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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:AARS-ST3GAL2 (FusionGDB2 ID:HG16TG6483)

Fusion Gene Summary for AARS-ST3GAL2

check button Fusion gene summary
Fusion gene informationFusion gene name: AARS-ST3GAL2
Fusion gene ID: hg16tg6483
HgeneTgene
Gene symbol

AARS

ST3GAL2

Gene ID

16

6483

Gene namealanyl-tRNA synthetase 1ST3 beta-galactoside alpha-2,3-sialyltransferase 2
SynonymsAARS|CMT2N|EIEE29Gal-NAc6S|SIAT4B|ST3GALII|ST3GalA.2
Cytomap('AARS')('ST3GAL2')

16q22.1

16q22.1

Type of geneprotein-codingprotein-coding
Descriptionalanine--tRNA ligase, cytoplasmicalaRSalanine tRNA ligase 1, cytoplasmicalanyl-tRNA synthetase, cytoplasmicrenal carcinoma antigen NY-REN-42CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2Gal-beta-1,3-GalNAc-alpha-2,3-sialyltransferaseSIAT4-BST3Gal IIalpha 2,3-ST 2beta-galactoside alpha-2,3-sialyltransferase 2sialyltransferase 4B (beta-galactosidase alpha-2,3-sia
Modification date2020032820200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000261772, ENST00000564359, 
Fusion gene scores* DoF score13 X 16 X 8=16645 X 4 X 5=100
# samples 165
** MAII scorelog2(16/1664*10)=-3.37851162325373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AARS [Title/Abstract] AND ST3GAL2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAARS(70303521)-ST3GAL2(70415765), # samples:3
Anticipated loss of major functional domain due to fusion event.AARS-ST3GAL2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
AARS-ST3GAL2 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
AARS-ST3GAL2 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
HgeneAARS

GO:0006419

alanyl-tRNA aminoacylation

27622773|28493438

TgeneST3GAL2

GO:0006486

protein glycosylation

9266697

TgeneST3GAL2

GO:0009101

glycoprotein biosynthetic process

9266697

TgeneST3GAL2

GO:0009247

glycolipid biosynthetic process

9266697

TgeneST3GAL2

GO:0009312

oligosaccharide biosynthetic process

9266697

TgeneST3GAL2

GO:0030259

lipid glycosylation

9266697

TgeneST3GAL2

GO:0097503

sialylation

9266697

TgeneST3GAL2

GO:1990743

protein sialylation

9266697


check buttonFusion gene breakpoints across AARS (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 ST3GAL2 (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
* 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-BH-A0B9-01AAARSchr16

70303521

-ST3GAL2chr16

70415765

-


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Fusion Gene ORF analysis for AARS-ST3GAL2

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-intronENST00000261772ENST00000566097AARSchr16

70303521

-ST3GAL2chr16

70415765

-
Frame-shiftENST00000261772ENST00000393640AARSchr16

70303521

-ST3GAL2chr16

70415765

-
In-frameENST00000261772ENST00000342907AARSchr16

70303521

-ST3GAL2chr16

70415765

-
intron-3CDSENST00000564359ENST00000342907AARSchr16

70303521

-ST3GAL2chr16

70415765

-
intron-3CDSENST00000564359ENST00000393640AARSchr16

70303521

-ST3GAL2chr16

70415765

-
intron-intronENST00000564359ENST00000566097AARSchr16

70303521

-ST3GAL2chr16

70415765

-

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)
ENST00000261772AARSchr1670303521-ENST00000342907ST3GAL2chr1670415765-35341106871109340

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
ENST00000261772ENST00000342907AARSchr1670303521-ST3GAL2chr1670415765-0.0023978120.99760216

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Fusion Genomic Features for AARS-ST3GAL2


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.
genomic feature

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Fusion Protein Features for AARS-ST3GAL2


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/chr16:70303521/chr16:70415765)
- 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
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
HgeneAARSchr16:70303521chr16:70415765ENST00000261772-721214_216320969.0Nucleotide bindingATP

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneST3GAL2chr16:70303521chr16:70415765ENST00000342907571_6293351.0Topological domainCytoplasmic
TgeneST3GAL2chr16:70303521chr16:70415765ENST000003429075728_350293351.0Topological domainLumenal
TgeneST3GAL2chr16:70303521chr16:70415765ENST00000393640461_6293351.0Topological domainCytoplasmic
TgeneST3GAL2chr16:70303521chr16:70415765ENST000003936404628_350293351.0Topological domainLumenal
TgeneST3GAL2chr16:70303521chr16:70415765ENST00000342907577_27293351.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneST3GAL2chr16:70303521chr16:70415765ENST00000393640467_27293351.0TransmembraneHelical%3B Signal-anchor for type II membrane protein


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Fusion Gene Sequence for AARS-ST3GAL2


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.
>106_106_1_AARS-ST3GAL2_AARS_chr16_70303521_ENST00000261772_ST3GAL2_chr16_70415765_ENST00000342907_length(transcript)=3534nt_BP=1106nt
CGTGGCGGGTTGTGGTAGGTCGTGGTCTGAGGCCGGTACAGCTGCGCGTCTGCGGGAATAGGTGCAGCGGGCCCTTGGCGGGGGACTCTG
AGGGAGGAGCTGGGGACGGCGACCCTAGGAGAGTTCTTTGGGGTGACTTTCAAGATGGACTCTACTCTAACAGCAAGTGAAATCCGGCAG
CGATTTATAGATTTCTTCAAGAGGAACGAGCATACGTATGTTCACTCGTCTGCCACCATCCCATTGGATGACCCCACTTTGCTCTTTGCC
AATGCAGGCATGAACCAGTTTAAACCCATTTTCCTGAACACAATTGACCCATCTCACCCCATGGCAAAGCTGAGCAGAGCTGCCAATACC
CAGAAGTGCATCCGGGCTGGGGGCAAACATAATGACCTGGACGATGTGGGCAAGGATGTCTATCATCACACCTTCTTCGAGATGCTGGGC
TCTTGGTCTTTTGGAGATTACTTTAAGGAATTGGCATGTAAGATGGCTCTGGAACTCCTCACCCAAGAGTTTGGCATTCCCATTGAAAGA
CTTTATGTTACTTACTTTGGCGGGGATGAAGCAGCTGGCTTAGAAGCAGATCTGGAATGCAAACAGATCTGGCAAAATTTGGGGCTGGAT
GACACCAAAATCCTCCCAGGCAACATGAAGGATAACTTCTGGGAGATGGGTGACACGGGCCCCTGTGGTCCTTGCAGTGAGATCCACTAC
GACCGGATTGGTGGTCGGGACGCCGCACATCTTGTCAACCAGGACGACCCTAATGTGCTGGAGATCTGGAACCTTGTGTTCATCCAGTAT
AACAGGGAAGCTGATGGCATTCTGAAACCTCTTCCCAAGAAAAGCATTGACACAGGGATGGGCCTGGAACGACTGGTATCTGTGCTGCAG
AATAAGATGTCCAACTATGACACTGACCTTTTTGTCCCTTACTTTGAAGCCATTCAGAAGGGCACAGGTGCCCGACCATACACTGGGAAA
GTTGGTGCTGAGGATGCCGATGGGATTGACATGGCCTACCGGGTGCTGGCTGACCACGCTCGGACCATCACTGTGGCACTGGCTGATGGT
GGCCGGCCTGACAACACAGGGCGTGGGTGAACGTGTACGGGTTCGGGGCCGACAGCCGGGGCAACTGGCACCACTACTGGGAGAACAACC
GGTACGCGGGCGAGTTCCGGAAGACTGGCGTGCACGACGCGGACTTCGAGGCCCACATCATCGACATGCTGGCCAAGGCCAGCAAGATCG
AAGTCTACCGGGGCAACTGAGCCGGGCCTCGCCGCGACCCTTCCGGCCCATCTATCGGGCACCGGGGCTCCGGCCCGGGACCCAGGACCA
GCAACCCGCGACCAATCATGCTGCAGCCCAGGGGCGTCTGCTGTGCCCCGCCAATCACGAGACTGGGGGACCGGCCGGGCCTGGCACCAA
TCTGCGCTGCGGTCGGGCGGAGCTTCTGTTTCTCCCAGCCAATCATGTGACTCAAGGAAAACTTCCGGCGCTGTGTCCAGTCTCCTCCAA
TCAATGGCCTTCGGGGGCGGGCCAGCGGCCGCTCAATCCCCACTCCCTCATGCTTTGGGTTAGGGTTTTCTTTCACGCTTTCTGAGGAGG
AGAGCATGGCGCGGGCCTCGGCGAAGCACTTCCGTCAGCCTCGGGCGGAGGATCGTCTTAGTAGCTGGCCAGACCTGGAGGAGAGCGGGC
GGTCTTTGCGGGCCTCAGGAGATAGGTGGCCGCCCGGCCCCTTTCCCCGCCTGCCCGGATAGGTGCGTGCAGACCCACCAAAGAAAAGCG
GTCGCTGCGGGACCCCCAGTCCCACCTCGGCCGCGCTGTGGGATGGCTGCGCCCCCAGGGCTTCCTGCGTCTCCAGGAAGCCGGGAGTGG
CGCCCTCTGCGGGGTGGGGTGCTCCCGGGCCGAACTCCGGACAGGTGGAGGGGACAGGGCAGAGCTCGAGGAAGCCCTGTCCCCTTCAGT
GCAAGGTGCTGTCACTCACGTGTGCCCTCGACCCTCCCGTTCACCCGCAGCCTTCTCAGCGCCTCTCCCTGGGCCGGAGGCCTCCTCACC
AGCCTACCTGTTGCTCTGGAAAAAAATCCCGTCCCCCGACTCCGTCCCTACCCCCAGTCTTCGGCCGGCTCTGGCCCCTGGGGAGGGGGC
TGCACGGCGGAAGGAGGCTGGCTATGGGCCCGGCTGCCCGCTGCATGTACCTCCTCCTCCACCCATCGCCTCTTGCCTGGGGGTAACTTT
GCCTGGGGCTCATTCTTTGGTTAAGCTGAAGCTGCCGTGGGTGGCCAAACCGCAGATTCTTTGCAAATTCTGAGCTGGCAGAGCTCGCAG
CCGGGAGCCGGCCGGGGAAGAGGAGACTTGCGCGCCGCAAGCCGCCTGCCTCCACCCTGCTCTCCATCTCCCGCTCTAGAAGGGCTGGGA
AGCTCGCGGCCGGGGTTCCACCTGGAAGCTGCTTGCATGGCTGAACCCAGCTTAGGTCCCTGACGGGGCTGCTGGTGGAATTCTCCCCCT
TCGAAGCTGGGGAGGTTTAGGAGGGGGAAGGCTTCTGTGAAGCTCTCAAACCACTAATAGAGCCCCCTCCCCAACAGTGACGGCGCAGAT
GCTCCCCCTTTTCTTAGTTGACACCACCAGGCAGCTTCCTGGCCGTTGGTAGGTTCCTGCAGCTGGCTGAGGGAACAGGGACCGGCAGGG
GACTTTGTTAGGGGAGGGTTGGGATGGGCAGTGGGCCCCTGAAAGTTAATATATTGGAACCTAGCTCGAGTGTCGTTCTTTCCAATTCCG
AAAGTAGAAAGAGTAAAAATAGGGGTGATTGGGGTGGGGTTAGTAGAATGCCTCTCTCAGGGCGCTCCCCCCTCCCCCACCGTTTTAGAG
AGCTAGGCCTCAGCCAGTCTTGCCACTCCCATCTCAGTGCTTCCTGAAGAGGCTGTTTTGAGTGTTGATGAAAAGCAATGCAATTATGCC
AAACAGTATTGAGCAGAATAATTTATTTCTTTTTTTTCTTTTGCTTTAAATCATGAATCCCGCCAGGTACGGTGGCTCACACCTGTCATC
CCAGCACTTTGGGAGGCCAAGGCGGGCGGATTACTTAATACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTCGT
CTCTACCAAAAAAAAAAAAAAATACAAAAATTAGCCAGGCGCAGTGGTGCGCACCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAG
AATCCCTTGAACCGAGGAGGCGAAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGTCTCA
AAAAAATTAAATCATGAATCCCCATCCTGGAAGAGGTAGGTCCCAGCATCCAGCCAGATTTTCTGCAATAGTAATTTAAACACACTTTTT
TATTTCCTTCCCTTTCTGAATTAAAAGGAACAAAAAACTGTCTAGTCCTTCATTGTTCTGAAATGGGCATGATGGAAGAAGGCGGGTCTG

>106_106_1_AARS-ST3GAL2_AARS_chr16_70303521_ENST00000261772_ST3GAL2_chr16_70415765_ENST00000342907_length(amino acids)=340AA_BP=
MREELGTATLGEFFGVTFKMDSTLTASEIRQRFIDFFKRNEHTYVHSSATIPLDDPTLLFANAGMNQFKPIFLNTIDPSHPMAKLSRAAN
TQKCIRAGGKHNDLDDVGKDVYHHTFFEMLGSWSFGDYFKELACKMALELLTQEFGIPIERLYVTYFGGDEAAGLEADLECKQIWQNLGL
DDTKILPGNMKDNFWEMGDTGPCGPCSEIHYDRIGGRDAAHLVNQDDPNVLEIWNLVFIQYNREADGILKPLPKKSIDTGMGLERLVSVL

--------------------------------------------------------------

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Fusion Gene PPI Analysis for AARS-ST3GAL2


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


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Related Drugs for AARS-ST3GAL2


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 AARS-ST3GAL2


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