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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:DIAPH3-PCDH9 (FusionGDB2 ID:22760)

Fusion Gene Summary for DIAPH3-PCDH9

check button Fusion gene summary
Fusion gene informationFusion gene name: DIAPH3-PCDH9
Fusion gene ID: 22760
HgeneTgene
Gene symbol

DIAPH3

PCDH9

Gene ID

81624

5101

Gene namediaphanous related formin 3protocadherin 9
SynonymsAN|AUNA1|DIA2|DRF3|NSDAN|diap3|mDia2-
Cytomap

13q21.2

13q21.32

Type of geneprotein-codingprotein-coding
Descriptionprotein diaphanous homolog 3diaphanous homolog 3protocadherin-9cadherin superfamily protein VR4-11
Modification date2020031320200313
UniProtAcc

Q9NSV4

.
Ensembl transtripts involved in fusion geneENST00000400324, ENST00000400330, 
ENST00000400319, ENST00000400320, 
ENST00000377908, ENST00000267215, 
ENST00000465066, 		ENST00000544246, 
ENST00000377865, ENST00000456367, 
ENST00000328454, ENST00000377861, 
Fusion gene scores* DoF score16 X 12 X 4=76813 X 11 X 4=572
# samples 1813
** MAII scorelog2(18/768*10)=-2.09310940439148
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/572*10)=-2.13750352374993
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DIAPH3 [Title/Abstract] AND PCDH9 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDIAPH3(60348323)-PCDH9(67477737), # samples:1
Anticipated loss of major functional domain due to fusion event.DIAPH3-PCDH9 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
DIAPH3-PCDH9 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
DIAPH3-PCDH9 seems lost the major protein functional domain in Tgene 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 buttonFusion gene breakpoints across DIAPH3 (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 PCDH9 (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
ChimerDB4MESOTCGA-UD-AAC5-01ADIAPH3chr13

60348323

-PCDH9chr13

67477737

-


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Fusion Gene ORF analysis for DIAPH3-PCDH9

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
Frame-shiftENST00000400324ENST00000544246DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
Frame-shiftENST00000400324ENST00000377865DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
5CDS-intronENST00000400324ENST00000456367DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
5CDS-intronENST00000400324ENST00000328454DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
5CDS-intronENST00000400324ENST00000377861DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
Frame-shiftENST00000400330ENST00000544246DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
Frame-shiftENST00000400330ENST00000377865DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
5CDS-intronENST00000400330ENST00000456367DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
5CDS-intronENST00000400330ENST00000328454DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
5CDS-intronENST00000400330ENST00000377861DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
Frame-shiftENST00000400319ENST00000544246DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
Frame-shiftENST00000400319ENST00000377865DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
5CDS-intronENST00000400319ENST00000456367DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
5CDS-intronENST00000400319ENST00000328454DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
5CDS-intronENST00000400319ENST00000377861DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
Frame-shiftENST00000400320ENST00000544246DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
Frame-shiftENST00000400320ENST00000377865DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
5CDS-intronENST00000400320ENST00000456367DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
5CDS-intronENST00000400320ENST00000328454DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
5CDS-intronENST00000400320ENST00000377861DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
Frame-shiftENST00000377908ENST00000544246DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
Frame-shiftENST00000377908ENST00000377865DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
5CDS-intronENST00000377908ENST00000456367DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
5CDS-intronENST00000377908ENST00000328454DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
5CDS-intronENST00000377908ENST00000377861DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
intron-3CDSENST00000267215ENST00000544246DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
intron-3CDSENST00000267215ENST00000377865DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
intron-intronENST00000267215ENST00000456367DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
intron-intronENST00000267215ENST00000328454DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
intron-intronENST00000267215ENST00000377861DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
intron-3CDSENST00000465066ENST00000544246DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
intron-3CDSENST00000465066ENST00000377865DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
intron-intronENST00000465066ENST00000456367DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
intron-intronENST00000465066ENST00000328454DIAPH3chr13

60348323

-PCDH9chr13

67477737

-
intron-intronENST00000465066ENST00000377861DIAPH3chr13

60348323

-PCDH9chr13

67477737

-

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 DIAPH3-PCDH9


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 DIAPH3-PCDH9


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
DIAPH3

Q9NSV4

.
FUNCTION: Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers. Required for cytokinesis, stress fiber formation and transcriptional activation of the serum response factor. Binds to GTP-bound form of Rho and to profilin: acts in a Rho-dependent manner to recruit profilin to the membrane, where it promotes actin polymerization. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics. Also acts as an actin nucleation and elongation factor in the nucleus by promoting nuclear actin polymerization inside the nucleus to drive serum-dependent SRF-MRTFA activity. {ECO:0000250|UniProtKB:Q9Z207}.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 DIAPH3-PCDH9


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 DIAPH3-PCDH9


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 DIAPH3-PCDH9


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 DIAPH3-PCDH9


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDIAPH3C1852271Auditory neuropathy2CLINGEN
HgeneDIAPH3C2732267Auditory neuropathy spectrum disorder2CLINGEN
HgeneDIAPH3C1836743AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 11CTD_human;GENOMICS_ENGLAND
TgenePCDH9C1510586Autism Spectrum Disorders1CTD_human