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Fusion Protein:ETV6-ANO2 |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: ETV6-ANO2 | FusionPDB ID: 27702 | FusionGDB2.0 ID: 27702 | Hgene | Tgene | Gene symbol | ETV6 | ANO2 | Gene ID | 2120 | 57101 |
Gene name | ETS variant transcription factor 6 | anoctamin 2 | |
Synonyms | TEL|TEL/ABL|THC5 | C12orf3|TMEM16B | |
Cytomap | 12p13.2 | 12p13.31 | |
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) | anoctamin-2anoctamin 2, calcium activated chloride channeltransmembrane protein 16B (eight membrane-spanning domains) | |
Modification date | 20200313 | 20200329 | |
UniProtAcc | P41212 | Q9NQ90 | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000544715, ENST00000396373, | ENST00000327087, ENST00000356134, ENST00000546188, ENST00000538154, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 59 X 37 X 25=54575 | 12 X 11 X 8=1056 |
# samples | 58 | 15 | |
** MAII score | log2(58/54575*10)=-6.55604351475058 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(15/1056*10)=-2.81557542886257 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context (manual curation of fusion genes in FusionPDB) | PubMed: ETV6 [Title/Abstract] AND ANO2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ETV6(11803094)-ANO2(5941769), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | ETV6-ANO2 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-ANO2 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-ANO2 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. ETV6-ANO2 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. ETV6-ANO2 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. ETV6-ANO2 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF. ETV6-ANO2 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted 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 |
![]() * 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 Gene Sample Information |
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![]() * 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 |
ChimerDB4 | STAD | TCGA-HU-A4GY-01A | ETV6 | chr12 | 11803094 | + | ANO2 | chr12 | 5941769 | - |
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Fusion ORF Analysis |
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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 | + | ENST00000327087 | ANO2 | chr12 | 5941769 | - | 3331 | 307 | 274 | 2682 | 802 |
ENST00000396373 | ETV6 | chr12 | 11803094 | + | ENST00000356134 | ANO2 | chr12 | 5941769 | - | 3328 | 307 | 274 | 2682 | 802 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000396373 | ENST00000327087 | ETV6 | chr12 | 11803094 | + | ANO2 | chr12 | 5941769 | - | 0.001174021 | 0.99882597 |
ENST00000396373 | ENST00000356134 | ETV6 | chr12 | 11803094 | + | ANO2 | chr12 | 5941769 | - | 0.001180441 | 0.99881953 |
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Fusion Amino Acid Sequences |
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>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >27702_27702_1_ETV6-ANO2_ETV6_chr12_11803094_ENST00000396373_ANO2_chr12_5941769_ENST00000327087_length(amino acids)=802AA_BP=11 MSETPAQCSIKMYEIKAGGSIAKKFSAALQKLSSHLQPRVPEHSNNKMKNLSYPFSREKMYLYNIQEKDTFFDNATRSRIVHEILKRTAC SRANNTMGINSLIANNIYEAAYPLHDGEYDSPEDDMNDRKLLYQEWARYGVFYKFQPIDLIRKYFGEKIGLYFAWLGLYTSFLIPSSVIG VIVFLYGCATIEEDIPSREMCDQQNAFTMCPLCDKSCDYWNLSSACGTAQASHLFDNPATVFFSIFMALWATMFLENWKRLQMRLGYFWD LTGIEEEEERAQEHSRPEYETKVREKMLKESNQSAVQKLETNTTECGDEDDEDKLTWKDRFPGYLMNFASILFMIALTFSIVFGVIVYRI TTAAALSLNKATRSNVRVTVTATAVIINLVVILILDEIYGAVAKWLTKIEVPKTEQTFEERLILKAFLLKFVNAYSPIFYVAFFKGRFVG RPGSYVYVFDGYRMEECAPGGCLMELCIQLSIIMLGKQLIQNNIFEIGVPKLKKLFRKLKDETEAGETDSAHSKHPEQWDLDYSLEPYTG LTPEYMEMIIQFGFVTLFVASFPLAPVFALLNNVIEVRLDAKKFVTELRRPDAVRTKDIGIWFDILSGIGKFSVISNAFVIAITSDFIPR LVYQYSYSHNGTLHGFVNHTLSFFNVSQLKEGTQPENSQFDQEVQFCRFKDYREPPWAPNPYEFSKQYWFILSARLAFVIIFQNLVMFLS -------------------------------------------------------------- >27702_27702_2_ETV6-ANO2_ETV6_chr12_11803094_ENST00000396373_ANO2_chr12_5941769_ENST00000356134_length(amino acids)=802AA_BP=11 MSETPAQCSIKMYEIKAGGSIAKKFSAALQKLSSHLQPRVPEHSNNKMKNLSYPFSREKMYLYNIQEKDTFFDNATRSRIVHEILKRTAC SRANNTMGINSLIANNIYEAAYPLHDGEYDSPEDDMNDRKLLYQEWARYGVFYKFQPIDLIRKYFGEKIGLYFAWLGLYTSFLIPSSVIG VIVFLYGCATIEEDIPSREMCDQQNAFTMCPLCDKSCDYWNLSSACGTAQASHLFDNPATVFFSIFMALWATMFLENWKRLQMRLGYFWD LTGIEEEEERAQEHSRPEYETKVREKMLKESNQSAVQKLETNTTECGDEDDEDKLTWKDRFPGYLMNFASILFMIALTFSIVFGVIVYRI TTAAALSLNKATRSNVRVTVTATAVIINLVVILILDEIYGAVAKWLTKIEVPKTEQTFEERLILKAFLLKFVNAYSPIFYVAFFKGRFVG RPGSYVYVFDGYRMEECAPGGCLMELCIQLSIIMLGKQLIQNNIFEIGVPKLKKLFRKLKDETEAGETDSAHSKHPEQWDLDYSLEPYTG LTPEYMEMIIQFGFVTLFVASFPLAPVFALLNNVIEVRLDAKKFVTELRRPDAVRTKDIGIWFDILSGIGKFSVISNAFVIAITSDFIPR LVYQYSYSHNGTLHGFVNHTLSFFNVSQLKEGTQPENSQFDQEVQFCRFKDYREPPWAPNPYEFSKQYWFILSARLAFVIIFQNLVMFLS -------------------------------------------------------------- |
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Fusion Protein Functional Features |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr12:11803094/chr12:5941769) - 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 | ANO2 |
FUNCTION: Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignant transformation. {ECO:0000269|PubMed:25581430}. | FUNCTION: Calcium-activated chloride channel (CaCC) which may play a role in olfactory signal transduction. Odorant molecules bind to odor-sensing receptors (OSRs), leading to an increase in calcium entry that activates CaCC current which amplifies the depolarization of the OSR cells, ANO2 seems to be the underlying chloride channel involved in this process. May mediate light perception amplification in retina. {ECO:0000269|PubMed:19474308, ECO:0000269|PubMed:20056604, ECO:0000269|PubMed:21890523, ECO:0000269|PubMed:21984732}. |
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- 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 |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000327087 | 3 | 26 | 1001_1003 | 207.0 | 999.0 | Motif | Note=DLG4 binding (PDZ) | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000356134 | 4 | 27 | 1001_1003 | 208.0 | 1000.0 | Motif | Note=DLG4 binding (PDZ) | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000327087 | 3 | 26 | 387_434 | 207.0 | 999.0 | Topological domain | Extracellular | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000327087 | 3 | 26 | 456_538 | 207.0 | 999.0 | Topological domain | Cytoplasmic | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000327087 | 3 | 26 | 560_582 | 207.0 | 999.0 | Topological domain | Extracellular | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000327087 | 3 | 26 | 604_623 | 207.0 | 999.0 | Topological domain | Cytoplasmic | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000327087 | 3 | 26 | 645_748 | 207.0 | 999.0 | Topological domain | Extracellular | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000327087 | 3 | 26 | 770_801 | 207.0 | 999.0 | Topological domain | Cytoplasmic | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000327087 | 3 | 26 | 823_907 | 207.0 | 999.0 | Topological domain | Extracellular | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000327087 | 3 | 26 | 929_1003 | 207.0 | 999.0 | Topological domain | Cytoplasmic | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000356134 | 4 | 27 | 387_434 | 208.0 | 1000.0 | Topological domain | Extracellular | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000356134 | 4 | 27 | 456_538 | 208.0 | 1000.0 | Topological domain | Cytoplasmic | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000356134 | 4 | 27 | 560_582 | 208.0 | 1000.0 | Topological domain | Extracellular | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000356134 | 4 | 27 | 604_623 | 208.0 | 1000.0 | Topological domain | Cytoplasmic | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000356134 | 4 | 27 | 645_748 | 208.0 | 1000.0 | Topological domain | Extracellular | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000356134 | 4 | 27 | 770_801 | 208.0 | 1000.0 | Topological domain | Cytoplasmic | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000356134 | 4 | 27 | 823_907 | 208.0 | 1000.0 | Topological domain | Extracellular | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000356134 | 4 | 27 | 929_1003 | 208.0 | 1000.0 | Topological domain | Cytoplasmic | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000327087 | 3 | 26 | 366_386 | 207.0 | 999.0 | Transmembrane | Helical | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000327087 | 3 | 26 | 435_455 | 207.0 | 999.0 | Transmembrane | Helical | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000327087 | 3 | 26 | 539_559 | 207.0 | 999.0 | Transmembrane | Helical | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000327087 | 3 | 26 | 583_603 | 207.0 | 999.0 | Transmembrane | Helical | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000327087 | 3 | 26 | 624_644 | 207.0 | 999.0 | Transmembrane | Helical | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000327087 | 3 | 26 | 749_769 | 207.0 | 999.0 | Transmembrane | Helical | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000327087 | 3 | 26 | 802_822 | 207.0 | 999.0 | Transmembrane | Helical | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000327087 | 3 | 26 | 908_928 | 207.0 | 999.0 | Transmembrane | Helical | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000356134 | 4 | 27 | 366_386 | 208.0 | 1000.0 | Transmembrane | Helical | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000356134 | 4 | 27 | 435_455 | 208.0 | 1000.0 | Transmembrane | Helical | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000356134 | 4 | 27 | 539_559 | 208.0 | 1000.0 | Transmembrane | Helical | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000356134 | 4 | 27 | 583_603 | 208.0 | 1000.0 | Transmembrane | Helical | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000356134 | 4 | 27 | 624_644 | 208.0 | 1000.0 | Transmembrane | Helical | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000356134 | 4 | 27 | 749_769 | 208.0 | 1000.0 | Transmembrane | Helical | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000356134 | 4 | 27 | 802_822 | 208.0 | 1000.0 | Transmembrane | Helical | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000356134 | 4 | 27 | 908_928 | 208.0 | 1000.0 | Transmembrane | Helical |
- 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 |
Hgene | ETV6 | chr12:11803094 | chr12:5941769 | ENST00000396373 | + | 1 | 8 | 339_420 | 11.0 | 453.0 | DNA binding | ETS |
Hgene | ETV6 | chr12:11803094 | chr12:5941769 | ENST00000396373 | + | 1 | 8 | 40_124 | 11.0 | 453.0 | Domain | PNT |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000327087 | 3 | 26 | 1_365 | 207.0 | 999.0 | Topological domain | Cytoplasmic | |
Tgene | ANO2 | chr12:11803094 | chr12:5941769 | ENST00000356134 | 4 | 27 | 1_365 | 208.0 | 1000.0 | Topological domain | Cytoplasmic |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
ETV6 | KAT5, GAB2, ETV6, GRB2, CRKL, ACTA1, HDAC9, FLI1, FBXL6, SKP1, L3MBTL1, IRF8, NCOR1, SIN3A, HDAC3, UBE2I, ELAVL1, PDGFRB, SUMO1, SOCS1, SOCS3, TRAF3, SOX2, HDAC6, PIN1, AP1M1, WDYHV1, LRP6, LRP5, NID2, ETV7, USP7, VPS26B, NFATC2, EGLN3, NKX2-1, TRAF2, AXIN1, ESR2, LMNA, TP53BP1, BRCA1, MDC1, KIAA1429, WWP2, ESR1, BRD4, NFE2L2, MAD2L1, B4GALT2, KLHL9, KLHL13, SUMO2, ARHGAP32, SEC16A, XPOT, PIAS2, CEP152, NUP214, NUP62, NUP98, SEC13, RBM11, ECH1, ZNF146, TRIP6, CEP85, NUP54, TAB3, ALMS1, CEP192, PPIL4, RQCD1, SDCCAG3, NUP88, TBL1Y, KIAA1671, C2orf44, GRPEL1, TNRC6C, MID1IP1, CYLD, ZMYM2, LIMD1, SPATA2, TNRC6B, TIMM13, FLOT1, LGALS3BP, FLOT2, HNRNPUL1, |
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Gene | STRING network |
ETV6 | ![]() |
ANO2 |
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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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Related Drugs to ETV6-ANO2 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to ETV6-ANO2 |
![]() (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 |