spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1) - coding DNA reference sequence

(used for variant description)

(last modified October 19, 2020)

This file was created to facilitate the description of sequence variants on transcript NM_001012415.2 in the SOHLH1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_033784.1, covering SOHLH1 transcript NM_001012415.2.

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

 (upstream sequence)
                                                                    g.5001
                                                            g       c.-61

 .         .         .         .         .         .                g.5061
 ggggcggggctgcctgcggaaggggccgtgcgcgtggggtcgctccgcagctgcgagttc       c.-1

          .         .         .         .         .         .       g.5121
 ATGGCGTCCCGGTGCTCCGAGCCCTACCCGGAGGTCTCCAGAATCCCTACCGTCAGGGGA       c.60
 M  A  S  R  C  S  E  P  Y  P  E  V  S  R  I  P  T  V  R  G         p.20

       | 02  .         .         .         .         .         .    g.5457
 TGCAA | CGGCTCCCTGTCTGGTGCCCTCTCCTGCTGCGAGGACTCGGCCCAGGGCTCGGGC    c.120
 C  N  |  G  S  L  S  G  A  L  S  C  C  E  D  S  A  Q  G  S  G      p.40

          .         .         .         .         .         .       g.5517
 CCGCCCAAGGCCCCTACGGTGGCCGAGGGTCCCAGCTCCTGCCTTCGGCGGAACGTGATC       c.180
 P  P  K  A  P  T  V  A  E  G  P  S  S  C  L  R  R  N  V  I         p.60

          .        | 03.         .         .         .         .    g.6095
 AGCGAGAGGGAGCGCAG | GAAGCGGATGTCGTTGAGCTGTGAGCGTCTGCGGGCCCTGCTG    c.240
 S  E  R  E  R  R  |  K  R  M  S  L  S  C  E  R  L  R  A  L  L      p.80

          .         .         .         .         .         .       g.6155
 CCCCAGTTCGATGGCCGGCGGGAGGACATGGCCTCGGTCCTGGAGATGTCTGTGCAGTTC       c.300
 P  Q  F  D  G  R  R  E  D  M  A  S  V  L  E  M  S  V  Q  F         p.100

          .         .         .         .      | 04  .         .    g.6916
 CTGCGGCTTGCCAGCGCCCTGGGGCCCAGTCAGGAGCAGCACGCT | ATTCTTGCTTCCTCC    c.360
 L  R  L  A  S  A  L  G  P  S  Q  E  Q  H  A   | I  L  A  S  S      p.120

          .         .         .         .         .         .       g.6976
 AAGGAAATGTGGCACTCGTTGCAGGAGGATGTTTTACAGTTGACGTTGTCGAGTCAGATT       c.420
 K  E  M  W  H  S  L  Q  E  D  V  L  Q  L  T  L  S  S  Q  I         p.140

          .         .         .         .        | 05.         .    g.7736
 CAAGCAGGTGTGCCAGACCCTGGGACGGGAGCGTCCAGCGGGACTCG | AACCCCAGATGTG    c.480
 Q  A  G  V  P  D  P  G  T  G  A  S  S  G  T  R  |  T  P  D  V      p.160

          .         .         .         .         .         .       g.7796
 AAGGCGTTTCTGGAAAGTCCTTGGTCCCTGGATCCAGCGTCGGCCAGCCCAGAGCCCGTG       c.540
 K  A  F  L  E  S  P  W  S  L  D  P  A  S  A  S  P  E  P  V         p.180

          .         .         .         .         .         .       g.7856
 CCGCACATCCTTGCGTCCTCCAGGCAGTGGGACCCCGCGAGCTGCACGTCCCTGGGCACG       c.600
 P  H  I  L  A  S  S  R  Q  W  D  P  A  S  C  T  S  L  G  T         p.200

          .         .         .         .         .         .       g.7916
 GACAAGTGTGAGGCACTGTTGGGGCTGTGCCAGGTGCGGGGTGGGCTGCCCCCTTTCTCA       c.660
 D  K  C  E  A  L  L  G  L  C  Q  V  R  G  G  L  P  P  F  S         p.220

   | 06      .         .         .         .         .         .    g.9324
 G | AACCTTCCAGCCTGGTGCCGTGGCCCCCAGGCCGGAGTCTTCCTAAGGCTGTGAGGCCA    c.720
 E |   P  S  S  L  V  P  W  P  P  G  R  S  L  P  K  A  V  R  P      p.240

          .         .         .         .         .         .       g.9384
 CCCCTGTCCTGGCCTCCGTTCTCGCAGCAGCAGACCTTGCCCGTGATGAGCGGGGAGGCC       c.780
 P  L  S  W  P  P  F  S  Q  Q  Q  T  L  P  V  M  S  G  E  A         p.260

          .         .         .         .         .         .       g.9444
 CTTGGCTGGCTGGGCCAGGCTGGGCCCCTGGCCATGGGGGCTGCACCTCTGGGGGAGCCA       c.840
 L  G  W  L  G  Q  A  G  P  L  A  M  G  A  A  P  L  G  E  P         p.280

          .         .         .      | 07  .         .         .    g.10096
 GCCAAGGAGGACCCCATGCTGGCGCAGGAGGCCGG | GTCTGCGTTGGGGTCTGATGTGGAC    c.900
 A  K  E  D  P  M  L  A  Q  E  A  G  |  S  A  L  G  S  D  V  D      p.300

          .         .         .         .         .         .       g.10156
 GATGGGACGTCCTTCCTGCTGACTGCTGGTCCCAGCTCGTGGCCGGGTGAGTGGGGCCCT       c.960
 D  G  T  S  F  L  L  T  A  G  P  S  S  W  P  G  E  W  G  P         p.320

          .         .                                               g.10183
 GGGTTCAGGGCTGGTCCCCCCGCGTAA                                        c.987
 G  F  R  A  G  P  P  A  X                                          p.328

          .         .         .         .         .         .       g.10243
 gcacctgatatgagctggggaattgggactcaggcctagcgtgtgtcagggggccccagg       c.*60

          .         .         .         .         .         .       g.10303
 gtctgtgtctgagcccccgttttctccaccgttggtgcttagctgttgggccgtgtctgg       c.*120

          .         .         .         .         .         .       g.10363
 tattgagcgttataggtgatatgtgagtgtgtgagtgaacgtgatgtggacgagcctgca       c.*180

          .         .         .         .         .         .       g.10423
 tgagagctggcggtgcttggagccctgtattcttccccttgaccctgtgtcagcgaggcc       c.*240

          .         .         .         .         .         .       g.10483
 cctggtccagcccgtgctggccggcaaaggtgtatggccctgtgacatggcgtgtgtcca       c.*300

          .         .         .         .         .         .       g.10543
 ttccatttaggatttagtgtttgggagcccgttcctggttctggtccaacaggtgtcctg       c.*360

          .         .         .         .         .         .       g.10603
 ggtctggggccaccaggtatgagctcacccacctcatcacagcctctgtgcagcggggac       c.*420

          .         .         .         .         .         .       g.10663
 agggcagggcagacggactgaggtgggagctctgttcctccgaccccacctgtctgcctc       c.*480

          .         .         .         .         .         .       g.10723
 aagctcccagagcacctgcctgccctgccgatgtgtcctgtttgcttccagggtctctgg       c.*540

          .         .         .         .         .         .       g.10783
 agggtcgaggaggcagtggccctgcatgggccccagctgagagcagtccactggatgttg       c.*600

          .         .         .         .         .         .       g.10843
 gagagccaggcttcctaggggaccctgagcttggctcccaggagctccaggacagccctc       c.*660

          .         .         .         .         .         .       g.10903
 tggagccgtggggcctggatgtggactgtgcaggcctggccctgaaggacgaggtggaga       c.*720

          .         .         .         .         .         .       g.10963
 gcatcttccctgacttctttgcctgctagcagccaggctgtggagaggaggcgggcgggg       c.*780

          .         .         .         .         .         .       g.11023
 ccggtggatctggagccgtgtgtgtccctgtcgcgtgcttgggcattttattttgggttt       c.*840

          .         .         .         .         .         .       g.11083
 gggttgcagctgcaccctaatttgagcgaggcttacaggctgtgagaagaggatagtgaa       c.*900

          .         .         .                                     g.11122
 tattaaagagggaaagcagttttcctggaggaagcaaaa                            c.*939

 (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 Spermatogenesis and oogenesis specific basic helix-loop-helix 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 variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.