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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:BRCA1-NMT1 (FusionGDB2 ID:10153) |
Fusion Gene Summary for BRCA1-NMT1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BRCA1-NMT1 | Fusion gene ID: 10153 | Hgene | Tgene | Gene symbol | BRCA1 | NMT1 | Gene ID | 672 | 4836 |
| Gene name | BRCA1 DNA repair associated | N-myristoyltransferase 1 | |
| Synonyms | BRCAI|BRCC1|BROVCA1|FANCS|IRIS|PNCA4|PPP1R53|PSCP|RNF53 | NMT | |
| 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 | glycylpeptide N-tetradecanoyltransferase 1alternative, short form NMT-Slong form, NMT-Lmyristoyl-CoA:protein N-myristoyltransferase 1type I N-myristoyltransferase | |
| Modification date | 20200329 | 20200313 | |
| UniProtAcc | P38398 | P30419 | |
| Ensembl transtripts involved in fusion gene | ENST00000309486, ENST00000346315, ENST00000351666, ENST00000352993, ENST00000354071, ENST00000357654, ENST00000468300, ENST00000471181, ENST00000491747, ENST00000493795, ENST00000586385, ENST00000591534, ENST00000591849, | ENST00000258960, ENST00000592782, ENST00000590114, | |
| Fusion gene scores | * DoF score | 9 X 8 X 7=504 | 12 X 14 X 6=1008 |
| # samples | 9 | 14 | |
| ** MAII score | log2(9/504*10)=-2.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(14/1008*10)=-2.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: BRCA1 [Title/Abstract] AND NMT1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | BRCA1(41244949)-NMT1(43175869), # 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) |
| 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 | NMT1 | GO:0018008 | N-terminal peptidyl-glycine N-myristoylation | 25255805 |
| Tgene | NMT1 | GO:0042180 | cellular ketone metabolic process | 22865860 |
| 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. |
| Fusion gene breakpoints across NMT1 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| 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 | BRCA | TCGA-A2-A04U-01A | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
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Fusion Gene ORF analysis for BRCA1-NMT1 |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| intron-3CDS | ENST00000309486 | ENST00000258960 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-3CDS | ENST00000309486 | ENST00000592782 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-3CDS | ENST00000346315 | ENST00000258960 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-3CDS | ENST00000346315 | ENST00000592782 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-3CDS | ENST00000351666 | ENST00000258960 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-3CDS | ENST00000351666 | ENST00000592782 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-3CDS | ENST00000352993 | ENST00000258960 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-3CDS | ENST00000352993 | ENST00000592782 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-3CDS | ENST00000354071 | ENST00000258960 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-3CDS | ENST00000354071 | ENST00000592782 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-3CDS | ENST00000357654 | ENST00000258960 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-3CDS | ENST00000357654 | ENST00000592782 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-3CDS | ENST00000468300 | ENST00000258960 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-3CDS | ENST00000468300 | ENST00000592782 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-3CDS | ENST00000471181 | ENST00000258960 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-3CDS | ENST00000471181 | ENST00000592782 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-3CDS | ENST00000491747 | ENST00000258960 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-3CDS | ENST00000491747 | ENST00000592782 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-3CDS | ENST00000493795 | ENST00000258960 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-3CDS | ENST00000493795 | ENST00000592782 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-3CDS | ENST00000586385 | ENST00000258960 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-3CDS | ENST00000586385 | ENST00000592782 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-3CDS | ENST00000591534 | ENST00000258960 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-3CDS | ENST00000591534 | ENST00000592782 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-3CDS | ENST00000591849 | ENST00000258960 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-3CDS | ENST00000591849 | ENST00000592782 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-intron | ENST00000309486 | ENST00000590114 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-intron | ENST00000346315 | ENST00000590114 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-intron | ENST00000351666 | ENST00000590114 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-intron | ENST00000352993 | ENST00000590114 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-intron | ENST00000354071 | ENST00000590114 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-intron | ENST00000357654 | ENST00000590114 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-intron | ENST00000468300 | ENST00000590114 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-intron | ENST00000471181 | ENST00000590114 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-intron | ENST00000491747 | ENST00000590114 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-intron | ENST00000493795 | ENST00000590114 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-intron | ENST00000586385 | ENST00000590114 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-intron | ENST00000591534 | ENST00000590114 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| intron-intron | ENST00000591849 | ENST00000590114 | BRCA1 | chr17 | 41244949 | - | NMT1 | chr17 | 43175869 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| 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) |
| 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 |
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Fusion Genomic Features for BRCA1-NMT1 |
| FusionAI 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. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution 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. |
| Distribution 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-NMT1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:41244949/:43175869) - 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 | NMT1 |
| 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: Adds a myristoyl group to the N-terminal glycine residue of certain cellular and viral proteins. {ECO:0000269|PubMed:22865860, ECO:0000269|PubMed:25255805, ECO:0000269|PubMed:9353336, ECO:0000269|PubMed:9506952}. |
| 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. |
| - In-frame and 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 |
| - In-frame and 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 |
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Fusion Gene Sequence for BRCA1-NMT1 |
| 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 BRCA1-NMT1 |
| 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 (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for BRCA1-NMT1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for BRCA1-NMT1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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