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-FCHSD2 (FusionGDB2 ID:1289)

Fusion Gene Summary for ACER3-FCHSD2

check button Fusion gene summary
Fusion gene informationFusion gene name: ACER3-FCHSD2
Fusion gene ID: 1289
HgeneTgene
Gene symbol

ACER3

FCHSD2

Gene ID

55331

9873

Gene namealkaline ceramidase 3FCH and double SH3 domains 2
SynonymsAPHC|PHCA|PLDECONWK|NWK1|SH3MD3
Cytomap

11q13.5

11q13.4

Type of geneprotein-codingprotein-coding
Descriptionalkaline ceramidase 3alkCDase 3alkaline CDase 3alkaline dihydroceramidase SB89alkaline phytoceramidasephytoceramidase, alkalineF-BAR and double SH3 domains protein 2FCH and double SH3 domains protein 2SH3 multiple domains 3SH3 multiple domains protein 3caromnervous wreck homologprotein nervous wreck 1
Modification date2020032020200313
UniProtAcc

Q9NUN7

O94868

Ensembl transtripts involved in fusion geneENST00000530182, ENST00000532485, 
ENST00000533873, ENST00000538157, 
ENST00000526597, ENST00000544113, 
ENST00000311172, ENST00000409314, 
ENST00000409418, ENST00000409853, 
ENST00000458644, ENST00000409263, 
Fusion gene scores* DoF score14 X 7 X 7=68616 X 13 X 8=1664
# samples 1718
** MAII scorelog2(17/686*10)=-2.01267383003511
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(18/1664*10)=-3.20858662181142
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACER3 [Title/Abstract] AND FCHSD2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACER3(76572123)-FCHSD2(72613683), # samples:2
Anticipated loss of major functional domain due to fusion event.ACER3-FCHSD2 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ACER3-FCHSD2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ACER3-FCHSD2 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
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


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 FCHSD2 (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
ChimerDB4ESCATCGA-XP-A8T6ACER3chr11

76572123

+FCHSD2chr11

72613683

-


Top

Fusion Gene ORF analysis for ACER3-FCHSD2

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-3CDSENST00000530182ENST00000311172ACER3chr11

76572123

+FCHSD2chr11

72613683

-
3UTR-3CDSENST00000530182ENST00000409314ACER3chr11

76572123

+FCHSD2chr11

72613683

-
3UTR-3CDSENST00000530182ENST00000409418ACER3chr11

76572123

+FCHSD2chr11

72613683

-
3UTR-3CDSENST00000530182ENST00000409853ACER3chr11

76572123

+FCHSD2chr11

72613683

-
3UTR-3CDSENST00000530182ENST00000458644ACER3chr11

76572123

+FCHSD2chr11

72613683

-
3UTR-intronENST00000530182ENST00000409263ACER3chr11

76572123

+FCHSD2chr11

72613683

-
5CDS-intronENST00000532485ENST00000409263ACER3chr11

76572123

+FCHSD2chr11

72613683

-
5CDS-intronENST00000533873ENST00000409263ACER3chr11

76572123

+FCHSD2chr11

72613683

-
5UTR-3CDSENST00000538157ENST00000311172ACER3chr11

76572123

+FCHSD2chr11

72613683

-
5UTR-3CDSENST00000538157ENST00000409314ACER3chr11

76572123

+FCHSD2chr11

72613683

-
5UTR-3CDSENST00000538157ENST00000409418ACER3chr11

76572123

+FCHSD2chr11

72613683

-
5UTR-3CDSENST00000538157ENST00000409853ACER3chr11

76572123

+FCHSD2chr11

72613683

-
5UTR-3CDSENST00000538157ENST00000458644ACER3chr11

76572123

+FCHSD2chr11

72613683

-
5UTR-intronENST00000538157ENST00000409263ACER3chr11

76572123

+FCHSD2chr11

72613683

-
Frame-shiftENST00000532485ENST00000311172ACER3chr11

76572123

+FCHSD2chr11

72613683

-
Frame-shiftENST00000532485ENST00000409314ACER3chr11

76572123

+FCHSD2chr11

72613683

-
Frame-shiftENST00000532485ENST00000409418ACER3chr11

76572123

+FCHSD2chr11

72613683

-
Frame-shiftENST00000532485ENST00000409853ACER3chr11

76572123

+FCHSD2chr11

72613683

-
Frame-shiftENST00000532485ENST00000458644ACER3chr11

76572123

+FCHSD2chr11

72613683

-
Frame-shiftENST00000533873ENST00000311172ACER3chr11

76572123

+FCHSD2chr11

72613683

-
Frame-shiftENST00000533873ENST00000409314ACER3chr11

76572123

+FCHSD2chr11

72613683

-
Frame-shiftENST00000533873ENST00000409418ACER3chr11

76572123

+FCHSD2chr11

72613683

-
Frame-shiftENST00000533873ENST00000409853ACER3chr11

76572123

+FCHSD2chr11

72613683

-
Frame-shiftENST00000533873ENST00000458644ACER3chr11

76572123

+FCHSD2chr11

72613683

-
intron-3CDSENST00000526597ENST00000311172ACER3chr11

76572123

+FCHSD2chr11

72613683

-
intron-3CDSENST00000526597ENST00000409314ACER3chr11

76572123

+FCHSD2chr11

72613683

-
intron-3CDSENST00000526597ENST00000409418ACER3chr11

76572123

+FCHSD2chr11

72613683

-
intron-3CDSENST00000526597ENST00000409853ACER3chr11

76572123

+FCHSD2chr11

72613683

-
intron-3CDSENST00000526597ENST00000458644ACER3chr11

76572123

+FCHSD2chr11

72613683

-
intron-3CDSENST00000544113ENST00000311172ACER3chr11

76572123

+FCHSD2chr11

72613683

-
intron-3CDSENST00000544113ENST00000409314ACER3chr11

76572123

+FCHSD2chr11

72613683

-
intron-3CDSENST00000544113ENST00000409418ACER3chr11

76572123

+FCHSD2chr11

72613683

-
intron-3CDSENST00000544113ENST00000409853ACER3chr11

76572123

+FCHSD2chr11

72613683

-
intron-3CDSENST00000544113ENST00000458644ACER3chr11

76572123

+FCHSD2chr11

72613683

-
intron-intronENST00000526597ENST00000409263ACER3chr11

76572123

+FCHSD2chr11

72613683

-
intron-intronENST00000544113ENST00000409263ACER3chr11

76572123

+FCHSD2chr11

72613683

-

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-FCHSD2


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-FCHSD2


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/:76572123/:72613683)
- 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

FCHSD2

O94868

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: Adapter protein that plays a role in endocytosis via clathrin-coated pits. Contributes to the internalization of cell surface receptors, such as integrin ITGB1 and transferrin receptor (PubMed:29887380). Promotes endocytosis of EGFR in cancer cells, and thereby contributes to the down-regulation of EGFR signaling (PubMed:30249660). Recruited to clathrin-coated pits during a mid-to-late stage of assembly, where it is required for normal progress from U-shaped intermediate stage pits to terminal, omega-shaped pits (PubMed:29887380). Binds to membranes enriched in phosphatidylinositol 3,4-bisphosphate or phosphatidylinositol 3,4,5-trisphosphate (PubMed:29887380). When bound to membranes, promotes actin polymerization via its interaction with WAS and/or WASL which leads to the activation of the Arp2/3 complex. Does not promote actin polymerisation in the absence of membranes (PubMed:29887380). {ECO:0000269|PubMed:29887380, ECO:0000269|PubMed:30249660}.

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-FCHSD2


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-FCHSD2


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-FCHSD2


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-FCHSD2


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