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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:ATXN1-ARG1 (FusionGDB2 ID:8382)

Fusion Gene Summary for ATXN1-ARG1

check button Fusion gene summary
Fusion gene informationFusion gene name: ATXN1-ARG1
Fusion gene ID: 8382
HgeneTgene
Gene symbol

ATXN1

ARG1

Gene ID

6310

64129

Gene nameataxin 1tubulointerstitial nephritis antigen like 1
SynonymsATX1|D6S504E|SCA1ARG1|LCN7|LIECG3|TINAGRP
Cytomap

6p22.3

1p35.2

Type of geneprotein-codingprotein-coding
Descriptionataxin-1alternative ataxin1spinocerebellar ataxia type 1 proteintubulointerstitial nephritis antigen-likeOLRG-2P3ECSLTIN Ag-related proteinTIN-Ag-RPTINAG-like 1androgen-regulated gene 1glucocorticoid-inducible protein 5lipocalin 7oxidized-LDL responsive gene 2tubulointerstitial nephritis antigen-related prot
Modification date2020031320200313
UniProtAcc

P54253

P05089

Ensembl transtripts involved in fusion geneENST00000244769, ENST00000436367, 
ENST00000467008, 		ENST00000356962, 
ENST00000368087, ENST00000498260, 
Fusion gene scores* DoF score28 X 20 X 12=67202 X 3 X 2=12
# samples 332
** MAII scorelog2(33/6720*10)=-4.34792330342031
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/12*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ATXN1 [Title/Abstract] AND ARG1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATXN1(16658007)-ARG1(131897803), # samples:2
ATXN1(16658007)-ARG1(131900251), # samples:2
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
HgeneATXN1

GO:0045892

negative regulation of transcription, DNA-templated

15016912

HgeneATXN1

GO:0051168

nuclear export

15615787

TgeneARG1

GO:0006508

proteolysis

11170462


check buttonFusion gene breakpoints across ATXN1 (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 ARG1 (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
ChimerDB4LUADTCGA-55-6978-01AATXN1chr6

16658007

-ARG1chr6

131897803

+
ChimerDB4LUADTCGA-55-6978-01AATXN1chr6

16658007

-ARG1chr6

131900251

+


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Fusion Gene ORF analysis for ATXN1-ARG1

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
5UTR-3CDSENST00000244769ENST00000356962ATXN1chr6

16658007

-ARG1chr6

131897803

+
5UTR-3CDSENST00000244769ENST00000356962ATXN1chr6

16658007

-ARG1chr6

131900251

+
5UTR-3CDSENST00000244769ENST00000368087ATXN1chr6

16658007

-ARG1chr6

131897803

+
5UTR-3CDSENST00000244769ENST00000368087ATXN1chr6

16658007

-ARG1chr6

131900251

+
5UTR-3CDSENST00000436367ENST00000356962ATXN1chr6

16658007

-ARG1chr6

131897803

+
5UTR-3CDSENST00000436367ENST00000356962ATXN1chr6

16658007

-ARG1chr6

131900251

+
5UTR-3CDSENST00000436367ENST00000368087ATXN1chr6

16658007

-ARG1chr6

131897803

+
5UTR-3CDSENST00000436367ENST00000368087ATXN1chr6

16658007

-ARG1chr6

131900251

+
5UTR-3UTRENST00000244769ENST00000498260ATXN1chr6

16658007

-ARG1chr6

131897803

+
5UTR-3UTRENST00000244769ENST00000498260ATXN1chr6

16658007

-ARG1chr6

131900251

+
5UTR-3UTRENST00000436367ENST00000498260ATXN1chr6

16658007

-ARG1chr6

131897803

+
5UTR-3UTRENST00000436367ENST00000498260ATXN1chr6

16658007

-ARG1chr6

131900251

+
intron-3CDSENST00000467008ENST00000356962ATXN1chr6

16658007

-ARG1chr6

131897803

+
intron-3CDSENST00000467008ENST00000356962ATXN1chr6

16658007

-ARG1chr6

131900251

+
intron-3CDSENST00000467008ENST00000368087ATXN1chr6

16658007

-ARG1chr6

131897803

+
intron-3CDSENST00000467008ENST00000368087ATXN1chr6

16658007

-ARG1chr6

131900251

+
intron-3UTRENST00000467008ENST00000498260ATXN1chr6

16658007

-ARG1chr6

131897803

+
intron-3UTRENST00000467008ENST00000498260ATXN1chr6

16658007

-ARG1chr6

131900251

+

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

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Fusion Genomic Features for ATXN1-ARG1


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)
ATXN1chr616658006-ARG1chr6131900250+0.0001796710.9998204
ATXN1chr616658006-ARG1chr6131897802+2.55E-050.9999745
ATXN1chr616658006-ARG1chr6131900250+0.0001796710.9998204
ATXN1chr616658006-ARG1chr6131897802+2.55E-050.9999745

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.
genomic feature of top 1%

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Fusion Protein Features for ATXN1-ARG1


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/:16658007/:131897803)
- 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
ATXN1

P54253

ARG1

P05089

FUNCTION: Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism (PubMed:21475249). In concert with CIC and ATXN1L, involved in brain development (By similarity). {ECO:0000250|UniProtKB:P54254, ECO:0000269|PubMed:21475249}.FUNCTION: Key element of the urea cycle converting L-arginine to urea and L-ornithine, which is further metabolized into metabolites proline and polyamides that drive collagen synthesis and bioenergetic pathways critical for cell proliferation, respectively; the urea cycle takes place primarily in the liver and, to a lesser extent, in the kidneys. {ECO:0000305}.; FUNCTION: Functions in L-arginine homeostasis in nonhepatic tissues characterized by the competition between nitric oxide synthase (NOS) and arginase for the available intracellular substrate arginine. Arginine metabolism is a critical regulator of innate and adaptive immune responses. Involved in an antimicrobial effector pathway in polymorphonuclear granulocytes (PMN). Upon PMN cell death is liberated from the phagolysosome and depletes arginine in the microenvironment leading to suppressed T cell and natural killer (NK) cell proliferation and cytokine secretion (PubMed:15546957, PubMed:16709924, PubMed:19380772). In group 2 innate lymphoid cells (ILC2s) promotes acute type 2 inflammation in the lung and is involved in optimal ILC2 proliferation but not survival (By similarity). In humans, the immunological role in the monocytic/macrophage/dendritic cell (DC) lineage is unsure. {ECO:0000250|UniProtKB:Q61176, ECO:0000269|PubMed:15546957, ECO:0000269|PubMed:16709924, ECO:0000269|PubMed:19380772}.

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


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Fusion Gene Sequence for ATXN1-ARG1


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.

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Fusion Gene PPI Analysis for ATXN1-ARG1


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 ATXN1-ARG1


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 ATXN1-ARG1


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