CD27 molecule (CD27) - coding DNA reference sequence

(used for mutation description)

(last modified May 1, 2014)

This file was created to facilitate the description of sequence variants in the CD27 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000012.11, covering CD27 transcript NM_001242.4.

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

 (upstream sequence)
                               .         .         .                g.1031
                              cggaaggggaagggggtggaggttgctgcta       c.-181

 .         .         .         .         .         .                g.1091
 tgagagagaaaaaaaaaacagccacaatagagattctgccttcaaaggttggcttgccac       c.-121

 .         .         .         .         .         .                g.1151
 ctgaagcagccactgcccagggggtgcaaagaagagacagcagcgcccagcttggaggtg       c.-61

 .         .         .         .         .         .                g.1211
 ctaactccagaggccagcatcagcaactgggcacagaaaggagccgcctgggcagggacc       c.-1

          .         .         .         .         .         .       g.1271
 ATGGCACGGCCACATCCCTGGTGGCTGTGCGTTCTGGGGACCCTGGTGGGGCTCTCAGCT       c.60
 M  A  R  P  H  P  W  W  L  C  V  L  G  T  L  V  G  L  S  A         p.20

          .         .         .         .         .         .       g.1331
 ACTCCAGCCCCCAAGAGCTGCCCAGAGAGGCACTACTGGGCTCAGGGAAAGCTGTGCTGC       c.120
 T  P  A  P  K  S  C  P  E  R  H  Y  W  A  Q  G  K  L  C  C         p.40

          .       | 02 .         .         .         .         .    g.1583
 CAGATGTGTGAGCCAG | GAACATTCCTCGTGAAGGACTGTGACCAGCATAGAAAGGCTGCT    c.180
 Q  M  C  E  P  G |   T  F  L  V  K  D  C  D  Q  H  R  K  A  A      p.60

          .         .         .         .         .         .       g.1643
 CAGTGTGATCCTTGCATACCGGGGGTCTCCTTCTCTCCTGACCACCACACCCGGCCCCAC       c.240
 Q  C  D  P  C  I  P  G  V  S  F  S  P  D  H  H  T  R  P  H         p.80

          .         .         | 03         .         .         .    g.6320
 TGTGAGAGCTGTCGGCACTGTAACTCTG | GTCTTCTCGTTCGCAACTGCACCATCACTGCC    c.300
 C  E  S  C  R  H  C  N  S  G |   L  L  V  R  N  C  T  I  T  A      p.100

          .         .         .         .         .         .       g.6380
 AATGCTGAGTGTGCCTGTCGCAATGGCTGGCAGTGCAGGGACAAGGAGTGCACCGAGTGT       c.360
 N  A  E  C  A  C  R  N  G  W  Q  C  R  D  K  E  C  T  E  C         p.120

          .         .         .         .         .         .       g.6440
 GATCCTCTTCCAAACCCTTCGCTGACCGCTCGGTCGTCTCAGGCCCTGAGCCCACACCCT       c.420
 D  P  L  P  N  P  S  L  T  A  R  S  S  Q  A  L  S  P  H  P         p.140

          .         .         | 04         .         .         .    g.6688
 CAGCCCACCCACTTACCTTATGTCAGTG | AGATGCTGGAGGCCAGGACAGCTGGGCACATG    c.480
 Q  P  T  H  L  P  Y  V  S  E |   M  L  E  A  R  T  A  G  H  M      p.160

          .         .         .         .         .         | 05    g.7012
 CAGACTCTGGCTGACTTCAGGCAGCTGCCTGCCCGGACTCTCTCTACCCACTGGCCAC | CC    c.540
 Q  T  L  A  D  F  R  Q  L  P  A  R  T  L  S  T  H  W  P  P |       p.180

          .         .         .         .         .         .       g.7072
 CAAAGATCCCTGTGCAGCTCCGATTTTATTCGCATCCTTGTGATCTTCTCTGGAATGTTC       c.600
 Q  R  S  L  C  S  S  D  F  I  R  I  L  V  I  F  S  G  M  F         p.200

          .         .         .         .         .         | 06    g.7385
 CTTGTTTTCACCCTGGCCGGGGCCCTGTTCCTCCATCAACGAAGGAAATATAGATCAA | AC    c.660
 L  V  F  T  L  A  G  A  L  F  L  H  Q  R  R  K  Y  R  S  N |       p.220

          .         .         .         .         .         .       g.7445
 AAAGGAGAAAGTCCTGTGGAGCCTGCAGAGCCTTGTCATTACAGCTGCCCCAGGGAGGAG       c.720
 K  G  E  S  P  V  E  P  A  E  P  C  H  Y  S  C  P  R  E  E         p.240

          .         .         .         .         .         .       g.7505
 GAGGGCAGCACCATCCCCATCCAGGAGGATTACCGAAAACCGGAGCCTGCCTGCTCCCCC       c.780
 E  G  S  T  I  P  I  Q  E  D  Y  R  K  P  E  P  A  C  S  P         p.260

                                                                    g.7508
 TGA                                                                c.783
 X                                                                  p.260

          .         .         .         .         .         .       g.7568
 gccagcacctgcgggagctgcactacagccctggcctccacccccaccccgccgaccatc       c.*60

          .         .         .         .         .         .       g.7628
 caagggagagtgagacctggcagccacaactgcagtcccatcctcttgtcagggcccttt       c.*120

          .         .         .         .         .         .       g.7688
 cctgtgtacacgtgacagagtgccttttcgagactggcagggacgaggacaaatatggat       c.*180

          .         .         .         .         .         .       g.7748
 gaggtggagagtgggaagcaggagcccagccagctgcgcctgcgctgcaggagggcgggg       c.*240

          .         .         .         .         .         .       g.7808
 gctctggttgtaaaacacacttcctgctgcgaaagacccacatgctacaagacgggcaaa       c.*300

          .         .                                               g.7834
 ataaagtgacagatgaccaccctgca                                         c.*326

 (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 CD27 molecule 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.