exosome component 3 (EXOSC3) - coding DNA reference sequence

(used for variant description)

(last modified July 4, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_016042.3 in the EXOSC3 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_032780.1, covering EXOSC3 transcript NM_016042.3.

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

 (upstream sequence)
                     .         .         .         .                g.5048
             gcggaagcggaaggcgggtaccggaaacggtgtttggtggagcccgcg       c.-1

          .         .         .         .         .         .       g.5108
 ATGGCCGAACCTGCGTCTGTCGCGGCTGAATCTCTCGCGGGCAGCAGGGCGCGCGCTGCA       c.60
 M  A  E  P  A  S  V  A  A  E  S  L  A  G  S  R  A  R  A  A         p.20

          .         .         .         .         .         .       g.5168
 CGCACAGTACTAGGTCAGGTGGTGCTCCCGGGTGAGGAGCTGCTCCTGCCGGAACAGGAG       c.120
 R  T  V  L  G  Q  V  V  L  P  G  E  E  L  L  L  P  E  Q  E         p.40

          .         .         .         .         .         .       g.5228
 GACGCGGAAGGCCCTGGGGGTGCAGTGGAGCGACCGTTGAGCCTGAATGCTAGAGCGTGC       c.180
 D  A  E  G  P  G  G  A  V  E  R  P  L  S  L  N  A  R  A  C         p.60

          .         .         .         .         .         .       g.5288
 TCGCGGGTGCGCGTTGTATGCGGTCCGGGCCTTCGGCGCTGTGGGGACCGCCTGCTGGTC       c.240
 S  R  V  R  V  V  C  G  P  G  L  R  R  C  G  D  R  L  L  V         p.80

          .         .         .         .         .         .       g.5348
 ACCAAGTGCGGCCGCCTCCGTCACAAGGAGCCCGGCAGTGGCAGCGGCGGCGGTGTTTAC       c.300
 T  K  C  G  R  L  R  H  K  E  P  G  S  G  S  G  G  G  V  Y         p.100

          .         .     | 02   .         .         .         .    g.6065
 TGGGTGGACTCTCAGCAGAAGCGG | TATGTTCCAGTAAAAGGAGACCATGTGATTGGCATA    c.360
 W  V  D  S  Q  Q  K  R   | Y  V  P  V  K  G  D  H  V  I  G  I      p.120

          .         .         .         .         .         .       g.6125
 GTGACAGCTAAATCTGGAGATATATTCAAAGTTGATGTTGGAGGGAGTGAGCCAGCTTCT       c.420
 V  T  A  K  S  G  D  I  F  K  V  D  V  G  G  S  E  P  A  S         p.140

          .         .         .         .         .     | 03   .    g.7961
 TTGTCTTACTTGTCATTTGAAGGTGCAACTAAAAGAAACAGACCAAATGTGCAG | GTTGGA    c.480
 L  S  Y  L  S  F  E  G  A  T  K  R  N  R  P  N  V  Q   | V  G      p.160

          .         .         .         .         .         .       g.8021
 GATCTCATCTATGGCCAGTTTGTGGTTGCTAATAAAGACATGGAACCAGAGATGGTCTGT       c.540
 D  L  I  Y  G  Q  F  V  V  A  N  K  D  M  E  P  E  M  V  C         p.180

          .         .         .         .         .         .       g.8081
 ATTGACAGCTGTGGACGAGCCAATGGAATGGGTGTCATTGGACAGGATGGTCTGCTTTTT       c.600
 I  D  S  C  G  R  A  N  G  M  G  V  I  G  Q  D  G  L  L  F         p.200

          .         .       | 04 .         .         .         .    g.9246
 AAAGTGACTCTGGGCTTAATTAGAAA | GCTATTAGCTCCAGATTGTGAAATCATACAGGAA    c.660
 K  V  T  L  G  L  I  R  K  |  L  L  A  P  D  C  E  I  I  Q  E      p.220

          .         .         .         .         .         .       g.9306
 GTGGGAAAACTCTATCCACTGGAGATAGTATTTGGAATGAATGGAAGAATATGGGTTAAG       c.720
 V  G  K  L  Y  P  L  E  I  V  F  G  M  N  G  R  I  W  V  K         p.240

          .         .         .         .         .         .       g.9366
 GCAAAAACCATCCAGCAGACTTTAATTTTGGCAAACATTTTAGAAGCTTGTGAACACATG       c.780
 A  K  T  I  Q  Q  T  L  I  L  A  N  I  L  E  A  C  E  H  M         p.260

          .         .         .         .                           g.9414
 ACGTCAGATCAAAGAAAACAGATCTTCTCCAGATTGGCAGAAAGTTGA                   c.828
 T  S  D  Q  R  K  Q  I  F  S  R  L  A  E  S  X                     p.275

          .         .         .         .         .         .       g.9474
 tataggtggacttttttacaggtcagttgaggcaaaaaactatgggttttttcaggtgaa       c.*60

          .         .         .         .         .         .       g.9534
 cctcccccatttaaatactcagaagataaggtgtgaatgtatgtattattagagtccgaa       c.*120

          .         .         .         .         .         .       g.9594
 agtatttttataagttactggttttcacccacgcttttgtgggagagaaaatcattgcaa       c.*180

          .         .         .         .         .         .       g.9654
 aatcattttttttgttcggtacaataaagtttactaaaaaacagtattagggtttatttg       c.*240

          .         .         .         .         .         .       g.9714
 gagttaactcccttagtaattgctacagcttccataattaactggaggtcagcagtaaaa       c.*300

          .         .         .         .         .         .       g.9774
 taattttgtgattataacagtaagccaggttcaccagaggaaatgtggaatacctaagta       c.*360

          .         .         .         .         .         .       g.9834
 taaagcagcaaagaaatgtcacctgtagtcccattattcagcgggtgagtatataacaac       c.*420

          .         .         .         .         .         .       g.9894
 gaaatactttttcatttaccaagtattgtgttttgcatggattaactcctttattctaac       c.*480

          .         .         .         .         .         .       g.9954
 tgcagaagacacttatcctcataattgaaactgaggcacagaatttaacttggcctacat       c.*540

          .         .         .         .         .         .       g.10014
 tctctatattcatcaaattgaaattatagttattatagcttatatgccactttgtaatat       c.*600

          .         .         .         .         .         .       g.10074
 acttttgtctacttcaaacagcatgatacatttcacaactttagtcacatatttcatgtt       c.*660

          .         .         .         .         .         .       g.10134
 acaggatatttttgagttttatcattatataaataacactatgaggatttctgaatccaa       c.*720

          .         .         .         .         .         .       g.10194
 atctggccaagtcttattttgctaaaatcatttcctaggagctaagcatagaaaactctt       c.*780

          .         .         .         .         .         .       g.10254
 ctatgctatttagtatattaaccaaaacctttagaggtaaagagactgccaggtgatcca       c.*840

          .         .         .         .         .         .       g.10314
 catcagtgattcttggtttctagacctctgagaatatgtgagatacagatcccctgaagc       c.*900

          .         .         .         .         .         .       g.10374
 ctatccatagaaagtcctttttggatcaaagagattatagaactctatttgttgataaag       c.*960

                                                                    g.10379
 accaa                                                              c.*965

 (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 Exosome component 3 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.