATAT
GGGCAGACATTAGGAAATTGGGGTCTTCATACTGCTTCTCAGATGTGCAAACTGAGGTTCAGCCAAGCAAAGTAACTTGCCCAGGTCCTT
TTTTTTCTTTTTTAAGTTATAATTTTGTTTTATTGCCCAGGTTCTGAATTGGTGCCAGAGGTAGGAATAGAACCCAGGCCTTCTCATTTG
AAATCCTGTGTTCTTCCCCTCCCCAGGGTGGGAACTATGGTTGCTAGGGCTGAGGTGTATTGCTTACTTCTTCCATCAAAAATCTCTTTT
ATCTCTGAACAACTTGCCACCTCTGCAGAAACAAGTCCCTGTGGAGATCTCAGTTCAGCCCCAGGCAGGGTTACTACATGGAGTACCCAG
ATCCCAGGGGCTACTTCAGGCCCTTCTACTAAGCTCCTGACCCTGGCTCTGGGTCAGATGTTGGCTGAACATGAACTATTGTAGGGCTGA
CAGCTACAGACCACAGAAAGAGCAAAGCTTCAGTAGGTTCCTGCCTGATGGAGAAGTCCTCGGGAAGCCCTTGGCCTTCTATTTCCTCAT
TGTCCTTTCAGAGAAGAGAGCAGGAGTTGGGGGAGAAAGGAGATTCGCATTTACTGACCATCTGTTATGTGCTAGACACTTCATTTTACA

>58052_58052_2_NDUFA12-MRPL11_NDUFA12_chr12_95396582_ENST00000547157_MRPL11_chr11_66205730_ENST00000430466_length(amino acids)=185AA_BP=34
MELVQVLKRGLQQITGHGGLRGYLRVFFRTNDAKRGVSINQFCKEFNERTKDIKEGIPLPTKILVKPDRTFEIKIGQPTVSYFLKAAAGI
EKGARQTGKEVAGLVTLKHVYEIARIKAQDEAFALQDVPLSSVVRSIIGSARSLGIRVVKDLSSEELAAFQKERAIFLAAQKEADLAAQE

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

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Fusion Gene PPI Analysis for NDUFA12-MRPL11


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 NDUFA12-MRPL11


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 NDUFA12-MRPL11


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