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2024-04-25 01:23:05, GGRNA : RefSeq release 60 (20130726)

LOCUS       NR_038191               1574 bp    RNA     linear   PRI 16-JUL-2013
DEFINITION  Homo sapiens double homeobox 4-like (DUX4L), non-coding RNA.
ACCESSION   NR_038191
VERSION     NR_038191.1  GI:332801004
KEYWORDS    RefSeq.
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 1574)
  AUTHORS   Snider,L., Geng,L.N., Lemmers,R.J., Kyba,M., Ware,C.B.,
            Nelson,A.M., Tawil,R., Filippova,G.N., van der Maarel,S.M.,
            Tapscott,S.J. and Miller,D.G.
  TITLE     Facioscapulohumeral dystrophy: incomplete suppression of a
            retrotransposed gene
  JOURNAL   PLoS Genet. 6 (10), E1001181 (2010)
   PUBMED   21060811
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1574)
  AUTHORS   Lemmers,R.J., van der Vliet,P.J., Klooster,R., Sacconi,S.,
            Camano,P., Dauwerse,J.G., Snider,L., Straasheijm,K.R., van
            Ommen,G.J., Padberg,G.W., Miller,D.G., Tapscott,S.J., Tawil,R.,
            Frants,R.R. and van der Maarel,S.M.
  TITLE     A unifying genetic model for facioscapulohumeral muscular dystrophy
  JOURNAL   Science 329 (5999), 1650-1653 (2010)
   PUBMED   20724583
REFERENCE   3  (bases 1 to 1574)
  AUTHORS   Snider,L., Asawachaicharn,A., Tyler,A.E., Geng,L.N., Petek,L.M.,
            Maves,L., Miller,D.G., Lemmers,R.J., Winokur,S.T., Tawil,R., van
            der Maarel,S.M., Filippova,G.N. and Tapscott,S.J.
  TITLE     RNA transcripts, miRNA-sized fragments and proteins produced from
            D4Z4 units: new candidates for the pathophysiology of
            facioscapulohumeral dystrophy
  JOURNAL   Hum. Mol. Genet. 18 (13), 2414-2430 (2009)
   PUBMED   19359275
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HQ266760.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: HQ266760.1 [ECO:0000332]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1574              HQ266760.1         1-1574
FEATURES             Location/Qualifiers
     source          1..1574
                     /organism="Homo sapiens"
                     /mol_type="transcribed RNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10"
     gene            1..1574
                     /gene="DUX4L"
                     /note="double homeobox 4-like"
                     /db_xref="GeneID:100288687"
     misc_RNA        1..1574
                     /gene="DUX4L"
                     /product="double homeobox 4-like"
                     /db_xref="GeneID:100288687"
     exon            1..1283
                     /gene="DUX4L"
                     /inference="alignment:Splign:1.39.8"
     variation       281
                     /gene="DUX4L"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:71231405"
     variation       309
                     /gene="DUX4L"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:36185398"
     variation       complement(340)
                     /gene="DUX4L"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:36175540"
     variation       complement(509)
                     /gene="DUX4L"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:36157577"
     variation       549..550
                     /gene="DUX4L"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:36181084"
     variation       complement(561)
                     /gene="DUX4L"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:36182337"
     variation       complement(617)
                     /gene="DUX4L"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:36168616"
     variation       complement(728)
                     /gene="DUX4L"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:36194251"
     variation       865
                     /gene="DUX4L"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:74184614"
     variation       1007
                     /gene="DUX4L"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:71308264"
     exon            1284..1375
                     /gene="DUX4L"
                     /inference="alignment:Splign:1.39.8"
     exon            1376..1574
                     /gene="DUX4L"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(1442)
                     /gene="DUX4L"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:79637499"
     variation       complement(1465)
                     /gene="DUX4L"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:76380100"
     variation       complement(1506)
                     /gene="DUX4L"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:74186475"
     variation       complement(1509)
                     /gene="DUX4L"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:74863614"
ORIGIN      


atggccctcccgacaccctcggacagcaccctccccgcggaagcccggggacgaggacggcgacggagactcgtttggaccccgagccaaagcgaggccctgcgagcctgctttgagcggaacccgtacccgggcatcgccaccagagaacggctggcccaggccatcggcattccggagcccagggtccagatttggtttcagaatgagaggtcacgccagctgaggcagcaccggcgggaatctcggccctggcccgggagacgcggcccgccagaaggccggcgaaagcggaccgccgtcaccggatcccagaccgccctgctcctccgagcctttgagaaggatcgctttccaggcatcgccgcccgggaggagctggccagagagacgggcctcccggagtccaggattcagatctggtttcagaatcgaagggccaggcacccgggacagggtggcagggcgcccgcgcaggcaggcggcctgtgcagcgcggcccccggcgggggtcaccctgctccctcgtgggtcgccttcgcccacaccggcgcgtggggaacggggcttcccgcaccccacgtgccctgcgcgcctggggctctcccacagggggctttcgtgagccaggcagcgagggccgcccccgcgctgcagcccagccaggccgcgccggcagaggggatctcccaacctgccccggcgcgcggggatttcgcctacgccgccccggctcctccggacggggcgctctcccaccctcaggctcctcgctggcctccgcacccgggcaaaagccgggaggaccgggacccgcagcgcgacggcctgccgggcccctgcgcggtggcacagcctgggcccgctcaagcggggccgcagggccaaggggtgcttgcgccacccacgtcccaggggagtccgtggtggggctggggccggggtccccaggtcgccggggcggcgtgggaaccccaagccggggcagctccacctccccagcccgcgcccccggacgcctccgcctccgcgcggcaggggcagatgcaaggcatcccggcgccctcccaggcgctccaggagccggcgccctggtctgcactcccctgcggcctgctgctggatgagctcctggcgagcccggagtttctgcagcaggcgcaacctctcctagaaacggaggccccgggggagctggaggcctcggaagaggccgcctcgctggaagcacccctcagcgaggaagaataccgggctctgctggaggagctttaggacgcggggtctaggcccggtgagagactccacaccgcggagaactgccattctttcctgggcatcccggggatcccagagccggcccaggtaccagcagacctgcgcgcagtgcgcaccccggctgacgtgcaagggagctcgctggcctctctgtgcccttgttcttccgtgaaattctggctgaatgtctccccccaccttccgacgctgtctaggcaaacctggattagagttacatctcctggatgattagttcagagatatattaaaatgccccctccctgtggatcctatag
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