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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:DNM1L-TMTC1 (FusionGDB2 ID:HG10059TG83857)

Fusion Gene Summary for DNM1L-TMTC1

check button Fusion gene summary
Fusion gene informationFusion gene name: DNM1L-TMTC1
Fusion gene ID: hg10059tg83857
HgeneTgene
Gene symbol

DNM1L

TMTC1

Gene ID

10059

83857

Gene namedynamin 1 liketransmembrane O-mannosyltransferase targeting cadherins 1
SynonymsDLP1|DRP1|DVLP|DYMPLE|EMPF|EMPF1|HDYNIV|OPA5ARG99|OLF|TMTC1A
Cytomap('DNM1L')('TMTC1')

12p11.21

12p11.22

Type of geneprotein-codingprotein-coding
Descriptiondynamin-1-like proteinDnm1p/Vps1p-like proteindynamin family member proline-rich carboxyl-terminal domain lessdynamin-like protein 4dynamin-like protein IVdynamin-related protein 1protein O-mannosyl-transferase TMTC1transmembrane and tetratricopeptide repeat containing 1transmembrane and tetratricopeptide repeat containing 1A
Modification date2020032720200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000548671, ENST00000266481, 
ENST00000358214, ENST00000381000, 
ENST00000452533, ENST00000547312, 
ENST00000549701, ENST00000553257, 
ENST00000414834, 
Fusion gene scores* DoF score8 X 4 X 9=2889 X 9 X 3=243
# samples 109
** MAII scorelog2(10/288*10)=-1.52606881166759
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/243*10)=-1.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DNM1L [Title/Abstract] AND TMTC1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDNM1L(32832399)-TMTC1(29709933), # samples:1
Anticipated loss of major functional domain due to fusion event.DNM1L-TMTC1 seems lost the major protein functional domain in Hgene 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
HgeneDNM1L

GO:0000266

mitochondrial fission

23530241

HgeneDNM1L

GO:0003374

dynamin family protein polymerization involved in mitochondrial fission

11514614|23530241

HgeneDNM1L

GO:0016559

peroxisome fission

12618434

HgeneDNM1L

GO:0050714

positive regulation of protein secretion

9570752

HgeneDNM1L

GO:0061025

membrane fusion

20850011

HgeneDNM1L

GO:0065003

protein-containing complex assembly

20850011

HgeneDNM1L

GO:0090149

mitochondrial membrane fission

11514614



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
ChimerDB4BRCATCGA-AO-A1KSDNM1Lchr12

32832399

+TMTC1chr12

29709933

-


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Fusion Gene ORF analysis for DNM1L-TMTC1

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-3CDSENST00000548671ENST00000256062DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
3UTR-3CDSENST00000548671ENST00000551659DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
3UTR-3CDSENST00000548671ENST00000552618DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
3UTR-5UTRENST00000548671ENST00000319685DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
3UTR-5UTRENST00000548671ENST00000381224DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
3UTR-5UTRENST00000548671ENST00000539277DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
5CDS-5UTRENST00000266481ENST00000319685DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
5CDS-5UTRENST00000266481ENST00000381224DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
5CDS-5UTRENST00000266481ENST00000539277DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
5CDS-5UTRENST00000358214ENST00000319685DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
5CDS-5UTRENST00000358214ENST00000381224DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
5CDS-5UTRENST00000358214ENST00000539277DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
5CDS-5UTRENST00000381000ENST00000319685DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
5CDS-5UTRENST00000381000ENST00000381224DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
5CDS-5UTRENST00000381000ENST00000539277DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
5CDS-5UTRENST00000452533ENST00000319685DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
5CDS-5UTRENST00000452533ENST00000381224DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
5CDS-5UTRENST00000452533ENST00000539277DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
5CDS-5UTRENST00000547312ENST00000319685DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
5CDS-5UTRENST00000547312ENST00000381224DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
5CDS-5UTRENST00000547312ENST00000539277DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
5CDS-5UTRENST00000549701ENST00000319685DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
5CDS-5UTRENST00000549701ENST00000381224DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
5CDS-5UTRENST00000549701ENST00000539277DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
5CDS-5UTRENST00000553257ENST00000319685DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
5CDS-5UTRENST00000553257ENST00000381224DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
5CDS-5UTRENST00000553257ENST00000539277DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
5UTR-3CDSENST00000414834ENST00000256062DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
5UTR-3CDSENST00000414834ENST00000551659DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
5UTR-3CDSENST00000414834ENST00000552618DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
5UTR-5UTRENST00000414834ENST00000319685DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
5UTR-5UTRENST00000414834ENST00000381224DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
5UTR-5UTRENST00000414834ENST00000539277DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
Frame-shiftENST00000266481ENST00000256062DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
Frame-shiftENST00000266481ENST00000551659DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
Frame-shiftENST00000266481ENST00000552618DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
Frame-shiftENST00000358214ENST00000256062DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
Frame-shiftENST00000358214ENST00000551659DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
Frame-shiftENST00000358214ENST00000552618DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
Frame-shiftENST00000381000ENST00000256062DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
Frame-shiftENST00000381000ENST00000551659DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
Frame-shiftENST00000381000ENST00000552618DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
Frame-shiftENST00000452533ENST00000256062DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
Frame-shiftENST00000452533ENST00000551659DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
Frame-shiftENST00000452533ENST00000552618DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
Frame-shiftENST00000547312ENST00000256062DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
Frame-shiftENST00000547312ENST00000551659DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
Frame-shiftENST00000547312ENST00000552618DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
Frame-shiftENST00000549701ENST00000256062DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
Frame-shiftENST00000549701ENST00000551659DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
Frame-shiftENST00000549701ENST00000552618DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
Frame-shiftENST00000553257ENST00000256062DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
Frame-shiftENST00000553257ENST00000551659DNM1Lchr12

32832399

+TMTC1chr12

29709933

-
Frame-shiftENST00000553257ENST00000552618DNM1Lchr12

32832399

+TMTC1chr12

29709933

-

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 DNM1L-TMTC1


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)


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Fusion Protein Features for DNM1L-TMTC1


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/:32832399/:29709933)
- 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

- 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 DNM1L-TMTC1


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 DNM1L-TMTC1


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 DNM1L-TMTC1


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 DNM1L-TMTC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDNM1LC3280660ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION9CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneDNM1LC1853139OPTIC ATROPHY 5 (disorder)2CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneDNM1LC0001125Acidosis, Lactic1CTD_human
HgeneDNM1LC0025958Microcephaly1CTD_human
HgeneDNM1LC0029124Optic Atrophy1CTD_human
HgeneDNM1LC0030567Parkinson Disease1CTD_human
HgeneDNM1LC0151744Myocardial Ischemia1CTD_human
HgeneDNM1LC0162666Mitochondrial Encephalomyopathies1CTD_human
HgeneDNM1LC0338508Optic Atrophy 11ORPHANET
HgeneDNM1LC1096063Drug Resistant Epilepsy1GENOMICS_ENGLAND
HgeneDNM1LC1956147Microlissencephaly1CTD_human
HgeneDNM1LC3853041Severe Congenital Microcephaly1CTD_human