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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 3567

FusionGeneSummary for ATXN1_ARG1

check button Fusion gene summary
Fusion gene informationFusion gene name: ATXN1_ARG1
Fusion gene ID: 3567
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 date2018052220180523
UniProtAcc

P54253

P05089

Ensembl transtripts involved in fusion geneENST00000244769, ENST00000436367, 
ENST00000467008, 
ENST00000368087, 
ENST00000356962, ENST00000498260, 
Fusion gene scores* DoF score20 X 12 X 9=21602 X 3 X 2=12
# samples 212
** MAII scorelog2(21/2160*10)=-3.36257007938471
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]

Functional or gene categories assigned by FusionGDB annotation
* 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


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLUADTCGA-55-6978-01AATXN1chr6

16658007

-ARG1chr6

131900251

+
TCGALDLUADTCGA-55-6978-01AATXN1chr6

16658007

-ARG1chr6

131897803

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-3CDSENST00000244769ENST00000368087ATXN1chr6

16658007

-ARG1chr6

131900251

+
5UTR-3CDSENST00000244769ENST00000356962ATXN1chr6

16658007

-ARG1chr6

131900251

+
5UTR-3UTRENST00000244769ENST00000498260ATXN1chr6

16658007

-ARG1chr6

131900251

+
5UTR-3CDSENST00000436367ENST00000368087ATXN1chr6

16658007

-ARG1chr6

131900251

+
5UTR-3CDSENST00000436367ENST00000356962ATXN1chr6

16658007

-ARG1chr6

131900251

+
5UTR-3UTRENST00000436367ENST00000498260ATXN1chr6

16658007

-ARG1chr6

131900251

+
intron-3CDSENST00000467008ENST00000368087ATXN1chr6

16658007

-ARG1chr6

131900251

+
intron-3CDSENST00000467008ENST00000356962ATXN1chr6

16658007

-ARG1chr6

131900251

+
intron-3UTRENST00000467008ENST00000498260ATXN1chr6

16658007

-ARG1chr6

131900251

+
5UTR-3CDSENST00000244769ENST00000368087ATXN1chr6

16658007

-ARG1chr6

131897803

+
5UTR-3CDSENST00000244769ENST00000356962ATXN1chr6

16658007

-ARG1chr6

131897803

+
5UTR-3UTRENST00000244769ENST00000498260ATXN1chr6

16658007

-ARG1chr6

131897803

+
5UTR-3CDSENST00000436367ENST00000368087ATXN1chr6

16658007

-ARG1chr6

131897803

+
5UTR-3CDSENST00000436367ENST00000356962ATXN1chr6

16658007

-ARG1chr6

131897803

+
5UTR-3UTRENST00000436367ENST00000498260ATXN1chr6

16658007

-ARG1chr6

131897803

+
intron-3CDSENST00000467008ENST00000368087ATXN1chr6

16658007

-ARG1chr6

131897803

+
intron-3CDSENST00000467008ENST00000356962ATXN1chr6

16658007

-ARG1chr6

131897803

+
intron-3UTRENST00000467008ENST00000498260ATXN1chr6

16658007

-ARG1chr6

131897803

+

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FusionProtFeatures for ATXN1_ARG1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATXN1

P54253

ARG1

P05089

Chromatin-binding factor that repress Notch signaling inthe absence of Notch intracellular domain by acting as a CBF1corepressor. Binds to the HEY promoter and might assist, alongwith NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May beinvolved in RNA metabolism (PubMed:21475249). In concert with CICand ATXN1L, involved in brain development (By similarity).{ECO:0000250|UniProtKB:P54254, ECO:0000269|PubMed:21475249}. Key element of the urea cycle converting L-arginine tourea and L-ornithine, which is further metabolized intometabolites proline and polyamides that drive collagen synthesisand bioenergetic pathways critical for cell proliferation,respectively; the urea cycle takes place primarily in the liverand, to a lesser extent, in the kidneys. {ECO:0000305}. Functions in L-arginine homeostasis in nonhepatictissues characterized by the competition between nitric oxidesynthase (NOS) and arginase for the available intracellularsubstrate arginine. Arginine metabolism is a critical regulator ofinnate and adaptive immune responses. Involved in an antimicrobialeffector pathway in polymorphonuclear granulocytes (PMN). Upon PMNcell death is liberated from the phagolysosome and depletesarginine in the microenvironment leading to suppressed T cell andnatural killer (NK) cell proliferation and cytokine secretion(PubMed:15546957, PubMed:16709924, PubMed:19380772). In group 2innate lymphoid cells (ILC2s) promotes acute type 2 inflammationin the lung and is involved in optimal ILC2 proliferation but notsurvival (By similarity). In humans, the immunological role in themonocytic/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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FusionGeneSequence for ATXN1_ARG1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI 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
ATXN1COIL, UBQLN4, ANP32A, USP7, ZHX1, PQBP1, GAPDH, UBE2E1, STUB1, SREBF2, NCOR2, ATXN1L, HDAC4, MYEF2, HSPA4, HSPA8, ATP6V0D1, TCEANC, GCFC2, CCNK, CDK6, NUDT21, CRK, BEND2, DAZAP2, EFEMP2, FAM46A, FAM46B, CPSF7, ZC3H10, METTL17, IST1, KLHL12, BATF2, C1orf94, NUMBL, SLC51A, OTX2, MED15, RHOXF2, PIM2, POM121, RBFOX2, RBPMS, CLASRP, TBC1D5, TCAP, TRAF2, TRIM32, ZBTB32, U2AF2, ZCCHC13, RBFOX1, ACACA, ATP1A3, PRRC2A, BTG3, VSTM2L, ZNF804A, CFL1, CIC, CLEC4F, FDPS, HIVEP1, GPATCH8, KLF11, HSFX1, RCN1, RNF31, YY1AP1, ZNF488, ATXN1, DMPK, SYBU, GMEB2, IPO8, MBP, PHPT1, SIX5, SREBF1, SGMS1, TTC19, APBB1, ATXN2, ATXN2L, FYN, HPCAL1, WNK1, SETD2, PRRC2B, PPP6R2, ZSWIM8, R3HDM2, NUTM2B, MTERF4, OAZ1, PUM1, RAPGEF4, ARHGAP32, SPEN, RAD54L2, UBE2E3, USP54, WNK2, ZNF276, ZHX2, ZHX3, ANKHD1, ARID5A, TOX4, CST3, DNAJA3, DZIP3, EIF1AY, EIF4ENIF1, ENTPD6, SUPT20H, FHL2, QRICH1, KIAA1549L, GCA, HSPA1A, ITGB4, KCNAB2, KIAA2026, IL34, KMT2B, KAT6A, CCDC136, NCOR1, NLK, NR4A1, PEPD, PRDM1, R3HDM1, STAC2, TOLLIP, TRIP6, UBAP2L, UBE2I, VSNL1, ZYX, CIRBP, AHDC1, PTGDS, ZC3H7B, ZNF609, ADCY6, ACOT7, DCTN3, ELP5, FAM21C, FAT4, FAM193B, GSPT1, KLHL8, LDB1, LOC401442, LRSAM1, MATN2, MYO18A, NARS, PSMC3, SAR1A, MSMO1, SUGP2, SMARCC2, ST6GALNAC6, UNK, TRIM38, STAM2, PIAS1, SV2A, SLC6A13, HNRNPLL, ZXDC, LASP1, TP53I11, CREM, LITAF, CHRNA7, SEMA4G, ZSCAN1, TSC1, KCTD15, TCTA, CDIP1, EIF1B, HEY2, DOCK5, ESRRA, RAI2, C2orf27B, TDP2, CLCN2, FAR1, FUBP3, CRY2, DHRSX, IMMT, PSPH, SLC25A51, MSX2, TMX2, SLC4A2, QKI, MLST8, PPAT, CRIP2, FOSL1, YWHAE, UHRF2, RBM26, NCAM1, LOXL1, BASP1, PLEKHB1, KIF22, BAALC, NPHP3, GATAD1, UHRF1BP1L, SF1, IGF2R, RAPGEF1, LPAR2, MAGEB18, GGA2, ADD3, ETV4, TOMM20, MAGEB2, WBSCR16, MAGEB6, HYPM, ASNS, HIST1H3A, HEYL, DIXDC1, OPCML, ATF5, CAMK2B, ILVBL, EHMT1, EIF3F, DHX37, HOTAIR, PML, RNF4, VCP, SUMO1, REL, TBX15, ESRP1, PRR20AARG1USP53, ATG101, UCHL5, RAD21, ESR1, ALDH4A1, RPA3, RPA2, RPA1, CCDC8, EZH2, SUZ12, BMI1, GPR18, CCDC51, HNRNPA1, NTRK1, MCM2, ZIC1, FCF1, C21orf59, MCL1, NPPA, ARG2, SPICE1, EHF, CYLD, TRIM25


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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RelatedDrugs for ATXN1_ARG1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for ATXN1_ARG1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATXN1C0087012Ataxia, Spinocerebellar4CTD_human;HPO
HgeneATXN1C2362914clinical depression1PSYGENET
TgeneARG1C0268548Hyperargininemia3CTD_human;ORPHANET;UNIPROT
TgeneARG1C0004096Asthma2CTD_human
TgeneARG1C0002514Amino Acid Metabolism, Inborn Errors1CTD_human
TgeneARG1C0018500Hair Diseases1CTD_human
TgeneARG1C0021053Immune System Diseases1CTD_human
TgeneARG1C0023281Leishmaniasis1CTD_human
TgeneARG1C0026848Myopathy1CTD_human
TgeneARG1C0032927Precancerous Conditions1CTD_human
TgeneARG1C0037116Silicosis1CTD_human
TgeneARG1C4277682Chemical and Drug Induced Liver Injury1CTD_human