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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:BTF3-GGA1 (FusionGDB2 ID:10514)

Fusion Gene Summary for BTF3-GGA1

check button Fusion gene summary
Fusion gene informationFusion gene name: BTF3-GGA1
Fusion gene ID: 10514
HgeneTgene
Gene symbol

BTF3

GGA1

Gene ID

10384

26088

Gene namebutyrophilin subfamily 3 member A3golgi associated, gamma adaptin ear containing, ARF binding protein 1
SynonymsBTF3|BTN3.3-
Cytomap

6p22.2

22q13.1

Type of geneprotein-codingprotein-coding
Descriptionbutyrophilin subfamily 3 member A3butyrophilin 3butyrophilin subfamily 3 member A3 secreted isoformADP-ribosylation factor-binding protein GGA1ADP-ribosylation factor binding protein 1gamma-adaptin related protein 1golgi-localized, gamma ear-containing, ARF-binding protein 1
Modification date2020031320200313
UniProtAcc

P20290

Q9UJY5

Ensembl transtripts involved in fusion geneENST00000335895, ENST00000380591, 
ENST00000514505, 		ENST00000325180, 
ENST00000337437, ENST00000343632, 
ENST00000381756, ENST00000405147, 
ENST00000406772, ENST00000414350, 
ENST00000488672, 
Fusion gene scores* DoF score7 X 5 X 2=706 X 6 X 4=144
# samples 76
** MAII scorelog2(7/70*10)=0log2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BTF3 [Title/Abstract] AND GGA1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBTF3(72794748)-GGA1(38026981), # samples:3
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
TgeneGGA1

GO:0006886

intracellular protein transport

15886016

TgeneGGA1

GO:0008104

protein localization

15886016

TgeneGGA1

GO:0034394

protein localization to cell surface

27901063

TgeneGGA1

GO:0042147

retrograde transport, endosome to Golgi

15886016

TgeneGGA1

GO:0043001

Golgi to plasma membrane protein transport

27901063


check buttonFusion gene breakpoints across BTF3 (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 GGA1 (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/ABI562608BTF3chr5

72794748

+GGA1chr22

38026981

+
ChiTaRS5.0N/ABI562704BTF3chr5

72794748

+GGA1chr22

38026981

+
ChiTaRS5.0N/ADB454451BTF3chr5

72794748

+GGA1chr22

38026981

+


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Fusion Gene ORF analysis for BTF3-GGA1

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-intronENST00000335895ENST00000325180BTF3chr5

72794748

+GGA1chr22

38026981

+
intron-intronENST00000335895ENST00000337437BTF3chr5

72794748

+GGA1chr22

38026981

+
intron-intronENST00000335895ENST00000343632BTF3chr5

72794748

+GGA1chr22

38026981

+
intron-intronENST00000335895ENST00000381756BTF3chr5

72794748

+GGA1chr22

38026981

+
intron-intronENST00000335895ENST00000405147BTF3chr5

72794748

+GGA1chr22

38026981

+
intron-intronENST00000335895ENST00000406772BTF3chr5

72794748

+GGA1chr22

38026981

+
intron-intronENST00000335895ENST00000414350BTF3chr5

72794748

+GGA1chr22

38026981

+
intron-intronENST00000335895ENST00000488672BTF3chr5

72794748

+GGA1chr22

38026981

+
intron-intronENST00000380591ENST00000325180BTF3chr5

72794748

+GGA1chr22

38026981

+
intron-intronENST00000380591ENST00000337437BTF3chr5

72794748

+GGA1chr22

38026981

+
intron-intronENST00000380591ENST00000343632BTF3chr5

72794748

+GGA1chr22

38026981

+
intron-intronENST00000380591ENST00000381756BTF3chr5

72794748

+GGA1chr22

38026981

+
intron-intronENST00000380591ENST00000405147BTF3chr5

72794748

+GGA1chr22

38026981

+
intron-intronENST00000380591ENST00000406772BTF3chr5

72794748

+GGA1chr22

38026981

+
intron-intronENST00000380591ENST00000414350BTF3chr5

72794748

+GGA1chr22

38026981

+
intron-intronENST00000380591ENST00000488672BTF3chr5

72794748

+GGA1chr22

38026981

+
intron-intronENST00000514505ENST00000325180BTF3chr5

72794748

+GGA1chr22

38026981

+
intron-intronENST00000514505ENST00000337437BTF3chr5

72794748

+GGA1chr22

38026981

+
intron-intronENST00000514505ENST00000343632BTF3chr5

72794748

+GGA1chr22

38026981

+
intron-intronENST00000514505ENST00000381756BTF3chr5

72794748

+GGA1chr22

38026981

+
intron-intronENST00000514505ENST00000405147BTF3chr5

72794748

+GGA1chr22

38026981

+
intron-intronENST00000514505ENST00000406772BTF3chr5

72794748

+GGA1chr22

38026981

+
intron-intronENST00000514505ENST00000414350BTF3chr5

72794748

+GGA1chr22

38026981

+
intron-intronENST00000514505ENST00000488672BTF3chr5

72794748

+GGA1chr22

38026981

+

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 BTF3-GGA1


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 BTF3-GGA1


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/:72794748/:38026981)
- 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
BTF3

P20290

GGA1

Q9UJY5

FUNCTION: When associated with NACA, prevents inappropriate targeting of non-secretory polypeptides to the endoplasmic reticulum (ER). Binds to nascent polypeptide chains as they emerge from the ribosome and blocks their interaction with the signal recognition particle (SRP), which normally targets nascent secretory peptides to the ER. BTF3 is also a general transcription factor that can form a stable complex with RNA polymerase II. Required for the initiation of transcription. {ECO:0000269|PubMed:10982809}.FUNCTION: Plays a role in protein sorting and trafficking between the trans-Golgi network (TGN) and endosomes. Mediates the ARF-dependent recruitment of clathrin to the TGN and binds ubiquitinated proteins and membrane cargo molecules with a cytosolic acidic cluster-dileucine (DXXLL) motif (PubMed:11301005, PubMed:15886016). Mediates export of the GPCR receptor ADRA2B to the cell surface (PubMed:27901063). Required for targeting PKD1:PKD2 complex from the trans-Golgi network to the cilium membrane (By similarity). Regulates retrograde transport of proteins such as phosphorylated form of BACE1 from endosomes to the trans-Golgi network (PubMed:15886016, PubMed:15615712). {ECO:0000250|UniProtKB:Q8R0H9, ECO:0000269|PubMed:11301005, ECO:0000269|PubMed:15615712, ECO:0000269|PubMed:15886016, ECO:0000269|PubMed:27901063}.

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 BTF3-GGA1


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 BTF3-GGA1


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 BTF3-GGA1


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 BTF3-GGA1


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