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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: 38044

FusionGeneSummary for THSD4_NR2E3

check button Fusion gene summary
Fusion gene informationFusion gene name: THSD4_NR2E3
Fusion gene ID: 38044
HgeneTgene
Gene symbol

THSD4

NR2E3

Gene ID

79875

10002

Gene namethrombospondin type 1 domain containing 4nuclear receptor subfamily 2 group E member 3
SynonymsADAMTSL-6|ADAMTSL6|FVSY9334|PRO34005ESCS|PNR|RNR|RP37|rd7
Cytomap

15q23

15q23

Type of geneprotein-codingprotein-coding
Descriptionthrombospondin type-1 domain-containing protein 4A disintegrin and metalloproteinase with thrombospondin motifs-like protein 6ADAMTS-like protein 6thrombospondin, type I, domain containing 4photoreceptor-specific nuclear receptorretina-specific nuclear receptor
Modification date2018051920180519
UniProtAcc

Q6ZMP0

Ensembl transtripts involved in fusion geneENST00000355327, ENST00000261862, 
ENST00000357769, ENST00000567838, 
ENST00000398840, 
Fusion gene scores* DoF score9 X 8 X 7=5043 X 2 X 3=18
# samples 153
** MAII scorelog2(15/504*10)=-1.74846123300404
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: THSD4 [Title/Abstract] AND NR2E3 [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
TgeneNR2E3

GO:0045944

positive regulation of transcription by RNA polymerase II

22174013


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
TCGALDOVTCGA-24-1563-01ATHSD4chr15

71839820

+NR2E3chr15

72099357

+
* 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-intronENST00000355327ENST00000398840THSD4chr15

71839820

+NR2E3chr15

72099357

+
intron-intronENST00000261862ENST00000398840THSD4chr15

71839820

+NR2E3chr15

72099357

+
5CDS-intronENST00000357769ENST00000398840THSD4chr15

71839820

+NR2E3chr15

72099357

+
intron-intronENST00000567838ENST00000398840THSD4chr15

71839820

+NR2E3chr15

72099357

+

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FusionProtFeatures for THSD4_NR2E3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
THSD4

Q6ZMP0

NR2E3

Promotes FBN1 matrix assembly. Attenuates TGFBsignaling, possibly by accelerating the sequestration of largelatent complexes of TGFB or active TGFB by FBN1 microfibrilassembly, thereby negatively regulating the expression of TGFBregulatory targets, such as POSTN (By similarity). {ECO:0000250}. 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}.

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 THSD4_NR2E3


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 THSD4_NR2E3


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
THSD4ZNF195, ALMS1, KRBA1, CEP164, GLI3, ZNF609, FOXG1, APPBP2, HSPA8, USP54, OFD1, RIPK1, ARID5B, MLF1, NUFIP2, HELZ, KANK2, VSIG8, HSPA2NR2E3RARA, RXRA, POLR3D, ELAVL2, NR3C1, HOXC13, PPARG, SNAPC1, ZNF232, IRF9, RBFOX2, DEDD2, VDR, BCL11A, NR2E3, NR1D1, CRX, NRL


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 THSD4_NR2E3


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 THSD4_NR2E3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTHSD4C0236969Substance-Related Disorders1CTD_human
TgeneNR2E3C1849394Enhanced S-Cone Syndrome7CTD_human;UNIPROT
TgeneNR2E3C1970163RETINITIS PIGMENTOSA 37 (disorder)2CTD_human;UNIPROT