TERF1 (TRF1)-interacting nuclear factor 2 (TINF2) - coding DNA reference sequence

(used for variant description)

(last modified October 26, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_001099274.1 in the TINF2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_016650.1, covering TINF2 transcript NM_001099274.1.

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

 (upstream sequence)
                     .         .         .         .                g.5042
                   ctcttaccgcccttttccggggcaagggaagctagtagcgga       c.-301

 .         .         .         .         .         .                g.5102
 gccggaagtgaggcaccctcgggctcgagacagcggcgacgtttaaagctgagcgaccca       c.-241

 .         .         .         .         .         .                g.5162
 gtgccactggagacggtcagcttctccactcaggctcctccagcccgagccagaagaccc       c.-181

 .         .         .         .         .         .                g.5222
 cctcccccagaattctgggggccgatggaagggagccgagtcagatcgcgaggtacccag       c.-121

 .         .         .         .         .         .                g.5282
 agccgacagaccggagcgacagggagttgccagaagccccgcccctaggagtgatcggaa       c.-61

 .         .         .         .         .         .                g.5342
 agcctcacccatccgggtgaggaacccggagggaccgcctccgggcggagcccgccgacc       c.-1

          .         .         .         .         .         .       g.5402
 ATGGCTACGCCCCTGGTGGCGGGTCCCGCAGCTCTACGCTTCGCCGCCGCGGCTAGCTGG       c.60
 M  A  T  P  L  V  A  G  P  A  A  L  R  F  A  A  A  A  S  W         p.20

          .         .         .         .         .         .       g.5462
 CAGGTTGTGCGCGGACGCTGCGTGGAACATTTTCCGCGAGTACTGGAGTTTCTGCGATCT       c.120
 Q  V  V  R  G  R  C  V  E  H  F  P  R  V  L  E  F  L  R  S         p.40

          .         .         .         .         .         .       g.5522
 CTGCGCGCTGTTGCCCCTGGCTTGGTTCGCTACCGGCACCACGAACGCCTTTGTATGGGC       c.180
 L  R  A  V  A  P  G  L  V  R  Y  R  H  H  E  R  L  C  M  G         p.60

          .   | 02     .         .         .         .         .    g.5728
 CTAAAGGCCAAG | GTGGTGGTGGAGCTGATCCTGCAGGGCCGGCCTTGGGCCCAAGTCCTG    c.240
 L  K  A  K   | V  V  V  E  L  I  L  Q  G  R  P  W  A  Q  V  L      p.80

          .         .         .         .         .        | 03.    g.5901
 AAAGCCCTGAATCACCACTTTCCAGAATCTGGACCTATAGTGCGGGATCCCAAGGCT | ACA    c.300
 K  A  L  N  H  H  F  P  E  S  G  P  I  V  R  D  P  K  A   | T      p.100

          .         .         .         .         .         .       g.5961
 AAGCAGGATCTGAGGAAGATTTTGGAGGCACAGGAAACTTTTTACCAGCAGGTGAAGCAG       c.360
 K  Q  D  L  R  K  I  L  E  A  Q  E  T  F  Y  Q  Q  V  K  Q         p.120

          .         .         .          | 04        .         .    g.6384
 CTGTCAGAGGCTCCTGTGGATTTGGCCTCGAAGCTGCAG | GAACTTGAACAAGAGTATGGG    c.420
 L  S  E  A  P  V  D  L  A  S  K  L  Q   | E  L  E  Q  E  Y  G      p.140

          .         .         .         .         .         .       g.6444
 GAACCCTTTCTGGCTGCCATGGAAAAGCTGCTTTTTGAGTACTTGTGTCAGCTGGAGAAA       c.480
 E  P  F  L  A  A  M  E  K  L  L  F  E  Y  L  C  Q  L  E  K         p.160

          .         .        | 05.         .         .         .    g.6591
 GCACTGCCTACACCGCAGGCACAGCAG | CTTCAGGATGTGCTGAGTTGGATGCAGCCTGGA    c.540
 A  L  P  T  P  Q  A  Q  Q   | L  Q  D  V  L  S  W  M  Q  P  G      p.180

          .         .         .         .         .         .       g.6651
 GTCTCTATCACCTCTTCTCTTGCCTGGAGACAATATGGTGTGGACATGGGGTGGCTGCTT       c.600
 V  S  I  T  S  S  L  A  W  R  Q  Y  G  V  D  M  G  W  L  L         p.200

      | 06   .         .         .         .         .         .    g.6855
 CCAG | AGTGCTCTGTTACTGACTCAGTGAACCTGGCTGAGCCCATGGAACAGAATCCTCCT    c.660
 P  E |   C  S  V  T  D  S  V  N  L  A  E  P  M  E  Q  N  P  P      p.220

          .         .         .         .         .         .       g.6915
 CAGCAACAAAGACTAGCACTCCACAATCCCCTGCCAAAAGCCAAGCCTGGCACACATCTT       c.720
 Q  Q  Q  R  L  A  L  H  N  P  L  P  K  A  K  P  G  T  H  L         p.240

          .         .         .         .         .         .       g.6975
 CCTCAGGGACCATCTTCAAGGACGCACCCAGAACCTCTAGCTGGCCGACACTTCAATCTG       c.780
 P  Q  G  P  S  S  R  T  H  P  E  P  L  A  G  R  H  F  N  L         p.260

          .         .         .         .         .         .       g.7035
 GCCCCTCTAGGCCGACGAAGAGTTCAGTCCCAATGGGCCTCCACTAGGGGAGGCCATAAG       c.840
 A  P  L  G  R  R  R  V  Q  S  Q  W  A  S  T  R  G  G  H  K         p.280

          .         .         .         .         .         .       g.7095
 GAGCGCCCCACAGTCATGCTGTTTCCCTTTAGGAATCTCGGCTCACCAACCCAGGTCATA       c.900
 E  R  P  T  V  M  L  F  P  F  R  N  L  G  S  P  T  Q  V  I         p.300

          .         .         .         .         .         .       g.7155
 TCTAAGCCTGAGAGCAAGGAAGAACATGCGATATACACAGCAGACCTAGCCATGGGCACA       c.960
 S  K  P  E  S  K  E  E  H  A  I  Y  T  A  D  L  A  M  G  T         p.320

          .         .         .         .         .         .       g.7215
 AGAGCAGCCTCCACTGGGAAGTCTAAGAGTCCATGCCAGACCCTGGGGGGAAGGGCTCTG       c.1020
 R  A  A  S  T  G  K  S  K  S  P  C  Q  T  L  G  G  R  A  L         p.340

          .         .         .         .  | 07      .         .    g.7363
 AAGGAGAACCCAGTTGACTTGCCTGCCACAGAGCAAAAGGA | GAATTGCTTGGATTGCTAC    c.1080
 K  E  N  P  V  D  L  P  A  T  E  Q  K  E  |  N  C  L  D  C  Y      p.360

          .         .         .         .          | 08        .    g.7530
 ATGGACCCCCTGAGACTATCATTATTACCTCCTAGGGCCAGGAAGCCAG | TGTGTCCTCCG    c.1140
 M  D  P  L  R  L  S  L  L  P  P  R  A  R  K  P  V |   C  P  P      p.380

          .         .         .         .         .         .       g.7590
 TCTCTGTGCAGCTCCGTCATTACCATAGGGGACTTGGTTTTAGACTCTGATGAGGAAGAA       c.1200
 S  L  C  S  S  V  I  T  I  G  D  L  V  L  D  S  D  E  E  E         p.400

          .         .  | 09      .         .         .         .    g.7782
 AATGGCCAGGGGGAAGGAAAG | GAATCTCTGGAAAACTATCAGAAGACAAAGTTTGACACC    c.1260
 N  G  Q  G  E  G  K   | E  S  L  E  N  Y  Q  K  T  K  F  D  T      p.420

          .         .         .         .         .         .       g.7842
 TTGATACCCACTCTCTGTGAATACCTACCCCCTTCTGGCCACGGTGCCATACCTGTTTCT       c.1320
 L  I  P  T  L  C  E  Y  L  P  P  S  G  H  G  A  I  P  V  S         p.440

          .         .         .                                     g.7878
 TCCTGTGACTGTAGAGACAGTTCTAGACCTTTGTGA                               c.1356
 S  C  D  C  R  D  S  S  R  P  L  X                                 p.451

          .         .         .         .         .         .       g.7938
 tagaactaaaatgctctctgtactctagtctcctgcctcctcagctctgcaagtagttta       c.*60

          .         .         .         .         .         .       g.7998
 gtaggaatgaagtggaagtccaggcttggattgcctaactacactgctaaaaatatttgt       c.*120

          .         .         .                                     g.8032
 aatccttaataattaaactttggatttgttaaaa                                 c.*154

 (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 TERF1 (TRF1)-interacting nuclear factor 2 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.