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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:BRD1-MLC1 (FusionGDB2 ID:10169)

Fusion Gene Summary for BRD1-MLC1

check button Fusion gene summary
Fusion gene informationFusion gene name: BRD1-MLC1
Fusion gene ID: 10169
HgeneTgene
Gene symbol

BRD1

MLC1

Gene ID

23774

23209

Gene namebromodomain containing 1modulator of VRAC current 1
SynonymsBRL|BRPF1|BRPF2LVM|MLC|VL
Cytomap

22q13.33

22q13.33

Type of geneprotein-codingprotein-coding
Descriptionbromodomain-containing protein 1BR140-like proteinbromodomain and PHD finger-containing protein 2membrane protein MLC1megalencephalic leukoencephalopathy with subcortical cysts 1
Modification date2020032720200313
UniProtAcc

O95696

Q15049

Ensembl transtripts involved in fusion geneENST00000216267, ENST00000342989, 
ENST00000404034, ENST00000404760, 
ENST00000457780, ENST00000542442, 
ENST00000459821, 
ENST00000311597, 
ENST00000395876, ENST00000431262, 
ENST00000450140, ENST00000538737, 
ENST00000483836, ENST00000535444, 
Fusion gene scores* DoF score7 X 7 X 6=2943 X 3 X 3=27
# samples 83
** MAII scorelog2(8/294*10)=-1.877744249949
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: BRD1 [Title/Abstract] AND MLC1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBRD1(50187682)-MLC1(50523390), # 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
HgeneBRD1

GO:0043966

histone H3 acetylation

16387653

TgeneMLC1

GO:0032388

positive regulation of intracellular transport

19931615


check buttonFusion gene breakpoints across BRD1 (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 MLC1 (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
ChimerDB4LUADTCGA-44-7660-01ABRD1chr22

50187682

-MLC1chr22

50523390

-


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Fusion Gene ORF analysis for BRD1-MLC1

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
5CDS-5UTRENST00000216267ENST00000311597BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-5UTRENST00000216267ENST00000395876BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-5UTRENST00000216267ENST00000431262BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-5UTRENST00000216267ENST00000450140BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-5UTRENST00000216267ENST00000538737BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-5UTRENST00000342989ENST00000311597BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-5UTRENST00000342989ENST00000395876BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-5UTRENST00000342989ENST00000431262BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-5UTRENST00000342989ENST00000450140BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-5UTRENST00000342989ENST00000538737BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-5UTRENST00000404034ENST00000311597BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-5UTRENST00000404034ENST00000395876BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-5UTRENST00000404034ENST00000431262BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-5UTRENST00000404034ENST00000450140BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-5UTRENST00000404034ENST00000538737BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-5UTRENST00000404760ENST00000311597BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-5UTRENST00000404760ENST00000395876BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-5UTRENST00000404760ENST00000431262BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-5UTRENST00000404760ENST00000450140BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-5UTRENST00000404760ENST00000538737BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-5UTRENST00000457780ENST00000311597BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-5UTRENST00000457780ENST00000395876BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-5UTRENST00000457780ENST00000431262BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-5UTRENST00000457780ENST00000450140BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-5UTRENST00000457780ENST00000538737BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-5UTRENST00000542442ENST00000311597BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-5UTRENST00000542442ENST00000395876BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-5UTRENST00000542442ENST00000431262BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-5UTRENST00000542442ENST00000450140BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-5UTRENST00000542442ENST00000538737BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-intronENST00000216267ENST00000483836BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-intronENST00000216267ENST00000535444BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-intronENST00000342989ENST00000483836BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-intronENST00000342989ENST00000535444BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-intronENST00000404034ENST00000483836BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-intronENST00000404034ENST00000535444BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-intronENST00000404760ENST00000483836BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-intronENST00000404760ENST00000535444BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-intronENST00000457780ENST00000483836BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-intronENST00000457780ENST00000535444BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-intronENST00000542442ENST00000483836BRD1chr22

50187682

-MLC1chr22

50523390

-
5CDS-intronENST00000542442ENST00000535444BRD1chr22

50187682

-MLC1chr22

50523390

-
intron-5UTRENST00000459821ENST00000311597BRD1chr22

50187682

-MLC1chr22

50523390

-
intron-5UTRENST00000459821ENST00000395876BRD1chr22

50187682

-MLC1chr22

50523390

-
intron-5UTRENST00000459821ENST00000431262BRD1chr22

50187682

-MLC1chr22

50523390

-
intron-5UTRENST00000459821ENST00000450140BRD1chr22

50187682

-MLC1chr22

50523390

-
intron-5UTRENST00000459821ENST00000538737BRD1chr22

50187682

-MLC1chr22

50523390

-
intron-intronENST00000459821ENST00000483836BRD1chr22

50187682

-MLC1chr22

50523390

-
intron-intronENST00000459821ENST00000535444BRD1chr22

50187682

-MLC1chr22

50523390

-

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 BRD1-MLC1


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 BRD1-MLC1


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/:50187682/:50523390)
- 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
BRD1

O95696

MLC1

Q15049

FUNCTION: Scaffold subunit of various histone acetyltransferase (HAT) complexes, such as the MOZ/MORF and HBO1 complexes, that acts as a regulator of hematopoiesis (PubMed:16387653, PubMed:21753189, PubMed:21880731). Plays a key role in HBO1 complex by directing KAT7/HBO1 specificity towards histone H3 'Lys-14' acetylation (H3K14ac), thereby promoting erythroid differentiation (PubMed:21753189). {ECO:0000269|PubMed:16387653, ECO:0000269|PubMed:21753189, ECO:0000269|PubMed:21880731}.FUNCTION: Regulates the response of astrocytes to hypo-osmosis by promoting calcium influx. {ECO:0000269|PubMed:22328087}.

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 BRD1-MLC1


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 BRD1-MLC1


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 BRD1-MLC1


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 BRD1-MLC1


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