calcium binding protein 4 (CABP4) - coding DNA reference sequence

(used for variant description)

(last modified November 12, 2020)


This file was created to facilitate the description of sequence variants on transcript NM_145200.3 in the CABP4 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_021211.1, covering CABP4 transcript NM_145200.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                   .                g.5017
                                            cataagcagctttatgg       c.-61

 .         .         .         .         .         .                g.5077
 gtcctgaaagccaagggtgcccaggggtgtggtgtctctgagccctgttatccctccccc       c.-1

          .         .         .         .         .         .       g.5137
 ATGACCACAGAGCAGGCAAGGGGGCAGCAGGGCCCAAATCTGGCCATTGGCCGTCAGAAG       c.60
 M  T  T  E  Q  A  R  G  Q  Q  G  P  N  L  A  I  G  R  Q  K         p.20

          .         .         .         .         .         .       g.5197
 CCCCCTGCGGGGGTTGTGACTCCCAAGAGTGATGCAGAGGAGCCCCCGTTGACCAGGAAG       c.120
 P  P  A  G  V  V  T  P  K  S  D  A  E  E  P  P  L  T  R  K         p.40

          .         .         .         .         .         .       g.5257
 AGGAGCAAGAAGGAGAGGGGGCTCCGAGGGTCTCGAAAGCGCACTGGCAGCTCTGGGGAG       c.180
 R  S  K  K  E  R  G  L  R  G  S  R  K  R  T  G  S  S  G  E         p.60

          .         .         .         .         .         .       g.5317
 CAGACAGGCCCCGAGGCCCCGGGGAGCAGCAATAACCCTCCCAGCACTGGAGAGGGGCCG       c.240
 Q  T  G  P  E  A  P  G  S  S  N  N  P  P  S  T  G  E  G  P         p.80

          .         .         .         .         .         .       g.5377
 GCGGGCGCACCCCCTGCATCCCCTGGGCCGGCCTCTTCTCGCCAGTCCCACCGACATCGT       c.300
 A  G  A  P  P  A  S  P  G  P  A  S  S  R  Q  S  H  R  H  R         p.100

          .         .         .         .         .         .       g.5437
 CCTGACTCCCTGCACGACGCTGCTCAGAGGACATACGGGCCCCTGCTCAATCGAGTCTTC       c.360
 P  D  S  L  H  D  A  A  Q  R  T  Y  G  P  L  L  N  R  V  F         p.120

        | 02 .         .         .        | 03.         .         . g.5975
 GGGAAG | GACCGCGAACTGGGCCCCGAGGAGCTAGACG | AGCTTCAGGCCGCCTTCGAGGAG c.420
 G  K   | D  R  E  L  G  P  E  E  L  D  E |   L  Q  A  A  F  E  E   p.140

          .         .         .         .         .         .       g.6035
 TTTGACACTGACCGTGACGGCTACATCAGCCACCGGGAGCTGGGTGACTGCATGCGGACC       c.480
 F  D  T  D  R  D  G  Y  I  S  H  R  E  L  G  D  C  M  R  T         p.160

          .         .         .         .         .         .       g.6095
 CTGGGCTACATGCCCACCGAGATGGAGCTCCTGGAGGTCTCGCAGCACATCAAGATGCGC       c.540
 L  G  Y  M  P  T  E  M  E  L  L  E  V  S  Q  H  I  K  M  R         p.180

   | 04      .         .         .         .         .         .    g.7285
 A | TGGGCGGCCGTGTGGACTTTGAGGAGTTTGTAGAACTGATAGGCCCAAAGCTGAGGGAG    c.600
 M |   G  G  R  V  D  F  E  E  F  V  E  L  I  G  P  K  L  R  E      p.200

          .         .         .         .         .  | 05      .    g.8033
 GAGACGGCGCACATGCTGGGGGTGCGAGAGCTGCGCATCGCCTTCCGAGAG | TTTGACAGG    c.660
 E  T  A  H  M  L  G  V  R  E  L  R  I  A  F  R  E   | F  D  R      p.220

          .         .         .         .         .         .       g.8093
 GACAGGGATGGACGAATTACGGTGGCGGAGCTGCGGGAGGCGGTACCGGCTCTGCTCGGG       c.720
 D  R  D  G  R  I  T  V  A  E  L  R  E  A  V  P  A  L  L  G         p.240

          .         .         .         .         .         .       g.8153
 GAGCCGCTGGCGGGTCCTGAGCTGGACGAGATGCTCCGAGAAGTGGACCTCAATGGGGAT       c.780
 E  P  L  A  G  P  E  L  D  E  M  L  R  E  V  D  L  N  G  D         p.260

          .          | 06        .         .                        g.8325
 GGCACCGTAGACTTTGACG | AGTTTGTGATGATGCTCTCCCGCCACTGA                c.828
 G  T  V  D  F  D  E |   F  V  M  M  L  S  R  H  X                  p.275

          .         .         .         .         .         .       g.8385
 ggctccaggagggaatatctgttgcccctgcggccccagacaccagccagacccaggctg       c.*60

          .         .         .         .         .         .       g.8445
 caggcctcccccaggagcctccaggatggagatggagacccagcagcccccagactactt       c.*120

          .         .         .         .         .         .       g.8505
 ctatccctgaaaacacctggcctcaatgttggcttgttatgttacctgcccaccctcatc       c.*180

          .         .         .         .         .         .       g.8565
 cttacctcctcctactcaagctgcctggagaagacctgctctcagctgcccaccgttcct       c.*240

          .         .         .         .         .         .       g.8625
 cagtgtgagcaagatttgggtctctccagacctctgggaggtagggagttccctggcact       c.*300

          .         .         .         .         .         .       g.8685
 ggcagcattcagtggggaccccccagtggcatgatgaatggagaggatggctggacccct       c.*360

          .         .         .         .         .         .       g.8745
 tccactacttatgtttataattttttttttttttaatgaacttgagccgggtgcagtggc       c.*420

          .         .         .         .         .         .       g.8805
 tcacacctgtaagcccagctgtcagggggcagaagcgggaggatagcttgagcccaggag       c.*480

          .         .         .         .         .         .       g.8865
 tgcaagacctgcctgggcaatatactgagaccccattctccacaaaaaggaaaaataaaa       c.*540

          .         .         .         .         .         .       g.8925
 gacaaaaaaacaaacaaaaaaccaaaaaacccaagtgtaaaaaaagtgagcttgaaagaa       c.*600

          .         .         .         .         .         .       g.8985
 agaaagggatggctccatgtatcaaagacaaagaaatcaaagctggggttgtaagaggga       c.*660

          .         .         .         .         .         .       g.9045
 gctgacgctgtgggggtttcagatctggatggaggcttggccgcctggactcctacaacc       c.*720

          .         .         .         .         .         .       g.9105
 atgagtgacagaagaaccatatgagtctggggagcaagaaacaaaccccccggatatatt       c.*780

          .         .         .         .         .         .       g.9165
 ccagggtctccaaaggctaagatattaatctgtctgcactgaccagtcatagaaagtggc       c.*840

          .         .         .         .         .         .       g.9225
 aaggatacagatgttcagggcccagagtggaaacagctgccctaaagagcctggaactcc       c.*900

          .         .         .         .         .         .       g.9285
 agggcctgcccttcaagcaggcgtgtagtctctctccagggtgtgaaaaactggaaaaaa       c.*960

          .         .         .         .         .         .       g.9345
 accctgccgctcccaaaggggaacttgtgataaaaattacagattattgggctgggagtg       c.*1020

          .         .         .         .         .         .       g.9405
 gtggctcacgcctgtaatcccagcactttgggaggctgaggcgggtgaattacctgaggt       c.*1080

          .         .         .         .         .         .       g.9465
 caggagtttgaggccagcctgaccaacatggtgaaaccccatctctactaaaaatacaaa       c.*1140

          .         .         .         .         .         .       g.9525
 aattaactgggcgaggtagcatgcacctgtaatctcagctactcggaggttgaggcagga       c.*1200

          .         .         .         .         .         .       g.9585
 gaatcgcttgagcccgggaggtggagctgcagtgagctgagatcacaccattgcacccca       c.*1260

          .         .         .         .         .         .       g.9645
 gcctgagcaacagatcgagactccgtctcaaaaacaaaacaaaaaaaccatactgattat       c.*1320

          .         .         .         .         .         .       g.9705
 aaaagtaaagaaaccaccatgaaggagacgagacagagacaaaaacaagaggactggcat       c.*1380

          .         .         .         .         .         .       g.9765
 ctcagtgtacataatacagccgcctaagagaccacaagatacatgcaaataaaagacggc       c.*1440

          .         .         .         .         .         .       g.9825
 taaaaggggaagagagatcaacatgcagtaacaggatagtatgaagagagaaccggaaga       c.*1500

          .         .         .         .         .         .       g.9885
 tttaaaaagtaacccaacaggccaggcgcatggctcatgcctggaatcccagcactttgg       c.*1560

          .         .         .         .         .         .       g.9945
 gaggccaaggtgggtgggttgcttgagctcaggaattcgagaccagcctgggcaacatgg       c.*1620

          .         .         .         .         .         .       g.10005
 tgaaaccctgtctctactaaaaatacaaaaattagccaggcgtggtggtgcttgcatctg       c.*1680

          .         .         .         .         .         .       g.10065
 tggtcccaggtattctacaggctgaggtgggaggatcacttgagcccaggaggcagaggt       c.*1740

          .         .         .         .         .         .       g.10125
 tgcagtgagtcgagatcgcaccactgcactccagcgtgggtaacagagtgagaatccgtc       c.*1800

          .         .         .         .         .         .       g.10185
 aaaaagaaaaaaacaaaccatggcttctgttaaaaaaataaagtatattttatatataca       c.*1860

          .         .         .         .         .         .       g.10245
 cacacacacacacacacacacacagccattggaatgaaaaaataatggataagctaaaca       c.*1920

          .         .         .         .         .         .       g.10305
 gcagattaaacacaatttaaagattaatgaactggaagctatatctaagaaatcacttat       c.*1980

          .         .         .         .         .         .       g.10365
 aatgtaacactgagagacaaaaggatggaaaatattacagggtagttaaaagtcactgga       c.*2040

          .         .         .         .         .         .       g.10425
 aggctgggtgtggtggctcacgcctgtaatcccagcactttgggaggctgagacgggcgg       c.*2100

          .         .         .         .         .         .       g.10485
 gtcacagggtcaggagatcgagaccatcctggctaacacagtgaaaccccatctctacta       c.*2160

          .         .         .         .         .         .       g.10545
 aaaatacaaaaaaaaattagctgggcgtggtggcgggcgcctgtagtcccagctactagg       c.*2220

          .         .         .         .         .         .       g.10605
 gaggctgaggcaagagaatggcgtgaacccaggaggcggagcttgcagtgagccgagatt       c.*2280

          .         .         .         .         .         .       g.10665
 gcaccactgcactccagcctgggctacagagcgagactccgtctcggaaaaaaaaaaaaa       c.*2340

          .         .         .         .         .         .       g.10725
 aaaaggtcactggaagactgggtgtggtggcttatgcctgtaatcccagcattttgggag       c.*2400

          .         .         .         .         .         .       g.10785
 gctaaggcaggaggatcacttgaggccaggagtttgagaccagcctaacagcaagaccct       c.*2460

          .         .         .         .         .         .       g.10845
 gcctcttaaaaaaaataataaaaaaataagctgggtgtagtggctcatgcttgtagttcc       c.*2520

          .         .         .         .         .         .       g.10905
 agctattcaggaggctgaggtgagaggatcatttgagcccaggagttggaggctgcagtg       c.*2580

          .         .         .         .         .         .       g.10965
 atcgtgccactgcactccagccttggtgacagagcaagagaccctgtctcaaagaaaaag       c.*2640

          .         .         .         .         .         .       g.11025
 acagataagtccttgggagtctcagacggaggacatacatagagaatgaacaagaagcaa       c.*2700

          .         .         .         .         .         .       g.11085
 taaccaaagagataatggctgaaaattttccataaagacttccacagacttcaactcccc       c.*2760

          .         .         .         .         .         .       g.11145
 agattgaaggaacaaactgaagtcagagtagggtaaataaaaataaatatatatctggat       c.*2820

          .         .         .         .         .         .       g.11205
 atatcccattgaaaccacagaatataaaaagcaaatcttataaataactggagagaaaag       c.*2880

          .         .         .         .         .         .       g.11265
 tcagattcacggtgttctgtcaaagtgttcatgtagactaagggtggggaaactttctgt       c.*2940

          .         .         .         .         .         .       g.11325
 aaagggctggagaataattattttcagctttgaggctttggtctctgttgcagctgctca       c.*3000

          .         .         .         .         .         .       g.11385
 cgcaactctgctgttgaagtttgtagtgcaaagtcaagtcaacaaatgagtgtggctata       c.*3060

          .         .         .         .         .                 g.11440
 tcagaaattttaataaataacagtaaaacttcatttattgacatggaaatttgaa            c.*3115

 (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 10th nucleotide is indicated by a "." above the sequence. The Calcium binding protein 4 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th 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.

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