chromobox homolog 3 (CBX3) - coding DNA reference sequence

(used for variant description)

(last modified December 26, 2023)

This file was created to facilitate the description of sequence variants on transcript NM_007276.4 in the CBX3 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000007.13, covering CBX3 transcript NM_007276.4.

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

 (upstream sequence)
                                                   .                g.5019
                                          cccttccggaaacacccga       c.-361

 .         .         .         .         .         .                g.5079
 atcaacttctagtcaaattattgttcacgccgcaatgacccacccctggcccgcgtctgt       c.-301

 .         .         .         .         .         .                g.5139
 ggaactgacccctggtgtacaggagagttcgctgctgaaagtggtcccaaaggggtacta       c.-241

 .         .         .         .         .         .                g.5199
 gtttttaagctcccaactccccctcccccagcgtctggaggattccacaccctcgcaccg       c.-181

 .         .         .         .         .         .                g.5259
 caggggcgaggaagtgggcggagtccggttttggcgccagccgctgaggctgccaagcag       c.-121

 .         .         .         .         .         .                g.5319
 aaaagccaccgctgaggagactccggtcactgtcctcgccccgcctcccccttccctccc       c.-61

 .         .         .         .  | 02      .         .             g.6788
 cttggggaccaccgggcgccacgccgcgaacg | taatagctcttcaagtctgcaataaaaa    c.-1

          .         .     | 03   .         .         .         .    g.10193
 ATGGCCTCCAACAAAACTACATTG | CAAAAAATGGGAAAAAAACAGAATGGAAAGAGTAAA    c.60
 M  A  S  N  K  T  T  L   | Q  K  M  G  K  K  Q  N  G  K  S  K      p.20

          .         .         .         .         .         .       g.10253
 AAAGTTGAAGAGGCAGAGCCTGAAGAATTTGTCGTGGAAAAAGTACTAGATCGACGTGTA       c.120
 K  V  E  E  A  E  P  E  E  F  V  V  E  K  V  L  D  R  R  V         p.40

          .         .         .         .        | 04.         .    g.12195
 GTGAATGGGAAAGTGGAATATTTCCTGAAGTGGAAGGGATTTACAGA | TGCTGACAATACT    c.180
 V  N  G  K  V  E  Y  F  L  K  W  K  G  F  T  D  |  A  D  N  T      p.60

          .         .         .         .         .         .       g.12255
 TGGGAACCTGAAGAAAATTTAGATTGTCCAGAATTGATTGAAGCGTTTCTTAACTCTCAG       c.240
 W  E  P  E  E  N  L  D  C  P  E  L  I  E  A  F  L  N  S  Q         p.80

          .         .         .         .         .         .       g.12315
 AAAGCTGGCAAAGAAAAAGATGGTACAAAAAGAAAATCTTTATCTGACAGTGAATCTGAT       c.300
 K  A  G  K  E  K  D  G  T  K  R  K  S  L  S  D  S  E  S  D         p.100

          .         .         . | 05       .         .         .    g.15481
 GACAGCAAATCAAAGAAGAAAAGAGATGCT | GCTGACAAACCAAGAGGATTTGCCAGAGGT    c.360
 D  S  K  S  K  K  K  R  D  A   | A  D  K  P  R  G  F  A  R  G      p.120

          .         .         .         .         .         .       g.15541
 CTTGATCCTGAAAGAATAATTGGTGCCACAGACAGCAGTGGAGAATTGATGTTTCTCATG       c.420
 L  D  P  E  R  I  I  G  A  T  D  S  S  G  E  L  M  F  L  M         p.140

       | 06  .         .         .         .         .         .    g.15926
 AAATG | GAAAGATTCAGATGAGGCAGACTTGGTGCTGGCGAAAGAGGCAAATATGAAGTGT    c.480
 K  W  |  K  D  S  D  E  A  D  L  V  L  A  K  E  A  N  M  K  C      p.160

          .         .         .         .         .         .       g.15986
 CCTCAAATTGTAATTGCTTTTTATGAAGAGAGACTAACTTGGCATTCTTGTCCAGAAGAT       c.540
 P  Q  I  V  I  A  F  Y  E  E  R  L  T  W  H  S  C  P  E  D         p.180

          .                                                         g.15998
 GAAGCTCAATAA                                                       c.552
 E  A  Q  X                                                         p.183

          .         .         .         .         .         .       g.16058
 ttgttcacattgttcttttatatatatttatatatatatataaaaattgggtcttagatt       c.*60

          .         .         .         .         .         .       g.16118
 ttgatttactagtgtgacaaaataactacatcctaatgaaaatcaagtttgatatgtttg       c.*120

          .         .         .         .         .         .       g.16178
 ttttgaaagtagcgttggaagagttgttgggggttttttgcatccatagcactggttact       c.*180

          .         .         .         .         .         .       g.16238
 ttgaacaaataaataaaagctttctgtagttgcttcctttatcagaaaagaacatttgat       c.*240

          .         .         .         .         .         .       g.16298
 accatggtatatcatttcctcttcattaaagaacagcttttctaaatgttgggggaaatg       c.*300

          .         .         .         .         .         .       g.16358
 tccatagtcattactcagtcaaaacttgtgttctcatgagcctaaggaccattctagatt       c.*360

          .         .         .         .         .         .       g.16418
 tattacgtgttttttgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtatccataaaatgcat       c.*420

          .         .         .         .         .         .       g.16478
 atgtaaatttttttttgtttttaagcattcacccaaacaaaaaaatcacaggtaaaccca       c.*480

          .         .         .         .         .         .       g.16538
 tgtttctgagatgccattattccaagcaaaataagagataatcccttcaagttaaattga       c.*540

          .         .         .         .         .         .       g.16598
 aaattttcctgaaaccatacatttcaagtgaaataagtaattctagataggacaatttaa       c.*600

          .         .         .         .         .         .       g.16658
 attggataattttaaagtgtctataattgcagtggtttatttgcaaaattcctaaaagga       c.*660

          .         .         .         .         .         .       g.16718
 aaaattttatcactgccatcacagcaggtttcctcatccagatgaggaaactagacaaat       c.*720

          .         .         .         .         .         .       g.16778
 gctagtgtgttttaactagctaaacaaaactaagttaaatgaacatttaaaagtttccct       c.*780

          .         .         .         .         .         .       g.16838
 agcgggccattccttagcaaaatgttggaatccctgttgctacattgactaaaaggtcat       c.*840

          .         .         .         .         .         .       g.16898
 gatgaatggaatatgtaagacttggctcatagaaacctaatcagatggttagaggtgttg       c.*900

          .         .         .         .         .         .       g.16958
 gcagtttaggacctgctgtcataaatgtgtgaacaaccttttgtaacctaacctattgac       c.*960

          .         .         .         .         .         .       g.17018
 ctgcatgttttttctttaccccaattcattacatggaggctcaatcttgagtttgcttta       c.*1020

          .         .         .         .         .         .       g.17078
 ctggttcagcaaaagccaggaagaacaactttgtagtaatcaaaatgttatccaactgta       c.*1080

          .         .         .         .         .         .       g.17138
 tattgtttactttattgtaaatactggtgaacagtggttaataaatagttttatattcct       c.*1140

          .         .         .         .         .         .       g.17198
 ttatgcaattattagacttttttctttatttgatatgcctttacagtagaaatagaaatg       c.*1200

          .         .         .         .         .         .       g.17258
 cccacactcattggattatctttgtttataagttagatgataccagtaaggcattacagt       c.*1260

          .         .         .         .         .         .       g.17318
 acatatcctagatcttttgagcttacgagttttaaacttgaatatgtatttccacaggaa       c.*1320

          .         .         .         .         .         .       g.17378
 tgtttccacagttgggaaataaaagtttcatgtgatgcctagggtcaattgtctcattaa       c.*1380

          .                                                         g.17397
 aatgaggttttaaattctg                                                c.*1399

 (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 Chromobox homolog 3 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.