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Fusion gene ID: 10925 |
FusionGeneSummary for EDC4_BRCA1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EDC4_BRCA1 | Fusion gene ID: 10925 | Hgene | Tgene | Gene symbol | EDC4 | BRCA1 | Gene ID | 23644 | 672 |
| Gene name | enhancer of mRNA decapping 4 | BRCA1, DNA repair associated | |
| Synonyms | GE1|Ge-1|HEDL5|HEDLS|RCD-8|RCD8 | BRCAI|BRCC1|BROVCA1|FANCS|IRIS|PNCA4|PPP1R53|PSCP|RNF53 | |
| Cytomap | 16q22.1 | 17q21.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | enhancer of mRNA-decapping protein 4autoantigen Ge-1autoantigen RCD-8human enhancer of decapping large subunit | 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 | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q6P2E9 | P38398 | |
| Ensembl transtripts involved in fusion gene | ENST00000358933, ENST00000574770, | ENST00000357654, ENST00000351666, ENST00000309486, ENST00000346315, ENST00000354071, ENST00000352993, ENST00000468300, ENST00000591534, ENST00000591849, ENST00000586385, ENST00000493795, ENST00000471181, ENST00000491747, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 4 X 5 X 4=80 |
| # samples | 1 | 4 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(4/80*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: EDC4 [Title/Abstract] AND BRCA1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * 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 |
| Tgene | BRCA1 | GO:0000724 | double-strand break repair via homologous recombination | 17349954 |
| Tgene | BRCA1 | GO:0006301 | postreplication repair | 17349954 |
| Tgene | BRCA1 | GO:0006302 | double-strand break repair | 22186889 |
| Tgene | BRCA1 | GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage | 14654789 |
| Tgene | BRCA1 | GO:0016567 | protein ubiquitination | 17349954 |
| Tgene | BRCA1 | GO:0031398 | positive regulation of protein ubiquitination | 15965487 |
| Tgene | BRCA1 | GO:0035066 | positive regulation of histone acetylation | 20820192 |
| Tgene | BRCA1 | GO:0043627 | response to estrogen | 8895509 |
| Tgene | BRCA1 | GO:0045892 | negative regulation of transcription, DNA-templated | 16288014 |
| Tgene | BRCA1 | GO:0045893 | positive regulation of transcription, DNA-templated | 20160719 |
| Tgene | BRCA1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 16331276 |
| Tgene | BRCA1 | GO:0051571 | positive regulation of histone H3-K4 methylation | 20820192 |
| Tgene | BRCA1 | GO:0051573 | negative regulation of histone H3-K9 methylation | 20820192 |
| Tgene | BRCA1 | GO:0051865 | protein autoubiquitination | 12890688|20351172 |
| Tgene | BRCA1 | GO:0070512 | positive regulation of histone H4-K20 methylation | 20820192 |
| Tgene | BRCA1 | GO:0071158 | positive regulation of cell cycle arrest | 21102443 |
| Tgene | BRCA1 | GO:0071681 | cellular response to indole-3-methanol | 10868478 |
| Tgene | BRCA1 | GO:0085020 | protein K6-linked ubiquitination | 12890688|20351172 |
| Tgene | BRCA1 | GO:2000617 | positive regulation of histone H3-K9 acetylation | 20820192 |
| Tgene | BRCA1 | GO:2000620 | positive regulation of histone H4-K16 acetylation | 20820192 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | AW594233 | EDC4 | chr16 | 67918200 | - | BRCA1 | chr17 | 41284300 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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 |
| 3UTR-intron | ENST00000358933 | ENST00000357654 | EDC4 | chr16 | 67918200 | - | BRCA1 | chr17 | 41284300 | - |
| 3UTR-intron | ENST00000358933 | ENST00000351666 | EDC4 | chr16 | 67918200 | - | BRCA1 | chr17 | 41284300 | - |
| 3UTR-intron | ENST00000358933 | ENST00000309486 | EDC4 | chr16 | 67918200 | - | BRCA1 | chr17 | 41284300 | - |
| 3UTR-intron | ENST00000358933 | ENST00000346315 | EDC4 | chr16 | 67918200 | - | BRCA1 | chr17 | 41284300 | - |
| 3UTR-intron | ENST00000358933 | ENST00000354071 | EDC4 | chr16 | 67918200 | - | BRCA1 | chr17 | 41284300 | - |
| 3UTR-intron | ENST00000358933 | ENST00000352993 | EDC4 | chr16 | 67918200 | - | BRCA1 | chr17 | 41284300 | - |
| 3UTR-intron | ENST00000358933 | ENST00000468300 | EDC4 | chr16 | 67918200 | - | BRCA1 | chr17 | 41284300 | - |
| 3UTR-intron | ENST00000358933 | ENST00000591534 | EDC4 | chr16 | 67918200 | - | BRCA1 | chr17 | 41284300 | - |
| 3UTR-intron | ENST00000358933 | ENST00000591849 | EDC4 | chr16 | 67918200 | - | BRCA1 | chr17 | 41284300 | - |
| 3UTR-intron | ENST00000358933 | ENST00000586385 | EDC4 | chr16 | 67918200 | - | BRCA1 | chr17 | 41284300 | - |
| 3UTR-intron | ENST00000358933 | ENST00000493795 | EDC4 | chr16 | 67918200 | - | BRCA1 | chr17 | 41284300 | - |
| 3UTR-intron | ENST00000358933 | ENST00000471181 | EDC4 | chr16 | 67918200 | - | BRCA1 | chr17 | 41284300 | - |
| 3UTR-intron | ENST00000358933 | ENST00000491747 | EDC4 | chr16 | 67918200 | - | BRCA1 | chr17 | 41284300 | - |
| intron-intron | ENST00000574770 | ENST00000357654 | EDC4 | chr16 | 67918200 | - | BRCA1 | chr17 | 41284300 | - |
| intron-intron | ENST00000574770 | ENST00000351666 | EDC4 | chr16 | 67918200 | - | BRCA1 | chr17 | 41284300 | - |
| intron-intron | ENST00000574770 | ENST00000309486 | EDC4 | chr16 | 67918200 | - | BRCA1 | chr17 | 41284300 | - |
| intron-intron | ENST00000574770 | ENST00000346315 | EDC4 | chr16 | 67918200 | - | BRCA1 | chr17 | 41284300 | - |
| intron-intron | ENST00000574770 | ENST00000354071 | EDC4 | chr16 | 67918200 | - | BRCA1 | chr17 | 41284300 | - |
| intron-intron | ENST00000574770 | ENST00000352993 | EDC4 | chr16 | 67918200 | - | BRCA1 | chr17 | 41284300 | - |
| intron-intron | ENST00000574770 | ENST00000468300 | EDC4 | chr16 | 67918200 | - | BRCA1 | chr17 | 41284300 | - |
| intron-intron | ENST00000574770 | ENST00000591534 | EDC4 | chr16 | 67918200 | - | BRCA1 | chr17 | 41284300 | - |
| intron-intron | ENST00000574770 | ENST00000591849 | EDC4 | chr16 | 67918200 | - | BRCA1 | chr17 | 41284300 | - |
| intron-intron | ENST00000574770 | ENST00000586385 | EDC4 | chr16 | 67918200 | - | BRCA1 | chr17 | 41284300 | - |
| intron-intron | ENST00000574770 | ENST00000493795 | EDC4 | chr16 | 67918200 | - | BRCA1 | chr17 | 41284300 | - |
| intron-intron | ENST00000574770 | ENST00000471181 | EDC4 | chr16 | 67918200 | - | BRCA1 | chr17 | 41284300 | - |
| intron-intron | ENST00000574770 | ENST00000491747 | EDC4 | chr16 | 67918200 | - | BRCA1 | chr17 | 41284300 | - |
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FusionProtFeatures for EDC4_BRCA1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EDC4 | BRCA1 |
| In the process of mRNA degradation, seems to play a rolein mRNA decapping. Component of a complex containing DCP2 andDCP1A which functions in decapping of ARE-containing mRNAs.Promotes complex formation between DCP1A and DCP2. Enhances thecatalytic activity of DCP2 (in vitro).{ECO:0000269|PubMed:16364915}. | E3 ubiquitin-protein ligase that specifically mediatesthe formation of 'Lys-6'-linked polyubiquitin chains and plays acentral role in DNA repair by facilitating cellular responses toDNA damage. It is unclear whether it also mediates the formationof other types of polyubiquitin chains. The E3 ubiquitin-proteinligase activity is required for its tumor suppressor function. TheBRCA1-BARD1 heterodimer coordinates a diverse range of cellularpathways such as DNA damage repair, ubiquitination andtranscriptional regulation to maintain genomic stability.Regulates centrosomal microtubule nucleation. Required for normalcell cycle progression from G2 to mitosis. Required forappropriate cell cycle arrests after ionizing irradiation in boththe S-phase and the G2 phase of the cell cycle. Involved intranscriptional regulation of P21 in response to DNA damage.Required for FANCD2 targeting to sites of DNA damage. May functionas a transcriptional regulator. Inhibits lipid synthesis bybinding to inactive phosphorylated ACACA and preventing itsdephosphorylation. Contributes to homologous recombination repair(HRR) via its direct interaction with PALB2, fine-tunesrecombinational repair partly through its modulatory role in thePALB2-dependent loading of BRCA2-RAD51 repair machinery at DNAbreaks. Component of the BRCA1-RBBP8 complex which regulates CHEK1activation and controls cell cycle G2/M checkpoints on DNA damagevia BRCA1-mediated ubiquitination of RBBP8. Acts as atranscriptional activator (PubMed:20160719).{ECO:0000269|PubMed:10500182, ECO:0000269|PubMed:10724175,ECO:0000269|PubMed:11836499, ECO:0000269|PubMed:12887909,ECO:0000269|PubMed:12890688, ECO:0000269|PubMed:14976165,ECO:0000269|PubMed:14990569, 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, ECO:0000269|PubMed:20364141}. |
| 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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FusionGeneSequence for EDC4_BRCA1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for EDC4_BRCA1 |
| 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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RelatedDrugs for EDC4_BRCA1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for EDC4_BRCA1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | BRCA1 | C0006142 | Malignant neoplasm of breast | 21 | ORPHANET;UNIPROT |
| Tgene | BRCA1 | C1458155 | Mammary Neoplasms | 11 | CTD_human |
| Tgene | BRCA1 | C0011570 | Mental Depression | 5 | PSYGENET |
| Tgene | BRCA1 | C0011581 | Depressive disorder | 5 | PSYGENET |
| Tgene | BRCA1 | C0919267 | ovarian neoplasm | 5 | CTD_human |
| Tgene | BRCA1 | C0024668 | Mammary Neoplasms, Experimental | 2 | CTD_human |
| Tgene | BRCA1 | C0677776 | Hereditary Breast and Ovarian Cancer Syndrome | 2 | CTD_human;ORPHANET |
| Tgene | BRCA1 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| Tgene | BRCA1 | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| Tgene | BRCA1 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| Tgene | BRCA1 | C0026636 | Mouth Diseases | 1 | CTD_human |
| Tgene | BRCA1 | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
| Tgene | BRCA1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | BRCA1 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | BRCA1 | C0376628 | Chromosome Breakage | 1 | CTD_human |
| Tgene | BRCA1 | C1140680 | Malignant neoplasm of ovary | 1 | UNIPROT |
| Tgene | BRCA1 | C2676676 | BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | 1 | CTD_human;ORPHANET;UNIPROT |
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