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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:DOCK1-PCDH15 (FusionGDB2 ID:HG1793TG65217)

Fusion Gene Summary for DOCK1-PCDH15

check button Fusion gene summary
Fusion gene informationFusion gene name: DOCK1-PCDH15
Fusion gene ID: hg1793tg65217
HgeneTgene
Gene symbol

DOCK1

PCDH15

Gene ID

1793

65217

Gene namededicator of cytokinesis 1protocadherin related 15
SynonymsDOCK180|ced5CDHR15|DFNB23|USH1F
Cytomap('DOCK1')('PCDH15')

10q26.2

10q21.1

Type of geneprotein-codingprotein-coding
Descriptiondedicator of cytokinesis protein 1180 kDa protein downstream of CRKDOwnstream of CrKprotocadherin-15cadherin-related family member 15
Modification date2020032720200313
UniProtAcc

Q14185

.
Ensembl transtripts involved in fusion geneENST00000280333, ENST00000484400, 
Fusion gene scores* DoF score17 X 17 X 11=317919 X 18 X 5=1710
# samples 2020
** MAII scorelog2(20/3179*10)=-3.99050111136325
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(20/1710*10)=-3.09592441999854
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DOCK1 [Title/Abstract] AND PCDH15 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDOCK1(129179632)-PCDH15(56287637), # samples:4
Anticipated loss of major functional domain due to fusion event.DOCK1-PCDH15 seems lost the major protein functional domain in Hgene partner, which is a essential gene 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


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
ChimerDB4BRCATCGA-C8-A1HN-01ADOCK1chr10

128860040

+PCDH15chr10

56424050

-
ChimerDB4BRCATCGA-C8-A1HN-01ADOCK1chr10

129179632

-PCDH15chr10

56287637

-
ChimerDB4BRCATCGA-C8-A1HN-01ADOCK1chr10

129179632

+PCDH15chr10

56287637

-
ChimerDB4BRCATCGA-C8-A1HNDOCK1chr10

129179632

+PCDH15chr10

56287637

-


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Fusion Gene ORF analysis for DOCK1-PCDH15

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-5UTRENST00000280333ENST00000320301DOCK1chr10

128860040

+PCDH15chr10

56424050

-
5CDS-5UTRENST00000280333ENST00000361849DOCK1chr10

128860040

+PCDH15chr10

56424050

-
5CDS-5UTRENST00000280333ENST00000373955DOCK1chr10

128860040

+PCDH15chr10

56424050

-
5CDS-5UTRENST00000280333ENST00000373957DOCK1chr10

128860040

+PCDH15chr10

56424050

-
5CDS-5UTRENST00000280333ENST00000373965DOCK1chr10

128860040

+PCDH15chr10

56424050

-
5CDS-5UTRENST00000280333ENST00000395430DOCK1chr10

128860040

+PCDH15chr10

56424050

-
5CDS-5UTRENST00000280333ENST00000395432DOCK1chr10

128860040

+PCDH15chr10

56424050

-
5CDS-5UTRENST00000280333ENST00000395433DOCK1chr10

128860040

+PCDH15chr10

56424050

-
5CDS-5UTRENST00000280333ENST00000395438DOCK1chr10

128860040

+PCDH15chr10

56424050

-
5CDS-5UTRENST00000280333ENST00000395440DOCK1chr10

128860040

+PCDH15chr10

56424050

-
5CDS-5UTRENST00000280333ENST00000395442DOCK1chr10

128860040

+PCDH15chr10

56424050

-
5CDS-5UTRENST00000280333ENST00000395445DOCK1chr10

128860040

+PCDH15chr10

56424050

-
5CDS-5UTRENST00000280333ENST00000395446DOCK1chr10

128860040

+PCDH15chr10

56424050

-
5CDS-5UTRENST00000280333ENST00000409834DOCK1chr10

128860040

+PCDH15chr10

56424050

-
5CDS-5UTRENST00000280333ENST00000414778DOCK1chr10

128860040

+PCDH15chr10

56424050

-
5CDS-5UTRENST00000280333ENST00000437009DOCK1chr10

128860040

+PCDH15chr10

56424050

-
5CDS-intronENST00000280333ENST00000320301DOCK1chr10

129179632

+PCDH15chr10

56287637

-
5CDS-intronENST00000280333ENST00000361849DOCK1chr10

129179632

+PCDH15chr10

56287637

-
5CDS-intronENST00000280333ENST00000373955DOCK1chr10

129179632

+PCDH15chr10

56287637

-
5CDS-intronENST00000280333ENST00000373957DOCK1chr10

129179632

+PCDH15chr10

56287637

-
5CDS-intronENST00000280333ENST00000395430DOCK1chr10

129179632

+PCDH15chr10

56287637

-
5CDS-intronENST00000280333ENST00000395432DOCK1chr10

129179632

+PCDH15chr10

56287637

-
5CDS-intronENST00000280333ENST00000395433DOCK1chr10

129179632

+PCDH15chr10

56287637

-
5CDS-intronENST00000280333ENST00000395440DOCK1chr10

129179632

+PCDH15chr10

56287637

-
5CDS-intronENST00000280333ENST00000395442DOCK1chr10

129179632

+PCDH15chr10

56287637

-
5CDS-intronENST00000280333ENST00000395445DOCK1chr10

129179632

+PCDH15chr10

56287637

-
5CDS-intronENST00000280333ENST00000395446DOCK1chr10

129179632

+PCDH15chr10

56287637

-
5CDS-intronENST00000280333ENST00000409834DOCK1chr10

129179632

+PCDH15chr10

56287637

-
5CDS-intronENST00000280333ENST00000437009DOCK1chr10

129179632

+PCDH15chr10

56287637

-
5CDS-intronENST00000280333ENST00000463095DOCK1chr10

128860040

+PCDH15chr10

56424050

-
5CDS-intronENST00000280333ENST00000463095DOCK1chr10

129179632

+PCDH15chr10

56287637

-
Frame-shiftENST00000280333ENST00000373965DOCK1chr10

129179632

+PCDH15chr10

56287637

-
Frame-shiftENST00000280333ENST00000395438DOCK1chr10

129179632

+PCDH15chr10

56287637

-
Frame-shiftENST00000280333ENST00000414778DOCK1chr10

129179632

+PCDH15chr10

56287637

-
intron-3CDSENST00000484400ENST00000373965DOCK1chr10

129179632

+PCDH15chr10

56287637

-
intron-3CDSENST00000484400ENST00000395438DOCK1chr10

129179632

+PCDH15chr10

56287637

-
intron-3CDSENST00000484400ENST00000414778DOCK1chr10

129179632

+PCDH15chr10

56287637

-
intron-5UTRENST00000484400ENST00000320301DOCK1chr10

128860040

+PCDH15chr10

56424050

-
intron-5UTRENST00000484400ENST00000361849DOCK1chr10

128860040

+PCDH15chr10

56424050

-
intron-5UTRENST00000484400ENST00000373955DOCK1chr10

128860040

+PCDH15chr10

56424050

-
intron-5UTRENST00000484400ENST00000373957DOCK1chr10

128860040

+PCDH15chr10

56424050

-
intron-5UTRENST00000484400ENST00000373965DOCK1chr10

128860040

+PCDH15chr10

56424050

-
intron-5UTRENST00000484400ENST00000395430DOCK1chr10

128860040

+PCDH15chr10

56424050

-
intron-5UTRENST00000484400ENST00000395432DOCK1chr10

128860040

+PCDH15chr10

56424050

-
intron-5UTRENST00000484400ENST00000395433DOCK1chr10

128860040

+PCDH15chr10

56424050

-
intron-5UTRENST00000484400ENST00000395438DOCK1chr10

128860040

+PCDH15chr10

56424050

-
intron-5UTRENST00000484400ENST00000395440DOCK1chr10

128860040

+PCDH15chr10

56424050

-
intron-5UTRENST00000484400ENST00000395442DOCK1chr10

128860040

+PCDH15chr10

56424050

-
intron-5UTRENST00000484400ENST00000395445DOCK1chr10

128860040

+PCDH15chr10

56424050

-
intron-5UTRENST00000484400ENST00000395446DOCK1chr10

128860040

+PCDH15chr10

56424050

-
intron-5UTRENST00000484400ENST00000409834DOCK1chr10

128860040

+PCDH15chr10

56424050

-
intron-5UTRENST00000484400ENST00000414778DOCK1chr10

128860040

+PCDH15chr10

56424050

-
intron-5UTRENST00000484400ENST00000437009DOCK1chr10

128860040

+PCDH15chr10

56424050

-
intron-intronENST00000484400ENST00000320301DOCK1chr10

129179632

+PCDH15chr10

56287637

-
intron-intronENST00000484400ENST00000361849DOCK1chr10

129179632

+PCDH15chr10

56287637

-
intron-intronENST00000484400ENST00000373955DOCK1chr10

129179632

+PCDH15chr10

56287637

-
intron-intronENST00000484400ENST00000373957DOCK1chr10

129179632

+PCDH15chr10

56287637

-
intron-intronENST00000484400ENST00000395430DOCK1chr10

129179632

+PCDH15chr10

56287637

-
intron-intronENST00000484400ENST00000395432DOCK1chr10

129179632

+PCDH15chr10

56287637

-
intron-intronENST00000484400ENST00000395433DOCK1chr10

129179632

+PCDH15chr10

56287637

-
intron-intronENST00000484400ENST00000395440DOCK1chr10

129179632

+PCDH15chr10

56287637

-
intron-intronENST00000484400ENST00000395442DOCK1chr10

129179632

+PCDH15chr10

56287637

-
intron-intronENST00000484400ENST00000395445DOCK1chr10

129179632

+PCDH15chr10

56287637

-
intron-intronENST00000484400ENST00000395446DOCK1chr10

129179632

+PCDH15chr10

56287637

-
intron-intronENST00000484400ENST00000409834DOCK1chr10

129179632

+PCDH15chr10

56287637

-
intron-intronENST00000484400ENST00000437009DOCK1chr10

129179632

+PCDH15chr10

56287637

-
intron-intronENST00000484400ENST00000463095DOCK1chr10

128860040

+PCDH15chr10

56424050

-
intron-intronENST00000484400ENST00000463095DOCK1chr10

129179632

+PCDH15chr10

56287637

-

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 DOCK1-PCDH15


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)


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Fusion Protein Features for DOCK1-PCDH15


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/:129179632/:56287637)
- 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
DOCK1

Q14185

.
FUNCTION: Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Along with DOCK1, mediates CRK/CRKL regulation of epithelial and endothelial cell spreading and migration on type IV collagen (PubMed:19004829). Functions as a guanine nucleotide exchange factor (GEF), which activates Rac Rho small GTPases by exchanging bound GDP for free GTP. Its GEF activity may be enhanced by ELMO1 (PubMed:8657152). {ECO:0000269|PubMed:19004829, ECO:0000269|PubMed:8657152}.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 DOCK1-PCDH15


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 DOCK1-PCDH15


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 DOCK1-PCDH15


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 DOCK1-PCDH15


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDOCK1C0013146Drug abuse1CTD_human
HgeneDOCK1C0013170Drug habituation1CTD_human
HgeneDOCK1C0013222Drug Use Disorders1CTD_human
HgeneDOCK1C0029231Organic Mental Disorders, Substance-Induced1CTD_human
HgeneDOCK1C0038580Substance Dependence1CTD_human
HgeneDOCK1C0038586Substance Use Disorders1CTD_human
HgeneDOCK1C0236969Substance-Related Disorders1CTD_human
HgeneDOCK1C0740858Substance abuse problem1CTD_human
HgeneDOCK1C1510472Drug Dependence1CTD_human
HgeneDOCK1C4316881Prescription Drug Abuse1CTD_human
TgeneC3711374Nonsyndromic Deafness20CLINGEN
TgeneC0154860Hereditary retinal dystrophy7CLINGEN
TgeneC1568247Usher Syndrome, Type I7CLINGEN
TgeneC1848638USHER SYNDROME, TYPE IB (disorder)7CLINGEN
TgeneC1848639USHER SYNDROME, TYPE IA, FORMERLY7CLINGEN
TgeneC1848640USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY7CLINGEN
TgeneC1836027Deafness, Autosomal Recessive 234CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC1832845USHER SYNDROME, TYPE ID3GENOMICS_ENGLAND;UNIPROT
TgeneC1865885Usher Syndrome, Type IF3GENOMICS_ENGLAND;UNIPROT
TgeneC1384666hearing impairment2CTD_human;GENOMICS_ENGLAND
TgeneC0009197Cochlear Diseases1CTD_human
TgeneC0011052Prelingual Deafness1CTD_human
TgeneC0011053Deafness1CTD_human
TgeneC0013146Drug abuse1CTD_human
TgeneC0013170Drug habituation1CTD_human
TgeneC0013222Drug Use Disorders1CTD_human
TgeneC0029231Organic Mental Disorders, Substance-Induced1CTD_human
TgeneC0038580Substance Dependence1CTD_human
TgeneC0038586Substance Use Disorders1CTD_human
TgeneC0086395Hearing Loss, Extreme1CTD_human
TgeneC0236969Substance-Related Disorders1CTD_human
TgeneC0271097Usher Syndrome1CTD_human
TgeneC0581883Complete Hearing Loss1CTD_human
TgeneC0740858Substance abuse problem1CTD_human
TgeneC0751068Deafness, Acquired1CTD_human
TgeneC1510472Drug Dependence1CTD_human
TgeneC1568248Usher Syndrome, Type III1CTD_human
TgeneC1568249Usher Syndrome, Type II1CTD_human
TgeneC2931205Usher syndrome, type 1A1CTD_human
TgeneC3665473Bilateral Deafness1CTD_human
TgeneC4082305Deaf Mutism1CTD_human
TgeneC4316881Prescription Drug Abuse1CTD_human