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-NARS2 (FusionGDB2 ID:1418)

Fusion Gene Summary for ACER3-NARS2

check button Fusion gene summary
Fusion gene informationFusion gene name: ACER3-NARS2
Fusion gene ID: 1418
HgeneTgene
Gene symbol

ACER3

NARS2

Gene ID

55331

79731

Gene namealkaline ceramidase 3asparaginyl-tRNA synthetase 2, mitochondrial
SynonymsAPHC|PHCA|PLDECODFNB94|SLM5|asnRS
Cytomap

11q13.5

11q14.1

Type of geneprotein-codingprotein-coding
Descriptionalkaline ceramidase 3alkCDase 3alkaline CDase 3alkaline dihydroceramidase SB89alkaline phytoceramidasephytoceramidase, alkalineprobable asparagine--tRNA ligase, mitochondrialasparagine tRNA ligase 2, mitochondrial (putative)asparaginyl-tRNA synthetase 2, mitochondrial (putative)deafness, autosomal recessive 94probable asparaginyl-tRNA synthetase, mitochondrial
Modification date2020032020200313
UniProtAcc

Q9NUN7

Q96I59

Ensembl transtripts involved in fusion geneENST00000532485, ENST00000530182, 
ENST00000526597, ENST00000533873, 
ENST00000538157, ENST00000544113, 
ENST00000281038, ENST00000528850, 
Fusion gene scores* DoF score14 X 7 X 7=68629 X 15 X 11=4785
# samples 1737
** MAII scorelog2(17/686*10)=-2.01267383003511
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(37/4785*10)=-3.69292174885708
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACER3 [Title/Abstract] AND NARS2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACER3(76572123)-NARS2(78180359), # samples:4
Anticipated loss of major functional domain due to fusion event.ACER3-NARS2 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ACER3-NARS2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ACER3-NARS2 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 NARS2 (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
ChimerDB4BRCATCGA-AN-A0G0-01AACER3chr11

76572123

+NARS2chr11

78180359

-
ChimerDB4BRCATCGA-AN-A0G0ACER3chr11

76572123

+NARS2chr11

78180359

-
ChimerDB4BRCATCGA-AN-A0G0ACER3chr11

76572123

+NARS2chr11

78177059

-
ChimerDB4BRCATCGA-AN-A0G0-01AACER3chr11

76572123

+NARS2chr11

78180359

-
ChimerDB4BRCATCGA-AN-A0G0-01AACER3chr11

76572123

+NARS2chr11

78177059

-
ChimerDB4BRCATCGA-AN-A0G0-01AACER3chr11

76572123

-NARS2chr11

78180359

-
ChimerDB4BRCATCGA-AN-A0G0-01AACER3chr11

76572122

+NARS2chr11

78177058

-
ChimerDB4BRCATCGA-AN-A0G0-01AACER3chr11

76572122

+NARS2chr11

78180358

-


Top

Fusion Gene ORF analysis for ACER3-NARS2

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
Frame-shiftENST00000532485ENST00000281038ACER3chr11

76572123

+NARS2chr11

78180359

-
Frame-shiftENST00000532485ENST00000528850ACER3chr11

76572123

+NARS2chr11

78180359

-
3UTR-3CDSENST00000530182ENST00000281038ACER3chr11

76572123

+NARS2chr11

78180359

-
3UTR-3CDSENST00000530182ENST00000528850ACER3chr11

76572123

+NARS2chr11

78180359

-
intron-3CDSENST00000526597ENST00000281038ACER3chr11

76572123

+NARS2chr11

78180359

-
intron-3CDSENST00000526597ENST00000528850ACER3chr11

76572123

+NARS2chr11

78180359

-
Frame-shiftENST00000533873ENST00000281038ACER3chr11

76572123

+NARS2chr11

78180359

-
Frame-shiftENST00000533873ENST00000528850ACER3chr11

76572123

+NARS2chr11

78180359

-
5UTR-3CDSENST00000538157ENST00000281038ACER3chr11

76572123

+NARS2chr11

78180359

-
5UTR-3CDSENST00000538157ENST00000528850ACER3chr11

76572123

+NARS2chr11

78180359

-
intron-3CDSENST00000544113ENST00000281038ACER3chr11

76572123

+NARS2chr11

78180359

-
intron-3CDSENST00000544113ENST00000528850ACER3chr11

76572123

+NARS2chr11

78180359

-
Frame-shiftENST00000532485ENST00000281038ACER3chr11

76572123

+NARS2chr11

78177059

-
Frame-shiftENST00000532485ENST00000528850ACER3chr11

76572123

+NARS2chr11

78177059

-
3UTR-3CDSENST00000530182ENST00000281038ACER3chr11

76572123

+NARS2chr11

78177059

-
3UTR-3CDSENST00000530182ENST00000528850ACER3chr11

76572123

+NARS2chr11

78177059

-
intron-3CDSENST00000526597ENST00000281038ACER3chr11

76572123

+NARS2chr11

78177059

-
intron-3CDSENST00000526597ENST00000528850ACER3chr11

76572123

+NARS2chr11

78177059

-
Frame-shiftENST00000533873ENST00000281038ACER3chr11

76572123

+NARS2chr11

78177059

-
Frame-shiftENST00000533873ENST00000528850ACER3chr11

76572123

+NARS2chr11

78177059

-
5UTR-3CDSENST00000538157ENST00000281038ACER3chr11

76572123

+NARS2chr11

78177059

-
5UTR-3CDSENST00000538157ENST00000528850ACER3chr11

76572123

+NARS2chr11

78177059

-
intron-3CDSENST00000544113ENST00000281038ACER3chr11

76572123

+NARS2chr11

78177059

-
intron-3CDSENST00000544113ENST00000528850ACER3chr11

76572123

+NARS2chr11

78177059

-
Frame-shiftENST00000532485ENST00000281038ACER3chr11

76572122

+NARS2chr11

78177058

-
Frame-shiftENST00000532485ENST00000528850ACER3chr11

76572122

+NARS2chr11

78177058

-
3UTR-3CDSENST00000530182ENST00000281038ACER3chr11

76572122

+NARS2chr11

78177058

-
3UTR-3CDSENST00000530182ENST00000528850ACER3chr11

76572122

+NARS2chr11

78177058

-
intron-3CDSENST00000526597ENST00000281038ACER3chr11

76572122

+NARS2chr11

78177058

-
intron-3CDSENST00000526597ENST00000528850ACER3chr11

76572122

+NARS2chr11

78177058

-
Frame-shiftENST00000533873ENST00000281038ACER3chr11

76572122

+NARS2chr11

78177058

-
Frame-shiftENST00000533873ENST00000528850ACER3chr11

76572122

+NARS2chr11

78177058

-
5UTR-3CDSENST00000538157ENST00000281038ACER3chr11

76572122

+NARS2chr11

78177058

-
5UTR-3CDSENST00000538157ENST00000528850ACER3chr11

76572122

+NARS2chr11

78177058

-
intron-3CDSENST00000544113ENST00000281038ACER3chr11

76572122

+NARS2chr11

78177058

-
intron-3CDSENST00000544113ENST00000528850ACER3chr11

76572122

+NARS2chr11

78177058

-
Frame-shiftENST00000532485ENST00000281038ACER3chr11

76572122

+NARS2chr11

78180358

-
Frame-shiftENST00000532485ENST00000528850ACER3chr11

76572122

+NARS2chr11

78180358

-
3UTR-3CDSENST00000530182ENST00000281038ACER3chr11

76572122

+NARS2chr11

78180358

-
3UTR-3CDSENST00000530182ENST00000528850ACER3chr11

76572122

+NARS2chr11

78180358

-
intron-3CDSENST00000526597ENST00000281038ACER3chr11

76572122

+NARS2chr11

78180358

-
intron-3CDSENST00000526597ENST00000528850ACER3chr11

76572122

+NARS2chr11

78180358

-
Frame-shiftENST00000533873ENST00000281038ACER3chr11

76572122

+NARS2chr11

78180358

-
Frame-shiftENST00000533873ENST00000528850ACER3chr11

76572122

+NARS2chr11

78180358

-
5UTR-3CDSENST00000538157ENST00000281038ACER3chr11

76572122

+NARS2chr11

78180358

-
5UTR-3CDSENST00000538157ENST00000528850ACER3chr11

76572122

+NARS2chr11

78180358

-
intron-3CDSENST00000544113ENST00000281038ACER3chr11

76572122

+NARS2chr11

78180358

-
intron-3CDSENST00000544113ENST00000528850ACER3chr11

76572122

+NARS2chr11

78180358

-

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-NARS2


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-NARS2


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ACER3

Q9NUN7

NARS2

Q96I59

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-NARS2


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-NARS2


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-NARS2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneNARS2Q96I59DB00174AsparagineSmall moleculeApproved|Investigational|Nutraceutical

Top

Related Diseases for ACER3-NARS2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACER3C4540358LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET2ORPHANET;UNIPROT
HgeneACER3C0025202melanoma1CTD_human
TgeneNARS2C4015643COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 243CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneNARS2C0023264Leigh Disease2CLINGEN
TgeneNARS2C1838951LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY2CLINGEN
TgeneNARS2C1850597Leigh Syndrome Due To Mitochondrial Complex II Deficiency2CLINGEN
TgeneNARS2C1850598Leigh Syndrome due to Mitochondrial Complex III Deficiency2CLINGEN
TgeneNARS2C1850599Leigh Syndrome due to Mitochondrial Complex IV Deficiency2CLINGEN
TgeneNARS2C1850600Leigh Syndrome due to Mitochondrial Complex V Deficiency2CLINGEN
TgeneNARS2C2931891Necrotizing encephalopathy, infantile subacute, of Leigh2CLINGEN
TgeneNARS2C0036572Seizures1GENOMICS_ENGLAND
TgeneNARS2C3711374Nonsyndromic Deafness1CLINGEN