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:AARS2-SPATS1 (FusionGDB2 ID:230)

Fusion Gene Summary for AARS2-SPATS1

check button Fusion gene summary
Fusion gene informationFusion gene name: AARS2-SPATS1
Fusion gene ID: 230
HgeneTgene
Gene symbol

AARS2

SPATS1

Gene ID

57505

221409

Gene namealanyl-tRNA synthetase 2, mitochondrialspermatogenesis associated serine rich 1
SynonymsAARSL|COXPD8|LKENP|MT-ALARS|MTALARSDDIP|SPATA8|SRSP1
Cytomap

6p21.1

6p21.1

Type of geneprotein-codingprotein-coding
Descriptionalanine--tRNA ligase, mitochondrialalanine tRNA ligase 2, mitochondrial (putative)alanyl-tRNA synthetase 2, mitochondrial (putative)alanyl-tRNA synthetase likeprobable alanyl-tRNA synthetase, mitochondrialspermatogenesis-associated serine-rich protein 1
Modification date2020031320200313
UniProtAcc

Q5JTZ9

.
Ensembl transtripts involved in fusion geneENST00000244571, ENST00000491573, 
ENST00000323108, ENST00000288390, 
Fusion gene scores* DoF score5 X 8 X 2=803 X 4 X 3=36
# samples 64
** MAII scorelog2(6/80*10)=-0.415037499278844
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: AARS2 [Title/Abstract] AND SPATS1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAARS2(44278731)-SPATS1(44328183), # samples:3
Anticipated loss of major functional domain due to fusion event.AARS2-SPATS1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
AARS2-SPATS1 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

check buttonFusion gene breakpoints across AARS2 (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 SPATS1 (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
ChimerDB4ACCTCGA-OR-A5J8-01AAARS2chr6

44278731

-SPATS1chr6

44328183

+
ChimerDB4ACCTCGA-OR-A5J8AARS2chr6

44278730

-SPATS1chr6

44328182

+
ChimerDB4ACCTCGA-OR-A5J8AARS2chr6

44278035

-SPATS1chr6

44328182

+
ChimerDB4ACCTCGA-OR-A5J8-01AAARS2chr6

44278731

-SPATS1chr6

44328183

+
ChimerDB4ACCTCGA-OR-A5J8-01AAARS2chr6

44278036

-SPATS1chr6

44328183

+
ChimerDB4ACCTCGA-OR-A5J8-01AAARS2chr6

44278731

-SPATS1chr6

44328183

+
ChimerDB4ACCTCGA-OR-A5J8-01AAARS2chr6

44278730

-SPATS1chr6

44328182

+


Top

Fusion Gene ORF analysis for AARS2-SPATS1

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
In-frameENST00000244571ENST00000323108AARS2chr6

44278731

-SPATS1chr6

44328183

+
In-frameENST00000244571ENST00000288390AARS2chr6

44278731

-SPATS1chr6

44328183

+
intron-3CDSENST00000491573ENST00000323108AARS2chr6

44278731

-SPATS1chr6

44328183

+
intron-3CDSENST00000491573ENST00000288390AARS2chr6

44278731

-SPATS1chr6

44328183

+
In-frameENST00000244571ENST00000323108AARS2chr6

44278730

-SPATS1chr6

44328182

+
In-frameENST00000244571ENST00000288390AARS2chr6

44278730

-SPATS1chr6

44328182

+
intron-3CDSENST00000491573ENST00000323108AARS2chr6

44278730

-SPATS1chr6

44328182

+
intron-3CDSENST00000491573ENST00000288390AARS2chr6

44278730

-SPATS1chr6

44328182

+
Frame-shiftENST00000244571ENST00000323108AARS2chr6

44278035

-SPATS1chr6

44328182

+
Frame-shiftENST00000244571ENST00000288390AARS2chr6

44278035

-SPATS1chr6

44328182

+
intron-3CDSENST00000491573ENST00000323108AARS2chr6

44278035

-SPATS1chr6

44328182

+
intron-3CDSENST00000491573ENST00000288390AARS2chr6

44278035

-SPATS1chr6

44328182

+
Frame-shiftENST00000244571ENST00000323108AARS2chr6

44278036

-SPATS1chr6

44328183

+
Frame-shiftENST00000244571ENST00000288390AARS2chr6

44278036

-SPATS1chr6

44328183

+
intron-3CDSENST00000491573ENST00000323108AARS2chr6

44278036

-SPATS1chr6

44328183

+
intron-3CDSENST00000491573ENST00000288390AARS2chr6

44278036

-SPATS1chr6

44328183

+

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 AARS2-SPATS1


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)
AARS2chr644278730-SPATS1chr644328182+0.918620770.08137925
AARS2chr644278730-SPATS1chr644328182+0.918620770.08137925
AARS2chr644278035-SPATS1chr644328182+0.0002359740.999764
AARS2chr644278035-SPATS1chr644328182+0.0002359740.999764
AARS2chr644278730-SPATS1chr644328182+0.918620770.08137925
AARS2chr644278730-SPATS1chr644328182+0.918620770.08137925
AARS2chr644278035-SPATS1chr644328182+0.0002359740.999764
AARS2chr644278035-SPATS1chr644328182+0.0002359740.999764

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 AARS2-SPATS1


check button Go to

FGviewer for the breakpoints of chr6:44278731-chr6:44328183

.
- 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
AARS2

Q5JTZ9

.
FUNCTION: Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain. {ECO:0000255|HAMAP-Rule:MF_03133}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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
HgeneAARS2chr6:44278730chr6:44328182ENST00000244571-422240_242249.66666666666666986.0Nucleotide bindingATP
HgeneAARS2chr6:44278731chr6:44328183ENST00000244571-422240_242249.66666666666666986.0Nucleotide bindingATP

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneSPATS1chr6:44278730chr6:44328182ENST000002883901869_7595.66666666666667301.0Compositional biasNote=Poly-Ser
TgeneSPATS1chr6:44278730chr6:44328182ENST000003231082969_7595.66666666666667301.0Compositional biasNote=Poly-Ser
TgeneSPATS1chr6:44278731chr6:44328183ENST000002883901869_7595.66666666666667301.0Compositional biasNote=Poly-Ser
TgeneSPATS1chr6:44278731chr6:44328183ENST000003231082969_7595.66666666666667301.0Compositional biasNote=Poly-Ser


Top

Fusion Gene Sequence for AARS2-SPATS1


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 AARS2-SPATS1


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 AARS2-SPATS1


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 AARS2-SPATS1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAARS2C3279793COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 83CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneAARS2C4014588LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE2CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneAARS2C1847967OVARIOLEUKODYSTROPHY1ORPHANET
HgeneAARS2C3711381Hereditary Diffuse Leukoencephalopathy with Spheroids1ORPHANET
HgeneAARS2C4540031Combined oxidative phosphorylation deficiency1GENOMICS_ENGLAND