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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:DAPK1-AGTPBP1 (FusionGDB2 ID:HG1612TG23287)

Fusion Gene Summary for DAPK1-AGTPBP1

check button Fusion gene summary
Fusion gene informationFusion gene name: DAPK1-AGTPBP1
Fusion gene ID: hg1612tg23287
HgeneTgene
Gene symbol

DAPK1

AGTPBP1

Gene ID

1612

23287

Gene namedeath associated protein kinase 1ATP/GTP binding protein 1
SynonymsDAPK|ROCO3CCP1|CONDCA|NNA1
Cytomap('DAPK1')('AGTPBP1')

9q21.33

9q21.33

Type of geneprotein-codingprotein-coding
Descriptiondeath-associated protein kinase 1DAP kinase 1cytosolic carboxypeptidase 1carboxypeptidase-tubulinnervous system nuclear protein induced by axotomy protein 1 homologsoluble carboxypeptidasetubulinyl-Tyr carboxypeptidasetyrosine carboxypeptidase
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000358077, ENST00000408954, 
ENST00000469640, ENST00000472284, 
ENST00000491893, ENST00000466188, 
ENST00000466188, ENST00000358077, 
ENST00000408954, ENST00000469640, 
ENST00000472284, ENST00000491893, 
Fusion gene scores* DoF score14 X 13 X 5=91013 X 9 X 7=819
# samples 1413
** MAII scorelog2(14/910*10)=-2.70043971814109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/819*10)=-2.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DAPK1 [Title/Abstract] AND AGTPBP1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDAPK1(90114054)-AGTPBP1(88236200), # samples:4
Anticipated loss of major functional domain due to fusion event.AGTPBP1-DAPK1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
AGTPBP1-DAPK1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
AGTPBP1-DAPK1 seems lost the major protein functional domain in Tgene partner, which is a kinase due to the frame-shifted ORF.
AGTPBP1-DAPK1 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
HgeneDAPK1

GO:0006468

protein phosphorylation

10629061

HgeneDAPK1

GO:0017148

negative regulation of translation

18995835

HgeneDAPK1

GO:0035556

intracellular signal transduction

10629061

HgeneDAPK1

GO:0043280

positive regulation of cysteine-type endopeptidase activity involved in apoptotic process

16132846

HgeneDAPK1

GO:0046777

protein autophosphorylation

10629061|12730201

HgeneDAPK1

GO:0071346

cellular response to interferon-gamma

18995835



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
ChimerDB4LUADTCGA-86-8075-01ADAPK1chr9

90114054

-AGTPBP1chr9

88236200

-
ChimerDB4LUADTCGA-86-8075-01ADAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
ChimerDB4LUADTCGA-86-8075DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-


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Fusion Gene ORF analysis for DAPK1-AGTPBP1

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-3UTRENST00000358077ENST00000337006DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-3UTRENST00000358077ENST00000357081DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-3UTRENST00000358077ENST00000376083DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-3UTRENST00000358077ENST00000376109DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-3UTRENST00000358077ENST00000432218DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-3UTRENST00000408954ENST00000337006DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-3UTRENST00000408954ENST00000357081DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-3UTRENST00000408954ENST00000376083DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-3UTRENST00000408954ENST00000376109DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-3UTRENST00000408954ENST00000432218DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-3UTRENST00000469640ENST00000337006DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-3UTRENST00000469640ENST00000357081DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-3UTRENST00000469640ENST00000376083DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-3UTRENST00000469640ENST00000376109DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-3UTRENST00000469640ENST00000432218DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-3UTRENST00000472284ENST00000337006DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-3UTRENST00000472284ENST00000357081DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-3UTRENST00000472284ENST00000376083DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-3UTRENST00000472284ENST00000376109DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-3UTRENST00000472284ENST00000432218DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-3UTRENST00000491893ENST00000337006DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-3UTRENST00000491893ENST00000357081DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-3UTRENST00000491893ENST00000376083DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-3UTRENST00000491893ENST00000376109DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-3UTRENST00000491893ENST00000432218DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-intronENST00000358077ENST00000376080DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-intronENST00000358077ENST00000376081DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-intronENST00000358077ENST00000491784DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-intronENST00000408954ENST00000376080DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-intronENST00000408954ENST00000376081DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-intronENST00000408954ENST00000491784DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-intronENST00000469640ENST00000376080DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-intronENST00000469640ENST00000376081DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-intronENST00000469640ENST00000491784DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-intronENST00000472284ENST00000376080DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-intronENST00000472284ENST00000376081DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-intronENST00000472284ENST00000491784DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-intronENST00000491893ENST00000376080DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-intronENST00000491893ENST00000376081DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
5CDS-intronENST00000491893ENST00000491784DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
intron-3UTRENST00000466188ENST00000337006DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
intron-3UTRENST00000466188ENST00000357081DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
intron-3UTRENST00000466188ENST00000376083DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
intron-3UTRENST00000466188ENST00000376109DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
intron-3UTRENST00000466188ENST00000432218DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
intron-intronENST00000466188ENST00000376080DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
intron-intronENST00000466188ENST00000376081DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-
intron-intronENST00000466188ENST00000491784DAPK1chr9

90114054

+AGTPBP1chr9

88236200

-

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 DAPK1-AGTPBP1


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.
genomic feature

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Fusion Protein Features for DAPK1-AGTPBP1


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/:90114054/:88236200)
- 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 DAPK1-AGTPBP1


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 DAPK1-AGTPBP1


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 DAPK1-AGTPBP1


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 DAPK1-AGTPBP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDAPK1C0001418Adenocarcinoma1CTD_human
HgeneDAPK1C0006118Brain Neoplasms1CTD_human
HgeneDAPK1C0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneDAPK1C0007134Renal Cell Carcinoma1CTD_human
HgeneDAPK1C0007138Carcinoma, Transitional Cell1CTD_human
HgeneDAPK1C0009759Conjunctival Diseases1CTD_human
HgeneDAPK1C0010606Adenoid Cystic Carcinoma1CTD_human
HgeneDAPK1C0023467Leukemia, Myelocytic, Acute1CTD_human
HgeneDAPK1C0024121Lung Neoplasms1CTD_human
HgeneDAPK1C0026998Acute Myeloid Leukemia, M11CTD_human
HgeneDAPK1C0027627Neoplasm Metastasis1CTD_human
HgeneDAPK1C0035242Respiratory Tract Diseases1CTD_human
HgeneDAPK1C0036095Salivary Gland Neoplasms1CTD_human
HgeneDAPK1C0085183Neoplasms, Second Primary1CTD_human
HgeneDAPK1C0086696Neoplasms, Therapy-Associated1CTD_human
HgeneDAPK1C0087031Juvenile-Onset Still Disease1CTD_human
HgeneDAPK1C0153633Malignant neoplasm of brain1CTD_human
HgeneDAPK1C0205641Adenocarcinoma, Basal Cell1CTD_human
HgeneDAPK1C0205642Adenocarcinoma, Oxyphilic1CTD_human
HgeneDAPK1C0205643Carcinoma, Cribriform1CTD_human
HgeneDAPK1C0205644Carcinoma, Granular Cell1CTD_human
HgeneDAPK1C0205645Adenocarcinoma, Tubular1CTD_human
HgeneDAPK1C0220636Malignant neoplasm of salivary gland1CTD_human
HgeneDAPK1C0242379Malignant neoplasm of lung1CTD_human
HgeneDAPK1C0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
HgeneDAPK1C0496899Benign neoplasm of brain, unspecified1CTD_human
HgeneDAPK1C0750974Brain Tumor, Primary1CTD_human
HgeneDAPK1C0750977Recurrent Brain Neoplasm1CTD_human
HgeneDAPK1C0750979Primary malignant neoplasm of brain1CTD_human
HgeneDAPK1C0877578Treatment related secondary malignancy1CTD_human
HgeneDAPK1C1266042Chromophobe Renal Cell Carcinoma1CTD_human
HgeneDAPK1C1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
HgeneDAPK1C1266044Collecting Duct Carcinoma of the Kidney1CTD_human
HgeneDAPK1C1306837Papillary Renal Cell Carcinoma1CTD_human
HgeneDAPK1C1527390Neoplasms, Intracranial1CTD_human
HgeneDAPK1C1879321Acute Myeloid Leukemia (AML-M2)1CTD_human
HgeneDAPK1C2713368Hematopoetic Myelodysplasia1CTD_human
HgeneDAPK1C3463824MYELODYSPLASTIC SYNDROME1CTD_human
HgeneDAPK1C3495559Juvenile arthritis1CTD_human
HgeneDAPK1C3714758Juvenile psoriatic arthritis1CTD_human
HgeneDAPK1C4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
HgeneDAPK1C4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human
HgeneDAPK1C4721453Peripheral Nervous System Diseases1CTD_human
TgeneC0027746Nerve Degeneration1CTD_human
TgeneC4748934NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY1GENOMICS_ENGLAND;UNIPROT