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Fusion Protein:ETV6-CIDEA |
Fusion Gene and Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: ETV6-CIDEA | FusionPDB ID: 27709 | FusionGDB2.0 ID: 27709 | Hgene | Tgene | Gene symbol | ETV6 | CIDEA | Gene ID | 2120 | 1149 |
Gene name | ETS variant transcription factor 6 | cell death inducing DFFA like effector a | |
Synonyms | TEL|TEL/ABL|THC5 | CIDE-A | |
Cytomap | 12p13.2 | 18p11.21|18 | |
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) | cell death activator CIDE-A | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | P41212 Main function of 5'-partner protein: FUNCTION: Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignant transformation. {ECO:0000269|PubMed:25581430}. | . | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000544715, ENST00000396373, | ENST00000320477, ENST00000521296, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 59 X 37 X 25=54575 | 3 X 4 X 3=36 |
# 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(3/36*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Fusion gene context | PubMed: ETV6 [Title/Abstract] AND CIDEA [Title/Abstract] AND fusion [Title/Abstract] | ||
Fusion neoantigen context | PubMed: ETV6 [Title/Abstract] AND CIDEA [Title/Abstract] AND neoantigen [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ETV6(11803094)-CIDEA(12274092), # samples:3 | ||
Anticipated loss of major functional domain due to fusion event. | ETV6-CIDEA seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. ETV6-CIDEA seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. |
* 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 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr12:11803094/chr18:12274092) - 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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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Amino Acid Sequences |
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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) |
ENST00000396373 | ETV6 | chr12 | 11803094 | + | ENST00000320477 | CIDEA | chr18 | 12274092 | + | 740 | 307 | 534 | 1 | 178 |
ENST00000396373 | ETV6 | chr12 | 11803091 | + | ENST00000320477 | CIDEA | chr18 | 12274089 | + | 740 | 307 | 534 | 1 | 178 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000396373 | ENST00000320477 | ETV6 | chr12 | 11803094 | + | CIDEA | chr18 | 12274092 | + | 0.03799611 | 0.96200395 |
ENST00000396373 | ENST00000320477 | ETV6 | chr12 | 11803091 | + | CIDEA | chr18 | 12274089 | + | 0.03799611 | 0.96200395 |
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Get the fusion protein sequences from here. |
Fusion protein sequence information is available in the fasta format. >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP |
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Fusion Protein Breakpoint Sequences for ETV6-CIDEA |
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Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | Length(fusion protein) | BP in fusion protein | Peptide |
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Potential FusionNeoAntigen Information of ETV6-CIDEA in HLA I |
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![]() * We used NetMHCpan v4.1 (%rank<0.5) and deepHLApan v1.1 (immunogenic score>0.5) |
Fusion gene | Hchr | Hbp | Tgene | Tchr | Tbp | HLA I | FusionNeoAntigen peptide | Binding score | Immunogenic score | Neoantigen start (at BP 13) | Neoantigen end (at BP 13) |
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Potential FusionNeoAntigen Information of ETV6-CIDEA in HLA II |
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![]() * We used NetMHCIIpan v4.1 (%rank<0.5). |
Fusion gene | Hchr | Hbp | Tgene | Tchr | Tbp | HLA II | FusionNeoAntigen peptide | Neoantigen start (at BP 13) | Neoantigen end (at BP 13) |
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Fusion breakpoint peptide structures of ETV6-CIDEA |
![]() * The minimum length of the amino acid sequence in RoseTTAFold is 14AA. Here, we predicted the 14AA fusion protein breakpoint sequence not the fusion neoantigen peptide, which is shorter than 14 AA. |
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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of ETV6-CIDEA |
![]() * We used Glide to predict the interaction between HLAs and neoantigens. |
HLA allele | PDB ID | File name | BPseq | Docking score | Glide score |
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Vaccine Design for the FusionNeoAntigens of ETV6-CIDEA |
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Fusion gene | Hchr | Hbp | Tchr | Tbp | Start in +/-13AA | End in +/-13AA | FusionNeoAntigen peptide sequence | FusionNeoAntigen RNA sequence |
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Fusion gene | Hchr | Hbp | Tchr | Tbp | Start in +/-13AA | End in +/-13AA | FusionNeoAntigen peptide | FusionNEoAntigen RNA sequence |
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Information of the samples that have these potential fusion neoantigens of ETV6-CIDEA |
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Cancer type | Fusion gene | Hchr | Hbp | Henst | Tchr | Tbp | Tenst | Sample |
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Potential target of CAR-T therapy development for ETV6-CIDEA |
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![]() * Minus value of BPloci means that the break point is located before the CDS. |
- In-frame and retained 'Transmembrane'. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
![]() * We used DeepLoc 1.0. The order of the X-axis of the barplot is as follows: Entry_ID, Localization, Type, Nucleus, Cytoplasm, Extracellular, Mitochondrion, Cell_membrane, Endoplasmic_reticulum, Plastid, Golgi.apparatus, Lysosome.Vacuole, Peroxisome. Y-axis is the output score of DeepLoc. Clicking the image will open a new tab with a large image. |
Hgene | Hchr | Hbp | Henst | Tgene | Tchr | Tbp | Tenst | DeepLoc result |
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Related Drugs to ETV6-CIDEA |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to ETV6-CIDEA |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (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 |