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Fusion gene ID: 11410 |
FusionGeneSummary for ELK3_DDIT4L |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ELK3_DDIT4L | Fusion gene ID: 11410 | Hgene | Tgene | Gene symbol | ELK3 | DDIT4L | Gene ID | 2004 | 115265 |
| Gene name | ELK3, ETS transcription factor | DNA damage inducible transcript 4 like | |
| Synonyms | ERP|NET|SAP-2|SAP2 | REDD2|Rtp801L | |
| Cytomap | 12q23.1 | 4q24 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ETS domain-containing protein Elk-3ELK3, ETS-domain protein (SRF accessory protein 2)ETS-related protein ERPETS-related protein NETSRF accessory protein 2serum response factor accessory protein 2 | DNA damage-inducible transcript 4-like proteinHIF-1 responsive protein RTP801-likeREDD-2homolog of mouse SMHS1protein regulated in development and DNA damage response 2regulated in development and DNA damage response 2 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | P41970 | Q96D03 | |
| Ensembl transtripts involved in fusion gene | ENST00000228741, ENST00000552142, ENST00000549529, | ENST00000273990, | |
| Fusion gene scores | * DoF score | 10 X 3 X 4=120 | 1 X 1 X 1=1 |
| # samples | 9 | 1 | |
| ** MAII score | log2(9/120*10)=-0.415037499278844 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: ELK3 [Title/Abstract] AND DDIT4L [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 | ELK3 | GO:0045892 | negative regulation of transcription, DNA-templated | 12933792 |
| Hgene | ELK3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12788937 |
| 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 | LIHC | TCGA-ED-A82E-01A | ELK3 | chr12 | 96617551 | + | DDIT4L | chr4 | 101111189 | - |
| * 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-5UTR | ENST00000228741 | ENST00000273990 | ELK3 | chr12 | 96617551 | + | DDIT4L | chr4 | 101111189 | - |
| 5CDS-5UTR | ENST00000552142 | ENST00000273990 | ELK3 | chr12 | 96617551 | + | DDIT4L | chr4 | 101111189 | - |
| intron-5UTR | ENST00000549529 | ENST00000273990 | ELK3 | chr12 | 96617551 | + | DDIT4L | chr4 | 101111189 | - |
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FusionProtFeatures for ELK3_DDIT4L |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ELK3 | DDIT4L |
| May be a negative regulator of transcription, but canactivate transcription when coexpressed with Ras, Src or Mos.Forms a ternary complex with the serum response factor and the ETSand SRF motifs of the Fos serum response element. | Inhibits cell growth by regulating the TOR signalingpathway upstream of the TSC1-TSC2 complex and downstream of AKT1.{ECO:0000269|PubMed:15545625, ECO:0000269|PubMed:15632201}. |
| 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 ELK3_DDIT4L |
| 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 ELK3_DDIT4L |
| 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 |
| ELK3 | TCF3, TOP1, APP | DDIT4L | SNRPG, PRKAB2, MORF4L2, CALCOCO2, LSM7, TENC1, LRRC15 |
| - 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 ELK3_DDIT4L |
| 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 ELK3_DDIT4L |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ELK3 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | DDIT4L | C0025202 | melanoma | 1 | CTD_human |
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