LOCUS       NM_001987               6144 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens ETS variant transcription factor 6 (ETV6), transcript
            variant 1, mRNA.
ACCESSION   NM_001987
VERSION     NM_001987.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6144)
  AUTHORS   Xu,W., Tian,F., Tai,X., Song,G., Liu,Y., Fan,L., Weng,X., Yang,E.,
            Wang,M., Bornhauser,M., Zhang,C., Lock,R.B., Wong,J.W.H., Wang,J.,
            Jing,D. and Mi,J.Q.
  TITLE     ETV6::ACSL6 translocation-driven super-enhancer activation leads to
            eosinophilia in acute lymphoblastic leukemia through IL-3
            overexpression
  JOURNAL   Haematologica 109 (8), 2445-2458 (2024)
   PUBMED   38356460
  REMARK    GeneRIF: ETV6::ACSL6 translocation-driven super-enhancer activation
            leads to eosinophilia in acute lymphoblastic leukemia through IL-3
            overexpression.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 6144)
  AUTHORS   Xue,S., Sun,H.P., Huang,X.B., Chen,X., Wang,T., Ma,W., Tian,Y.,
            Pan,Z.L., Li,L.H., Zhang,L., Liu,H.X. and Cao,X.Y.
  TITLE     Characteristics and literature review of ETV6::ABL1 fusion
            gene-positive acute myeloid leukemia
  JOURNAL   Int J Hematol 119 (5), 564-572 (2024)
   PUBMED   38441775
  REMARK    GeneRIF: Characteristics and literature review of ETV6::ABL1 fusion
            gene-positive acute myeloid leukemia.
            Review article
REFERENCE   3  (bases 1 to 6144)
  AUTHORS   Mueller,S.B., Pikman,Y., Tasian,S.K., Silverman,L.B., Harris,M.H.
            and Tsai,H.K.
  TITLE     ETV6 fusions from insertions of exons 3-5 in pediatric hematologic
            malignancies
  JOURNAL   Haematologica 108 (12), 3471-3476 (2023)
   PUBMED   37381775
  REMARK    GeneRIF: ETV6 fusions from insertions of exons 3-5 in pediatric
            hematologic malignancies.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 6144)
  AUTHORS   Klubickova,N., Mosaieby,E., Ptakova,N., Trinquet,A., Lae,M.,
            Costes-Martineau,V. and Skalova,A.
  TITLE     High-grade non-intestinal type sinonasal adenocarcinoma with
            ETV6::NTRK3 fusion, distinct from secretory carcinoma by
            immunoprofile and morphology
  JOURNAL   Virchows Arch 483 (2), 187-195 (2023)
   PUBMED   37415052
  REMARK    GeneRIF: High-grade non-intestinal type sinonasal adenocarcinoma
            with ETV6::NTRK3 fusion, distinct from secretory carcinoma by
            immunoprofile and morphology.
REFERENCE   5  (bases 1 to 6144)
  AUTHORS   Gurney,M., Chekkaf,I., Baranwal,A., Basmaci,R., Katamesh,B.,
            Greipp,P., Foran,J.M., Badar,T., Mangaonkar,A.A., Begna,K.H.,
            Gangat,N., Patnaik,M.M., Litzow,M.R., Shah,M.V., Viswanatha,D.S.,
            He,R., Alkhateeb,H.B. and Al-Kali,A.
  TITLE     The clinical and molecular spectrum of ETV6 mutated myeloid
            neoplasms
  JOURNAL   Br J Haematol 202 (2), 279-283 (2023)
   PUBMED   37144345
  REMARK    GeneRIF: The clinical and molecular spectrum of ETV6 mutated
            myeloid neoplasms.
REFERENCE   6  (bases 1 to 6144)
  AUTHORS   Romana,S.P., Mauchauffe,M., Le Coniat,M., Chumakov,I., Le
            Paslier,D., Berger,R. and Bernard,O.A.
  TITLE     The t(12;21) of acute lymphoblastic leukemia results in a tel-AML1
            gene fusion
  JOURNAL   Blood 85 (12), 3662-3670 (1995)
   PUBMED   7780150
REFERENCE   7  (bases 1 to 6144)
  AUTHORS   Golub,T.R., Barker,G.F., Bohlander,S.K., Hiebert,S.W., Ward,D.C.,
            Bray-Ward,P., Morgan,E., Raimondi,S.C., Rowley,J.D. and
            Gilliland,D.G.
  TITLE     Fusion of the TEL gene on 12p13 to the AML1 gene on 21q22 in acute
            lymphoblastic leukemia
  JOURNAL   Proc Natl Acad Sci U S A 92 (11), 4917-4921 (1995)
   PUBMED   7761424
REFERENCE   8  (bases 1 to 6144)
  AUTHORS   Buijs,A., Sherr,S., van Baal,S., van Bezouw,S., van der Plas,D.,
            Geurts van Kessel,A., Riegman,P., Lekanne Deprez,R., Zwarthoff,E.,
            Hagemeijer,A. et al.
  TITLE     Translocation (12;22) (p13;q11) in myeloproliferative disorders
            results in fusion of the ETS-like TEL gene on 12p13 to the MN1 gene
            on 22q11
  JOURNAL   Oncogene 10 (8), 1511-1519 (1995)
   PUBMED   7731705
  REMARK    Erratum:[Oncogene 1995 Aug 17;11(4):809]
REFERENCE   9  (bases 1 to 6144)
  AUTHORS   Porter,C.C., Di Paola,J. and Pencheva,B.
  TITLE     ETV6 Thrombocytopenia and Predisposition to Leukemia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   33226740
REFERENCE   10 (bases 1 to 6144)
  AUTHORS   Fainstein,E., Einat,M., Gokkel,E., Marcelle,C., Croce,C.M.,
            Gale,R.P. and Canaani,E.
  TITLE     Nucleotide sequence analysis of human abl and bcr-abl cDNAs
  JOURNAL   Oncogene 4 (12), 1477-1481 (1989)
   PUBMED   2687768
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007450.1, BC043399.1,
            T79261.1 and AC084358.19.
            
            On Aug 31, 2019 this sequence version replaced NM_001987.4.
            
            Summary: This gene encodes an ETS family transcription factor. The
            product of this gene contains two functional domains: a N-terminal
            pointed (PNT) domain that is involved in protein-protein
            interactions with itself and other proteins, and a C-terminal
            DNA-binding domain. Gene knockout studies in mice suggest that it
            is required for hematopoiesis and maintenance of the developing
            vascular network. This gene is known to be involved in a large
            number of chromosomal rearrangements associated with leukemia and
            congenital fibrosarcoma. [provided by RefSeq, Sep 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853567.6560.1, BC043399.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000396373.9/ ENSP00000379658.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-180               AC007450.1         45522-45701         c
            181-2027            BC043399.1         1-1847
            2028-2032           T79261.1           250-254
            2033-2377           BC043399.1         1853-2197
            2378-6144           AC084358.19        128217-131983
FEATURES             Location/Qualifiers
     source          1..6144
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.2"
     gene            1..6144
                     /gene="ETV6"
                     /gene_synonym="TEL; TEL/ABL; THC5"
                     /note="ETS variant transcription factor 6"
                     /db_xref="GeneID:2120"
                     /db_xref="HGNC:HGNC:3495"
                     /db_xref="MIM:600618"
     exon            1..487
                     /gene="ETV6"
                     /gene_synonym="TEL; TEL/ABL; THC5"
                     /inference="alignment:Splign:2.1.0"
     CDS             455..1813
                     /gene="ETV6"
                     /gene_synonym="TEL; TEL/ABL; THC5"
                     /note="isoform 1 is encoded by transcript variant 1; ets
                     variant gene 6 (TEL oncogene); TEL1 oncogene;
                     transcription factor ETV6; ETS-related protein Tel1;
                     ETV6-RUNX1 fusion protein"
                     /codon_start=1
                     /product="transcription factor ETV6 isoform 1"
                     /protein_id="NP_001978.1"
                     /db_xref="CCDS:CCDS8643.1"
                     /db_xref="GeneID:2120"
                     /db_xref="HGNC:HGNC:3495"
                     /db_xref="MIM:600618"
                     /translation="MSETPAQCSIKQERISYTPPESPVPSYASSTPLHVPVPRALRME
                     EDSIRLPAHLRLQPIYWSRDDVAQWLKWAENEFSLRPIDSNTFEMNGKALLLLTKEDF
                     RYRSPHSGDVLYELLQHILKQRKPRILFSPFFHPGNSIHTQPEVILHQNHEEDNCVQR
                     TPRPSVDNVHHNPPTIELLHRSRSPITTNHRPSPDPEQRPLRSPLDNMIRRLSPAERA
                     QGPRPHQENNHQESYPLSVSPMENNHCPASSESHPKPSSPRQESTRVIQLMPSPIMHP
                     LILNPRHSVDFKQSRLSEDGLHREGKPINLSHREDLAYMNHIMVSVSPPEEHAMPIGR
                     IADCRLLWDYVYQLLSDSRYENFIRWEDKESKIFRIVDPNGLARLWGNHKNRTNMTYE
                     KMSRALRHYYKLNIIRKEPGQRLLFRFMKTPDEIMSGRTDRLEHLESQELDEQIYQED
                     EC"
     exon            488..617
                     /gene="ETV6"
                     /gene_synonym="TEL; TEL/ABL; THC5"
                     /inference="alignment:Splign:2.1.0"
     exon            618..782
                     /gene="ETV6"
                     /gene_synonym="TEL; TEL/ABL; THC5"
                     /inference="alignment:Splign:2.1.0"
     exon            783..917
                     /gene="ETV6"
                     /gene_synonym="TEL; TEL/ABL; THC5"
                     /inference="alignment:Splign:2.1.0"
     exon            918..1463
                     /gene="ETV6"
                     /gene_synonym="TEL; TEL/ABL; THC5"
                     /inference="alignment:Splign:2.1.0"
     exon            1464..1606
                     /gene="ETV6"
                     /gene_synonym="TEL; TEL/ABL; THC5"
                     /inference="alignment:Splign:2.1.0"
     exon            1607..1707
                     /gene="ETV6"
                     /gene_synonym="TEL; TEL/ABL; THC5"
                     /inference="alignment:Splign:2.1.0"
     exon            1708..6144
                     /gene="ETV6"
                     /gene_synonym="TEL; TEL/ABL; THC5"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2393
                     /gene="ETV6"
                     /gene_synonym="TEL; TEL/ABL; THC5"
                     /note="major polyA site"
     regulatory      2397..2402
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ETV6"
                     /gene_synonym="TEL; TEL/ABL; THC5"
                     /note="hexamer: AATGAA"
     regulatory      4491..4496
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ETV6"
                     /gene_synonym="TEL; TEL/ABL; THC5"
                     /note="hexamer: TATAAA"
     regulatory      4513..4518
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ETV6"
                     /gene_synonym="TEL; TEL/ABL; THC5"
                     /note="hexamer: AATGAA"
     polyA_site      4514
                     /gene="ETV6"
                     /gene_synonym="TEL; TEL/ABL; THC5"
     polyA_site      4531
                     /gene="ETV6"
                     /gene_synonym="TEL; TEL/ABL; THC5"
     regulatory      6116..6121
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ETV6"
                     /gene_synonym="TEL; TEL/ABL; THC5"
                     /note="hexamer: AAGAAA"
     polyA_site      6144
                     /gene="ETV6"
                     /gene_synonym="TEL; TEL/ABL; THC5"
ORIGIN      
        1 acgtcagttt ctgcactgaa actctcaaga tcaatgagca aagagctttc tcagttctgc
       61 ctttcagttt ctctcttcca ggaaggaaaa cattcgagag agcgagggag agccgcggga
      121 gggcgggggg cgggggcgcc ggctgcgggt gggaggagag accgggaggc cggccgggct
      181 gcgtcccggg tccccgcgcc gcgccgcgac ctgcagaccc cgccgccgcg ctcgggcccg
      241 tctcccacgc ccccgccgcc ccgcgcgccc aactccgccg gccgccccgc cccgccccgc
      301 gcgctccaga cccccggggc ggctgccggg agagatgctg gaagaaactt cttaaatgac
      361 cgcgtctggc tggccgtgga gcctttctgg gttggggaga ggaaaggaaa gtggaaaaaa
      421 cctgagaact tcctgatctc tctcgctgtg agacatgtct gagactcctg ctcagtgtag
      481 cattaagcag gaacgaattt catatacacc tccagagagc ccagtgccga gttacgcttc
      541 ctcgacgcca cttcatgttc cagtgcctcg agcgctcagg atggaggaag actcgatccg
      601 cctgcctgcg cacctgcgct tgcagccaat ttactggagc agggatgacg tagcccagtg
      661 gctcaagtgg gctgaaaatg agttttcttt aaggccaatt gacagcaaca cgtttgaaat
      721 gaatggcaaa gctctcctgc tgctgaccaa agaggacttt cgctatcgat ctcctcattc
      781 aggtgatgtg ctctatgaac tccttcagca tattctgaag cagaggaaac ctcggattct
      841 tttttcacca ttcttccacc ctggaaactc tatacacaca cagccggagg tcatactgca
      901 tcagaaccat gaagaagata actgtgtcca gaggaccccc aggccatccg tggataatgt
      961 gcaccataac cctcccacca ttgaactgtt gcaccgctcc aggtcaccta tcacgacaaa
     1021 tcaccggcct tctcctgacc ccgagcagcg gcccctccgg tcccccctgg acaacatgat
     1081 ccgccgcctc tccccggctg agagagctca gggacccagg ccgcaccagg agaacaacca
     1141 ccaggagtcc taccctctgt cagtgtctcc catggagaat aatcactgcc cagcgtcctc
     1201 cgagtcccac ccgaagccat ccagcccccg gcaggagagc acacgcgtga tccagctgat
     1261 gcccagcccc atcatgcacc ctctgatcct gaacccccgg cactccgtgg atttcaaaca
     1321 gtccaggctc tccgaggacg ggctgcatag ggaagggaag cccatcaacc tctctcatcg
     1381 ggaagacctg gcttacatga accacatcat ggtctctgtc tccccgcctg aagagcacgc
     1441 catgcccatt gggagaatag cagactgtag actgctttgg gattacgtct atcagttgct
     1501 ttctgacagc cggtacgaaa acttcatccg atgggaggac aaagaatcca aaatattccg
     1561 gatagtggat cccaacggac tggctcgact gtggggaaac cataagaaca gaacaaacat
     1621 gacctatgag aaaatgtcca gagccctgcg ccactactac aaactaaaca ttatcaggaa
     1681 ggagccagga caaaggcttt tgttcaggtt tatgaaaacc ccagatgaaa tcatgagtgg
     1741 ccgaacagac cgtctggagc acctagagtc ccaggagctg gatgaacaaa tataccaaga
     1801 agatgaatgc tgaaggaacc aacagtccac ctcagcgggc cagcagccca gggaacccct
     1861 gcccaccagg attgctggaa gtgtgacgga gcaggcgggc tgaggagagt ggaaaaggaa
     1921 gcgacccaga aatggcaggg acacttctct tgcagaccaa gagggaccct ggagcacctt
     1981 agacaaacta cccagcacag gcggggctgg aattctggcg gagggcatga gcctgggact
     2041 ccatgtcacg tttccttctg atttggaatc tctccatctg taattcctca ccctcaccct
     2101 tccaccgttg ttagtatcat ggtgtttttg tttttgtttt tgttttaaga acctgcagtt
     2161 tgactcttca tcgttcatct aggggaagac atctgatgtt gttttcctat ggaaatatat
     2221 atctattata tatatatttt ttgcaaatct cacaaagtgc ggcaagccca gctggtcagg
     2281 aaagagaata cttgcagagg ggttcaggtt cctctttttc ctgccacgtg gatcaggtct
     2341 gttcctgtta ctgttgggtc ttggctgaaa aaaaaaaatg cttttaaaaa agataaaatg
     2401 aaaaggagag ctctcttttt ctctctcttg ctctgttctt cccttggtcc cctctgtcct
     2461 cccgccctgc ctgcagttga gattcagatg ccttctgaca gagttcagcc tcttggagag
     2521 tcttggggat tgttggcacc taaacagaat cagtgacccg ggtgctttgt ggccagcagc
     2581 acagaatcaa acccgcatcc cagcattggg ccacccatct gagggaggcc aaaatcatca
     2641 cagatgctgc tgtgctgcag acagatacat gctagtccag agagccgccc ctgagatggc
     2701 tgtgagaacc atgtgtctaa ggcgtaagat aaggatggaa ggctgtccaa gttatttgga
     2761 aggcctcggc agcttgggat tagcttggga gcgcagcgct gcaaagtgga aaatatgaaa
     2821 agaccacaca ggcccagcag tccagaaact gggcaaaaat attctgcagt ggggatttat
     2881 ttttccaaag caggtaacag aggctagtga gaaagaaaag ctcctctctg ctccattcca
     2941 aaggccatct tgtggtcagt ttcatgccct cacctgattt tttttttttt tttttttttt
     3001 caattcctaa ccttttttaa agtttcctgg tctccactgg acacagagct ttggagacgg
     3061 aggatcccag agggcagtct cagttgcaat cagtgtgtgc ccagcctggg cagacaggaa
     3121 attcctcgga tacattattt tttctttctt tcatagctgt gtctcagaaa ggacccattt
     3181 gtggctcttt ttcacctcaa aataagatcg atggtatctt gtaaaatgag ggtagtgcca
     3241 cttcttagta tttttgaaag ctgttttaga tttttttttt ttttcctttt ctagccatct
     3301 aaattgactc ttccaatata ggtctcagaa atccaatatt tggagtacaa tttcttttaa
     3361 tccagattac acctgcctta caaagcaccc cctccttgtt cccctctgtt tcctctactc
     3421 agttggggga gaaactcaca gctcctccgg gatacatatg tgccctcagc agcagctccc
     3481 aggtgaagtt accagacccc tgggcttctc cccagctttt tctgagttga gtcagacatg
     3541 tagagtttgg gtcacacagg caagaggaat tttccctcgg ccttactgac aaggacacca
     3601 acctagggtg caaacagatg gactatggtt caaggacact ggaattgagg agctgatcaa
     3661 ggctctcttc agccttgctc tgtccctgcc tcttatcaga gcacaggtag acacacgggc
     3721 atagccagcc cactcctact gtcacaggcg ccccaccatt caaccttccg ggaggtcagg
     3781 gaccttctat atgaggcgag tgggtctcag tctgcttgaa tggtgatgag attctgctgg
     3841 atctcagcac gctgcaggtg tcttttgaga gcattcagta ggacatggtg atccctattt
     3901 cagcctctaa gatgactggt attctatctg aaatgcagag attaagccaa atacctgatg
     3961 tattgtgaaa gccactgatt ttaagaatgg agagaaaggg attttttact gcatccctct
     4021 gtatgaatat gaaatcagag accagggcat gatgttgcta ggattagagc ctctcagtct
     4081 ggcctcttca cccaagtgca agaactcagt ctcttactgt tcaaagaatc ttaacagttg
     4141 aattatggag ggaaattccc ttttgcccca agcatttcta tatttaaagc aatatcccag
     4201 gagaatatgt tagacttagg atgatacctt cagccacttg aagaagaaat agaaggcgct
     4261 cattccaata tagtctttat ttcccattca gatacaggtt gagcatccct aatctgaaca
     4321 gttaaaaccc ccaaatgccc caaaatccaa accttcctga acgctatgac accatgagtg
     4381 gaaaattcca cacctaacaa acacatttgc tttcttatgg ttcaatgtac acaaactgtt
     4441 ttatatagaa aatgatttca aatatcataa aattaccttc aggctatgtg tataaagtat
     4501 atatgagcca taaatgaatt ttgtgtttag actttgtgtc catccccaag atctctcatt
     4561 ttatatatat atatatatat atatatatat atatatatat atatatatac acacacacac
     4621 acatacacaa atattccagg atacaaaaaa aaacatttaa aaatccgaga cccagaacac
     4681 ttctggtccc aagcatttca gataagggat atcaatctgt actaccaata aggatttcgt
     4741 aattccccta actgcaaatg tcctcttcat ttgttcttta tgagaaaacc cgggtagtgc
     4801 cagcacctgg atacagtatt tacaccctgc agaccctaaa gatttcagat tcagttagca
     4861 aaccttgatg aagcacctgc tggacactga gggacccaaa gctcaatcag ccataatccc
     4921 tgctttcaga gtttatattg tacctgccta atccacccgg cgtgactcat ttcaacacta
     4981 agtactaggg gtgttgtcag gagacaaatc tgaagtcagg agaggaaaat gcaaaggagc
     5041 cctgccgtgt gatggatgtg cattctcact tgggtcttga agttctcatt cctacatctc
     5101 aagctagcca ggcagtctcc tctctatcag aagaaagcac tggtaattgg ctagactggc
     5161 tatgttgaag gtaacatgaa ctctaagatc ttgacccagg gcgacttggt tttgcttaag
     5221 gtggcatcac caatgttcca aatcctttag ggagatgagg gtatccccac agaaaaagag
     5281 gaataataga ccaatggatt ttctcctttc accagtatgt ttggaaccct ctgatccaat
     5341 gtcttttgat actgatctct tgtccaaatg agaatgtcgc tttagctgaa attcaaatgg
     5401 ctgtgacaat ttaccgaaat gatgaagtaa ccaccattcc cacctttcac tgcctaggct
     5461 ccaagtctga atacattttt gaaataggaa ctcccttttg caaaaaagaa acctgggtgt
     5521 cagggaggtg aagtgacttg ccctaggagc agacagcatg ccaagaatgg aattaggctc
     5581 aggatccagc ctgggctcac cctgtgtggc tcattcccac ccaggaaact gaagataaaa
     5641 gatttgggaa aacacaccaa gaaaaagggg cagttttctt tgcccaagca tttggtgcta
     5701 gttagaggct gttcactctc tcctgctcct cttcggagta gaaataaagg ctgtgacaca
     5761 aggaagccag tggggtggga gggaggcacc ataatccctc cctaaaaccc acagaagact
     5821 aacctgatac tcttttgacc caactgcatc aacactaaac agctgcagac cccctgaatc
     5881 tttcacacat gccaagtgaa cattcttgat gatttctctt tgtgaccgca accacctgca
     5941 aaccagaacg actctagaat ttccttcccc gccccccttt ttgtttagtt tctaatctct
     6001 tgtttatgag gtgtggggtt tataagggac tgaatcaaat gaatgtaaca aaaaagaaaa
     6061 aaaaaacaaa aaaaaatgcc ttttctcagg gccagtgagt tgcaaataat ttttaaagaa
     6121 aagcctataa ttacatcatc tcaa
//
