histone deacetylase 8 (HDAC8) - coding DNA reference sequence

(used for variant description)

(last modified June 24, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_018486.2 in the HDAC8 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_015851.1, covering HDAC8 transcript NM_018486.2.

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

 (upstream sequence)
                     .         .         .         .                g.5042
                   aaatggccccgtagggcaacaaggatggttagttttgaccct       c.-301

 .         .         .         .         .         .                g.5102
 acttatttgtgccataaaaacaatcgatcctaattgacagctatttggacttttacatct       c.-241

 .         .         .         .         .         .                g.5162
 gccaaacccttttccttgaactgtggtcactaaatgaggggagtctggtctgggaagtcc       c.-181

 .         .         .         .         .         .                g.5222
 catccattccttcaataggatggggagcggtgatagtgtctccggcgatctcaagaatag       c.-121

 .         .         .         .         .         .                g.5282
 gagggaatgttgaccagggagcaccgctgcggccgatcagaggagcaggaactggaaccc       c.-61

 .         .         .         .         .         .                g.5342
 tggccgagtccgaaaaaagccagatctggaaggtggctgcggaacggttttaagcggaag       c.-1

          .         .         .         .         .         .       g.5402
 ATGGAGGAGCCGGAGGAACCGGCGGACAGTGGGCAGTCGCTGGTCCCGGTTTATATCTAT       c.60
 M  E  E  P  E  E  P  A  D  S  G  Q  S  L  V  P  V  Y  I  Y         p.20

          .         .         .         .         .  | 02      .    g.6003
 AGTCCCGAGTATGTCAGTATGTGTGACTCCCTGGCCAAGATCCCCAAACGG | GCCAGTATG    c.120
 S  P  E  Y  V  S  M  C  D  S  L  A  K  I  P  K  R   | A  S  M      p.40

          .         .         .         .     | 03   .         .    g.9235
 GTGCATTCTTTGATTGAAGCATATGCACTGCATAAGCAGATGAG | GATAGTTAAGCCTAAA    c.180
 V  H  S  L  I  E  A  Y  A  L  H  K  Q  M  R  |  I  V  K  P  K      p.60

          .         .         .         .         .         .       g.9295
 GTGGCCTCCATGGAGGAGATGGCCACCTTCCACACTGATGCTTATCTGCAGCATCTCCAG       c.240
 V  A  S  M  E  E  M  A  T  F  H  T  D  A  Y  L  Q  H  L  Q         p.80

          .         .         .         .         .      | 04  .    g.10078
 AAGGTCAGCCAAGAGGGCGATGATGATCATCCGGACTCCATAGAATATGGGCTAG | GTTAT    c.300
 K  V  S  Q  E  G  D  D  D  H  P  D  S  I  E  Y  G  L  G |   Y      p.100

          .         .         .         .         .         .       g.10138
 GACTGCCCAGCCACTGAAGGGATATTTGACTATGCAGCAGCTATAGGAGGGGCTACGATC       c.360
 D  C  P  A  T  E  G  I  F  D  Y  A  A  A  I  G  G  A  T  I         p.120

          .         .         .         .         .         .       g.10198
 ACAGCTGCCCAATGCCTGATTGACGGAATGTGCAAAGTAGCAATTAACTGGTCTGGAGGG       c.420
 T  A  A  Q  C  L  I  D  G  M  C  K  V  A  I  N  W  S  G  G         p.140

          .        | 05.         .         .         .         .    g.82878
 TGGCATCATGCAAAGAA | AGATGAAGCATCTGGTTTTTGTTATCTCAATGATGCTGTCCTG    c.480
 W  H  H  A  K  K  |  D  E  A  S  G  F  C  Y  L  N  D  A  V  L      p.160

          .         .         .         .         .         .       g.82938
 GGAATATTACGATTGCGACGGAAATTTGAGCGTATTCTCTACGTGGATTTGGATCTGCAC       c.540
 G  I  L  R  L  R  R  K  F  E  R  I  L  Y  V  D  L  D  L  H         p.180

          . | 06       .         .         .         .         .    g.87147
 CATGGAGATG | GTGTAGAAGACGCATTCAGTTTCACCTCCAAAGTCATGACCGTGTCCCTG    c.600
 H  G  D  G |   V  E  D  A  F  S  F  T  S  K  V  M  T  V  S  L      p.200

          .         .         | 07         .         .         .    g.89094
 CACAAATTCTCCCCAGGATTTTTCCCAG | GAACAGGTGACGTGTCTGATGTTGGCCTAGGG    c.660
 H  K  F  S  P  G  F  F  P  G |   T  G  D  V  S  D  V  G  L  G      p.220

          .         .         .         .         .         .       g.89154
 AAGGGACGGTACTACAGTGTAAATGTGCCCATTCAGGATGGCATACAAGATGAAAAATAT       c.720
 K  G  R  Y  Y  S  V  N  V  P  I  Q  D  G  I  Q  D  E  K  Y         p.240

          .        | 08.         .         .         .         .    g.113415
 TACCAGATCTGTGAAAG | TGTACTAAAGGAAGTATACCAAGCCTTTAATCCCAAAGCAGTG    c.780
 Y  Q  I  C  E  S  |  V  L  K  E  V  Y  Q  A  F  N  P  K  A  V      p.260

          .         .         .         .         .         .       g.113475
 GTCTTACAGCTGGGAGCTGACACAATAGCTGGGGATCCCATGTGCTCCTTTAACATGACT       c.840
 V  L  Q  L  G  A  D  T  I  A  G  D  P  M  C  S  F  N  M  T         p.280

          .         .         .         .         .         .       g.113535
 CCAGTGGGAATTGGCAAGTGTCTTAAGTACATCCTTCAATGGCAGTTGGCAACACTCATT       c.900
 P  V  G  I  G  K  C  L  K  Y  I  L  Q  W  Q  L  A  T  L  I         p.300

          . | 09       .         .         .         .         .    g.116055
 TTGGGAGGAG | GAGGCTATAACCTTGCCAACACGGCTCGATGCTGGACATACTTGACCGGG    c.960
 L  G  G  G |   G  Y  N  L  A  N  T  A  R  C  W  T  Y  L  T  G      p.320

          .         .         .         .      | 10  .         .    g.226280
 GTCATCCTAGGGAAAACACTATCCTCTGAGATCCCAGATCATGAG | TTTTTCACAGCATAT    c.1020
 V  I  L  G  K  T  L  S  S  E  I  P  D  H  E   | F  F  T  A  Y      p.340

          .         .         .         .         .         .       g.226340
 GGTCCTGATTATGTGCTGGAAATCACGCCAAGCTGCCGGCCAGACCGCAATGAGCCCCAC       c.1080
 G  P  D  Y  V  L  E  I  T  P  S  C  R  P  D  R  N  E  P  H         p.360

          .         .         .  | 11      .         .              g.248056
 CGAATCCAACAAATCCTCAACTACATCAAAG | GGAATCTGAAGCATGTGGTCTAG          c.1134
 R  I  Q  Q  I  L  N  Y  I  K  G |   N  L  K  H  V  V  X            p.377

          .         .         .         .         .         .       g.248116
 ttgacagaaagagatcaggtttccagagctgaggagtggtgcctataatgaagacagcgt       c.*60

          .         .         .         .         .         .       g.248176
 gtttatgcaagcagtttgtggaatttgtgactgcagggaaaatttgaaagaaattacttc       c.*120

          .         .         .         .         .         .       g.248236
 ctgaaaatttccaaggggcatcaagtggcagctggcttcctggggtgaagaggcaggcac       c.*180

          .         .         .         .         .         .       g.248296
 cccagagtcctcaactggacctaggggaagaaggagatatcccacatttaaagttcttat       c.*240

          .         .         .         .         .         .       g.248356
 ttaaaaaaacacacacacacaaatgaaatttttaatctttgaaaattatttttaagcgaa       c.*300

          .         .         .         .         .         .       g.248416
 ttggggaggggagtattttaatcatcttaaatgaaacagatcagaagctggatgagagca       c.*360

          .         .         .         .         .         .       g.248476
 gtcaccagtttgtagggcaggaggcagctgacaggcagggtttgggcctcaggaccatcc       c.*420

          .         .         .         .         .         .       g.248536
 aggtggagccctgggagagagggtactgatcagcagactgggaggtggggagaagtccgc       c.*480

          .         .         .         .         .                 g.248594
 tggtgttgttttagtgttatatatctttggtttttttaataaaatctttgaaaaccta         c.*538

 (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 Histone deacetylase 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 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.