regulatory factor X-associated protein (RFXAP) - coding DNA reference sequence

(used for mutation description)

(last modified April 30, 2014)

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

The sequence was taken from NC_000013.10, covering RFXAP transcript NM_000538.3.

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

 (upstream sequence)
                               .         .         .                g.1036
                         cgcgcaggctgcggtcgcgcaggcgcagtcggggcg       c.-121

 .         .         .         .         .         .                g.1096
 ccttcccggtataggcgccttttaccccagcgtgtcctgagtctttggttcgcgaagtgc       c.-61

 .         .         .         .         .         .                g.1156
 cgttaggccaagcaggtgctaaaagcccggggtcgtggaccccggccaggtcttagcagc       c.-1

          .         .         .         .         .         .       g.1216
 ATGGAGGCGCAGGGTGTAGCGGAGGGCGCGGGGCCGGGCGCCGCCAGCGGCGTGCCCCAC       c.60
 M  E  A  Q  G  V  A  E  G  A  G  P  G  A  A  S  G  V  P  H         p.20

          .         .         .         .         .         .       g.1276
 CCCGCGGCCCTAGCCCCGGCTGCGGCTCCCACCTTGGCGCCAGCCTCGGTGGCGGCCGCG       c.120
 P  A  A  L  A  P  A  A  A  P  T  L  A  P  A  S  V  A  A  A         p.40

          .         .         .         .         .         .       g.1336
 GCCTCTCAATTCACCCTGCTAGTGATGCAACCCTGTGCTGGGCAGGACGAGGCTGCGGCC       c.180
 A  S  Q  F  T  L  L  V  M  Q  P  C  A  G  Q  D  E  A  A  A         p.60

          .         .         .         .         .         .       g.1396
 CCCGGGGGCAGCGTTGGGGCGGGCAAGCCCGTTAGGTACCTGTGCGAAGGGGCCGGGGAT       c.240
 P  G  G  S  V  G  A  G  K  P  V  R  Y  L  C  E  G  A  G  D         p.80

          .         .         .         .         .         .       g.1456
 GGCGAAGAGGAGGCTGGGGAGGACGAGGCGGACCTGTTAGACACTTCGGACCCTCCGGGG       c.300
 G  E  E  E  A  G  E  D  E  A  D  L  L  D  T  S  D  P  P  G         p.100

          .         .         .         .         .         .       g.1516
 GGAGGCGAGAGCGCGGCTAGTTTGGAGGATCTAGAGGACGAGGAGACTCACTCGGGGGGC       c.360
 G  G  E  S  A  A  S  L  E  D  L  E  D  E  E  T  H  S  G  G         p.120

          .         .         .         .         .         .       g.1576
 GAGGGCAGCAGCGGGGGCGCCCGGAGGCGGGGCAGCGGTGGGGGCAGCATGAGCAAGACC       c.420
 E  G  S  S  G  G  A  R  R  R  G  S  G  G  G  S  M  S  K  T         p.140

          .         .         .         .         .         .       g.1636
 TGCACCTACGAAGGCTGCAGCGAGACCACGAGCCAGGTGGCCAAGCAGCGCAAACCGTGG       c.480
 C  T  Y  E  G  C  S  E  T  T  S  Q  V  A  K  Q  R  K  P  W         p.160

          .         .         .         .         .         .       g.1696
 ATGTGCAAGAAACACCGCAACAAGATGTACAAGGACAAGTATAAAAAGAAGAAGAGCGAC       c.540
 M  C  K  K  H  R  N  K  M  Y  K  D  K  Y  K  K  K  K  S  D         p.180

          .         .         .         .         .         .       g.1756
 CAGGCCCTGAACTGCGGTGGGACTGCCTCGACTGGCAGCGCGGGAAACGTCAAACTCGAG       c.600
 Q  A  L  N  C  G  G  T  A  S  T  G  S  A  G  N  V  K  L  E         p.200

  | 02       .         .         .         .         .         .    g.7286
  | GAAAGTGCAGATAACATACTCTCCATTGTTAAACAAAGAACAGGATCTTTTGGGGATCGT    c.660
  | E  S  A  D  N  I  L  S  I  V  K  Q  R  T  G  S  F  G  D  R      p.220

          .         .         .         .         | 03         .    g.9453
 CCTGCAAGACCTACTCTTTTAGAACAAGTGTTAAATCAAAAAAGACTG | TCGTTACTAAGA    c.720
 P  A  R  P  T  L  L  E  Q  V  L  N  Q  K  R  L   | S  L  L  R      p.240

          .         .         .         .         .         .       g.9513
 AGTCCAGAAGTAGTGCAATTTTTACAGAAACAGCAACAGCTATTAAATCAGCAAGTTTTG       c.780
 S  P  E  V  V  Q  F  L  Q  K  Q  Q  Q  L  L  N  Q  Q  V  L         p.260

          .         .         .                                     g.9552
 GAGCAAAGACAACAGCAGTTTCCAGGAACATCAATGTGA                            c.819
 E  Q  R  Q  Q  Q  F  P  G  T  S  M  X                              p.272

          .         .         .         .         .         .       g.9612
 gggaacttaccaagaacatctacatggttttttatcttattgtaatagatgagcatattt       c.*60

          .         .         .         .         .         .       g.9672
 ttttaccagacataaatggggtaataatctatgcctgtagaacataaacattttcctgta       c.*120

          .         .         .         .         .         .       g.9732
 aatgtatgtgtgcatttggggataagtaagtattgcactttgtgcatctaatctttcaga       c.*180

          .         .         .         .         .         .       g.9792
 ttactgtgagtttgaagaagtcagcttatctttccaaataacatttaattataatgtttt       c.*240

          .         .         .         .         .         .       g.9852
 ttaaaaaatatattcctcttcagtcattgttactgaaggtaatgaagcagttactttctg       c.*300

          .         .         .         .         .         .       g.9912
 tggaagtcataaagttaatagatattaatcttgactcatctagctcagtggttctcatca       c.*360

          .         .         .         .         .         .       g.9972
 agggtcaatttgattgtcatagtgaccttgaaaaccactggcttttagtgagtggccagg       c.*420

          .         .         .         .         .         .       g.10032
 aatgctaaatgttctgcagtgtcaggggtagtcccacatactaaagattgtctcacccgc       c.*480

          .         .         .         .         .         .       g.10092
 agtgccaataacactcctaagaaatgttgatggctattttgtggtgctaacatgtagttg       c.*540

          .         .         .         .         .         .       g.10152
 gggcacctataattgggttctcttaataacctttctttgcagttaagactgaagctgtca       c.*600

          .         .         .         .         .         .       g.10212
 aagaggtaagcacattttatatagacgtaaggaaagtgattattgtttaatatctgtgaa       c.*660

          .         .         .         .         .         .       g.10272
 tttaggatgtgcatctcttttcagaggtgtgttagtaaaacctgacggattaactaagca       c.*720

          .         .         .         .         .         .       g.10332
 cactgggatgtgtctcctacagttggcttctctctttgatgttacctgttagtgctgatc       c.*780

          .         .         .         .         .         .       g.10392
 tcttaaagcagacatttcttgtttgttgaatttgtgaacagtatagatctcagcccacca       c.*840

          .         .         .         .         .         .       g.10452
 atgccaagacaaaattatttttcttatacttattttttattaaacaaaatgaaaaagatc       c.*900

          .         .         .         .         .         .       g.10512
 cttttcaaaaaggtgatcctgaaaataaaactaacactccagtattttgtcattgttttt       c.*960

          .         .         .         .         .         .       g.10572
 cgcaattgagctatctgaaaactgttattcctaagtaatgttcaaaaatgataagtaatc       c.*1020

          .         .         .         .         .         .       g.10632
 tggatacctttttcttatactttctcctaggaaaactttaaaactttaaaaaggcaaacc       c.*1080

          .         .         .         .         .         .       g.10692
 taccaataggaataacaaattaaatgtcaagagagtatatccaatattaggatataaatg       c.*1140

          .         .         .         .         .         .       g.10752
 tatgtgtctcaagtttaactctacaaaaatttgttacttgttttttaaactctatatata       c.*1200

          .         .         .         .         .         .       g.10812
 aagttcgacttaatcatggctgttctaagaagtacttatggagagcaagaacgtttttgt       c.*1260

          .         .         .         .         .         .       g.10872
 tcatttcttaatgtgtgtgtttttacttgcatatctgttcaaaacacttttaacaaaatt       c.*1320

          .         .         .         .         .         .       g.10932
 aattcattaaagtccagttgttgacctttgagttagctgatttctttattctgttcttta       c.*1380

          .         .         .         .         .         .       g.10992
 gtttattcttactagatgcagaggaattcatctactgtctgttattaactgttagtttat       c.*1440

          .         .         .         .         .         .       g.11052
 tctcatacttacgatgttgagagtttttttgaagcttaagttaccctttatggtggaaaa       c.*1500

          .         .         .         .         .         .       g.11112
 cattagcttatgcttctttagatggaataatgggaaaggagggaaatgggaaatggatgg       c.*1560

          .         .         .         .         .         .       g.11172
 aaatgggaaaggagggaaaataatagcccagtgagagctgaatgaaaagggactgaattt       c.*1620

          .         .         .         .         .         .       g.11232
 aaatatttgtaagaactttgtgatgatgagtaattgtcagacgtgggatagataactgag       c.*1680

          .         .         .         .         .         .       g.11292
 aggctcagaatctttaccaaggatattttttaggataaggtagctgcctgttcatgaatt       c.*1740

          .         .         .         .         .         .       g.11352
 tggataagaatagtaggacaatattcaacacaatttaatttttgtctgccacattagaca       c.*1800

          .         .         .         .         .                 g.11402
 tttttttaccttataaaatgatcaataaagcaataaggtttattttgggt                 c.*1850

 (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 Regulatory factor X-associated protein 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.