inhibitor of DNA binding 4, dominant negative helix-loop-helix protein (ID4) - coding DNA reference sequence

(used for variant description)

(last modified October 14, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_001546.3 in the ID4 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000006.11, covering ID4 transcript NM_001546.3.

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

 (upstream sequence)
                                         .         .                g.5025
                                    gagagcgtagtggaggaggcgcggt       c.-361

 .         .         .         .         .         .                g.5085
 tgtgagtagtaccgggagtggggtgatcccgggctaggggagcgcggcggccgcgatcgg       c.-301

 .         .         .         .         .         .                g.5145
 gcttagtcggagctccgaagggagtgactaggacacccgggtgggctacttttcttccgg       c.-241

 .         .         .         .         .         .                g.5205
 tgcttttgctttttttttcctttgggctcgggctgagtgtcgcccactgagcaaagattc       c.-181

 .         .         .         .         .         .                g.5265
 cctcgtaaaacccagagcgaccctcccgtcaattgttgggctcgggagtgtcgcggtgcc       c.-121

 .         .         .         .         .         .                g.5325
 ccgagcgcgccgggcgcggaggcaaagggagcggagccggccgcggacggggcccggagc       c.-61

 .         .         .         .         .         .                g.5385
 ttgcctgcctccctcgctcgccccagcgggttcgctcgcgtagagcgcagggcgcgcgcg       c.-1

          .         .         .         .         .         .       g.5445
 ATGAAGGCGGTGAGCCCGGTGCGCCCCTCGGGCCGCAAGGCGCCGTCGGGCTGCGGCGGC       c.60
 M  K  A  V  S  P  V  R  P  S  G  R  K  A  P  S  G  C  G  G         p.20

          .         .         .         .         .         .       g.5505
 GGGGAGCTGGCGCTGCGCTGCCTGGCCGAGCACGGCCACAGCCTGGGTGGCTCCGCAGCC       c.120
 G  E  L  A  L  R  C  L  A  E  H  G  H  S  L  G  G  S  A  A         p.40

          .         .         .         .         .         .       g.5565
 GCGGCGGCGGCGGCGGCGGCAGCGCGCTGTAAGGCGGCCGAGGCGGCGGCCGACGAGCCG       c.180
 A  A  A  A  A  A  A  A  R  C  K  A  A  E  A  A  A  D  E  P         p.60

          .         .         .         .         .         .       g.5625
 GCGCTGTGCCTGCAGTGCGATATGAACGACTGCTATAGCCGCCTGCGGAGGCTGGTGCCC       c.240
 A  L  C  L  Q  C  D  M  N  D  C  Y  S  R  L  R  R  L  V  P         p.80

          .         .         .         .         .         .       g.5685
 ACCATCCCGCCCAACAAGAAAGTCAGCAAAGTGGAGATCCTGCAGCACGTTATCGACTAC       c.300
 T  I  P  P  N  K  K  V  S  K  V  E  I  L  Q  H  V  I  D  Y         p.100

          .         .         .         .         .         .       g.5745
 ATCCTGGACCTGCAGCTGGCGCTGGAGACGCACCCGGCCCTGCTGAGGCAGCCACCACCG       c.360
 I  L  D  L  Q  L  A  L  E  T  H  P  A  L  L  R  Q  P  P  P         p.120

          .         .         .         .         .         .       g.5805
 CCCGCGCCGCCACACCACCCGGCCGGGACCTGTCCAGCCGCGCCGCCGCGGACCCCGCTC       c.420
 P  A  P  P  H  H  P  A  G  T  C  P  A  A  P  P  R  T  P  L         p.140

          .         .  | 02      .         .         .         .    g.6253
 ACTGCGCTCAACACCGACCCG | GCCGGCGCGGTGAACAAGCAGGGCGACAGCATTCTGTGC    c.480
 T  A  L  N  T  D  P   | A  G  A  V  N  K  Q  G  D  S  I  L  C      p.160

                                                                g.6259
 CGCTGA |                                                          c.487
 R  X                                                            p.161

          .     | 03   .         .         .         .         .    g.6886
 gccgcgctgtccag | gtgtgcggccgcctgagcccgagccaggagcactagagagggaggg    c.*60

          .         .         .         .         .         .       g.6946
 ggaagagcagaagttagagaaaaaaagccaccggaggaaaggaaaaaacatcggccaacc       c.*120

          .         .         .         .         .         .       g.7006
 tagaaacgttttcattcgtcattccaagagagagagaggaaagaaaaatacaactttcat       c.*180

          .         .         .         .         .         .       g.7066
 tctttctttgcacgttcataaacattctacatacgtattctcttttgtctcttcatttat       c.*240

          .         .         .         .         .         .       g.7126
 aactgctgtgaattgtacatttctgtgttttttggaggtgcagttaaacttttaagctta       c.*300

          .         .         .         .         .         .       g.7186
 agtgtgacaggactgataaatagaagatcaagagtagatccgactttagaagcctacttt       c.*360

          .         .         .         .         .         .       g.7246
 gtgaccaaggagctcaatttttgttttgaagctttactaatctaccagagcattgtagat       c.*420

          .         .         .         .         .         .       g.7306
 attttttttttacatctattgtttaaaatagatgattataacggggcagagaactttctt       c.*480

          .         .         .         .         .         .       g.7366
 ttctctgcaagaatgttacatattgtatagataaatgagtgacatttcataccatgtata       c.*540

          .         .         .         .         .         .       g.7426
 tatagagatgttctataagtgtgagaaagtatatgctttaatagatactgtaattataag       c.*600

          .         .         .         .         .         .       g.7486
 atatttttaattaaatatttttttgtaaatattatgtgtgtgtttttttttaatctatgg       c.*660

          .         .         .         .         .         .       g.7546
 gaatatttcttttggaaaatcatttttcagctcaattacagagctcttgatatcttgaat       c.*720

          .         .         .         .         .         .       g.7606
 gtcttttctgtttggcctggctcttaatttgcttttgttttgcccagtatagactcggaa       c.*780

          .         .         .         .         .         .       g.7666
 gtaacagttatagctagtggtcttgcatgattgcatgagatgtttaatcacaaattaaac       c.*840

          .         .         .         .         .         .       g.7726
 ttgttctgagtccattcaaatgtgtttttttaaatgtagattgaaatctttgtatttgaa       c.*900

          .         .         .         .         .         .       g.7786
 gcatacatgttgaaaatacaccttatcagtttttaagtacagggttttatagtgtaatat       c.*960

          .         .         .         .         .         .       g.7846
 atacagagtaagtgtttgtttttgtttttcaactgaggtcaaaatggattctgaatgatt       c.*1020

          .         .         .         .         .         .       g.7906
 ttgcatatgggatgaggaaatgcttggatccttaaggagtttacgaaatctgctgtttta       c.*1080

          .         .         .         .         .         .       g.7966
 tcaaagtgaaaaaaaattgcttattactcttcattttacactaaagcttaatgtcactaa       c.*1140

          .         .         .         .         .         .       g.8026
 gtttcatgtctgtacagattatttaaatcatggaaatgaaaaaaatgttctctgcttgct       c.*1200

          .         .         .         .         .         .       g.8086
 accaaaggacaaactcttggaaatgaacactttctgctttccttcctccaaagaattaat       c.*1260

          .         .         .         .         .         .       g.8146
 aggcaacagtgggagaaaaaaaaggcataatggcaaatccttcaagcagggataaaagtc       c.*1320

          .         .         .         .         .         .       g.8206
 gatcttcaaacattaacttaagcagaccaaaaattctgatgaccgcatctagattatttt       c.*1380

          .         .         .         .         .         .       g.8266
 tttataaaaatgattttcactatagctatgttacgctaagctactgtccaatctcttgtg       c.*1440

          .         .         .         .         .         .       g.8326
 atgtgtaacttttacatgtgaatattaaagtagatttctctgtcttgtactgtgatttct       c.*1500

          .         .         .         .         .         .       g.8386
 ggtctcatttctttaaaaccttactcttatttttcttttaaggctcttttttctccttaa       c.*1560

          .         .         .         .         .         .       g.8446
 ggaaggtaatattttctaggttagataggactatcagggtttgtgaacattatgcattta       c.*1620

          .         .         .         .         .         .       g.8506
 atgttatgggtactttacacacaagttagatggaatttttagagtgaaagaattaagtag       c.*1680

          .         .         .         .         .         .       g.8566
 gatttaattgggtgctttgtaaatagtcaactgtgtgtataacgtggtctgtttgatttt       c.*1740

          .         .         .         .         .         .       g.8626
 taaaaggaaaggatttgtttcagattatacaagaataaaagtattatagacccaagggac       c.*1800

          .         .         .         .         .         .       g.8686
 ttcttatgaggtcaaattcagatatttatatgaatatgaaataccatggtccctagtagt       c.*1860

          .         .         .         .         .         .       g.8746
 cagttgaagtggcaatgtctaaacagaaatgaacaaaactaatgctagcaggttaaaatc       c.*1920

          .         .         .         .         .         .       g.8806
 aatcaaaatgtttaaaaattgattctgtcctcagcatgttatttcctcagctctgataat       c.*1980

          .         .         .         .         .         .       g.8866
 ttactggtcttgagtattttgagaatttgatgttgaacgttataaagtcaaagaactgct       c.*2040

          .         .         .         .         .         .       g.8926
 tgtttagatgaggtttatttttatttttgatattattcattcttgtcacacatcaagaag       c.*2100

          .         .         .         .         .         .       g.8986
 aaaacactagagtgctgctggaattccaaatctgaagaattctaacgactgcattctttg       c.*2160

          .         .         .         .         .         .       g.9046
 ttattaaaaagggcacaatccttcctttttatttggcagtttaatttcagtaggaagcat       c.*2220

          .         .         .         .         .         .       g.9106
 gtcacatgtgcactgttggttagaattatgcatctgtcatgcctgactgctgaaccctac       c.*2280

          .         .         .         .         .         .       g.9166
 ctaagccttttggcgcagtttaaaacttatactggtggactgtgaacctcaaaacaaatg       c.*2340

          .         .         .         .         .         .       g.9226
 ggtatttttgggttttgaggatagatgttactccttaaagtttgtatttggggcatgaaa       c.*2400

          .         .         .         .         .         .       g.9286
 aactactgaaagaagaaaagtgctacagatactacatttcaaagagttggcattttccct       c.*2460

          .         .         .         .         .         .       g.9346
 ttggccactcaagcagcatttgatgtatctaaagaaacaaagtcattgtttattttttaa       c.*2520

          .         .         .         .         .         .       g.9406
 aaaattatatgcagttgtacaagatactacattccattgaaatgttggctatgtcctaac       c.*2580

          .         .         .         .         .         .       g.9466
 caggcaaccagataacaaaaacattttgagtcttttatctaggtagttctaattattcag       c.*2640

          .         .         .         .         .         .       g.9526
 ctacttagtttaacaaaggaaaatatcctgacttctctcatttcatttgtagacttttca       c.*2700

          .         .         .         .         .         .       g.9586
 ttgtataggcacaaccaaagagtcagactggtttaaaactccagaaggaaaaaaagtatc       c.*2760

          .         .         .         .         .         .       g.9646
 ccacacagtggatgttgtttctaagaatgctacaaaatcctgacatctcagacatctcaa       c.*2820

          .         .         .         .         .         .       g.9706
 tgttaaaggaagaaaaaaaataccttttcatttcaaagaactaatatactttgatattgt       c.*2880

          .         .         .         .         .         .       g.9766
 gtaaaccttactcaagtttattgtcaagctttaactgcctttttagaactttttaaaatt       c.*2940

          .         .         .         .         .         .       g.9826
 tcgagcccacaaatctattgtattagttgccttctataacaataaatcttcactgagcaa       c.*3000

                                                                    g.9831
 aaggc                                                              c.*3005

 (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 Inhibitor of DNA binding 4, dominant negative helix-loop-helix protein 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.