ring finger protein 113A (RNF113A) - coding DNA reference sequence

(used for variant description)

(last modified August 6, 2019)

This file was created to facilitate the description of sequence variants on transcript NM_006978.2 in the RNF113A gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_021227.1, covering RNF113A transcript NM_006978.2.

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

 (upstream sequence)
                               .         .         .                g.5035
                          gcggccgcccgcgagcggggcggtgccacgtacgg       c.-181

 .         .         .         .         .         .                g.5095
 ctccggaagaagcgacggaatctgctagggcacaagagagacgggcgctcgggctctcgc       c.-121

 .         .         .         .         .         .                g.5155
 agtcctcttccgtcagtgtcttttgcttcgactcccggcggagcgcgcaacgtggagtga       c.-61

 .         .         .         .         .         .                g.5215
 cgtgcaggggccaagtgcaacccaggcagccacggctgtttcggagctcaggactctaaa       c.-1

          .         .         .         .         .         .       g.5275
 ATGGCAGAGCAGCTTTCTCCAGGAAAGGCGGTGGATCAGGTGTGCACCTTCCTTTTCAAA       c.60
 M  A  E  Q  L  S  P  G  K  A  V  D  Q  V  C  T  F  L  F  K         p.20

          .         .         .         .         .         .       g.5335
 AAGCCTGGGCGGAAAGGGGCTGCTGGACGCAGAAAGCGCCCGGCCTGCGACCCAGAGCCC       c.120
 K  P  G  R  K  G  A  A  G  R  R  K  R  P  A  C  D  P  E  P         p.40

          .         .         .         .         .         .       g.5395
 GGAGAAAGCGGCAGCAGTAGCGACGAAGGCTGCACTGTGGTTCGACCGGAAAAGAAGCGG       c.180
 G  E  S  G  S  S  S  D  E  G  C  T  V  V  R  P  E  K  K  R         p.60

          .         .         .         .         .         .       g.5455
 GTGACCCACAATCCAATGATACAGAAGACCCGTGACAGTGGTAAACAGAAGGCGGCTTAC       c.240
 V  T  H  N  P  M  I  Q  K  T  R  D  S  G  K  Q  K  A  A  Y         p.80

          .         .         .         .         .         .       g.5515
 GGCGACTTGAGCAGCGAAGAGGAAGAGGAAAATGAGCCCGAGAGTCTCGGCGTGGTTTAT       c.300
 G  D  L  S  S  E  E  E  E  E  N  E  P  E  S  L  G  V  V  Y         p.100

          .         .         .         .         .         .       g.5575
 AAATCCACCCGTTCGGCGAAACCCGTGGGACCAGAGGATATGGGAGCGACAGCTGTCTAT       c.360
 K  S  T  R  S  A  K  P  V  G  P  E  D  M  G  A  T  A  V  Y         p.120

          .         .         .         .         .         .       g.5635
 GAGCTGGACACAGAGAAAGAGCGCGATGCACAAGCCATCTTTGAGCGCAGCCAGAAGATC       c.420
 E  L  D  T  E  K  E  R  D  A  Q  A  I  F  E  R  S  Q  K  I         p.140

          .         .         .         .         .         .       g.5695
 CAGGAGGAGCTGAGGGGCAAGGAGGATGACAAGATCTATCGGGGAATCAACAATTATCAG       c.480
 Q  E  E  L  R  G  K  E  D  D  K  I  Y  R  G  I  N  N  Y  Q         p.160

          .         .         .         .         .         .       g.5755
 AAATACATGAAGCCCAAGGATACGTCTATGGGCAATGCCTCTTCCGGGATGGTGAGGAAG       c.540
 K  Y  M  K  P  K  D  T  S  M  G  N  A  S  S  G  M  V  R  K         p.180

          .         .         .         .         .         .       g.5815
 GGCCCCATCCGAGCGCCCGAGCATCTACGTGCCACCGTGCGCTGGGATTACCAGCCCGAC       c.600
 G  P  I  R  A  P  E  H  L  R  A  T  V  R  W  D  Y  Q  P  D         p.200

          .         .         .         .         .         .       g.5875
 ATCTGTAAGGACTACAAAGAGACTGGCTTCTGCGGCTTCGGAGACAGCTGCAAATTCCTC       c.660
 I  C  K  D  Y  K  E  T  G  F  C  G  F  G  D  S  C  K  F  L         p.220

          .         .         .         .         .         .       g.5935
 CATGACCGTTCAGATTACAAGCATGGGTGGCAGATCGAACGTGAGCTTGATGAGGGTCGC       c.720
 H  D  R  S  D  Y  K  H  G  W  Q  I  E  R  E  L  D  E  G  R         p.240

          .         .         .         .         .         .       g.5995
 TATGGTGTCTATGAGGATGAAAACTATGAAGTGGGAAGCGATGATGAGGAAATACCATTC       c.780
 Y  G  V  Y  E  D  E  N  Y  E  V  G  S  D  D  E  E  I  P  F         p.260

          .         .         .         .         .         .       g.6055
 AAGTGTTTCATCTGTCGCCAGAGCTTCCAAAACCCAGTTGTCACCAAGTGCAGGCATTAT       c.840
 K  C  F  I  C  R  Q  S  F  Q  N  P  V  V  T  K  C  R  H  Y         p.280

          .         .         .         .         .         .       g.6115
 TTCTGCGAGAGCTGTGCACTGCAGCATTTCCGCACCACCCCGCGCTGCTATGTCTGTGAC       c.900
 F  C  E  S  C  A  L  Q  H  F  R  T  T  P  R  C  Y  V  C  D         p.300

          .         .         .         .         .         .       g.6175
 CAGCAGACCAATGGCGTCTTCAATCCAGCGAAAGAATTGATTGCTAAACTAGAGAAGCAT       c.960
 Q  Q  T  N  G  V  F  N  P  A  K  E  L  I  A  K  L  E  K  H         p.320

          .         .         .         .         .         .       g.6235
 CGAGCTACAGGAGAGGGTGGTGCTTCCGACTTGCCAGAAGACCCCGATGAGGATGCAATT       c.1020
 R  A  T  G  E  G  G  A  S  D  L  P  E  D  P  D  E  D  A  I         p.340

          .                                                         g.6247
 CCCATTACTTAG                                                       c.1032
 P  I  T  X                                                         p.343

          .         .         .         .         .                 g.6297
 gtttcccataattcttaaatttaaaaaataaacgttttgttcttttggaa                 c.*50

 (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 Ring finger protein 113A 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.