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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:NR1H4-PTK7 (FusionGDB2 ID:60086)

Fusion Gene Summary for NR1H4-PTK7

check button Fusion gene summary
Fusion gene informationFusion gene name: NR1H4-PTK7
Fusion gene ID: 60086
HgeneTgene
Gene symbol

NR1H4

PTK7

Gene ID

9971

5754

Gene namenuclear receptor subfamily 1 group H member 4protein tyrosine kinase 7 (inactive)
SynonymsBAR|FXR|HRR-1|HRR1|PFIC5|RIP14CCK-4|CCK4
Cytomap

12q23.1

6p21.1

Type of geneprotein-codingprotein-coding
Descriptionbile acid receptorRXR-interacting protein 14farnesoid X nuclear receptorfarnesoid X-activated receptorfarnesol receptor HRR-1retinoid X receptor-interacting protein 14inactive tyrosine-protein kinase 7PTK7 protein tyrosine kinase 7colon carcinoma kinase 4pseudo tyrosine kinase receptor 7tyrosine-protein kinase-like 7
Modification date2020031320200322
UniProtAcc

Q96RI1

.
Ensembl transtripts involved in fusion geneENST00000188403, ENST00000392986, 
ENST00000546380, ENST00000548884, 
ENST00000549996, ENST00000551379, 
ENST00000230419, ENST00000345201, 
ENST00000349241, ENST00000352931, 
ENST00000471863, ENST00000476760, 
ENST00000481273, 
Fusion gene scores* DoF score3 X 3 X 1=99 X 9 X 4=324
# samples 310
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(10/324*10)=-1.6959938131099
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NR1H4 [Title/Abstract] AND PTK7 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNR1H4(100951817)-PTK7(43129453), # 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
HgeneNR1H4

GO:0006357

regulation of transcription by RNA polymerase II

10334992

HgeneNR1H4

GO:0010988

regulation of low-density lipoprotein particle clearance

12660231

HgeneNR1H4

GO:0034142

toll-like receptor 4 signaling pathway

19864602

HgeneNR1H4

GO:0034971

histone H3-R17 methylation

15471871

HgeneNR1H4

GO:0035356

cellular triglyceride homeostasis

20447400

HgeneNR1H4

GO:0038185

intracellular bile acid receptor signaling pathway

10334992

HgeneNR1H4

GO:0043066

negative regulation of apoptotic process

20447400

HgeneNR1H4

GO:0043124

negative regulation of I-kappaB kinase/NF-kappaB signaling

21242261

HgeneNR1H4

GO:0045944

positive regulation of transcription by RNA polymerase II

23767959

HgeneNR1H4

GO:0061178

regulation of insulin secretion involved in cellular response to glucose stimulus

20447400

HgeneNR1H4

GO:0071398

cellular response to fatty acid

20447400

HgeneNR1H4

GO:0072615

interleukin-17 secretion

21242261

HgeneNR1H4

GO:1902714

negative regulation of interferon-gamma secretion

21242261

HgeneNR1H4

GO:1903413

cellular response to bile acid

10334992

HgeneNR1H4

GO:1904468

negative regulation of tumor necrosis factor secretion

21242261

HgeneNR1H4

GO:1905695

positive regulation of phosphatidic acid biosynthetic process

23767959


check buttonFusion gene breakpoints across NR1H4 (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 PTK7 (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/ABM970687NR1H4chr12

100951817

-PTK7chr6

43129453

-


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Fusion Gene ORF analysis for NR1H4-PTK7

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-intronENST00000188403ENST00000230419NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000188403ENST00000345201NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000188403ENST00000349241NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000188403ENST00000352931NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000188403ENST00000471863NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000188403ENST00000476760NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000188403ENST00000481273NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000392986ENST00000230419NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000392986ENST00000345201NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000392986ENST00000349241NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000392986ENST00000352931NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000392986ENST00000471863NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000392986ENST00000476760NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000392986ENST00000481273NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000546380ENST00000230419NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000546380ENST00000345201NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000546380ENST00000349241NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000546380ENST00000352931NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000546380ENST00000471863NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000546380ENST00000476760NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000546380ENST00000481273NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000548884ENST00000230419NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000548884ENST00000345201NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000548884ENST00000349241NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000548884ENST00000352931NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000548884ENST00000471863NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000548884ENST00000476760NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000548884ENST00000481273NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000549996ENST00000230419NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000549996ENST00000345201NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000549996ENST00000349241NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000549996ENST00000352931NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000549996ENST00000471863NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000549996ENST00000476760NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000549996ENST00000481273NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000551379ENST00000230419NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000551379ENST00000345201NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000551379ENST00000349241NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000551379ENST00000352931NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000551379ENST00000471863NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000551379ENST00000476760NR1H4chr12

100951817

-PTK7chr6

43129453

-
intron-intronENST00000551379ENST00000481273NR1H4chr12

100951817

-PTK7chr6

43129453

-

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 NR1H4-PTK7


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 NR1H4-PTK7


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:100951817/:43129453)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NR1H4

Q96RI1

.
FUNCTION: Ligand-activated transcription factor. Receptor for bile acids (BAs) such as chenodeoxycholic acid (CDCA), lithocholic acid, deoxycholic acid (DCA) and allocholic acid (ACA). Plays a essential role in BA homeostasis through the regulation of genes involved in BA synthesis, conjugation and enterohepatic circulation. Also regulates lipid and glucose homeostasis and is involved innate immune response (PubMed:10334992, PubMed:10334993, PubMed:21383957, PubMed:22820415). The FXR-RXR heterodimer binds predominantly to farnesoid X receptor response elements (FXREs) containing two inverted repeats of the consensus sequence 5'-AGGTCA-3' in which the monomers are spaced by 1 nucleotide (IR-1) but also to tandem repeat DR1 sites with lower affinity, and can be activated by either FXR or RXR-specific ligands. It is proposed that monomeric nuclear receptors such as NR5A2/LRH-1 bound to coregulatory nuclear responsive element (NRE) halfsites located in close proximity to FXREs modulate transcriptional activity (By similarity). In the liver activates transcription of the corepressor NR0B2 thereby indirectly inhibiting CYP7A1 and CYP8B1 (involved in BA synthesis) implicating at least in part histone demethylase KDM1A resulting in epigenomic repression, and SLC10A1/NTCP (involved in hepatic uptake of conjugated BAs). Activates transcription of the repressor MAFG (involved in regulation of BA synthesis) (By similarity). Activates transcription of SLC27A5/BACS and BAAT (involved in BA conjugation), ABCB11/BSEP (involved in bile salt export) by directly recruiting histone methyltransferase CARM1, and ABCC2/MRP2 (involved in secretion of conjugated BAs) and ABCB4 (involved in secretion of phosphatidylcholine in the small intestine) (PubMed:12754200, PubMed:15471871, PubMed:17895379). Activates transcription of SLC27A5/BACS and BAAT (involved in BA conjugation), ABCB11/BSEP (involved in bile salt export) by directly recruiting histone methyltransferase CARM1, and ABCC2/MRP2 (involved in secretion of conjugated BAs) and ABCB4 (involved in secretion of phosphatidylcholine in the small intestine) (PubMed:10514450, PubMed:15239098, PubMed:16269519). In the intestine activates FGF19 expression and secretion leading to hepatic CYP7A1 repression (PubMed:12815072, PubMed:19085950). The function also involves the coordinated induction of hepatic KLB/beta-klotho expression (By similarity). Regulates transcription of liver UGT2B4 and SULT2A1 involved in BA detoxification; binding to the UGT2B4 promoter seems to imply a monomeric transactivation independent of RXRA (PubMed:12806625, PubMed:16946559). Modulates lipid homeostasis by activating liver NR0B2/SHP-mediated repression of SREBF1 (involved in de novo lipogenesis), expression of PLTP (involved in HDL formation), SCARB1 (involved in HDL hepatic uptake), APOE, APOC1, APOC4, PPARA (involved in beta-oxidation of fatty acids), VLDLR and SDC1 (involved in the hepatic uptake of LDL and IDL remnants), and inhibiting expression of MTTP (involved in VLDL assembly (PubMed:12660231, PubMed:12554753, PubMed:15337761). Increases expression of APOC2 (promoting lipoprotein lipase activity implicated in triglyceride clearance) (PubMed:11579204). Transrepresses APOA1 involving a monomeric competition with NR2A1 for binding to a DR1 element (PubMed:11927623, PubMed:21804189). Also reduces triglyceride clearance by inhibiting expression of ANGPTL3 and APOC3 (both involved in inhibition of lipoprotein lipase) (PubMed:12891557). Involved in glucose homeostasis by modulating hepatic gluconeogenesis through activation of NR0B2/SHP-mediated repression of respective genes. Modulates glycogen synthesis (inducing phosphorylation of glycogen synthase kinase-3) (By similarity). Modulates glucose-stimulated insulin secretion and is involved in insulin resistance (PubMed:20447400). Involved in intestinal innate immunity. Plays a role in protecting the distal small intestine against bacterial overgrowth and preservation of the epithelial barrier (By similarity). Down-regulates inflammatory cytokine expression in several types of immune cells including macrophages and mononuclear cells (PubMed:21242261). Mediates trans-repression of TLR4-induced cytokine expression; the function seems to require its sumoylation and prevents N-CoR nuclear receptor corepressor clearance from target genes such as IL1B and NOS2 (PubMed:19864602). Involved in the TLR9-mediated protective mechanism in intestinal inflammation. Plays an anti-inflammatory role in liver inflammation; proposed to inhibit proinflammatory (but not antiapoptotic) NF-kappa-B signaling) (By similarity). {ECO:0000250|UniProtKB:Q60641, ECO:0000250|UniProtKB:Q62735, ECO:0000269|PubMed:10334992, ECO:0000269|PubMed:10334993, ECO:0000269|PubMed:10514450, ECO:0000269|PubMed:11579204, ECO:0000269|PubMed:11927623, ECO:0000269|PubMed:12554753, ECO:0000269|PubMed:12660231, ECO:0000269|PubMed:12718892, ECO:0000269|PubMed:12754200, ECO:0000269|PubMed:12806625, ECO:0000269|PubMed:12815072, ECO:0000269|PubMed:12891557, ECO:0000269|PubMed:14684751, ECO:0000269|PubMed:15239098, ECO:0000269|PubMed:15337761, ECO:0000269|PubMed:15471871, ECO:0000269|PubMed:16269519, ECO:0000269|PubMed:16946559, ECO:0000269|PubMed:17895379, ECO:0000269|PubMed:18621523, ECO:0000269|PubMed:19085950, ECO:0000269|PubMed:19410460, ECO:0000269|PubMed:19586769, ECO:0000269|PubMed:19864602, ECO:0000269|PubMed:20447400, ECO:0000269|PubMed:21242261, ECO:0000269|PubMed:21804189, ECO:0000269|PubMed:23928191, ECO:0000305|PubMed:21383957, ECO:0000305|PubMed:22820415}.; FUNCTION: [Isoform 1]: Promotes transcriptional activation of target genes NR0B2/SHP (inducible by unconjugated CDCA), SLC51B/OSTB (inducible by unconjugated CDCA and DCA) and FABP6/IBAP; low activity for ABCB11/BSEP (inducible by unconjugated CDCA, DCA and ACA); not inducible by taurine- and glycine-amidated CDCA. {ECO:0000269|PubMed:23928191}.; FUNCTION: [Isoform 2]: Promotes transcriptional activation of target genes ABCB11/BSEP (inducible by unconjugated CDCA, DCA and ACA), NR0B2/SHP (inducible by unconjugated CDCA DCA and ACA), SLC51B/OSTB (inducible by unconjugated CDCA and DCA) and FABP6/IBAP; not inducible by taurine- and glycine-amidated CDCA. {ECO:0000269|PubMed:23928191}.; FUNCTION: [Isoform 3]: Promotes transcriptional activation of target genes NR0B2/SHP (inducible by unconjugated CDCA), SLC51B/OSTB (inducible by unconjugated CDCA and DCA) and IBAP; low activity for ABCB11/BSEP (inducible by unconjugated CDCA, DCA and ACA); not inducible by taurine- and glycine-amidated CDCA. {ECO:0000269|PubMed:23928191}.; FUNCTION: [Isoform 4]: Promotes transcriptional activation of target genes ABCB11/BSEP (inducible by unconjugated CDCA, ACA and DCA), NR0B2/SHP (inducible by unconjugated CDCA, ACA and DCA), SLC51B/OSTB (inducible by unconjugated CDCA and DCA) and FABP6/IBAP; most efficient isoform compared to isoforms 1 to 3; not inducible by taurine- and glycine-amidated CDCA. {ECO:0000269|PubMed:23928191, ECO:0000269|PubMed:26888176}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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 NR1H4-PTK7


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 NR1H4-PTK7


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 NR1H4-PTK7


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 NR1H4-PTK7


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