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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:ETV6-FRK (FusionGDB2 ID:HG2120TG2444) |
Fusion Gene Summary for ETV6-FRK |
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Fusion gene information | Fusion gene name: ETV6-FRK | Fusion gene ID: hg2120tg2444 | Hgene | Tgene | Gene symbol | ETV6 | FRK | Gene ID | 2120 | 2444 |
Gene name | ETS variant transcription factor 6 | fyn related Src family tyrosine kinase | |
Synonyms | TEL|TEL/ABL|THC5 | GTK|PTK5|RAK | |
Cytomap | ('ETV6')('FRK') 12p13.2 | 6q22.1 | |
Type of gene | protein-coding | protein-coding | |
Description | transcription factor ETV6ETS translocation variant 6ETS variant 6ETS-related protein Tel1TEL1 oncogeneets variant gene 6 (TEL oncogene) | tyrosine-protein kinase FRKPTK5 protein tyrosine kinase 5fyn-related kinasenuclear tyrosine protein kinase RAKprotein-tyrosine kinase 5 | |
Modification date | 20200313 | 20200315 | |
UniProtAcc | P41212 | . | |
Ensembl transtripts involved in fusion gene | ENST00000396373, ENST00000544715, | ENST00000396373, ENST00000544715, | |
Fusion gene scores | * DoF score | 59 X 37 X 25=54575 | 3 X 3 X 3=27 |
# samples | 58 | 3 | |
** MAII score | log2(58/54575*10)=-6.55604351475058 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: ETV6 [Title/Abstract] AND FRK [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | |||
Anticipated loss of major functional domain due to fusion event. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ETV6 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 10514502 |
Tgene | FRK | GO:0000122 | negative regulation of transcription by RNA polymerase II | 12837246 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerKB4 | . | . | ETV6 | chr12 | 12006360 | + | FRK | chr6 | 12006360 | - |
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Fusion Gene ORF analysis for ETV6-FRK |
![]() * 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 | ENST00000396373 | ENST00000538210 | ETV6 | chr12 | 12006360 | + | FRK | chr6 | 12006360 | - |
intron-intron | ENST00000396373 | ENST00000606080 | ETV6 | chr12 | 12006360 | + | FRK | chr6 | 12006360 | - |
intron-intron | ENST00000544715 | ENST00000538210 | ETV6 | chr12 | 12006360 | + | FRK | chr6 | 12006360 | - |
intron-intron | ENST00000544715 | ENST00000606080 | ETV6 | chr12 | 12006360 | + | FRK | chr6 | 12006360 | - |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for ETV6-FRK |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for ETV6-FRK |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:/:) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
ETV6 | . |
FUNCTION: Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignant transformation. {ECO:0000269|PubMed:25581430}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
![]() * 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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Fusion Gene Sequence for ETV6-FRK |
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Fusion Gene PPI Analysis for ETV6-FRK |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for ETV6-FRK |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for ETV6-FRK |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ETV6 | C4015537 | THROMBOCYTOPENIA 5 | 4 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | ETV6 | C0023485 | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | 3 | CTD_human |
Hgene | ETV6 | C0040034 | Thrombocytopenia | 3 | CTD_human;GENOMICS_ENGLAND |
Hgene | ETV6 | C0023480 | Leukemia, Myelomonocytic, Chronic | 2 | ORPHANET |
Hgene | ETV6 | C1332965 | Congenital Mesoblastic Nephroma | 2 | ORPHANET |
Hgene | ETV6 | C0006413 | Burkitt Lymphoma | 1 | ORPHANET |
Hgene | ETV6 | C0013146 | Drug abuse | 1 | CTD_human |
Hgene | ETV6 | C0013170 | Drug habituation | 1 | CTD_human |
Hgene | ETV6 | C0013222 | Drug Use Disorders | 1 | CTD_human |
Hgene | ETV6 | C0023452 | Childhood Acute Lymphoblastic Leukemia | 1 | CTD_human |
Hgene | ETV6 | C0023453 | L2 Acute Lymphoblastic Leukemia | 1 | CTD_human |
Hgene | ETV6 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CGI;CTD_human;GENOMICS_ENGLAND |
Hgene | ETV6 | C0029231 | Organic Mental Disorders, Substance-Induced | 1 | CTD_human |
Hgene | ETV6 | C0038580 | Substance Dependence | 1 | CTD_human |
Hgene | ETV6 | C0038586 | Substance Use Disorders | 1 | CTD_human |
Hgene | ETV6 | C0087031 | Juvenile-Onset Still Disease | 1 | CTD_human |
Hgene | ETV6 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
Hgene | ETV6 | C0238463 | Papillary thyroid carcinoma | 1 | ORPHANET |
Hgene | ETV6 | C0376544 | Hematopoietic Neoplasms | 1 | CTD_human |
Hgene | ETV6 | C0376545 | Hematologic Neoplasms | 1 | CTD_human |
Hgene | ETV6 | C0740858 | Substance abuse problem | 1 | CTD_human |
Hgene | ETV6 | C1292769 | Precursor B-cell lymphoblastic leukemia | 1 | ORPHANET |
Hgene | ETV6 | C1510472 | Drug Dependence | 1 | CTD_human |
Hgene | ETV6 | C1832388 | Platelet Disorder, Familial, with Associated Myeloid Malignancy | 1 | ORPHANET |
Hgene | ETV6 | C1838656 | Macrocytosis, Familial | 1 | CTD_human |
Hgene | ETV6 | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 1 | CTD_human |
Hgene | ETV6 | C3495559 | Juvenile arthritis | 1 | CTD_human |
Hgene | ETV6 | C3714758 | Juvenile psoriatic arthritis | 1 | CTD_human |
Hgene | ETV6 | C4316881 | Prescription Drug Abuse | 1 | CTD_human |
Hgene | ETV6 | C4552091 | Polyarthritis, Juvenile, Rheumatoid Factor Negative | 1 | CTD_human |
Hgene | ETV6 | C4704862 | Polyarthritis, Juvenile, Rheumatoid Factor Positive | 1 | CTD_human |
Tgene | C0271650 | Impaired glucose tolerance | 1 | CTD_human |