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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:DAPK1-RBM5 (FusionGDB2 ID:21353)

Fusion Gene Summary for DAPK1-RBM5

check button Fusion gene summary
Fusion gene informationFusion gene name: DAPK1-RBM5
Fusion gene ID: 21353
HgeneTgene
Gene symbol

DAPK1

RBM5

Gene ID

1612

10181

Gene namedeath associated protein kinase 1RNA binding motif protein 5
SynonymsDAPK|ROCO3G15|H37|LUCA-15|LUCA15|RMB5
Cytomap

9q21.33

3p21.31

Type of geneprotein-codingprotein-coding
Descriptiondeath-associated protein kinase 1DAP kinase 1RNA-binding protein 5putative tumor suppressor LUCA15renal carcinoma antigen NY-REN-9
Modification date2020031320200320
UniProtAcc

P53355

.
Ensembl transtripts involved in fusion geneENST00000358077, ENST00000472284, 
ENST00000469640, ENST00000408954, 
ENST00000491893, ENST00000466188, 
ENST00000347869, ENST00000469838, 
ENST00000441812, 
Fusion gene scores* DoF score14 X 13 X 5=9108 X 7 X 5=280
# samples 148
** MAII scorelog2(14/910*10)=-2.70043971814109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/280*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DAPK1 [Title/Abstract] AND RBM5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDAPK1(90163342)-RBM5(50145518), # 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
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

TgeneRBM5

GO:0000245

spliceosomal complex assembly

18951082

TgeneRBM5

GO:0000381

regulation of alternative mRNA splicing, via spliceosome

18840686|18951082

TgeneRBM5

GO:0043065

positive regulation of apoptotic process

18840686


check buttonFusion gene breakpoints across DAPK1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across RBM5 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChiTaRS5.0N/ABI049651DAPK1chr9

90163342

+RBM5chr3

50145518

-


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Fusion Gene ORF analysis for DAPK1-RBM5

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
intron-3CDSENST00000358077ENST00000347869DAPK1chr9

90163342

+RBM5chr3

50145518

-
intron-intronENST00000358077ENST00000469838DAPK1chr9

90163342

+RBM5chr3

50145518

-
intron-3UTRENST00000358077ENST00000441812DAPK1chr9

90163342

+RBM5chr3

50145518

-
intron-3CDSENST00000472284ENST00000347869DAPK1chr9

90163342

+RBM5chr3

50145518

-
intron-intronENST00000472284ENST00000469838DAPK1chr9

90163342

+RBM5chr3

50145518

-
intron-3UTRENST00000472284ENST00000441812DAPK1chr9

90163342

+RBM5chr3

50145518

-
intron-3CDSENST00000469640ENST00000347869DAPK1chr9

90163342

+RBM5chr3

50145518

-
intron-intronENST00000469640ENST00000469838DAPK1chr9

90163342

+RBM5chr3

50145518

-
intron-3UTRENST00000469640ENST00000441812DAPK1chr9

90163342

+RBM5chr3

50145518

-
intron-3CDSENST00000408954ENST00000347869DAPK1chr9

90163342

+RBM5chr3

50145518

-
intron-intronENST00000408954ENST00000469838DAPK1chr9

90163342

+RBM5chr3

50145518

-
intron-3UTRENST00000408954ENST00000441812DAPK1chr9

90163342

+RBM5chr3

50145518

-
intron-3CDSENST00000491893ENST00000347869DAPK1chr9

90163342

+RBM5chr3

50145518

-
intron-intronENST00000491893ENST00000469838DAPK1chr9

90163342

+RBM5chr3

50145518

-
intron-3UTRENST00000491893ENST00000441812DAPK1chr9

90163342

+RBM5chr3

50145518

-
intron-3CDSENST00000466188ENST00000347869DAPK1chr9

90163342

+RBM5chr3

50145518

-
intron-intronENST00000466188ENST00000469838DAPK1chr9

90163342

+RBM5chr3

50145518

-
intron-3UTRENST00000466188ENST00000441812DAPK1chr9

90163342

+RBM5chr3

50145518

-

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-RBM5


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.

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.

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Fusion Protein Features for DAPK1-RBM5


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DAPK1

P53355

.
FUNCTION: Calcium/calmodulin-dependent serine/threonine kinase involved in multiple cellular signaling pathways that trigger cell survival, apoptosis, and autophagy. Regulates both type I apoptotic and type II autophagic cell deaths signal, depending on the cellular setting. The former is caspase-dependent, while the latter is caspase-independent and is characterized by the accumulation of autophagic vesicles. Phosphorylates PIN1 resulting in inhibition of its catalytic activity, nuclear localization, and cellular function. Phosphorylates TPM1, enhancing stress fiber formation in endothelial cells. Phosphorylates STX1A and significantly decreases its binding to STXBP1. Phosphorylates PRKD1 and regulates JNK signaling by binding and activating PRKD1 under oxidative stress. Phosphorylates BECN1, reducing its interaction with BCL2 and BCL2L1 and promoting the induction of autophagy. Phosphorylates TSC2, disrupting the TSC1-TSC2 complex and stimulating mTORC1 activity in a growth factor-dependent pathway. Phosphorylates RPS6, MYL9 and DAPK3. Acts as a signaling amplifier of NMDA receptors at extrasynaptic sites for mediating brain damage in stroke. Cerebral ischemia recruits DAPK1 into the NMDA receptor complex and it phosphorylates GRINB at Ser-1303 inducing injurious Ca(2+) influx through NMDA receptor channels, resulting in an irreversible neuronal death. Required together with DAPK3 for phosphorylation of RPL13A upon interferon-gamma activation which is causing RPL13A involvement in transcript-selective translation inhibition.; FUNCTION: Isoform 2 cannot induce apoptosis but can induce membrane blebbing.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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-RBM5


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-RBM5


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-RBM5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneDAPK1P53355DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
HgeneDAPK1P53355DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational

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Related Diseases for DAPK1-RBM5


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