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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:DTNB-DNMT3A

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: DTNB-DNMT3A
FusionPDB ID: 24371
FusionGDB2.0 ID: 24371
HgeneTgene
Gene symbol

DTNB

DNMT3A

Gene ID

1838

1788

Gene namedystrobrevin betaDNA methyltransferase 3 alpha
Synonyms-DNMT3A2|HESJAS|M.HsaIIIA|TBRS
Cytomap

2p23.3

2p23.3

Type of geneprotein-codingprotein-coding
Descriptiondystrobrevin betaDTN-Bbeta-dystrobrevinDNA (cytosine-5)-methyltransferase 3ADNA (cytosine-5-)-methyltransferase 3 alphaDNA MTase HsaIIIADNA cytosine methyltransferase 3A2
Modification date2020032720200322
UniProtAcc

Q96EV8

Q9Y6K1

Ensembl transtripts involved in fusion geneENST idsENST00000288642, ENST00000404103, 
ENST00000405222, ENST00000406818, 
ENST00000407038, ENST00000407186, 
ENST00000407661, ENST00000496972, 
ENST00000472690, ENST00000545439, 
ENST00000380746, ENST00000402667, 
ENST00000474887, ENST00000264709, 
ENST00000321117, ENST00000406659, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score10 X 10 X 7=7004 X 4 X 3=48
# samples 124
** MAII scorelog2(12/700*10)=-2.54432051622381
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: DTNB [Title/Abstract] AND DNMT3A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)DNMT3A(25564695)-DTNB(25602192), # samples:3
DTNB(25830105)-DNMT3A(25505580), # samples:1
Anticipated loss of major functional domain due to fusion event.DTNB-DNMT3A seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
DTNB-DNMT3A seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
DTNB-DNMT3A seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
DTNB-DNMT3A seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
DTNB-DNMT3A seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
DTNB-DNMT3A seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
DTNB-DNMT3A seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
DTNB-DNMT3A seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
DTNB-DNMT3A seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
DTNB-DNMT3A seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
TgeneDNMT3A

GO:0006306

DNA methylation

12138111|19786833|23042785


check buttonFusion gene breakpoints across DTNB (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 DNMT3A (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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-A7-A4SD-01ADTNBchr2

25830105

-DNMT3Achr2

25505580

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000496972DTNBchr225830105-ENST00000406659DNMT3Achr225505580-18445841040432202

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
ENST00000496972ENST00000406659DTNBchr225830105-DNMT3Achr225505580-0.7655760.234424

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>24371_24371_1_DTNB-DNMT3A_DTNB_chr2_25830105_ENST00000496972_DNMT3A_chr2_25505580_ENST00000406659_length(amino acids)=202AA_BP=0
MGQIKHMRRLHPASSLQAIALASRPLATTQTILPGTCWRAKSLTLRVCWWAQKRLPLVLRTHPLLQGLLGPPWGCSSHFPLLLRLQAGSQ
LHPLPLLGPRPSAPQQGSPPLAGAHSASPSPHWVIALRRLSPGPWMGTWRSPQGPLACHRFPHLNLSSIFPPHMVANIALTENTVNLPRP

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

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Fusion Protein Functional Features


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/chr2:25564695/chr2:25602192)
- 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
DTNB

Q96EV8

DNMT3A

Q9Y6K1

FUNCTION: Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Associates with the BLOC-2 complex to facilitate the transport of TYRP1 independent of AP-3 function. Plays a role in synaptic vesicle trafficking and in neurotransmitter release. Plays a role in the regulation of cell surface exposure of DRD2. May play a role in actin cytoskeleton reorganization and neurite outgrowth. May modulate MAPK8 phosphorylation. Appears to promote neuronal transmission and viability through regulating the expression of SNAP25 and SYN1, modulating PI3-kinase-Akt signaling and influencing glutamatergic release. Regulates the expression of SYN1 through binding to its promoter. Modulates prefrontal cortical activity via the dopamine/D2 pathway. {ECO:0000269|PubMed:15345706, ECO:0000269|PubMed:16837549, ECO:0000269|PubMed:17182842, ECO:0000269|PubMed:17989303, ECO:0000269|PubMed:19094965, ECO:0000269|PubMed:20180862, ECO:0000269|PubMed:20921223}.FUNCTION: Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. It modifies DNA in a non-processive manner and also methylates non-CpG sites. May preferentially methylate DNA linker between 2 nucleosomal cores and is inhibited by histone H1. Plays a role in paternal and maternal imprinting. Required for methylation of most imprinted loci in germ cells. Acts as a transcriptional corepressor for ZBTB18. Recruited to trimethylated 'Lys-36' of histone H3 (H3K36me3) sites. Can actively repress transcription through the recruitment of HDAC activity. {ECO:0000269|PubMed:16357870, ECO:0000269|PubMed:30478443}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneDNMT3Achr2:25830105chr2:25505580ENST00000264709223292_35059.0913.0DomainPWWP
TgeneDNMT3Achr2:25830105chr2:25505580ENST00000264709223482_61459.0913.0DomainADD
TgeneDNMT3Achr2:25830105chr2:25505580ENST00000264709223634_91259.0913.0DomainSAM-dependent MTase C5-type
TgeneDNMT3Achr2:25830105chr2:25505580ENST00000321117223292_35059.0913.0DomainPWWP
TgeneDNMT3Achr2:25830105chr2:25505580ENST00000321117223482_61459.0913.0DomainADD
TgeneDNMT3Achr2:25830105chr2:25505580ENST00000321117223634_91259.0913.0DomainSAM-dependent MTase C5-type
TgeneDNMT3Achr2:25830105chr2:25505580ENST00000380746019292_3500724.0DomainPWWP
TgeneDNMT3Achr2:25830105chr2:25505580ENST00000380746019482_6140724.0DomainADD
TgeneDNMT3Achr2:25830105chr2:25505580ENST00000380746019634_9120724.0DomainSAM-dependent MTase C5-type
TgeneDNMT3Achr2:25830105chr2:25505580ENST00000402667018292_3500690.0DomainPWWP
TgeneDNMT3Achr2:25830105chr2:25505580ENST00000402667018482_6140690.0DomainADD
TgeneDNMT3Achr2:25830105chr2:25505580ENST00000402667018634_9120690.0DomainSAM-dependent MTase C5-type
TgeneDNMT3Achr2:25830105chr2:25505580ENST0000040665924292_35059.0167.0DomainPWWP
TgeneDNMT3Achr2:25830105chr2:25505580ENST0000040665924482_61459.0167.0DomainADD
TgeneDNMT3Achr2:25830105chr2:25505580ENST0000040665924634_91259.0167.0DomainSAM-dependent MTase C5-type
TgeneDNMT3Achr2:25830105chr2:25505580ENST00000264709223641_64559.0913.0RegionS-adenosyl-L-methionine binding
TgeneDNMT3Achr2:25830105chr2:25505580ENST00000264709223686_68859.0913.0RegionS-adenosyl-L-methionine binding
TgeneDNMT3Achr2:25830105chr2:25505580ENST00000264709223891_89359.0913.0RegionS-adenosyl-L-methionine binding
TgeneDNMT3Achr2:25830105chr2:25505580ENST00000321117223641_64559.0913.0RegionS-adenosyl-L-methionine binding
TgeneDNMT3Achr2:25830105chr2:25505580ENST00000321117223686_68859.0913.0RegionS-adenosyl-L-methionine binding
TgeneDNMT3Achr2:25830105chr2:25505580ENST00000321117223891_89359.0913.0RegionS-adenosyl-L-methionine binding
TgeneDNMT3Achr2:25830105chr2:25505580ENST00000380746019641_6450724.0RegionS-adenosyl-L-methionine binding
TgeneDNMT3Achr2:25830105chr2:25505580ENST00000380746019686_6880724.0RegionS-adenosyl-L-methionine binding
TgeneDNMT3Achr2:25830105chr2:25505580ENST00000380746019891_8930724.0RegionS-adenosyl-L-methionine binding
TgeneDNMT3Achr2:25830105chr2:25505580ENST00000402667018641_6450690.0RegionS-adenosyl-L-methionine binding
TgeneDNMT3Achr2:25830105chr2:25505580ENST00000402667018686_6880690.0RegionS-adenosyl-L-methionine binding
TgeneDNMT3Achr2:25830105chr2:25505580ENST00000402667018891_8930690.0RegionS-adenosyl-L-methionine binding
TgeneDNMT3Achr2:25830105chr2:25505580ENST0000040665924641_64559.0167.0RegionS-adenosyl-L-methionine binding
TgeneDNMT3Achr2:25830105chr2:25505580ENST0000040665924686_68859.0167.0RegionS-adenosyl-L-methionine binding
TgeneDNMT3Achr2:25830105chr2:25505580ENST0000040665924891_89359.0167.0RegionS-adenosyl-L-methionine binding
TgeneDNMT3Achr2:25830105chr2:25505580ENST00000264709223493_52359.0913.0Zinc fingerGATA-type%3B atypical
TgeneDNMT3Achr2:25830105chr2:25505580ENST00000264709223534_59059.0913.0Zinc fingerPHD-type%3B atypical
TgeneDNMT3Achr2:25830105chr2:25505580ENST00000321117223493_52359.0913.0Zinc fingerGATA-type%3B atypical
TgeneDNMT3Achr2:25830105chr2:25505580ENST00000321117223534_59059.0913.0Zinc fingerPHD-type%3B atypical
TgeneDNMT3Achr2:25830105chr2:25505580ENST00000380746019493_5230724.0Zinc fingerGATA-type%3B atypical
TgeneDNMT3Achr2:25830105chr2:25505580ENST00000380746019534_5900724.0Zinc fingerPHD-type%3B atypical
TgeneDNMT3Achr2:25830105chr2:25505580ENST00000402667018493_5230690.0Zinc fingerGATA-type%3B atypical
TgeneDNMT3Achr2:25830105chr2:25505580ENST00000402667018534_5900690.0Zinc fingerPHD-type%3B atypical
TgeneDNMT3Achr2:25830105chr2:25505580ENST0000040665924493_52359.0167.0Zinc fingerGATA-type%3B atypical
TgeneDNMT3Achr2:25830105chr2:25505580ENST0000040665924534_59059.0167.0Zinc fingerPHD-type%3B atypical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDTNBchr2:25830105chr2:25505580ENST00000404103-520428_529149.33333333333334607.3333333333334Coiled coilOntology_term=ECO:0000255
HgeneDTNBchr2:25830105chr2:25505580ENST00000405222-518428_529149.33333333333334570.3333333333334Coiled coilOntology_term=ECO:0000255
HgeneDTNBchr2:25830105chr2:25505580ENST00000406818-521428_529149.33333333333334637.3333333333334Coiled coilOntology_term=ECO:0000255
HgeneDTNBchr2:25830105chr2:25505580ENST00000407038-519428_529149.33333333333334577.3333333333334Coiled coilOntology_term=ECO:0000255
HgeneDTNBchr2:25830105chr2:25505580ENST00000407661-520428_529149.33333333333334619.3333333333334Coiled coilOntology_term=ECO:0000255
HgeneDTNBchr2:25830105chr2:25505580ENST00000496972-418428_52992.33333333333333581.3333333333334Coiled coilOntology_term=ECO:0000255
HgeneDTNBchr2:25830105chr2:25505580ENST00000404103-520399_448149.33333333333334607.3333333333334RegionNote=Syntrophin-binding region
HgeneDTNBchr2:25830105chr2:25505580ENST00000405222-518399_448149.33333333333334570.3333333333334RegionNote=Syntrophin-binding region
HgeneDTNBchr2:25830105chr2:25505580ENST00000406818-521399_448149.33333333333334637.3333333333334RegionNote=Syntrophin-binding region
HgeneDTNBchr2:25830105chr2:25505580ENST00000407038-519399_448149.33333333333334577.3333333333334RegionNote=Syntrophin-binding region
HgeneDTNBchr2:25830105chr2:25505580ENST00000407661-520399_448149.33333333333334619.3333333333334RegionNote=Syntrophin-binding region
HgeneDTNBchr2:25830105chr2:25505580ENST00000496972-418399_44892.33333333333333581.3333333333334RegionNote=Syntrophin-binding region
HgeneDTNBchr2:25830105chr2:25505580ENST00000404103-520237_284149.33333333333334607.3333333333334Zinc fingerZZ-type
HgeneDTNBchr2:25830105chr2:25505580ENST00000405222-518237_284149.33333333333334570.3333333333334Zinc fingerZZ-type
HgeneDTNBchr2:25830105chr2:25505580ENST00000406818-521237_284149.33333333333334637.3333333333334Zinc fingerZZ-type
HgeneDTNBchr2:25830105chr2:25505580ENST00000407038-519237_284149.33333333333334577.3333333333334Zinc fingerZZ-type
HgeneDTNBchr2:25830105chr2:25505580ENST00000407661-520237_284149.33333333333334619.3333333333334Zinc fingerZZ-type
HgeneDTNBchr2:25830105chr2:25505580ENST00000496972-418237_28492.33333333333333581.3333333333334Zinc fingerZZ-type


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
DTNB
DNMT3A


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to DTNB-DNMT3A


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to DTNB-DNMT3A


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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