U6 snRNA biogenesis 1 (USB1) - coding DNA reference sequence

(used for mutation description)

(last modified May 2, 2014)

This file was created to facilitate the description of sequence variants in the USB1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000016.9, covering USB1 transcript NM_024598.3.

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

 (upstream sequence)
           .         .         .         .         .                g.2878
          gcggtgccagcccaggccccgcccctgggagggcgcttccggcacagcgga       c.-61

 .         .         .         .         .         .                g.2938
 actccgggtgccggttgaggttgctggtggacctgctctggtggtcttggatgaggcccc       c.-1

          .         .         .         .         .         .       g.2998
 ATGAGCGCGGCGCCCCTGGTGGGCTACAGCAGCAGCGGCTCCGAGGATGAGTCCGAGGAC       c.60
 M  S  A  A  P  L  V  G  Y  S  S  S  G  S  E  D  E  S  E  D         p.20

          .         .         .         | 02         .         .    g.3955
 GGGATGCGGACCAGGCCGGGGGATGGGAGCCACCGTCG | TGGCCAGAGCCCCCTTCCCAGG    c.120
 G  M  R  T  R  P  G  D  G  S  H  R  R  |  G  Q  S  P  L  P  R      p.40

          .         .         .         .         .         .       g.4015
 CAGAGATTTCCAGTACCTGACAGTGTGCTGAACATGTTCCCGGGCACCGAGGAGGGGCCT       c.180
 Q  R  F  P  V  P  D  S  V  L  N  M  F  P  G  T  E  E  G  P         p.60

          .         .         .         .         .         .       g.4075
 GAAGATGACAGCACAAAACACGGGGGACGGGTGCGCACCTTCCCCCACGAGCGAGGCAAC       c.240
 E  D  D  S  T  K  H  G  G  R  V  R  T  F  P  H  E  R  G  N         p.80

          .         .      | 03  .         .         .         .    g.11418
 TGGGCCACCCACGTCTATGTACCAT | ATGAAGCCAAGGAGGAGTTCCTGGATCTGCTTGAT    c.300
 W  A  T  H  V  Y  V  P  Y |   E  A  K  E  E  F  L  D  L  L  D      p.100

          .         .         .         .         .         .       g.11478
 GTGTTGCTGCCCCATGCCCAGACATATGTCCCCCGGCTGGTAAGGATGAAGGTGTTCCAC       c.360
 V  L  L  P  H  A  Q  T  Y  V  P  R  L  V  R  M  K  V  F  H         p.120

          .         .         .         .         .         .       g.11538
 CTCAGCCTGTCCCAGAGTGTGGTTCTGCGCCACCACTGGATCCTCCCCTTCGTGCAGGCT       c.420
 L  S  L  S  Q  S  V  V  L  R  H  H  W  I  L  P  F  V  Q  A         p.140

          .         .          | 04        .         .         .    g.15758
 CTGAAAGCCCGTATGACCTCCTTCCACAG | ATTCTTCTTTACTGCCAACCAGGTAAAGATT    c.480
 L  K  A  R  M  T  S  F  H  R  |  F  F  F  T  A  N  Q  V  K  I      p.160

          .         .    | 05    .         .         .         .    g.18825
 TACACCAATCAAGAGAAAACCAG | GACCTTTATTGGGCTTGAGGTCACTTCAGGGCATGCC    c.540
 Y  T  N  Q  E  K  T  R  |  T  F  I  G  L  E  V  T  S  G  H  A      p.180

          .         .         .         .         .         .       g.18885
 CAGTTCCTGGACCTGGTTTCAGAGGTGGACAGAGTCATGGAGGAATTCAACCTCACCACT       c.600
 Q  F  L  D  L  V  S  E  V  D  R  V  M  E  E  F  N  L  T  T         p.200

           | 06        .         .         .         .         .    g.20477
 TTCTACCAG | GATCCTTCTTTCCACCTCAGCCTGGCCTGGTGTGTGGGTGATGCACGTCTC    c.660
 F  Y  Q   | D  P  S  F  H  L  S  L  A  W  C  V  G  D  A  R  L      p.220

          .         .         .    | 07    .         .         .    g.21622
 CAGCTGGAGGGGCAGTGCCTGCAGGAACTACAG | GCAATCGTGGATGGGTTTGAAGATGCT    c.720
 Q  L  E  G  Q  C  L  Q  E  L  Q   | A  I  V  D  G  F  E  D  A      p.240

          .         .         .         .         .         .       g.21682
 GAGGTGCTGCTGCGCGTGCACACTGAGCAAGTCCGCTGCAAGTCTGGGAACAAGTTCTTC       c.780
 E  V  L  L  R  V  H  T  E  Q  V  R  C  K  S  G  N  K  F  F         p.260

          .                                                         g.21700
 TCGATGCCTTTGAAGTGA                                                 c.798
 S  M  P  L  K  X                                                   p.265

          .         .         .         .         .         .       g.21760
 gcaccagaggccttcctcctccagggccctctgcagaccaggctgagatggaggaacctg       c.*60

          .         .         .         .         .         .       g.21820
 ctaaaatcgatggagatgcttctagcctcccagtaggaggccccagccatgccttcaacc       c.*120

          .         .         .         .         .         .       g.21880
 tggcaggaggtgtagccactcctcatcctccctgagtgctgatattctctctctctcttt       c.*180

          .         .         .         .         .         .       g.21940
 ctcttcctcttctttctctctcttctcctctctttctctcctctgtctctcttcctctcc       c.*240

          .         .         .         .         .         .       g.22000
 tctcttcctctcttctctcttcctctcctctctctcttcctcttctctctcttcccctcc       c.*300

          .         .         .         .         .         .       g.22060
 tgtctctcctcccctcctctcttcctctcctctctcttcctctcctctctctacccctcc       c.*360

          .         .         .         .         .         .       g.22120
 tgtctctcctcccctcctctctcttcctctcctctctctcttcctctcctctctcttccc       c.*420

          .         .         .         .         .         .       g.22180
 ttcctgtctctcttcccctcctctctctcttcctgtcctctatctcttcccctcctctat       c.*480

          .         .         .         .         .         .       g.22240
 ctcttcctctcctctctctcttcctctcctctctctctcttgctttcttctctctctcct       c.*540

          .         .         .         .         .         .       g.22300
 gtctcggctgttgtgggttgcaggttgggtgctgctgttgtggtccttcccagaaactgc       c.*600

          .         .         .         .         .         .       g.22360
 cagtagagggcagcctgggcatcctaatgcttactctggttgttacacaaagaaaatatt       c.*660

          .         .         .         .         .         .       g.22420
 ggggtcactggcgagcccacccacactcaccagaatctccactgtagtccccctaacaaa       c.*720

          .         .         .         .         .         .       g.22480
 cagcccttcacttcctctcccacttcagcaatttgtattttgatgccattggcctcagat       c.*780

          .         .         .         .         .         .       g.22540
 cagagtgttttaaatcatcacgccctggcttatccctggtcgagccaggacacggggtgc       c.*840

          .         .         .         .         .         .       g.22600
 ttcagtgggtctgtcaccctctctccttgaagcatgttgcttttatttatttacttttac       c.*900

          .         .         .         .         .         .       g.22660
 tctcaccctgctcctgtaccagcaggggccacttcaaagccaaggtacagggtgataact       c.*960

          .         .         .         .         .         .       g.22720
 tgtggtccagcatcagttttctccacttctttctcccactcacccccagcaaggtgcctg       c.*1020

          .         .         .         .         .         .       g.22780
 gggagacttgagcagatgtttcattttggcctggccagtggctgaaagccaggcctccaa       c.*1080

          .         .         .         .         .         .       g.22840
 tgcactgtgacctctggcttccccagcagctttcccagagaggcagaggggccttccaca       c.*1140

          .         .         .         .         .         .       g.22900
 gcccgggttctcctgctgcctcctgcctgctgcagctgcaggcattctgaggggcaacgt       c.*1200

          .         .         .         .         .         .       g.22960
 ggaggaagggccagggatgcatgggattttaattgtttcatcacaccttccccgtggcaa       c.*1260

          .         .         .         .         .         .       g.23020
 agaaacagtcagtcctcttcaggtgtcttctggatttctggtgatggacagagaaatctt       c.*1320

          .         .         .         .         .                 g.23078
 tttacagtttcaaattatgttcaacaaataaaaattgcattttttattttggatcttt         c.*1378

 (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 U6 snRNA biogenesis 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 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.