iroquois homeobox 5 (IRX5) - coding DNA reference sequence

(used for variant description)

(last modified February 8, 2021)

This file was created to facilitate the description of sequence variants on transcript NM_005853.5 in the IRX5 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_032773.1, covering IRX5 transcript NM_005853.5.

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

 (upstream sequence)
          .         .         .         .         .         .       g.60
 ATGTCCTATCCGCAGGGCTACTTGTACCAGCCGTCCGCCTCGCTGGCGCTCTACTCGTGC       c.60
 M  S  Y  P  Q  G  Y  L  Y  Q  P  S  A  S  L  A  L  Y  S  C         p.20

          .         .         .         .         .         .       g.120
 CCGGCGTACAGCACCAGCGTCATTTCGGGGCCCCGCACGGATGAGCTCGGCCGCTCTTCT       c.120
 P  A  Y  S  T  S  V  I  S  G  P  R  T  D  E  L  G  R  S  S         p.40

          .         .         .         .         .         .       g.180
 TCGGGCTCCGCGTTCTCGCCCTACGCTGGCTCGACTGCCTTCACGGCGCCCTCGCCGGGC       c.180
 S  G  S  A  F  S  P  Y  A  G  S  T  A  F  T  A  P  S  P  G         p.60

          .         .         .         .         .         .       g.240
 TACAACTCGCACCTCCAGTACGGCGCCGACCCCGCGGCCGCCGCCGCCGCCGCCTTCTCC       c.240
 Y  N  S  H  L  Q  Y  G  A  D  P  A  A  A  A  A  A  A  F  S         p.80

           | 02        .         .         .         .         .    g.1350
 TCGTACGTG | GGCTCTCCCTACGACCACACACCCGGCATGGCGGGCTCCTTGGGGTACCAT    c.300
 S  Y  V   | G  S  P  Y  D  H  T  P  G  M  A  G  S  L  G  Y  H      p.100

          .         .         .         .         .         .       g.1410
 CCTTACGCGGCGCCCCTGGGATCGTACCCTTACGGGGACCCAGCGTACCGGAAGAACGCC       c.360
 P  Y  A  A  P  L  G  S  Y  P  Y  G  D  P  A  Y  R  K  N  A         p.120

          .         .         .         .         .         .       g.1470
 ACAAGGGACGCCACGGCTACCCTCAAGGCCTGGCTCAACGAGCACCGCAAGAACCCCTAC       c.420
 T  R  D  A  T  A  T  L  K  A  W  L  N  E  H  R  K  N  P  Y         p.140

          .         .         .         .         .         .       g.1530
 CCCACCAAGGGCGAGAAGATCATGCTGGCCATCATCACCAAGATGACCCTCACCCAGGTG       c.480
 P  T  K  G  E  K  I  M  L  A  I  I  T  K  M  T  L  T  Q  V         p.160

          .         .         .         .         .         .       g.1590
 TCCACCTGGTTCGCCAACGCGCGCCGGCGCCTCAAGAAAGAGAATAAAATGACGTGGACG       c.540
 S  T  W  F  A  N  A  R  R  R  L  K  K  E  N  K  M  T  W  T         p.180

          .         .         .         .         .         .       g.1650
 CCGCGGAACCGCAGCGAGGACGAGGAAGAGGAGGAGAACATTGACCTGGAGAAGAACGAC       c.600
 P  R  N  R  S  E  D  E  E  E  E  E  N  I  D  L  E  K  N  D         p.200

          .         .         .         .         .      | 03  .    g.1883
 GAGGACGAGCCCCAGAAGCCCGAGGACAAGGGCGACCCCGAGGGCCCCGAAGCAG | GAGGA    c.660
 E  D  E  P  Q  K  P  E  D  K  G  D  P  E  G  P  E  A  G |   G      p.220

          .         .         .         .         .         .       g.1943
 GCTGAGCAGAAGGCGGCTTCGGGCTGCGAACGGCTTCAGGGACCACCCACCCCTGCAGGC       c.720
 A  E  Q  K  A  A  S  G  C  E  R  L  Q  G  P  P  T  P  A  G         p.240

          .         .         .         .         .         .       g.2003
 AAGGAGACGGAGGGCAGCCTCAGCGACTCGGATTTTAAGGAGCCGCCCTCGGAGGGCCGC       c.780
 K  E  T  E  G  S  L  S  D  S  D  F  K  E  P  P  S  E  G  R         p.260

          .         .         .         .         .         .       g.2063
 CTCGACGCGCTGCAGGGCCCCCCCCGCACCGGCGGGCCCTCCCCGGCTGGGCCAGCGGCG       c.840
 L  D  A  L  Q  G  P  P  R  T  G  G  P  S  P  A  G  P  A  A         p.280

          .         .         .         .         .         .       g.2123
 GCGCGGCTGGCGGAGGACCCGGCCCCTCACTACCCCGCCGGAGCGCCGGCGCCCGGCCCG       c.900
 A  R  L  A  E  D  P  A  P  H  Y  P  A  G  A  P  A  P  G  P         p.300

          .         .         .         .         .         .       g.2183
 CATCCAGCCGCGGGCGAGGTGCCTCCGGGTCCCGGCGGGCCCTCGGTTATCCATTCGCCG       c.960
 H  P  A  A  G  E  V  P  P  G  P  G  G  P  S  V  I  H  S  P         p.320

          .         .         .         .         .         .       g.2243
 CCTCCGCCGCCGCCTCCTGCGGTGCTCGCCAAGCCCAAACTGTGGTCTTTGGCAGAGATC       c.1020
 P  P  P  P  P  P  A  V  L  A  K  P  K  L  W  S  L  A  E  I         p.340

          .         .         .         .         .         .       g.2303
 GCCACATCGTCGGACAAGGTCAAGGACGGGGGCGGCGGGAACGAGGGCTCTCCATGCCCA       c.1080
 A  T  S  S  D  K  V  K  D  G  G  G  G  N  E  G  S  P  C  P         p.360

          .         .         .         .         .         .       g.2363
 CCGTGTCCCGGGCCCATAGCCGGGCAAGCCCTAGGAGGCAGCCGGGCGTCGCCGGCCCCG       c.1140
 P  C  P  G  P  I  A  G  Q  A  L  G  G  S  R  A  S  P  A  P         p.380

          .         .         .         .         .         .       g.2423
 GCGCCGTCACGCTCGCCCTCGGCGCAGTGTCCTTTTCCAGGCGGGACGGTGCTGTCCCGG       c.1200
 A  P  S  R  S  P  S  A  Q  C  P  F  P  G  G  T  V  L  S  R         p.400

          .         .         .         .         .         .       g.2483
 CCTCTCTACTACACCGCGCCCTTCTATCCCGGCTACACGAACTATGGCTCCTTCGGACAC       c.1260
 P  L  Y  Y  T  A  P  F  Y  P  G  Y  T  N  Y  G  S  F  G  H         p.420

          .         .         .         .         .         .       g.2543
 CTTCATGGCCACCCGGGGCCCGGGCCAGGCCCCACAACCGGTCCGGGGTCTCATTTCAAT       c.1320
 L  H  G  H  P  G  P  G  P  G  P  T  T  G  P  G  S  H  F  N         p.440

          .         .         .         .         .         .       g.2603
 GGATTAAACCAGACCGTGTTGAACCGAGCGGACGCTTTGGCTAAAGACCCGAAAATGTTG       c.1380
 G  L  N  Q  T  V  L  N  R  A  D  A  L  A  K  D  P  K  M  L         p.460

          .         .         .         .         .         .       g.2663
 CGGAGCCAGTCTCAGCTAGACCTGTGCAAAGACTCTCCCTATGAATTGAAGAAAGGTATG       c.1440
 R  S  Q  S  Q  L  D  L  C  K  D  S  P  Y  E  L  K  K  G  M         p.480

          .                                                         g.2675
 TCCGACATTTAA                                                       c.1452
 S  D  I  X                                                         p.483

          .         .         .         .         .         .       g.2735
 cgcgggctgcgtcggtcccggacttttctaatttattaaaaacatggccttggcagttat       c.*60

          .         .         .         .         .         .       g.2795
 ttttccatcaccgagagagagagacagagagagaaaataaactacccctcctattcagaa       c.*120

          .         .         .         .         .         .       g.2855
 gtttatagtttatggagatggatgacataaaaatgtaaacatctccacacaaaaaaaaaa       c.*180

          .         .         .         .         .         .       g.2915
 atgtcttaaccaaccgaaaagaaaaattaaaaaaggatttgtattaaatcttattctgta       c.*240

          .         .         .         .         .         .       g.2975
 tatttaatgtagcatttttgtatttaaattgataattcaatatctttgaagtaaattatg       c.*300

          .         .         .         .         .         .       g.3035
 aaatcaagacacctgtacaggcatttaatgtttttttgtaatataaatatatacatttgt       c.*360

          .         .         .         .         .         .       g.3095
 gtttcccccaaaactgtttcatagttaaaaaatacaagtttaatttaattttttacacct       c.*420

          .         .         .         .         .         .       g.3155
 attgattctgctgggtatgagctaaagtattacagaaaggaaacaggttatactcttaga       c.*480

          .         .         .         .         .         .       g.3215
 tttaaaaagtgaaagaaactgcaggcgcctttgtaaaatgcaaaatatttaattaaaaga       c.*540

          .         .         .         .         .         .       g.3275
 gattttaacataatgagagccactcattactttttagaagcctcaataaactgtccattg       c.*600

          .                                                         g.3287
 ccttggtcaaaa                                                       c.*612

 (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 Iroquois homeobox 5 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.