Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:AP3D1-DOT1L (FusionGDB2 ID:HG8943TG84444)

Fusion Gene Summary for AP3D1-DOT1L

check button Fusion gene summary
Fusion gene informationFusion gene name: AP3D1-DOT1L
Fusion gene ID: hg8943tg84444
HgeneTgene
Gene symbol

AP3D1

DOT1L

Gene ID

8943

84444

Gene nameadaptor related protein complex 3 subunit delta 1DOT1 like histone lysine methyltransferase
SynonymsADTD|HPS10|hBLVRDOT1|KMT4
Cytomap('AP3D1')('DOT1L')

19p13.3

19p13.3

Type of geneprotein-codingprotein-coding
DescriptionAP-3 complex subunit delta-1AP-3 complex delta subunit, partial CDSadapter-related protein complex 3 subunit delta-1adaptor related protein complex 3 delta 1 subunitdelta adaptinsubunit of putative vesicle coat adaptor complex AP-3histone-lysine N-methyltransferase, H3 lysine-79 specificDOT1 like histone H3K79 methyltransferaseDOT1-like histone methyltransferaseDOT1-like proteinDOT1-like, histone H3 methyltransferaseH3-K79-HMTasehistone H3-K79 methyltransferasehistone methyl
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000345016, ENST00000350812, 
ENST00000355272, ENST00000356926, 
ENST00000590683, 
Fusion gene scores* DoF score16 X 16 X 10=25609 X 9 X 8=648
# samples 1910
** MAII scorelog2(19/2560*10)=-3.75207248655641
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/648*10)=-2.6959938131099
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AP3D1 [Title/Abstract] AND DOT1L [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAP3D1(2151238)-DOT1L(2180712), # samples:2
Anticipated loss of major functional domain due to fusion event.AP3D1-DOT1L 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.
AP3D1-DOT1L 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.
AP3D1-DOT1L 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.
AP3D1-DOT1L 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.
* 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
TgeneDOT1L

GO:0008284

positive regulation of cell proliferation

15851025

TgeneDOT1L

GO:0034729

histone H3-K79 methylation

15851025

TgeneDOT1L

GO:0045944

positive regulation of transcription by RNA polymerase II

15851025

TgeneDOT1L

GO:0046425

regulation of JAK-STAT cascade

22002246


check buttonFusion gene breakpoints across AP3D1 (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 DOT1L (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
* 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
ChimerDB4BLCATCGA-GV-A40G-01AAP3D1chr19

2151238

-DOT1Lchr19

2180712

+
ChimerDB4PAADTCGA-3A-A9IH-01AAP3D1chr19

2151238

-DOT1Lchr19

2210399

+


Top

Fusion Gene ORF analysis for AP3D1-DOT1L

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-intronENST00000345016ENST00000608122AP3D1chr19

2151238

-DOT1Lchr19

2180712

+
5CDS-intronENST00000345016ENST00000608122AP3D1chr19

2151238

-DOT1Lchr19

2210399

+
5CDS-intronENST00000350812ENST00000608122AP3D1chr19

2151238

-DOT1Lchr19

2180712

+
5CDS-intronENST00000350812ENST00000608122AP3D1chr19

2151238

-DOT1Lchr19

2210399

+
5CDS-intronENST00000355272ENST00000608122AP3D1chr19

2151238

-DOT1Lchr19

2180712

+
5CDS-intronENST00000355272ENST00000608122AP3D1chr19

2151238

-DOT1Lchr19

2210399

+
5CDS-intronENST00000356926ENST00000608122AP3D1chr19

2151238

-DOT1Lchr19

2180712

+
5CDS-intronENST00000356926ENST00000608122AP3D1chr19

2151238

-DOT1Lchr19

2210399

+
In-frameENST00000345016ENST00000398665AP3D1chr19

2151238

-DOT1Lchr19

2180712

+
In-frameENST00000345016ENST00000398665AP3D1chr19

2151238

-DOT1Lchr19

2210399

+
In-frameENST00000350812ENST00000398665AP3D1chr19

2151238

-DOT1Lchr19

2180712

+
In-frameENST00000350812ENST00000398665AP3D1chr19

2151238

-DOT1Lchr19

2210399

+
In-frameENST00000355272ENST00000398665AP3D1chr19

2151238

-DOT1Lchr19

2180712

+
In-frameENST00000355272ENST00000398665AP3D1chr19

2151238

-DOT1Lchr19

2210399

+
In-frameENST00000356926ENST00000398665AP3D1chr19

2151238

-DOT1Lchr19

2180712

+
In-frameENST00000356926ENST00000398665AP3D1chr19

2151238

-DOT1Lchr19

2210399

+
intron-3CDSENST00000590683ENST00000398665AP3D1chr19

2151238

-DOT1Lchr19

2180712

+
intron-3CDSENST00000590683ENST00000398665AP3D1chr19

2151238

-DOT1Lchr19

2210399

+
intron-intronENST00000590683ENST00000608122AP3D1chr19

2151238

-DOT1Lchr19

2180712

+
intron-intronENST00000590683ENST00000608122AP3D1chr19

2151238

-DOT1Lchr19

2210399

+

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

Top

Fusion Genomic Features for AP3D1-DOT1L


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)
AP3D1chr192151237-DOT1Lchr192180711+3.99E-121
AP3D1chr192151237-DOT1Lchr192210398+1.24E-121
AP3D1chr192151237-DOT1Lchr192180711+3.99E-121
AP3D1chr192151237-DOT1Lchr192210398+1.24E-121

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%

Top

Fusion Protein Features for AP3D1-DOT1L


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/chr19:2151238/chr19:2180712)
- 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
TgeneDOT1Lchr19:2151238chr19:2180712ENST00000398665028159_168271538.0RegionNote=S-adenosyl-L-methionine binding
TgeneDOT1Lchr19:2151238chr19:2180712ENST00000398665028222_223271538.0RegionNote=S-adenosyl-L-methionine binding

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAP3D1chr19:2151238chr19:2180712ENST00000345016-130659_679321154.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2151238chr19:2180712ENST00000345016-130725_756321154.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2151238chr19:2180712ENST00000345016-130845_869321154.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2151238chr19:2180712ENST00000355272-132659_679321216.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2151238chr19:2180712ENST00000355272-132725_756321216.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2151238chr19:2180712ENST00000355272-132845_869321216.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2151238chr19:2210399ENST00000345016-130659_679321154.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2151238chr19:2210399ENST00000345016-130725_756321154.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2151238chr19:2210399ENST00000345016-130845_869321154.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2151238chr19:2210399ENST00000355272-132659_679321216.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2151238chr19:2210399ENST00000355272-132725_756321216.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2151238chr19:2210399ENST00000355272-132845_869321216.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2151238chr19:2180712ENST00000345016-130828_893321154.0Compositional biasNote=Lys-rich
HgeneAP3D1chr19:2151238chr19:2180712ENST00000355272-132828_893321216.0Compositional biasNote=Lys-rich
HgeneAP3D1chr19:2151238chr19:2210399ENST00000345016-130828_893321154.0Compositional biasNote=Lys-rich
HgeneAP3D1chr19:2151238chr19:2210399ENST00000355272-132828_893321216.0Compositional biasNote=Lys-rich
HgeneAP3D1chr19:2151238chr19:2180712ENST00000345016-130142_179321154.0RepeatNote=HEAT 3
HgeneAP3D1chr19:2151238chr19:2180712ENST00000345016-130180_216321154.0RepeatNote=HEAT 4
HgeneAP3D1chr19:2151238chr19:2180712ENST00000345016-130254_292321154.0RepeatNote=HEAT 5
HgeneAP3D1chr19:2151238chr19:2180712ENST00000345016-130299_336321154.0RepeatNote=HEAT 6
HgeneAP3D1chr19:2151238chr19:2180712ENST00000345016-130338_373321154.0RepeatNote=HEAT 7
HgeneAP3D1chr19:2151238chr19:2180712ENST00000345016-13034_71321154.0RepeatNote=HEAT 1
HgeneAP3D1chr19:2151238chr19:2180712ENST00000345016-130375_409321154.0RepeatNote=HEAT 8
HgeneAP3D1chr19:2151238chr19:2180712ENST00000345016-130431_468321154.0RepeatNote=HEAT 9
HgeneAP3D1chr19:2151238chr19:2180712ENST00000345016-130497_535321154.0RepeatNote=HEAT 10
HgeneAP3D1chr19:2151238chr19:2180712ENST00000345016-130548_585321154.0RepeatNote=HEAT 11
HgeneAP3D1chr19:2151238chr19:2180712ENST00000345016-13077_114321154.0RepeatNote=HEAT 2
HgeneAP3D1chr19:2151238chr19:2180712ENST00000355272-132142_179321216.0RepeatNote=HEAT 3
HgeneAP3D1chr19:2151238chr19:2180712ENST00000355272-132180_216321216.0RepeatNote=HEAT 4
HgeneAP3D1chr19:2151238chr19:2180712ENST00000355272-132254_292321216.0RepeatNote=HEAT 5
HgeneAP3D1chr19:2151238chr19:2180712ENST00000355272-132299_336321216.0RepeatNote=HEAT 6
HgeneAP3D1chr19:2151238chr19:2180712ENST00000355272-132338_373321216.0RepeatNote=HEAT 7
HgeneAP3D1chr19:2151238chr19:2180712ENST00000355272-13234_71321216.0RepeatNote=HEAT 1
HgeneAP3D1chr19:2151238chr19:2180712ENST00000355272-132375_409321216.0RepeatNote=HEAT 8
HgeneAP3D1chr19:2151238chr19:2180712ENST00000355272-132431_468321216.0RepeatNote=HEAT 9
HgeneAP3D1chr19:2151238chr19:2180712ENST00000355272-132497_535321216.0RepeatNote=HEAT 10
HgeneAP3D1chr19:2151238chr19:2180712ENST00000355272-132548_585321216.0RepeatNote=HEAT 11
HgeneAP3D1chr19:2151238chr19:2180712ENST00000355272-13277_114321216.0RepeatNote=HEAT 2
HgeneAP3D1chr19:2151238chr19:2210399ENST00000345016-130142_179321154.0RepeatNote=HEAT 3
HgeneAP3D1chr19:2151238chr19:2210399ENST00000345016-130180_216321154.0RepeatNote=HEAT 4
HgeneAP3D1chr19:2151238chr19:2210399ENST00000345016-130254_292321154.0RepeatNote=HEAT 5
HgeneAP3D1chr19:2151238chr19:2210399ENST00000345016-130299_336321154.0RepeatNote=HEAT 6
HgeneAP3D1chr19:2151238chr19:2210399ENST00000345016-130338_373321154.0RepeatNote=HEAT 7
HgeneAP3D1chr19:2151238chr19:2210399ENST00000345016-13034_71321154.0RepeatNote=HEAT 1
HgeneAP3D1chr19:2151238chr19:2210399ENST00000345016-130375_409321154.0RepeatNote=HEAT 8
HgeneAP3D1chr19:2151238chr19:2210399ENST00000345016-130431_468321154.0RepeatNote=HEAT 9
HgeneAP3D1chr19:2151238chr19:2210399ENST00000345016-130497_535321154.0RepeatNote=HEAT 10
HgeneAP3D1chr19:2151238chr19:2210399ENST00000345016-130548_585321154.0RepeatNote=HEAT 11
HgeneAP3D1chr19:2151238chr19:2210399ENST00000345016-13077_114321154.0RepeatNote=HEAT 2
HgeneAP3D1chr19:2151238chr19:2210399ENST00000355272-132142_179321216.0RepeatNote=HEAT 3
HgeneAP3D1chr19:2151238chr19:2210399ENST00000355272-132180_216321216.0RepeatNote=HEAT 4
HgeneAP3D1chr19:2151238chr19:2210399ENST00000355272-132254_292321216.0RepeatNote=HEAT 5
HgeneAP3D1chr19:2151238chr19:2210399ENST00000355272-132299_336321216.0RepeatNote=HEAT 6
HgeneAP3D1chr19:2151238chr19:2210399ENST00000355272-132338_373321216.0RepeatNote=HEAT 7
HgeneAP3D1chr19:2151238chr19:2210399ENST00000355272-13234_71321216.0RepeatNote=HEAT 1
HgeneAP3D1chr19:2151238chr19:2210399ENST00000355272-132375_409321216.0RepeatNote=HEAT 8
HgeneAP3D1chr19:2151238chr19:2210399ENST00000355272-132431_468321216.0RepeatNote=HEAT 9
HgeneAP3D1chr19:2151238chr19:2210399ENST00000355272-132497_535321216.0RepeatNote=HEAT 10
HgeneAP3D1chr19:2151238chr19:2210399ENST00000355272-132548_585321216.0RepeatNote=HEAT 11
HgeneAP3D1chr19:2151238chr19:2210399ENST00000355272-13277_114321216.0RepeatNote=HEAT 2
TgeneDOT1Lchr19:2151238chr19:2180712ENST0000039866502816_330271538.0DomainDOT1
TgeneDOT1Lchr19:2151238chr19:2210399ENST00000398665112816_3303351538.0DomainDOT1
TgeneDOT1Lchr19:2151238chr19:2210399ENST000003986651128159_1683351538.0RegionNote=S-adenosyl-L-methionine binding
TgeneDOT1Lchr19:2151238chr19:2210399ENST000003986651128222_2233351538.0RegionNote=S-adenosyl-L-methionine binding


Top

Fusion Gene Sequence for AP3D1-DOT1L


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.

Top

Fusion Gene PPI Analysis for AP3D1-DOT1L


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


Top

Related Drugs for AP3D1-DOT1L


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for AP3D1-DOT1L


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAP3D1C0001916Albinism1GENOMICS_ENGLAND
HgeneAP3D1C0005818Blood Platelet Disorders1GENOMICS_ENGLAND
HgeneAP3D1C0027947Neutropenia1GENOMICS_ENGLAND
HgeneAP3D1C0036572Seizures1GENOMICS_ENGLAND
HgeneAP3D1C0078917Albinism, Ocular1ORPHANET
HgeneAP3D1C0079504Hermanski-Pudlak Syndrome1CTD_human;GENOMICS_ENGLAND
HgeneAP3D1C4310746HERMANSKY-PUDLAK SYNDROME 101GENOMICS_ENGLAND
TgeneC0152013Adenocarcinoma of lung (disorder)1CTD_human