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Center for Computational Systems Medicine level2
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:FOXP1-UGGT1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: FOXP1-UGGT1
FusionPDB ID: 31223
FusionGDB2.0 ID: 31223
HgeneTgene
Gene symbol

FOXP1

UGGT1

Gene ID

27086

56886

Gene nameforkhead box P1UDP-glucose glycoprotein glucosyltransferase 1
Synonyms12CC4|HSPC215|MFH|QRF1|hFKH1BHUGT1|UGCGL1|UGT1
Cytomap

3p13

2q14.3

Type of geneprotein-codingprotein-coding
Descriptionforkhead box protein P1fork head-related protein like Bglutamine-rich factor 1mac-1-regulated forkheadUDP-glucose:glycoprotein glucosyltransferase 1UDP--Glc:glycoprotein glucosyltransferaseUDP-glucose ceramide glucosyltransferase-like 1
Modification date2020032920200313
UniProtAcc

Q9H334

.
Ensembl transtripts involved in fusion geneENST idsENST00000318789, ENST00000468577, 
ENST00000475937, ENST00000484350, 
ENST00000491238, ENST00000493089, 
ENST00000498215, ENST00000318779, 
ENST00000472382, 
ENST00000465836, 
ENST00000259253, ENST00000375990, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score34 X 30 X 13=1326010 X 10 X 4=400
# samples 3810
** MAII scorelog2(38/13260*10)=-5.124937546669
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/400*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: FOXP1 [Title/Abstract] AND UGGT1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)FOXP1(71037145)-UGGT1(128941249), # samples:2
UGGT1(128939864)-FOXP1(71027180), # samples:2
Anticipated loss of major functional domain due to fusion event.FOXP1-UGGT1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
FOXP1-UGGT1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
FOXP1-UGGT1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
FOXP1-UGGT1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
FOXP1-UGGT1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
FOXP1-UGGT1 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
FOXP1-UGGT1 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
FOXP1-UGGT1 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
FOXP1-UGGT1 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
UGGT1-FOXP1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
UGGT1-FOXP1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
UGGT1-FOXP1 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
UGGT1-FOXP1 seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF.
UGGT1-FOXP1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
* 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
HgeneFOXP1

GO:0002903

negative regulation of B cell apoptotic process

25267198

HgeneFOXP1

GO:0010629

negative regulation of gene expression

30111844

HgeneFOXP1

GO:0030316

osteoclast differentiation

18799727

HgeneFOXP1

GO:0032496

response to lipopolysaccharide

18799727

HgeneFOXP1

GO:0032680

regulation of tumor necrosis factor production

18799727

HgeneFOXP1

GO:0035926

chemokine (C-C motif) ligand 2 secretion

18799727

HgeneFOXP1

GO:0036035

osteoclast development

18799727

HgeneFOXP1

GO:0042116

macrophage activation

18799727

HgeneFOXP1

GO:0042117

monocyte activation

18799727

HgeneFOXP1

GO:0045655

regulation of monocyte differentiation

15286807

HgeneFOXP1

GO:0045892

negative regulation of transcription, DNA-templated

20950788

HgeneFOXP1

GO:0050706

regulation of interleukin-1 beta secretion

18799727

HgeneFOXP1

GO:0050727

regulation of inflammatory response

18799727

HgeneFOXP1

GO:0060766

negative regulation of androgen receptor signaling pathway

18640093

HgeneFOXP1

GO:1900424

regulation of defense response to bacterium

18799727

HgeneFOXP1

GO:1901256

regulation of macrophage colony-stimulating factor production

18799727

HgeneFOXP1

GO:2001182

regulation of interleukin-12 secretion

18799727


check buttonFusion gene breakpoints across FOXP1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across UGGT1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4PRADTCGA-VP-A87K-01AFOXP1chr3

71037145

-UGGT1chr2

128941249

+
ChimerDB4PRADTCGA-VP-A87KFOXP1chr3

71037145

-UGGT1chr2

128941249

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000484350FOXP1chr371037145-ENST00000375990UGGT1chr2128941249+742710721541104316
ENST00000484350FOXP1chr371037145-ENST00000259253UGGT1chr2128941249+743110721541104316

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
ENST00000484350ENST00000375990FOXP1chr371037145-UGGT1chr2128941249+0.0205885560.9794114
ENST00000484350ENST00000259253FOXP1chr371037145-UGGT1chr2128941249+0.0211577170.9788423

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>31223_31223_1_FOXP1-UGGT1_FOXP1_chr3_71037145_ENST00000484350_UGGT1_chr2_128941249_ENST00000259253_length(amino acids)=316AA_BP=
MMQESGTETKSNGSAIQNGSGGSNHLLECGGLREGRSNGETPAVDIGAADLAHAQQQQQQALQVARQLLLQQQQQQQVSGLKSPKRNDKQ
PALQQQQVATQQLAFQQQLLQMQQLQQQHLLSLQRQGLLTIQPGQPALPLQPLAQGMIPTELQQLWKEVTSAHTAEETTGNNHSSLDLTT
TCVSSSAPSKTSLIMNPHASTNGQLSVHTPKRESLSHEEHPHSHPLYGHGVCKWPGCEAVCEDFQSFLKHLNSEHALDDRSTAQCRVQMQ

--------------------------------------------------------------

>31223_31223_2_FOXP1-UGGT1_FOXP1_chr3_71037145_ENST00000484350_UGGT1_chr2_128941249_ENST00000375990_length(amino acids)=316AA_BP=
MMQESGTETKSNGSAIQNGSGGSNHLLECGGLREGRSNGETPAVDIGAADLAHAQQQQQQALQVARQLLLQQQQQQQVSGLKSPKRNDKQ
PALQQQQVATQQLAFQQQLLQMQQLQQQHLLSLQRQGLLTIQPGQPALPLQPLAQGMIPTELQQLWKEVTSAHTAEETTGNNHSSLDLTT
TCVSSSAPSKTSLIMNPHASTNGQLSVHTPKRESLSHEEHPHSHPLYGHGVCKWPGCEAVCEDFQSFLKHLNSEHALDDRSTAQCRVQMQ

--------------------------------------------------------------

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Fusion Protein Functional Features


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/chr3:71037145/chr2:128941249)
- 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
FOXP1

Q9H334

.
FUNCTION: Transcriptional repressor (PubMed:18347093, PubMed:26647308). Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential (By similarity). Plays an important role in the specification and differentiation of lung epithelium. Acts cooperatively with FOXP4 to regulate lung secretory epithelial cell fate and regeneration by restricting the goblet cell lineage program; the function may involve regulation of AGR2. Essential transcriptional regulator of B-cell development. Involved in regulation of cardiac muscle cell proliferation. Involved in the columnar organization of spinal motor neurons. Promotes the formation of the lateral motor neuron column (LMC) and the preganglionic motor column (PGC) and is required for respective appropriate motor axon projections. The segment-appropriate generation of spinal chord motor columns requires cooperation with other Hox proteins. Can regulate PITX3 promoter activity; may promote midbrain identity in embryonic stem cell-derived dopamine neurons by regulating PITX3. Negatively regulates the differentiation of T follicular helper cells T(FH)s. Involved in maintenance of hair follicle stem cell quiescence; the function probably involves regulation of FGF18 (By similarity). Represses transcription of various pro-apoptotic genes and cooperates with NF-kappa B-signaling in promoting B-cell expansion by inhibition of caspase-dependent apoptosis (PubMed:25267198). Binds to CSF1R promoter elements and is involved in regulation of monocyte differentiation and macrophage functions; repression of CSF1R in monocytes seems to involve NCOR2 as corepressor (PubMed:15286807, PubMed:18799727, PubMed:18347093). Involved in endothelial cell proliferation, tube formation and migration indicative for a role in angiogenesis; the role in neovascularization seems to implicate suppression of SEMA5B (PubMed:24023716). Can negatively regulate androgen receptor signaling (PubMed:18640093). Acts as a transcriptional activator of the FBXL7 promoter; this activity is regulated by AURKA (PubMed:28218735). {ECO:0000250|UniProtKB:P58462, ECO:0000269|PubMed:15286807, ECO:0000269|PubMed:18640093, ECO:0000269|PubMed:18799727, ECO:0000269|PubMed:24023716, ECO:0000269|PubMed:25267198, ECO:0000269|PubMed:26647308, ECO:0000269|PubMed:28218735, ECO:0000305|PubMed:18347093, ECO:0000305|PubMed:24023716}.; FUNCTION: [Isoform 8]: Involved in transcriptional regulation in embryonic stem cells (ESCs). Stimulates expression of transcription factors that are required for pluripotency and decreases expression of differentiation-associated genes. Has distinct DNA-binding specifities as compared to the canonical form and preferentially binds DNA with the sequence 5'-CGATACAA-3' (or closely related sequences) (PubMed:21924763). Promotes ESC self-renewal and pluripotency (By similarity). {ECO:0000250|UniProtKB:P58462, ECO:0000269|PubMed:21924763}.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.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneFOXP1chr3:71037145chr2:128941249ENST00000318789-142155_230382.0678.0Compositional biasNote=Gln-rich
HgeneFOXP1chr3:71037145chr2:128941249ENST00000475937-132055_230382.0678.0Compositional biasNote=Gln-rich
HgeneFOXP1chr3:71037145chr2:128941249ENST00000484350-91655_230306.0602.0Compositional biasNote=Gln-rich
HgeneFOXP1chr3:71037145chr2:128941249ENST00000493089-142155_230382.0677.0Compositional biasNote=Gln-rich
HgeneFOXP1chr3:71037145chr2:128941249ENST00000498215-101755_230382.0678.0Compositional biasNote=Gln-rich
HgeneFOXP1chr3:71037145chr2:128941249ENST00000318789-1421348_369382.0678.0RegionNote=Leucine-zipper
HgeneFOXP1chr3:71037145chr2:128941249ENST00000475937-1320348_369382.0678.0RegionNote=Leucine-zipper
HgeneFOXP1chr3:71037145chr2:128941249ENST00000493089-1421348_369382.0677.0RegionNote=Leucine-zipper
HgeneFOXP1chr3:71037145chr2:128941249ENST00000498215-1017348_369382.0678.0RegionNote=Leucine-zipper
HgeneFOXP1chr3:71037145chr2:128941249ENST00000318789-1421306_331382.0678.0Zinc fingerNote=C2H2-type
HgeneFOXP1chr3:71037145chr2:128941249ENST00000475937-1320306_331382.0678.0Zinc fingerNote=C2H2-type
HgeneFOXP1chr3:71037145chr2:128941249ENST00000493089-1421306_331382.0677.0Zinc fingerNote=C2H2-type
HgeneFOXP1chr3:71037145chr2:128941249ENST00000498215-1017306_331382.0678.0Zinc fingerNote=C2H2-type
TgeneUGGT1chr3:71037145chr2:128941249ENST0000025925336411552_15551414.66666666666671556.0MotifPrevents secretion from ER
TgeneUGGT1chr3:71037145chr2:128941249ENST0000037599036411552_15551390.66666666666671532.0MotifPrevents secretion from ER

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneFOXP1chr3:71037145chr2:128941249ENST00000318779-1755_2300115.0Compositional biasNote=Gln-rich
HgeneFOXP1chr3:71037145chr2:128941249ENST00000318779-17465_5550115.0DNA bindingFork-head
HgeneFOXP1chr3:71037145chr2:128941249ENST00000318789-1421465_555382.0678.0DNA bindingFork-head
HgeneFOXP1chr3:71037145chr2:128941249ENST00000475937-1320465_555382.0678.0DNA bindingFork-head
HgeneFOXP1chr3:71037145chr2:128941249ENST00000484350-916465_555306.0602.0DNA bindingFork-head
HgeneFOXP1chr3:71037145chr2:128941249ENST00000493089-1421465_555382.0677.0DNA bindingFork-head
HgeneFOXP1chr3:71037145chr2:128941249ENST00000498215-1017465_555382.0678.0DNA bindingFork-head
HgeneFOXP1chr3:71037145chr2:128941249ENST00000318779-17348_3690115.0RegionNote=Leucine-zipper
HgeneFOXP1chr3:71037145chr2:128941249ENST00000318779-17382_3860115.0RegionCTBP1-binding
HgeneFOXP1chr3:71037145chr2:128941249ENST00000318789-1421382_386382.0678.0RegionCTBP1-binding
HgeneFOXP1chr3:71037145chr2:128941249ENST00000475937-1320382_386382.0678.0RegionCTBP1-binding
HgeneFOXP1chr3:71037145chr2:128941249ENST00000484350-916348_369306.0602.0RegionNote=Leucine-zipper
HgeneFOXP1chr3:71037145chr2:128941249ENST00000484350-916382_386306.0602.0RegionCTBP1-binding
HgeneFOXP1chr3:71037145chr2:128941249ENST00000493089-1421382_386382.0677.0RegionCTBP1-binding
HgeneFOXP1chr3:71037145chr2:128941249ENST00000498215-1017382_386382.0678.0RegionCTBP1-binding
HgeneFOXP1chr3:71037145chr2:128941249ENST00000318779-17306_3310115.0Zinc fingerNote=C2H2-type
HgeneFOXP1chr3:71037145chr2:128941249ENST00000484350-916306_331306.0602.0Zinc fingerNote=C2H2-type
TgeneUGGT1chr3:71037145chr2:128941249ENST0000025925336411244_15551414.66666666666671556.0RegionGlucosyltransferase
TgeneUGGT1chr3:71037145chr2:128941249ENST0000037599036411244_15551390.66666666666671532.0RegionGlucosyltransferase


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Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)
PDB file >>>579_FOXP1_71037145_UGGT1_128941249_ranked_0.pdbFOXP17103714571037145ENST00000259253UGGT1chr2128941249+
MMQESGTETKSNGSAIQNGSGGSNHLLECGGLREGRSNGETPAVDIGAADLAHAQQQQQQALQVARQLLLQQQQQQQVSGLKSPKRNDKQ
PALQQQQVATQQLAFQQQLLQMQQLQQQHLLSLQRQGLLTIQPGQPALPLQPLAQGMIPTELQQLWKEVTSAHTAEETTGNNHSSLDLTT
TCVSSSAPSKTSLIMNPHASTNGQLSVHTPKRESLSHEEHPHSHPLYGHGVCKWPGCEAVCEDFQSFLKHLNSEHALDDRSTAQCRVQMQ
316


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pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
FOXP1_pLDDT.png
all structure
all structure
UGGT1_pLDDT.png
all structure
all structure

check button pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
all structure


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Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots

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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
FOXP1
UGGT1


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to FOXP1-UGGT1


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to FOXP1-UGGT1


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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