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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:ASAH1-PCM1 (FusionGDB2 ID:6943)

Fusion Gene Summary for ASAH1-PCM1

check button Fusion gene summary
Fusion gene informationFusion gene name: ASAH1-PCM1
Fusion gene ID: 6943
HgeneTgene
Gene symbol

ASAH1

PCM1

Gene ID

427

5108

Gene nameN-acylsphingosine amidohydrolase 1pericentriolar material 1
SynonymsAC|ACDase|ASAH|PHP|PHP32|SMAPMEPTC4|RET/PCM-1
Cytomap

8p22

8p22

Type of geneprotein-codingprotein-coding
Descriptionacid ceramidaseN-acylethanolamine hydrolase ASAH1N-acylsphingosine amidohydrolase (acid ceramidase) 1acid CDaseacylsphingosine deacylaseputative 32 kDa heart proteinpericentriolar material 1 proteinPCM-1hPCM-1pericentriolar material 1, PCM1
Modification date2020031320200327
UniProtAcc

Q13510

Q15154

Ensembl transtripts involved in fusion geneENST00000262097, ENST00000314146, 
ENST00000381733, ENST00000417108, 
ENST00000520781, ENST00000520051, 
ENST00000327578, ENST00000518537, 
ENST00000518936, ENST00000524226, 
ENST00000325083, ENST00000519253, 
Fusion gene scores* DoF score15 X 16 X 7=168010 X 14 X 6=840
# samples 1613
** MAII scorelog2(16/1680*10)=-3.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/840*10)=-2.69187770463767
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ASAH1 [Title/Abstract] AND PCM1 [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
HgeneASAH1

GO:0046512

sphingosine biosynthetic process

12815059

HgeneASAH1

GO:0046513

ceramide biosynthetic process

12764132|12815059

HgeneASAH1

GO:0046514

ceramide catabolic process

12815059


check buttonFusion gene breakpoints across ASAH1 (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 PCM1 (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
ChimerDB4STADTCGA-BR-6453ASAH1chr8

17924728

-PCM1chr8

17872092

+
ChiTaRS5.0N/ADB239554ASAH1chr8

17933049

-PCM1chr8

17817523

+


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Fusion Gene ORF analysis for ASAH1-PCM1

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-intronENST00000262097ENST00000327578ASAH1chr8

17924728

-PCM1chr8

17872092

+
5CDS-intronENST00000262097ENST00000327578ASAH1chr8

17933049

-PCM1chr8

17817523

+
5CDS-intronENST00000262097ENST00000518537ASAH1chr8

17924728

-PCM1chr8

17872092

+
5CDS-intronENST00000262097ENST00000518537ASAH1chr8

17933049

-PCM1chr8

17817523

+
5CDS-intronENST00000262097ENST00000518936ASAH1chr8

17924728

-PCM1chr8

17872092

+
5CDS-intronENST00000262097ENST00000518936ASAH1chr8

17933049

-PCM1chr8

17817523

+
5CDS-intronENST00000262097ENST00000524226ASAH1chr8

17924728

-PCM1chr8

17872092

+
5CDS-intronENST00000314146ENST00000327578ASAH1chr8

17924728

-PCM1chr8

17872092

+
5CDS-intronENST00000314146ENST00000327578ASAH1chr8

17933049

-PCM1chr8

17817523

+
5CDS-intronENST00000314146ENST00000518537ASAH1chr8

17924728

-PCM1chr8

17872092

+
5CDS-intronENST00000314146ENST00000518537ASAH1chr8

17933049

-PCM1chr8

17817523

+
5CDS-intronENST00000314146ENST00000518936ASAH1chr8

17924728

-PCM1chr8

17872092

+
5CDS-intronENST00000314146ENST00000518936ASAH1chr8

17933049

-PCM1chr8

17817523

+
5CDS-intronENST00000314146ENST00000524226ASAH1chr8

17924728

-PCM1chr8

17872092

+
5CDS-intronENST00000381733ENST00000327578ASAH1chr8

17924728

-PCM1chr8

17872092

+
5CDS-intronENST00000381733ENST00000327578ASAH1chr8

17933049

-PCM1chr8

17817523

+
5CDS-intronENST00000381733ENST00000518537ASAH1chr8

17924728

-PCM1chr8

17872092

+
5CDS-intronENST00000381733ENST00000518537ASAH1chr8

17933049

-PCM1chr8

17817523

+
5CDS-intronENST00000381733ENST00000518936ASAH1chr8

17924728

-PCM1chr8

17872092

+
5CDS-intronENST00000381733ENST00000518936ASAH1chr8

17933049

-PCM1chr8

17817523

+
5CDS-intronENST00000381733ENST00000524226ASAH1chr8

17924728

-PCM1chr8

17872092

+
5CDS-intronENST00000417108ENST00000327578ASAH1chr8

17924728

-PCM1chr8

17872092

+
5CDS-intronENST00000417108ENST00000518537ASAH1chr8

17924728

-PCM1chr8

17872092

+
5CDS-intronENST00000417108ENST00000518936ASAH1chr8

17924728

-PCM1chr8

17872092

+
5CDS-intronENST00000417108ENST00000524226ASAH1chr8

17924728

-PCM1chr8

17872092

+
5CDS-intronENST00000520781ENST00000327578ASAH1chr8

17924728

-PCM1chr8

17872092

+
5CDS-intronENST00000520781ENST00000327578ASAH1chr8

17933049

-PCM1chr8

17817523

+
5CDS-intronENST00000520781ENST00000518537ASAH1chr8

17924728

-PCM1chr8

17872092

+
5CDS-intronENST00000520781ENST00000518537ASAH1chr8

17933049

-PCM1chr8

17817523

+
5CDS-intronENST00000520781ENST00000518936ASAH1chr8

17924728

-PCM1chr8

17872092

+
5CDS-intronENST00000520781ENST00000518936ASAH1chr8

17933049

-PCM1chr8

17817523

+
5CDS-intronENST00000520781ENST00000524226ASAH1chr8

17924728

-PCM1chr8

17872092

+
5UTR-3CDSENST00000417108ENST00000325083ASAH1chr8

17933049

-PCM1chr8

17817523

+
5UTR-3CDSENST00000417108ENST00000519253ASAH1chr8

17933049

-PCM1chr8

17817523

+
5UTR-3CDSENST00000417108ENST00000524226ASAH1chr8

17933049

-PCM1chr8

17817523

+
5UTR-3CDSENST00000520051ENST00000325083ASAH1chr8

17933049

-PCM1chr8

17817523

+
5UTR-3CDSENST00000520051ENST00000519253ASAH1chr8

17933049

-PCM1chr8

17817523

+
5UTR-3CDSENST00000520051ENST00000524226ASAH1chr8

17933049

-PCM1chr8

17817523

+
5UTR-intronENST00000417108ENST00000327578ASAH1chr8

17933049

-PCM1chr8

17817523

+
5UTR-intronENST00000417108ENST00000518537ASAH1chr8

17933049

-PCM1chr8

17817523

+
5UTR-intronENST00000417108ENST00000518936ASAH1chr8

17933049

-PCM1chr8

17817523

+
5UTR-intronENST00000520051ENST00000327578ASAH1chr8

17933049

-PCM1chr8

17817523

+
5UTR-intronENST00000520051ENST00000518537ASAH1chr8

17933049

-PCM1chr8

17817523

+
5UTR-intronENST00000520051ENST00000518936ASAH1chr8

17933049

-PCM1chr8

17817523

+
Frame-shiftENST00000262097ENST00000325083ASAH1chr8

17933049

-PCM1chr8

17817523

+
Frame-shiftENST00000262097ENST00000519253ASAH1chr8

17933049

-PCM1chr8

17817523

+
Frame-shiftENST00000262097ENST00000524226ASAH1chr8

17933049

-PCM1chr8

17817523

+
Frame-shiftENST00000314146ENST00000325083ASAH1chr8

17933049

-PCM1chr8

17817523

+
Frame-shiftENST00000314146ENST00000519253ASAH1chr8

17933049

-PCM1chr8

17817523

+
Frame-shiftENST00000314146ENST00000524226ASAH1chr8

17933049

-PCM1chr8

17817523

+
Frame-shiftENST00000381733ENST00000325083ASAH1chr8

17933049

-PCM1chr8

17817523

+
Frame-shiftENST00000381733ENST00000519253ASAH1chr8

17933049

-PCM1chr8

17817523

+
Frame-shiftENST00000381733ENST00000524226ASAH1chr8

17933049

-PCM1chr8

17817523

+
Frame-shiftENST00000520781ENST00000325083ASAH1chr8

17933049

-PCM1chr8

17817523

+
Frame-shiftENST00000520781ENST00000519253ASAH1chr8

17933049

-PCM1chr8

17817523

+
Frame-shiftENST00000520781ENST00000524226ASAH1chr8

17933049

-PCM1chr8

17817523

+
In-frameENST00000262097ENST00000325083ASAH1chr8

17924728

-PCM1chr8

17872092

+
In-frameENST00000262097ENST00000519253ASAH1chr8

17924728

-PCM1chr8

17872092

+
In-frameENST00000314146ENST00000325083ASAH1chr8

17924728

-PCM1chr8

17872092

+
In-frameENST00000314146ENST00000519253ASAH1chr8

17924728

-PCM1chr8

17872092

+
In-frameENST00000381733ENST00000325083ASAH1chr8

17924728

-PCM1chr8

17872092

+
In-frameENST00000381733ENST00000519253ASAH1chr8

17924728

-PCM1chr8

17872092

+
In-frameENST00000417108ENST00000325083ASAH1chr8

17924728

-PCM1chr8

17872092

+
In-frameENST00000417108ENST00000519253ASAH1chr8

17924728

-PCM1chr8

17872092

+
In-frameENST00000520781ENST00000325083ASAH1chr8

17924728

-PCM1chr8

17872092

+
In-frameENST00000520781ENST00000519253ASAH1chr8

17924728

-PCM1chr8

17872092

+
intron-3CDSENST00000520051ENST00000325083ASAH1chr8

17924728

-PCM1chr8

17872092

+
intron-3CDSENST00000520051ENST00000519253ASAH1chr8

17924728

-PCM1chr8

17872092

+
intron-intronENST00000520051ENST00000327578ASAH1chr8

17924728

-PCM1chr8

17872092

+
intron-intronENST00000520051ENST00000518537ASAH1chr8

17924728

-PCM1chr8

17872092

+
intron-intronENST00000520051ENST00000518936ASAH1chr8

17924728

-PCM1chr8

17872092

+
intron-intronENST00000520051ENST00000524226ASAH1chr8

17924728

-PCM1chr8

17872092

+

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 ASAH1-PCM1


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)
ASAH1chr817924728-PCM1chr817872092+1.07E-060.9999989
ASAH1chr817933049-PCM1chr817817522+1.60E-081
ASAH1chr817924728-PCM1chr817872092+1.07E-060.9999989
ASAH1chr817933049-PCM1chr817817522+1.60E-081

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.
genomic feature of top 1%

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Fusion Protein Features for ASAH1-PCM1


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

PCM1

Q15154

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}.FUNCTION: Required for centrosome assembly and function (PubMed:12403812, PubMed:15659651, PubMed:16943179). Essential for the correct localization of several centrosomal proteins including CEP250, CETN3, PCNT and NEK2 (PubMed:12403812, PubMed:15659651). Required to anchor microtubules to the centrosome (PubMed:12403812, PubMed:15659651). Also involved in cilium biogenesis by recruiting the BBSome, a ciliary protein complex involved in cilium biogenesis, to the centriolar satellites (PubMed:20551181, PubMed:24121310, PubMed:27979967). {ECO:0000269|PubMed:12403812, ECO:0000269|PubMed:15659651, ECO:0000269|PubMed:16943179, ECO:0000269|PubMed:20551181, ECO:0000269|PubMed:24121310, ECO:0000269|PubMed:27979967}.

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
TgenePCM1chr8:17924728chr8:17872092ENST0000032508334391063_108918612025.0Coiled coilOntology_term=ECO:0000255
TgenePCM1chr8:17924728chr8:17872092ENST0000032508334391515_153918612025.0Coiled coilOntology_term=ECO:0000255
TgenePCM1chr8:17924728chr8:17872092ENST000003250833439218_30118612025.0Coiled coilOntology_term=ECO:0000255
TgenePCM1chr8:17924728chr8:17872092ENST000003250833439400_42418612025.0Coiled coilOntology_term=ECO:0000255
TgenePCM1chr8:17924728chr8:17872092ENST000003250833439487_54318612025.0Coiled coilOntology_term=ECO:0000255
TgenePCM1chr8:17924728chr8:17872092ENST000003250833439651_68218612025.0Coiled coilOntology_term=ECO:0000255
TgenePCM1chr8:17924728chr8:17872092ENST000003250833439726_76918612025.0Coiled coilOntology_term=ECO:0000255
TgenePCM1chr8:17924728chr8:17872092ENST000003250833439824_85818612025.0Coiled coilOntology_term=ECO:0000255


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Fusion Gene Sequence for ASAH1-PCM1


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 ASAH1-PCM1


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
TgenePCM1chr8:17924728chr8:17872092ENST0000032508334391913_20241861.33333333333332025.0BBS4


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
TgenePCM1chr8:17924728chr8:17872092ENST0000032508334391279_17991861.33333333333332025.0HAP1


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 ASAH1-PCM1


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 ASAH1-PCM1


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