selenophosphate synthetase 1 (SEPHS1) - coding DNA reference sequence

(used for variant description)

(last modified April 29, 2024)

This file was created to facilitate the description of sequence variants on transcript NM_012247.4 in the SEPHS1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000010.10, covering SEPHS1 transcript NM_012247.4.

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

 (upstream sequence)
                                                   .                g.5017
                                            gggccgcacgccgccac       c.-361

 .         .         .         .         .         .                g.5077
 ccagcagccagggccgcctcttaaagggaggtggccggccttaaaggacccccgcgcgcc       c.-301

 .         .         .         .         .         .                g.5137
 cagccggcgggagcgcggcggcccggctcccgcagggccgcgccgaggcaggcgagcccc       c.-241

 .         .         .         .         .         .                g.5197
 cgcggcgcccaggcgcgggcccgggcccccgccgccgccgccgccgccgggcgcggcatt       c.-181

 .         .         .         .         .         .                g.5257
 tttattcaggcgacgcttaagggagcccggccgcgcccggtgcattgtgggagcggcccg       c.-121

 .         .         .         .         .  | 02      .             g.8288
 cggcccgttttcgggaggaggcggagggcgcaaagcgagccg | gtggatccataaagaacc    c.-61

 .         .         .         .         .         .                g.8348
 cagccaacccgcagagggaggggaggggctgagctgtgaggagagcggggcccaagaacc       c.-1

          .         .         .         .         .         .       g.8408
 ATGTCTACGCGGGAGTCCTTTAACCCGGAAAGTTACGAATTGGACAAAAGCTTCCGGCTA       c.60
 M  S  T  R  E  S  F  N  P  E  S  Y  E  L  D  K  S  F  R  L         p.20

          .         .         .         .         .         .       g.8468
 ACCAGATTCACTGAACTGAAGGGCACAGGCTGCAAAGTGCCCCAAGATGTCCTGCAAAAA       c.120
 T  R  F  T  E  L  K  G  T  G  C  K  V  P  Q  D  V  L  Q  K         p.40

          .         .         .         .         .         .       g.8528
 TTGCTGGAATCTTTACAGGAGAACCACTTCCAAGAAGATGAGCAGTTTCTGGGAGCCGTT       c.180
 L  L  E  S  L  Q  E  N  H  F  Q  E  D  E  Q  F  L  G  A  V         p.60

          .    | 03    .         .         .         .         .    g.14537
 ATGCCAAGGCTTG | GCATTGGAATGGATACTTGTGTCATTCCTTTGAGGCACGGTGGGCTT    c.240
 M  P  R  L  G |   I  G  M  D  T  C  V  I  P  L  R  H  G  G  L      p.80

          .         .         .         .         .        | 04.    g.16951
 TCCTTGGTTCAAACCACAGATTACATTTACCCGATCGTAGACGACCCTTACATGATG | GGC    c.300
 S  L  V  Q  T  T  D  Y  I  Y  P  I  V  D  D  P  Y  M  M   | G      p.100

          .         .         .         .         .         .       g.17011
 AGGATAGCGTGTGCCAATGTCCTCAGTGACCTCTATGCAATGGGGGTCACGGAATGTGAC       c.360
 R  I  A  C  A  N  V  L  S  D  L  Y  A  M  G  V  T  E  C  D         p.120

          .         .         .         .      | 05  .         .    g.19342
 AATATGCTGATGCTCCTTGGAGTCAGTAATAAAATGACCGACAGG | GAAAGGGATAAAGTG    c.420
 N  M  L  M  L  L  G  V  S  N  K  M  T  D  R   | E  R  D  K  V      p.140

          .         .         .         .         .         .       g.19402
 ATGCCTCTGATTATCCAAGGTTTTAAAGACGCAGCTGAGGAAGCAGGAACATCTGTAACA       c.480
 M  P  L  I  I  Q  G  F  K  D  A  A  E  E  A  G  T  S  V  T         p.160

          .         .         .         .         .         .       g.19462
 GGCGGCCAAACAGTACTAAACCCCTGGATTGTCCTGGGAGGAGTGGCTACCACTGTCTGC       c.540
 G  G  Q  T  V  L  N  P  W  I  V  L  G  G  V  A  T  T  V  C         p.180

          .         . | 06       .         .         .         .    g.23550
 CAACCCAATGAATTTATCAT | GCCAGACAATGCAGTGCCAGGGGACGTGCTGGTGCTGACA    c.600
 Q  P  N  E  F  I  M  |  P  D  N  A  V  P  G  D  V  L  V  L  T      p.200

          .         .         .         .         .  | 07      .    g.24857
 AAACCCCTGGGGACACAGGTGGCAGTGGCTGTGCACCAGTGGCTGGATATC | CCTGAGAAA    c.660
 K  P  L  G  T  Q  V  A  V  A  V  H  Q  W  L  D  I   | P  E  K      p.220

          .         .         .         .         .         .       g.24917
 TGGAATAAGATTAAACTAGTGGTCACCCAAGAAGATGTAGAGCTGGCCTACCAGGAGGCG       c.720
 W  N  K  I  K  L  V  V  T  Q  E  D  V  E  L  A  Y  Q  E  A         p.240

          .         .         .  | 08      .         .         .    g.30280
 ATGATGAACATGGCGAGGCTCAACAGGACAG | CTGCAGGACTCATGCACACGTTCAATGCC    c.780
 M  M  N  M  A  R  L  N  R  T  A |   A  G  L  M  H  T  F  N  A      p.260

          .         .         .         .         .         .       g.30340
 CACGCCGCCACTGACATCACGGGCTTCGGGATTTTGGGCCATGCGCAGAACCTGGCCAAG       c.840
 H  A  A  T  D  I  T  G  F  G  I  L  G  H  A  Q  N  L  A  K         p.280

          .         .         .         .         .         .       g.30400
 CAGCAGAGGAACGAGGTGTCGTTTGTAATTCACAACCTCCCGGTGCTGGCCAAGATGGCT       c.900
 Q  Q  R  N  E  V  S  F  V  I  H  N  L  P  V  L  A  K  M  A         p.300

          .         .         .         .         .         .       g.30460
 GCGGTGAGCAAGGCCTGCGGAAACATGTTCGGCCTCATGCACGGGACCTGCCCGGAGACT       c.960
 A  V  S  K  A  C  G  N  M  F  G  L  M  H  G  T  C  P  E  T         p.320

      | 09   .         .         .         .         .         .    g.33998
 TCAG | GCGGCCTTCTGATCTGTTTACCACGTGAGCAAGCAGCTCGGTTCTGTGCAGAGATA    c.1020
 S  G |   G  L  L  I  C  L  P  R  E  Q  A  A  R  F  C  A  E  I      p.340

          .         .         .         .         .         .       g.34058
 AAGTCCCCCAAATATGGTGAAGGCCACCAAGCATGGATTATTGGGATTGTAGAGAAGGGC       c.1080
 K  S  P  K  Y  G  E  G  H  Q  A  W  I  I  G  I  V  E  K  G         p.360

          .         .         .         .         .         .       g.34118
 AACCGCACAGCCAGAATCATAGACAAACCCCGGATCATCGAGGTCGCACCACAAGTGGCC       c.1140
 N  R  T  A  R  I  I  D  K  P  R  I  I  E  V  A  P  Q  V  A         p.380

          .         .         .                                     g.34157
 ACTCAAAATGTGAATCCCACACCCGGGGCCACCTCTTAA                            c.1179
 T  Q  N  V  N  P  T  P  G  A  T  S  X                              p.392

          .         .         .         .         .         .       g.34217
 tctagacagaaatagctgtttggttttgtttttaaatagatctatttcccttatcacttc       c.*60

          .         .         .         .         .         .       g.34277
 aattaaagactataaacaacaaaaatctcattgtgtctacacatcggggtgaccttaggt       c.*120

          .         .         .         .         .         .       g.34337
 cggtttgtaagtggatacaattaataaaataaaatccattgcctttttttcctgttacat       c.*180

          .         .         .         .         .         .       g.34397
 taactgaagatgcacctaatcttgaggcagcttctgagttgagaattatattgttatcca       c.*240

          .         .         .         .         .         .       g.34457
 atactgttgattcattttgaatctttagacacttatctcttgccgcataggctttttaaa       c.*300

          .         .         .         .         .         .       g.34517
 ggtgctttcacatagcacaggcattacccgtagtcgtgtcaaatagcagttggtgtcttc       c.*360

          .         .         .         .         .         .       g.34577
 attttatgtatatttatcatataagtctgatttttttttttaagcgtcttgaatggtttt       c.*420

          .         .         .         .         .         .       g.34637
 ctggagagacagcattggtaagtggcacatgacggtatcccagtcataagagggttgcat       c.*480

          .         .         .         .         .         .       g.34697
 gattcctttgagtgtttgatttgaaaagcctagtcttgtctctcaagagcatctcggacc       c.*540

          .         .         .         .         .         .       g.34757
 cagaacattctccagtagtgcattcagttcaacacagcaagtgcttcattgcatggaaaa       c.*600

          .         .         .         .         .         .       g.34817
 cactttgaagacaaaaaagaaatcttatttctttttttgtagccttcctgatatttacag       c.*660

          .         .         .         .         .         .       g.34877
 taataccattaactgttttatcgatagcaaaaaaggatactttttgcaatgttattagat       c.*720

          .         .         .         .         .         .       g.34937
 gttctatagtgctacaaggaattgccttccgaatggaggttcatgtataatactcattta       c.*780

          .         .         .         .         .         .       g.34997
 caattcaatatataattacacaaataatttttaaatataatcaatagtaaagactgttct       c.*840

          .         .         .         .         .         .       g.35057
 gtggatggtagtgtttaatacattttctattttgtacagtgatttcaggccttttgtttt       c.*900

          .         .         .         .         .         .       g.35117
 cttaaaatcagcagctgtttggcctaattcttagcattattttgtcctttgcgccagtac       c.*960

          .         .         .         .         .         .       g.35177
 ttttttgtgcacgctttttgtgatctgtgttaaaaacctgcattgccaacattgcagctc       c.*1020

          .         .         .         .         .         .       g.35237
 gaacttaaacttgttattcaaataaatatttaattttttaaattgctcttgtataatcag       c.*1080

          .         .         .         .         .         .       g.35297
 atgccccttttagtattattttagaagcgttgggagggttttgcctaaagtacaatttat       c.*1140

          .         .         .         .         .         .       g.35357
 cgggaaaaactagattttagttttataaaacttttaagtctttcatgggacctatatttt       c.*1200

          .         .         .         .         .         .       g.35417
 cttgaattaaattttgtagttctagaataaataggcaatctaaaaaggtgttctctgtgt       c.*1260

          .         .         .         .         .         .       g.35477
 tatgtaaagtggaggcttccttatattttaacctactaagcaatgaggagggattcctgt       c.*1320

          .         .         .         .         .         .       g.35537
 cattaagcacaagggcgctggatcctcaagtgcccatcttcgtgagagaaaaagcagcac       c.*1380

          .         .         .         .         .         .       g.35597
 atcctgcccatttctggtgctttctgctcacaggcaccaaagctgcacatgtaaactgac       c.*1440

          .         .         .         .         .         .       g.35657
 ttcttgccaaaggaaatgacccctgggaagttcaagctcctggaagaggctttaactcgg       c.*1500

          .         .         .         .         .         .       g.35717
 acgcgccctcctccaggaaccagtgggcagggcagccttcatgcatgtgtaactggacct       c.*1560

          .         .         .         .         .         .       g.35777
 ccagccataagcatggtgtgcagtatggaagagcctgctacggaactgaaagtgattgga       c.*1620

          .         .         .         .         .         .       g.35837
 cattttataggaattgatagagatgttggtcctcaaaagctacaaaccagtggtctgcaa       c.*1680

          .         .                                               g.35861
 aataaagtgtgttggaaacctcta                                           c.*1704

 (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 Selenophosphate synthetase 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.