phosphatidylinositol glycan anchor biosynthesis, class U (PIGU) - coding DNA reference sequence

(used for variant description)

(last modified August 7, 2019)

This file was created to facilitate the description of sequence variants on transcript NM_080476.4 in the PIGU gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_011497.1, covering PIGU transcript NM_080476.4.

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

 (upstream sequence)
                                         .         .                g.5020
                                         acgcagcttgaggcgcccgc       c.-181

 .         .         .         .         .         .                g.5080
 tttccgtcgctccggcccgcctcgccgcaaggctttctgggagccgtagtccccacgtct       c.-121

 .         .         .         .         .         .                g.5140
 ggcctctccggcgccagcggcagcgcgcgcccacccgcggaactacagagcgtggcgcac       c.-61

 .         .         .         .         .         .                g.5200
 agcgcgcgaggctcctccgcctcgccttccctccccgcccgcgcgcccgccccagttatc       c.-1

          .         .         .         .         .         .       g.5260
 ATGGCGGCTCCCTTGGTCCTGGTGCTGGTGGTGGCTGTGACAGTGCGGGCGGCCTTGTTC       c.60
 M  A  A  P  L  V  L  V  L  V  V  A  V  T  V  R  A  A  L  F         p.20

          .         .         .         .         .         .       g.5320
 CGCTCCAGTCTGGCCGAGTTCATTTCCGAGCGGGTGGAGGTGGTGTCCCCACTGAGCTCT       c.120
 R  S  S  L  A  E  F  I  S  E  R  V  E  V  V  S  P  L  S  S         p.40

          . | 02       .         .         .         .         .    g.25091
 TGGAAGAGAG | TGGTTGAAGGCCTTTCACTGTTGGACTTGGGAGTATCTCCGTATTCTGGA    c.180
 W  K  R  V |   V  E  G  L  S  L  L  D  L  G  V  S  P  Y  S  G      p.60

          .      | 03  .         .         .         .         .    g.36996
 GCAGTATTTCATGAA | ACTCCATTAATAATATACCTCTTTCATTTCCTAATTGACTATGCT    c.240
 A  V  F  H  E   | T  P  L  I  I  Y  L  F  H  F  L  I  D  Y  A      p.80

          .      | 04  .         .         .         .         .    g.38104
 GAATTGGTGTTTATG | ATAACTGATGCACTCACTGCTATTGCCCTGTATTTTGCAATCCAG    c.300
 E  L  V  F  M   | I  T  D  A  L  T  A  I  A  L  Y  F  A  I  Q      p.100

          .         | 05         .         .         .         .    g.44342
 GACTTCAATAAAGTTGTG | TTTAAAAAGCAGAAACTCCTCCTAGAACTGGACCAGTATGCC    c.360
 D  F  N  K  V  V   | F  K  K  Q  K  L  L  L  E  L  D  Q  Y  A      p.120

          .         .         .         .         .         .       g.44402
 CCAGATGTGGCCGAACTCATCCGGACCCCTATGGAAATGCGTTACATCCCTTTGAAAGTG       c.420
 P  D  V  A  E  L  I  R  T  P  M  E  M  R  Y  I  P  L  K  V         p.140

          | 06         .         .         .         .         .    g.47622
 GCCCTGTT | CTATCTCTTAAATCCTTACACGATTTTGTCTTGTGTTGCCAAGTCTACCTGT    c.480
 A  L  F  |  Y  L  L  N  P  Y  T  I  L  S  C  V  A  K  S  T  C      p.160

          .         .         .         .          | 07        .    g.66157
 GCCATCAACAACACCCTCATTGCTTTCTTCATTTTGACTACGATAAAAG | GCAGTGCTTTC    c.540
 A  I  N  N  T  L  I  A  F  F  I  L  T  T  I  K  G |   S  A  F      p.180

          .         .         .         .         .         .       g.66217
 CTCAGTGCTATTTTTCTTGCCTTAGCGACATACCAGTCTCTGTACCCACTCACCTTGTTT       c.600
 L  S  A  I  F  L  A  L  A  T  Y  Q  S  L  Y  P  L  T  L  F         p.200

          .         .        | 08.         .         .         .    g.93711
 GTCCCAGGACTCCTCTATCTCCTCCAG | CGGCAGTACATACCTGTGAAAATGAAGAGCAAA    c.660
 V  P  G  L  L  Y  L  L  Q   | R  Q  Y  I  P  V  K  M  K  S  K      p.220

          .         .         .         .         .         .       g.93771
 GCCTTCTGGATCTTTTCTTGGGAGTATGCCATGATGTATGTGGGAAGCCTAGTGGTAATC       c.720
 A  F  W  I  F  S  W  E  Y  A  M  M  Y  V  G  S  L  V  V  I         p.240

          .         .         .         .         .         .       g.93831
 ATTTGCCTCTCCTTCTTCCTTCTCAGCTCTTGGGATTTCATCCCCGCAGTCTATGGCTTT       c.780
 I  C  L  S  F  F  L  L  S  S  W  D  F  I  P  A  V  Y  G  F         p.260

    | 09     .         .         .         .         .         .    g.96763
 AT | ACTTTCTGTTCCAGATCTCACTCCAAACATTGGTCTTTTCTGGTACTTCTTTGCAGAG    c.840
 I  |  L  S  V  P  D  L  T  P  N  I  G  L  F  W  Y  F  F  A  E      p.280

          .         .         .         .         .         .       g.96823
 ATGTTTGAGCACTTCAGCCTCTTCTTTGTATGTGTGTTTCAGATCAACGTCTTCTTCTAC       c.900
 M  F  E  H  F  S  L  F  F  V  C  V  F  Q  I  N  V  F  F  Y         p.300

          .         .       | 10 .         .         .         .    g.100647
 ACCATCCCCTTAGCCATAAAGCTAAA | GGAGCACCCCATCTTCTTCATGTTTATCCAGATC    c.960
 T  I  P  L  A  I  K  L  K  |  E  H  P  I  F  F  M  F  I  Q  I      p.320

          .         .         .         .         .         .       g.100707
 GCTGTCATCGCCATCTTTAAGTCCTACCCGACAGTGGGGGACGTGGCGCTCTACATGGCC       c.1020
 A  V  I  A  I  F  K  S  Y  P  T  V  G  D  V  A  L  Y  M  A         p.340

          .         .         .  | 11      .         .         .    g.107068
 TTCTTCCCCGTGTGGAACCATCTCTACAGAT | TCCTGAGAAACATCTTTGTCCTCACCTGC    c.1080
 F  F  P  V  W  N  H  L  Y  R  F |   L  R  N  I  F  V  L  T  C      p.360

          .         .         .         .         .         .       g.107128
 ATCATCATCGTCTGTTCCCTGCTCTTCCCTGTCCTGTGGCACCTCTGGATTTATGCAGGA       c.1140
 I  I  I  V  C  S  L  L  F  P  V  L  W  H  L  W  I  Y  A  G         p.380

          .         .         .         .         .     | 12   .    g.121312
 AGTGCCAACTCTAATTTCTTTTATGCCATCACACTGACCTTCAACGTTGGGCAG | ATCCTG    c.1200
 S  A  N  S  N  F  F  Y  A  I  T  L  T  F  N  V  G  Q   | I  L      p.400

          .         .         .         .         .         .       g.121372
 CTCATCTCTGATTACTTCTATGCCTTCCTGCGGCGGGAGTACTACCTCACACATGGCCTC       c.1260
 L  I  S  D  Y  F  Y  A  F  L  R  R  E  Y  Y  L  T  H  G  L         p.420

          .         .         .         .                           g.121420
 TACTTGACCGCCAAGGATGGCACAGAGGCCATGCTCGTGCTCAAGTAG                   c.1308
 Y  L  T  A  K  D  G  T  E  A  M  L  V  L  K  X                     p.435

          .         .         .         .         .         .       g.121480
 gcctggctggcacagggctgcatggacctcagggggctgtggggccagaagctgggccaa       c.*60

          .         .         .         .         .         .       g.121540
 gccctccagccagagttgccagcaggcgagtgcttgggcagaagaggttcgagtccaggg       c.*120

          .         .         .         .         .         .       g.121600
 tcacaagtctctggtaccaaaagggacccatggctgactgacagcaaggcctatggggaa       c.*180

          .         .         .         .         .         .       g.121660
 gaactgggagctccccaacttggacccccaccttgtggctctgcacaccaaggagccccc       c.*240

          .         .         .         .         .         .       g.121720
 tcccagacaggaaggagaagaggcaggtgagcagggcttgttagattgtggctacttaat       c.*300

          .         .                                               g.121744
 aaatgttttttgttatgaagtcta                                           c.*324

 (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 Phosphatidylinositol glycan anchor biosynthesis, class U 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.