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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:ARHGEF28-BTF3

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ARHGEF28-BTF3
FusionPDB ID: 6275
FusionGDB2.0 ID: 73767
HgeneTgene
Gene symbol

ARHGEF28

BTF3

Gene ID

64283

10384

Gene nameRho guanine nucleotide exchange factor 28butyrophilin subfamily 3 member A3
SynonymsRGNEF|RIP2|p190RHOGEFBTF3|BTN3.3
Cytomap

5q13.2

6p22.2

Type of geneprotein-codingprotein-coding
Descriptionrho guanine nucleotide exchange factor 28190 kDa guanine nucleotide exchange factorRho guanine nucleotide exchange factor (GEF) 28Rho interacting protein 2p190-RhoGEFrho-guanine nucleotide exchange factorbutyrophilin subfamily 3 member A3butyrophilin 3butyrophilin subfamily 3 member A3 secreted isoform
Modification date2020031320200313
UniProtAcc

Q8N1W1

Q96K17

Ensembl transtripts involved in fusion geneENST idsENST00000287898, ENST00000296794, 
ENST00000426542, ENST00000437974, 
ENST00000513042, ENST00000545377, 
ENST00000296799, ENST00000512883, 
ENST00000513841, 
ENST00000380591, 
ENST00000514505, ENST00000335895, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score6 X 5 X 3=909 X 7 X 6=378
# samples 611
** MAII scorelog2(6/90*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/378*10)=-1.78088271069641
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ARHGEF28 [Title/Abstract] AND BTF3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ARHGEF28(72980709)-BTF3(72798313), # samples:3
Anticipated loss of major functional domain due to fusion event.ARHGEF28-BTF3 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.
ARHGEF28-BTF3 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.
ARHGEF28-BTF3 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.
ARHGEF28-BTF3 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.
* 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

check buttonFusion gene breakpoints across ARHGEF28 (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 BTF3 (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
ChimerDB4ESCATCGA-R6-A8W5ARHGEF28chr5

72980709

+BTF3chr5

72798313

+
ChimerDB4LUSCTCGA-22-4607ARHGEF28chr5

72980709

+BTF3chr5

72798313

+
ChimerDB4OVTCGA-29-1710-01AARHGEF28chr5

72980709

+BTF3chr5

72798313

+


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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)
ENST00000296794ARHGEF28chr572980709+ENST00000335895BTF3chr572798313+8862095628207
ENST00000287898ARHGEF28chr572980709+ENST00000335895BTF3chr572798313+8862095628207
ENST00000545377ARHGEF28chr572980709+ENST00000335895BTF3chr572798313+8862095628207
ENST00000513042ARHGEF28chr572980709+ENST00000335895BTF3chr572798313+8862095628207
ENST00000437974ARHGEF28chr572980709+ENST00000335895BTF3chr572798313+7305320472150
ENST00000426542ARHGEF28chr572980709+ENST00000335895BTF3chr572798313+7305320472150

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
ENST00000296794ENST00000335895ARHGEF28chr572980709+BTF3chr572798313+0.0022865420.99771345
ENST00000287898ENST00000335895ARHGEF28chr572980709+BTF3chr572798313+0.0022865420.99771345
ENST00000545377ENST00000335895ARHGEF28chr572980709+BTF3chr572798313+0.0022865420.99771345
ENST00000513042ENST00000335895ARHGEF28chr572980709+BTF3chr572798313+0.0022865420.99771345
ENST00000437974ENST00000335895ARHGEF28chr572980709+BTF3chr572798313+0.0023235810.99767643
ENST00000426542ENST00000335895ARHGEF28chr572980709+BTF3chr572798313+0.0023235810.99767643

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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

>6275_6275_1_ARHGEF28-BTF3_ARHGEF28_chr5_72980709_ENST00000287898_BTF3_chr5_72798313_ENST00000335895_length(amino acids)=207AA_BP=66
MASARPPPGVGIAGESLPDSGRRLAGGAFRGALRQGAGAEPRLGSGGCGAIAPDAKAMELSCSEAPLYGTARRKKKVVHRTATADDKKLQ
FSLKKLGVNNISGIEEVNMFTNQGTVIHFNNPKVQASLAANTFTITGHAETKQLTEMLPSILNQLGADSLTSLRRLAEALPKQSVDGKAP

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

>6275_6275_2_ARHGEF28-BTF3_ARHGEF28_chr5_72980709_ENST00000296794_BTF3_chr5_72798313_ENST00000335895_length(amino acids)=207AA_BP=66
MASARPPPGVGIAGESLPDSGRRLAGGAFRGALRQGAGAEPRLGSGGCGAIAPDAKAMELSCSEAPLYGTARRKKKVVHRTATADDKKLQ
FSLKKLGVNNISGIEEVNMFTNQGTVIHFNNPKVQASLAANTFTITGHAETKQLTEMLPSILNQLGADSLTSLRRLAEALPKQSVDGKAP

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

>6275_6275_3_ARHGEF28-BTF3_ARHGEF28_chr5_72980709_ENST00000426542_BTF3_chr5_72798313_ENST00000335895_length(amino acids)=150AA_BP=9
MELSCSEAPLYGTARRKKKVVHRTATADDKKLQFSLKKLGVNNISGIEEVNMFTNQGTVIHFNNPKVQASLAANTFTITGHAETKQLTEM

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

>6275_6275_4_ARHGEF28-BTF3_ARHGEF28_chr5_72980709_ENST00000437974_BTF3_chr5_72798313_ENST00000335895_length(amino acids)=150AA_BP=9
MELSCSEAPLYGTARRKKKVVHRTATADDKKLQFSLKKLGVNNISGIEEVNMFTNQGTVIHFNNPKVQASLAANTFTITGHAETKQLTEM

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

>6275_6275_5_ARHGEF28-BTF3_ARHGEF28_chr5_72980709_ENST00000513042_BTF3_chr5_72798313_ENST00000335895_length(amino acids)=207AA_BP=66
MASARPPPGVGIAGESLPDSGRRLAGGAFRGALRQGAGAEPRLGSGGCGAIAPDAKAMELSCSEAPLYGTARRKKKVVHRTATADDKKLQ
FSLKKLGVNNISGIEEVNMFTNQGTVIHFNNPKVQASLAANTFTITGHAETKQLTEMLPSILNQLGADSLTSLRRLAEALPKQSVDGKAP

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

>6275_6275_6_ARHGEF28-BTF3_ARHGEF28_chr5_72980709_ENST00000545377_BTF3_chr5_72798313_ENST00000335895_length(amino acids)=207AA_BP=66
MASARPPPGVGIAGESLPDSGRRLAGGAFRGALRQGAGAEPRLGSGGCGAIAPDAKAMELSCSEAPLYGTARRKKKVVHRTATADDKKLQ
FSLKKLGVNNISGIEEVNMFTNQGTVIHFNNPKVQASLAANTFTITGHAETKQLTEMLPSILNQLGADSLTSLRRLAEALPKQSVDGKAP

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

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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/chr5:72980709/chr5:72798313)
- 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
ARHGEF28

Q8N1W1

BTF3

Q96K17

FUNCTION: Functions as a RHOA-specific guanine nucleotide exchange factor regulating signaling pathways downstream of integrins and growth factor receptors. Functions in axonal branching, synapse formation and dendritic morphogenesis. Functions also in focal adhesion formation, cell motility and B-lymphocytes activation. May regulate NEFL expression and aggregation and play a role in apoptosis (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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneBTF3chr5:72980709chr5:72798313ENST0000033589516185_18823.0163.0Compositional biasNote=Poly-Asp
TgeneBTF3chr5:72980709chr5:72798313ENST0000038059116185_18867.0207.0Compositional biasNote=Poly-Asp
TgeneBTF3chr5:72980709chr5:72798313ENST000003358951682_14723.0163.0DomainNAC-A/B
TgeneBTF3chr5:72980709chr5:72798313ENST000003805911682_14767.0207.0DomainNAC-A/B

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000287898+2361488_152511.01688.0Coiled coilOntology_term=ECO:0000255
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000296794+2351488_152511.01652.0Coiled coilOntology_term=ECO:0000255
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000296799+1281488_152501393.0Coiled coilOntology_term=ECO:0000255
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000426542+1351488_152511.01706.0Coiled coilOntology_term=ECO:0000255
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000437974+1361488_152511.01732.0Coiled coilOntology_term=ECO:0000255
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000513042+2361488_152511.01706.0Coiled coilOntology_term=ECO:0000255
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000545377+2371488_152511.01732.0Coiled coilOntology_term=ECO:0000255
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000287898+2361086_118811.01688.0DomainPH
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000287898+236849_104411.01688.0DomainDH
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000296794+2351086_118811.01652.0DomainPH
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000296794+235849_104411.01652.0DomainDH
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000296799+1281086_118801393.0DomainPH
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000296799+128849_104401393.0DomainDH
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000426542+1351086_118811.01706.0DomainPH
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000426542+135849_104411.01706.0DomainDH
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000437974+1361086_118811.01732.0DomainPH
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000437974+136849_104411.01732.0DomainDH
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000513042+2361086_118811.01706.0DomainPH
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000513042+236849_104411.01706.0DomainDH
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000545377+2371086_118811.01732.0DomainPH
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000545377+237849_104411.01732.0DomainDH
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000287898+2361496_152711.01688.0RegionRNA-binding
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000296794+2351496_152711.01652.0RegionRNA-binding
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000296799+1281496_152701393.0RegionRNA-binding
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000426542+1351496_152711.01706.0RegionRNA-binding
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000437974+1361496_152711.01732.0RegionRNA-binding
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000513042+2361496_152711.01706.0RegionRNA-binding
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000545377+2371496_152711.01732.0RegionRNA-binding
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000287898+236652_69911.01688.0Zinc fingerPhorbol-ester/DAG-type
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000296794+235652_69911.01652.0Zinc fingerPhorbol-ester/DAG-type
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000296799+128652_69901393.0Zinc fingerPhorbol-ester/DAG-type
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000426542+135652_69911.01706.0Zinc fingerPhorbol-ester/DAG-type
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000437974+136652_69911.01732.0Zinc fingerPhorbol-ester/DAG-type
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000513042+236652_69911.01706.0Zinc fingerPhorbol-ester/DAG-type
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000545377+237652_69911.01732.0Zinc fingerPhorbol-ester/DAG-type


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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 >>>294_ARHGEF28_72980709_BTF3_72798313_ranked_0.pdbARHGEF287298070972980709ENST00000335895BTF3chr572798313+
MASARPPPGVGIAGESLPDSGRRLAGGAFRGALRQGAGAEPRLGSGGCGAIAPDAKAMELSCSEAPLYGTARRKKKVVHRTATADDKKLQ
FSLKKLGVNNISGIEEVNMFTNQGTVIHFNNPKVQASLAANTFTITGHAETKQLTEMLPSILNQLGADSLTSLRRLAEALPKQSVDGKAP
207


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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.
ARHGEF28_pLDDT.png
all structure
all structure
BTF3_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
ARHGEF28
BTF3


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
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000287898+2361425_170511.01688.0microtubules
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000296794+2351425_170511.01652.0microtubules
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000296799+1281425_170501393.0microtubules
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000426542+1351425_170511.01706.0microtubules
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000437974+1361425_170511.01732.0microtubules
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000513042+2361425_170511.01706.0microtubules
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000545377+2371425_170511.01732.0microtubules
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000287898+2361295_130411.01688.0PTK2/FAK1%3B required for regulation of axonal branching and synapse formation
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000296794+2351295_130411.01652.0PTK2/FAK1%3B required for regulation of axonal branching and synapse formation
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000296799+1281295_130401393.0PTK2/FAK1%3B required for regulation of axonal branching and synapse formation
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000426542+1351295_130411.01706.0PTK2/FAK1%3B required for regulation of axonal branching and synapse formation
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000437974+1361295_130411.01732.0PTK2/FAK1%3B required for regulation of axonal branching and synapse formation
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000513042+2361295_130411.01706.0PTK2/FAK1%3B required for regulation of axonal branching and synapse formation
HgeneARHGEF28chr5:72980709chr5:72798313ENST00000545377+2371295_130411.01732.0PTK2/FAK1%3B required for regulation of axonal branching and synapse formation


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Related Drugs to ARHGEF28-BTF3


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 ARHGEF28-BTF3


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