chromosome X open reading frame 56 (CXorf56) - coding DNA reference sequence

(used for variant description)

(last modified September 8, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_022101.3 in the CXorf56 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_016378.1, covering CXorf56 transcript NM_022101.3.

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

 (upstream sequence)
                                                   .                g.5019
                                          aggtgcaaggcgcactcgt       c.-61

 .         .         .         .         .         .                g.5079
 gacgtcatttcggggcgaccctcttcttggcgtagagttttcagattgctcttgggaatc       c.-1

          .         .         .         .         .         .       g.5139
 ATGCCGAAAGTAGTGTCTCGGTCAGTAGTCTGCTCTGACACTCGGGACCGGGAGGAATAT       c.60
 M  P  K  V  V  S  R  S  V  V  C  S  D  T  R  D  R  E  E  Y         p.20

          .         .         .         .         .         .       g.5199
 GACGACGGCGAGAAGCCCCTCCATGTTTACTACTGTTTGTGCGGCCAGATGGTCCTAGTG       c.120
 D  D  G  E  K  P  L  H  V  Y  Y  C  L  C  G  Q  M  V  L  V         p.40

      | 02   .         .         .         .         .         .    g.10105
 CTGG | ACTGCCAGTTAGAGAAATTGCCCATGAGGCCCCGGGACCGGTCCCGTGTGATTGAT    c.180
 L  D |   C  Q  L  E  K  L  P  M  R  P  R  D  R  S  R  V  I  D      p.60

          .         .         .         .         .         .       g.10165
 GCTGCCAAACATGCCCATAAGTTTTGTAACACAGAAGATGAGGAGACTATGTATCTGCGG       c.240
 A  A  K  H  A  H  K  F  C  N  T  E  D  E  E  T  M  Y  L  R         p.80

    | 03     .         .         .         .     | 04   .         . g.25959
 AG | ACCTGAAGGCATTGAACGACAGTACAGGAAGAAATGTGCAAA | GTGTGGACTGCCGCTC c.300
 R  |  P  E  G  I  E  R  Q  Y  R  K  K  C  A  K  |  C  G  L  P  L   p.100

          .         .         .         .         .         .       g.26019
 TTCTACCAATCCCAGCCAAAGAATGCTCCTGTTACCTTCATTGTGGATGGAGCAGTAGTC       c.360
 F  Y  Q  S  Q  P  K  N  A  P  V  T  F  I  V  D  G  A  V  V         p.120

          .         .         .         .         .         .       g.26079
 AAGTTTGGCCAGGGCTTTGGGAAAACGAACATATATACTCAGAAACAAGAGCCTCCTAAG       c.420
 K  F  G  Q  G  F  G  K  T  N  I  Y  T  Q  K  Q  E  P  P  K         p.140

     | 05    .         .         .         .         .         .    g.27897
 AAG | GTGATGATGACCAAACGGACCAAAGACATGGGCAAGTTCAGTTCTGTCACCGTGTCT    c.480
 K   | V  M  M  T  K  R  T  K  D  M  G  K  F  S  S  V  T  V  S      p.160

          .         .         .    | 06    .         .         .    g.29041
 ACCATTGATGAAGAGGAAGAGGAGATTGAGGCT | AGGGAAGTTGCTGACTCATATGCACAG    c.540
 T  I  D  E  E  E  E  E  I  E  A   | R  E  V  A  D  S  Y  A  Q      p.180

          .         .         .         .         .         .       g.29101
 AATGCCAAAGTGATTGAAAAACAGCTGGAGCGCAAAGGCATGAGCAAGAGGCGACTGCAA       c.600
 N  A  K  V  I  E  K  Q  L  E  R  K  G  M  S  K  R  R  L  Q         p.200

        | 07 .         .         .         .         .         .    g.30699
 GAGCTG | GCTGAATTGGAAGCCAAGAAAGCGAAAATGAAGGGGACCTTGATTGACAACCAG    c.660
 E  L   | A  E  L  E  A  K  K  A  K  M  K  G  T  L  I  D  N  Q      p.220

                                                                    g.30708
 TTCAAATAA                                                          c.669
 F  K  X                                                            p.222

          .         .         .         .         .         .       g.30768
 ccaggcctttttctaagccctagactagaggcaagcatttagatcaggaggcaaagtaat       c.*60

          .         .         .         .         .         .       g.30828
 ttcttgattacatagacggattcctatttatgccctagcagaaggctttacgttgtttcc       c.*120

          .         .         .         .         .         .       g.30888
 cattgattctcctacattcagtgaggtctttaactgagtccatttaacttgctttctttt       c.*180

          .         .         .         .         .         .       g.30948
 ttttttttttttttttgagataaagtcttgctctttcgcccaggatggagtgcagtggtg       c.*240

          .         .         .         .         .         .       g.31008
 cgatctcggctcactgcaacctccgcctcccgggttcaagcagttctcctgcctcagcct       c.*300

          .         .         .         .         .         .       g.31068
 cctgagtagctgggattacaggcatgtgccaccacgcctggctaatttttgtatttttag       c.*360

          .         .         .         .         .         .       g.31128
 tagagacgggttccaccatgttggccaggctggtctccaactcctgacctcaaatgatcc       c.*420

          .         .         .         .         .         .       g.31188
 acccacctaggcctcccaaagtgctgggattacaggagtgagccaccgtgcccagccttg       c.*480

          .         .         .         .         .         .       g.31248
 ccctgctttctaggagatggagttttctgaatttttctgtatttaggttttctgtactat       c.*540

          .         .         .         .         .         .       g.31308
 tttttgtccacttgatgcaaacttcttcagctgtgtagaaactttatgaatagatgagtg       c.*600

          .         .         .         .         .         .       g.31368
 cttgagtgtctccagtctctaaagtggctgcttttattctttcttcaaagttaataacat       c.*660

          .         .         .         .         .         .       g.31428
 gttgcaagatttttggacaaaatattatggtgtgtcataggaaaagcaccatgaattata       c.*720

          .         .         .         .         .         .       g.31488
 tttaggtatagcaagtcagatcctttgaagtgactctgtctctgttcttagaagggttct       c.*780

          .         .         .         .         .         .       g.31548
 tggaattggctgtggtttgaatctttctactgtcagaggagacccattaaaagccagaat       c.*840

          .         .         .         .         .         .       g.31608
 ctgcataaagctttctttacttcaaacactgaagctgtaggcgagccatcccgtatcgac       c.*900

          .         .         .         .         .         .       g.31668
 tttatactcaaagaaggaaaagccagattgcagtgagtgggtaggacagctcagatccaa       c.*960

          .         .         .         .         .         .       g.31728
 atgaaagtagggtctcaagtaacccaagggtggccgggtacggtggctcacgcctgtaat       c.*1020

          .         .         .         .         .         .       g.31788
 cctagcagtttgggaggcagaggcgggcagattgcctgagctcaggagtttgagaccagc       c.*1080

          .         .         .         .         .         .       g.31848
 ctgggcaacatggtgaaaccctgtctctactaaaatacaaaagaaattagccaggtgtgg       c.*1140

          .         .         .         .         .         .       g.31908
 cggcatacccctgtagtcacggctacttgggaggcagaggcaggagaattgcttgaactc       c.*1200

          .         .         .         .         .         .       g.31968
 gggaggtggaggttgcagtgagctgagattgcaccactgtactccagcactccagcctgg       c.*1260

          .         .         .         .         .         .       g.32028
 gcgacagagtgagactctgtctctacaaaaaaaaaaaaaaaaaaaagtaacccaagggag       c.*1320

          .         .         .         .         .         .       g.32088
 ggagctaccctctagtcgggcagctgatactgcttccttgcatggatacatgggagggag       c.*1380

          .         .         .         .         .         .       g.32148
 acgttatagattaagaaatgatagcaagataaacaaaatgatttgttgggtatcttttac       c.*1440

          .         .         .         .         .         .       g.32208
 tttacatttgttatttgcagaggagtgttgtatatatagatgttattttatgtcacactg       c.*1500

          .         .         .         .         .         .       g.32268
 cttcaatgatacctatatccatgtgtttgtatccatgtttttatccattcaactgtatta       c.*1560

          .                                                         g.32286
 aaaggtgttgggacagga                                                 c.*1578

 (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 Chromosome X open reading frame 56 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.