PC4 and SFRS1 interacting protein 1 (PSIP1) - coding DNA reference sequence

(used for mutation description)

(last modified September 8, 2014)


This file was created to facilitate the description of sequence variants in the PSIP1 gene based on a coding DNA reference sequence following the HGVS recommendations.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                         .         .                g.1027
                                  cagtgctagcgggcgccgagcgggagc       c.-301

 .         .         .         .         .         .                g.1087
 cgcgcgggagcagcgcagctacggcggcggcagcggcggcgcggttgcgattccgagccg       c.-241

 .         .         .         .         .         .                g.1147
 ttgagacgcctctgcggcagctggtggcgcaggtggcttgcgtggacgcgggtagaggcg       c.-181

 .         .         .         .         .  | 02      .             g.1697
 accggccagcaaccgcagcgtcggcgcccgcggccccggcag | gcgcgtcgggacgccccg    c.-121

 .         .         .         .         .         .                g.1757
 aggcatcctcccccgcccgcgggcccggtagctgggcccgcgtccgccgcccgcatcccc       c.-61

 .         .         .         .         .         .                g.1817
 gcgccgccgcatctcctcgccgcctcccgggcttcggacccccggtctcgcccccgaaac       c.-1

          .         .         .         .         .         .       g.1877
 ATGACTCGCGATTTCAAACCTGGAGACCTCATCTTCGCCAAGATGAAAGGTTATCCCCAT       c.60
 M  T  R  D  F  K  P  G  D  L  I  F  A  K  M  K  G  Y  P  H         p.20

          .   | 03     .         .         .         .         .    g.5416
 TGGCCAGCTCGA | GTAGACGAAGTTCCTGATGGAGCTGTAAAGCCACCCACAAACAAACTA    c.120
 W  P  A  R   | V  D  E  V  P  D  G  A  V  K  P  P  T  N  K  L      p.40

          .         .          | 04        .         .         .    g.21912
 CCCATTTTCTTTTTTGGAACTCATGAGAC | TGCTTTTTTAGGACCAAAGGATATATTTCCT    c.180
 P  I  F  F  F  G  T  H  E  T  |  A  F  L  G  P  K  D  I  F  P      p.60

          .         .         .         .         .         .       g.21972
 TACTCAGAAAATAAGGAAAAGTATGGCAAACCAAATAAAAGAAAAGGTTTTAATGAAGGT       c.240
 Y  S  E  N  K  E  K  Y  G  K  P  N  K  R  K  G  F  N  E  G         p.80

          .         .         .         .         | 05         .    g.25086
 TTATGGGAGATAGATAACAATCCAAAAGTGAAATTTTCAAGTCAACAG | GCAGCAACTAAA    c.300
 L  W  E  I  D  N  N  P  K  V  K  F  S  S  Q  Q   | A  A  T  K      p.100

          .         .         .         .         .         .       g.25146
 CAATCAAATGCATCATCTGATGTTGAAGTTGAAGAAAAGGAAACTAGTGTTTCAAAGGAA       c.360
 Q  S  N  A  S  S  D  V  E  V  E  E  K  E  T  S  V  S  K  E         p.120

          .         .         .    | 06    .         .         .    g.25964
 GATACCGACCATGAAGAAAAAGCCAGCAATGAG | GATGTGACTAAAGCAGTTGACATAACT    c.420
 D  T  D  H  E  E  K  A  S  N  E   | D  V  T  K  A  V  D  I  T      p.140

          .         .         .       | 07 .         .         .    g.32342
 ACTCCAAAAGCTGCCAGAAGGGGGAGAAAGAGAAAG | GCAGAAAAACAAGTAGAAACTGAG    c.480
 T  P  K  A  A  R  R  G  R  K  R  K   | A  E  K  Q  V  E  T  E      p.160

          .         .         .         .         .         .       g.32402
 GAGGCAGGAGTAGTGACAACAGCAACAGCATCTGTTAATCTAAAAGTGAGTCCTAAAAGA       c.540
 E  A  G  V  V  T  T  A  T  A  S  V  N  L  K  V  S  P  K  R         p.180

          .    | 08    .         .         .         .         .    g.33500
 GGACGACCTGCAG | CTACAGAAGTCAAGATTCCAAAACCAAGAGGCAGACCCAAAATGGTA    c.600
 G  R  P  A  A |   T  E  V  K  I  P  K  P  R  G  R  P  K  M  V      p.200

          .         .          | 09        .         .         .    g.37799
 AAACAGCCCTGTCCTTCAGAGAGTGACAT | CATTACTGAAGAGGACAAAAGTAAGAAAAAG    c.660
 K  Q  P  C  P  S  E  S  D  I  |  I  T  E  E  D  K  S  K  K  K      p.220

          .         .         .         .         .         .       g.37859
 GGGCAAGAGGAAAAACAACCTAAAAAGCAGCCTAAGAAGGATGAAGAGGGCCAGAAGGAA       c.720
 G  Q  E  E  K  Q  P  K  K  Q  P  K  K  D  E  E  G  Q  K  E         p.240

          .         .         .         .         .         .       g.37919
 GAAGATAAGCCAAGAAAAGAGCCGGATAAAAAAGAGGGGAAGAAAGAAGTTGAATCAAAA       c.780
 E  D  K  P  R  K  E  P  D  K  K  E  G  K  K  E  V  E  S  K         p.260

          .         .         .         .         .         .       g.37979
 AGGAAAAATTTAGCTAAAACAGGGGTTACTTCAACCTCCGATTCTGAAGAAGAAGGAGAT       c.840
 R  K  N  L  A  K  T  G  V  T  S  T  S  D  S  E  E  E  G  D         p.280

          .         | 10         .         .         .         .    g.39297
 GATCAAGAAGGTGAAAAG | AAGAGAAAAGGTGGGAGGAACTTTCAGACTGCTCACAGAAGG    c.900
 D  Q  E  G  E  K   | K  R  K  G  G  R  N  F  Q  T  A  H  R  R      p.300

          .         .         .         .         .         .       g.39357
 AATATGCTGAAAGGCCAACATGAGAAAGAAGCAGCAGATCGAAAACGCAAGCAAGAGGAA       c.960
 N  M  L  K  G  Q  H  E  K  E  A  A  D  R  K  R  K  Q  E  E         p.320

          .        | 11.         .         .         .         .    g.42055
 CAAATGGAAACTGAGCA | GCAGAATAAAGATGAAGGAAAGAAGCCAGAAGTTAAGAAAGTG    c.1020
 Q  M  E  T  E  Q  |  Q  N  K  D  E  G  K  K  P  E  V  K  K  V      p.340

          .    | 12    .         .         .         .         .    g.42716
 GAGAAGAAGCGAG | AAACATCAATGGATTCTCGACTTCAAAGGATACATGCTGAGATTAAA    c.1080
 E  K  K  R  E |   T  S  M  D  S  R  L  Q  R  I  H  A  E  I  K      p.360

          .         .     | 13   .         .         .         .    g.42983
 AATTCACTCAAAATTGATAATCTT | GATGTGAACAGATGCATTGAGGCCTTGGATGAACTT    c.1140
 N  S  L  K  I  D  N  L   | D  V  N  R  C  I  E  A  L  D  E  L      p.380

          .         .         .         .         .         .       g.43043
 GCTTCACTTCAGGTCACAATGCAACAAGCTCAGAAACACACAGAGATGATTACTACACTG       c.1200
 A  S  L  Q  V  T  M  Q  Q  A  Q  K  H  T  E  M  I  T  T  L         p.400

        | 14 .         .         .         .         .         .    g.43216
 AAAAAA | ATACGGCGATTCAAAGTTAGTCAGGTAATCATGGAAAAGTCTACAATGTTGTAT    c.1260
 K  K   | I  R  R  F  K  V  S  Q  V  I  M  E  K  S  T  M  L  Y      p.420

          .         .         .         .         .         .       g.43276
 AACAAGTTTAAGAACATGTTCTTGGTTGGTGAAGGAGATTCCGTGATCACCCAAGTGCTG       c.1320
 N  K  F  K  N  M  F  L  V  G  E  G  D  S  V  I  T  Q  V  L         p.440

          .         .         .         .         .         .       g.43336
 AATAAATCTCTTGCTGAACAAAGACAGCATGAGGAAGCGAATAAAACCAAAGATCAAGGG       c.1380
 N  K  S  L  A  E  Q  R  Q  H  E  E  A  N  K  T  K  D  Q  G         p.460

          .         .         .         . | 15       .         .    g.45166
 AAGAAAGGGCCAAACAAAAAGCTAGAGAAGGAACAAACAG | GGTCAAAGACTCTAAATGGA    c.1440
 K  K  G  P  N  K  K  L  E  K  E  Q  T  G |   S  K  T  L  N  G      p.480

          .         .         .         .         .         .       g.45226
 GGATCTGATGCTCAAGATGGTAATCAGCCACAACATAACGGGGAGAGCAATGAAGACAGC       c.1500
 G  S  D  A  Q  D  G  N  Q  P  Q  H  N  G  E  S  N  E  D  S         p.500

          .         .         .   | 16     .         .         .    g.46453
 AAAGACAACCATGAAGCCAGCACGAAGAAAAA | GCCATCCAGTGAAGAGAGAGAGACTGAA    c.1560
 K  D  N  H  E  A  S  T  K  K  K  |  P  S  S  E  E  R  E  T  E      p.520

          .         .         .                                     g.46486
 ATATCTCTGAAGGATTCTACACTAGATAACTAG                                  c.1593
 I  S  L  K  D  S  T  L  D  N  X                                    p.530

          .         .         .         .         .         .       g.46546
 gttgacatacctggaatatagagaacacttgagaagtttgtaatggttttcatttgaaat       c.*60

          .         .         .         .         .         .       g.46606
 agactgctgaaagttttaaatttttataagcataggtttgatgttgaaaacttgttttga       c.*120

          .         .         .         .         .         .       g.46666
 gggagaaaatccctttgttttaaagtaaagtaaacattatcgctaagtgtacttgtgcag       c.*180

          .         .         .         .         .         .       g.46726
 tattaacagctacattatacagtaaatgtgggataaaatccatttagaaaatgttaaact       c.*240

          .         .         .         .         .         .       g.46786
 gcttttccagacatggttgtagcatattttcaattagtgtgtgtatgttaatgtgtaatt       c.*300

          .         .         .         .         .         .       g.46846
 gatagtagaacaaagttacatttttaaaactgctacttgtataaaccttgcctcttttcc       c.*360

          .         .         .         .         .         .       g.46906
 caaatactgtgggttttgtgcatagtttttacaaaccttggatttaccagactgtctttt       c.*420

          .         .         .         .         .         .       g.46966
 cactgtttgtgggttttgtagaagttacacatttttatggtagataaaatgttacttcta       c.*480

          .         .         .         .         .         .       g.47026
 tacaagtactcactccctttttatcaaaagttaattttaatctcacagtctacattgtgc       c.*540

          .         .         .         .         .         .       g.47086
 tacattatccagcttctttggaacaatgtgtgctctgtatggttttttttggtatgacaa       c.*600

          .         .         .         .         .         .       g.47146
 ctaattaagcaactgacatggaactgagaattctacaaactataaaacattaatttttga       c.*660

          .         .         .         .         .         .       g.47206
 aggtaatttagttttgtggctgggcattcagtgaagtcttaggacttctttgcagacaac       c.*720

          .         .         .         .         .         .       g.47266
 tgactgggtatatataggaatgaatctggctttagggttaaatcatttaaggtcctttta       c.*780

          .         .         .         .         .         .       g.47326
 taggcaggcactagtaactaaaactgaaaactaagtaagtttatttttgaggaatgttgt       c.*840

          .         .         .         .         .         .       g.47386
 taaaaatgtctttaggaagtcactaaaacttaattggaagaaaaaatcatgatgcttata       c.*900

          .         .         .         .         .         .       g.47446
 caataaatatgaataaatgttatataaggaaactcacctatttgaaatcatggctatatt       c.*960

          .         .         .         .         .         .       g.47506
 gtttttattttctagattccaaaaatacaaacactagttgttccagcattgtactttgat       c.*1020

          .         .         .         .         .         .       g.47566
 aagtctgtacattgacgtgtatggactaaatccagggtaaaatcaatgttacaaaattta       c.*1080

          .         .         .         .         .         .       g.47626
 agggtatgttaactaaaggatagcatttctaagatattttgaatattagggtcatttggc       c.*1140

          .         .         .         .         .         .       g.47686
 acttctcagcaagtaggatacttctcatgttttgaaattatatgaatatggaaaaaaatg       c.*1200

          .         .         .         .         .         .       g.47746
 gcttaagaccagcgtctctgtatgacattgtgtggttgaccctctgagataactgttttc       c.*1260

          .         .         .         .         .         .       g.47806
 atctacagaattgcatttttgcttttaaagaggtcttataatggaactaggaatcaccgt       c.*1320

          .         .         .         .         .         .       g.47866
 tttgagagaacctgcatatataccagtcattatctgtttggtccttatacagttttaact       c.*1380

          .         .         .         .         .         .       g.47926
 tacttagatttattctagttaagccataagttcaacgtgtaaacttgttttcattaaaga       c.*1440

          .                                                         g.47940
 atttttctatcaaa                                                     c.*1454

 (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 PC4 and SFRS1 interacting protein 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 mutations, 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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