coiled-coil domain containing 160 (CCDC160) - coding DNA reference sequence

(used for variant description)

(last modified May 16, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_001101357.1 in the CCDC160 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000023.10, covering CCDC160 transcript NM_001101357.1.

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

 (upstream sequence)
                                         .         .                g.5021
                                        aagccgccgcggtacccgctt       c.-301

 .         .         .         .         .         .                g.5081
 caccgggcatgctcagtcctccggccaggctttgactgcgggacgccagcgtccggcccc       c.-241

 .         .         .         .         .         .                g.5141
 ctgcgcgcgtccggagtccgggtccctttaaatcgggcaggctcgttgctaggcaaccgc       c.-181

 .         .         .         .         .         .                g.5201
 gcggcccgcgctggcgctgcactgcggtggctcagcccggagccggcccggcggggtcgc       c.-121

 .         .         .         .         .         .                g.5261
 ggtggccagagccgaacggggggctgccgcgcgcgggtggtggttgtctttgaggaagag       c.-61

 .         .         .         .      | 02  .         .             g.12754
 aggttcgggctctccagacggcatccacgcttccag | atattggaagaggtgcctggagaa    c.-1

          .         .         .         .         .         .       g.12814
 ATGGATGCTAGAAGAAAACACTGGAAGGAGAATATGTTTACTCCTTTTTTTAGTGCACAA       c.60
 M  D  A  R  R  K  H  W  K  E  N  M  F  T  P  F  F  S  A  Q         p.20

          .         .         .         .         .         .       g.12874
 GATGTTCTAGAAGAGACTTCTGAGCCTGAATCTTCTTCTGAACAAACGACTGCAGATAGC       c.120
 D  V  L  E  E  T  S  E  P  E  S  S  S  E  Q  T  T  A  D  S         p.40

          .         .         .         .         .         .       g.12934
 AGCAAGGGAATGGAAGAAATTTATAATTTGTCCAGTAGAAAGTTTCAGGAAGAAAGTAAA       c.180
 S  K  G  M  E  E  I  Y  N  L  S  S  R  K  F  Q  E  E  S  K         p.60

          .         .         .         .         .         .       g.12994
 TTTAAGAGGAAAAAATATATTTTCCAACTAAATGAAATAGAACAAGAACAAAATTTAAGA       c.240
 F  K  R  K  K  Y  I  F  Q  L  N  E  I  E  Q  E  Q  N  L  R         p.80

          .         .         .         .         .         .       g.13054
 GAGAACAAGAGAAACATTTCAAAGAATGAAACAGACACAAATTCTGCATCCTATGAATCA       c.300
 E  N  K  R  N  I  S  K  N  E  T  D  T  N  S  A  S  Y  E  S         p.100

          .         .         .         .         .         .       g.13114
 TCTAATGTGGATGTTACAACAGAAGAAAGCTTTAACAGCACAGAAGATAACTCTACCTGC       c.360
 S  N  V  D  V  T  T  E  E  S  F  N  S  T  E  D  N  S  T  C         p.120

          .         .         .         .         .         .       g.13174
 AGTACAGATAACTTACCAGCTCTACTAAGACAAGACATAAGAAAGAAATTTATGGAAAGA       c.420
 S  T  D  N  L  P  A  L  L  R  Q  D  I  R  K  K  F  M  E  R         p.140

          .         .         .         .         .         .       g.13234
 ATGTCTCCAAAACTTTGCCTGAATCTTTTGAATGAAGAACTGGAAGAACTTAATATGAAA       c.480
 M  S  P  K  L  C  L  N  L  L  N  E  E  L  E  E  L  N  M  K         p.160

          .         .         .         .         .         .       g.13294
 TACAGAAAAATAGAAGAGGAATTTGAAAATGCTGAAAAAGAACTTTTGCACTACAAAAAA       c.540
 Y  R  K  I  E  E  E  F  E  N  A  E  K  E  L  L  H  Y  K  K         p.180

          .         .         .         .         .         .       g.13354
 GAAATATTCACAAAACCCCTAAATTTTCAAGAAACAGAGACGGATGCTTCAAAAAGTGAC       c.600
 E  I  F  T  K  P  L  N  F  Q  E  T  E  T  D  A  S  K  S  D         p.200

          .         .         .         .         .         .       g.13414
 TATGAACTTCAAGCTTTAAGAAATGACCTGTCTGAAAAAGCAACAAATGTAAAAAACTTA       c.660
 Y  E  L  Q  A  L  R  N  D  L  S  E  K  A  T  N  V  K  N  L         p.220

          .         .         .         .         .         .       g.13474
 AGTGAACAGCTCCAGCAAGCCAAAGAAGTCATCCACAAATTGAACCTAGAGAACAGAAAT       c.720
 S  E  Q  L  Q  Q  A  K  E  V  I  H  K  L  N  L  E  N  R  N         p.240

          .         .         .         .         .         .       g.13534
 CTAAAAGAAGCTGTTAGGAAGTTAAAGCATCAAACCGAGGTTGGAAATGTGCTCCTAAAA       c.780
 L  K  E  A  V  R  K  L  K  H  Q  T  E  V  G  N  V  L  L  K         p.260

          .         .         .         .         .         .       g.13594
 GAAGAAATGAAATCATATTATGAATTAGAAATGGCAAAGATCCGCGGAGAGCTCAGTGTC       c.840
 E  E  M  K  S  Y  Y  E  L  E  M  A  K  I  R  G  E  L  S  V         p.280

          .         .         .         .         .         .       g.13654
 ATCAAGAATGAACTGAGAACTGAGAAGACCCTACAAGCAAGAAATAACAGAGCCTTGGAG       c.900
 I  K  N  E  L  R  T  E  K  T  L  Q  A  R  N  N  R  A  L  E         p.300

          .         .         .         .         .         .       g.13714
 TTGCTTAGAAAATACTATGCTTCTTCAATGGTAACATCATCAAGTATCCTTGACCACTTT       c.960
 L  L  R  K  Y  Y  A  S  S  M  V  T  S  S  S  I  L  D  H  F         p.320

          .                                                         g.13732
 ACTGGGGATTTTTTTTAA                                                 c.978
 T  G  D  F  F  X                                                   p.325

 

 (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 Coiled-coil domain containing 160 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.