gremlin 1 (GREM1) - coding DNA reference sequence

(used for variant description)

(last modified September 5, 2013)

This file was created to facilitate the description of sequence variants on transcript NM_013372.6 in the GREM1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_033791.1, covering GREM1 transcript NM_013372.6.

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

 (upstream sequence)
                               .         .         .                g.5039
                      actcggtgcgccttccgcggaccgggcgacccagtgcac       c.-121

 .         .         .         .         .         .                g.5099
 ggccgccgcgtcactctcggtcccgctgaccccgcgccgagccccggcggctctggccgc       c.-61

 .         .         .         .         .         .         | 02    g.17687
 ggccgcactcagcgccacgcgtcgaaagcgcaggccccgaggacccgccgcactgacag | t    c.-1

          .         .         .         .         .         .       g.17747
 ATGAGCCGCACAGCCTACACGGTGGGAGCCCTGCTTCTCCTCTTGGGGACCCTGCTGCCG       c.60
 M  S  R  T  A  Y  T  V  G  A  L  L  L  L  L  G  T  L  L  P         p.20

          .         .         .         .         .         .       g.17807
 GCTGCTGAAGGGAAAAAGAAAGGGTCCCAAGGTGCCATCCCCCCGCCAGACAAGGCCCAG       c.120
 A  A  E  G  K  K  K  G  S  Q  G  A  I  P  P  P  D  K  A  Q         p.40

          .         .         .         .         .         .       g.17867
 CACAATGACTCAGAGCAGACTCAGTCGCCCCAGCAGCCTGGCTCCAGGAACCGGGGGCGG       c.180
 H  N  D  S  E  Q  T  Q  S  P  Q  Q  P  G  S  R  N  R  G  R         p.60

          .         .         .         .         .         .       g.17927
 GGCCAAGGGCGGGGCACTGCCATGCCCGGGGAGGAGGTGCTGGAGTCCAGCCAAGAGGCC       c.240
 G  Q  G  R  G  T  A  M  P  G  E  E  V  L  E  S  S  Q  E  A         p.80

          .         .         .         .         .         .       g.17987
 CTGCATGTGACGGAGCGCAAATACCTGAAGCGAGACTGGTGCAAAACCCAGCCGCTTAAG       c.300
 L  H  V  T  E  R  K  Y  L  K  R  D  W  C  K  T  Q  P  L  K         p.100

          .         .         .         .         .         .       g.18047
 CAGACCATCCACGAGGAAGGCTGCAACAGTCGCACCATCATCAACCGCTTCTGTTACGGC       c.360
 Q  T  I  H  E  E  G  C  N  S  R  T  I  I  N  R  F  C  Y  G         p.120

          .         .         .         .         .         .       g.18107
 CAGTGCAACTCTTTCTACATCCCCAGGCACATCCGGAAGGAGGAAGGTTCCTTTCAGTCC       c.420
 Q  C  N  S  F  Y  I  P  R  H  I  R  K  E  E  G  S  F  Q  S         p.140

          .         .         .         .         .         .       g.18167
 TGCTCCTTCTGCAAGCCCAAGAAATTCACTACCATGATGGTCACACTCAACTGCCCTGAA       c.480
 C  S  F  C  K  P  K  K  F  T  T  M  M  V  T  L  N  C  P  E         p.160

          .         .         .         .         .         .       g.18227
 CTACAGCCACCTACCAAGAAGAAGAGAGTCACACGTGTGAAGCAGTGTCGTTGCATATCC       c.540
 L  Q  P  P  T  K  K  K  R  V  T  R  V  K  Q  C  R  C  I  S         p.180

          .                                                         g.18242
 ATCGATTTGGATTAA                                                    c.555
 I  D  L  D  X                                                      p.184

          .         .         .         .         .         .       g.18302
 gccaaatccaggtgcacccagcatgtcctaggaatgcagccccaggaagtcccagaccta       c.*60

          .         .         .         .         .         .       g.18362
 aaacaaccagattcttacttggcttaaacctagaggccagaagaacccccagctgcctcc       c.*120

          .         .         .         .         .         .       g.18422
 tggcaggagcctgcttgtgcgtagttcgtgtgcatgagtgtggatgggtgcctgtgggtg       c.*180

          .         .         .         .         .         .       g.18482
 tttttagacaccagagaaaacacagtctctgctagagagcactccctattttgtaaacat       c.*240

          .         .         .         .         .         .       g.18542
 atctgctttaatggggatgtaccagaaacccacctcaccccggctcacatctaaaggggc       c.*300

          .         .         .         .         .         .       g.18602
 ggggccgtggtctggttctgactttgtgtttttgtgccctcctggggaccagaatctcct       c.*360

          .         .         .         .         .         .       g.18662
 ttcggaatgaatgttcatggaagaggctcctctgagggcaagagacctgttttagtgctg       c.*420

          .         .         .         .         .         .       g.18722
 cattcgacatggaaaagtccttttaacctgtgcttgcatcctcctttcctcctcctcctc       c.*480

          .         .         .         .         .         .       g.18782
 acaatccatctcttcttaagttgatagtgactatgtcagtctaatctcttgtttgccaag       c.*540

          .         .         .         .         .         .       g.18842
 gttcctaaattaattcacttaaccatgatgcaaatgtttttcattttgtgaagaccctcc       c.*600

          .         .         .         .         .         .       g.18902
 agactctgggagaggctggtgtgggcaaggacaagcaggatagtggagtgagaaagggag       c.*660

          .         .         .         .         .         .       g.18962
 ggtggagggtgaggccaaatcaggtccagcaaaagtcagtagggacattgcagaagcttg       c.*720

          .         .         .         .         .         .       g.19022
 aaaggccaataccagaacacaggctgatgcttctgagaaagtcttttcctagtatttaac       c.*780

          .         .         .         .         .         .       g.19082
 agaacccaagtgaacagaggagaaatgagattgccagaaagtgattaactttggccgttg       c.*840

          .         .         .         .         .         .       g.19142
 caatctgctcaaacctaacaccaaactgaaaacataaatactgaccactcctatgttcgg       c.*900

          .         .         .         .         .         .       g.19202
 acccaagcaagttagctaaaccaaaccaactcctctgctttgtccctcaggtggaaaaga       c.*960

          .         .         .         .         .         .       g.19262
 gaggtagtttagaactctctgcataggggtgggaattaatcaaaaacctcagaggctgaa       c.*1020

          .         .         .         .         .         .       g.19322
 attcctaatacctttcctttatcgtggttatagtcagctcatttccattccactatttcc       c.*1080

          .         .         .         .         .         .       g.19382
 cataatgcttctgagagccactaacttgattgataaagatcctgcctctgctgagtgtac       c.*1140

          .         .         .         .         .         .       g.19442
 ctgacagtagtctaagatgagagagtttagggactactctgttttagcaagagatatttt       c.*1200

          .         .         .         .         .         .       g.19502
 gggggtctttttgttttaactattgtcaggagattgggctaaagagaagacgacgagagt       c.*1260

          .         .         .         .         .         .       g.19562
 aaggaaataaagggaattgcctctggctagagagtagttaggtgttaatacctggtagag       c.*1320

          .         .         .         .         .         .       g.19622
 atgtaagggatatgacctccctttctttatgtgctcactgaggatctgaggggaccctgt       c.*1380

          .         .         .         .         .         .       g.19682
 taggagagcatagcatcatgatgtattagctgttcatctgctactggttggatggacata       c.*1440

          .         .         .         .         .         .       g.19742
 actattgtaactattcagtatttactggtaggcactgtcctctgattaaacttggcctac       c.*1500

          .         .         .         .         .         .       g.19802
 tggcaatggctacttaggattgatctaagggccaaagtgcagggtgggtgaactttattg       c.*1560

          .         .         .         .         .         .       g.19862
 tactttggatttggttaacctgttttcttcaagcctgaggttttatatacaaactccctg       c.*1620

          .         .         .         .         .         .       g.19922
 aatactctttttgccttgtatcttctcagcctcctagccaagtcctatgtaatatggaaa       c.*1680

          .         .         .         .         .         .       g.19982
 acaaacactgcagacttgagattcagttgccgatcaaggctctggcattcagagaaccct       c.*1740

          .         .         .         .         .         .       g.20042
 tgcaactcgagaagctgtttttatttcgtttttgttttgatccagtgctctcccatctaa       c.*1800

          .         .         .         .         .         .       g.20102
 caactaaacaggagccatttcaaggcgggagatattttaaacacccaaaatgttgggtct       c.*1860

          .         .         .         .         .         .       g.20162
 gattttcaaacttttaaactcactactgatgattctcacgctaggcgaatttgtccaaac       c.*1920

          .         .         .         .         .         .       g.20222
 acatagtgtgtgtgttttgtatacactgtatgaccccaccccaaatctttgtattgtcca       c.*1980

          .         .         .         .         .         .       g.20282
 cattctccaacaataaagcacagagtggatttaattaagcacacaaatgctaaggcagaa       c.*2040

          .         .         .         .         .         .       g.20342
 ttttgagggtgggagagaagaaaagggaaagaagctgaaaatgtaaaaccacaccaggga       c.*2100

          .         .         .         .         .         .       g.20402
 ggaaaaatgacattcagaaccagcaaacactgaatttctcttgttgttttaactctgcca       c.*2160

          .         .         .         .         .         .       g.20462
 caagaatgcaatttcgttaacggagatgacttaagttggcagcagtaatcttcttttagg       c.*2220

          .         .         .         .         .         .       g.20522
 agcttgtaccacagtcttgcacataagtgcagatttggctcaagtaaagagaatttcctc       c.*2280

          .         .         .         .         .         .       g.20582
 aacactaacttcactgggataatcagcagcgtaactaccctaaaagcatatcactagcca       c.*2340

          .         .         .         .         .         .       g.20642
 aagagggaaatatctgttcttcttactgtgcctatattaagactagtacaaatgtggtgt       c.*2400

          .         .         .         .         .         .       g.20702
 gtcttccaactttcattgaaaatgccatatctataccatattttattcgagtcactgatg       c.*2460

          .         .         .         .         .         .       g.20762
 atgtaatgatatattttttcattattatagtagaatatttttatggcaagatatttgtgg       c.*2520

          .         .         .         .         .         .       g.20822
 tcttgatcatacctattaaaataatgccaaacaccaaatatgaattttatgatgtacact       c.*2580

          .         .         .         .         .         .       g.20882
 ttgtgcttggcattaaaagaaaaaaacacacatcctggaagtctgtaagttgttttttgt       c.*2640

          .         .         .         .         .         .       g.20942
 tactgtaggtcttcaaagttaagagtgtaagtgaaaaatctggaggagaggataatttcc       c.*2700

          .         .         .         .         .         .       g.21002
 actgtgtggaatgtgaatagttaaatgaaaagttatggttatttaatgtaattattactt       c.*2760

          .         .         .         .         .         .       g.21062
 caaatcctttggtcactgtgatttcaagcatgttttctttttctcctttatatgactttc       c.*2820

          .         .         .         .         .         .       g.21122
 tctgagttgggcaaagaagaagctgacacaccgtatgttgttagagtcttttatctggtc       c.*2880

          .         .         .         .         .         .       g.21182
 aggggaaacaaaatcttgacccagctgaacatgtcttcctgagtcagtgcctgaatcttt       c.*2940

          .         .         .         .         .         .       g.21242
 attttttaaattgaatgttccttaaaggttaacatttctaaagcaatattaagaaagact       c.*3000

          .         .         .         .         .         .       g.21302
 ttaaatgttattttggaagacttacgatgcatgtatacaaacgaatagcagataatgatg       c.*3060

          .         .         .         .         .         .       g.21362
 actagttcacacataaagtccttttaaggagaaaatctaaaatgaaaagtggataaacag       c.*3120

          .         .         .         .         .         .       g.21422
 aacatttataagtgatcagttaatgcctaagagtgaaagtagttctattgacattcctca       c.*3180

          .         .         .         .         .         .       g.21482
 agatatttaatatcaactgcattatgtattatgtctgcttaaatcatttaaaaacggcaa       c.*3240

          .         .         .         .         .         .       g.21542
 agaattatatagactatgaggtaccttgctgtgtaggaggatgaaaggggagttgatagt       c.*3300

          .         .         .         .         .         .       g.21602
 ctcataaaactaatttggcttcaagtttcatgaatctgtaactagaatttaattttcacc       c.*3360

          .         .         .         .         .         .       g.21662
 ccaataatgttctatatagcctttgctaaagagcaactaataaattaaacctattctttc       c.*3420

                                                                    g.21666
 tgtg                                                               c.*3424

 (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 Gremlin 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.