POU class 3 homeobox 4 (POU3F4) - coding DNA reference sequence

(used for variant description)

(last modified March 23, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_000307.4 in the POU3F4 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_009936.2, covering POU3F4 transcript NM_000307.4.

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

 (upstream sequence)
                                                                    g.5004
                                                         agat       c.-61

 .         .         .         .         .         .                g.5064
 gtcaaaggctgaagctgctccctttgccacattataactagtaggggatcctcaccgacc       c.-1

          .         .         .         .         .         .       g.5124
 ATGGCCACAGCTGCCTCGAATCCCTACAGCATTCTCAGTTCCACCTCCCTAGTCCATGCG       c.60
 M  A  T  A  A  S  N  P  Y  S  I  L  S  S  T  S  L  V  H  A         p.20

          .         .         .         .         .         .       g.5184
 GACTCTGCGGGCATGCAGCAGGGGAGTCCTTTCCGCAACCCTCAGAAACTTCTCCAAAGT       c.120
 D  S  A  G  M  Q  Q  G  S  P  F  R  N  P  Q  K  L  L  Q  S         p.40

          .         .         .         .         .         .       g.5244
 GATTACTTGCAGGGAGTTCCCAGCAATGGGCATCCCCTCGGGCATCACTGGGTGACCAGT       c.180
 D  Y  L  Q  G  V  P  S  N  G  H  P  L  G  H  H  W  V  T  S         p.60

          .         .         .         .         .         .       g.5304
 CTGAGCGACGGGGGCCCATGGTCCTCCACACTGGCCACCAGCCCCCTGGACCAGCAGGAC       c.240
 L  S  D  G  G  P  W  S  S  T  L  A  T  S  P  L  D  Q  Q  D         p.80

          .         .         .         .         .         .       g.5364
 GTGAAGCCCGGGCGCGAAGACCTGCAACTGGGTGCGATCATCCATCACCGCTCGCCACAC       c.300
 V  K  P  G  R  E  D  L  Q  L  G  A  I  I  H  H  R  S  P  H         p.100

          .         .         .         .         .         .       g.5424
 GTAGCCCACCACTCACCGCACACTAACCACCCCAACGCCTGGGGGGCCAGCCCGGCACCG       c.360
 V  A  H  H  S  P  H  T  N  H  P  N  A  W  G  A  S  P  A  P         p.120

          .         .         .         .         .         .       g.5484
 AACCCGTCTATCACGTCAAGCGGCCAACCCCTCAACGTGTACTCGCAGCCTGGCTTCACC       c.420
 N  P  S  I  T  S  S  G  Q  P  L  N  V  Y  S  Q  P  G  F  T         p.140

          .         .         .         .         .         .       g.5544
 GTGAGCGGCATGCTGGAACACGGGGGACTCACCCCACCTCCAGCTGCCGCCTCTGCACAG       c.480
 V  S  G  M  L  E  H  G  G  L  T  P  P  P  A  A  A  S  A  Q         p.160

          .         .         .         .         .         .       g.5604
 AGCCTGCACCCGGTGCTCCGAGAGCCCCCGGATCACGGCGAACTGGGCTCGCACCATTGC       c.540
 S  L  H  P  V  L  R  E  P  P  D  H  G  E  L  G  S  H  H  C         p.180

          .         .         .         .         .         .       g.5664
 CAGGATCACTCCGACGAGGAGACGCCAACCTCTGATGAGTTGGAACAGTTCGCCAAACAA       c.600
 Q  D  H  S  D  E  E  T  P  T  S  D  E  L  E  Q  F  A  K  Q         p.200

          .         .         .         .         .         .       g.5724
 TTCAAACAAAGAAGAATCAAGTTGGGCTTCACGCAGGCCGACGTGGGGTTGGCGCTGGGC       c.660
 F  K  Q  R  R  I  K  L  G  F  T  Q  A  D  V  G  L  A  L  G         p.220

          .         .         .         .         .         .       g.5784
 ACACTGTATGGTAACGTGTTCTCGCAGACCACCATCTGCAGGTTCGAGGCCTTGCAGCTG       c.720
 T  L  Y  G  N  V  F  S  Q  T  T  I  C  R  F  E  A  L  Q  L         p.240

          .         .         .         .         .         .       g.5844
 AGCTTCAAAAATATGTGCAAGCTGAAGCCCCTGCTGAACAAGTGGCTGGAGGAGGCGGAT       c.780
 S  F  K  N  M  C  K  L  K  P  L  L  N  K  W  L  E  E  A  D         p.260

          .         .         .         .         .         .       g.5904
 TCGTCCACAGGGAGCCCGACCAGCATTGACAAGATCGCTGCACAGGGCCGCAAGCGCAAG       c.840
 S  S  T  G  S  P  T  S  I  D  K  I  A  A  Q  G  R  K  R  K         p.280

          .         .         .         .         .         .       g.5964
 AAGCGGACCTCCATCGAGGTGAGTGTCAAGGGCGTACTGGAGACGCATTTCCTCAAGTGT       c.900
 K  R  T  S  I  E  V  S  V  K  G  V  L  E  T  H  F  L  K  C         p.300

          .         .         .         .         .         .       g.6024
 CCCAAGCCTGCCGCGCAGGAGATCTCCTCGCTGGCAGACAGCCTCCAGTTGGAGAAGGAA       c.960
 P  K  P  A  A  Q  E  I  S  S  L  A  D  S  L  Q  L  E  K  E         p.320

          .         .         .         .         .         .       g.6084
 GTGGTGCGTGTCTGGTTCTGTAATCGAAGACAAAAAGAGAAAAGAATGACTCCGCCAGGG       c.1020
 V  V  R  V  W  F  C  N  R  R  Q  K  E  K  R  M  T  P  P  G         p.340

          .         .         .         .         .         .       g.6144
 GATCAGCAGCCGCATGAGGTTTATTCGCACACCGTGAAAACAGACACATCTTGCCATGAT       c.1080
 D  Q  Q  P  H  E  V  Y  S  H  T  V  K  T  D  T  S  C  H  D         p.360

                                                                    g.6150
 CTCTGA                                                             c.1086
 L  X                                                               p.361

          .         .         .         .         .         .       g.6210
 ctggaggaagcgaggaggcggccggccgcactgggagcagcgcggatttctctttctctc       c.*60

          .         .         .         .         .         .       g.6270
 tcactctcttcctttcattctagtattctttattatttttctctctctctcgttcgctcg       c.*120

          .         .         .         .         .         .       g.6330
 ctctctcgtactctctctcttttccctcctttcctttttctttcctttcccctttttctt       c.*180

          .         .         .         .         .         .       g.6390
 tcccttctttttccctttcctttcctttcattttctttcctttccccttcccttcccttc       c.*240

          .         .         .         .         .         .       g.6450
 ccttccatctcttcctttcctttcctttcttttcttttgctttcctttcctttttttccc       c.*300

          .         .         .         .         .                 g.6507
 ttttctttccttttcataagaggttctaacttctgttgacaaaggaaacacatactc          c.*357

 (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 POU class 3 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.