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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:BRCA1-BECN1 (FusionGDB2 ID:10207)

Fusion Gene Summary for BRCA1-BECN1

check button Fusion gene summary
Fusion gene informationFusion gene name: BRCA1-BECN1
Fusion gene ID: 10207
HgeneTgene
Gene symbol

BRCA1

BECN1

Gene ID

672

8678

Gene nameBRCA1 DNA repair associatedbeclin 1
SynonymsBRCAI|BRCC1|BROVCA1|FANCS|IRIS|PNCA4|PPP1R53|PSCP|RNF53ATG6|VPS30|beclin1
Cytomap

17q21.31

17q21.31

Type of geneprotein-codingprotein-coding
Descriptionbreast cancer type 1 susceptibility proteinBRCA1/BRCA2-containing complex, subunit 1Fanconi anemia, complementation group SRING finger protein 53breast and ovarian cancer susceptibility protein 1breast cancer 1, early onsetearly onset breast cancer beclin-1ATG6 autophagy related 6 homologbeclin 1 (coiled-coil, moesin-like BCL2-interacting protein)beclin 1, autophagy relatedcoiled-coil myosin-like BCL2-interacting proteintestis secretory sperm-binding protein Li 215e
Modification date2020032920200327
UniProtAcc

P38398

Q14457

Ensembl transtripts involved in fusion geneENST00000357654, ENST00000351666, 
ENST00000309486, ENST00000346315, 
ENST00000354071, ENST00000352993, 
ENST00000468300, ENST00000591534, 
ENST00000591849, ENST00000586385, 
ENST00000493795, ENST00000471181, 
ENST00000491747, 		ENST00000361523, 
ENST00000590099, ENST00000438274, 
Fusion gene scores* DoF score9 X 8 X 7=5044 X 3 X 4=48
# samples 94
** MAII scorelog2(9/504*10)=-2.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BRCA1 [Title/Abstract] AND BECN1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBRCA1(41209069)-BECN1(40968072), # samples:2
Anticipated loss of major functional domain due to fusion event.BRCA1-BECN1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
BRCA1-BECN1 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
BRCA1-BECN1 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
BRCA1-BECN1 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
HgeneBRCA1

GO:0000724

double-strand break repair via homologous recombination

17349954

HgeneBRCA1

GO:0006301

postreplication repair

17349954

HgeneBRCA1

GO:0006302

double-strand break repair

22186889

HgeneBRCA1

GO:0008630

intrinsic apoptotic signaling pathway in response to DNA damage

14654789

HgeneBRCA1

GO:0016567

protein ubiquitination

17349954

HgeneBRCA1

GO:0031398

positive regulation of protein ubiquitination

15965487

HgeneBRCA1

GO:0035066

positive regulation of histone acetylation

20820192

HgeneBRCA1

GO:0043627

response to estrogen

8895509

HgeneBRCA1

GO:0045892

negative regulation of transcription, DNA-templated

16288014

HgeneBRCA1

GO:0045893

positive regulation of transcription, DNA-templated

20160719

HgeneBRCA1

GO:0045944

positive regulation of transcription by RNA polymerase II

16331276

HgeneBRCA1

GO:0051571

positive regulation of histone H3-K4 methylation

20820192

HgeneBRCA1

GO:0051573

negative regulation of histone H3-K9 methylation

20820192

HgeneBRCA1

GO:0051865

protein autoubiquitination

12890688|20351172

HgeneBRCA1

GO:0070512

positive regulation of histone H4-K20 methylation

20820192

HgeneBRCA1

GO:0071158

positive regulation of cell cycle arrest

21102443

HgeneBRCA1

GO:0071681

cellular response to indole-3-methanol

10868478

HgeneBRCA1

GO:0085020

protein K6-linked ubiquitination

12890688|20351172

HgeneBRCA1

GO:2000617

positive regulation of histone H3-K9 acetylation

20820192

HgeneBRCA1

GO:2000620

positive regulation of histone H4-K16 acetylation

20820192

TgeneBECN1

GO:0006914

autophagy

23629966


check buttonFusion gene breakpoints across BRCA1 (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 BECN1 (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
ChimerDB4LIHCTCGA-CC-5263-01ABRCA1chr17

41209069

-BECN1chr17

40968072

-
ChimerDB4LIHCTCGA-CC-5263-01ABRCA1chr17

41209069

-BECN1chr17

40968072

-


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Fusion Gene ORF analysis for BRCA1-BECN1

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-shiftENST00000357654ENST00000361523BRCA1chr17

41209069

-BECN1chr17

40968072

-
Frame-shiftENST00000357654ENST00000590099BRCA1chr17

41209069

-BECN1chr17

40968072

-
Frame-shiftENST00000357654ENST00000438274BRCA1chr17

41209069

-BECN1chr17

40968072

-
Frame-shiftENST00000351666ENST00000361523BRCA1chr17

41209069

-BECN1chr17

40968072

-
Frame-shiftENST00000351666ENST00000590099BRCA1chr17

41209069

-BECN1chr17

40968072

-
Frame-shiftENST00000351666ENST00000438274BRCA1chr17

41209069

-BECN1chr17

40968072

-
Frame-shiftENST00000309486ENST00000361523BRCA1chr17

41209069

-BECN1chr17

40968072

-
Frame-shiftENST00000309486ENST00000590099BRCA1chr17

41209069

-BECN1chr17

40968072

-
Frame-shiftENST00000309486ENST00000438274BRCA1chr17

41209069

-BECN1chr17

40968072

-
Frame-shiftENST00000346315ENST00000361523BRCA1chr17

41209069

-BECN1chr17

40968072

-
Frame-shiftENST00000346315ENST00000590099BRCA1chr17

41209069

-BECN1chr17

40968072

-
Frame-shiftENST00000346315ENST00000438274BRCA1chr17

41209069

-BECN1chr17

40968072

-
Frame-shiftENST00000354071ENST00000361523BRCA1chr17

41209069

-BECN1chr17

40968072

-
Frame-shiftENST00000354071ENST00000590099BRCA1chr17

41209069

-BECN1chr17

40968072

-
Frame-shiftENST00000354071ENST00000438274BRCA1chr17

41209069

-BECN1chr17

40968072

-
Frame-shiftENST00000352993ENST00000361523BRCA1chr17

41209069

-BECN1chr17

40968072

-
Frame-shiftENST00000352993ENST00000590099BRCA1chr17

41209069

-BECN1chr17

40968072

-
Frame-shiftENST00000352993ENST00000438274BRCA1chr17

41209069

-BECN1chr17

40968072

-
Frame-shiftENST00000468300ENST00000361523BRCA1chr17

41209069

-BECN1chr17

40968072

-
Frame-shiftENST00000468300ENST00000590099BRCA1chr17

41209069

-BECN1chr17

40968072

-
Frame-shiftENST00000468300ENST00000438274BRCA1chr17

41209069

-BECN1chr17

40968072

-
In-frameENST00000591534ENST00000361523BRCA1chr17

41209069

-BECN1chr17

40968072

-
In-frameENST00000591534ENST00000590099BRCA1chr17

41209069

-BECN1chr17

40968072

-
In-frameENST00000591534ENST00000438274BRCA1chr17

41209069

-BECN1chr17

40968072

-
intron-3CDSENST00000591849ENST00000361523BRCA1chr17

41209069

-BECN1chr17

40968072

-
intron-3CDSENST00000591849ENST00000590099BRCA1chr17

41209069

-BECN1chr17

40968072

-
intron-3CDSENST00000591849ENST00000438274BRCA1chr17

41209069

-BECN1chr17

40968072

-
Frame-shiftENST00000586385ENST00000361523BRCA1chr17

41209069

-BECN1chr17

40968072

-
Frame-shiftENST00000586385ENST00000590099BRCA1chr17

41209069

-BECN1chr17

40968072

-
Frame-shiftENST00000586385ENST00000438274BRCA1chr17

41209069

-BECN1chr17

40968072

-
Frame-shiftENST00000493795ENST00000361523BRCA1chr17

41209069

-BECN1chr17

40968072

-
Frame-shiftENST00000493795ENST00000590099BRCA1chr17

41209069

-BECN1chr17

40968072

-
Frame-shiftENST00000493795ENST00000438274BRCA1chr17

41209069

-BECN1chr17

40968072

-
Frame-shiftENST00000471181ENST00000361523BRCA1chr17

41209069

-BECN1chr17

40968072

-
Frame-shiftENST00000471181ENST00000590099BRCA1chr17

41209069

-BECN1chr17

40968072

-
Frame-shiftENST00000471181ENST00000438274BRCA1chr17

41209069

-BECN1chr17

40968072

-
Frame-shiftENST00000491747ENST00000361523BRCA1chr17

41209069

-BECN1chr17

40968072

-
Frame-shiftENST00000491747ENST00000590099BRCA1chr17

41209069

-BECN1chr17

40968072

-
Frame-shiftENST00000491747ENST00000438274BRCA1chr17

41209069

-BECN1chr17

40968072

-

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)
ENST00000591534BRCA1chr1741209069-ENST00000361523BECN1chr1740968072-2148852102872256
ENST00000591534BRCA1chr1741209069-ENST00000590099BECN1chr1740968072-2145852102872256
ENST00000591534BRCA1chr1741209069-ENST00000438274BECN1chr1740968072-1831852102872256

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
ENST00000591534ENST00000361523BRCA1chr1741209069-BECN1chr1740968072-0.0010188730.99898106
ENST00000591534ENST00000590099BRCA1chr1741209069-BECN1chr1740968072-0.0010175290.9989825
ENST00000591534ENST00000438274BRCA1chr1741209069-BECN1chr1740968072-0.0010252170.9989748

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Fusion Genomic Features for BRCA1-BECN1


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 BRCA1-BECN1


check button Go to

FGviewer for the breakpoints of chr17:41209069-chr17:40968072

.
- 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
BRCA1

P38398

BECN1

Q14457

FUNCTION: E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage (PubMed:12890688, PubMed:14976165, PubMed:16818604, PubMed:17525340, PubMed:12887909, PubMed:10500182, PubMed:19261748). It is unclear whether it also mediates the formation of other types of polyubiquitin chains (PubMed:12890688). The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability (PubMed:12890688, PubMed:14976165, PubMed:20351172). Regulates centrosomal microtubule nucleation (PubMed:18056443). Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle (PubMed:10724175, PubMed:12183412, PubMed:11836499, PubMed:19261748). Required for FANCD2 targeting to sites of DNA damage (PubMed:12887909). Inhibits lipid synthesis by binding to inactive phosphorylated ACACA and preventing its dephosphorylation (PubMed:16326698). Contributes to homologous recombination repair (HRR) via its direct interaction with PALB2, fine-tunes recombinational repair partly through its modulatory role in the PALB2-dependent loading of BRCA2-RAD51 repair machinery at DNA breaks (PubMed:19369211). Component of the BRCA1-RBBP8 complex which regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage via BRCA1-mediated ubiquitination of RBBP8 (PubMed:16818604). Acts as a transcriptional activator (PubMed:20160719). {ECO:0000269|PubMed:10500182, ECO:0000269|PubMed:10724175, ECO:0000269|PubMed:11836499, ECO:0000269|PubMed:12183412, ECO:0000269|PubMed:12887909, ECO:0000269|PubMed:12890688, ECO:0000269|PubMed:14976165, ECO:0000269|PubMed:16326698, ECO:0000269|PubMed:16818604, ECO:0000269|PubMed:17525340, ECO:0000269|PubMed:18056443, ECO:0000269|PubMed:19261748, ECO:0000269|PubMed:19369211, ECO:0000269|PubMed:20160719, ECO:0000269|PubMed:20351172}.FUNCTION: Plays a central role in autophagy (PubMed:23184933, PubMed:28445460). Acts as core subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis. Involved in regulation of degradative endocytic trafficking and required for the abcission step in cytokinesis, probably in the context of PI3KC3-C2 (PubMed:20643123, PubMed:20208530, PubMed:26783301). Essential for the formation of PI3KC3-C2 but not PI3KC3-C1 PI3K complex forms. Involved in endocytosis (PubMed:25275521). Protects against infection by a neurovirulent strain of Sindbis virus (PubMed:9765397). May play a role in antiviral host defense. {ECO:0000269|PubMed:20208530, ECO:0000269|PubMed:20643123, ECO:0000269|PubMed:23184933, ECO:0000269|PubMed:25275521, ECO:0000269|PubMed:26783301, ECO:0000269|PubMed:28445460, ECO:0000269|PubMed:9765397, ECO:0000305}.; FUNCTION: Beclin-1-C 35 kDa localized to mitochondria can promote apoptosis; it induces the mitochondrial translocation of BAX and the release of proapoptotic factors. {ECO:0000269|PubMed:21364619, ECO:0000269|PubMed:26263979}.

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
HgeneBRCA1chr17:41209069chr17:40968072ENST00000357654-1923651_6541759.01864.0Compositional biasNote=Poly-Lys
HgeneBRCA1chr17:41209069chr17:40968072ENST00000468300-1922651_654655.0700.0Compositional biasNote=Poly-Lys
HgeneBRCA1chr17:41209069chr17:40968072ENST00000491747-1923651_654655.0760.0Compositional biasNote=Poly-Lys
HgeneBRCA1chr17:41209069chr17:40968072ENST00000357654-19231642_17361759.01864.0DomainBRCT 1
HgeneBRCA1chr17:41209069chr17:40968072ENST00000352993-182224_65617.0722.0Zinc fingerRING-type
HgeneBRCA1chr17:41209069chr17:40968072ENST00000357654-192324_651759.01864.0Zinc fingerRING-type
HgeneBRCA1chr17:41209069chr17:40968072ENST00000468300-192224_65655.0700.0Zinc fingerRING-type
HgeneBRCA1chr17:41209069chr17:40968072ENST00000491747-192324_65655.0760.0Zinc fingerRING-type
TgeneBECN1chr17:41209069chr17:40968072ENST00000361523612245_450227.66666666666666451.0RegionEvolutionary conserved domain (ECD)
TgeneBECN1chr17:41209069chr17:40968072ENST00000361523612425_450227.66666666666666451.0RegionRequired for membrane-association
TgeneBECN1chr17:41209069chr17:40968072ENST00000590099612245_450227.66666666666666451.0RegionEvolutionary conserved domain (ECD)
TgeneBECN1chr17:41209069chr17:40968072ENST00000590099612425_450227.66666666666666451.0RegionRequired for membrane-association

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBRCA1chr17:41209069chr17:40968072ENST00000352993-1822651_654617.0722.0Compositional biasNote=Poly-Lys
HgeneBRCA1chr17:41209069chr17:40968072ENST00000352993-18221642_1736617.0722.0DomainBRCT 1
HgeneBRCA1chr17:41209069chr17:40968072ENST00000352993-18221756_1855617.0722.0DomainBRCT 2
HgeneBRCA1chr17:41209069chr17:40968072ENST00000357654-19231756_18551759.01864.0DomainBRCT 2
HgeneBRCA1chr17:41209069chr17:40968072ENST00000468300-19221642_1736655.0700.0DomainBRCT 1
HgeneBRCA1chr17:41209069chr17:40968072ENST00000468300-19221756_1855655.0700.0DomainBRCT 2
HgeneBRCA1chr17:41209069chr17:40968072ENST00000491747-19231642_1736655.0760.0DomainBRCT 1
HgeneBRCA1chr17:41209069chr17:40968072ENST00000491747-19231756_1855655.0760.0DomainBRCT 2
TgeneBECN1chr17:41209069chr17:40968072ENST00000361523612142_270227.66666666666666451.0Coiled coilOntology_term=ECO:0000255
TgeneBECN1chr17:41209069chr17:40968072ENST00000590099612142_270227.66666666666666451.0Coiled coilOntology_term=ECO:0000255
TgeneBECN1chr17:41209069chr17:40968072ENST00000361523612108_127227.66666666666666451.0MotifNote=BH3
TgeneBECN1chr17:41209069chr17:40968072ENST00000590099612108_127227.66666666666666451.0MotifNote=BH3


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Fusion Gene Sequence for BRCA1-BECN1


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.
>In-frame_ENST00000591534_ENST00000361523_TCGA-CC-5263-01A_BRCA1_chr17_41209069_-_BECN1_chr17_40968072_length(transcript)=2148nt_BP=852nt
TTTCTCAGATAACTGGGCCCCTGCGCTCAGGAGGCCTTCACCCTCTGCTCTGGGTAAAGGTCATCCCCTTCTAAATGCCCATCATTAGAT
GATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAG
GAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGAGGGAACCCCTTACCTGGAA
TCTGGAATCAGCCTCTTCTCTGATGACCCTGAATCTGATCCTTCTGAAGACAGAGCCCCAGAGTCAGCTCGTGTTGGCAACATACCATCT
TCAACCTCTGCATTGAAAGTTCCCCAATTGAAAGTTGCAGAATCTGCCCAGAGTCCAGCTGCTGCTCATACTACTGATACTGCTGGGTAT
AATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACAAAAGAATGTCCATGGTGGTGTCT
GGCCTGACCCCAGAAGAATTTATGCTCGTGTACAAGTTTGCCAGAAAACACCACATCACTTTAACTAATCTAATTACTGAAGAGACTACT
CATGTTGTTATGAAAACAGATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGC
TATTTCTGGGTGACCCAGTCTATTAAAGAAAGAAAAATGCTGAATGAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAAC
CACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGGTATCAGAGAGAATACAGTGAATTTAAACGACAGCAGCTGGAGCTGGA
TGATGAGCTGAAGAGTGTTGAAAACCAGATGCGTTATGCCCAGACGCAGCTGGATAAGCTGAAGAAAACCAACGTCTTTAATGCAACCTT
CCACATCTGGCACAGTGGACAGTTTGGCACAATCAATAACTTCAGGCTGGGTCGCCTGCCCAGTGTTCCCGTGGAATGGAATGAGATTAA
TGCTGCTTGGGGCCAGACTGTGTTGCTGCTCCATGCTCTGGCCAATAAGATGGGTCTGAAATTTCAGAGATACCGACTTGTTCCTTACGG
AAACCATTCATATCTGGAGTCTCTGACAGACAAATCTAAGGAGCTGCCGTTATACTGTTCTGGGGGGTTGCGGTTTTTCTGGGACAACAA
GTTTGACCATGCAATGGTGGCTTTCCTGGACTGTGTGCAGCAGTTCAAAGAAGAGGTTGAGAAAGGCGAGACACGTTTTTGTCTTCCCTA
CAGGATGGATGTGGAGAAAGGCAAGATTGAAGACACAGGAGGCAGTGGCGGCTCCTATTCCATCAAAACCCAGTTTAACTCTGAGGAGCA
GTGGACAAAAGCTCTCAAGTTCATGCTGACGAATCTTAAGTGGGGTCTTGCTTGGGTGTCCTCACAATTTTATAACAAATGACTTTTTTC
CTTAGGGGGAGGTTTGCCTTAAAGGCTTTTAATTTTGTTTTGTTTGCAAACATGTTTTAAATTAAATTCGGGTAATATTAAACAGTACAT
GTTTACAATACCAAAAAAGAAAAAATCCACAAAAGCCACTTTATTTTAAAATATCATGTGACAGATACTTTCCAGAGCTACAACATGCCA
TCTATAGTTGCCAGCCCTGGTCAGTTTTGATTCTTAACCCCATGGACTCCTTTCCCTTTCTTCTCTGAAAAAAACTAATTTAAATTTGCT
TTTCTTTTTTTTAACTGAGTTGAATTGAGATTGATGTGTTTTCACTGGATTTTTATCTCTCTCAACTTCCTGCACTTAACAATATGAAAT
AGAAACTTTTGTCTTTACTGAGATGAGGATATGTTTGAGATGCACAGTTGGATAATGTGGGAAAATGACATCTAAGCTTTACCTGGTCAC
CATGTGATGTGATCAGATGCTTGAAATTTAACACTTTTCACTTGGTTCTTATACTGAATGCCGACTCTGCTCTGTGTTAGAGATATGAAA

>In-frame_ENST00000591534_ENST00000361523_TCGA-CC-5263-01A_BRCA1_chr17_41209069_-_BECN1_chr17_40968072_length(amino acids)=256AA_start in transcript=102_stop in transcript=872
MHSCSGSLQNRNYPSQEELIKVVDVEEQQLEESGPHDLTETSYLPRQDLEGTPYLESGISLFSDDPESDPSEDRAPESARVGNIPSSTSA
LKVPQLKVAESAQSPAAAHTTDTAGYNAMEESVSREKPELTASTERVNKRMSMVVSGLTPEEFMLVYKFARKHHITLTNLITEETTHVVM

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>In-frame_ENST00000591534_ENST00000590099_TCGA-CC-5263-01A_BRCA1_chr17_41209069_-_BECN1_chr17_40968072_length(transcript)=2145nt_BP=852nt
TTTCTCAGATAACTGGGCCCCTGCGCTCAGGAGGCCTTCACCCTCTGCTCTGGGTAAAGGTCATCCCCTTCTAAATGCCCATCATTAGAT
GATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAG
GAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGAGGGAACCCCTTACCTGGAA
TCTGGAATCAGCCTCTTCTCTGATGACCCTGAATCTGATCCTTCTGAAGACAGAGCCCCAGAGTCAGCTCGTGTTGGCAACATACCATCT
TCAACCTCTGCATTGAAAGTTCCCCAATTGAAAGTTGCAGAATCTGCCCAGAGTCCAGCTGCTGCTCATACTACTGATACTGCTGGGTAT
AATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACAAAAGAATGTCCATGGTGGTGTCT
GGCCTGACCCCAGAAGAATTTATGCTCGTGTACAAGTTTGCCAGAAAACACCACATCACTTTAACTAATCTAATTACTGAAGAGACTACT
CATGTTGTTATGAAAACAGATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGC
TATTTCTGGGTGACCCAGTCTATTAAAGAAAGAAAAATGCTGAATGAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAAC
CACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGGTATCAGAGAGAATACAGTGAATTTAAACGACAGCAGCTGGAGCTGGA
TGATGAGCTGAAGAGTGTTGAAAACCAGATGCGTTATGCCCAGACGCAGCTGGATAAGCTGAAGAAAACCAACGTCTTTAATGCAACCTT
CCACATCTGGCACAGTGGACAGTTTGGCACAATCAATAACTTCAGGCTGGGTCGCCTGCCCAGTGTTCCCGTGGAATGGAATGAGATTAA
TGCTGCTTGGGGCCAGACTGTGTTGCTGCTCCATGCTCTGGCCAATAAGATGGGTCTGAAATTTCAGAGATACCGACTTGTTCCTTACGG
AAACCATTCATATCTGGAGTCTCTGACAGACAAATCTAAGGAGCTGCCGTTATACTGTTCTGGGGGGTTGCGGTTTTTCTGGGACAACAA
GTTTGACCATGCAATGGTGGCTTTCCTGGACTGTGTGCAGCAGTTCAAAGAAGAGGTTGAGAAAGGCGAGACACGTTTTTGTCTTCCCTA
CAGGATGGATGTGGAGAAAGGCAAGATTGAAGACACAGGAGGCAGTGGCGGCTCCTATTCCATCAAAACCCAGTTTAACTCTGAGGAGCA
GTGGACAAAAGCTCTCAAGTTCATGCTGACGAATCTTAAGTGGGGTCTTGCTTGGGTGTCCTCACAATTTTATAACAAATGACTTTTTTC
CTTAGGGGGAGGTTTGCCTTAAAGGCTTTTAATTTTGTTTTGTTTGCAAACATGTTTTAAATTAAATTCGGGTAATATTAAACAGTACAT
GTTTACAATACCAAAAAAGAAAAAATCCACAAAAGCCACTTTATTTTAAAATATCATGTGACAGATACTTTCCAGAGCTACAACATGCCA
TCTATAGTTGCCAGCCCTGGTCAGTTTTGATTCTTAACCCCATGGACTCCTTTCCCTTTCTTCTCTGAAAAAAACTAATTTAAATTTGCT
TTTCTTTTTTTTAACTGAGTTGAATTGAGATTGATGTGTTTTCACTGGATTTTTATCTCTCTCAACTTCCTGCACTTAACAATATGAAAT
AGAAACTTTTGTCTTTACTGAGATGAGGATATGTTTGAGATGCACAGTTGGATAATGTGGGAAAATGACATCTAAGCTTTACCTGGTCAC
CATGTGATGTGATCAGATGCTTGAAATTTAACACTTTTCACTTGGTTCTTATACTGAATGCCGACTCTGCTCTGTGTTAGAGATATGAAA

>In-frame_ENST00000591534_ENST00000590099_TCGA-CC-5263-01A_BRCA1_chr17_41209069_-_BECN1_chr17_40968072_length(amino acids)=256AA_start in transcript=102_stop in transcript=872
MHSCSGSLQNRNYPSQEELIKVVDVEEQQLEESGPHDLTETSYLPRQDLEGTPYLESGISLFSDDPESDPSEDRAPESARVGNIPSSTSA
LKVPQLKVAESAQSPAAAHTTDTAGYNAMEESVSREKPELTASTERVNKRMSMVVSGLTPEEFMLVYKFARKHHITLTNLITEETTHVVM

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>In-frame_ENST00000591534_ENST00000438274_TCGA-CC-5263-01A_BRCA1_chr17_41209069_-_BECN1_chr17_40968072_length(transcript)=1831nt_BP=852nt
TTTCTCAGATAACTGGGCCCCTGCGCTCAGGAGGCCTTCACCCTCTGCTCTGGGTAAAGGTCATCCCCTTCTAAATGCCCATCATTAGAT
GATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAG
GAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGAGGGAACCCCTTACCTGGAA
TCTGGAATCAGCCTCTTCTCTGATGACCCTGAATCTGATCCTTCTGAAGACAGAGCCCCAGAGTCAGCTCGTGTTGGCAACATACCATCT
TCAACCTCTGCATTGAAAGTTCCCCAATTGAAAGTTGCAGAATCTGCCCAGAGTCCAGCTGCTGCTCATACTACTGATACTGCTGGGTAT
AATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACAAAAGAATGTCCATGGTGGTGTCT
GGCCTGACCCCAGAAGAATTTATGCTCGTGTACAAGTTTGCCAGAAAACACCACATCACTTTAACTAATCTAATTACTGAAGAGACTACT
CATGTTGTTATGAAAACAGATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGC
TATTTCTGGGTGACCCAGTCTATTAAAGAAAGAAAAATGCTGAATGAGCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAAC
CACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAGGTATCAGAGAGAATACAGTGAATTTAAACGACAGCAGCTGGAGCTGGA
TGATGAGCTGAAGAGTGTTGAAAACCAGATGCGTTATGCCCAGACGCAGCTGGATAAGCTGAAGAAAACCAACGTCTTTAATGCAACCTT
CCACATCTGGCACAGTGGACAGTTTGGCACAATCAATAACTTCAGGCTGGGTCGCCTGCCCAGTGTTCCCGTGGAATGGAATGAGATTAA
TGCTGCTTGGGGCCAGACTGTGTTGCTGCTCCATGCTCTGGCCAATAAGATGGGTCTGAAATTTCAGAGATACCGACTTGTTCCTTACGG
AAACCATTCATATCTGGAGTCTCTGACAGACAAATCTAAGGATGGATGTGGAGAAAGGCAAGATTGAAGACACAGGAGGCAGTGGCGGCT
CCTATTCCATCAAAACCCAGTTTAACTCTGAGGAGCAGTGGACAAAAGCTCTCAAGTTCATGCTGACGAATCTTAAGTGGGGTCTTGCTT
GGGTGTCCTCACAATTTTATAACAAATGACTTTTTTCCTTAGGGGGAGGTTTGCCTTAAAGGCTTTTAATTTTGTTTTGTTTGCAAACAT
GTTTTAAATTAAATTCGGGTAATATTAAACAGTACATGTTTACAATACCAAAAAAGAAAAAATCCACAAAAGCCACTTTATTTTAAAATA
TCATGTGACAGATACTTTCCAGAGCTACAACATGCCATCTATAGTTGCCAGCCCTGGTCAGTTTTGATTCTTAACCCCATGGACTCCTTT
CCCTTTCTTCTCTGAAAAAAACTAATTTAAATTTGCTTTTCTTTTTTTTAACTGAGTTGAATTGAGATTGATGTGTTTTCACTGGATTTT
TATCTCTCTCAACTTCCTGCACTTAACAATATGAAATAGAAACTTTTGTCTTTACTGAGATGAGGATATGTTTGAGATGCACAGTTGGAT

>In-frame_ENST00000591534_ENST00000438274_TCGA-CC-5263-01A_BRCA1_chr17_41209069_-_BECN1_chr17_40968072_length(amino acids)=256AA_start in transcript=102_stop in transcript=872
MHSCSGSLQNRNYPSQEELIKVVDVEEQQLEESGPHDLTETSYLPRQDLEGTPYLESGISLFSDDPESDPSEDRAPESARVGNIPSSTSA
LKVPQLKVAESAQSPAAAHTTDTAGYNAMEESVSREKPELTASTERVNKRMSMVVSGLTPEEFMLVYKFARKHHITLTNLITEETTHVVM

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Fusion Gene PPI Analysis for BRCA1-BECN1


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
HgeneBRCA1chr17:41209069chr17:40968072ENST00000357654-19231397_14241759.01864.0PALB2


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneBRCA1chr17:41209069chr17:40968072ENST00000352993-18221397_1424617.0722.0PALB2
HgeneBRCA1chr17:41209069chr17:40968072ENST00000468300-19221397_1424655.0700.0PALB2
HgeneBRCA1chr17:41209069chr17:40968072ENST00000491747-19231397_1424655.0760.0PALB2
TgeneBECN1chr17:41209069chr17:40968072ENST00000361523612112_159227.66666666666666451.0BCL2 and BCL2L1 isoform Bcl-X(L)
TgeneBECN1chr17:41209069chr17:40968072ENST00000590099612112_159227.66666666666666451.0BCL2 and BCL2L1 isoform Bcl-X(L)


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 BRCA1-BECN1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneBECN1Q14457DB00783EstradiolBinderSmall moleculeApproved|Investigational|Vet_approved
TgeneBECN1Q14457DB00783EstradiolBinderSmall moleculeApproved|Investigational|Vet_approved
TgeneBECN1Q14457DB13952Estradiol acetateSmall moleculeApproved|Investigational|Vet_approved
TgeneBECN1Q14457DB13952Estradiol acetateSmall moleculeApproved|Investigational|Vet_approved
TgeneBECN1Q14457DB13953Estradiol benzoateSmall moleculeApproved|Investigational|Vet_approved
TgeneBECN1Q14457DB13953Estradiol benzoateSmall moleculeApproved|Investigational|Vet_approved
TgeneBECN1Q14457DB13954Estradiol cypionateSmall moleculeApproved|Investigational|Vet_approved
TgeneBECN1Q14457DB13954Estradiol cypionateSmall moleculeApproved|Investigational|Vet_approved
TgeneBECN1Q14457DB13955Estradiol dienanthateSmall moleculeApproved|Investigational|Vet_approved
TgeneBECN1Q14457DB13955Estradiol dienanthateSmall moleculeApproved|Investigational|Vet_approved
TgeneBECN1Q14457DB13956Estradiol valerateSmall moleculeApproved|Investigational|Vet_approved
TgeneBECN1Q14457DB13956Estradiol valerateSmall moleculeApproved|Investigational|Vet_approved

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Related Diseases for BRCA1-BECN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBRCA1C0006142Malignant neoplasm of breast34CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneBRCA1C2676676BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 116CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneBRCA1C0678222Breast Carcinoma12CGI;CTD_human
HgeneBRCA1C1257931Mammary Neoplasms, Human12CTD_human
HgeneBRCA1C1458155Mammary Neoplasms12CTD_human
HgeneBRCA1C4704874Mammary Carcinoma, Human12CTD_human
HgeneBRCA1C2676677BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 110CLINGEN
HgeneBRCA1C2676678OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 110CLINGEN
HgeneBRCA1C1140680Malignant neoplasm of ovary9CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneBRCA1C4554406FANCONI ANEMIA, COMPLEMENTATION GROUP S7CLINGEN;GENOMICS_ENGLAND;UNIPROT
HgeneBRCA1C0011570Mental Depression5PSYGENET
HgeneBRCA1C0011581Depressive disorder5PSYGENET
HgeneBRCA1C0677776Hereditary Breast and Ovarian Cancer Syndrome5CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneBRCA1C0919267ovarian neoplasm5CGI;CTD_human
HgeneBRCA1C0015625Fanconi Anemia4GENOMICS_ENGLAND;ORPHANET
HgeneBRCA1C0346153Breast Cancer, Familial3ORPHANET
HgeneBRCA1C0024668Mammary Neoplasms, Experimental2CTD_human
HgeneBRCA1C2931456Prostate cancer, familial2ORPHANET
HgeneBRCA1C3280442PANCREATIC CANCER, SUSCEPTIBILITY TO, 42GENOMICS_ENGLAND
HgeneBRCA1C0006826Malignant Neoplasms1CGI;CTD_human
HgeneBRCA1C0007097Carcinoma1CTD_human
HgeneBRCA1C0007621Neoplastic Cell Transformation1CTD_human
HgeneBRCA1C0010606Adenoid Cystic Carcinoma1CTD_human
HgeneBRCA1C0023465Acute monocytic leukemia1GENOMICS_ENGLAND
HgeneBRCA1C0023467Leukemia, Myelocytic, Acute1GENOMICS_ENGLAND
HgeneBRCA1C0024667Animal Mammary Neoplasms1CTD_human
HgeneBRCA1C0026636Mouth Diseases1CTD_human
HgeneBRCA1C0027651Neoplasms1CTD_human
HgeneBRCA1C0030297Pancreatic Neoplasm1CGI;CTD_human
HgeneBRCA1C0033578Prostatic Neoplasms1CTD_human
HgeneBRCA1C0036341Schizophrenia1PSYGENET
HgeneBRCA1C0086692Benign Neoplasm1CTD_human
HgeneBRCA1C0205696Anaplastic carcinoma1CTD_human
HgeneBRCA1C0205697Carcinoma, Spindle-Cell1CTD_human
HgeneBRCA1C0205698Undifferentiated carcinoma1CTD_human
HgeneBRCA1C0205699Carcinomatosis1CTD_human
HgeneBRCA1C0265219Miller Dieker syndrome1GENOMICS_ENGLAND
HgeneBRCA1C0333704Chromosome Breaks1CTD_human
HgeneBRCA1C0346647Malignant neoplasm of pancreas1CGI;CTD_human
HgeneBRCA1C0376358Malignant neoplasm of prostate1CTD_human
HgeneBRCA1C0376628Chromosome Breakage1CTD_human
HgeneBRCA1C1257925Mammary Carcinoma, Animal1CTD_human
HgeneBRCA1C1514428Primary peritoneal carcinoma1ORPHANET
HgeneBRCA1C2931038Pancreatic carcinoma, familial1ORPHANET
HgeneBRCA1C3463824MYELODYSPLASTIC SYNDROME1GENOMICS_ENGLAND
HgeneBRCA1C4225275MENTAL RETARDATION, AUTOSOMAL DOMINANT 401GENOMICS_ENGLAND
HgeneBRCA1C4749652Hereditary site-specific ovarian cancer syndrome1ORPHANET
TgeneBECN1C0024121Lung Neoplasms2CTD_human
TgeneBECN1C0242379Malignant neoplasm of lung2CTD_human
TgeneBECN1C0007102Malignant tumor of colon1CTD_human
TgeneBECN1C0009375Colonic Neoplasms1CTD_human
TgeneBECN1C0027051Myocardial Infarction1CTD_human
TgeneBECN1C0036341Schizophrenia1PSYGENET
TgeneBECN1C0038220Status Epilepticus1CTD_human
TgeneBECN1C0270823Petit mal status1CTD_human
TgeneBECN1C0311335Grand Mal Status Epilepticus1CTD_human
TgeneBECN1C0393734Complex Partial Status Epilepticus1CTD_human
TgeneBECN1C0751522Status Epilepticus, Subclinical1CTD_human
TgeneBECN1C0751523Non-Convulsive Status Epilepticus1CTD_human
TgeneBECN1C0751524Simple Partial Status Epilepticus1CTD_human
TgeneBECN1C0752347Lewy Body Disease1CTD_human