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Fusion gene ID: 6285 |
FusionGeneSummary for CD83_EHF |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CD83_EHF | Fusion gene ID: 6285 | Hgene | Tgene | Gene symbol | CD83 | EHF | Gene ID | 9308 | 26298 |
| Gene name | CD83 molecule | ETS homologous factor | |
| Synonyms | BL11|HB15 | ESE3|ESE3B|ESEJ | |
| Cytomap | 6p23 | 11p13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | CD83 antigenB-cell activation proteinCD83 antigen (activated B lymphocytes, immunoglobulin superfamily)cell surface protein HB15cell-surface glycoproteinhCD83 | ETS homologous factorESE3 transcription factorETS domain-containing transcription factorepithelium-specific Ets transcription factor 3hEHF | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q01151 | Q9NZC4 | |
| Ensembl transtripts involved in fusion gene | ENST00000379153, | ENST00000527001, ENST00000257831, ENST00000450654, ENST00000530286, ENST00000533754, ENST00000531728, ENST00000531794, ENST00000527935, | |
| Fusion gene scores | * DoF score | 4 X 3 X 4=48 | 3 X 3 X 3=27 |
| # samples | 4 | 4 | |
| ** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/27*10)=0.567040592723894 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: CD83 [Title/Abstract] AND EHF [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 | EHF | GO:0045893 | positive regulation of transcription, DNA-templated | 10644770 |
| Tgene | EHF | GO:0045944 | positive regulation of transcription by RNA polymerase II | 17027647 |
| 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 |
| TCGA | RV | SARC | TCGA-SI-A71Q-01A | CD83 | chr6 | 14118296 | + | EHF | chr11 | 34664175 | + |
| * 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 |
| 5CDS-3UTR | ENST00000379153 | ENST00000527001 | CD83 | chr6 | 14118296 | + | EHF | chr11 | 34664175 | + |
| 5CDS-5UTR | ENST00000379153 | ENST00000257831 | CD83 | chr6 | 14118296 | + | EHF | chr11 | 34664175 | + |
| 5CDS-5UTR | ENST00000379153 | ENST00000450654 | CD83 | chr6 | 14118296 | + | EHF | chr11 | 34664175 | + |
| 5CDS-5UTR | ENST00000379153 | ENST00000530286 | CD83 | chr6 | 14118296 | + | EHF | chr11 | 34664175 | + |
| 5CDS-5UTR | ENST00000379153 | ENST00000533754 | CD83 | chr6 | 14118296 | + | EHF | chr11 | 34664175 | + |
| 5CDS-5UTR | ENST00000379153 | ENST00000531728 | CD83 | chr6 | 14118296 | + | EHF | chr11 | 34664175 | + |
| 5CDS-5UTR | ENST00000379153 | ENST00000531794 | CD83 | chr6 | 14118296 | + | EHF | chr11 | 34664175 | + |
| 5CDS-5UTR | ENST00000379153 | ENST00000527935 | CD83 | chr6 | 14118296 | + | EHF | chr11 | 34664175 | + |
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FusionProtFeatures for CD83_EHF |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CD83 | EHF |
| May play a significant role in antigen presentation orthe cellular interactions that follow lymphocyte activation. | Transcriptional activator that may play a role inregulating epithelial cell differentiation and proliferation. Mayact as a repressor for a specific subset of ETS/AP-1-responsivegenes and as a modulator of the nuclear response to mitogen-activated protein kinase signaling cascades. Binds to DNAsequences containing the consensus nucleotide core sequence GGAA.Involved in regulation of TNFRSF10B/DR5 expression through Ets-binding sequences on the TNFRSF10B/DR5 promoter. May contribute todevelopment and carcinogenesis by acting as a tumor suppressorgene or anti-oncogene. {ECO:0000269|PubMed:10527851,ECO:0000269|PubMed:10644770, ECO:0000269|PubMed:11259407,ECO:0000269|PubMed:12444029, ECO:0000269|PubMed:17027647}. |
| 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 CD83_EHF |
| 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 CD83_EHF |
| 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 |
| CD83 | EIF4E, KRAS, SLC30A1, NDST1, SLC7A2, UGCG, ATP7A, C1orf112, RADIL, CERS5, BMPR2, USP8, PTPRD, XPO6, ATP2B2, RHOBTB3, STAG1, CERK, TSC2, KIAA1524, MTOR, DAB2IP, TMEM192, GRK6, TBRG4, BMPR1A, SLC30A5, STEAP3, PIGA, MYADM, FGFR2, VANGL1, BTAF1, PI4KA, ZDHHC13, CD320, USP32, THADA, HEATR3, PDS5A, NDFIP1, STAG2, TNPO2, RNF128 | EHF | ELF3, FRZB, XRCC6, XRCC5, CST6, KPRP, APP, ARG1 |
| - 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 CD83_EHF |
| 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 CD83_EHF |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CD83 | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
| Hgene | CD83 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | CD83 | C0037274 | Dermatologic disorders | 1 | CTD_human |
| Hgene | CD83 | C0311375 | Arsenic Poisoning | 1 | CTD_human |
| Hgene | CD83 | C3495559 | Juvenile arthritis | 1 | CTD_human |
| Tgene | EHF | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
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