interferon regulatory factor 8 (IRF8) - 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 IRF8 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000016.9, covering IRF8 transcript NM_002163.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .         | 02    g.4848
    agcgcggcagcaagcgtgggaacgcgggcggcgagacggcggcaggacggcggcag | g    c.-1

          .         .         .         .         .         .       g.4908
 ATGTGTGACCGGAATGGTGGTCGGCGGCTTCGACAGTGGCTGATCGAGCAGATTGACAGT       c.60
 M  C  D  R  N  G  G  R  R  L  R  Q  W  L  I  E  Q  I  D  S         p.20

          .         .         .         .         .         .       g.4968
 AGCATGTATCCAGGACTGATTTGGGAGAATGAGGAGAAGAGCATGTTCCGGATCCCTTGG       c.120
 S  M  Y  P  G  L  I  W  E  N  E  E  K  S  M  F  R  I  P  W         p.40

          .         .         .         .         .     | 03   .    g.10828
 AAACACGCTGGCAAGCAAGATTATAATCAGGAAGTGGATGCCTCCATTTTTAAG | GCCTGG    c.180
 K  H  A  G  K  Q  D  Y  N  Q  E  V  D  A  S  I  F  K   | A  W      p.60

          .         .         .         .         .         .       g.10888
 GCAGTTTTTAAAGGGAAGTTTAAAGAAGGGGACAAAGCTGAACCAGCCACTTGGAAGACG       c.240
 A  V  F  K  G  K  F  K  E  G  D  K  A  E  P  A  T  W  K  T         p.80

          .         .         .         .         .         .       g.10948
 AGGTTACGCTGTGCTTTGAATAAGAGCCCAGATTTTGAGGAAGTGACGGACCGGTCCCAA       c.300
 R  L  R  C  A  L  N  K  S  P  D  F  E  E  V  T  D  R  S  Q         p.100

          .         .         .         .         .         | 04    g.13404
 CTGGACATTTCCGAGCCATACAAAGTTTACCGAATTGTTCCTGAGGAAGAGCAAAAAT | GC    c.360
 L  D  I  S  E  P  Y  K  V  Y  R  I  V  P  E  E  E  Q  K  C |       p.120

          .         .         .         .         .         .       g.13464
 AAACTAGGCGTGGCAACTGCTGGCTGCGTGAATGAAGTTACAGAGATGGAGTGCGGTCGC       c.420
 K  L  G  V  A  T  A  G  C  V  N  E  V  T  E  M  E  C  G  R         p.140

          .         .        | 05.         .         .         .    g.14996
 TCTGAAATCGACGAGCTGATCAAGGAG | CCTTCTGTGGACGATTACATGGGGATGATCAAA    c.480
 S  E  I  D  E  L  I  K  E   | P  S  V  D  D  Y  M  G  M  I  K      p.160

          .         .         .         .         .         .       g.15056
 AGGAGCCCTTCCCCGCCGGAGGCCTGTCGGAGTCAGCTCCTTCCAGACTGGTGGGCGCAG       c.540
 R  S  P  S  P  P  E  A  C  R  S  Q  L  L  P  D  W  W  A  Q         p.180

          .    | 06    .         .         .         .         .    g.16352
 CAGCCCAGCACAG | GCGTGCCGCTGGTGACGGGGTACACCACCTACGACGCGCACCATTCA    c.600
 Q  P  S  T  G |   V  P  L  V  T  G  Y  T  T  Y  D  A  H  H  S      p.200

   | 07      .         .         .         .         .         .    g.20308
 G | CATTCTCCCAGATGGTGATCAGCTTCTACTATGGGGGCAAGCTGGTGGGCCAGGCCACC    c.660
 A |   F  S  Q  M  V  I  S  F  Y  Y  G  G  K  L  V  G  Q  A  T      p.220

          .         .         .         .         .         .       g.20368
 ACCACCTGCCCCGAGGGCTGCCGCCTGTCCCTGAGCCAGCCTGGGCTGCCCGGCACCAAG       c.720
 T  T  C  P  E  G  C  R  L  S  L  S  Q  P  G  L  P  G  T  K         p.240

          .         .         .         .         .         .       g.20428
 CTGTATGGGCCCGAGGGCCTGGAGCTGGTGCGCTTCCCGCCGGCCGACGCCATCCCCAGC       c.780
 L  Y  G  P  E  G  L  E  L  V  R  F  P  P  A  D  A  I  P  S         p.260

          .         .         .         .         .         .       g.20488
 GAGCGACAGAGGCAGGTGACGCGGAAGCTGTTCGGGCACCTGGAGCGCGGGGTGCTGCTG       c.840
 E  R  Q  R  Q  V  T  R  K  L  F  G  H  L  E  R  G  V  L  L         p.280

          .         .         .         .         .         .       g.20548
 CACAGCAGCCGGCAGGGCGTGTTCGTCAAGCGGCTGTGCCAGGGCCGCGTGTTCTGCAGC       c.900
 H  S  S  R  Q  G  V  F  V  K  R  L  C  Q  G  R  V  F  C  S         p.300

          .         .         .         .         .         .       g.20608
 GGCAACGCCGTGGTGTGCAAAGGCAGGCCCAACAAGCTGGAGCGTGATGAGGTGGTCCAG       c.960
 G  N  A  V  V  C  K  G  R  P  N  K  L  E  R  D  E  V  V  Q         p.320

          .         .         | 08         .         .         .    g.21973
 GTCTTCGACACCAGCCAGTTCTTCCGAG | AGCTGCAGCAGTTCTATAACAGCCAGGGCCGG    c.1020
 V  F  D  T  S  Q  F  F  R  E |   L  Q  Q  F  Y  N  S  Q  G  R      p.340

          .         .         .         .         .         .       g.22033
 CTTCCTGACGGCAGGGTGGTGCTGTGCTTTGGGGAAGAGTTTCCGGATATGGCCCCCTTG       c.1080
 L  P  D  G  R  V  V  L  C  F  G  E  E  F  P  D  M  A  P  L         p.360

          .         .     | 09   .         .         .         .    g.22974
 CGCTCCAAACTCATTCTCGTGCAG | ATTGAGCAGCTGTATGTCCGGCAACTGGCAGAAGAG    c.1140
 R  S  K  L  I  L  V  Q   | I  E  Q  L  Y  V  R  Q  L  A  E  E      p.380

          .         .         .         .         .         .       g.23034
 GCTGGGAAGAGCTGTGGAGCCGGCTCTGTGATGCAGGCCCCCGAGGAGCCGCCGCCAGAC       c.1200
 A  G  K  S  C  G  A  G  S  V  M  Q  A  P  E  E  P  P  P  D         p.400

          .         .         .         .         .         .       g.23094
 CAGGTCTTCCGGATGTTTCCAGATATTTGTGCCTCACACCAGAGATCATTTTTCAGAGAA       c.1260
 Q  V  F  R  M  F  P  D  I  C  A  S  H  Q  R  S  F  F  R  E         p.420

          .         .                                               g.23115
 AACCAACAGATCACCGTCTAA                                              c.1281
 N  Q  Q  I  T  V  X                                                p.426

          .         .         .         .         .         .       g.23175
 gtgcgtcgcttgggcgccccaccccgtctgcgtcctgcatccatctccctgttacagtgg       c.*60

          .         .         .         .         .         .       g.23235
 cccgcatcatgattaaagaatgtggatccctctgtctggggtgggatgccttactttgca       c.*120

          .         .         .         .         .         .       g.23295
 cttaatttaataagggcattctcggaggagtagacgtttaatacgaagtggcggcatagc       c.*180

          .         .         .         .         .         .       g.23355
 cctgccgagatgtcggtgatggcctggatgctgtaaccacaacctgtggctaaaaatttt       c.*240

          .         .         .         .         .         .       g.23415
 attttctatcctttacccgtcattatcattagttgctatgattctttctgcattttcggt       c.*300

          .         .         .         .         .         .       g.23475
 taactatcatttccaaagacttgtcattcagtaatattagcagatagctgcttcgataaa       c.*360

          .         .         .         .         .         .       g.23535
 ggaatttggagtttaaaaatcaacttgtgaaaacaaggttgtttttgtctttatcgtttg       c.*420

          .         .         .         .         .         .       g.23595
 ttagagttatagatttatgatttcataggcttgattctatgtgaaatatctttttacttt       c.*480

          .         .         .         .         .         .       g.23655
 tatgcattttaataagatttaaaaatatttagattaaagccccctttaatgagtacaaga       c.*540

          .         .         .         .         .         .       g.23715
 aaaactcttggcttgttagaagaaagtatattctttctagaatttggtgcaggaatatgt       c.*600

          .         .         .         .         .         .       g.23775
 gttcatatccaggcaaacgggtgtgtttttatcttcagacaatgaaaccttctcctctgg       c.*660

          .         .         .         .         .         .       g.23835
 ggctttgttgccaggaagattagaactaaatttatttttttcatttctgtcatgaaatca       c.*720

          .         .         .         .         .         .       g.23895
 ttccagatacctcttttcttctttccaaatggttttcacatgtgtttgaaatatttgtac       c.*780

          .         .         .         .         .         .       g.23955
 ttcgaattgtcggattttccatgtcctcctttctcctttgtgcccagcctgagtcagcac       c.*840

          .         .         .         .         .         .       g.24015
 caatcccgcattcagaacctcccagtgaaagggcagccttcattttgagaaggtggaagg       c.*900

          .         .         .         .         .         .       g.24075
 tgttagggtttgggagacagctcatccaatctcccaagtctcatggtggatttgtgactg       c.*960

          .         .         .         .         .         .       g.24135
 tgagagtttccggtttaaaatctgaaaagccagatatgcctgtttccttttcccagcacc       c.*1020

          .         .         .         .         .         .       g.24195
 atgcctgtggaggggacagtcagacccagaggtcctttacgtgtggatggagttcacagg       c.*1080

          .         .         .         .         .         .       g.24255
 cgaatagaggagaggaccaggggacgtggcttgtcccttttgtccaacaaagcattatat       c.*1140

          .         .         .         .         .         .       g.24315
 ttttaagaatggcagacctgtttgctgaagtgttcataagataacaataggcttgaatct       c.*1200

          .         .         .         .         .         .       g.24375
 ccaattcaaatgaatgtcaaagcacatatctttaatatgctgaatgaatatttatttttg       c.*1260

          .         .         .         .         .         .       g.24435
 tatccattaaaacagtatattgatctcttttattctttattaaaataaaatgctcttttt       c.*1320

                                                                    g.24439
 taaa                                                               c.*1324

 (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 10th nucleotide is indicated by a "." above the sequence. The Interferon regulatory factor 8 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th 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.

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