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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: 40331

FusionGeneSummary for UBA6-AS1_NR2C2

check button Fusion gene summary
Fusion gene informationFusion gene name: UBA6-AS1_NR2C2
Fusion gene ID: 40331
HgeneTgene
Gene symbol

UBA6-AS1

NR2C2

Gene ID

550112

7182

Gene nameUBA6 antisense RNA 1 (head to head)nuclear receptor subfamily 2 group C member 2
Synonyms-TAK1|TR4
Cytomap

4q13.2

3p25.1

Type of genencRNAprotein-coding
Description-nuclear receptor subfamily 2 group C member 2Nuclear hormone receptor TR4orphan nuclear receptor TAK1orphan nuclear receptor TR4orphan receptor TR4testicular nuclear receptor 4
Modification date2018032920180519
UniProtAcc

P49116

Ensembl transtripts involved in fusion geneENST00000500538, ENST00000499180, 
ENST00000511571, ENST00000498917, 
ENST00000506606, ENST00000514109, 
ENST00000502758, 
ENST00000425241, 
ENST00000323373, ENST00000393102, 
ENST00000406272, ENST00000478572, 
Fusion gene scores* DoF score1 X 1 X 1=16 X 6 X 2=72
# samples 16
** MAII scorelog2(1/1*10)=3.32192809488736log2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: UBA6-AS1 [Title/Abstract] AND NR2C2 [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
TgeneNR2C2

GO:0045944

positive regulation of transcription by RNA polymerase II

9556573|10644740


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
ChiTaRS3.1AW892618UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
* 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
intron-intronENST00000500538ENST00000425241UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000500538ENST00000323373UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000500538ENST00000393102UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000500538ENST00000406272UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000500538ENST00000478572UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000499180ENST00000425241UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000499180ENST00000323373UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000499180ENST00000393102UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000499180ENST00000406272UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000499180ENST00000478572UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000511571ENST00000425241UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000511571ENST00000323373UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000511571ENST00000393102UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000511571ENST00000406272UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000511571ENST00000478572UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000498917ENST00000425241UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000498917ENST00000323373UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000498917ENST00000393102UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000498917ENST00000406272UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000498917ENST00000478572UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000506606ENST00000425241UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000506606ENST00000323373UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000506606ENST00000393102UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000506606ENST00000406272UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000506606ENST00000478572UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000514109ENST00000425241UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000514109ENST00000323373UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000514109ENST00000393102UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000514109ENST00000406272UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000514109ENST00000478572UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000502758ENST00000425241UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000502758ENST00000323373UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000502758ENST00000393102UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000502758ENST00000406272UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-
intron-intronENST00000502758ENST00000478572UBA6-AS1chr4

68917871

+NR2C2chr3

15088578

-

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FusionProtFeatures for UBA6-AS1_NR2C2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
UBA6-AS1

NR2C2

P49116

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. Orphan nuclear receptor that can act as a repressor oractivator of transcription. An important repressor of nuclearreceptor signaling pathways such as retinoic acid receptor,retinoid X, vitamin D3 receptor, thyroid hormone receptor andestrogen receptor pathways. May regulate gene expression duringthe late phase of spermatogenesis. Together with NR2C1, forms thecore of the DRED (direct repeat erythroid-definitive) complex thatrepresses embryonic and fetal globin transcription including thatof GATA1. Binds to hormone response elements (HREs) consisting oftwo 5'-AGGTCA-3' half site direct repeat consensus sequences.Plays a fundamental role in early embryonic development andembryonic stem cells. Required for normal spermatogenesis andcerebellum development. Appears to be important forneurodevelopmentally regulated behavior (By similarity). Activatestranscriptional activity of LHCG. Antagonist of PPARA-mediatedtransactivation. {ECO:0000250, ECO:0000269|PubMed:10347174,ECO:0000269|PubMed:10644740, ECO:0000269|PubMed:17974920,ECO:0000269|PubMed:7779113, ECO:0000269|PubMed:9556573}.

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 UBA6-AS1_NR2C2


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 UBA6-AS1_NR2C2


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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RelatedDrugs for UBA6-AS1_NR2C2


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 UBA6-AS1_NR2C2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneNR2C2C0014175Endometriosis1CTD_human