forkhead box E3 (FOXE3) - coding DNA reference sequence

(used for variant description)

(last modified December 2, 2014)

This file was created to facilitate the description of sequence variants on transcript NM_012186.2 in the FOXE3 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_016192.1, covering FOXE3 transcript NM_012186.2.

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

 (upstream sequence)
                                                                    g.5004
                                                         ggga       c.-241

 .         .         .         .         .         .                g.5064
 aggggtgagtctgggtctgggaaaaactgatccaaaggcagaaagggaggggcgaaatgg       c.-181

 .         .         .         .         .         .                g.5124
 aggagggtaccgtgaacagagtaagggggctgggagaggaaattagaggggaggcgctgg       c.-121

 .         .         .         .         .         .                g.5184
 ccagcaggcaaggcctgagccctctcccccggcggtggttgggggggggccgtgtccata       c.-61

 .         .         .         .         .         .                g.5244
 taaagcgggtcggcggcccctgcggtcccggagccgcgcgggcaggggctgccgcagccg       c.-1

          .         .         .         .         .         .       g.5304
 ATGGCGGGGCGCAGCGACATGGATCCGCCCGCCGCGTTCTCTGGCTTCCCTGCCCTGCCA       c.60
 M  A  G  R  S  D  M  D  P  P  A  A  F  S  G  F  P  A  L  P         p.20

          .         .         .         .         .         .       g.5364
 GCGGTCGCGCCGTCGGGGCCGCCGCCGTCGCCGCTCGCAGGAGCCGAGCCAGGGCGGGAG       c.120
 A  V  A  P  S  G  P  P  P  S  P  L  A  G  A  E  P  G  R  E         p.40

          .         .         .         .         .         .       g.5424
 CCAGAGGAGGCGGCGGCTGGCCGCGGAGAGGCGGCCCCCACGCCCGCGCCCGGCCCGGGG       c.180
 P  E  E  A  A  A  G  R  G  E  A  A  P  T  P  A  P  G  P  G         p.60

          .         .         .         .         .         .       g.5484
 CGGCGGCGGCGGCGGCCCCTGCAGCGCGGGAAGCCGCCCTACTCGTACATCGCGCTCATC       c.240
 R  R  R  R  R  P  L  Q  R  G  K  P  P  Y  S  Y  I  A  L  I         p.80

          .         .         .         .         .         .       g.5544
 GCCATGGCTCTGGCGCACGCCCCGGGCCGCCGCCTCACGCTGGCCGCCATCTACCGCTTC       c.300
 A  M  A  L  A  H  A  P  G  R  R  L  T  L  A  A  I  Y  R  F         p.100

          .         .         .         .         .         .       g.5604
 ATCACCGAACGCTTTGCCTTCTACCGCGACAGCCCGCGCAAGTGGCAGAACAGCATCCGC       c.360
 I  T  E  R  F  A  F  Y  R  D  S  P  R  K  W  Q  N  S  I  R         p.120

          .         .         .         .         .         .       g.5664
 CACAATCTCACGCTCAACGACTGCTTCGTCAAGGTGCCCCGCGAGCCGGGCAACCCGGGC       c.420
 H  N  L  T  L  N  D  C  F  V  K  V  P  R  E  P  G  N  P  G         p.140

          .         .         .         .         .         .       g.5724
 AAGGGCAACTACTGGACGCTGGACCCCGCGGCCGCAGACATGTTCGACAACGGCAGCTTC       c.480
 K  G  N  Y  W  T  L  D  P  A  A  A  D  M  F  D  N  G  S  F         p.160

          .         .         .         .         .         .       g.5784
 CTGCGGCGCCGCAAGCGCTTCAAGCGCGCCGAGCTGCCCGCGCACGCGGCCGCGGCGCCA       c.540
 L  R  R  R  K  R  F  K  R  A  E  L  P  A  H  A  A  A  A  P         p.180

          .         .         .         .         .         .       g.5844
 GGGCCGCCGCTCCCCTTCCCCTACGCGCCCTACGCGCCCGCGCCCGGCCCCGCGCTGCTG       c.600
 G  P  P  L  P  F  P  Y  A  P  Y  A  P  A  P  G  P  A  L  L         p.200

          .         .         .         .         .         .       g.5904
 GTGCCGCCGCCTTCTGCCGGACCGGGCCCCTCGCCGCCCGCGCGTCTGTTCAGCGTCGAC       c.660
 V  P  P  P  S  A  G  P  G  P  S  P  P  A  R  L  F  S  V  D         p.220

          .         .         .         .         .         .       g.5964
 AGCCTGGTGAACCTGCAGCCGGAGCTAGCGGGGCTGGGCGCCCCCGAGCCGCCCTGCTGC       c.720
 S  L  V  N  L  Q  P  E  L  A  G  L  G  A  P  E  P  P  C  C         p.240

          .         .         .         .         .         .       g.6024
 GCCGCGCCCGACGCCGCAGCCGCAGCCTTCCCGCCCTGCGCTGCCGCCGCCTCCCCGCCA       c.780
 A  A  P  D  A  A  A  A  A  F  P  P  C  A  A  A  A  S  P  P         p.260

          .         .         .         .         .         .       g.6084
 CTCTACTCGCAGGTCCCCGACCGCCTGGTACTGCCCGCGACGCGCCCCGGCCCCGGCCCG       c.840
 L  Y  S  Q  V  P  D  R  L  V  L  P  A  T  R  P  G  P  G  P         p.280

          .         .         .         .         .         .       g.6144
 CTGCCCGCTGAGCCCCTCCTGGCCTTGGCCGGGCCGGCAGCCGCTCTCGGCCCGCTCAGC       c.900
 L  P  A  E  P  L  L  A  L  A  G  P  A  A  A  L  G  P  L  S         p.300

          .         .         .         .         .         .       g.6204
 CCTGGGGAGGCCTACCTGAGGCAGCCGGGCTTCGCGTCGGGGCTGGAGCGCTACCTGTGA       c.960
 P  G  E  A  Y  L  R  Q  P  G  F  A  S  G  L  E  R  Y  L  X         p.319

          .         .         .         .         .         .       g.6264
 gcctgcgccgcgcgggcaggcacctgtgcgacctgtgccccggacctgcggcgccgccct       c.*60

          .         .         .         .         .         .       g.6324
 cgagcgccccatctctaccccccaccctggcttggagcacaccctgcgcctctcgtcgtg       c.*120

          .         .         .         .         .         .       g.6384
 gcctcctggactcaaactcctgctacatccttctccgtcccccatccctggggaggctcc       c.*180

          .         .         .         .         .         .       g.6444
 caccatctcgccactggacagaagcgtcccctttgacctgccagcctctcatttcttctc       c.*240

          .         .         .         .         .         .       g.6504
 cctccacttgtgagcgcccccagctttgcggcgccccccaccccagcgctgtctgtgggt       c.*300

          .         .         .         .         .         .       g.6564
 cccttgccccggagctgactcgcctccagtgagtccataccccaggtttcctggtgagtt       c.*360

          .         .         .         .         .         .       g.6624
 ccaagcctttggaagccagatctgtgatcccaagccgcctcctccaccgactgtacttca       c.*420

          .         .         .         .         .         .       g.6684
 tcaaccttctctcatgtttttccgacactcctgggtcagactcctgggttcatgacttac       c.*480

          .         .         .         .         .         .       g.6744
 ttgctagcgtcccttcattttcccacaagtttgccccccacctccacttacctgtctgcc       c.*540

          .         .         .         .         .         .       g.6804
 ctcagcttcttcctgggagagagcccccctttcacgtagacacacctggctgccttcttc       c.*600

          .         .         .         .         .         .       g.6864
 acgccctgaggacacttcttggagatttcagacaggcagcaccagggctcctgactgaaa       c.*660

          .         .         .         .         .         .       g.6924
 ggggagttggtgggcctttaggtctgccccatcccctggaaaacttaggacttattgggt       c.*720

          .         .         .         .         .                 g.6981
 tattattatttttaattaaagctggtttaattaaaaagaaagaaacttttttctgga          c.*777

 (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 Forkhead box E3 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.