Zic family member 1 (ZIC1) - coding DNA reference sequence

(used for variant description)

(last modified September 12, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_003412.3 in the ZIC1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_015886.1, covering ZIC1 transcript NM_003412.3.
Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.5059
  ctatcagtctcgcgctcaccgcccggctgaggaggtgaaagtttctccccaggaagata       c.-661

 .         .         .         .         .         .                g.5119
 aaccgcaaaagacaatattgtgcatgatttgcgccttttctttggctttttctttctttc       c.-601

 .         .         .         .         .         .                g.5179
 ttcacccccccacccacttttttttttttttttttcaaaaagcagagagggaaaaacgga       c.-541

 .         .         .         .         .         .                g.5239
 gagtgaaggagcgaggaggcgagcgtgagagaaaggagagagagagaaaagaaagggcga       c.-481

 .         .         .         .         .         .                g.5299
 ggggctagtggagaagtaaggaggggcgcgctgcgcgaggcggagagagggcgaagcagt       c.-421

 .         .         .         .         .         .                g.5359
 cgcggcactggcgctcacattcctctatgctacaaatccaggaggaagtttttttttagg       c.-361

 .         .         .         .         .         .                g.5419
 gggctgagatgctccatgcctttccccgggcagccttgacgcgcggccctctcggcagag       c.-301

 .         .         .         .         .         .                g.5479
 actgagcggcgagaaagtgcgagccgggccggcagaatctgcctggcgggcgctggagcc       c.-241

 .         .         .         .         .         .                g.5539
 tgcgttactcgcggcccgcagccgtccggctactttgcgtttggcccggccagcgcccgg       c.-181

 .         .         .         .         .         .                g.5599
 gcgcgccgcgccattgcctgcaggctaggacttcgcgaggtgggtcgactccccctccct       c.-121

 .         .         .         .         .         .                g.5659
 cctcctcttcttcctcctcttcctcctcctcttgttcctcctcctcctcccgattttccc       c.-61

 .         .         .         .         .         .                g.5719
 tcctcggctggcgagggtggggggggcgggggaggccggggctcgccccgagcagccacg       c.-1

          .         .         .         .         .         .       g.5779
 ATGCTCCTGGACGCCGGCCCCCAGTACCCAGCGATCGGCGTGACCACCTTTGGCGCGTCC       c.60
 M  L  L  D  A  G  P  Q  Y  P  A  I  G  V  T  T  F  G  A  S         p.20

          .         .         .         .         .         .       g.5839
 CGCCACCACTCCGCGGGCGACGTGGCCGAACGAGACGTGGGCCTGGGCATCAACCCGTTC       c.120
 R  H  H  S  A  G  D  V  A  E  R  D  V  G  L  G  I  N  P  F         p.40

          .         .         .         .         .         .       g.5899
 GCCGACGGCATGGGCGCCTTCAAGCTCAACCCCAGTTCGCACGAGCTGGCTTCGGCCGGC       c.180
 A  D  G  M  G  A  F  K  L  N  P  S  S  H  E  L  A  S  A  G         p.60

          .         .         .         .         .         .       g.5959
 CAGACGGCCTTCACGTCGCAGGCGCCAGGCTACGCGGCTGCTGCGGCCCTGGGCCATCAC       c.240
 Q  T  A  F  T  S  Q  A  P  G  Y  A  A  A  A  A  L  G  H  H         p.80

          .         .         .         .         .         .       g.6019
 CATCACCCGGGCCACGTCGGCTCCTATTCCAGCGCAGCCTTCAACTCCACGCGGGACTTT       c.300
 H  H  P  G  H  V  G  S  Y  S  S  A  A  F  N  S  T  R  D  F         p.100

          .         .         .         .         .         .       g.6079
 CTGTTCCGCAACCGGGGTTTTGGCGACGCGGCGGCGGCAGCCAGCGCACAGCACAGCCTC       c.360
 L  F  R  N  R  G  F  G  D  A  A  A  A  A  S  A  Q  H  S  L         p.120

          .         .         .         .         .         .       g.6139
 TTTGCTGCATCGGCCGGGGGCTTCGGGGGCCCACACGGCCACACGGACGCCGCGGGCCAC       c.420
 F  A  A  S  A  G  G  F  G  G  P  H  G  H  T  D  A  A  G  H         p.140

          .         .         .         .         .         .       g.6199
 CTCCTCTTCCCCGGGCTTCACGAGCAGGCTGCCGGCCACGCGTCGCCTAACGTGGTCAAC       c.480
 L  L  F  P  G  L  H  E  Q  A  A  G  H  A  S  P  N  V  V  N         p.160

          .         .         .         .         .         .       g.6259
 GGGCAGATGAGGCTCGGCTTCTCGGGGGACATGTACCCGCGACCGGAGCAGTACGGCCAG       c.540
 G  Q  M  R  L  G  F  S  G  D  M  Y  P  R  P  E  Q  Y  G  Q         p.180

          .         .         .         .         .         .       g.6319
 GTGACCAGCCCGCGTTCGGAGCACTATGCTGCGCCGCAGCTGCACGGCTACGGGCCCATG       c.600
 V  T  S  P  R  S  E  H  Y  A  A  P  Q  L  H  G  Y  G  P  M         p.200

          .         .         .         .         .         .       g.6379
 AACGTGAACATGGCCGCGCATCACGGCGCCGGCGCCTTCTTCCGCTACATGCGCCAACCC       c.660
 N  V  N  M  A  A  H  H  G  A  G  A  F  F  R  Y  M  R  Q  P         p.220

          .         .         .         .         .         .       g.6439
 ATCAAGCAAGAGCTCATCTGCAAGTGGATCGAGCCCGAGCAGCTGGCCAACCCCAAAAAG       c.720
 I  K  Q  E  L  I  C  K  W  I  E  P  E  Q  L  A  N  P  K  K         p.240

          .         .         .         .         .         .       g.6499
 TCGTGCAACAAAACTTTCAGCACCATGCACGAGCTAGTTACGCACGTCACCGTGGAGCAC       c.780
 S  C  N  K  T  F  S  T  M  H  E  L  V  T  H  V  T  V  E  H         p.260

          .         .         .         .         .         .       g.6559
 GTAGGTGGCCCGGAGCAGAGTAATCACATCTGCTTCTGGGAGGAGTGTCCGCGCGAGGGC       c.840
 V  G  G  P  E  Q  S  N  H  I  C  F  W  E  E  C  P  R  E  G         p.280

          .         .         .         .         .         .       g.6619
 AAGCCCTTCAAAGCCAAATACAAACTGGTTAACCACATCCGCGTGCACACGGGCGAGAAG       c.900
 K  P  F  K  A  K  Y  K  L  V  N  H  I  R  V  H  T  G  E  K         p.300

          .         .         .         .         .         .       g.6679
 CCCTTTCCCTGCCCCTTCCCTGGCTGTGGCAAGGTCTTCGCGCGCTCCGAGAATTTAAAG       c.960
 P  F  P  C  P  F  P  G  C  G  K  V  F  A  R  S  E  N  L  K         p.320

          .         .   | 02     .         .         .         .    g.8162
 ATCCACAAAAGGACGCACACAG | GGGAGAAGCCCTTCAAGTGCGAGTTTGAGGGCTGTGAC    c.1020
 I  H  K  R  T  H  T  G |   E  K  P  F  K  C  E  F  E  G  C  D      p.340

          .         .         .         .         .         .       g.8222
 CGGCGCTTCGCTAACAGCAGCGACCGCAAGAAGCACATGCACGTGCACACGAGCGACAAG       c.1080
 R  R  F  A  N  S  S  D  R  K  K  H  M  H  V  H  T  S  D  K         p.360

          .         .         .         .         .         .       g.8282
 CCCTATCTTTGCAAGATGTGCGACAAGTCCTACACGCATCCCAGTTCGCTGCGCAAACAC       c.1140
 P  Y  L  C  K  M  C  D  K  S  Y  T  H  P  S  S  L  R  K  H         p.380

        | 03 .         .         .         .         .         .    g.9014
 ATGAAG | GTCCACGAATCCTCCTCGCAGGGCTCGCAGCCTTCGCCGGCCGCCAGCTCTGGC    c.1200
 M  K   | V  H  E  S  S  S  Q  G  S  Q  P  S  P  A  A  S  S  G      p.400

          .         .         .         .         .         .       g.9074
 TACGAATCCTCCACGCCTCCCACCATCGTGTCTCCCTCCACAGACAACCCGACCACAAGC       c.1260
 Y  E  S  S  T  P  P  T  I  V  S  P  S  T  D  N  P  T  T  S         p.420

          .         .         .         .         .         .       g.9134
 TCCTTATCGCCCTCCTCCTCCGCAGTCCACCACACAGCCGGCCACAGTGCGCTCTCTTCC       c.1320
 S  L  S  P  S  S  S  A  V  H  H  T  A  G  H  S  A  L  S  S         p.440

          .         .                                               g.9158
 AATTTTAACGAATGGTACGTTTAA                                           c.1344
 N  F  N  E  W  Y  V  X                                             p.447

          .         .         .         .         .         .       g.9218
 aatcagaaacaaaacatcgaacaaaaccctatttaagagactgatcacacacgtatacac       c.*60

          .         .         .         .         .         .       g.9278
 aacattactgaaagaaccctgcgaatcaaaacaacccccacacagaccccgcaatccttt       c.*120

          .         .         .         .         .         .       g.9338
 tttaaaaaatctgccaatagacccaggacgagtaagagaggaagcatcaaccttttaaaa       c.*180

          .         .         .         .         .         .       g.9398
 atttcctttcgctttcattatttttctttttttggcaaaggcttggtacccaaggtgcgg       c.*240

          .         .         .         .         .         .       g.9458
 tagggggtcgagggggaggaggccacctgaccaaatgccgccaaccccgagggccagttt       c.*300

          .         .         .         .         .         .       g.9518
 cttgtcgaattggtacgggctctctggggcttcggcttctttttttctttgttttcttgt       c.*360

          .         .         .         .         .         .       g.9578
 aaatacagaattattagcttaaaactgtactgttgaattctgtaaatagttatatctcgg       c.*420

          .         .         .         .         .         .       g.9638
 ttggagcgggtgggtgggattgtggcgttgtggtctttgcattgggggaggggggaggga       c.*480

          .         .         .         .         .         .       g.9698
 ccggatgggcggggggagggggagggggaggggtgggcggccgaaagccaactgtttgta       c.*540

          .         .         .         .         .         .       g.9758
 ctgaatggcaagaatgttctagtaaatgtgtaccaaaatgtgaattactttgtacgatta       c.*600

          .         .         .         .         .         .       g.9818
 cagtctccacgtcgacctaacccaatattattggtattaatgtgctttttttgtataaag       c.*660

          .         .         .         .         .         .       g.9878
 tgcaaacatttcgtcccaaagtctaagtactttagtgcagtaaaatgttgtttcatgtcc       c.*720

          .         .         .         .         .         .       g.9938
 tgtcaagaattcgtatagtacgagcctggatctgcgtgtcaaactgttccatttgtttat       c.*780

          .         .         .         .         .         .       g.9998
 gtaaagtgatattaaaaaagatataaactataactgtccgttacttttggcaaaagatac       c.*840

          .         .         .         .         .         .       g.10058
 aaccacataatgtatataattcctagtttccatatttatccgcatgtaaagggccggttt       c.*900

          .         .         .         .         .         .       g.10118
 atccatgttacagctcttcaatatttatggctagaagaactcgtatgtacactttagttt       c.*960

          .         .         .         .         .         .       g.10178
 ccagaactgtttggtaacctttcgtaccttattaaagattcttaaatctccgtgattgtg       c.*1020

          .         .         .         .         .         .       g.10238
 gtaggaatttcttcttcacccaccagcaacctgctgcctcttctgccagtcttaaagggt       c.*1080

          .         .         .         .         .         .       g.10298
 ctccagaaaagctctccagtctcccttgccttccctttctgtcactgcaggtcgtataaa       c.*1140

          .         .         .         .         .         .       g.10358
 cgtgataaatgaatgctaccctgctggctctccgagagagtgtaattagtatttatatca       c.*1200

          .         .         .         .         .         .       g.10418
 aaatttatgaaacaaattttcggccgcagtataatttaaatgacctttgcagatgtagaa       c.*1260

          .         .         .         .         .         .       g.10478
 taacaaccataaaaataacaggaatagattgcacaggcgacatcaatattaatgtagacg       c.*1320

          .         .         .         .         .         .       g.10538
 aattgtcagaagctcaggggctcgctctgcaacattgcaaatgaacttgcagccgagggt       c.*1380

          .         .         .         .         .         .       g.10598
 tccgctgccccctagattaaattccccgggctgaaactgagttgcagatttacaatatca       c.*1440

          .         .         .         .         .         .       g.10658
 tattttaaattgctgtcttcaattaaaccatttatgaccataactaattttcaggatgtc       c.*1500

          .         .         .         .         .         .       g.10718
 gatgcatgcttttccaggccttccttctttgtacaaaagtaaatgtccataaagcgtttc       c.*1560

          .         .         .         .         .         .       g.10778
 acttatattcttcaaacatgatgctaatttaaattaattacttcctatgatatgttatta       c.*1620

          .         .         .         .         .         .       g.10838
 ttcctatgattttgccactgttattagttctctcaaaaatacatctagggaagaggatta       c.*1680

          .         .         .         .         .         .       g.10898
 ttttaagtaatttgattatctttctatctcttttatttatttctcatttacttaagaaat       c.*1740

          .         .         .         .         .         .       g.10958
 tcgttccattggttggcattgatacagtaaatttgtaaatgaggagacaatataaaaaat       c.*1800

          .         .         .         .         .         .       g.11018
 ctaaattacttgtgcttaatgactgtagcagaatgccttttctctaaatcagattgtctt       c.*1860

          .         .         .         .         .         .       g.11078
 tcttgcagtttagtttgatagatttgcaagctatgctgcttccatgaagttagctgcgct       c.*1920

          .         .         .         .         .         .       g.11138
 ggtaggaacgcaggcttctttgtctctggttgtagcttgcatgatcgccccattaggcag       c.*1980

          .         .         .         .         .         .       g.11198
 acaacgtagccggagatcacaaatcaggcccttggctgtagttgctagtgtgtggaggtg       c.*2040

          .         .         .         .         .         .       g.11258
 cagagcaggtggcagaaactgacctcactgggcaagggtggccatggacctgattcttta       c.*2100

          .         .         .         .         .         .       g.11318
 atgcactctatgtgttcaggaagccacaggccatatttgactctgagaaagaaaacaaga       c.*2160

          .         .         .         .         .         .       g.11378
 ggaaaaaccccacaaagtataacaaccccttaagatacatctattttaaagtgaaattaa       c.*2220

          .         .         .         .         .         .       g.11438
 tttttcagtttataccattggccaattacaagataaaaatgttcaatttctttaagaatc       c.*2280

          .         .         .         .         .         .       g.11498
 ctttgttgacttgtcttttcatctcttgctatttatatttgtcactgtttcaacaaagtc       c.*2340

          .         .         .         .         .         .       g.11558
 ttatttgctgaggaaggactttgctgcacttactgtaccacatcaaacactggggagggt       c.*2400

          .         .         .         .         .         .       g.11618
 ggtgtttaactttttaaaaaatgttattctgattataacaataatattggcttttttcat       c.*2460

          .         .         .         .         .         .       g.11678
 gaaaagagcgccaccttgcaaggtttagtgagatttatggaagttgaatacctaagcagg       c.*2520

          .         .         .         .         .         .       g.11738
 aattgctgctagctccaaaaatttgcgaagcaaaagctagccccaattggtttggaagtt       c.*2580

          .         .         .         .         .         .       g.11798
 tgaaactgattaacagatttgcatttgaagtgactccagacattaggtccagacattagt       c.*2640

          .         .         .         .         .         .       g.11858
 taaaaatagaaagaggaataaagacatctcttctctctagaaaagataacaccacaatta       c.*2700

          .         .         .         .         .         .       g.11918
 ataatccttcccactttcattgagatcagcttgtctgataacctgatatgagtgtgataa       c.*2760

          .         .         .         .         .         .       g.11978
 tgataaacatgataatagtggtacttttgtaattttgctggtgcatttaagaagatagta       c.*2820

          .         .         .         .         .         .       g.12038
 aatgatgagttcatcttttcttcgaacattcctattcctagatgtagtttacctcaaatt       c.*2880

          .         .         .         .         .         .       g.12098
 gggaattataactgtctaatttttgttgtgtacctgatgccccttttgctttaataccac       c.*2940

          .         .         .         .         .         .       g.12158
 agtgtaacaattaaatatcacactatgacatatgatttaagtaggatattttaaagataa       c.*3000

          .         .         .         .         .         .       g.12218
 attttaggggtaaatgtttacttcaaaatgactccatatttcaaatatctgtttagactg       c.*3060

          .         .         .         .         .         .       g.12278
 tgaaggccaaataatttttaagaaaacatttgaagagtagtgtgtttgcatttgtgaata       c.*3120

          .         .         .         .                           g.12326
 atcttactcacagcaagtaaacgtaataaaagccaacatttaagccaa                   c.*3168

 (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 Zic family member 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.