excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) (ERCC1) - coding DNA reference sequence

(used for variant description)

(last modified July 8, 2020)

This file was created to facilitate the description of sequence variants on transcript NM_001983.3 in the ERCC1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_015839.2, covering ERCC1 transcript NM_001983.3.

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

 (upstream sequence)
                                         .         .                g.5026
                                   ccggaagtgctgcgagccctgggcca       c.-121

 .         .         .         .         .         .                g.5086
 cgctggccgtgctggcagtgggccgcctcgatccctctgcagtctttcccttgaggctcc       c.-61

 .         .         .         .         .         .   | 02         g.5545
 aagaccagcaggtgaggcctcgcggcgctgaaaccgtgaggcccggaccacag | gctccag    c.-1

          .         .         .         .         .         .       g.5605
 ATGGACCCTGGGAAGGACAAAGAGGGGGTGCCCCAGCCCTCAGGGCCGCCAGCAAGGAAG       c.60
 M  D  P  G  K  D  K  E  G  V  P  Q  P  S  G  P  P  A  R  K         p.20

          .         .         .         .      | 03  .         .    g.7541
 AAATTTGTGATACCCCTCGACGAGGATGAGGTCCCTCCTGGAGTG | GCCAAGCCCTTATTC    c.120
 K  F  V  I  P  L  D  E  D  E  V  P  P  G  V   | A  K  P  L  F      p.40

          .         .         .         .         .         .       g.7601
 CGATCTACACAGAGCCTTCCCACTGTGGACACCTCGGCCCAGGCGGCCCCTCAGACCTAC       c.180
 R  S  T  Q  S  L  P  T  V  D  T  S  A  Q  A  A  P  Q  T  Y         p.60

          .         .         .         .         .         .       g.7661
 GCCGAATATGCCATCTCACAGCCTCTGGAAGGGGCTGGGGCCACGTGCCCCACAGGGTCA       c.240
 A  E  Y  A  I  S  Q  P  L  E  G  A  G  A  T  C  P  T  G  S         p.80

          .         .         .         .         .         .       g.7721
 GAGCCCCTGGCAGGAGAGACGCCCAACCAGGCCCTGAAACCCGGGGCAAAATCCAACAGC       c.300
 E  P  L  A  G  E  T  P  N  Q  A  L  K  P  G  A  K  S  N  S         p.100

          .         .  | 04      .         .         .         .    g.8531
 ATCATTGTGAGCCCTCGGCAG | AGGGGCAATCCCGTACTGAAGTTCGTGCGCAATGTGCCC    c.360
 I  I  V  S  P  R  Q   | R  G  N  P  V  L  K  F  V  R  N  V  P      p.120

          .         .         .         .         .         .       g.8591
 TGGGAATTTGGCGACGTAATTCCCGACTATGTGCTGGGCCAGAGCACCTGTGCCCTGTTC       c.420
 W  E  F  G  D  V  I  P  D  Y  V  L  G  Q  S  T  C  A  L  F         p.140

       | 05  .         .         .         .         .         .    g.9777
 CTCAG | CCTCCGCTACCACAACCTGCACCCAGACTACATCCATGGGCGGCTGCAGAGCCTG    c.480
 L  S  |  L  R  Y  H  N  L  H  P  D  Y  I  H  G  R  L  Q  S  L      p.160

          .         .         .         .      | 06  .         .    g.12037
 GGGAAGAACTTCGCCTTGCGGGTCCTGCTTGTCCAGGTGGATGTG | AAAGATCCCCAGCAG    c.540
 G  K  N  F  A  L  R  V  L  L  V  Q  V  D  V   | K  D  P  Q  Q      p.180

          .         .         .         .         .         .       g.12097
 GCCCTCAAGGAGCTGGCTAAGATGTGTATCCTGGCCGACTGCACATTGATCCTCGCCTGG       c.600
 A  L  K  E  L  A  K  M  C  I  L  A  D  C  T  L  I  L  A  W         p.200

    | 07     .         .         .         .         .         .    g.14017
 AG | CCCCGAGGAAGCTGGGCGGTACCTGGAGACCTACAAGGCCTATGAGCAGAAACCAGCG    c.660
 S  |  P  E  E  A  G  R  Y  L  E  T  Y  K  A  Y  E  Q  K  P  A      p.220

          .         .         .         .   | 08     .         .    g.14903
 GACCTCCTGATGGAGAAGCTAGAGCAGGACTTCGTCTCCCGG | GTGACTGAATGTCTGACC    c.720
 D  L  L  M  E  K  L  E  Q  D  F  V  S  R   | V  T  E  C  L  T      p.240

          .         .         .         .         .     | 09   .    g.15180
 ACCGTGAAGTCAGTCAACAAAACGGACAGTCAGACCCTCCTGACCACATTTGGA | TCTCTG    c.780
 T  V  K  S  V  N  K  T  D  S  Q  T  L  L  T  T  F  G   | S  L      p.260

          .         .         .         .         .         .       g.15240
 GAACAGCTCATCGCCGCATCAAGAGAAGATCTGGCCTTATGCCCAGGCCTGGGCCCTCAG       c.840
 E  Q  L  I  A  A  S  R  E  D  L  A  L  C  P  G  L  G  P  Q         p.280

     | 10    .         .         .         .         .              g.19251
 AAA | GCCCGGAGGCTGTTTGATGTCCTGCACGAGCCCTTCTTGAAAGTACCCTGA          c.894
 K   | A  R  R  L  F  D  V  L  H  E  P  F  L  K  V  P  X            p.297

          .         .         .         .         .         .       g.19311
 tgaccccagctgccaaggaaacccccagtgtaataataaatcgtcctcccaggccaggct       c.*60

          .         .         .         .         .         .       g.19371
 cctgctggctgcgctggtgcagtctctggggagggattctgggggtgtcaccttctggtg       c.*120

          .         .         .         .         .         .       g.19431
 gcccaggtgggcaccttcagctttctttagttcctcagtttcccgggggcagactacaca       c.*180

          .         .         .         .         .         .       g.19491
 ggctgctgctgctgctgcttccgcttcttgtcccggcctgtgggagcctcctccccagac       c.*240

          .         .         .         .         .         .       g.19551
 tctgaattcagtggcggccctggcatctcctcttggggcactgtctctggcatccggctt       c.*300

          .         .         .         .         .         .       g.19611
 tcctgactctgcttcttcctcttcttggtggatcccggagttgccctggcttcaggctgt       c.*360

          .         .         .         .         .         .       g.19671
 ccctcccctggcagttcaggctctagtggctgaattggctcagtcactgtgtgacctctc       c.*420

          .         .         .         .         .         .       g.19731
 tctttcttcttcttcttcttcttggtggatgtgggagctgcctgaggctcaaggtcatcc       c.*480

          .         .         .         .         .         .       g.19791
 ggcagctcaggccccaccacctctgtctctggctccactgtggcatcttgctgtttttct       c.*540

          .         .         .         .         .         .       g.19851
 ttcttcgtcttctttttgggagctgccagagctgcctgggcctgaggcttcgctccttct       c.*600

          .         .         .         .         .         .       g.19911
 ggctgttgaggcgccatggtcccccctggggactccagaggcttcatctccggctccact       c.*660

          .         .         .         .         .         .       g.19971
 ggctccatcgcctccgtccctggctccatcattgccatctgtcccttttcttttttcctc       c.*720

          .         .         .         .         .         .       g.20031
 ttcttcgtagggggcagagggatggcttcctccagtggctccaccttcacctgtggctga       c.*780

          .         .         .         .         .         .       g.20091
 gactcaactgtcaccccctcctctggctccatcccttccgtccccttttgcctctttctc       c.*840

          .         .         .         .         .         .       g.20151
 tttttggtcggggacaggactgtgtcttctagaggctcagtgttaatctgttcctgcttc       c.*900

          .         .         .         .         .         .       g.20211
 actgtcttgtcttctggctcgaaggtttctttccctttgggcttcttcctcttcttggtg       c.*960

          .         .         .         .         .         .       g.20271
 gtggacgggaacagcactcccagaggctccagtgtctccactgtgggctctgtccccaca       c.*1020

          .         .         .         .         .         .       g.20331
 ggccctgctgcctctggttctttcagctgctgattttttttcttcttcttcttccgcaca       c.*1080

          .         .         .         .         .         .       g.20391
 tccatttctggcgaccccaaagccatgtccacctccagggccccgtgcccattcactgcc       c.*1140

          .         .         .         .         .         .       g.20451
 tcctgagtgactggggcctctgtcacctgcatctcctttttcttcttccctgaggtgagc       c.*1200

          .         .         .         .         .         .       g.20511
 aggttgggggccaaggctgacctaggccctgtgactggtgggttgcccccaaaggcacag       c.*1260

          .         .         .         .         .         .       g.20571
 aaccgaggcctcaggccaggagggatctgtggtgggggacttgctgggatgggctgcaga       c.*1320

          .         .         .         .         .         .       g.20631
 gggctccctgacagggattgctggggaccctcaaggatccttagggtgccctggggggct       c.*1380

          .         .         .         .         .         .       g.20691
 gaggcacaggtgagtccacctcctgcctccgttgagggggccagcagggtcgcttctcca       c.*1440

          .         .         .         .         .         .       g.20751
 gcttggggacagctgctgaggactcgatagcggtgccgcttgcctgccaatttgcccttg       c.*1500

          .         .         .         .         .         .       g.20811
 acgatctgggagccagagagaggcacatgccgcccattgaagctacagagagaaacaggg       c.*1560

          .         .         .         .         .         .       g.20871
 agggcagaggcttaagtggaacaggagagggaaggttttttgattttttttttgtttttt       c.*1620

          .         .         .         .         .         .       g.20931
 tttgagagagtcttgctctgttgcctaggctggagtgcagtggcatgatctcggctcact       c.*1680

          .         .         .         .         .         .       g.20991
 gcaatgtccacctcctgggttcaagcgattctcctgcctcagcctctcaagtagctggga       c.*1740

          .         .         .         .         .         .       g.21051
 ttacaggcacctgccaccacgcccagccaatttttgtatttttagtagagacaatttcac       c.*1800

          .         .         .         .         .         .       g.21111
 tatgttggccaggctggtcttgaactcctgacctcaagtgatctgctcgcctcggcctcc       c.*1860

          .         .         .         .         .         .       g.21171
 caaaggatgggattacaggcaccagccactgcgcctggctggcctctggtttttaataaa       c.*1920

          .         .         .         .         .         .       g.21231
 acatgactagagtgactccatcttaaagtgagtagctaggcacttacaaggttcatgctt       c.*1980

          .         .         .         .         .         .       g.21291
 atggcctgaaaataaccacatcccaggctgaccaccaattataattacagaatatttatg       c.*2040

          .         .         .         .         .         .       g.21351
 gccatacagaacatgttccaccaagcctgcagaatgtccaaatgtcctaagaatgcagcc       c.*2100

          .         .         .         .         .         .       g.21411
 cccattacttaaatataacataaatgagcaagcttaggttgcaggattaatggtcgtgga       c.*2160

          .         .         .         .         .         .       g.21471
 taacaccaatagcccctacctttagtgagcttatctgcacactccaagtttaactatagt       c.*2220

          .         .         .         .         .         .       g.21531
 tccttatagtttcttataagtagaaatactaacaaagggctgtgggtttctccccctgct       c.*2280

          .         .         .         .         .         .       g.21591
 ttctgaggacactctactctgtaaaggagtagtttccaataaacttgtttctttcactgt       c.*2340

                                                                    g.21593
 gc                                                                 c.*2342

 (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 Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) 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.