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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:AIFM2-NQO1 (FusionGDB2 ID:HG84883TG1728)

Fusion Gene Summary for AIFM2-NQO1

check button Fusion gene summary
Fusion gene informationFusion gene name: AIFM2-NQO1
Fusion gene ID: hg84883tg1728
HgeneTgene
Gene symbol

AIFM2

NQO1

Gene ID

84883

1728

Gene nameapoptosis inducing factor mitochondria associated 2NAD(P)H quinone dehydrogenase 1
SynonymsAMID|PRG3DHQU|DIA4|DTD|NMOR1|NMORI|QR1
Cytomap('AIFM2')('NQO1')

10q22.1

16q22.1

Type of geneprotein-codingprotein-coding
Descriptionapoptosis-inducing factor 2apoptosis-inducing factor (AIF)-homologous mitochondrion-associated inducer of deathapoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of deathapoptosis-inducing factor, mitochondrion-associated, 2p53-respNAD(P)H dehydrogenase [quinone] 1DT-diaphoraseNAD(P)H dehydrogenase, quinone 1NAD(P)H:Quinone acceptor oxidoreductase type 1NAD(P)H:menadione oxidoreductase 1NAD(P)H:quinone oxidoreductase 1NAD(P)H:quinone oxireductaseazoreductasediaphorase (NADH/
Modification date2020031320200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000307864, ENST00000373248, 
ENST00000482166, 
Fusion gene scores* DoF score3 X 3 X 1=95 X 6 X 2=60
# samples 36
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(6/60*10)=0
Context

PubMed: AIFM2 [Title/Abstract] AND NQO1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAIFM2(71873256)-NQO1(69744042), # 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
HgeneAIFM2

GO:0006743

ubiquinone metabolic process

31634899|31634900

HgeneAIFM2

GO:0008637

apoptotic mitochondrial changes

11980907

HgeneAIFM2

GO:0043065

positive regulation of apoptotic process

11980907



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


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Fusion Gene ORF analysis for AIFM2-NQO1

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

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 AIFM2-NQO1


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)


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Fusion Protein Features for AIFM2-NQO1


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/:71873256/:69744042)
- 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
..
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: 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}.

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 AIFM2-NQO1


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 AIFM2-NQO1


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 AIFM2-NQO1


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 AIFM2-NQO1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0028797Occupational Diseases4CTD_human
TgeneC0007131Non-Small Cell Lung Carcinoma2CTD_human
TgeneC0023452Childhood Acute Lymphoblastic Leukemia2CTD_human
TgeneC0023453L2 Acute Lymphoblastic Leukemia2CTD_human
TgeneC0023895Liver diseases2CTD_human
TgeneC0027659Neoplasms, Experimental2CTD_human
TgeneC0086565Liver Dysfunction2CTD_human
TgeneC1961102Precursor Cell Lymphoblastic Leukemia Lymphoma2CTD_human
TgeneC0002152Alloxan Diabetes1CTD_human
TgeneC0004096Asthma1CTD_human
TgeneC0005684Malignant neoplasm of urinary bladder1CTD_human
TgeneC0005695Bladder Neoplasm1CTD_human
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0006826Malignant Neoplasms1CTD_human
TgeneC0008370Cholestasis1CTD_human
TgeneC0009402Colorectal Carcinoma1CTD_human
TgeneC0009404Colorectal Neoplasms1CTD_human
TgeneC0011616Contact Dermatitis1CTD_human
TgeneC0011853Diabetes Mellitus, Experimental1CTD_human
TgeneC0019061Hemolytic-Uremic Syndrome1CTD_human
TgeneC0019080Hemorrhage1CTD_human
TgeneC0020456Hyperglycemia1CTD_human
TgeneC0022658Kidney Diseases1CTD_human
TgeneC0022660Kidney Failure, Acute1CTD_human
TgeneC0023466Leukemia, Monocytic, Chronic1CTD_human
TgeneC0023470Myeloid Leukemia1CTD_human
TgeneC0026764Multiple Myeloma1CTD_human
TgeneC0027651Neoplasms1CTD_human
TgeneC0028754Obesity1CTD_human
TgeneC0030354Papilloma1CTD_human
TgeneC0030567Parkinson Disease1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0038433Streptozotocin Diabetes1CTD_human
TgeneC0086692Benign Neoplasm1CTD_human
TgeneC0149504Encephalopathy, Toxic1CTD_human
TgeneC0154659Toxic Encephalitis1CTD_human
TgeneC0162351Contact hypersensitivity1CTD_human
TgeneC0205874Papilloma, Squamous Cell1CTD_human
TgeneC0205875Papillomatosis1CTD_human
TgeneC0235032Neurotoxicity Syndromes1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0400966Non-alcoholic Fatty Liver Disease1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1565662Acute Kidney Insufficiency1CTD_human
TgeneC1846707SPINOCEREBELLAR ATAXIA 171CTD_human
TgeneC1855520Hyperglycemia, Postprandial1CTD_human
TgeneC2608079WARFARIN SENSITIVITY (disorder)1CTD_human
TgeneC2609414Acute kidney injury1CTD_human
TgeneC3241937Nonalcoholic Steatohepatitis1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human