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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:TMED1-DNM2 (FusionGDB2 ID:91440)

Fusion Gene Summary for TMED1-DNM2

check button Fusion gene summary
Fusion gene informationFusion gene name: TMED1-DNM2
Fusion gene ID: 91440
HgeneTgene
Gene symbol

TMED1

DNM2

Gene ID

11018

1785

Gene nametransmembrane p24 trafficking protein 1dynamin 2
SynonymsIL1RL1LG|Il1rl1l|Tp24|p24g1CMT2M|CMTDI1|CMTDIB|DI-CMTB|DYN2|DYNII|LCCS5
Cytomap

19p13.2

19p13.2

Type of geneprotein-codingprotein-coding
Descriptiontransmembrane emp24 domain-containing protein 1IL1RL1-binding proteininterleukin 1 receptor-like 1 ligandp24 family protein gamma-1putative T1/ST2 receptor-binding proteintransmembrane emp24 protein transport domain containing 1dynamin-2dynamin II
Modification date2020031320200329
UniProtAcc.

P50570

Ensembl transtripts involved in fusion geneENST00000214869, ENST00000588289, 
ENST00000591695, 		ENST00000591819, 
ENST00000314646, ENST00000355667, 
ENST00000359692, ENST00000389253, 
ENST00000408974, ENST00000585892, 
Fusion gene scores* DoF score1 X 1 X 1=119 X 24 X 14=6384
# samples 134
** MAII scorelog2(1/1*10)=3.32192809488736log2(34/6384*10)=-4.23085400008464
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TMED1 [Title/Abstract] AND DNM2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTMED1(10945610)-DNM2(10912964), # 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
TgeneDNM2

GO:1903526

negative regulation of membrane tubulation

18388313


check buttonFusion gene breakpoints across TMED1 (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 DNM2 (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
ChimerDB4STADTCGA-BR-8364-01ATMED1chr19

10945610

-DNM2chr19

10912964

+


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Fusion Gene ORF analysis for TMED1-DNM2

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-intronENST00000214869ENST00000591819TMED1chr19

10945610

-DNM2chr19

10912964

+
5CDS-intronENST00000588289ENST00000591819TMED1chr19

10945610

-DNM2chr19

10912964

+
In-frameENST00000214869ENST00000314646TMED1chr19

10945610

-DNM2chr19

10912964

+
In-frameENST00000214869ENST00000355667TMED1chr19

10945610

-DNM2chr19

10912964

+
In-frameENST00000214869ENST00000359692TMED1chr19

10945610

-DNM2chr19

10912964

+
In-frameENST00000214869ENST00000389253TMED1chr19

10945610

-DNM2chr19

10912964

+
In-frameENST00000214869ENST00000408974TMED1chr19

10945610

-DNM2chr19

10912964

+
In-frameENST00000214869ENST00000585892TMED1chr19

10945610

-DNM2chr19

10912964

+
In-frameENST00000588289ENST00000314646TMED1chr19

10945610

-DNM2chr19

10912964

+
In-frameENST00000588289ENST00000355667TMED1chr19

10945610

-DNM2chr19

10912964

+
In-frameENST00000588289ENST00000359692TMED1chr19

10945610

-DNM2chr19

10912964

+
In-frameENST00000588289ENST00000389253TMED1chr19

10945610

-DNM2chr19

10912964

+
In-frameENST00000588289ENST00000408974TMED1chr19

10945610

-DNM2chr19

10912964

+
In-frameENST00000588289ENST00000585892TMED1chr19

10945610

-DNM2chr19

10912964

+
intron-3CDSENST00000591695ENST00000314646TMED1chr19

10945610

-DNM2chr19

10912964

+
intron-3CDSENST00000591695ENST00000355667TMED1chr19

10945610

-DNM2chr19

10912964

+
intron-3CDSENST00000591695ENST00000359692TMED1chr19

10945610

-DNM2chr19

10912964

+
intron-3CDSENST00000591695ENST00000389253TMED1chr19

10945610

-DNM2chr19

10912964

+
intron-3CDSENST00000591695ENST00000408974TMED1chr19

10945610

-DNM2chr19

10912964

+
intron-3CDSENST00000591695ENST00000585892TMED1chr19

10945610

-DNM2chr19

10912964

+
intron-intronENST00000591695ENST00000591819TMED1chr19

10945610

-DNM2chr19

10912964

+

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 TMED1-DNM2


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)
TMED1chr1910945609-DNM2chr1910912963+9.28E-080.9999999
TMED1chr1910945609-DNM2chr1910912963+9.28E-080.9999999

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 TMED1-DNM2


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/chr19:10945610/chr19:10912964)
- 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
.DNM2

P50570

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: Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Plays a role in the regulation of neuron morphology, axon growth and formation of neuronal growth cones (By similarity). Plays an important role in vesicular trafficking processes, in particular endocytosis. Involved in cytokinesis (PubMed:12498685). Regulates maturation of apoptotic cell corpse-containing phagosomes by recruiting PIK3C3 to the phagosome membrane (By similarity). {ECO:0000250|UniProtKB:P39052, ECO:0000250|UniProtKB:P39054, ECO:0000269|PubMed:12498685}.

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
HgeneTMED1chr19:10945610chr19:10912964ENST00000214869-3443_125155228.0DomainGOLD
TgeneDNM2chr19:10945610chr19:10912964ENST000003556671021747_866474871.0Compositional biasNote=Pro-rich
TgeneDNM2chr19:10945610chr19:10912964ENST000003596921020747_866474867.0Compositional biasNote=Pro-rich
TgeneDNM2chr19:10945610chr19:10912964ENST000003892531021747_866474871.0Compositional biasNote=Pro-rich
TgeneDNM2chr19:10945610chr19:10912964ENST000004089741020747_866474867.0Compositional biasNote=Pro-rich
TgeneDNM2chr19:10945610chr19:10912964ENST000005858921021747_866474870.0Compositional biasNote=Pro-rich
TgeneDNM2chr19:10945610chr19:10912964ENST000003556671021519_625474871.0DomainPH
TgeneDNM2chr19:10945610chr19:10912964ENST000003556671021653_744474871.0DomainGED
TgeneDNM2chr19:10945610chr19:10912964ENST000003596921020519_625474867.0DomainPH
TgeneDNM2chr19:10945610chr19:10912964ENST000003596921020653_744474867.0DomainGED
TgeneDNM2chr19:10945610chr19:10912964ENST000003892531021519_625474871.0DomainPH
TgeneDNM2chr19:10945610chr19:10912964ENST000003892531021653_744474871.0DomainGED
TgeneDNM2chr19:10945610chr19:10912964ENST000004089741020519_625474867.0DomainPH
TgeneDNM2chr19:10945610chr19:10912964ENST000004089741020653_744474867.0DomainGED
TgeneDNM2chr19:10945610chr19:10912964ENST000005858921021519_625474870.0DomainPH
TgeneDNM2chr19:10945610chr19:10912964ENST000005858921021653_744474870.0DomainGED

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTMED1chr19:10945610chr19:10912964ENST00000214869-34145_170155228.0Coiled coilOntology_term=ECO:0000255
HgeneTMED1chr19:10945610chr19:10912964ENST00000214869-34218_219155228.0MotifCOPII vesicle coat-binding
HgeneTMED1chr19:10945610chr19:10912964ENST00000214869-34218_227155228.0MotifCOPI vesicle coat-binding
HgeneTMED1chr19:10945610chr19:10912964ENST00000214869-34216_227155228.0Topological domainCytoplasmic
HgeneTMED1chr19:10945610chr19:10912964ENST00000214869-3424_194155228.0Topological domainExtracellular
HgeneTMED1chr19:10945610chr19:10912964ENST00000214869-34195_215155228.0TransmembraneHelical
TgeneDNM2chr19:10945610chr19:10912964ENST00000355667102128_294474871.0DomainDynamin-type G
TgeneDNM2chr19:10945610chr19:10912964ENST00000359692102028_294474867.0DomainDynamin-type G
TgeneDNM2chr19:10945610chr19:10912964ENST00000389253102128_294474871.0DomainDynamin-type G
TgeneDNM2chr19:10945610chr19:10912964ENST00000408974102028_294474867.0DomainDynamin-type G
TgeneDNM2chr19:10945610chr19:10912964ENST00000585892102128_294474870.0DomainDynamin-type G
TgeneDNM2chr19:10945610chr19:10912964ENST000003556671021205_211474871.0Nucleotide bindingGTP
TgeneDNM2chr19:10945610chr19:10912964ENST000003556671021236_239474871.0Nucleotide bindingGTP
TgeneDNM2chr19:10945610chr19:10912964ENST00000355667102138_46474871.0Nucleotide bindingGTP
TgeneDNM2chr19:10945610chr19:10912964ENST000003596921020205_211474867.0Nucleotide bindingGTP
TgeneDNM2chr19:10945610chr19:10912964ENST000003596921020236_239474867.0Nucleotide bindingGTP
TgeneDNM2chr19:10945610chr19:10912964ENST00000359692102038_46474867.0Nucleotide bindingGTP
TgeneDNM2chr19:10945610chr19:10912964ENST000003892531021205_211474871.0Nucleotide bindingGTP
TgeneDNM2chr19:10945610chr19:10912964ENST000003892531021236_239474871.0Nucleotide bindingGTP
TgeneDNM2chr19:10945610chr19:10912964ENST00000389253102138_46474871.0Nucleotide bindingGTP
TgeneDNM2chr19:10945610chr19:10912964ENST000004089741020205_211474867.0Nucleotide bindingGTP
TgeneDNM2chr19:10945610chr19:10912964ENST000004089741020236_239474867.0Nucleotide bindingGTP
TgeneDNM2chr19:10945610chr19:10912964ENST00000408974102038_46474867.0Nucleotide bindingGTP
TgeneDNM2chr19:10945610chr19:10912964ENST000005858921021205_211474870.0Nucleotide bindingGTP
TgeneDNM2chr19:10945610chr19:10912964ENST000005858921021236_239474870.0Nucleotide bindingGTP
TgeneDNM2chr19:10945610chr19:10912964ENST00000585892102138_46474870.0Nucleotide bindingGTP
TgeneDNM2chr19:10945610chr19:10912964ENST000003556671021136_139474871.0RegionG3 motif
TgeneDNM2chr19:10945610chr19:10912964ENST000003556671021205_208474871.0RegionG4 motif
TgeneDNM2chr19:10945610chr19:10912964ENST000003556671021235_238474871.0RegionG5 motif
TgeneDNM2chr19:10945610chr19:10912964ENST00000355667102138_45474871.0RegionG1 motif
TgeneDNM2chr19:10945610chr19:10912964ENST00000355667102164_66474871.0RegionG2 motif
TgeneDNM2chr19:10945610chr19:10912964ENST000003596921020136_139474867.0RegionG3 motif
TgeneDNM2chr19:10945610chr19:10912964ENST000003596921020205_208474867.0RegionG4 motif
TgeneDNM2chr19:10945610chr19:10912964ENST000003596921020235_238474867.0RegionG5 motif
TgeneDNM2chr19:10945610chr19:10912964ENST00000359692102038_45474867.0RegionG1 motif
TgeneDNM2chr19:10945610chr19:10912964ENST00000359692102064_66474867.0RegionG2 motif
TgeneDNM2chr19:10945610chr19:10912964ENST000003892531021136_139474871.0RegionG3 motif
TgeneDNM2chr19:10945610chr19:10912964ENST000003892531021205_208474871.0RegionG4 motif
TgeneDNM2chr19:10945610chr19:10912964ENST000003892531021235_238474871.0RegionG5 motif
TgeneDNM2chr19:10945610chr19:10912964ENST00000389253102138_45474871.0RegionG1 motif
TgeneDNM2chr19:10945610chr19:10912964ENST00000389253102164_66474871.0RegionG2 motif
TgeneDNM2chr19:10945610chr19:10912964ENST000004089741020136_139474867.0RegionG3 motif
TgeneDNM2chr19:10945610chr19:10912964ENST000004089741020205_208474867.0RegionG4 motif
TgeneDNM2chr19:10945610chr19:10912964ENST000004089741020235_238474867.0RegionG5 motif
TgeneDNM2chr19:10945610chr19:10912964ENST00000408974102038_45474867.0RegionG1 motif
TgeneDNM2chr19:10945610chr19:10912964ENST00000408974102064_66474867.0RegionG2 motif
TgeneDNM2chr19:10945610chr19:10912964ENST000005858921021136_139474870.0RegionG3 motif
TgeneDNM2chr19:10945610chr19:10912964ENST000005858921021205_208474870.0RegionG4 motif
TgeneDNM2chr19:10945610chr19:10912964ENST000005858921021235_238474870.0RegionG5 motif
TgeneDNM2chr19:10945610chr19:10912964ENST00000585892102138_45474870.0RegionG1 motif
TgeneDNM2chr19:10945610chr19:10912964ENST00000585892102164_66474870.0RegionG2 motif


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Fusion Gene Sequence for TMED1-DNM2


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 TMED1-DNM2


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 TMED1-DNM2


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 TMED1-DNM2


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