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Fusion gene ID: 11407 |
FusionGeneSummary for ELK1_PPOX |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ELK1_PPOX | Fusion gene ID: 11407 | Hgene | Tgene | Gene symbol | ELK1 | PPOX | Gene ID | 131096 | 5498 |
| Gene name | potassium voltage-gated channel subfamily H member 8 | protoporphyrinogen oxidase | |
| Synonyms | ELK|ELK1|Kv12.1|elk3 | PPO|V290M|VP | |
| Cytomap | 3p24.3 | 1q23.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | potassium voltage-gated channel subfamily H member 8ELK channel 3ether-a-go-go-like potassium channel 1ether-a-go-go-like potassium channel 3hElk1potassium channel, voltage gated eag related subfamily H, member 8potassium voltage-gated channel, subf | protoporphyrinogen oxidase | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P19419 | P50336 | |
| Ensembl transtripts involved in fusion gene | ENST00000247161, ENST00000592066, ENST00000376983, ENST00000343894, ENST00000468956, | ENST00000352210, ENST00000367999, ENST00000544598, ENST00000495483, ENST00000535223, ENST00000432542, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 2 X 2 X 2=8 |
| # samples | 2 | 2 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: ELK1 [Title/Abstract] AND PPOX [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 | PPOX | GO:0006779 | porphyrin-containing compound biosynthetic process | 7713909 |
| Tgene | PPOX | GO:0006783 | heme biosynthetic process | 7713909 |
| Tgene | PPOX | GO:0055114 | oxidation-reduction process | 7713909 |
| 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 | DC302335 | ELK1 | chrX | 47509894 | - | PPOX | chr1 | 161146355 | - |
| * 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 | ENST00000247161 | ENST00000352210 | ELK1 | chrX | 47509894 | - | PPOX | chr1 | 161146355 | - |
| intron-intron | ENST00000247161 | ENST00000367999 | ELK1 | chrX | 47509894 | - | PPOX | chr1 | 161146355 | - |
| intron-intron | ENST00000247161 | ENST00000544598 | ELK1 | chrX | 47509894 | - | PPOX | chr1 | 161146355 | - |
| intron-intron | ENST00000247161 | ENST00000495483 | ELK1 | chrX | 47509894 | - | PPOX | chr1 | 161146355 | - |
| intron-intron | ENST00000247161 | ENST00000535223 | ELK1 | chrX | 47509894 | - | PPOX | chr1 | 161146355 | - |
| intron-intron | ENST00000247161 | ENST00000432542 | ELK1 | chrX | 47509894 | - | PPOX | chr1 | 161146355 | - |
| intron-intron | ENST00000592066 | ENST00000352210 | ELK1 | chrX | 47509894 | - | PPOX | chr1 | 161146355 | - |
| intron-intron | ENST00000592066 | ENST00000367999 | ELK1 | chrX | 47509894 | - | PPOX | chr1 | 161146355 | - |
| intron-intron | ENST00000592066 | ENST00000544598 | ELK1 | chrX | 47509894 | - | PPOX | chr1 | 161146355 | - |
| intron-intron | ENST00000592066 | ENST00000495483 | ELK1 | chrX | 47509894 | - | PPOX | chr1 | 161146355 | - |
| intron-intron | ENST00000592066 | ENST00000535223 | ELK1 | chrX | 47509894 | - | PPOX | chr1 | 161146355 | - |
| intron-intron | ENST00000592066 | ENST00000432542 | ELK1 | chrX | 47509894 | - | PPOX | chr1 | 161146355 | - |
| intron-intron | ENST00000376983 | ENST00000352210 | ELK1 | chrX | 47509894 | - | PPOX | chr1 | 161146355 | - |
| intron-intron | ENST00000376983 | ENST00000367999 | ELK1 | chrX | 47509894 | - | PPOX | chr1 | 161146355 | - |
| intron-intron | ENST00000376983 | ENST00000544598 | ELK1 | chrX | 47509894 | - | PPOX | chr1 | 161146355 | - |
| intron-intron | ENST00000376983 | ENST00000495483 | ELK1 | chrX | 47509894 | - | PPOX | chr1 | 161146355 | - |
| intron-intron | ENST00000376983 | ENST00000535223 | ELK1 | chrX | 47509894 | - | PPOX | chr1 | 161146355 | - |
| intron-intron | ENST00000376983 | ENST00000432542 | ELK1 | chrX | 47509894 | - | PPOX | chr1 | 161146355 | - |
| intron-intron | ENST00000343894 | ENST00000352210 | ELK1 | chrX | 47509894 | - | PPOX | chr1 | 161146355 | - |
| intron-intron | ENST00000343894 | ENST00000367999 | ELK1 | chrX | 47509894 | - | PPOX | chr1 | 161146355 | - |
| intron-intron | ENST00000343894 | ENST00000544598 | ELK1 | chrX | 47509894 | - | PPOX | chr1 | 161146355 | - |
| intron-intron | ENST00000343894 | ENST00000495483 | ELK1 | chrX | 47509894 | - | PPOX | chr1 | 161146355 | - |
| intron-intron | ENST00000343894 | ENST00000535223 | ELK1 | chrX | 47509894 | - | PPOX | chr1 | 161146355 | - |
| intron-intron | ENST00000343894 | ENST00000432542 | ELK1 | chrX | 47509894 | - | PPOX | chr1 | 161146355 | - |
| intron-intron | ENST00000468956 | ENST00000352210 | ELK1 | chrX | 47509894 | - | PPOX | chr1 | 161146355 | - |
| intron-intron | ENST00000468956 | ENST00000367999 | ELK1 | chrX | 47509894 | - | PPOX | chr1 | 161146355 | - |
| intron-intron | ENST00000468956 | ENST00000544598 | ELK1 | chrX | 47509894 | - | PPOX | chr1 | 161146355 | - |
| intron-intron | ENST00000468956 | ENST00000495483 | ELK1 | chrX | 47509894 | - | PPOX | chr1 | 161146355 | - |
| intron-intron | ENST00000468956 | ENST00000535223 | ELK1 | chrX | 47509894 | - | PPOX | chr1 | 161146355 | - |
| intron-intron | ENST00000468956 | ENST00000432542 | ELK1 | chrX | 47509894 | - | PPOX | chr1 | 161146355 | - |
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FusionProtFeatures for ELK1_PPOX |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ELK1 | PPOX |
| Transcription factor that binds to purine-rich DNAsequences. Forms a ternary complex with SRF and the ETS and SRFmotifs of the serum response element (SRE) on the promoter regionof immediate early genes such as FOS and IER2. Induces target genetranscription upon JNK-signaling pathway stimulation (Bysimilarity). {ECO:0000250|UniProtKB:A4GTP4,ECO:0000269|PubMed:1630903, ECO:0000269|PubMed:7889942}. | Catalyzes the 6-electron oxidation ofprotoporphyrinogen-IX to form protoporphyrin-IX.{ECO:0000269|PubMed:21048046, ECO:0000269|PubMed:23467411,ECO:0000269|PubMed:7713909}. |
| 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 ELK1_PPOX |
| 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 ELK1_PPOX |
| 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 ELK1_PPOX |
| 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 ELK1_PPOX |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | PPOX | C0162532 | Variegate Porphyria | 23 | ORPHANET;UNIPROT |
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