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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:CERS4-PRKCSH (FusionGDB2 ID:HG79603TG5589)

Fusion Gene Summary for CERS4-PRKCSH

check button Fusion gene summary
Fusion gene informationFusion gene name: CERS4-PRKCSH
Fusion gene ID: hg79603tg5589
HgeneTgene
Gene symbol

CERS4

PRKCSH

Gene ID

79603

5589

Gene nameceramide synthase 4protein kinase C substrate 80K-H
SynonymsLASS4|Trh1AGE-R2|G19P1|GIIB|PCLD|PCLD1|PKCSH|PLD1|VASAP-60
Cytomap('CERS4')('PRKCSH')

19p13.2

19p13.2

Type of geneprotein-codingprotein-coding
Descriptionceramide synthase 4LAG1 homolog, ceramide synthase 4LAG1 longevity assurance homolog 4sphingosine N-acyltransferase CERS4glucosidase 2 subunit betaAGE-binding receptor 2advanced glycation end-product receptor 2glucosidase II subunit betahepatocystinprotein kinase C substrate 60.1 kDa protein heavy chainprotein kinase C substrate, 80 Kda protein
Modification date2020032020200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000595722, ENST00000251363, 
ENST00000558331, ENST00000559336, 
ENST00000559450, 
Fusion gene scores* DoF score5 X 3 X 5=7512 X 13 X 7=1092
# samples 515
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(15/1092*10)=-2.86393845042397
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CERS4 [Title/Abstract] AND PRKCSH [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCERS4(8275746)-PRKCSH(11561460), # 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
HgeneCERS4

GO:0046513

ceramide biosynthetic process

17977534|29632068

TgenePRKCSH

GO:0006491

N-glycan processing

10929008



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
ChimerDB4OVTCGA-29-1761CERS4chr19

8275746

+PRKCSHchr19

11561460

+


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Fusion Gene ORF analysis for CERS4-PRKCSH

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
3UTR-3UTRENST00000595722ENST00000252455CERS4chr19

8275746

+PRKCSHchr19

11561460

+
3UTR-3UTRENST00000595722ENST00000412601CERS4chr19

8275746

+PRKCSHchr19

11561460

+
3UTR-3UTRENST00000595722ENST00000587327CERS4chr19

8275746

+PRKCSHchr19

11561460

+
3UTR-3UTRENST00000595722ENST00000589838CERS4chr19

8275746

+PRKCSHchr19

11561460

+
3UTR-3UTRENST00000595722ENST00000591462CERS4chr19

8275746

+PRKCSHchr19

11561460

+
3UTR-3UTRENST00000595722ENST00000591510CERS4chr19

8275746

+PRKCSHchr19

11561460

+
3UTR-3UTRENST00000595722ENST00000592741CERS4chr19

8275746

+PRKCSHchr19

11561460

+
5UTR-3UTRENST00000251363ENST00000252455CERS4chr19

8275746

+PRKCSHchr19

11561460

+
5UTR-3UTRENST00000251363ENST00000412601CERS4chr19

8275746

+PRKCSHchr19

11561460

+
5UTR-3UTRENST00000251363ENST00000587327CERS4chr19

8275746

+PRKCSHchr19

11561460

+
5UTR-3UTRENST00000251363ENST00000589838CERS4chr19

8275746

+PRKCSHchr19

11561460

+
5UTR-3UTRENST00000251363ENST00000591462CERS4chr19

8275746

+PRKCSHchr19

11561460

+
5UTR-3UTRENST00000251363ENST00000591510CERS4chr19

8275746

+PRKCSHchr19

11561460

+
5UTR-3UTRENST00000251363ENST00000592741CERS4chr19

8275746

+PRKCSHchr19

11561460

+
5UTR-3UTRENST00000558331ENST00000252455CERS4chr19

8275746

+PRKCSHchr19

11561460

+
5UTR-3UTRENST00000558331ENST00000412601CERS4chr19

8275746

+PRKCSHchr19

11561460

+
5UTR-3UTRENST00000558331ENST00000587327CERS4chr19

8275746

+PRKCSHchr19

11561460

+
5UTR-3UTRENST00000558331ENST00000589838CERS4chr19

8275746

+PRKCSHchr19

11561460

+
5UTR-3UTRENST00000558331ENST00000591462CERS4chr19

8275746

+PRKCSHchr19

11561460

+
5UTR-3UTRENST00000558331ENST00000591510CERS4chr19

8275746

+PRKCSHchr19

11561460

+
5UTR-3UTRENST00000558331ENST00000592741CERS4chr19

8275746

+PRKCSHchr19

11561460

+
5UTR-3UTRENST00000559336ENST00000252455CERS4chr19

8275746

+PRKCSHchr19

11561460

+
5UTR-3UTRENST00000559336ENST00000412601CERS4chr19

8275746

+PRKCSHchr19

11561460

+
5UTR-3UTRENST00000559336ENST00000587327CERS4chr19

8275746

+PRKCSHchr19

11561460

+
5UTR-3UTRENST00000559336ENST00000589838CERS4chr19

8275746

+PRKCSHchr19

11561460

+
5UTR-3UTRENST00000559336ENST00000591462CERS4chr19

8275746

+PRKCSHchr19

11561460

+
5UTR-3UTRENST00000559336ENST00000591510CERS4chr19

8275746

+PRKCSHchr19

11561460

+
5UTR-3UTRENST00000559336ENST00000592741CERS4chr19

8275746

+PRKCSHchr19

11561460

+
intron-3UTRENST00000559450ENST00000252455CERS4chr19

8275746

+PRKCSHchr19

11561460

+
intron-3UTRENST00000559450ENST00000412601CERS4chr19

8275746

+PRKCSHchr19

11561460

+
intron-3UTRENST00000559450ENST00000587327CERS4chr19

8275746

+PRKCSHchr19

11561460

+
intron-3UTRENST00000559450ENST00000589838CERS4chr19

8275746

+PRKCSHchr19

11561460

+
intron-3UTRENST00000559450ENST00000591462CERS4chr19

8275746

+PRKCSHchr19

11561460

+
intron-3UTRENST00000559450ENST00000591510CERS4chr19

8275746

+PRKCSHchr19

11561460

+
intron-3UTRENST00000559450ENST00000592741CERS4chr19

8275746

+PRKCSHchr19

11561460

+

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 CERS4-PRKCSH


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)
CERS4chr198275746+PRKCSHchr1911561460+0.0011721220.9988279
CERS4chr198275746+PRKCSHchr1911561460+0.0011721220.9988279


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.
genomic feature of top 1%

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Fusion Protein Features for CERS4-PRKCSH


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/:8275746/:11561460)
- 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
..
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: 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 CERS4-PRKCSH


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 CERS4-PRKCSH


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 CERS4-PRKCSH


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 CERS4-PRKCSH


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0158683Polycystic liver disease3CTD_human;ORPHANET
TgeneC0022680Polycystic Kidney Diseases1CTD_human
TgeneC0887850Polycystic Kidney, Type 1 Autosomal Dominant Disease1GENOMICS_ENGLAND
TgeneC1567435Polycystic Kidney - body part1CTD_human