three prime repair exonuclease 1 (TREX1) - coding DNA reference sequence

(used for variant description)

(last modified August 4, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_016381.4 in the TREX1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_009820.2, covering TREX1 transcript NM_016381.4.

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

 (upstream sequence)
                                                   .                g.5011
                                                  ccgatgtggaa       c.-961

 .         .         .         .         .         .                g.5071
 gaccccgaggtggagtgtggctgaggccctgagtgtccagccacatggtggcaccagcac       c.-901

 .         .         .         .         .         .                g.5131
 cactcctttccttaccacatcaactgattaaagcagtgaccagcaggaactgcccagaga       c.-841

 .         .         .         .         .         .                g.5191
 actggctggccttgtttcctgagtctgatctgtttggcggagtgggaggggtggagcagg       c.-781

 .         .         .         .         .         .                g.5251
 acccggaccctgagtggctgggatccttcttcctgtccctggctgttgctgagcccgtcc       c.-721

 .         .         .         .         .         .                g.5311
 ccatggtaactgatctgccttgaggaaggagccctgccctgcctgtggaattgtcctgag       c.-661

 .         .         .         .         .         .                g.5371
 tcattgctttgggctggggccatgggaagaaaccattgtgtggcagggaaggaggtggct       c.-601

 .         .         .         .         .         .                g.5431
 cttggcccaggcctaaaccaggaaagcctgggaaactgggacccacaggtgggcatgaaa       c.-541

 .         .         .         .         .         .                g.5491
 gggccgcagcaggggctcccagcagtgtgtaagaccgggagctggtctggcaccactgcc       c.-481

 .         .         .         .         .         .                g.5551
 ctggtccttccagctgcctgtcactggtatgatggccccggtgcattgtgccaccagcag       c.-421

 .         .         .         .         .         .                g.5611
 gccacagctgtggatcttggaaggcctctggggtcccccgggagcaggggagtgggtgtg       c.-361

 .         .         .         .         .         .                g.5671
 ggggggaacggatggtggtgagagggacagaccaggcaggctgacgagcagggcgggcct       c.-301

 .         .         .         .         .         .                g.5731
 ggctcacgtgggcctgtaggcgggcccacgccaagtttcacttcccgccactgctgccag       c.-241

 .         .         .         .         .         .                g.5791
 cgagagccgcgggagagtgtgcagccgagtcactactgcctgcctgcctgcctgctacgg       c.-181

 .         .         .         .         .         .                g.5851
 tgagtgtggcccccacaatgggatggcgcagggcaggagggccatgggttcccccacccc       c.-121

 .         .         .         .         .         .                g.5911
 agactaagggggcactaggggaggggccgagtcatgtgaagagggagaccctctcagaca       c.-61

 .         .         .         .         .         .                g.5971
 gtcgaatgtgctggtcccactaaggaaaccacctcaccctctccaacttcctgcctgaaa       c.-1

          .         .         .         .         .         .       g.6031
 ATGGGCCCTGGAGCTCGCAGACAGGGCAGGATTGTGCAGGGAAGGCCTGAGATGTGCTTC       c.60
 M  G  P  G  A  R  R  Q  G  R  I  V  Q  G  R  P  E  M  C  F         p.20

          .         .         .         .         .         .       g.6091
 TGCCCACCCCCTACCCCACTCCCTCCCCTTCGGATCTTAACACTGGGCACTCACACACCC       c.120
 C  P  P  P  T  P  L  P  P  L  R  I  L  T  L  G  T  H  T  P         p.40

          .         .         .         .         .         .       g.6151
 ACCCCATGCTCCTCTCCAGGCTCAGCAGCAGGTACGTACCCAACCATGGGCTCGCAGGCC       c.180
 T  P  C  S  S  P  G  S  A  A  G  T  Y  P  T  M  G  S  Q  A         p.60

          .         .         .         .         .         .       g.6211
 CTGCCCCCGGGGCCCATGCAGACCCTCATCTTTTTCGACATGGAGGCCACTGGCTTGCCC       c.240
 L  P  P  G  P  M  Q  T  L  I  F  F  D  M  E  A  T  G  L  P         p.80

          .         .         .         .         .         .       g.6271
 TTCTCCCAGCCCAAGGTCACGGAGCTGTGCCTGCTGGCTGTCCACAGATGTGCCCTGGAG       c.300
 F  S  Q  P  K  V  T  E  L  C  L  L  A  V  H  R  C  A  L  E         p.100

          .         .         .         .         .         .       g.6331
 AGCCCCCCCACCTCTCAGGGGCCACCTCCCACAGTTCCTCCACCACCGCGTGTGGTAGAC       c.360
 S  P  P  T  S  Q  G  P  P  P  T  V  P  P  P  P  R  V  V  D         p.120

          .         .         .         .         .         .       g.6391
 AAGCTCTCCCTGTGTGTGGCTCCGGGGAAGGCCTGCAGCCCTGCAGCCAGCGAGATCACA       c.420
 K  L  S  L  C  V  A  P  G  K  A  C  S  P  A  A  S  E  I  T         p.140

          .         .         .         .         .         .       g.6451
 GGTCTGAGCACAGCTGTGCTGGCAGCGCATGGGCGTCAATGTTTTGATGACAACCTGGCC       c.480
 G  L  S  T  A  V  L  A  A  H  G  R  Q  C  F  D  D  N  L  A         p.160

          .         .         .         .         .         .       g.6511
 AACCTGCTCCTAGCCTTCCTGCGGCGCCAGCCACAGCCCTGGTGCCTGGTGGCACACAAT       c.540
 N  L  L  L  A  F  L  R  R  Q  P  Q  P  W  C  L  V  A  H  N         p.180

          .         .         .         .         .         .       g.6571
 GGTGACCGCTACGACTTCCCCCTGCTCCAAGCAGAGCTGGCTATGCTGGGCCTCACCAGT       c.600
 G  D  R  Y  D  F  P  L  L  Q  A  E  L  A  M  L  G  L  T  S         p.200

          .         .         .         .         .         .       g.6631
 GCTCTGGATGGTGCCTTCTGTGTGGATAGCATCACTGCGCTGAAGGCCCTGGAGCGAGCA       c.660
 A  L  D  G  A  F  C  V  D  S  I  T  A  L  K  A  L  E  R  A         p.220

          .         .         .         .         .         .       g.6691
 AGCAGCCCCTCAGAACACGGCCCAAGGAAGAGCTACAGCCTAGGCAGCATCTACACTCGC       c.720
 S  S  P  S  E  H  G  P  R  K  S  Y  S  L  G  S  I  Y  T  R         p.240

          .         .         .         .         .         .       g.6751
 CTGTATGGGCAGTCCCCTCCAGACTCGCACACGGCTGAGGGTGATGTCCTGGCCCTGCTC       c.780
 L  Y  G  Q  S  P  P  D  S  H  T  A  E  G  D  V  L  A  L  L         p.260

          .         .         .         .         .         .       g.6811
 AGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGATGCTCACGCCAGGCCT       c.840
 S  I  C  Q  W  R  P  Q  A  L  L  R  W  V  D  A  H  A  R  P         p.280

          .         .         .         .         .         .       g.6871
 TTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCA       c.900
 F  G  T  I  R  P  M  Y  G  V  T  A  S  A  R  T  K  P  R  P         p.300

          .         .         .         .         .         .       g.6931
 TCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGA       c.960
 S  A  V  T  T  T  A  H  L  A  T  T  R  N  T  S  P  S  L  G         p.320

          .         .         .         .         .         .       g.6991
 GAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTATCCAGGGAG       c.1020
 E  S  R  G  T  K  D  L  P  P  V  K  D  P  G  A  L  S  R  E         p.340

          .         .         .         .         .         .       g.7051
 GGGCTGCTGGCCCCACTGGGTCTGCTGGCCATCCTGACCTTGGCAGTAGCCACACTGTAT       c.1080
 G  L  L  A  P  L  G  L  L  A  I  L  T  L  A  V  A  T  L  Y         p.360

          .         .         .                                     g.7081
 GGACTATCCCTGGCCACACCTGGGGAGTAG                                     c.1110
 G  L  S  L  A  T  P  G  E  X                                       p.369

          .         .         .         .                           g.7126
 gccaagaaggaaaatctgacgaataaagacccccgctgccccata                      c.*45

 (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 Three prime repair exonuclease 1 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.