FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:ACER3-ACER3 (FusionGDB2 ID:1286)

Fusion Gene Summary for ACER3-ACER3

check button Fusion gene summary
Fusion gene informationFusion gene name: ACER3-ACER3
Fusion gene ID: 1286
HgeneTgene
Gene symbol

ACER3

ACER3

Gene ID

55331

55331

Gene namealkaline ceramidase 3alkaline ceramidase 3
SynonymsAPHC|PHCA|PLDECOAPHC|PHCA|PLDECO
Cytomap

11q13.5

11q13.5

Type of geneprotein-codingprotein-coding
Descriptionalkaline ceramidase 3alkCDase 3alkaline CDase 3alkaline dihydroceramidase SB89alkaline phytoceramidasephytoceramidase, alkalinealkaline ceramidase 3alkCDase 3alkaline CDase 3alkaline dihydroceramidase SB89alkaline phytoceramidasephytoceramidase, alkaline
Modification date2020032020200320
UniProtAcc

Q9NUN7

Q9NUN7

Ensembl transtripts involved in fusion geneENST00000526597, ENST00000532485, 
ENST00000533873, ENST00000538157, 
ENST00000544113, ENST00000530182, 
ENST00000526597, ENST00000532485, 
ENST00000538157, ENST00000544113, 
ENST00000530182, ENST00000533873, 
Fusion gene scores* DoF score14 X 7 X 7=68613 X 10 X 5=650
# samples 1715
** MAII scorelog2(17/686*10)=-2.01267383003511
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(15/650*10)=-2.11547721741994
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACER3 [Title/Abstract] AND ACER3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACER3(76731441)-ACER3(76731706), # 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
HgeneACER3

GO:0043067

regulation of programmed cell death

20068046

HgeneACER3

GO:0046512

sphingosine biosynthetic process

20068046

HgeneACER3

GO:0046514

ceramide catabolic process

30575723

HgeneACER3

GO:0071602

phytosphingosine biosynthetic process

11356846|20068046

TgeneACER3

GO:0043067

regulation of programmed cell death

20068046

TgeneACER3

GO:0046512

sphingosine biosynthetic process

20068046

TgeneACER3

GO:0046514

ceramide catabolic process

30575723

TgeneACER3

GO:0071602

phytosphingosine biosynthetic process

11356846|20068046


check buttonFusion gene breakpoints across ACER3 (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 ACER3 (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
ChiTaRS5.0N/AAA113041ACER3chr11

76731441

-ACER3chr11

76731706

+


Top

Fusion Gene ORF analysis for ACER3-ACER3

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-3UTRENST00000526597ENST00000526597ACER3chr11

76731441

-ACER3chr11

76731706

+
3UTR-3UTRENST00000526597ENST00000532485ACER3chr11

76731441

-ACER3chr11

76731706

+
3UTR-3UTRENST00000526597ENST00000538157ACER3chr11

76731441

-ACER3chr11

76731706

+
3UTR-3UTRENST00000526597ENST00000544113ACER3chr11

76731441

-ACER3chr11

76731706

+
3UTR-3UTRENST00000532485ENST00000526597ACER3chr11

76731441

-ACER3chr11

76731706

+
3UTR-3UTRENST00000532485ENST00000532485ACER3chr11

76731441

-ACER3chr11

76731706

+
3UTR-3UTRENST00000532485ENST00000538157ACER3chr11

76731441

-ACER3chr11

76731706

+
3UTR-3UTRENST00000532485ENST00000544113ACER3chr11

76731441

-ACER3chr11

76731706

+
3UTR-3UTRENST00000533873ENST00000526597ACER3chr11

76731441

-ACER3chr11

76731706

+
3UTR-3UTRENST00000533873ENST00000532485ACER3chr11

76731441

-ACER3chr11

76731706

+
3UTR-3UTRENST00000533873ENST00000538157ACER3chr11

76731441

-ACER3chr11

76731706

+
3UTR-3UTRENST00000533873ENST00000544113ACER3chr11

76731441

-ACER3chr11

76731706

+
3UTR-3UTRENST00000538157ENST00000526597ACER3chr11

76731441

-ACER3chr11

76731706

+
3UTR-3UTRENST00000538157ENST00000532485ACER3chr11

76731441

-ACER3chr11

76731706

+
3UTR-3UTRENST00000538157ENST00000538157ACER3chr11

76731441

-ACER3chr11

76731706

+
3UTR-3UTRENST00000538157ENST00000544113ACER3chr11

76731441

-ACER3chr11

76731706

+
3UTR-3UTRENST00000544113ENST00000526597ACER3chr11

76731441

-ACER3chr11

76731706

+
3UTR-3UTRENST00000544113ENST00000532485ACER3chr11

76731441

-ACER3chr11

76731706

+
3UTR-3UTRENST00000544113ENST00000538157ACER3chr11

76731441

-ACER3chr11

76731706

+
3UTR-3UTRENST00000544113ENST00000544113ACER3chr11

76731441

-ACER3chr11

76731706

+
3UTR-intronENST00000526597ENST00000530182ACER3chr11

76731441

-ACER3chr11

76731706

+
3UTR-intronENST00000526597ENST00000533873ACER3chr11

76731441

-ACER3chr11

76731706

+
3UTR-intronENST00000532485ENST00000530182ACER3chr11

76731441

-ACER3chr11

76731706

+
3UTR-intronENST00000532485ENST00000533873ACER3chr11

76731441

-ACER3chr11

76731706

+
3UTR-intronENST00000533873ENST00000530182ACER3chr11

76731441

-ACER3chr11

76731706

+
3UTR-intronENST00000533873ENST00000533873ACER3chr11

76731441

-ACER3chr11

76731706

+
3UTR-intronENST00000538157ENST00000530182ACER3chr11

76731441

-ACER3chr11

76731706

+
3UTR-intronENST00000538157ENST00000533873ACER3chr11

76731441

-ACER3chr11

76731706

+
3UTR-intronENST00000544113ENST00000530182ACER3chr11

76731441

-ACER3chr11

76731706

+
3UTR-intronENST00000544113ENST00000533873ACER3chr11

76731441

-ACER3chr11

76731706

+
intron-3UTRENST00000530182ENST00000526597ACER3chr11

76731441

-ACER3chr11

76731706

+
intron-3UTRENST00000530182ENST00000532485ACER3chr11

76731441

-ACER3chr11

76731706

+
intron-3UTRENST00000530182ENST00000538157ACER3chr11

76731441

-ACER3chr11

76731706

+
intron-3UTRENST00000530182ENST00000544113ACER3chr11

76731441

-ACER3chr11

76731706

+
intron-intronENST00000530182ENST00000530182ACER3chr11

76731441

-ACER3chr11

76731706

+
intron-intronENST00000530182ENST00000533873ACER3chr11

76731441

-ACER3chr11

76731706

+

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

Top

Fusion Genomic Features for ACER3-ACER3


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.

Top

Fusion Protein Features for ACER3-ACER3


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/:76731441/:76731706)
- 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
ACER3

Q9NUN7

ACER3

Q9NUN7

FUNCTION: Endoplasmic reticulum and Golgi ceramidase that catalyzes the hydrolysis of unsaturated long-chain C18:1-, C20:1- and C20:4-ceramides, dihydroceramides and phytoceramides into sphingoid bases like sphingosine and free fatty acids at alkaline pH (PubMed:20068046, PubMed:26792856, PubMed:20207939, PubMed:11356846, PubMed:30575723). 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:20068046). Controls the generation of sphingosine in erythrocytes, and thereby sphingosine-1-phosphate in plasma (PubMed:20207939). Through the regulation of ceramides and sphingosine-1-phosphate homeostasis in the brain may play a role in neurons survival and function (By similarity). By regulating the levels of proinflammatory ceramides in immune cells and tissues, may modulate the inflammatory response (By similarity). {ECO:0000250|UniProtKB:Q9D099, ECO:0000269|PubMed:11356846, ECO:0000269|PubMed:20068046, ECO:0000269|PubMed:20207939, ECO:0000269|PubMed:26792856, ECO:0000269|PubMed:30575723, ECO:0000303|PubMed:20068046}.FUNCTION: Endoplasmic reticulum and Golgi ceramidase that catalyzes the hydrolysis of unsaturated long-chain C18:1-, C20:1- and C20:4-ceramides, dihydroceramides and phytoceramides into sphingoid bases like sphingosine and free fatty acids at alkaline pH (PubMed:20068046, PubMed:26792856, PubMed:20207939, PubMed:11356846, PubMed:30575723). 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:20068046). Controls the generation of sphingosine in erythrocytes, and thereby sphingosine-1-phosphate in plasma (PubMed:20207939). Through the regulation of ceramides and sphingosine-1-phosphate homeostasis in the brain may play a role in neurons survival and function (By similarity). By regulating the levels of proinflammatory ceramides in immune cells and tissues, may modulate the inflammatory response (By similarity). {ECO:0000250|UniProtKB:Q9D099, ECO:0000269|PubMed:11356846, ECO:0000269|PubMed:20068046, ECO:0000269|PubMed:20207939, ECO:0000269|PubMed:26792856, ECO:0000269|PubMed:30575723, ECO:0000303|PubMed:20068046}.

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


Top

Fusion Gene Sequence for ACER3-ACER3


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.

Top

Fusion Gene PPI Analysis for ACER3-ACER3


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


Top

Related Drugs for ACER3-ACER3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for ACER3-ACER3


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