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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:SFPQ-NR4A1 (FusionGDB2 ID:80561)

Fusion Gene Summary for SFPQ-NR4A1

check button Fusion gene summary
Fusion gene informationFusion gene name: SFPQ-NR4A1
Fusion gene ID: 80561
HgeneTgene
Gene symbol

SFPQ

NR4A1

Gene ID

654780

3164

Gene namesplicing factor proline/glutamine-richnuclear receptor subfamily 4 group A member 1
SynonymsSFPQGFRP1|HMR|N10|NAK-1|NGFIB|NP10|NUR77|TR3
Cytomap

16q24.1

12q13.13

Type of genencRNAprotein-coding
Description-nuclear receptor subfamily 4 group A member 1ST-59TR3 orphan receptorearly response protein NAK1growth factor-inducible nuclear protein N10hormone receptornerve growth factor IB nuclear receptor variant 1nuclear hormone receptor NUR/77orphan nucle
Modification date2020030320200329
UniProtAcc.

P22736

Ensembl transtripts involved in fusion geneENST00000357214, ENST00000468598, 
ENST00000360284, ENST00000545748, 
ENST00000550082, ENST00000547206, 
ENST00000243050, ENST00000394825, 
ENST00000394824, ENST00000548232, 
Fusion gene scores* DoF score14 X 16 X 8=179215 X 14 X 4=840
# samples 1916
** MAII scorelog2(19/1792*10)=-3.23749931372666
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(16/840*10)=-2.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SFPQ [Title/Abstract] AND NR4A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSFPQ(35658443)-NR4A1(52448514), # samples:1
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
TgeneNR4A1

GO:0002042

cell migration involved in sprouting angiogenesis

18059339

TgeneNR4A1

GO:0045944

positive regulation of transcription by RNA polymerase II

22427340


check buttonFusion gene breakpoints across SFPQ (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 NR4A1 (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
ChiTaRS5.0N/AAW614419SFPQchr1

35658443

-NR4A1chr12

52448514

-


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Fusion Gene ORF analysis for SFPQ-NR4A1

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-3CDSENST00000357214ENST00000360284SFPQchr1

35658443

-NR4A1chr12

52448514

-
intron-3CDSENST00000357214ENST00000545748SFPQchr1

35658443

-NR4A1chr12

52448514

-
intron-3CDSENST00000357214ENST00000550082SFPQchr1

35658443

-NR4A1chr12

52448514

-
intron-intronENST00000357214ENST00000547206SFPQchr1

35658443

-NR4A1chr12

52448514

-
intron-intronENST00000357214ENST00000243050SFPQchr1

35658443

-NR4A1chr12

52448514

-
intron-intronENST00000357214ENST00000394825SFPQchr1

35658443

-NR4A1chr12

52448514

-
intron-intronENST00000357214ENST00000394824SFPQchr1

35658443

-NR4A1chr12

52448514

-
intron-intronENST00000357214ENST00000548232SFPQchr1

35658443

-NR4A1chr12

52448514

-
intron-3CDSENST00000468598ENST00000360284SFPQchr1

35658443

-NR4A1chr12

52448514

-
intron-3CDSENST00000468598ENST00000545748SFPQchr1

35658443

-NR4A1chr12

52448514

-
intron-3CDSENST00000468598ENST00000550082SFPQchr1

35658443

-NR4A1chr12

52448514

-
intron-intronENST00000468598ENST00000547206SFPQchr1

35658443

-NR4A1chr12

52448514

-
intron-intronENST00000468598ENST00000243050SFPQchr1

35658443

-NR4A1chr12

52448514

-
intron-intronENST00000468598ENST00000394825SFPQchr1

35658443

-NR4A1chr12

52448514

-
intron-intronENST00000468598ENST00000394824SFPQchr1

35658443

-NR4A1chr12

52448514

-
intron-intronENST00000468598ENST00000548232SFPQchr1

35658443

-NR4A1chr12

52448514

-

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 SFPQ-NR4A1


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)

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.

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Fusion Protein Features for SFPQ-NR4A1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.NR4A1

P22736

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Orphan nuclear receptor. May act concomitantly with NURR1 in regulating the expression of delayed-early genes during liver regeneration. Binds the NGFI-B response element (NBRE) 5'-AAAAGGTCA-3' (By similarity). May inhibit NF-kappa-B transactivation of IL2. Participates in energy homeostasis by sequestrating the kinase STK11 in the nucleus, thereby attenuating cytoplasmic AMPK activation. Plays a role in the vascular response to injury (By similarity). {ECO:0000250, ECO:0000250|UniProtKB:P12813, ECO:0000269|PubMed:15466594, ECO:0000269|PubMed:22983157}.

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 SFPQ-NR4A1


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 SFPQ-NR4A1


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 SFPQ-NR4A1


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 SFPQ-NR4A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSFPQC4518356MiT family translocation renal cell carcinoma2ORPHANET
HgeneSFPQC0019693HIV Infections1CTD_human
HgeneSFPQC0037274Dermatologic disorders1CTD_human
HgeneSFPQC0274861Arsenic Poisoning, Inorganic1CTD_human
HgeneSFPQC0274862Nervous System, Organic Arsenic Poisoning1CTD_human
HgeneSFPQC0311375Arsenic Poisoning1CTD_human
HgeneSFPQC0751851Arsenic Encephalopathy1CTD_human
HgeneSFPQC0751852Arsenic Induced Polyneuropathy1CTD_human
HgeneSFPQC4505456HIV Coinfection1CTD_human
TgeneNR4A1C0011574Involutional Depression1CTD_human
TgeneNR4A1C0014175Endometriosis1CTD_human
TgeneNR4A1C0021655Insulin Resistance1CTD_human
TgeneNR4A1C0022658Kidney Diseases1CTD_human
TgeneNR4A1C0030297Pancreatic Neoplasm1CTD_human
TgeneNR4A1C0033687Proteinuria1CTD_human
TgeneNR4A1C0151744Myocardial Ischemia1CTD_human
TgeneNR4A1C0269102Endometrioma1CTD_human
TgeneNR4A1C0346647Malignant neoplasm of pancreas1CTD_human
TgeneNR4A1C0920563Insulin Sensitivity1CTD_human
TgeneNR4A1C1269683Major Depressive Disorder1CTD_human
TgeneNR4A1C1571983Involutional paraphrenia1CTD_human
TgeneNR4A1C1571984Psychosis, Involutional1CTD_human