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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: 37518

FusionGeneSummary for TC2N_ATXN3

check button Fusion gene summary
Fusion gene informationFusion gene name: TC2N_ATXN3
Fusion gene ID: 37518
HgeneTgene
Gene symbol

TC2N

ATXN3

Gene ID

123036

4287

Gene nametandem C2 domains, nuclearataxin 3
SynonymsC14orf47|C2CD1|MTAC2D1|Tac2-NAT3|ATX3|JOS|MJD|MJD1|SCA3
Cytomap

14q32.12

14q32.12

Type of geneprotein-codingprotein-coding
Descriptiontandem C2 domains nuclear proteinC2 calcium-dependent domain containing 1membrane targeting (tandem) C2 domain containing 1tandem C2 protein in nucleusataxin-3Machado-Joseph disease protein 1josephinolivopontocerebellar ataxia 3spinocerebellar ataxia type 3 protein
Modification date2018052220180523
UniProtAcc

Q8N9U0

P54252

Ensembl transtripts involved in fusion geneENST00000435962, ENST00000340892, 
ENST00000360594, ENST00000556018, 
ENST00000555302, 		ENST00000545170, 
ENST00000429774, ENST00000393287, 
ENST00000502250, ENST00000503767, 
ENST00000340660, ENST00000532032, 
ENST00000554491, 
Fusion gene scores* DoF score4 X 3 X 4=484 X 3 X 3=36
# samples 65
** MAII scorelog2(6/48*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(5/36*10)=0.473931188332412
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: TC2N [Title/Abstract] AND ATXN3 [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
TgeneATXN3

GO:0070536

protein K63-linked deubiquitination

22970133

TgeneATXN3

GO:0071108

protein K48-linked deubiquitination

22970133


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
TCGALDBRCATCGA-GM-A3XL-01ATC2Nchr14

92278656

-ATXN3chr14

92516880

-
TCGALDBRCATCGA-JL-A3YW-01ATC2Nchr14

92246920

-ATXN3chr14

92563182

-
* 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
5CDS-intronENST00000435962ENST00000545170TC2Nchr14

92278656

-ATXN3chr14

92516880

-
5CDS-intronENST00000435962ENST00000429774TC2Nchr14

92278656

-ATXN3chr14

92516880

-
5CDS-intronENST00000435962ENST00000393287TC2Nchr14

92278656

-ATXN3chr14

92516880

-
5CDS-intronENST00000435962ENST00000502250TC2Nchr14

92278656

-ATXN3chr14

92516880

-
5CDS-intronENST00000435962ENST00000503767TC2Nchr14

92278656

-ATXN3chr14

92516880

-
5CDS-intronENST00000435962ENST00000340660TC2Nchr14

92278656

-ATXN3chr14

92516880

-
5CDS-intronENST00000435962ENST00000532032TC2Nchr14

92278656

-ATXN3chr14

92516880

-
5CDS-intronENST00000435962ENST00000554491TC2Nchr14

92278656

-ATXN3chr14

92516880

-
5CDS-intronENST00000340892ENST00000545170TC2Nchr14

92278656

-ATXN3chr14

92516880

-
5CDS-intronENST00000340892ENST00000429774TC2Nchr14

92278656

-ATXN3chr14

92516880

-
5CDS-intronENST00000340892ENST00000393287TC2Nchr14

92278656

-ATXN3chr14

92516880

-
5CDS-intronENST00000340892ENST00000502250TC2Nchr14

92278656

-ATXN3chr14

92516880

-
5CDS-intronENST00000340892ENST00000503767TC2Nchr14

92278656

-ATXN3chr14

92516880

-
5CDS-intronENST00000340892ENST00000340660TC2Nchr14

92278656

-ATXN3chr14

92516880

-
5CDS-intronENST00000340892ENST00000532032TC2Nchr14

92278656

-ATXN3chr14

92516880

-
5CDS-intronENST00000340892ENST00000554491TC2Nchr14

92278656

-ATXN3chr14

92516880

-
5CDS-intronENST00000360594ENST00000545170TC2Nchr14

92278656

-ATXN3chr14

92516880

-
5CDS-intronENST00000360594ENST00000429774TC2Nchr14

92278656

-ATXN3chr14

92516880

-
5CDS-intronENST00000360594ENST00000393287TC2Nchr14

92278656

-ATXN3chr14

92516880

-
5CDS-intronENST00000360594ENST00000502250TC2Nchr14

92278656

-ATXN3chr14

92516880

-
5CDS-intronENST00000360594ENST00000503767TC2Nchr14

92278656

-ATXN3chr14

92516880

-
5CDS-intronENST00000360594ENST00000340660TC2Nchr14

92278656

-ATXN3chr14

92516880

-
5CDS-intronENST00000360594ENST00000532032TC2Nchr14

92278656

-ATXN3chr14

92516880

-
5CDS-intronENST00000360594ENST00000554491TC2Nchr14

92278656

-ATXN3chr14

92516880

-
5CDS-intronENST00000556018ENST00000545170TC2Nchr14

92278656

-ATXN3chr14

92516880

-
5CDS-intronENST00000556018ENST00000429774TC2Nchr14

92278656

-ATXN3chr14

92516880

-
5CDS-intronENST00000556018ENST00000393287TC2Nchr14

92278656

-ATXN3chr14

92516880

-
5CDS-intronENST00000556018ENST00000502250TC2Nchr14

92278656

-ATXN3chr14

92516880

-
5CDS-intronENST00000556018ENST00000503767TC2Nchr14

92278656

-ATXN3chr14

92516880

-
5CDS-intronENST00000556018ENST00000340660TC2Nchr14

92278656

-ATXN3chr14

92516880

-
5CDS-intronENST00000556018ENST00000532032TC2Nchr14

92278656

-ATXN3chr14

92516880

-
5CDS-intronENST00000556018ENST00000554491TC2Nchr14

92278656

-ATXN3chr14

92516880

-
intron-intronENST00000555302ENST00000545170TC2Nchr14

92278656

-ATXN3chr14

92516880

-
intron-intronENST00000555302ENST00000429774TC2Nchr14

92278656

-ATXN3chr14

92516880

-
intron-intronENST00000555302ENST00000393287TC2Nchr14

92278656

-ATXN3chr14

92516880

-
intron-intronENST00000555302ENST00000502250TC2Nchr14

92278656

-ATXN3chr14

92516880

-
intron-intronENST00000555302ENST00000503767TC2Nchr14

92278656

-ATXN3chr14

92516880

-
intron-intronENST00000555302ENST00000340660TC2Nchr14

92278656

-ATXN3chr14

92516880

-
intron-intronENST00000555302ENST00000532032TC2Nchr14

92278656

-ATXN3chr14

92516880

-
intron-intronENST00000555302ENST00000554491TC2Nchr14

92278656

-ATXN3chr14

92516880

-
intron-3CDSENST00000435962ENST00000545170TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-3CDSENST00000435962ENST00000429774TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-3CDSENST00000435962ENST00000393287TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-intronENST00000435962ENST00000502250TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-intronENST00000435962ENST00000503767TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-intronENST00000435962ENST00000340660TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-intronENST00000435962ENST00000532032TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-5UTRENST00000435962ENST00000554491TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-3CDSENST00000340892ENST00000545170TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-3CDSENST00000340892ENST00000429774TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-3CDSENST00000340892ENST00000393287TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-intronENST00000340892ENST00000502250TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-intronENST00000340892ENST00000503767TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-intronENST00000340892ENST00000340660TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-intronENST00000340892ENST00000532032TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-5UTRENST00000340892ENST00000554491TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-3CDSENST00000360594ENST00000545170TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-3CDSENST00000360594ENST00000429774TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-3CDSENST00000360594ENST00000393287TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-intronENST00000360594ENST00000502250TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-intronENST00000360594ENST00000503767TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-intronENST00000360594ENST00000340660TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-intronENST00000360594ENST00000532032TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-5UTRENST00000360594ENST00000554491TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-3CDSENST00000556018ENST00000545170TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-3CDSENST00000556018ENST00000429774TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-3CDSENST00000556018ENST00000393287TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-intronENST00000556018ENST00000502250TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-intronENST00000556018ENST00000503767TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-intronENST00000556018ENST00000340660TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-intronENST00000556018ENST00000532032TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-5UTRENST00000556018ENST00000554491TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-3CDSENST00000555302ENST00000545170TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-3CDSENST00000555302ENST00000429774TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-3CDSENST00000555302ENST00000393287TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-intronENST00000555302ENST00000502250TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-intronENST00000555302ENST00000503767TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-intronENST00000555302ENST00000340660TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-intronENST00000555302ENST00000532032TC2Nchr14

92246920

-ATXN3chr14

92563182

-
intron-5UTRENST00000555302ENST00000554491TC2Nchr14

92246920

-ATXN3chr14

92563182

-

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FusionProtFeatures for TC2N_ATXN3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TC2N

Q8N9U0

ATXN3

P54252


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 TC2N_ATXN3


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 TC2N_ATXN3


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
TC2NELAVL1, ERRFI1, GPBP1L1, EAF1ATXN3VCP, RAD23A, RAD23B, UBC, USP13, OTUB2, KCTD10, HDAC3, NCOR1, CREBBP, EP300, KAT2B, UBE4B, XRCC6, UBQLN1, STUB1, PARK2, AMFR, DNM2, MKNK1, GSK3B, RPS6KA1, TK1, CDKN1A, ANXA7, UBE2L3, FOXO4, UBE2S, TRAF6, PSMC5, DNAJB2, CSNK2B, ATXN3, CREB1, PML, HAP1, ARHGAP19, EWSR1, C16orf70, TEX11, PICK1, SPRTN, NEDD8, RFFL, PJA1, TRIM63, TRIM55, TRIM54, USP21, ARHGDIA, ASIC1, SUMO1, APP, BCL2L1, BAG3, SYVN1, HDAC6, TUBB, TUBA1A, MGRN1, ITCH, SQSTM1, MAP3K1, AEBP2, DND1, TOMM20L, PNKP, CANX, NFKBIA, SDC2, SLC3A2, SRI, BCL7C, RSF1, TMCO1, CNOT6, CAMSAP3, PSRC1, NDUFAF2, TIMM23, HLA-A, SMURF1, HSP90AA1, TP53, CAPN2, MDC1


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 TC2N_ATXN3


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 TC2N_ATXN3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneATXN3C0011570Mental Depression5PSYGENET
TgeneATXN3C0011581Depressive disorder5PSYGENET
TgeneATXN3C0027746Nerve Degeneration1CTD_human