double homeobox 4 (DUX4) - coding DNA reference sequence

(used for variant description)

(last modified November 12, 2012)

This file was created to facilitate the description of sequence variants on transcript NM_033178.2 in the DUX4 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000004.11, covering DUX4 transcript NM_033178.2.

Please note that introns are available by clicking on the exon numbers above the sequence.

 (upstream sequence)
           .         .         .         .         .                g.5057
    ccaccccccccccccaccaccaccaccaccaccaccccgccggccggccccaggcct       c.-61

 .         .         .         .         .         .                g.5117
 cgacgccctgggtcccttccggggtggggcgggctgtcccaggggggctcaccgccattc       c.-1

          .         .         .         .         .         .       g.5177
 ATGAAGGGGTGGAGCCTGCCTGCCTGTGGGCCTTTACAAGGGCGGCTGGCTGGCTGGCTG       c.60
 M  K  G  W  S  L  P  A  C  G  P  L  Q  G  R  L  A  G  W  L         p.20

          .         .         .         .         .         .       g.5237
 GCTGTCCGGGCAGGCCTCCTGGCTGCACCTGCCGCAGTGCACAGTCCGGCTGAGGTGCAC       c.120
 A  V  R  A  G  L  L  A  A  P  A  A  V  H  S  P  A  E  V  H         p.40

          .         .         .         .         .         .       g.5297
 GGGAGCCCGCCGGCCTCTCTCTGCCCGCGTCCGTCCGTGAAATTCCGGCCGGGGCTCACC       c.180
 G  S  P  P  A  S  L  C  P  R  P  S  V  K  F  R  P  G  L  T         p.60

          .         .         .         .         .         .       g.5357
 GCGATGGCCCTCCCGACACCCTCGGACAGCACCCTCCCCGCGGAAGCCCGGGGACGAGGA       c.240
 A  M  A  L  P  T  P  S  D  S  T  L  P  A  E  A  R  G  R  G         p.80

          .         .         .         .         .         .       g.5417
 CGGCGACGGAGACTCGTTTGGACCCCGAGCCAAAGCGAGGCCCTGCGAGCCTGCTTTGAG       c.300
 R  R  R  R  L  V  W  T  P  S  Q  S  E  A  L  R  A  C  F  E         p.100

          .         .         .         .         .         .       g.5477
 CGGAACCCGTACCCGGGCATCGCCACCAGAGAACGGCTGGCCCAGGCCATCGGCATTCCG       c.360
 R  N  P  Y  P  G  I  A  T  R  E  R  L  A  Q  A  I  G  I  P         p.120

          .         .         .         .         .         .       g.5537
 GAGCCCAGGGTCCAGATTTGGTTTCAGAATGAGAGGTCACGCCAGCTGAGGCAGCACCGG       c.420
 E  P  R  V  Q  I  W  F  Q  N  E  R  S  R  Q  L  R  Q  H  R         p.140

          .         .         .         .         .         .       g.5597
 CGGGAATCTCGGCCCTGGCCCGGGAGACGCGGCCCGCCAGAAGGCCGGCGAAAGCGGACC       c.480
 R  E  S  R  P  W  P  G  R  R  G  P  P  E  G  R  R  K  R  T         p.160

          .         .         .         .         .         .       g.5657
 GCCGTCACCGGATCCCAGACCGCCCTGCTCCTCCGAGCCTTTGAGAAGGATCGCTTTCCA       c.540
 A  V  T  G  S  Q  T  A  L  L  L  R  A  F  E  K  D  R  F  P         p.180

          .         .         .         .         .         .       g.5717
 GGCATCGCCGCCCGGGAGGAGCTGGCCAGAGAGACGGGCCTCCCGGAGTCCAGGATTCAG       c.600
 G  I  A  A  R  E  E  L  A  R  E  T  G  L  P  E  S  R  I  Q         p.200

          .         .         .         .         .         .       g.5777
 ATCTGGTTTCAGAATCGAAGGGCCAGGCACCCGGGACAGGGTGGCAGGGCGCCCGCGCAG       c.660
 I  W  F  Q  N  R  R  A  R  H  P  G  Q  G  G  R  A  P  A  Q         p.220

          .         .         .         .         .         .       g.5837
 GCAGGCGGCCTGTGCAGCGCGGCCCCCGGCGGGGGTCACCCTGCTCCCTCGTGGGTCGCC       c.720
 A  G  G  L  C  S  A  A  P  G  G  G  H  P  A  P  S  W  V  A         p.240

          .         .         .         .         .         .       g.5897
 TTCGCCCACACCGGCGCGTGGGGAACGGGGCTTCCCGCACCCCACGTGCCCTGCGCGCCT       c.780
 F  A  H  T  G  A  W  G  T  G  L  P  A  P  H  V  P  C  A  P         p.260

          .         .         .         .         .         .       g.5957
 GGGGCTCTCCCACAGGGGGCTTTCGTGAGCCAGGCAGCGAGGGCCGCCCCCGCGCTGCAG       c.840
 G  A  L  P  Q  G  A  F  V  S  Q  A  A  R  A  A  P  A  L  Q         p.280

          .         .         .         .         .         .       g.6017
 CCCAGCCAGGCCGCGCCGGCAGAGGGGGTCTCCCAACCTGCCCCGGCGCGCGGGGATTTC       c.900
 P  S  Q  A  A  P  A  E  G  V  S  Q  P  A  P  A  R  G  D  F         p.300

          .         .         .         .         .         .       g.6077
 GCCTACGCCGCCCCGGCTCCTCCGGACGGGGCGCTCTCCCACCCTCAGGCTCCTCGGTGG       c.960
 A  Y  A  A  P  A  P  P  D  G  A  L  S  H  P  Q  A  P  R  W         p.320

          .         .         .         .         .         .       g.6137
 CCTCCGCACCCGGGCAAAAGCCGGGAGGACCGGGACCCGCAGCGCGACGGCCTGCCGGGC       c.1020
 P  P  H  P  G  K  S  R  E  D  R  D  P  Q  R  D  G  L  P  G         p.340

          .         .         .         .         .         .       g.6197
 CCCTGCGCGGTGGCACAGCCTGGGCCCGCTCAAGCGGGGCCGCAGGGCCAAGGGGTGCTT       c.1080
 P  C  A  V  A  Q  P  G  P  A  Q  A  G  P  Q  G  Q  G  V  L         p.360

          .         .         .         .         .         .       g.6257
 GCGCCACCCACGTCCCAGGGGAGTCCGTGGTGGGGCTGGGGCCGGGGTCCCCAGGTCGCC       c.1140
 A  P  P  T  S  Q  G  S  P  W  W  G  W  G  R  G  P  Q  V  A         p.380

          .         .         .         .         .         .       g.6317
 GGGGCGGCGTGGGAACCCCAAGCCGGGGCAGCTCCACCTCCCCAGCCCGCGCCCCCGGAC       c.1200
 G  A  A  W  E  P  Q  A  G  A  A  P  P  P  Q  P  A  P  P  D         p.400

          .         .         .         .         .         .       g.6377
 GCCTCCGCCTCCGCGCGGCAGGGGCAGATGCAAGGCATCCCGGCGCCCTCCCAGGCGCTC       c.1260
 A  S  A  S  A  R  Q  G  Q  M  Q  G  I  P  A  P  S  Q  A  L         p.420

          .         .         .         .         .         .       g.6437
 CAGGAGCCGGCGCCCTGGTCTGCACTCCCCTGCGGCCTGCTGCTGGATGAGCTCCTGGCG       c.1320
 Q  E  P  A  P  W  S  A  L  P  C  G  L  L  L  D  E  L  L  A         p.440

          .         .         .         .         .         .       g.6497
 AGCCCGGAGTTTCTGCAGCAGGCGCAACCTCTCCTAGAAACGGAGGCCCCGGGGGAGCTG       c.1380
 S  P  E  F  L  Q  Q  A  Q  P  L  L  E  T  E  A  P  G  E  L         p.460

          .         .         .         .         .         .       g.6557
 GAGGCCTCGGAAGAGGCCGCCTCGCTGGAAGCACCCCTCAGCGAGGAAGAATACCGGGCT       c.1440
 E  A  S  E  E  A  A  S  L  E  A  P  L  S  E  E  E  Y  R  A         p.480

          .                                                         g.6575
 CTGCTGGAGGAGCTTTAG                                                 c.1458
 L  L  E  E  L  X                                                   p.485

          .         .         .         .                           g.6617
 gacgcggggttgggacggggtcgggtggttcggggcagggcg                         c.*42

 (downstream sequence)

Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10^th nucleotide is indicated by a "." above the sequence. The Double homeobox 4 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10^th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.