WD repeat domain 45 (WDR45) - coding DNA reference sequence

(used for variant description)

(last modified January 26, 2018)

This file was created to facilitate the description of sequence variants on transcript NM_007075.3 in the WDR45 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_033004.1, covering WDR45 transcript NM_007075.3.

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

 (upstream sequence)
                                                   .                g.5019
                                          ggctcccacaccactgcct       c.-421

 .         .         .         .         .         .   | 02         g.5574
 cgtgtggggttgttcgcccgtgaaggggcaggacagggtgcgcgctggtggag | gttgaaa    c.-361

 .         .         .         .         .         .                g.5634
 ttgttacattttggccgggcgcggtggctcacgcctgtaatcccagcactttgggaggcc       c.-301

 .         .         .         .         .         .                g.5694
 gaggcaggtggatcacgaggtcaggagatcgagaccatcctggctaacacagtgaaaccc       c.-241

 .         .         .         .         .         .                g.5754
 cgtctctactaaaaaaatacaaaaaatcagccgggcgtggtgacgggcgcctgtagtccc       c.-181

 .         .         .         .         .         .                g.5814
 agctactcaggaggctgaggcaggaggatggcgtgaacccgggaggcggagcttgcagtg       c.-121

 .         .         .         .         .         .                g.5874
 agccgagatcgcgccagtgcactccagcctgggcgacagagcgaaactacgtctcaaaaa       c.-61

 .         .         .         .         .   | 03     .             g.27305
 aaaaaaaaaagaaagaaaagaaattgttacattttatatatat | aggaacaatcctgcacc    c.-1

          .         .         .         .         .      | 04  .    g.27494
 ATGACTCAACAGCCACTTCGAGGAGTGACCAGCCTGCGTTTCAACCAAGACCAAA | GCTGC    c.60
 M  T  Q  Q  P  L  R  G  V  T  S  L  R  F  N  Q  D  Q  S |   C      p.20

          .         .         .         .         .         .       g.27554
 TTTTGCTGCGCCATGGAGACAGGTGTGCGCATCTACAACGTGGAGCCCTTGATGGAGAAG       c.120
 F  C  C  A  M  E  T  G  V  R  I  Y  N  V  E  P  L  M  E  K         p.40

          . | 05       .         .         .         .         .    g.27703
 GGGCATCTGG | ACCACGAGCAGGTGGGCAGCATGGGCTTGGTGGAGATGCTGCACCGCTCC    c.180
 G  H  L  D |   H  E  Q  V  G  S  M  G  L  V  E  M  L  H  R  S      p.60

          .         .         .         .         .      | 06  .    g.28652
 AACCTTCTGGCCTTGGTGGGCGGTGGTAGTAGTCCCAAGTTCTCAGAGATCTCAG | CAGTG    c.240
 N  L  L  A  L  V  G  G  G  S  S  P  K  F  S  E  I  S  A |   V      p.80

          .         .         .         .         .         .       g.28712
 CTGATCTGGGACGATGCCCGGGAGGGCAAGGACTCCAAGGAGAAGCTGGTGCTGGAGTTC       c.300
 L  I  W  D  D  A  R  E  G  K  D  S  K  E  K  L  V  L  E  F         p.100

          .         .         .         .     | 07   .         .    g.28892
 ACCTTCACCAAGCCAGTGCTTTCTGTGCGCATGCGCCATGACAA | GATCGTGATCGTGCTG    c.360
 T  F  T  K  P  V  L  S  V  R  M  R  H  D  K  |  I  V  I  V  L      p.120

          .         .         .         .         .         .       g.28952
 AAGAACCGCATCTATGTGTACTCCTTCCCCGACAATCCCCGAAAGCTGTTTGAGTTTGAT       c.420
 K  N  R  I  Y  V  Y  S  F  P  D  N  P  R  K  L  F  E  F  D         p.140

          .          | 08        .         .         .         .    g.29496
 ACCCGGGACAACCCCAAGG | GGCTCTGTGACCTCTGCCCCAGCCTGGAGAAGCAACTGCTA    c.480
 T  R  D  N  P  K  G |   L  C  D  L  C  P  S  L  E  K  Q  L  L      p.160

          .         .         .          | 09        .         .    g.29668
 GTGTTCCCGGGACACAAGTGTGGGAGTCTGCAACTTGTG | GACCTGGCGAGCACAAAGCCT    c.540
 V  F  P  G  H  K  C  G  S  L  Q  L  V   | D  L  A  S  T  K  P      p.180

          .         .         .         .         .         .       g.29728
 GGCACCTCGTCTGCTCCATTCACGATCAATGCACATCAGAGTGACATAGCCTGTGTGTCT       c.600
 G  T  S  S  A  P  F  T  I  N  A  H  Q  S  D  I  A  C  V  S         p.200

          .         .         .         .         .         .       g.29788
 CTAAACCAGCCAGGCACTGTAGTGGCCTCAGCCTCCCAGAAGGGTACCCTTATTCGCCTC       c.660
 L  N  Q  P  G  T  V  V  A  S  A  S  Q  K  G  T  L  I  R  L         p.220

          .         .         .         .         .         .       g.29848
 TTTGACACACAATCCAAGGAGAAACTGGTGGAGCTGCGCCGAGGCACTGACCCTGCCACC       c.720
 F  D  T  Q  S  K  E  K  L  V  E  L  R  R  G  T  D  P  A  T         p.240

          | 10         .         .         .         .         .    g.29987
 CTCTACTG | CATTAACTTCAGCCACGACTCCTCCTTCCTCTGCGCTTCCAGTGATAAGGGT    c.780
 L  Y  C  |  I  N  F  S  H  D  S  S  F  L  C  A  S  S  D  K  G      p.260

          .         .         .         .         . | 11       .    g.30129
 ACTGTCCATATCTTTGCTCTCAAGGATACCCGCCTCAACCGCCGCTCCGC | GCTGGCTCGC    c.840
 T  V  H  I  F  A  L  K  D  T  R  L  N  R  R  S  A  |  L  A  R      p.280

          .         .         .         .         .         .       g.30189
 GTGGGCAAGGTGGGGCCTATGATTGGGCAGTACGTGGACTCTCAGTGGAGCCTGGCGAGC       c.900
 V  G  K  V  G  P  M  I  G  Q  Y  V  D  S  Q  W  S  L  A  S         p.300

          .         .         .         .         .         .       g.30249
 TTCACTGTGCCTGCTGAGTCAGCTTGCATCTGCGCCTTCGGTCGCAATACTTCCAAGAAC       c.960
 F  T  V  P  A  E  S  A  C  I  C  A  F  G  R  N  T  S  K  N         p.320

          .       | 12 .         .         .         .         .    g.30532
 GTCAACTCTGTCATTG | CCATCTGCGTAGATGGGACCTTCCACAAATATGTCTTCACTCCT    c.1020
 V  N  S  V  I  A |   I  C  V  D  G  T  F  H  K  Y  V  F  T  P      p.340

          .         .         .         .         .         .       g.30592
 GATGGAAACTGCAACAGAGAGGCTTTCGACGTGTACCTTGACATCTGTGATGATGATGAC       c.1080
 D  G  N  C  N  R  E  A  F  D  V  Y  L  D  I  C  D  D  D  D         p.360

                                                                    g.30598
 TTTTAA                                                             c.1086
 F  X                                                               p.361

          .         .         .         .         .         .       g.30658
 ggaccctgggggctgtgctagggacctgcagtggcagaactgcagagctgagccttggca       c.*60

          .         .         .         .         .         .       g.30718
 gtggggcgtgcttggaagccaccagccagcaagcattaatggggctggtgcccactttcc       c.*120

          .         .         .         .         .         .       g.30778
 actcagcagagctatgtctaaataaagagctcacttccccccagcacttcttgatgactg       c.*180

          .         .         .         .         .         .       g.30838
 tgtgccccaagggccaggccagagacccaggaaggcagcgaccccttgggatccctaacc       c.*240

          .         .         .         .         .         .       g.30898
 tggaggaaattgccagggacccagagggagtgccctaatccaacctggggattttttaaa       c.*300

          .         .         .         .         .         .       g.30958
 agcttcctaggaagagatgatctccgatgtgatgaatacgaataaaaggcccttaatggc       c.*360

          .                                                         g.30968
 atttacggct                                                         c.*370

 (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 WD repeat domain 45 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.