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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:MIEF1-TAB1 (FusionGDB2 ID:53614)

Fusion Gene Summary for MIEF1-TAB1

check button Fusion gene summary
Fusion gene informationFusion gene name: MIEF1-TAB1
Fusion gene ID: 53614
HgeneTgene
Gene symbol

MIEF1

TAB1

Gene ID

54471

10454

Gene namemitochondrial elongation factor 1TGF-beta activated kinase 1 (MAP3K7) binding protein 1
SynonymsAltMIEF1|HSU79252|MID51|MIEF1-MP|SMCR7L|dJ1104E15.33'-Tab1|MAP3K7IP1
Cytomap

22q13.1

22q13.1

Type of geneprotein-codingprotein-coding
Descriptionmitochondrial dynamics protein MID51MIEF1 microproteinSMCR7-like proteinSmith-Magenis syndrome chromosome region, candidate 7-likealternative MIEF1 proteinmitochondrial dynamic protein MID51mitochondrial dynamic protein of 51 kDamitochondrial dynamTGF-beta-activated kinase 1 and MAP3K7-binding protein 1TAK1-binding protein 1mitogen-activated protein kinase kinase kinase 7-interacting protein 1transforming growth factor beta-activated kinase-binding protein 1
Modification date2020032720200313
UniProtAcc

Q9NQG6

.
Ensembl transtripts involved in fusion geneENST00000478342, ENST00000325301, 
ENST00000402881, ENST00000404569, 
ENST00000488859, ENST00000216160, 
ENST00000331454, 
Fusion gene scores* DoF score4 X 4 X 3=488 X 7 X 5=280
# samples 510
** MAII scorelog2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(10/280*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MIEF1 [Title/Abstract] AND TAB1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMIEF1(39900539)-TAB1(39832495), # samples:2
Anticipated loss of major functional domain due to fusion event.MIEF1-TAB1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
MIEF1-TAB1 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
HgeneMIEF1

GO:0090141

positive regulation of mitochondrial fission

23283981|23530241

HgeneMIEF1

GO:0090314

positive regulation of protein targeting to membrane

23283981

HgeneMIEF1

GO:0090314

positive regulation of protein targeting to membrane

23921378


check buttonFusion gene breakpoints across MIEF1 (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 TAB1 (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
ChimerDB4OVTCGA-31-1946-01AMIEF1chr22

39900539

+TAB1chr22

39832495

+
ChimerDB4STADTCGA-VQ-A92D-01AMIEF1chr22

39900539

+TAB1chr22

39822708

+


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Fusion Gene ORF analysis for MIEF1-TAB1

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-3UTRENST00000478342ENST00000488859MIEF1chr22

39900539

+TAB1chr22

39832495

+
5CDS-intronENST00000478342ENST00000216160MIEF1chr22

39900539

+TAB1chr22

39832495

+
5CDS-intronENST00000478342ENST00000331454MIEF1chr22

39900539

+TAB1chr22

39832495

+
5CDS-intronENST00000478342ENST00000488859MIEF1chr22

39900539

+TAB1chr22

39822708

+
5UTR-3CDSENST00000325301ENST00000216160MIEF1chr22

39900539

+TAB1chr22

39822708

+
5UTR-3CDSENST00000325301ENST00000331454MIEF1chr22

39900539

+TAB1chr22

39822708

+
5UTR-3CDSENST00000402881ENST00000216160MIEF1chr22

39900539

+TAB1chr22

39822708

+
5UTR-3CDSENST00000402881ENST00000331454MIEF1chr22

39900539

+TAB1chr22

39822708

+
5UTR-3CDSENST00000404569ENST00000216160MIEF1chr22

39900539

+TAB1chr22

39822708

+
5UTR-3CDSENST00000404569ENST00000331454MIEF1chr22

39900539

+TAB1chr22

39822708

+
5UTR-3UTRENST00000325301ENST00000488859MIEF1chr22

39900539

+TAB1chr22

39832495

+
5UTR-3UTRENST00000402881ENST00000488859MIEF1chr22

39900539

+TAB1chr22

39832495

+
5UTR-3UTRENST00000404569ENST00000488859MIEF1chr22

39900539

+TAB1chr22

39832495

+
5UTR-intronENST00000325301ENST00000216160MIEF1chr22

39900539

+TAB1chr22

39832495

+
5UTR-intronENST00000325301ENST00000331454MIEF1chr22

39900539

+TAB1chr22

39832495

+
5UTR-intronENST00000325301ENST00000488859MIEF1chr22

39900539

+TAB1chr22

39822708

+
5UTR-intronENST00000402881ENST00000216160MIEF1chr22

39900539

+TAB1chr22

39832495

+
5UTR-intronENST00000402881ENST00000331454MIEF1chr22

39900539

+TAB1chr22

39832495

+
5UTR-intronENST00000402881ENST00000488859MIEF1chr22

39900539

+TAB1chr22

39822708

+
5UTR-intronENST00000404569ENST00000216160MIEF1chr22

39900539

+TAB1chr22

39832495

+
5UTR-intronENST00000404569ENST00000331454MIEF1chr22

39900539

+TAB1chr22

39832495

+
5UTR-intronENST00000404569ENST00000488859MIEF1chr22

39900539

+TAB1chr22

39822708

+
Frame-shiftENST00000478342ENST00000216160MIEF1chr22

39900539

+TAB1chr22

39822708

+
Frame-shiftENST00000478342ENST00000331454MIEF1chr22

39900539

+TAB1chr22

39822708

+

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 MIEF1-TAB1


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.
genomic feature of top 1%

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Fusion Protein Features for MIEF1-TAB1


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/:39900539/:39832495)
- 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
MIEF1

Q9NQG6

.
FUNCTION: Mitochondrial outer membrane protein which regulates mitochondrial fission. Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface independently of the mitochondrial fission FIS1 and MFF proteins. Regulates DNM1L GTPase activity and DNM1L oligomerization. Binds ADP and can also bind GDP, although with lower affinity. Does not bind CDP, UDP, ATP, AMP or GTP. Inhibits DNM1L GTPase activity in the absence of bound ADP. Requires ADP to stimulate DNM1L GTPase activity and the assembly of DNM1L into long, oligomeric tubules with a spiral pattern, as opposed to the ring-like DNM1L oligomers observed in the absence of bound ADP. Does not require ADP for its function in recruiting DNM1L. {ECO:0000269|PubMed:21508961, ECO:0000269|PubMed:21701560, ECO:0000269|PubMed:23283981, ECO:0000269|PubMed:23530241, ECO:0000269|PubMed:23921378, ECO:0000269|PubMed:24515348, ECO:0000269|PubMed:29083303}.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 MIEF1-TAB1


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 MIEF1-TAB1


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 MIEF1-TAB1


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 MIEF1-TAB1


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