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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:PCM1-ASAH1 (FusionGDB2 ID:63333)

Fusion Gene Summary for PCM1-ASAH1

check button Fusion gene summary
Fusion gene informationFusion gene name: PCM1-ASAH1
Fusion gene ID: 63333
HgeneTgene
Gene symbol

PCM1

ASAH1

Gene ID

5108

427

Gene namepericentriolar material 1N-acylsphingosine amidohydrolase 1
SynonymsPTC4|RET/PCM-1AC|ACDase|ASAH|PHP|PHP32|SMAPME
Cytomap

8p22

8p22

Type of geneprotein-codingprotein-coding
Descriptionpericentriolar material 1 proteinPCM-1hPCM-1pericentriolar material 1, PCM1acid ceramidaseN-acylethanolamine hydrolase ASAH1N-acylsphingosine amidohydrolase (acid ceramidase) 1acid CDaseacylsphingosine deacylaseputative 32 kDa heart protein
Modification date2020032720200313
UniProtAcc.

Q13510

Ensembl transtripts involved in fusion geneENST00000325083, ENST00000327578, 
ENST00000519253, ENST00000518537, 
ENST00000518936, ENST00000524226, 
ENST00000314146, ENST00000417108, 
ENST00000520051, ENST00000520781, 
ENST00000262097, ENST00000381733, 
Fusion gene scores* DoF score16 X 16 X 12=307213 X 10 X 8=1040
# samples 1616
** MAII scorelog2(16/3072*10)=-4.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/1040*10)=-2.70043971814109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PCM1 [Title/Abstract] AND ASAH1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointASAH1(17924728)-PCM1(17872092), # samples:1
ASAH1(17933049)-PCM1(17817523), # samples:1
PCM1(17872349)-ASAH1(17933096), # samples:1
Anticipated loss of major functional domain due to fusion event.ASAH1-PCM1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ASAH1-PCM1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ASAH1-PCM1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
ASAH1-PCM1 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
TgeneASAH1

GO:0046512

sphingosine biosynthetic process

12815059

TgeneASAH1

GO:0046513

ceramide biosynthetic process

12764132|12815059

TgeneASAH1

GO:0046514

ceramide catabolic process

12815059


check buttonFusion gene breakpoints across PCM1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across ASAH1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4OVTCGA-24-2267-01APCM1chr8

17872349

+ASAH1chr8

17933096

-


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Fusion Gene ORF analysis for PCM1-ASAH1

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-5UTRENST00000325083ENST00000314146PCM1chr8

17872349

+ASAH1chr8

17933096

-
5CDS-5UTRENST00000325083ENST00000417108PCM1chr8

17872349

+ASAH1chr8

17933096

-
5CDS-5UTRENST00000325083ENST00000520051PCM1chr8

17872349

+ASAH1chr8

17933096

-
5CDS-5UTRENST00000325083ENST00000520781PCM1chr8

17872349

+ASAH1chr8

17933096

-
5CDS-5UTRENST00000327578ENST00000314146PCM1chr8

17872349

+ASAH1chr8

17933096

-
5CDS-5UTRENST00000327578ENST00000417108PCM1chr8

17872349

+ASAH1chr8

17933096

-
5CDS-5UTRENST00000327578ENST00000520051PCM1chr8

17872349

+ASAH1chr8

17933096

-
5CDS-5UTRENST00000327578ENST00000520781PCM1chr8

17872349

+ASAH1chr8

17933096

-
5CDS-5UTRENST00000519253ENST00000314146PCM1chr8

17872349

+ASAH1chr8

17933096

-
5CDS-5UTRENST00000519253ENST00000417108PCM1chr8

17872349

+ASAH1chr8

17933096

-
5CDS-5UTRENST00000519253ENST00000520051PCM1chr8

17872349

+ASAH1chr8

17933096

-
5CDS-5UTRENST00000519253ENST00000520781PCM1chr8

17872349

+ASAH1chr8

17933096

-
In-frameENST00000325083ENST00000262097PCM1chr8

17872349

+ASAH1chr8

17933096

-
In-frameENST00000325083ENST00000381733PCM1chr8

17872349

+ASAH1chr8

17933096

-
In-frameENST00000327578ENST00000262097PCM1chr8

17872349

+ASAH1chr8

17933096

-
In-frameENST00000327578ENST00000381733PCM1chr8

17872349

+ASAH1chr8

17933096

-
In-frameENST00000519253ENST00000262097PCM1chr8

17872349

+ASAH1chr8

17933096

-
In-frameENST00000519253ENST00000381733PCM1chr8

17872349

+ASAH1chr8

17933096

-
intron-3CDSENST00000518537ENST00000262097PCM1chr8

17872349

+ASAH1chr8

17933096

-
intron-3CDSENST00000518537ENST00000381733PCM1chr8

17872349

+ASAH1chr8

17933096

-
intron-3CDSENST00000518936ENST00000262097PCM1chr8

17872349

+ASAH1chr8

17933096

-
intron-3CDSENST00000518936ENST00000381733PCM1chr8

17872349

+ASAH1chr8

17933096

-
intron-3CDSENST00000524226ENST00000262097PCM1chr8

17872349

+ASAH1chr8

17933096

-
intron-3CDSENST00000524226ENST00000381733PCM1chr8

17872349

+ASAH1chr8

17933096

-
intron-5UTRENST00000518537ENST00000314146PCM1chr8

17872349

+ASAH1chr8

17933096

-
intron-5UTRENST00000518537ENST00000417108PCM1chr8

17872349

+ASAH1chr8

17933096

-
intron-5UTRENST00000518537ENST00000520051PCM1chr8

17872349

+ASAH1chr8

17933096

-
intron-5UTRENST00000518537ENST00000520781PCM1chr8

17872349

+ASAH1chr8

17933096

-
intron-5UTRENST00000518936ENST00000314146PCM1chr8

17872349

+ASAH1chr8

17933096

-
intron-5UTRENST00000518936ENST00000417108PCM1chr8

17872349

+ASAH1chr8

17933096

-
intron-5UTRENST00000518936ENST00000520051PCM1chr8

17872349

+ASAH1chr8

17933096

-
intron-5UTRENST00000518936ENST00000520781PCM1chr8

17872349

+ASAH1chr8

17933096

-
intron-5UTRENST00000524226ENST00000314146PCM1chr8

17872349

+ASAH1chr8

17933096

-
intron-5UTRENST00000524226ENST00000417108PCM1chr8

17872349

+ASAH1chr8

17933096

-
intron-5UTRENST00000524226ENST00000520051PCM1chr8

17872349

+ASAH1chr8

17933096

-
intron-5UTRENST00000524226ENST00000520781PCM1chr8

17872349

+ASAH1chr8

17933096

-

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 PCM1-ASAH1


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.
genomic feature

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 PCM1-ASAH1


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/chr8:17924728/chr8:17872092)
- 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
.ASAH1

Q13510

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: Lysosomal ceramidase that hydrolyzes sphingolipid ceramides into sphingosine and free fatty acids at acidic pH (PubMed:10610716, PubMed:7744740, PubMed:15655246, PubMed:11451951). Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation (PubMed:10610716). Has a higher catalytic efficiency towards C12-ceramides versus other ceramides (PubMed:7744740, PubMed:15655246). Also catalyzes the reverse reaction allowing the synthesis of ceramides from fatty acids and sphingosine (PubMed:12764132, PubMed:12815059). For the reverse synthetic reaction, the natural sphingosine D-erythro isomer is more efficiently utilized as a substrate compared to D-erythro-dihydrosphingosine and D-erythro-phytosphingosine, while the fatty acids with chain lengths of 12 or 14 carbons are the most efficiently used (PubMed:12764132). Has also an N-acylethanolamine hydrolase activity (PubMed:15655246). By regulating the levels of ceramides, sphingosine and sphingosine-1-phosphate in the epidermis, mediates the calcium-induced differentiation of epidermal keratinocytes (PubMed:17713573). Also indirectly regulates tumor necrosis factor/TNF-induced apoptosis (By similarity). By regulating the intracellular balance between ceramides and sphingosine, in adrenocortical cells, probably also acts as a regulator of steroidogenesis (PubMed:22261821). {ECO:0000250|UniProtKB:Q9WV54, ECO:0000269|PubMed:10610716, ECO:0000269|PubMed:11451951, ECO:0000269|PubMed:12764132, ECO:0000269|PubMed:12815059, ECO:0000269|PubMed:15655246, ECO:0000269|PubMed:17713573, ECO:0000269|PubMed:22261821, ECO:0000269|PubMed:7744740, ECO:0000303|PubMed:10610716}.; FUNCTION: [Isoform 2]: May directly regulate steroidogenesis by binding the nuclear receptor NR5A1 and negatively regulating its transcriptional activity. {ECO:0000305|PubMed:22927646}.

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
HgenePCM1chr8:17872349chr8:17933096ENST00000325083+36391063_108919472025.0Coiled coilOntology_term=ECO:0000255
HgenePCM1chr8:17872349chr8:17933096ENST00000325083+36391515_153919472025.0Coiled coilOntology_term=ECO:0000255
HgenePCM1chr8:17872349chr8:17933096ENST00000325083+3639218_30119472025.0Coiled coilOntology_term=ECO:0000255
HgenePCM1chr8:17872349chr8:17933096ENST00000325083+3639400_42419472025.0Coiled coilOntology_term=ECO:0000255
HgenePCM1chr8:17872349chr8:17933096ENST00000325083+3639487_54319472025.0Coiled coilOntology_term=ECO:0000255
HgenePCM1chr8:17872349chr8:17933096ENST00000325083+3639651_68219472025.0Coiled coilOntology_term=ECO:0000255
HgenePCM1chr8:17872349chr8:17933096ENST00000325083+3639726_76919472025.0Coiled coilOntology_term=ECO:0000255
HgenePCM1chr8:17872349chr8:17933096ENST00000325083+3639824_85819472025.0Coiled coilOntology_term=ECO:0000255

- 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 PCM1-ASAH1


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 PCM1-ASAH1


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
HgenePCM1chr8:17872349chr8:17933096ENST00000325083+36391279_17991947.02025.0HAP1


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgenePCM1chr8:17872349chr8:17933096ENST00000325083+36391913_20241947.02025.0BBS4


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 PCM1-ASAH1


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 PCM1-ASAH1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource