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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:CACFD1-MX1 (FusionGDB2 ID:HG11094TG4599)

Fusion Gene Summary for CACFD1-MX1

check button Fusion gene summary
Fusion gene informationFusion gene name: CACFD1-MX1
Fusion gene ID: hg11094tg4599
HgeneTgene
Gene symbol

CACFD1

MX1

Gene ID

11094

4599

Gene namecalcium channel flower domain containing 1MX dynamin like GTPase 1
SynonymsC9orf7|D9S2135|FLOWERIFI-78K|IFI78|MX|MxA|lncMX1-215
Cytomap('CACFD1')('MX1')

9q34.2

21q22.3

Type of geneprotein-codingprotein-coding
Descriptioncalcium channel flower homologcalcium channel flower domain-containing protein 1interferon-induced GTP-binding protein Mx1interferon-induced protein p78interferon-inducible protein p78interferon-regulated resistance GTP-binding protein MxAmyxoma resistance protein 1myxovirus (influenza virus) resistance 1, interferon-inducible p
Modification date2020031320200313
UniProtAcc.

P20591

Ensembl transtripts involved in fusion geneENST00000489519, ENST00000316948, 
ENST00000540581, ENST00000291722, 
ENST00000542192, 
Fusion gene scores* DoF score1 X 1 X 1=16 X 7 X 5=210
# samples 18
** MAII scorelog2(1/1*10)=3.32192809488736log2(8/210*10)=-1.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CACFD1 [Title/Abstract] AND MX1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCACFD1(136330569)-MX1(42821064), # 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
TgeneMX1

GO:0045071

negative regulation of viral genome replication

14687945|15047845|16202617

TgeneMX1

GO:0051607

defense response to virus

21478870



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
ChimerDB4GBMTCGA-14-1402-02ACACFD1chr9

136330569

+MX1chr21

42821064

+


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Fusion Gene ORF analysis for CACFD1-MX1

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-intronENST00000489519ENST00000288383CACFD1chr9

136330569

+MX1chr21

42821064

+
3UTR-intronENST00000489519ENST00000398598CACFD1chr9

136330569

+MX1chr21

42821064

+
3UTR-intronENST00000489519ENST00000398600CACFD1chr9

136330569

+MX1chr21

42821064

+
3UTR-intronENST00000489519ENST00000455164CACFD1chr9

136330569

+MX1chr21

42821064

+
3UTR-intronENST00000489519ENST00000490220CACFD1chr9

136330569

+MX1chr21

42821064

+
5CDS-intronENST00000316948ENST00000288383CACFD1chr9

136330569

+MX1chr21

42821064

+
5CDS-intronENST00000316948ENST00000398598CACFD1chr9

136330569

+MX1chr21

42821064

+
5CDS-intronENST00000316948ENST00000398600CACFD1chr9

136330569

+MX1chr21

42821064

+
5CDS-intronENST00000316948ENST00000455164CACFD1chr9

136330569

+MX1chr21

42821064

+
5CDS-intronENST00000316948ENST00000490220CACFD1chr9

136330569

+MX1chr21

42821064

+
5CDS-intronENST00000540581ENST00000288383CACFD1chr9

136330569

+MX1chr21

42821064

+
5CDS-intronENST00000540581ENST00000398598CACFD1chr9

136330569

+MX1chr21

42821064

+
5CDS-intronENST00000540581ENST00000398600CACFD1chr9

136330569

+MX1chr21

42821064

+
5CDS-intronENST00000540581ENST00000455164CACFD1chr9

136330569

+MX1chr21

42821064

+
5CDS-intronENST00000540581ENST00000490220CACFD1chr9

136330569

+MX1chr21

42821064

+
intron-intronENST00000291722ENST00000288383CACFD1chr9

136330569

+MX1chr21

42821064

+
intron-intronENST00000291722ENST00000398598CACFD1chr9

136330569

+MX1chr21

42821064

+
intron-intronENST00000291722ENST00000398600CACFD1chr9

136330569

+MX1chr21

42821064

+
intron-intronENST00000291722ENST00000455164CACFD1chr9

136330569

+MX1chr21

42821064

+
intron-intronENST00000291722ENST00000490220CACFD1chr9

136330569

+MX1chr21

42821064

+
intron-intronENST00000542192ENST00000288383CACFD1chr9

136330569

+MX1chr21

42821064

+
intron-intronENST00000542192ENST00000398598CACFD1chr9

136330569

+MX1chr21

42821064

+
intron-intronENST00000542192ENST00000398600CACFD1chr9

136330569

+MX1chr21

42821064

+
intron-intronENST00000542192ENST00000455164CACFD1chr9

136330569

+MX1chr21

42821064

+
intron-intronENST00000542192ENST00000490220CACFD1chr9

136330569

+MX1chr21

42821064

+

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 CACFD1-MX1


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)
CACFD1chr9136330569+MX1chr2142821063+0.0014237410.9985763
CACFD1chr9136330569+MX1chr2142821063+0.0014237410.9985763


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.
genomic feature of top 1%

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Fusion Protein Features for CACFD1-MX1


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/:136330569/:42821064)
- 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
.MX1

P20591

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: Interferon-induced dynamin-like GTPase with antiviral activity against a wide range of RNA viruses and some DNA viruses. Its target viruses include negative-stranded RNA viruses and HBV through binding and inactivation of their ribonucleocapsid. May also antagonize reoviridae and asfarviridae replication. Inhibits thogoto virus (THOV) replication by preventing the nuclear import of viral nucleocapsids. Inhibits La Crosse virus (LACV) replication by sequestering viral nucleoprotein in perinuclear complexes, preventing genome amplification, budding, and egress. Inhibits influenza A virus (IAV) replication by decreasing or delaying NP synthesis and by blocking endocytic traffic of incoming virus particles. Enhances ER stress-mediated cell death after influenza virus infection. May regulate the calcium channel activity of TRPCs. {ECO:0000269|PubMed:11880649, ECO:0000269|PubMed:14687945, ECO:0000269|PubMed:14752052, ECO:0000269|PubMed:15047845, ECO:0000269|PubMed:15355513, ECO:0000269|PubMed:15757897, ECO:0000269|PubMed:16202617, ECO:0000269|PubMed:16413306, ECO:0000269|PubMed:17374778, ECO:0000269|PubMed:18668195, ECO:0000269|PubMed:19109387, ECO:0000269|PubMed:21900240, ECO:0000269|PubMed:21992152}.

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 CACFD1-MX1


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 CACFD1-MX1


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 CACFD1-MX1


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 CACFD1-MX1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0015625Fanconi Anemia1CTD_human
TgeneC0021400Influenza1CTD_human
TgeneC0023467Leukemia, Myelocytic, Acute1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0026998Acute Myeloid Leukemia, M11CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0151744Myocardial Ischemia1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneC1879321Acute Myeloid Leukemia (AML-M2)1CTD_human