zinc finger, C4H2 domain containing (ZC4H2) - coding DNA reference sequence

(used for variant description)

(last modified May 3, 2019)

This file was created to facilitate the description of sequence variants on transcript NM_018684.3 in the ZC4H2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_021200.2, covering ZC4H2 transcript NM_018684.3.

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

 (upstream sequence)
                               .         .         .                g.63247
                         cctgaagctccggactacagctcccaggcctctcca       c.-121

 .         .         .         .         .         .                g.63307
 agcccctaccgcacaggctcatagccccaagcccggaggaggtggctacattgtgtctat       c.-61

 .         .         .         .         .         .                g.63367
 tgtatcccttggctggtgtatttgtacatctctcgggacgtgaaattgacagtgaaaagt       c.-1

          .         .         .         .         .    | 02    .    g.117763
 ATGGCAGATGAGCAAGAAATCATGTGCAAATTGGAAAGCATTAAAGAGATCAG | GAACAAG    c.60
 M  A  D  E  Q  E  I  M  C  K  L  E  S  I  K  E  I  R  |  N  K      p.20

          .         .         .         .         .         .       g.117823
 ACCCTGCAGATGGAGAAGATCAAGGCTCGTTTGAAGGCTGAGTTTGAGGCACTTGAGTCA       c.120
 T  L  Q  M  E  K  I  K  A  R  L  K  A  E  F  E  A  L  E  S         p.40

          .         .         .         .         .         .       g.117883
 GAGGAAAGGCACCTGAAGGAATACAAGCAGGAGATGGACCTTCTGCTACAGGAGAAGATG       c.180
 E  E  R  H  L  K  E  Y  K  Q  E  M  D  L  L  L  Q  E  K  M         p.60

          .         .         .         .      | 03  .         .    g.119506
 GCCCATGTGGAGGAACTCCGACTGATCCACGCTGACATCAATGTG | ATGGAAAACACTATC    c.240
 A  H  V  E  E  L  R  L  I  H  A  D  I  N  V   | M  E  N  T  I      p.80

          .         .         .         .         .         .       g.119566
 AAACAATCTGAGAATGACCTAAACAAGCTGCTAGAGTCTACAAGGAGGCTGCATGATGAG       c.300
 K  Q  S  E  N  D  L  N  K  L  L  E  S  T  R  R  L  H  D  E         p.100

          .         .         .         .         .         .       g.119626
 TATAAGCCACTGAAAGAACATGTGGATGCCCTGCGCATGACTCTGGGCCTGCAGAGGCTC       c.360
 Y  K  P  L  K  E  H  V  D  A  L  R  M  T  L  G  L  Q  R  L         p.120

          .         .         .         | 04         .         .    g.120562
 CCTGACTTGTGTGAAGAAGAGGAGAAGCTTTCCTTGGA | TTACTTTGAGAAGCAGAAAGCA    c.420
 P  D  L  C  E  E  E  E  K  L  S  L  D  |  Y  F  E  K  Q  K  A      p.140

          .         .         .         .         .         .       g.120622
 GAATGGCAGACAGAACCTCAGGAGCCCCCCATCCCTGAGTCCCTGGCCGCTGCAGCCGCT       c.480
 E  W  Q  T  E  P  Q  E  P  P  I  P  E  S  L  A  A  A  A  A         p.160

          .         .         .         .         .         .       g.120682
 GCCGCCCAACAGCTCCAAGTGGCTAGGAAGCAGGATACTCGGCAGACGGCCACCTTCAGG       c.540
 A  A  Q  Q  L  Q  V  A  R  K  Q  D  T  R  Q  T  A  T  F  R         p.180

          .         .  | 05      .         .         .         .    g.121887
 CAGCAGCCCCCACCTATGAAG | GCCTGCTTGTCATGTCACCAGCAAATTCACCGGAATGCA    c.600
 Q  Q  P  P  P  M  K   | A  C  L  S  C  H  Q  Q  I  H  R  N  A      p.200

          .         .         .         .         .         .       g.121947
 CCTATATGCCCTCTTTGCAAGGCCAAGAGTCGGTCCCGGAACCCCAAAAAGCCGAAACGG       c.660
 P  I  C  P  L  C  K  A  K  S  R  S  R  N  P  K  K  P  K  R         p.220

          .                                                         g.121962
 AAGCAGGATGAATAA                                                    c.675
 K  Q  D  E  X                                                      p.224

          .         .         .         .         .         .       g.122022
 agaaagggagagcacatgaagctttgctaattataacccctcaccttgaccagagtcatt       c.*60

          .         .         .         .         .         .       g.122082
 gatgtcctgatgtgaaacaacccttgcccaaccccacgaagtctcctatttaatgtgatg       c.*120

          .         .         .         .         .         .       g.122142
 gaagcacaacccctctctcactttgctcctatttctttctgctcttgggatttctggttt       c.*180

          .         .         .         .         .         .       g.122202
 aggaagagatgtggttcaggtgctaaacagtgtgtctgatgatcccttctctcccactca       c.*240

          .         .         .         .         .         .       g.122262
 catttcaacccctgcccttgtttggagctaagggaagggcaaaaggctcagatatgattc       c.*300

          .         .         .         .         .         .       g.122322
 tctatctcttgtgcctgaggcctggagcctaaggagctgtagggtctgaggggcagggga       c.*360

          .         .         .         .         .         .       g.122382
 ggcccatatcttgtttcaggtaaaggacccagtatttcccctccttgtacttttgcctta       c.*420

          .         .         .         .         .         .       g.122442
 ggttctcaagggacaatagtcttcatgttggattctccaacaggctgggtgcatgtatcc       c.*480

          .         .         .         .         .         .       g.122502
 ccctactcctaccctcatctcatccttaaggcccagaggtagcttggacaagccctcctt       c.*540

          .         .         .         .         .         .       g.122562
 ttcataatcatttgggaggcatggctgtaattctttagctttctccacttctgtctccca       c.*600

          .         .         .         .         .         .       g.122622
 catatactaaaattcttaggtactaggctgtgtgtcttgggatcttaagatcaatgaacc       c.*660

          .         .         .         .         .         .       g.122682
 tttccccaatatctagtctttgcaaattctagtagaagatttccacagtgaaatcagtga       c.*720

          .         .         .         .         .         .       g.122742
 gccagaccaactctacatctcctgcctaacctactgcctaagtcattagggctgagggct       c.*780

          .         .         .         .         .         .       g.122802
 cggctgtaggggcttccttaggctgagagtgcccccaggctgacatctgtgttggctttt       c.*840

          .         .         .         .         .         .       g.122862
 gttcagaaccattactctggcacatgctcaatggtatattgcagggaggagaggagtaga       c.*900

          .         .         .         .         .         .       g.122922
 tttagatttgagtaaatgccaatcactttacacatgaaggtgggtgggactttccttcca       c.*960

          .         .         .         .         .         .       g.122982
 ttcatcccttgctctcttggatctgaactcttctggagcctcagctcaggatagctgctg       c.*1020

          .         .         .         .         .         .       g.123042
 gccactcctgtcctgtggattgtgcaggtggcctttcctcccaaaagaaaaggcatcagg       c.*1080

          .         .         .         .         .         .       g.123102
 ctccccaagccccacagctctcctttccaccaaagccaggtttcctggtaaggtcactcg       c.*1140

          .         .         .         .         .         .       g.123162
 aagataagggatggggatgggggctgactgacaaaaaattttagccccaggtctcagtac       c.*1200

          .         .         .         .         .         .       g.123222
 ctggctggggagggggatatttttccttccttaagtagttttacattgccacagtgtgta       c.*1260

          .         .         .         .         .         .       g.123282
 tgtgttcactatataaaatgttcctctgctctttgaaagtaagagtgttgtgtctgtaca       c.*1320

          .         .         .         .         .         .       g.123342
 aatccttttaacatgcattcattggagtaaattctgagtatctactgtgtattggataat       c.*1380

          .         .         .         .         .         .       g.123402
 acaaaagatgtaatgtcatttacctttctgggtagctcttgtttgctcttattcattcca       c.*1440

          .         .         .         .         .         .       g.123462
 ccttacaaatgagaaagccaggcaccaaggacaataatttacctaattatcacaataatt       c.*1500

          .         .         .         .         .         .       g.123522
 tccatttatttagcacctactctgtgccaggtacctatgcaagttgcttaatataaatga       c.*1560

          .         .         .         .         .         .       g.123582
 ttgtatttgacttccaaaataccttacaagctaagtattcttatcaccattttaaaaaaa       c.*1620

          .         .         .         .         .         .       g.123642
 aagggatactgaacctccaaaaacttaaaagctttttcagagttaaacagctagtaagag       c.*1680

          .         .         .         .         .         .       g.123702
 gaaattgcaggatttggagccagctttgtccaactccagagctcatttttttctacttct       c.*1740

          .         .         .         .         .         .       g.123762
 tctccatgatcatttttaagaaaacctttctccctttcagaatggcttgatgatgagagt       c.*1800

          .         .         .         .         .         .       g.123822
 ggttgaaataactttggaactgaaatcaagaactgggtgtcaaatgactgattcagggat       c.*1860

          .         .         .         .         .         .       g.123882
 ataaaggccaagggctctctaaataatatcctgtacactaatctgtctctgtgcttgtca       c.*1920

          .         .         .         .         .         .       g.123942
 gggaattcaacagctaaataaaacctctctgtgcctcagtgtcctcatctggaaaatggg       c.*1980

                                                                    g.123943
 g                                                                  c.*1981

 (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 Zinc finger, C4H2 domain containing 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.