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Fusion Protein:BRCA1-BECN1 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: BRCA1-BECN1 | FusionPDB ID: 10149 | FusionGDB2.0 ID: 10149 | Hgene | Tgene | Gene symbol | BRCA1 | BECN1 | Gene ID | 672 | 8678 |
| Gene name | BRCA1 DNA repair associated | beclin 1 | |
| Synonyms | BRCAI|BRCC1|BROVCA1|FANCS|IRIS|PNCA4|PPP1R53|PSCP|RNF53 | ATG6|VPS30|beclin1 | |
| Cytomap | 17q21.31 | 17q21.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | breast 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 date | 20200329 | 20200327 | |
| UniProtAcc | UIMC1 | Q14457 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000309486, ENST00000346315, ENST00000351666, ENST00000352993, ENST00000354071, ENST00000357654, ENST00000468300, ENST00000471181, ENST00000491747, ENST00000493795, ENST00000586385, ENST00000591534, ENST00000591849, | ENST00000361523, ENST00000438274, ENST00000590099, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 9 X 8 X 7=504 | 4 X 3 X 4=48 |
| # samples | 9 | 4 | |
| ** MAII score | log2(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 (manual curation of fusion genes in FusionPDB) | PubMed: BRCA1 [Title/Abstract] AND BECN1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | BRCA1(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 by not retaining the major functional domain in the partially deleted in-frame ORF. BRCA1-BECN1 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. BRCA1-BECN1 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. BRCA1-BECN1 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. 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 epigenetic factor 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 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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | BRCA1 | GO:0000724 | double-strand break repair via homologous recombination | 17349954 |
| Hgene | BRCA1 | GO:0006301 | postreplication repair | 17349954 |
| Hgene | BRCA1 | GO:0006302 | double-strand break repair | 22186889 |
| Hgene | BRCA1 | GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage | 14654789 |
| Hgene | BRCA1 | GO:0016567 | protein ubiquitination | 17349954 |
| Hgene | BRCA1 | GO:0031398 | positive regulation of protein ubiquitination | 15965487 |
| Hgene | BRCA1 | GO:0035066 | positive regulation of histone acetylation | 20820192 |
| Hgene | BRCA1 | GO:0043627 | response to estrogen | 8895509 |
| Hgene | BRCA1 | GO:0045892 | negative regulation of transcription, DNA-templated | 16288014 |
| Hgene | BRCA1 | GO:0045893 | positive regulation of transcription, DNA-templated | 20160719 |
| Hgene | BRCA1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 16331276 |
| Hgene | BRCA1 | GO:0051571 | positive regulation of histone H3-K4 methylation | 20820192 |
| Hgene | BRCA1 | GO:0051573 | negative regulation of histone H3-K9 methylation | 20820192 |
| Hgene | BRCA1 | GO:0051865 | protein autoubiquitination | 12890688|20351172 |
| Hgene | BRCA1 | GO:0070512 | positive regulation of histone H4-K20 methylation | 20820192 |
| Hgene | BRCA1 | GO:0071158 | positive regulation of cell cycle arrest | 21102443 |
| Hgene | BRCA1 | GO:0071681 | cellular response to indole-3-methanol | 10868478 |
| Hgene | BRCA1 | GO:0085020 | protein K6-linked ubiquitination | 12890688|20351172 |
| Hgene | BRCA1 | GO:2000617 | positive regulation of histone H3-K9 acetylation | 20820192 |
| Hgene | BRCA1 | GO:2000620 | positive regulation of histone H4-K16 acetylation | 20820192 |
| Tgene | BECN1 | GO:0006914 | autophagy | 23629966 |
| Fusion 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. |
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| Fusion 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. |
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Fusion Gene Sample Information |
| Fusion gene information from FusionGDB2.0. |
| 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | LIHC | TCGA-CC-5263-01A | BRCA1 | chr17 | 41209069 | - | BECN1 | chr17 | 40968072 | - |
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Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| ENST00000591534 | BRCA1 | chr17 | 41209069 | - | ENST00000361523 | BECN1 | chr17 | 40968072 | - | 2148 | 852 | 102 | 872 | 256 |
| ENST00000591534 | BRCA1 | chr17 | 41209069 | - | ENST00000590099 | BECN1 | chr17 | 40968072 | - | 2145 | 852 | 102 | 872 | 256 |
| ENST00000591534 | BRCA1 | chr17 | 41209069 | - | ENST00000438274 | BECN1 | chr17 | 40968072 | - | 1831 | 852 | 102 | 872 | 256 |
| DeepORF 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. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
| ENST00000591534 | ENST00000361523 | BRCA1 | chr17 | 41209069 | - | BECN1 | chr17 | 40968072 | - | 0.001018873 | 0.99898106 |
| ENST00000591534 | ENST00000590099 | BRCA1 | chr17 | 41209069 | - | BECN1 | chr17 | 40968072 | - | 0.001017529 | 0.9989825 |
| ENST00000591534 | ENST00000438274 | BRCA1 | chr17 | 41209069 | - | BECN1 | chr17 | 40968072 | - | 0.001025217 | 0.9989748 |
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Fusion Amino Acid Sequences |
| 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 >10149_10149_1_BRCA1-BECN1_BRCA1_chr17_41209069_ENST00000591534_BECN1_chr17_40968072_ENST00000361523_length(amino acids)=256AA_BP= MHSCSGSLQNRNYPSQEELIKVVDVEEQQLEESGPHDLTETSYLPRQDLEGTPYLESGISLFSDDPESDPSEDRAPESARVGNIPSSTSA LKVPQLKVAESAQSPAAAHTTDTAGYNAMEESVSREKPELTASTERVNKRMSMVVSGLTPEEFMLVYKFARKHHITLTNLITEETTHVVM -------------------------------------------------------------- >10149_10149_2_BRCA1-BECN1_BRCA1_chr17_41209069_ENST00000591534_BECN1_chr17_40968072_ENST00000438274_length(amino acids)=256AA_BP= MHSCSGSLQNRNYPSQEELIKVVDVEEQQLEESGPHDLTETSYLPRQDLEGTPYLESGISLFSDDPESDPSEDRAPESARVGNIPSSTSA LKVPQLKVAESAQSPAAAHTTDTAGYNAMEESVSREKPELTASTERVNKRMSMVVSGLTPEEFMLVYKFARKHHITLTNLITEETTHVVM -------------------------------------------------------------- >10149_10149_3_BRCA1-BECN1_BRCA1_chr17_41209069_ENST00000591534_BECN1_chr17_40968072_ENST00000590099_length(amino acids)=256AA_BP= MHSCSGSLQNRNYPSQEELIKVVDVEEQQLEESGPHDLTETSYLPRQDLEGTPYLESGISLFSDDPESDPSEDRAPESARVGNIPSSTSA LKVPQLKVAESAQSPAAAHTTDTAGYNAMEESVSREKPELTASTERVNKRMSMVVSGLTPEEFMLVYKFARKHHITLTNLITEETTHVVM -------------------------------------------------------------- |
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Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/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. - 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. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BRCA1 | BECN1 |
| 719 | 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}. |
| Retention 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 * Minus value of BPloci means that the break pointn is located before the CDS. |
| - Retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| Hgene | BRCA1 | chr17:41209069 | chr17:40968072 | ENST00000357654 | - | 19 | 23 | 651_654 | 1759.0 | 1864.0 | Compositional bias | Note=Poly-Lys |
| Hgene | BRCA1 | chr17:41209069 | chr17:40968072 | ENST00000468300 | - | 19 | 22 | 651_654 | 655.0 | 700.0 | Compositional bias | Note=Poly-Lys |
| Hgene | BRCA1 | chr17:41209069 | chr17:40968072 | ENST00000491747 | - | 19 | 23 | 651_654 | 655.0 | 760.0 | Compositional bias | Note=Poly-Lys |
| Hgene | BRCA1 | chr17:41209069 | chr17:40968072 | ENST00000357654 | - | 19 | 23 | 1642_1736 | 1759.0 | 1864.0 | Domain | BRCT 1 |
| Hgene | BRCA1 | chr17:41209069 | chr17:40968072 | ENST00000352993 | - | 18 | 22 | 24_65 | 617.0 | 722.0 | Zinc finger | RING-type |
| Hgene | BRCA1 | chr17:41209069 | chr17:40968072 | ENST00000357654 | - | 19 | 23 | 24_65 | 1759.0 | 1864.0 | Zinc finger | RING-type |
| Hgene | BRCA1 | chr17:41209069 | chr17:40968072 | ENST00000468300 | - | 19 | 22 | 24_65 | 655.0 | 700.0 | Zinc finger | RING-type |
| Hgene | BRCA1 | chr17:41209069 | chr17:40968072 | ENST00000491747 | - | 19 | 23 | 24_65 | 655.0 | 760.0 | Zinc finger | RING-type |
| Tgene | BECN1 | chr17:41209069 | chr17:40968072 | ENST00000361523 | 6 | 12 | 245_450 | 227.66666666666666 | 451.0 | Region | Evolutionary conserved domain (ECD) | |
| Tgene | BECN1 | chr17:41209069 | chr17:40968072 | ENST00000361523 | 6 | 12 | 425_450 | 227.66666666666666 | 451.0 | Region | Required for membrane-association | |
| Tgene | BECN1 | chr17:41209069 | chr17:40968072 | ENST00000590099 | 6 | 12 | 245_450 | 227.66666666666666 | 451.0 | Region | Evolutionary conserved domain (ECD) | |
| Tgene | BECN1 | chr17:41209069 | chr17:40968072 | ENST00000590099 | 6 | 12 | 425_450 | 227.66666666666666 | 451.0 | Region | Required for membrane-association |
| - Not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| Hgene | BRCA1 | chr17:41209069 | chr17:40968072 | ENST00000352993 | - | 18 | 22 | 651_654 | 617.0 | 722.0 | Compositional bias | Note=Poly-Lys |
| Hgene | BRCA1 | chr17:41209069 | chr17:40968072 | ENST00000352993 | - | 18 | 22 | 1642_1736 | 617.0 | 722.0 | Domain | BRCT 1 |
| Hgene | BRCA1 | chr17:41209069 | chr17:40968072 | ENST00000352993 | - | 18 | 22 | 1756_1855 | 617.0 | 722.0 | Domain | BRCT 2 |
| Hgene | BRCA1 | chr17:41209069 | chr17:40968072 | ENST00000357654 | - | 19 | 23 | 1756_1855 | 1759.0 | 1864.0 | Domain | BRCT 2 |
| Hgene | BRCA1 | chr17:41209069 | chr17:40968072 | ENST00000468300 | - | 19 | 22 | 1642_1736 | 655.0 | 700.0 | Domain | BRCT 1 |
| Hgene | BRCA1 | chr17:41209069 | chr17:40968072 | ENST00000468300 | - | 19 | 22 | 1756_1855 | 655.0 | 700.0 | Domain | BRCT 2 |
| Hgene | BRCA1 | chr17:41209069 | chr17:40968072 | ENST00000491747 | - | 19 | 23 | 1642_1736 | 655.0 | 760.0 | Domain | BRCT 1 |
| Hgene | BRCA1 | chr17:41209069 | chr17:40968072 | ENST00000491747 | - | 19 | 23 | 1756_1855 | 655.0 | 760.0 | Domain | BRCT 2 |
| Tgene | BECN1 | chr17:41209069 | chr17:40968072 | ENST00000361523 | 6 | 12 | 142_270 | 227.66666666666666 | 451.0 | Coiled coil | Ontology_term=ECO:0000255 | |
| Tgene | BECN1 | chr17:41209069 | chr17:40968072 | ENST00000590099 | 6 | 12 | 142_270 | 227.66666666666666 | 451.0 | Coiled coil | Ontology_term=ECO:0000255 | |
| Tgene | BECN1 | chr17:41209069 | chr17:40968072 | ENST00000361523 | 6 | 12 | 108_127 | 227.66666666666666 | 451.0 | Motif | Note=BH3 | |
| Tgene | BECN1 | chr17:41209069 | chr17:40968072 | ENST00000590099 | 6 | 12 | 108_127 | 227.66666666666666 | 451.0 | Motif | Note=BH3 |
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Fusion Protein-Protein Interaction |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
| Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| BRCA1 | |
| BECN1 |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| Hgene | BRCA1 | chr17:41209069 | chr17:40968072 | ENST00000352993 | - | 18 | 22 | 1397_1424 | 617.0 | 722.0 | PALB2 |
| Hgene | BRCA1 | chr17:41209069 | chr17:40968072 | ENST00000468300 | - | 19 | 22 | 1397_1424 | 655.0 | 700.0 | PALB2 |
| Hgene | BRCA1 | chr17:41209069 | chr17:40968072 | ENST00000491747 | - | 19 | 23 | 1397_1424 | 655.0 | 760.0 | PALB2 |
| Tgene | BECN1 | chr17:41209069 | chr17:40968072 | ENST00000361523 | 6 | 12 | 112_159 | 227.66666666666666 | 451.0 | BCL2 and BCL2L1 isoform Bcl-X(L) | |
| Tgene | BECN1 | chr17:41209069 | chr17:40968072 | ENST00000590099 | 6 | 12 | 112_159 | 227.66666666666666 | 451.0 | BCL2 and BCL2L1 isoform Bcl-X(L) |
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Related Drugs to BRCA1-BECN1 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to BRCA1-BECN1 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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