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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:ACTB-PCDH15 (FusionGDB2 ID:HG60TG65217)

Fusion Gene Summary for ACTB-PCDH15

check button Fusion gene summary
Fusion gene informationFusion gene name: ACTB-PCDH15
Fusion gene ID: hg60tg65217
HgeneTgene
Gene symbol

ACTB

PCDH15

Gene ID

60

65217

Gene nameactin betaprotocadherin related 15
SynonymsBRWS1|PS1TP5BP1CDHR15|DFNB23|USH1F
Cytomap('ACTB')('PCDH15')

7p22.1

10q21.1

Type of geneprotein-codingprotein-coding
Descriptionactin, cytoplasmic 1I(2)-actinPS1TP5-binding protein 1beta cytoskeletal actinprotocadherin-15cadherin-related family member 15
Modification date2020032720200313
UniProtAcc

P60709

.
Ensembl transtripts involved in fusion geneENST00000331789, ENST00000464611, 
Fusion gene scores* DoF score68 X 54 X 18=6609619 X 18 X 5=1710
# samples 8320
** MAII scorelog2(83/66096*10)=-6.31530781862183
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: ACTB [Title/Abstract] AND PCDH15 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACTB(5567260)-PCDH15(56512305), # 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
HgeneACTB

GO:0098974

postsynaptic actin cytoskeleton organization

18341992



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


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Fusion Gene ORF analysis for ACTB-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

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 ACTB-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 ACTB-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/:5567260/:56512305)
- 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
ACTB

P60709

.
FUNCTION: Actin is a highly conserved protein that polymerizes to produce filaments that form cross-linked networks in the cytoplasm of cells (PubMed:29581253). Actin exists in both monomeric (G-actin) and polymeric (F-actin) forms, both forms playing key functions, such as cell motility and contraction (PubMed:29581253). In addition to their role in the cytoplasmic cytoskeleton, G- and F-actin also localize in the nucleus, and regulate gene transcription and motility and repair of damaged DNA (PubMed:29925947). {ECO:0000269|PubMed:29581253, ECO:0000269|PubMed:29925947}.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 ACTB-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 ACTB-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 ACTB-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 ACTB-PCDH15


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACTBC1855722Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation6CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneACTBC1846331Juvenile-onset dystonia2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneACTBC1853623Fryns-Aftimos Syndrome2GENOMICS_ENGLAND
HgeneACTBC2239176Liver carcinoma2CTD_human
HgeneACTBC0003129Anoxemia1CTD_human
HgeneACTBC0003130Anoxia1CTD_human
HgeneACTBC0005586Bipolar Disorder1PSYGENET
HgeneACTBC0005818Blood Platelet Disorders1GENOMICS_ENGLAND
HgeneACTBC0007097Carcinoma1CTD_human
HgeneACTBC0009363Congenital ocular coloboma (disorder)1CTD_human
HgeneACTBC0013393Dysostoses1CTD_human
HgeneACTBC0013421Dystonia1CTD_human
HgeneACTBC0014859Esophageal Neoplasms1CTD_human
HgeneACTBC0018784Sensorineural Hearing Loss (disorder)1CTD_human
HgeneACTBC0019193Hepatitis, Toxic1CTD_human
HgeneACTBC0024121Lung Neoplasms1CTD_human
HgeneACTBC0024667Animal Mammary Neoplasms1CTD_human
HgeneACTBC0024668Mammary Neoplasms, Experimental1CTD_human
HgeneACTBC0027626Neoplasm Invasiveness1CTD_human
HgeneACTBC0029408Degenerative polyarthritis1CTD_human
HgeneACTBC0036341Schizophrenia1PSYGENET
HgeneACTBC0086743Osteoarthrosis Deformans1CTD_human
HgeneACTBC0151744Myocardial Ischemia1CTD_human
HgeneACTBC0205696Anaplastic carcinoma1CTD_human
HgeneACTBC0205697Carcinoma, Spindle-Cell1CTD_human
HgeneACTBC0205698Undifferentiated carcinoma1CTD_human
HgeneACTBC0205699Carcinomatosis1CTD_human
HgeneACTBC0242184Hypoxia1CTD_human
HgeneACTBC0242379Malignant neoplasm of lung1CTD_human
HgeneACTBC0263579Pigmented hairy epidermal nevus1ORPHANET
HgeneACTBC0265541Cranioschisis1CTD_human
HgeneACTBC0272183Qualitative abnormality of granulocyte1GENOMICS_ENGLAND
HgeneACTBC0376634Craniofacial Abnormalities1CTD_human
HgeneACTBC0393588Dystonia, Paroxysmal1CTD_human
HgeneACTBC0393610Dystonia, Diurnal1CTD_human
HgeneACTBC0497552Congenital neurologic anomalies1CTD_human
HgeneACTBC0546837Malignant neoplasm of esophagus1CTD_human
HgeneACTBC0700292Hypoxemia1CTD_human
HgeneACTBC0751093Dystonia, Limb1CTD_human
HgeneACTBC0860207Drug-Induced Liver Disease1CTD_human
HgeneACTBC1257925Mammary Carcinoma, Animal1CTD_human
HgeneACTBC1262760Hepatitis, Drug-Induced1CTD_human
HgeneACTBC1691779Sensory hearing loss1CTD_human
HgeneACTBC1858042Becker Nevus Syndrome1ORPHANET
HgeneACTBC3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneACTBC4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneACTBC4279912Chemically-Induced Liver Toxicity1CTD_human
HgeneACTBC4554007Uveoretinal Coloboma1CTD_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