FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:BROX-MIA3 (FusionGDB2 ID:10375)

Fusion Gene Summary for BROX-MIA3

check button Fusion gene summary
Fusion gene informationFusion gene name: BROX-MIA3
Fusion gene ID: 10375
HgeneTgene
Gene symbol

BROX

MIA3

Gene ID

148362

375056

Gene nameBRO1 domain and CAAX motif containingMIA SH3 domain ER export factor 3
SynonymsC1orf58ARNT|D320|TANGO|TANGO1|UNQ6077
Cytomap

1q41

1q41

Type of geneprotein-codingprotein-coding
DescriptionBRO1 domain-containing protein BROXtransport and Golgi organization protein 1 homologC219-reactive peptideMIA family member 3, ER export factormelanoma inhibitory activity family, member 3melanoma inhibitory activity protein 3transport and Golgi organization protein 1
Modification date2020031320200313
UniProtAcc

Q5VW32

Q5JRA6

Ensembl transtripts involved in fusion geneENST00000340934, ENST00000496267, 
ENST00000537020, ENST00000539697, 
ENST00000344922, ENST00000344441, 
ENST00000344507, ENST00000340535, 
ENST00000470521, 
Fusion gene scores* DoF score3 X 3 X 3=274 X 5 X 3=60
# samples 35
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BROX [Title/Abstract] AND MIA3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBROX(222892373)-MIA3(222832064), # samples:1
Anticipated loss of major functional domain due to fusion event.BROX-MIA3 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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
TgeneMIA3

GO:0002687

positive regulation of leukocyte migration

17726152

TgeneMIA3

GO:0007162

negative regulation of cell adhesion

17726152

TgeneMIA3

GO:0030336

negative regulation of cell migration

17044017

TgeneMIA3

GO:0042060

wound healing

17044017


check buttonFusion gene breakpoints across BROX (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 MIA3 (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
ChimerDB4STADTCGA-HU-A4HB-01ABROXchr1

222892373

+MIA3chr1

222832064

+


Top

Fusion Gene ORF analysis for BROX-MIA3

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
Frame-shiftENST00000340934ENST00000344922BROXchr1

222892373

+MIA3chr1

222832064

+
Frame-shiftENST00000340934ENST00000344441BROXchr1

222892373

+MIA3chr1

222832064

+
5CDS-intronENST00000340934ENST00000344507BROXchr1

222892373

+MIA3chr1

222832064

+
5CDS-intronENST00000340934ENST00000340535BROXchr1

222892373

+MIA3chr1

222832064

+
5CDS-intronENST00000340934ENST00000470521BROXchr1

222892373

+MIA3chr1

222832064

+
intron-3CDSENST00000496267ENST00000344922BROXchr1

222892373

+MIA3chr1

222832064

+
intron-3CDSENST00000496267ENST00000344441BROXchr1

222892373

+MIA3chr1

222832064

+
intron-intronENST00000496267ENST00000344507BROXchr1

222892373

+MIA3chr1

222832064

+
intron-intronENST00000496267ENST00000340535BROXchr1

222892373

+MIA3chr1

222832064

+
intron-intronENST00000496267ENST00000470521BROXchr1

222892373

+MIA3chr1

222832064

+
Frame-shiftENST00000537020ENST00000344922BROXchr1

222892373

+MIA3chr1

222832064

+
Frame-shiftENST00000537020ENST00000344441BROXchr1

222892373

+MIA3chr1

222832064

+
5CDS-intronENST00000537020ENST00000344507BROXchr1

222892373

+MIA3chr1

222832064

+
5CDS-intronENST00000537020ENST00000340535BROXchr1

222892373

+MIA3chr1

222832064

+
5CDS-intronENST00000537020ENST00000470521BROXchr1

222892373

+MIA3chr1

222832064

+
Frame-shiftENST00000539697ENST00000344922BROXchr1

222892373

+MIA3chr1

222832064

+
Frame-shiftENST00000539697ENST00000344441BROXchr1

222892373

+MIA3chr1

222832064

+
5CDS-intronENST00000539697ENST00000344507BROXchr1

222892373

+MIA3chr1

222832064

+
5CDS-intronENST00000539697ENST00000340535BROXchr1

222892373

+MIA3chr1

222832064

+
5CDS-intronENST00000539697ENST00000470521BROXchr1

222892373

+MIA3chr1

222832064

+

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

Top

Fusion Genomic Features for BROX-MIA3


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)
BROXchr1222892373+MIA3chr1222832063+0.94701330.052986678
BROXchr1222892373+MIA3chr1222832063+0.94701330.052986678

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.

Top

Fusion Protein Features for BROX-MIA3


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
BROX

Q5VW32

MIA3

Q5JRA6

FUNCTION: Plays a role in the transport of cargos that are too large to fit into COPII-coated vesicles and require specific mechanisms to be incorporated into membrane-bound carriers and exported from the endoplasmic reticulum. This protein is required for collagen VII (COL7A1) secretion by loading COL7A1 into transport carriers. It may participate in cargo loading of COL7A1 at endoplasmic reticulum exit sites by binding to COPII coat subunits Sec23/24 and guiding SH3-bound COL7A1 into a growing carrier. Does not play a role in global protein secretion and is apparently specific to COL7A1 cargo loading. However, it may participate in secretion of other proteins in cells that do not secrete COL7A1. It is also specifically required for the secretion of lipoproteins by participating in their export from the endoplasmic reticulum (PubMed:27138255, PubMed:19269366). Required for correct assembly of COPII coat components at endoplasmic reticulum exit sites (ERES) and for the localization of SEC16A and membrane-bound ER-resident complexes consisting of MIA2 and PREB/SEC12 to ERES (PubMed:28442536). {ECO:0000269|PubMed:19269366, ECO:0000269|PubMed:27138255, ECO:0000269|PubMed:28442536}.

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


Top

Fusion Gene Sequence for BROX-MIA3


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.

Top

Fusion Gene PPI Analysis for BROX-MIA3


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


Top

Related Drugs for BROX-MIA3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for BROX-MIA3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMIA3C0010054Coronary Arteriosclerosis1CTD_human
TgeneMIA3C0027051Myocardial Infarction1CTD_human
TgeneMIA3C1956346Coronary Artery Disease1CTD_human