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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:SRP14-DOCK8 (FusionGDB2 ID:86426)

Fusion Gene Summary for SRP14-DOCK8

check button Fusion gene summary
Fusion gene informationFusion gene name: SRP14-DOCK8
Fusion gene ID: 86426
HgeneTgene
Gene symbol

SRP14

DOCK8

Gene ID

6727

81704

Gene namesignal recognition particle 14dedicator of cytokinesis 8
SynonymsALURBPHEL-205|MRD2|ZIR8
Cytomap

15q15.1

9p24.3

Type of geneprotein-codingprotein-coding
Descriptionsignal recognition particle 14 kDa protein18 kDa Alu RNA-binding proteinhomologous Alu RNA binding proteindedicator of cytokinesis protein 81200017A24Rikepididymis luminal protein 205
Modification date2020031320200327
UniProtAcc.

Q8NF50

Ensembl transtripts involved in fusion geneENST00000558527, ENST00000558720, 
ENST00000267884, ENST00000559081, 
ENST00000560773, 		ENST00000382329, 
ENST00000382331, ENST00000432829, 
ENST00000453981, ENST00000469391, 
ENST00000493666, 
Fusion gene scores* DoF score11 X 11 X 4=4849 X 14 X 10=1260
# samples 1216
** MAII scorelog2(12/484*10)=-2.01197264166608
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/1260*10)=-2.97727992349992
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SRP14 [Title/Abstract] AND DOCK8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSRP14(40328242)-DOCK8(389594), # 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
HgeneSRP14

GO:0042493

response to drug

18089836

TgeneDOCK8

GO:0043547

positive regulation of GTPase activity

28028151


check buttonFusion gene breakpoints across SRP14 (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 DOCK8 (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/ABC071716SRP14chr15

40328242

-DOCK8chr9

389594

+


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Fusion Gene ORF analysis for SRP14-DOCK8

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-intronENST00000558527ENST00000382329SRP14chr15

40328242

-DOCK8chr9

389594

+
5CDS-intronENST00000558527ENST00000382331SRP14chr15

40328242

-DOCK8chr9

389594

+
5CDS-intronENST00000558527ENST00000432829SRP14chr15

40328242

-DOCK8chr9

389594

+
5CDS-intronENST00000558527ENST00000453981SRP14chr15

40328242

-DOCK8chr9

389594

+
5CDS-intronENST00000558527ENST00000469391SRP14chr15

40328242

-DOCK8chr9

389594

+
5CDS-intronENST00000558527ENST00000493666SRP14chr15

40328242

-DOCK8chr9

389594

+
5CDS-intronENST00000558720ENST00000382329SRP14chr15

40328242

-DOCK8chr9

389594

+
5CDS-intronENST00000558720ENST00000382331SRP14chr15

40328242

-DOCK8chr9

389594

+
5CDS-intronENST00000558720ENST00000432829SRP14chr15

40328242

-DOCK8chr9

389594

+
5CDS-intronENST00000558720ENST00000453981SRP14chr15

40328242

-DOCK8chr9

389594

+
5CDS-intronENST00000558720ENST00000469391SRP14chr15

40328242

-DOCK8chr9

389594

+
5CDS-intronENST00000558720ENST00000493666SRP14chr15

40328242

-DOCK8chr9

389594

+
intron-intronENST00000267884ENST00000382329SRP14chr15

40328242

-DOCK8chr9

389594

+
intron-intronENST00000267884ENST00000382331SRP14chr15

40328242

-DOCK8chr9

389594

+
intron-intronENST00000267884ENST00000432829SRP14chr15

40328242

-DOCK8chr9

389594

+
intron-intronENST00000267884ENST00000453981SRP14chr15

40328242

-DOCK8chr9

389594

+
intron-intronENST00000267884ENST00000469391SRP14chr15

40328242

-DOCK8chr9

389594

+
intron-intronENST00000267884ENST00000493666SRP14chr15

40328242

-DOCK8chr9

389594

+
intron-intronENST00000559081ENST00000382329SRP14chr15

40328242

-DOCK8chr9

389594

+
intron-intronENST00000559081ENST00000382331SRP14chr15

40328242

-DOCK8chr9

389594

+
intron-intronENST00000559081ENST00000432829SRP14chr15

40328242

-DOCK8chr9

389594

+
intron-intronENST00000559081ENST00000453981SRP14chr15

40328242

-DOCK8chr9

389594

+
intron-intronENST00000559081ENST00000469391SRP14chr15

40328242

-DOCK8chr9

389594

+
intron-intronENST00000559081ENST00000493666SRP14chr15

40328242

-DOCK8chr9

389594

+
intron-intronENST00000560773ENST00000382329SRP14chr15

40328242

-DOCK8chr9

389594

+
intron-intronENST00000560773ENST00000382331SRP14chr15

40328242

-DOCK8chr9

389594

+
intron-intronENST00000560773ENST00000432829SRP14chr15

40328242

-DOCK8chr9

389594

+
intron-intronENST00000560773ENST00000453981SRP14chr15

40328242

-DOCK8chr9

389594

+
intron-intronENST00000560773ENST00000469391SRP14chr15

40328242

-DOCK8chr9

389594

+
intron-intronENST00000560773ENST00000493666SRP14chr15

40328242

-DOCK8chr9

389594

+

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 SRP14-DOCK8


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 SRP14-DOCK8


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/:40328242/:389594)
- 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
.DOCK8

Q8NF50

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: Guanine nucleotide exchange factor (GEF) which specifically activates small GTPase CDC42 by exchanging bound GDP for free GTP (PubMed:28028151, PubMed:22461490). During immune responses, required for interstitial dendritic cell (DC) migration by locally activating CDC42 at the leading edge membrane of DC (By similarity). Required for CD4(+) T-cell migration in response to chemokine stimulation by promoting CDC42 activation at T cell leading edge membrane (PubMed:28028151). Is involved in NK cell cytotoxicity by controlling polarization of microtubule-organizing center (MTOC), and possibly regulating CCDC88B-mediated lytic granule transport to MTOC during cell killing (PubMed:25762780). {ECO:0000250|UniProtKB:Q8C147, ECO:0000269|PubMed:22461490, ECO:0000269|PubMed:25762780, ECO:0000269|PubMed:28028151}.

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 SRP14-DOCK8


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 SRP14-DOCK8


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 SRP14-DOCK8


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 SRP14-DOCK8


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