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Fusion gene ID: 10847 |
FusionGeneSummary for E2F7_MDC1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: E2F7_MDC1 | Fusion gene ID: 10847 | Hgene | Tgene | Gene symbol | E2F7 | MDC1 | Gene ID | 144455 | 9656 |
| Gene name | E2F transcription factor 7 | mediator of DNA damage checkpoint 1 | |
| Synonyms | - | NFBD1 | |
| Cytomap | 12q21.2 | 6p21.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transcription factor E2F7E2F-7 | mediator of DNA damage checkpoint protein 1homologue to Drosophila photoreceptor protein calphotinnuclear factor with BRCT domains 1 | |
| Modification date | 20180522 | 20180519 | |
| UniProtAcc | Q96AV8 | Q14676 | |
| Ensembl transtripts involved in fusion gene | ENST00000322886, ENST00000416496, | ENST00000376406, ENST00000376405, ENST00000494654, ENST00000427406, ENST00000547874, ENST00000551460, ENST00000547700, ENST00000481026, ENST00000552522, ENST00000420019, ENST00000548112, ENST00000550004, ENST00000548103, ENST00000473187, ENST00000552474, ENST00000420320, ENST00000552263, ENST00000551204, ENST00000549428, ENST00000495325, ENST00000547681, ENST00000449153, ENST00000553048, ENST00000546487, ENST00000553196, ENST00000494715, ENST00000547353, ENST00000383566, ENST00000548827, ENST00000552349, ENST00000550408, ENST00000481547, ENST00000550688, ENST00000440369, ENST00000547047, ENST00000548542, ENST00000548248, ENST00000482029, ENST00000550500, ENST00000435664, ENST00000548433, ENST00000551740, ENST00000467476, ENST00000546539, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 7 X 7 X 4=196 |
| # samples | 2 | 7 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(7/196*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: E2F7 [Title/Abstract] AND MDC1 [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 |
| Hgene | E2F7 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 22802528 |
| Hgene | E2F7 | GO:0030330 | DNA damage response, signal transduction by p53 class mediator | 22802528 |
| Hgene | E2F7 | GO:0071930 | negative regulation of transcription involved in G1/S transition of mitotic cell cycle | 22802528 |
| 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 | CV340093 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| * 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 |
| intron-intron | ENST00000322886 | ENST00000376406 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000376405 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000494654 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000427406 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000547874 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000551460 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000547700 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000481026 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000552522 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000420019 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000548112 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000550004 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000548103 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000473187 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000552474 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000420320 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000552263 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000551204 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000549428 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000495325 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000547681 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000449153 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000553048 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000546487 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000553196 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000494715 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000547353 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000383566 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000548827 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000552349 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000550408 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000481547 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000550688 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000440369 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000547047 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000548542 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000548248 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000482029 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000550500 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000435664 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000548433 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000551740 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000467476 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000322886 | ENST00000546539 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000376406 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000376405 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000494654 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000427406 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000547874 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000551460 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000547700 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000481026 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000552522 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000420019 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000548112 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000550004 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000548103 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000473187 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000552474 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000420320 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000552263 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000551204 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000549428 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000495325 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000547681 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000449153 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000553048 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000546487 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000553196 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000494715 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000547353 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000383566 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000548827 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000552349 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000550408 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000481547 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000550688 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000440369 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000547047 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000548542 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000548248 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000482029 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000550500 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000435664 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000548433 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000551740 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000467476 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
| intron-intron | ENST00000416496 | ENST00000546539 | E2F7 | chr12 | 77419459 | - | MDC1 | chr6 | 2005525 | - |
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FusionProtFeatures for E2F7_MDC1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| E2F7 | MDC1 |
| Atypical E2F transcription factor that participates invarious processes such as angiogenesis, polyploidization ofspecialized cells and DNA damage response. Mainly acts as atranscription repressor that binds DNA independently of DPproteins and specifically recognizes the E2 recognition site 5'-TTTC[CG]CGC-3'. Directly represses transcription of classical E2Ftranscription factors such as E2F1. Acts as a regulator of S-phaseby recognizing and binding the E2-related site 5'-TTCCCGCC-3' andmediating repression of G1/S-regulated genes. Plays a key role inpolyploidization of cells in placenta and liver by regulating theendocycle, probably by repressing genes promoting cytokinesis andantagonizing action of classical E2F proteins (E2F1, E2F2 and/orE2F3). Required for placental development by promotingpolyploidization of trophoblast giant cells. Also involved in DNAdamage response: up-regulated by p53/TP53 following genotoxicstress and acts as a downstream effector of p53/TP53-dependentrepression by mediating repression of indirect p53/TP53 targetgenes involved in DNA replication. Acts as a promoter of sproutingangiogenesis, possibly by acting as a transcription activator:associates with HIF1A, recognizes and binds the VEGFA promoter,which is different from canonical E2 recognition site, andactivates expression of the VEGFA gene. Acts as a negativeregulator of keratinocyte differentiation.{ECO:0000269|PubMed:14633988, ECO:0000269|PubMed:15133492,ECO:0000269|PubMed:18202719, ECO:0000269|PubMed:19223542,ECO:0000269|PubMed:21248772, ECO:0000269|PubMed:22802528,ECO:0000269|PubMed:22802529, ECO:0000269|PubMed:22903062}. |
| 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 E2F7_MDC1 |
| 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 E2F7_MDC1 |
| 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 E2F7_MDC1 |
| 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 E2F7_MDC1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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