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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:ECD-PCDH15 (FusionGDB2 ID:24824)

Fusion Gene Summary for ECD-PCDH15

check button Fusion gene summary
Fusion gene informationFusion gene name: ECD-PCDH15
Fusion gene ID: 24824
HgeneTgene
Gene symbol

ECD

PCDH15

Gene ID

11319

65217

Gene nameecdysoneless cell cycle regulatorprotocadherin related 15
SynonymsGCR2|HSGT1|SGT1CDHR15|DFNB23|USH1F
Cytomap

10q22.2

10q21.1

Type of geneprotein-codingprotein-coding
Descriptionprotein ecdysoneless homologecdysoneless homologhuman suppressor of GCR twoprotein SGT1suppressor of GCR2suppressor of S. cerevisiae gcr2protocadherin-15cadherin-related family member 15
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000372979, ENST00000454759, 
ENST00000430082, ENST00000610256, 
ENST00000414778, ENST00000373965, 
ENST00000395438, ENST00000409834, 
ENST00000395440, ENST00000395446, 
ENST00000395442, ENST00000395445, 
ENST00000373957, ENST00000395432, 
ENST00000395433, ENST00000361849, 
ENST00000395430, ENST00000320301, 
ENST00000437009, ENST00000373955, 
ENST00000463095, 
Fusion gene scores* DoF score7 X 5 X 5=17519 X 18 X 5=1710
# samples 720
** MAII scorelog2(7/175*10)=-1.32192809488736
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: ECD [Title/Abstract] AND PCDH15 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointECD(74894361)-PCDH15(55996691), # samples:2
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
HgeneECD

GO:0045944

positive regulation of transcription by RNA polymerase II

19919181


check buttonFusion gene breakpoints across ECD (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 PCDH15 (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
ChimerDB4LUSCTCGA-85-A4QR-01AECDchr10

74894361

-PCDH15chr10

55996691

-
ChimerDB4LUSCTCGA-85-A4QRECDchr10

74894361

-PCDH15chr10

55996691

-


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Fusion Gene ORF analysis for ECD-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
intron-3CDSENST00000372979ENST00000414778ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-3CDSENST00000372979ENST00000373965ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-3CDSENST00000372979ENST00000395438ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000372979ENST00000409834ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000372979ENST00000395440ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000372979ENST00000395446ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000372979ENST00000395442ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000372979ENST00000395445ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000372979ENST00000373957ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000372979ENST00000395432ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000372979ENST00000395433ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000372979ENST00000361849ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000372979ENST00000395430ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000372979ENST00000320301ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000372979ENST00000437009ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000372979ENST00000373955ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000372979ENST00000463095ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-3CDSENST00000454759ENST00000414778ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-3CDSENST00000454759ENST00000373965ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-3CDSENST00000454759ENST00000395438ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000454759ENST00000409834ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000454759ENST00000395440ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000454759ENST00000395446ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000454759ENST00000395442ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000454759ENST00000395445ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000454759ENST00000373957ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000454759ENST00000395432ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000454759ENST00000395433ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000454759ENST00000361849ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000454759ENST00000395430ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000454759ENST00000320301ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000454759ENST00000437009ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000454759ENST00000373955ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000454759ENST00000463095ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-3CDSENST00000430082ENST00000414778ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-3CDSENST00000430082ENST00000373965ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-3CDSENST00000430082ENST00000395438ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000430082ENST00000409834ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000430082ENST00000395440ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000430082ENST00000395446ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000430082ENST00000395442ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000430082ENST00000395445ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000430082ENST00000373957ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000430082ENST00000395432ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000430082ENST00000395433ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000430082ENST00000361849ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000430082ENST00000395430ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000430082ENST00000320301ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000430082ENST00000437009ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000430082ENST00000373955ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000430082ENST00000463095ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-3CDSENST00000610256ENST00000414778ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-3CDSENST00000610256ENST00000373965ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-3CDSENST00000610256ENST00000395438ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000610256ENST00000409834ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000610256ENST00000395440ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000610256ENST00000395446ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000610256ENST00000395442ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000610256ENST00000395445ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000610256ENST00000373957ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000610256ENST00000395432ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000610256ENST00000395433ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000610256ENST00000361849ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000610256ENST00000395430ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000610256ENST00000320301ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000610256ENST00000437009ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000610256ENST00000373955ECDchr10

74894361

-PCDH15chr10

55996691

-
intron-intronENST00000610256ENST00000463095ECDchr10

74894361

-PCDH15chr10

55996691

-

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 ECD-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)

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 ECD-PCDH15


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
..
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.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 ECD-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 ECD-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 ECD-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 ECD-PCDH15


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePCDH15C3711374Nonsyndromic Deafness20CLINGEN
TgenePCDH15C0154860Hereditary retinal dystrophy7CLINGEN
TgenePCDH15C1568247Usher Syndrome, Type I7CLINGEN
TgenePCDH15C1848638USHER SYNDROME, TYPE IB (disorder)7CLINGEN
TgenePCDH15C1848639USHER SYNDROME, TYPE IA, FORMERLY7CLINGEN
TgenePCDH15C1848640USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY7CLINGEN
TgenePCDH15C1836027Deafness, Autosomal Recessive 234CTD_human;GENOMICS_ENGLAND;UNIPROT
TgenePCDH15C1832845USHER SYNDROME, TYPE ID3GENOMICS_ENGLAND;UNIPROT
TgenePCDH15C1865885Usher Syndrome, Type IF3GENOMICS_ENGLAND;UNIPROT
TgenePCDH15C1384666hearing impairment2CTD_human;GENOMICS_ENGLAND
TgenePCDH15C0009197Cochlear Diseases1CTD_human
TgenePCDH15C0011052Prelingual Deafness1CTD_human
TgenePCDH15C0011053Deafness1CTD_human
TgenePCDH15C0013146Drug abuse1CTD_human
TgenePCDH15C0013170Drug habituation1CTD_human
TgenePCDH15C0013222Drug Use Disorders1CTD_human
TgenePCDH15C0029231Organic Mental Disorders, Substance-Induced1CTD_human
TgenePCDH15C0038580Substance Dependence1CTD_human
TgenePCDH15C0038586Substance Use Disorders1CTD_human
TgenePCDH15C0086395Hearing Loss, Extreme1CTD_human
TgenePCDH15C0236969Substance-Related Disorders1CTD_human
TgenePCDH15C0271097Usher Syndrome1CTD_human
TgenePCDH15C0581883Complete Hearing Loss1CTD_human
TgenePCDH15C0740858Substance abuse problem1CTD_human
TgenePCDH15C0751068Deafness, Acquired1CTD_human
TgenePCDH15C1510472Drug Dependence1CTD_human
TgenePCDH15C1568248Usher Syndrome, Type III1CTD_human
TgenePCDH15C1568249Usher Syndrome, Type II1CTD_human
TgenePCDH15C2931205Usher syndrome, type 1A1CTD_human
TgenePCDH15C3665473Bilateral Deafness1CTD_human
TgenePCDH15C4082305Deaf Mutism1CTD_human
TgenePCDH15C4316881Prescription Drug Abuse1CTD_human