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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:ZNF180-TOMM40 (FusionGDB2 ID:101573)

Fusion Gene Summary for ZNF180-TOMM40

check button Fusion gene summary
Fusion gene informationFusion gene name: ZNF180-TOMM40
Fusion gene ID: 101573
HgeneTgene
Gene symbol

ZNF180

TOMM40

Gene ID

7733

10452

Gene namezinc finger protein 180translocase of outer mitochondrial membrane 40
SynonymsHHZ168C19orf1|D19S1177E|PER-EC1|PEREC1|TOM40
Cytomap

19q13.31

19q13.32

Type of geneprotein-codingprotein-coding
Descriptionzinc finger protein 180mitochondrial import receptor subunit TOM40 homologmitochondrial outer membrane proteinp38.5protein Haymakertranslocase of outer membrane 40 kDa subunit homologtranslocase of outer mitochondrial membrane 40 homolog
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000221327, ENST00000391956, 
ENST00000586637, ENST00000587047, 
ENST00000592529, ENST00000585514, 
ENST00000426677, ENST00000592434, 
ENST00000252487, ENST00000405636, 
Fusion gene scores* DoF score4 X 3 X 4=484 X 3 X 3=36
# samples 44
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ZNF180 [Title/Abstract] AND TOMM40 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointZNF180(45001336)-TOMM40(45406287), # samples:2
Anticipated loss of major functional domain due to fusion event.ZNF180-TOMM40 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
ZNF180-TOMM40 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ZNF180-TOMM40 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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

check buttonFusion gene breakpoints across ZNF180 (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 TOMM40 (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
ChimerDB4BRCATCGA-A1-A0SQ-01AZNF180chr19

45001336

-TOMM40chr19

45406287

+


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Fusion Gene ORF analysis for ZNF180-TOMM40

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-3UTRENST00000221327ENST00000426677ZNF180chr19

45001336

-TOMM40chr19

45406287

+
5CDS-3UTRENST00000221327ENST00000592434ZNF180chr19

45001336

-TOMM40chr19

45406287

+
5CDS-3UTRENST00000391956ENST00000426677ZNF180chr19

45001336

-TOMM40chr19

45406287

+
5CDS-3UTRENST00000391956ENST00000592434ZNF180chr19

45001336

-TOMM40chr19

45406287

+
5CDS-3UTRENST00000586637ENST00000426677ZNF180chr19

45001336

-TOMM40chr19

45406287

+
5CDS-3UTRENST00000586637ENST00000592434ZNF180chr19

45001336

-TOMM40chr19

45406287

+
5CDS-3UTRENST00000587047ENST00000426677ZNF180chr19

45001336

-TOMM40chr19

45406287

+
5CDS-3UTRENST00000587047ENST00000592434ZNF180chr19

45001336

-TOMM40chr19

45406287

+
5CDS-3UTRENST00000592529ENST00000426677ZNF180chr19

45001336

-TOMM40chr19

45406287

+
5CDS-3UTRENST00000592529ENST00000592434ZNF180chr19

45001336

-TOMM40chr19

45406287

+
5UTR-3CDSENST00000585514ENST00000252487ZNF180chr19

45001336

-TOMM40chr19

45406287

+
5UTR-3CDSENST00000585514ENST00000405636ZNF180chr19

45001336

-TOMM40chr19

45406287

+
5UTR-3UTRENST00000585514ENST00000426677ZNF180chr19

45001336

-TOMM40chr19

45406287

+
5UTR-3UTRENST00000585514ENST00000592434ZNF180chr19

45001336

-TOMM40chr19

45406287

+
Frame-shiftENST00000221327ENST00000252487ZNF180chr19

45001336

-TOMM40chr19

45406287

+
Frame-shiftENST00000221327ENST00000405636ZNF180chr19

45001336

-TOMM40chr19

45406287

+
Frame-shiftENST00000391956ENST00000252487ZNF180chr19

45001336

-TOMM40chr19

45406287

+
Frame-shiftENST00000391956ENST00000405636ZNF180chr19

45001336

-TOMM40chr19

45406287

+
Frame-shiftENST00000586637ENST00000252487ZNF180chr19

45001336

-TOMM40chr19

45406287

+
Frame-shiftENST00000586637ENST00000405636ZNF180chr19

45001336

-TOMM40chr19

45406287

+
Frame-shiftENST00000587047ENST00000252487ZNF180chr19

45001336

-TOMM40chr19

45406287

+
Frame-shiftENST00000587047ENST00000405636ZNF180chr19

45001336

-TOMM40chr19

45406287

+
Frame-shiftENST00000592529ENST00000252487ZNF180chr19

45001336

-TOMM40chr19

45406287

+
In-frameENST00000592529ENST00000405636ZNF180chr19

45001336

-TOMM40chr19

45406287

+

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)
ENST00000592529ZNF180chr1945001336-ENST00000405636TOMM40chr1945406287+992343920255221

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
ENST00000592529ENST00000405636ZNF180chr1945001336-TOMM40chr1945406287+0.516290.48371002

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Fusion Genomic Features for ZNF180-TOMM40


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)
ZNF180chr1945001335-TOMM40chr1945406286+1.16E-060.9999988
ZNF180chr1945001335-TOMM40chr1945406286+1.16E-060.9999988

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.
genomic feature of top 1%

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Fusion Protein Features for ZNF180-TOMM40


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/chr19:45001336/chr19:45406287)
- 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
TgeneTOMM40chr19:45001336chr19:45406287ENST000005924340910_390330.0Compositional biasNote=Pro-rich

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneZNF180chr19:45001336chr19:45406287ENST00000221327-2572_14544693.0DomainKRAB
HgeneZNF180chr19:45001336chr19:45406287ENST00000221327-25353_37544693.0Zinc fingerC2H2-type 1
HgeneZNF180chr19:45001336chr19:45406287ENST00000221327-25381_40344693.0Zinc fingerC2H2-type 2
HgeneZNF180chr19:45001336chr19:45406287ENST00000221327-25409_43144693.0Zinc fingerC2H2-type 3
HgeneZNF180chr19:45001336chr19:45406287ENST00000221327-25437_45944693.0Zinc fingerC2H2-type 4
HgeneZNF180chr19:45001336chr19:45406287ENST00000221327-25465_48744693.0Zinc fingerC2H2-type 5
HgeneZNF180chr19:45001336chr19:45406287ENST00000221327-25493_51544693.0Zinc fingerC2H2-type 6
HgeneZNF180chr19:45001336chr19:45406287ENST00000221327-25521_54344693.0Zinc fingerC2H2-type 7
HgeneZNF180chr19:45001336chr19:45406287ENST00000221327-25549_57144693.0Zinc fingerC2H2-type 8
HgeneZNF180chr19:45001336chr19:45406287ENST00000221327-25577_59944693.0Zinc fingerC2H2-type 9
HgeneZNF180chr19:45001336chr19:45406287ENST00000221327-25605_62744693.0Zinc fingerC2H2-type 10
HgeneZNF180chr19:45001336chr19:45406287ENST00000221327-25633_65544693.0Zinc fingerC2H2-type 11
HgeneZNF180chr19:45001336chr19:45406287ENST00000221327-25661_68344693.0Zinc fingerC2H2-type 12
TgeneTOMM40chr19:45001336chr19:45406287ENST0000025248781010_39315362.0Compositional biasNote=Pro-rich
TgeneTOMM40chr19:45001336chr19:45406287ENST0000040563681010_39315362.0Compositional biasNote=Pro-rich
TgeneTOMM40chr19:45001336chr19:45406287ENST000004266777910_39315362.0Compositional biasNote=Pro-rich


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Fusion Gene Sequence for ZNF180-TOMM40


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.
>101573_101573_1_ZNF180-TOMM40_ZNF180_chr19_45001336_ENST00000592529_TOMM40_chr19_45406287_ENST00000405636_length(transcript)=992nt_BP=343nt
CACAAGAGCAGCCATTGTCCCGCGCGCGGACGCTTGCTGTCGCCGAGCAGCTCGGCCCTTCAGACTTAACCCCCAGCGGCCTTGCGGATG
CTGACTAGGAGAGGGGACCGAACTAGCTTAACCCGAGTCGGCCGTGTTGCAGAATCGGGGCAGGGGGTTGCCTAACCCGAGTTCGTCCTG
CCGCAGAGCCGTGCTAGGCACTGAGGCGGTGACAGGCCCAGCCTGGGCTGCGGGCCAGCGGACGCCCAGTGCAGCTCAGGACCTCAGCAC
CCTGCTGTGCCTGGAGGAGAGCATGGAAGAGCAGGATGAGAAGCCCCCAGAGCCCCCGAAGGCCTGTGCACAGGCTCTGTGGATAGCAAC
TGGATCGTGGGTGCCACGCTGGAGAAGAAGCTCCCACCCCTGCCCCTGACACTGGCCCTTGGGGCCTTCCTGAATCACCGCAAGAACAAG
TTTCAGTGTGGCTTTGGCCTCACCATCGGCTGAGCCCTCCTGGCCCCCGCCTTCCACGCCCTTCCGATTCCACCTCCACCTCCACCTCCC
CCTGCCACAGAGGGGAGACCTGAGCCCCCCTCCCTTCCCTCCCCCCTTGGGGGTCGGGGGGGACATTGGAAAGGAGGGACCCCGCCACCC
CAGCAGCTGAGGAGGGGATTCTGGAACTGAATGGCGCTTCGGGATTCTGAGTAGCAGGGGCAGCATGCCCAGTGGGCCTGGGGTCCCGGG
AGGGATTCCGGAATTGAGGGGCACGCAGGATTCTGAGCACCAGGGGCAGAGGCGGCCAGACAACCTCAGGGAGGAGTGTCCTGGCGTCCC
CATCCTCCAAAGGGCCTGGGCCCGCCCCGAGGGGGCAGCGAGAGGAGCTTCCCCATCCCCGGTCAGTCCACCCTGCCCCGTCCACTTTCC
CATCTCCTCGGTATAAATCATGTTTATAAGTTATGGAAGAACCGGGACATTTTACAGAAAAAAAACAAAAAACAACAAAAAATATACGTG

>101573_101573_1_ZNF180-TOMM40_ZNF180_chr19_45001336_ENST00000592529_TOMM40_chr19_45406287_ENST00000405636_length(amino acids)=221AA_BP=0
MIYTEEMGKWTGQGGLTGDGEAPLAAPSGRAQALWRMGTPGHSSLRLSGRLCPWCSESCVPLNSGIPPGTPGPLGMLPLLLRIPKRHSVP
ESPPQLLGWRGPSFPMSPPTPKGGGKGGGLRSPLCGRGRWRWRWNRKGVEGGGQEGSADGEAKATLKLVLAVIQEGPKGQCQGQGWELLL

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

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Fusion Gene PPI Analysis for ZNF180-TOMM40


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 ZNF180-TOMM40


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 ZNF180-TOMM40


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