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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:AASDH-IRF3 (FusionGDB2 ID:111)

Fusion Gene Summary for AASDH-IRF3

check button Fusion gene summary
Fusion gene informationFusion gene name: AASDH-IRF3
Fusion gene ID: 111
HgeneTgene
Gene symbol

AASDH

IRF3

Gene ID

132949

3661

Gene nameaminoadipate-semialdehyde dehydrogenaseinterferon regulatory factor 3
SynonymsACSF4|LYS2|NRPS1098|NRPS998IIAE7
Cytomap

4q12

19q13.33

Type of geneprotein-codingprotein-coding
Descriptionbeta-alanine-activating enzyme2-aminoadipic 6-semialdehyde dehydrogenaseacyl-CoA synthetase family member 4non-ribosomal peptide synthetase 1098non-ribosomal peptide synthetase 998interferon regulatory factor 3
Modification date2020031320200315
UniProtAcc

Q4L235

Q14653

Ensembl transtripts involved in fusion geneENST00000205214, ENST00000434343, 
ENST00000451613, ENST00000502617, 
ENST00000510762, ENST00000513376, 
ENST00000602986, 
ENST00000309877, 
ENST00000377135, ENST00000377139, 
ENST00000442265, ENST00000593922, 
ENST00000596765, ENST00000596822, 
ENST00000597198, ENST00000598808, 
ENST00000599144, ENST00000599223, 
ENST00000599680, ENST00000600022, 
ENST00000600911, ENST00000601291, 
Fusion gene scores* DoF score6 X 7 X 4=1688 X 5 X 7=280
# samples 79
** MAII scorelog2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/280*10)=-1.63742992061529
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AASDH [Title/Abstract] AND IRF3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAASDH(57204721)-IRF3(50165205), # 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
TgeneIRF3

GO:0032481

positive regulation of type I interferon production

25636800

TgeneIRF3

GO:0035666

TRIF-dependent toll-like receptor signaling pathway

25636800

TgeneIRF3

GO:0045944

positive regulation of transcription by RNA polymerase II

9660935


check buttonFusion gene breakpoints across AASDH (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 IRF3 (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/ABG315188AASDHchr4

57204721

+IRF3chr19

50165205

+


Top

Fusion Gene ORF analysis for AASDH-IRF3

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
intron-intronENST00000205214ENST00000309877AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000205214ENST00000377135AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000205214ENST00000377139AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000205214ENST00000442265AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000205214ENST00000593922AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000205214ENST00000596765AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000205214ENST00000596822AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000205214ENST00000597198AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000205214ENST00000598808AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000205214ENST00000599144AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000205214ENST00000599223AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000205214ENST00000599680AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000205214ENST00000600022AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000205214ENST00000600911AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000205214ENST00000601291AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000434343ENST00000309877AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000434343ENST00000377135AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000434343ENST00000377139AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000434343ENST00000442265AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000434343ENST00000593922AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000434343ENST00000596765AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000434343ENST00000596822AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000434343ENST00000597198AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000434343ENST00000598808AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000434343ENST00000599144AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000434343ENST00000599223AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000434343ENST00000599680AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000434343ENST00000600022AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000434343ENST00000600911AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000434343ENST00000601291AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000451613ENST00000309877AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000451613ENST00000377135AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000451613ENST00000377139AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000451613ENST00000442265AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000451613ENST00000593922AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000451613ENST00000596765AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000451613ENST00000596822AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000451613ENST00000597198AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000451613ENST00000598808AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000451613ENST00000599144AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000451613ENST00000599223AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000451613ENST00000599680AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000451613ENST00000600022AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000451613ENST00000600911AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000451613ENST00000601291AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000502617ENST00000309877AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000502617ENST00000377135AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000502617ENST00000377139AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000502617ENST00000442265AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000502617ENST00000593922AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000502617ENST00000596765AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000502617ENST00000596822AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000502617ENST00000597198AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000502617ENST00000598808AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000502617ENST00000599144AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000502617ENST00000599223AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000502617ENST00000599680AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000502617ENST00000600022AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000502617ENST00000600911AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000502617ENST00000601291AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000510762ENST00000309877AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000510762ENST00000377135AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000510762ENST00000377139AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000510762ENST00000442265AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000510762ENST00000593922AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000510762ENST00000596765AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000510762ENST00000596822AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000510762ENST00000597198AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000510762ENST00000598808AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000510762ENST00000599144AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000510762ENST00000599223AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000510762ENST00000599680AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000510762ENST00000600022AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000510762ENST00000600911AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000510762ENST00000601291AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000513376ENST00000309877AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000513376ENST00000377135AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000513376ENST00000377139AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000513376ENST00000442265AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000513376ENST00000593922AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000513376ENST00000596765AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000513376ENST00000596822AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000513376ENST00000597198AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000513376ENST00000598808AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000513376ENST00000599144AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000513376ENST00000599223AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000513376ENST00000599680AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000513376ENST00000600022AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000513376ENST00000600911AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000513376ENST00000601291AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000602986ENST00000309877AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000602986ENST00000377135AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000602986ENST00000377139AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000602986ENST00000442265AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000602986ENST00000593922AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000602986ENST00000596765AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000602986ENST00000596822AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000602986ENST00000597198AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000602986ENST00000598808AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000602986ENST00000599144AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000602986ENST00000599223AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000602986ENST00000599680AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000602986ENST00000600022AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000602986ENST00000600911AASDHchr4

57204721

+IRF3chr19

50165205

+
intron-intronENST00000602986ENST00000601291AASDHchr4

57204721

+IRF3chr19

50165205

+

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 AASDH-IRF3


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 AASDH-IRF3


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/:57204721/:50165205)
- 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
AASDH

Q4L235

IRF3

Q14653

FUNCTION: Covalently binds beta-alanine in an ATP-dependent manner to form a thioester bond with its phosphopantetheine group and transfers it to an, as yet, unknown acceptor. May be required for a post-translational protein modification or for post-transcriptional modification of an RNA. {ECO:0000250|UniProtKB:Q80WC9}.FUNCTION: Key transcriptional regulator of type I interferon (IFN)-dependent immune responses which plays a critical role in the innate immune response against DNA and RNA viruses (PubMed:22394562, PubMed:25636800, PubMed:27302953). Regulates the transcription of type I IFN genes (IFN-alpha and IFN-beta) and IFN-stimulated genes (ISG) by binding to an interferon-stimulated response element (ISRE) in their promoters (PubMed:11846977, PubMed:16846591, PubMed:16979567, PubMed:20049431, PubMed:32972995). Acts as a more potent activator of the IFN-beta (IFNB) gene than the IFN-alpha (IFNA) gene and plays a critical role in both the early and late phases of the IFNA/B gene induction (PubMed:16846591, PubMed:16979567, PubMed:20049431). Found in an inactive form in the cytoplasm of uninfected cells and following viral infection, double-stranded RNA (dsRNA), or toll-like receptor (TLR) signaling, is phosphorylated by IKBKE and TBK1 kinases (PubMed:22394562, PubMed:25636800, PubMed:27302953). This induces a conformational change, leading to its dimerization and nuclear localization and association with CREB binding protein (CREBBP) to form dsRNA-activated factor 1 (DRAF1), a complex which activates the transcription of the type I IFN and ISG genes (PubMed:16154084, PubMed:27302953, PubMed:33440148). Can activate distinct gene expression programs in macrophages and can induce significant apoptosis in primary macrophages (PubMed:16846591). In response to Sendai virus infection, is recruited by TOMM70:HSP90AA1 to mitochondrion and forms an apoptosis complex TOMM70:HSP90AA1:IRF3:BAX inducing apoptosis (PubMed:25609812). Key transcription factor regulating the IFN response during SARS-CoV-2 infection (PubMed:33440148). {ECO:0000269|PubMed:16154084, ECO:0000269|PubMed:22394562, ECO:0000269|PubMed:25609812, ECO:0000269|PubMed:25636800, ECO:0000269|PubMed:27302953, ECO:0000269|PubMed:31413131, ECO:0000269|PubMed:32972995, ECO:0000269|PubMed:33440148, ECO:0000303|PubMed:11846977, ECO:0000303|PubMed:16846591, ECO:0000303|PubMed:16979567, ECO:0000303|PubMed:20049431}.

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 AASDH-IRF3


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 AASDH-IRF3


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 AASDH-IRF3


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 AASDH-IRF3


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