transmembrane protein 165 (TMEM165) - coding DNA reference sequence

(used for variant description)

(last modified March 20, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_018475.4 in the TMEM165 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_032881.1, covering TMEM165 transcript NM_018475.4.

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

 (upstream sequence)
                               .         .         .                g.5037
                        gggccgggaggagtcggggctgggccgcgccgaggca       c.-241

 .         .         .         .         .         .                g.5097
 gctggctgactccagtttagccgccgccggagaggacgggcgccgagccggggctgcgga       c.-181

 .         .         .         .         .         .                g.5157
 cttcggcctgcccctcacctcactcccgctgcttgcacctcccggatggtgctgactgct       c.-121

 .         .         .         .         .         .                g.5217
 ccctaagcggcggcggcggcgagtcgtgaggacgcgccgcggaggctgttcggggtcgag       c.-61

 .         .         .         .         .         .                g.5277
 gcttcccgtcgccggcacttcctcttgcggcgcccgtgcgcggccggcccggcaggcggg       c.-1

          .         .         .         .         .         .       g.5337
 ATGGCGGCCGCGGCTCCAGGGAACGGCCGCGCATCGGCGCCCCGGCTGCTTCTGCTCTTT       c.60
 M  A  A  A  A  P  G  N  G  R  A  S  A  P  R  L  L  L  L  F         p.20

          .         .         .         .         .         .       g.5397
 CTGGTTCCGCTGCTGTGGGCCCCGGCTGCGGTCCGGGCCGGCCCAGATGAAGACCTTAGC       c.120
 L  V  P  L  L  W  A  P  A  A  V  R  A  G  P  D  E  D  L  S         p.40

          .         .         .         .         .         .       g.5457
 CACCGGAACAAAGAACCGCCGGCGCCGGCCCAGCAGCTGCAGCCGCAGCCTGTGGCTGTG       c.180
 H  R  N  K  E  P  P  A  P  A  Q  Q  L  Q  P  Q  P  V  A  V         p.60

          .         .        | 02.         .         .         .    g.20734
 CAGGGCCCCGAGCCGGCCCGGGTCGAG | AAAATATTTACACCAGCAGCTCCAGTTCATACC    c.240
 Q  G  P  E  P  A  R  V  E   | K  I  F  T  P  A  A  P  V  H  T      p.80

          .         .         .         .         .         .       g.20794
 AATAAAGAAGATCCTGCTACCCAAACTAATTTGGGATTTATCCATGCATTTGTCGCTGCC       c.300
 N  K  E  D  P  A  T  Q  T  N  L  G  F  I  H  A  F  V  A  A         p.100

          .         .         .         .         .         .       g.20854
 ATATCAGTTATTATTGTATCTGAATTGGGTGATAAGACATTTTTTATAGCAGCCATCATG       c.360
 I  S  V  I  I  V  S  E  L  G  D  K  T  F  F  I  A  A  I  M         p.120

          .         .         .         .         .         .       g.20914
 GCAATGCGCTATAACCGCCTGACCGTGCTGGCTGGTGCAATGCTTGCCTTGGGACTAATG       c.420
 A  M  R  Y  N  R  L  T  V  L  A  G  A  M  L  A  L  G  L  M         p.140

          .    | 03    .         .         .         .         .    g.26206
 ACATGCTTGTCAG | TTTTGTTTGGCTATGCCACCACAGTCATCCCCAGGGTCTATACATAC    c.480
 T  C  L  S  V |   L  F  G  Y  A  T  T  V  I  P  R  V  Y  T  Y      p.160

          .         .         .         .         .         .       g.26266
 TATGTTTCAACTGTATTATTTGCCATTTTTGGCATTAGAATGCTTCGGGAAGGCTTAAAG       c.540
 Y  V  S  T  V  L  F  A  I  F  G  I  R  M  L  R  E  G  L  K         p.180

          .         .         .         .         .         .       g.26326
 ATGAGCCCTGATGAGGGTCAAGAGGAACTGGAAGAAGTTCAAGCTGAATTAAAGAAGAAA       c.600
 M  S  P  D  E  G  Q  E  E  L  E  E  V  Q  A  E  L  K  K  K         p.200

           | 04        .         .         .         .         .    g.26941
 GATGAAGAA | TTTCAACGAACCAAACTTTTAAATGGACCGGGAGATGTTGAAACGGGTACA    c.660
 D  E  E   | F  Q  R  T  K  L  L  N  G  P  G  D  V  E  T  G  T      p.220

          .         .         .         .         .         .       g.27001
 AGCATAACAGTACCTCAGAAAAAGTGGTTGCATTTTATTTCACCCATTTTTGTTCAAGCT       c.720
 S  I  T  V  P  Q  K  K  W  L  H  F  I  S  P  I  F  V  Q  A         p.240

          .         .         .         .         .         .       g.27061
 CTTACATTAACATTCTTAGCAGAATGGGGTGATCGCTCTCAACTAACTACAATTGTATTG       c.780
 L  T  L  T  F  L  A  E  W  G  D  R  S  Q  L  T  T  I  V  L         p.260

          .   | 05     .         .         .         .         .    g.33673
 GCAGCTAGAGAG | GACCCCTATGGTGTAGCCGTGGGTGGAACTGTGGGGCACTGCCTGTGC    c.840
 A  A  R  E   | D  P  Y  G  V  A  V  G  G  T  V  G  H  C  L  C      p.280

          .         .         .         .         .         | 06    g.34465
 ACGGGATTGGCAGTAATTGGAGGAAGAATGATAGCACAGAAAATCTCTGTCAGAACTG | TG    c.900
 T  G  L  A  V  I  G  G  R  M  I  A  Q  K  I  S  V  R  T  V |       p.300

          .         .         .         .         .         .       g.34525
 ACAATCATAGGAGGCATCGTTTTTTTGGCGTTTGCATTTTCTGCACTATTTATAAGCCCT       c.960
 T  I  I  G  G  I  V  F  L  A  F  A  F  S  A  L  F  I  S  P         p.320

          .                                                         g.34540
 GATTCTGGTTTTTAA                                                    c.975
 D  S  G  F  X                                                      p.324

          .         .         .         .         .         .       g.34600
 caagctgtttgttcatctatatttagtttaaaataggtagtattatctttctgtacatag       c.*60

          .         .         .         .         .         .       g.34660
 tgtacattacaactaaaagtgatggaaaaatactgtattttgtagcactgattttgtgag       c.*120

          .         .         .         .         .         .       g.34720
 tttgacccattattatgtctgagatataatcattgattctatttgtaacaaggagtttta       c.*180

          .         .         .         .         .         .       g.34780
 aaagaaacctgacttctaagtgtgggtttttcttctctccaacataattatgttaatatg       c.*240

          .         .         .         .         .         .       g.34840
 gtcctcatttttcttttggtgcagaaccgttgtgcagtggggtctaccatgcaattttct       c.*300

          .         .         .         .         .         .       g.34900
 ttcagcactgacccctttttaaggaatacaaattttctccttcatcacttaggtgtttta       c.*360

          .         .         .         .         .         .       g.34960
 agatgtttaccttaaagtttttcttggggaaagaatgaattaatttctatttcttaaaac       c.*420

          .         .         .         .         .         .       g.35020
 atttccctgagccagtaaacagtagtttaatcattggtcttttcaaaactaggtgtttaa       c.*480

          .         .         .         .         .         .       g.35080
 aaaaagagacatatatgatattgctgttatatcaataacatggcacaacaagaactgtct       c.*540

          .         .         .         .         .         .       g.35140
 gccaggtcattcttcctcttttttttttaattgggtaggacacccaatataaaaacagtc       c.*600

          .         .         .         .         .         .       g.35200
 aatatttgacaatgtggaattaccaaattaaaagagaatactatgaatgtattcatattt       c.*660

          .         .         .         .         .         .       g.35260
 tttctatattgaataaacaatgtaacatagataacaatataaataaaagtggtatgacca       c.*720

                                                                    g.35263
 gtg                                                                c.*723

 (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 Transmembrane protein 165 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.