nuclear receptor subfamily 2, group F, member 1 (NR2F1) - coding DNA reference sequence

(used for variant description)

(last modified June 16, 2015)


This file was created to facilitate the description of sequence variants on transcript NM_005654.4 in the NR2F1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000005.9, covering NR2F1 transcript NM_005654.4.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                                    g.5007
                                                      cctcttt       c.-1681

 .         .         .         .         .         .                g.5067
 ctcccccctctctccctcctctcctctctctctcctctcttctctgaacctctcttctct       c.-1621

 .         .         .         .         .         .                g.5127
 ttctcttttcttacatattctactagttgttttccccttcttcttctcctttctctcctt       c.-1561

 .         .         .         .         .         .                g.5187
 tttctccctcctccttgtctcttttactccattcctgcagaagagagagggctaaactta       c.-1501

 .         .         .         .         .         .                g.5247
 aagaaaaaaaaaaggaggaggaggaggaggaggcacccccttcgtattcttcttatcgtt       c.-1441

 .         .         .         .         .         .                g.5307
 attttatacatatatgattttttttggagggagggtgttggttgccggctgaagagcact       c.-1381

 .         .         .         .         .         .                g.5367
 tatttaaaatactaaaaaaagaacatttttgggcgatctccagggtttttttaactagct       c.-1321

 .         .         .         .         .         .                g.5427
 ctgtgtgttatagcagaagaagcagaagaaggagcaagaaagaggaaaagaagaggatta       c.-1261

 .         .         .         .         .         .                g.5487
 tttattcgacctactttggatgtctctctcgcttttcctttttcctttttttggcaatta       c.-1201

 .         .         .         .         .         .                g.5547
 ttttcttctgatttttattttttctatttcgctgtgatttcgtcgccggcgtgaattatc       c.-1141

 .         .         .         .         .         .                g.5607
 ccgtatttttctcccccttccgtcacctcccgaaagaagaaggcagcgagagcccggcgc       c.-1081

 .         .         .         .         .         .                g.5667
 caccggcacaacaaaaagagcaaagtgtgtgatcttcctcgccggctgcctcccgctctc       c.-1021

 .         .         .         .         .         .                g.5727
 cagcgctgccttcctgaatggctggctgcgtccggccctggacctggccccccgacaccc       c.-961

 .         .         .         .         .         .                g.5787
 gcgcgccctgatcgccggcggcagcctcgcccagcgccctgctcggctcaccgcgctccc       c.-901

 .         .         .         .         .         .                g.5847
 cgcactcccgagcccggcgagggctcccgccgggacagcggcggcgccgcgggcggcccc       c.-841

 .         .         .         .         .         .                g.5907
 ggcctccgctcgcgctccggctgcggccccgactcctgctcggactccggcccgggtccc       c.-781

 .         .         .         .         .         .                g.5967
 ggctcctccagcggcgctcgccgcagcagctccggcggcagctccagcggcgcctgcagc       c.-721

 .         .         .         .         .         .                g.6027
 cgcgacctcctcctcctccgccgccgccgccgcctccgccctcgccggcttcctctatgt       c.-661

 .         .         .         .         .         .                g.6087
 cggctcagcccgcgcgctgcgcgtagcccgagcggccggcgggcgggcgcccggcgcggg       c.-601

 .         .         .         .         .         .                g.6147
 tgagcgactgtgtgtgcgagtgtgtgtgtgcgcgggggtgcgggcgaggcggagggcgag       c.-541

 .         .         .         .         .         .                g.6207
 tgtgtgcgcgcgccgtggcccatgcccgccgcccccggcgctgcgccccgcgccgctccc       c.-481

 .         .         .         .         .         .                g.6267
 ggctgccgcctgtgccatttctgattttgcaacttggggaagaagaaaaaagcgagagaa       c.-421

 .         .         .         .         .         .                g.6327
 gggagcttgctcgccggggggtggggaggggggaaggagagcgcggcccccccaggaacg       c.-361

 .         .         .         .         .         .                g.6387
 gagcgcggggggagcgggcgaggggagcaggggtgttggggggggagcctgagagcctgg       c.-301

 .         .         .         .         .         .                g.6447
 gggggctgcaaaaagagagaaagaaaacagcaggaaccacaacaaaacgccagcagggcg       c.-241

 .         .         .         .         .         .                g.6507
 ggcgggcgcgcagcagcagcggggcggccgaggcagtagcggcggcagcggcggcggcgg       c.-181

 .         .         .         .         .         .                g.6567
 cggaggcagcggccggtgtccggctcgggctcggctcctgcgaccccggggcgcccggcg       c.-121

 .         .         .         .         .         .                g.6627
 ggccccccgccccctccccctccccccttccccttccccttcccctcccagcgcgcccgc       c.-61

 .         .         .         .         .         .                g.6687
 gcgccccgcggccctcggcgagcagctcggctccccccagcgctccccgggcccaaagat       c.-1

          .         .         .         .         .         .       g.6747
 ATGGCAATGGTAGTTAGCAGCTGGCGAGATCCGCAGGACGACGTGGCCGGGGGCAACCCC       c.60
 M  A  M  V  V  S  S  W  R  D  P  Q  D  D  V  A  G  G  N  P         p.20

          .         .         .         .         .         .       g.6807
 GGCGGCCCCAACCCCGCAGCGCAGGCGGCCCGCGGCGGCGGCGGCGGCGCCGGCGAGCAG       c.120
 G  G  P  N  P  A  A  Q  A  A  R  G  G  G  G  G  A  G  E  Q         p.40

          .         .         .         .         .         .       g.6867
 CAGCAGCAGGCGGGCTCGGGCGCGCCGCACACGCCGCAGACCCCGGGCCAGCCCGGAGCG       c.180
 Q  Q  Q  A  G  S  G  A  P  H  T  P  Q  T  P  G  Q  P  G  A         p.60

          .         .         .         .         .         .       g.6927
 CCCGCCACCCCCGGCACGGCGGGGGACAAGGGCCAGGGCCCGCCCGGTTCGGGCCAGAGC       c.240
 P  A  T  P  G  T  A  G  D  K  G  Q  G  P  P  G  S  G  Q  S         p.80

          .         .         .         .         .         .       g.6987
 CAGCAGCACATCGAGTGCGTGGTGTGCGGGGACAAGTCGAGCGGCAAGCACTACGGCCAA       c.300
 Q  Q  H  I  E  C  V  V  C  G  D  K  S  S  G  K  H  Y  G  Q         p.100

          .         .         .         .         .         .       g.7047
 TTCACCTGCGAGGGCTGCAAAAGTTTCTTCAAGAGGAGCGTCCGCAGGAACTTAACTTAC       c.360
 F  T  C  E  G  C  K  S  F  F  K  R  S  V  R  R  N  L  T  Y         p.120

          .         .         .         .         .         .       g.7107
 ACATGCCGTGCCAACAGGAACTGTCCCATCGACCAGCACCACCGCAACCAGTGCCAATAC       c.420
 T  C  R  A  N  R  N  C  P  I  D  Q  H  H  R  N  Q  C  Q  Y         p.140

          .         .         .         .    | 02    .         .    g.9597
 TGCCGCCTCAAGAAGTGCCTCAAAGTGGGCATGAGGCGGGAAG | CGGTTCAGCGAGGAAGA    c.480
 C  R  L  K  K  C  L  K  V  G  M  R  R  E  A |   V  Q  R  G  R      p.160

          .         .         .         .         .         .       g.9657
 ATGCCTCCAACCCAGCCCAATCCAGGCCAGTACGCACTCACCAACGGGGACCCCCTCAAC       c.540
 M  P  P  T  Q  P  N  P  G  Q  Y  A  L  T  N  G  D  P  L  N         p.180

          .         .         .         .         .         .       g.9717
 GGCCACTGCTACCTGTCCGGCTACATCTCGCTGCTGCTGCGCGCCGAGCCCTACCCCACG       c.600
 G  H  C  Y  L  S  G  Y  I  S  L  L  L  R  A  E  P  Y  P  T         p.200

          .         .         .         .         .         .       g.9777
 TCGCGCTACGGCAGCCAGTGCATGCAGCCCAACAACATTATGGGCATCGAGAACATCTGC       c.660
 S  R  Y  G  S  Q  C  M  Q  P  N  N  I  M  G  I  E  N  I  C         p.220

          .         .         .         .         .         .       g.9837
 GAGCTGGCCGCGCGCCTGCTCTTCAGCGCCGTCGAGTGGGCCCGCAACATCCCCTTCTTC       c.720
 E  L  A  A  R  L  L  F  S  A  V  E  W  A  R  N  I  P  F  F         p.240

          .         .         .         .         .         .       g.9897
 CCGGATCTGCAGATCACCGACCAGGTGTCCCTGCTACGCCTCACCTGGAGCGAGCTGTTC       c.780
 P  D  L  Q  I  T  D  Q  V  S  L  L  R  L  T  W  S  E  L  F         p.260

          .         .         .         .         .         .       g.9957
 GTGCTCAACGCGGCCCAGTGCTCTATGCCGCTGCACGTGGCGCCGTTGCTGGCCGCCGCC       c.840
 V  L  N  A  A  Q  C  S  M  P  L  H  V  A  P  L  L  A  A  A         p.280

          .         .         .         .         .         .       g.10017
 GGCCTGCATGCCTCGCCCATGTCTGCCGACCGCGTCGTGGCCTTCATGGACCACATCCGC       c.900
 G  L  H  A  S  P  M  S  A  D  R  V  V  A  F  M  D  H  I  R         p.300

          .         .         .         .         .         .       g.10077
 ATCTTCCAGGAGCAGGTGGAGAAGCTCAAGGCGCTACACGTCGACTCAGCCGAGTACAGC       c.960
 I  F  Q  E  Q  V  E  K  L  K  A  L  H  V  D  S  A  E  Y  S         p.320

          .         .         .  | 03      .         .         .    g.15254
 TGCCTCAAAGCCATCGTGCTGTTCACGTCAG | ACGCCTGTGGCCTGTCGGATGCGGCCCAC    c.1020
 C  L  K  A  I  V  L  F  T  S  D |   A  C  G  L  S  D  A  A  H      p.340

          .         .         .         .         .         .       g.15314
 ATCGAGAGCCTGCAGGAGAAGTCGCAGTGCGCACTGGAGGAGTACGTGAGGAGCCAGTAC       c.1080
 I  E  S  L  Q  E  K  S  Q  C  A  L  E  E  Y  V  R  S  Q  Y         p.360

          .         .         .         .         .         .       g.15374
 CCCAACCAGCCCAGCCGTTTTGGCAAACTGCTGCTGCGACTGCCCTCGCTGCGCACCGTG       c.1140
 P  N  Q  P  S  R  F  G  K  L  L  L  R  L  P  S  L  R  T  V         p.380

          .         .         .         .         .         .       g.15434
 TCCTCCTCCGTCATCGAGCAGCTCTTCTTCGTCCGTTTGGTAGGTAAAACCCCCATCGAA       c.1200
 S  S  S  V  I  E  Q  L  F  F  V  R  L  V  G  K  T  P  I  E         p.400

          .         .         .         .         .         .       g.15494
 ACTCTCATCCGCGATATGTTACTGTCTGGGAGCAGCTTCAACTGGCCTTACATGTCCATC       c.1260
 T  L  I  R  D  M  L  L  S  G  S  S  F  N  W  P  Y  M  S  I         p.420

          .                                                         g.15506
 CAGTGCTCCTAG                                                       c.1272
 Q  C  S  X                                                         p.423

          .         .         .         .         .         .       g.15566
 accttgggcgcttcccacctgccccgtccccctagagactcagaggacccacctgggcca       c.*60

          .         .         .         .         .         .       g.15626
 aggactccaaagccgcggggacaccgggaagtgcagcgggccaggcaggctgggtgggag       c.*120

          .         .         .         .         .         .       g.15686
 ggaggagggccgagacaggagcagcccacccagcagaaatacaatccgagctacaaagca       c.*180

          .         .         .         .         .         .       g.15746
 tgggaaaaagagactcttttaggatcagatctgtgagcacgttggcgaggaaaaacaaaa       c.*240

 

 (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 10th nucleotide is indicated by a "." above the sequence. The Nuclear receptor subfamily 2, group F, member 1 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th 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.

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