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Fusion gene ID: 11397 |
FusionGeneSummary for ELF2_MGARP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ELF2_MGARP | Fusion gene ID: 11397 | Hgene | Tgene | Gene symbol | ELF2 | MGARP | Gene ID | 1998 | 84709 |
| Gene name | E74 like ETS transcription factor 2 | mitochondria localized glutamic acid rich protein | |
| Synonyms | EU32|NERF|NERF-1A|NERF-1B|NERF-1a,b|NERF-2 | C4orf49|CESP-1|HUMMR|OSAP | |
| Cytomap | 4q31.1 | 4q31.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ETS-related transcription factor Elf-2E74-like factor 2 (ets domain transcription factor)ets family transcription factor ELF2Cnew Ets-related factor | protein MGARPcorneal endothelium-specific protein 1hypoxia up-regulated mitochondrial movement regulator proteinovary-specific acidic protein | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q15723 | Q8TDB4 | |
| Ensembl transtripts involved in fusion gene | ENST00000394235, ENST00000379549, ENST00000379550, ENST00000265495, ENST00000358635, ENST00000510408, ENST00000515489, | ENST00000398955, | |
| Fusion gene scores | * DoF score | 4 X 4 X 4=64 | 1 X 1 X 1=1 |
| # samples | 4 | 1 | |
| ** MAII score | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: ELF2 [Title/Abstract] AND MGARP [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 | ELF2 | GO:0006357 | regulation of transcription by RNA polymerase II | 8756667 |
| Hgene | ELF2 | GO:0045893 | positive regulation of transcription, DNA-templated | 8756667 |
| 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 | LD | ESCA | TCGA-2H-A9GG-01A | ELF2 | chr4 | 139979823 | - | MGARP | chr4 | 140189919 | - |
| * 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-3CDS | ENST00000394235 | ENST00000398955 | ELF2 | chr4 | 139979823 | - | MGARP | chr4 | 140189919 | - |
| intron-3CDS | ENST00000379549 | ENST00000398955 | ELF2 | chr4 | 139979823 | - | MGARP | chr4 | 140189919 | - |
| intron-3CDS | ENST00000379550 | ENST00000398955 | ELF2 | chr4 | 139979823 | - | MGARP | chr4 | 140189919 | - |
| intron-3CDS | ENST00000265495 | ENST00000398955 | ELF2 | chr4 | 139979823 | - | MGARP | chr4 | 140189919 | - |
| intron-3CDS | ENST00000358635 | ENST00000398955 | ELF2 | chr4 | 139979823 | - | MGARP | chr4 | 140189919 | - |
| intron-3CDS | ENST00000510408 | ENST00000398955 | ELF2 | chr4 | 139979823 | - | MGARP | chr4 | 140189919 | - |
| intron-3CDS | ENST00000515489 | ENST00000398955 | ELF2 | chr4 | 139979823 | - | MGARP | chr4 | 140189919 | - |
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FusionProtFeatures for ELF2_MGARP |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ELF2 | MGARP |
| Isoform 1 transcriptionally activates the LYN and BLKpromoters and acts synergistically with RUNX1 to transactivate theBLK promoter. Isoform 2 may function in repression of RUNX1-mediatedtransactivation. | Plays a role in the trafficking of mitochondria alongmicrotubules. Regulates the kinesin-mediated axonal transport ofmitochondria to nerve terminals along microtubules during hypoxia.Participates in the translocation of TRAK2/GRIF1 from thecytoplasm to the mitochondrion. Also plays a role insteroidogenesis through maintenance of mitochondrial abundance andmorphology (By similarity). {ECO:0000250}. |
| 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 ELF2_MGARP |
| 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 ELF2_MGARP |
| 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 |
| ELF2 | RUNX1, ZBTB32, BAP1, ELAVL1, APP, HSPBP1, PSME3, SPINT2, PRPS1, PSMC3, HIST1H2BG, HIST1H3A, DYNLT1, IKZF5, NFATC2IP, TRIM25 | MGARP | EGFR, DAPP1, DUSP6 |
| - 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 ELF2_MGARP |
| 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 ELF2_MGARP |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ELF2 | C3495559 | Juvenile arthritis | 1 | CTD_human |
| Tgene | MGARP | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
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