transmembrane protein 65 (TMEM65) - coding DNA reference sequence

(used for variant description)

(last modified December 21, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_194291.2 in the TMEM65 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000008.10, covering TMEM65 transcript NM_194291.2.

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

 (upstream sequence)
                                                                    g.5002
                                                           tt       c.-541

 .         .         .         .         .         .                g.5062
 ctgctgccgctaggggtagcggcggcggcggcggctgcggctcgggagcgcggctgcttt       c.-481

 .         .         .         .         .         .                g.5122
 gagggctcgggaaccttacagagtggggacgtggggaggctagagggtgagaaagctggc       c.-421

 .         .         .         .         .         .                g.5182
 gggagagtagggcggcgctggaggagggcggtgcgtggctgactcatcctctggaagatc       c.-361

 .         .         .         .         .         .                g.5242
 agactgacagagacacacactagcccgccccgcccgcccgcgccgctcctcctcagccgg       c.-301

 .         .         .         .         .         .                g.5302
 gaggcgcccgcccgcaccgaccgcccgccctctccgggcgctgtccgggcccggccgtct       c.-241

 .         .         .         .         .         .                g.5362
 cagagaaagtttttcccatcggaggggcgggagccgccgcgggccttttggaaaggaagt       c.-181

 .         .         .         .         .         .                g.5422
 ggggacggaacaggaggcgagagccgcgcgggcccgcggagtgcatggtgcccggcgcct       c.-121

 .         .         .         .         .         .                g.5482
 cggctgcctggcaggaggacctcggggcggggtcgagctgagcccagctccttctcgcct       c.-61

 .         .         .         .         .         .                g.5542
 cagccgcgccagaaaccgccttgccggacggccgcgggggtcccagctcctcagctcgcc       c.-1

          .         .         .         .         .         .       g.5602
 ATGTCCCGGCTGCTGCCGCTGCTGAGGAGCCGGACCGCGCGCAGCCTGAGGCCGGGCCCG       c.60
 M  S  R  L  L  P  L  L  R  S  R  T  A  R  S  L  R  P  G  P         p.20

          .         .         .         .         .         .       g.5662
 GCCGCCGCCGCCGCGCCCCGCCCGCCGTCCTGGTGCTGCTGCGGGCGGGGGCTGCTGGCG       c.120
 A  A  A  A  A  P  R  P  P  S  W  C  C  C  G  R  G  L  L  A         p.40

          .         .         .         .         .         .       g.5722
 CTCGCGCCCCCCGGCGGCTTGCCGGGCGGCCCCAGGCGGCTGGGCACGCACCCCAAGAAG       c.180
 L  A  P  P  G  G  L  P  G  G  P  R  R  L  G  T  H  P  K  K         p.60

          .         .         .         .         .         .       g.5782
 GAGCCCATGGAGGCGCTGAACACGGCGCAGGGCGCGCGCGACTTCATCTACAGCCTGCAC       c.240
 E  P  M  E  A  L  N  T  A  Q  G  A  R  D  F  I  Y  S  L  H         p.80

          .         .         .         .         .         .       g.5842
 TCCACGGAGAGGAGCTGCCTGCTCAAAGAGCTGCACCGCTTCGAGTCTATTGCCATTGCC       c.300
 S  T  E  R  S  C  L  L  K  E  L  H  R  F  E  S  I  A  I  A         p.100

      | 02   .         .         .         .          | 03        . g.50289
 CAAG | AAAAATTGGAAGCTCCACCACCCACCCCAGGACAGCTGAGATATG | TATTCATCCAC c.360
 Q  E |   K  L  E  A  P  P  P  T  P  G  Q  L  R  Y  V |   F  I  H   p.120

          .         .         .         .         .        | 04.    g.54327
 AATGCGATACCTTTCATAGGGTTTGGCTTTTTGGATAATGCAATTATGATTGTTGCT | GGA    c.420
 N  A  I  P  F  I  G  F  G  F  L  D  N  A  I  M  I  V  A   | G      p.140

          .         .         .         .         .   | 05     .    g.55560
 ACCCATATTGAAATGTCTATTGGAATTATTTTGGGAATTTCAACTATGGCAG | CTGCTGCT    c.480
 T  H  I  E  M  S  I  G  I  I  L  G  I  S  T  M  A  A |   A  A      p.160

          .         .         .      | 06  .         .         .    g.57533
 TTGGGAAATCTTGTGTCAGATCTAGCTGGACTTGG | ACTTGCAGGCTACGTTGAAGCATTG    c.540
 L  G  N  L  V  S  D  L  A  G  L  G  |  L  A  G  Y  V  E  A  L      p.180

          .         .         .         .         .         .       g.57593
 GCTTCCAGGTTAGGCCTGTCAATTCCTGATCTCACACCAAAGCAAGTTGACATGTGGCAA       c.600
 A  S  R  L  G  L  S  I  P  D  L  T  P  K  Q  V  D  M  W  Q         p.200

          .         .  | 07      .         .         .         .    g.63677
 ACACGTCTTAGTACACATTTG | GGCAAAGCTGTTGGGGTGACTATTGGCTGCATTCTAGGA    c.660
 T  R  L  S  T  H  L   | G  K  A  V  G  V  T  I  G  C  I  L  G      p.220

          .         .         .         .         .         .       g.63737
 ATGTTTCCTTTAATTTTCTTTGGAGGAGGTGAAGAAGATGAAAAACTGGAAACGAAAAGT       c.720
 M  F  P  L  I  F  F  G  G  G  E  E  D  E  K  L  E  T  K  S         p.240

                                                                    g.63740
 TAA                                                                c.723
 X                                                                  p.240

          .         .         .         .         .         .       g.63800
 tcctcttagaatacctataaaaagatgtaaactaatgtacctcagtaattaaatatgctg       c.*60

          .         .         .         .         .         .       g.63860
 tcacaacatttaggaattaagacagtaacagtatagatatgggatcaaataatttagcat       c.*120

          .         .         .         .         .         .       g.63920
 gtattatggaaaacactaacttattgtggcttgatcttcttaggacatcttttttaaaaa       c.*180

          .         .         .         .         .         .       g.63980
 gctgtttagtatcattttgtgtatattgttgaaatgctttttcatcaatagcagtcaaca       c.*240

          .         .         .         .         .         .       g.64040
 ttttatcctttctttttatattcataatgttatttaagtgtcattgatgtactgtattga       c.*300

          .         .         .         .         .         .       g.64100
 cttggggtttgcttatttgttacttaacatgtgtacatgcatgaaagcatttttcgttgt       c.*360

          .         .         .         .         .         .       g.64160
 tccctgatagttacatttcaaccttgggatttttccaaattacttaagatgtttaatgtc       c.*420

          .         .         .         .         .         .       g.64220
 agttaaagatttttttaccctctttttgggaacatcaattttgtactgttatgcagtaaa       c.*480

          .         .         .         .         .         .       g.64280
 catttataataatataatttcagtcatttcttaactgtcacatctattgaaaatggatat       c.*540

          .         .         .         .         .         .       g.64340
 agatacaggttttaagtattttaagtatatattacttattttaattttctgactttacta       c.*600

          .         .         .         .         .         .       g.64400
 ttttaagggccagagggttaatcacaaagagcaattatgtggtctccctgctacatgaaa       c.*660

          .         .         .         .         .         .       g.64460
 ccgtgtatactaacaagcgtacaatttttagttgattttttttaaccttttagtttccca       c.*720

          .         .         .         .         .         .       g.64520
 gttttgaataattacatggtggattctgacttttgaggggaagcaaatgattattttaga       c.*780

          .         .         .         .         .         .       g.64580
 gtctttgaaatggggattgtggaattagattgaactaagggatttaacatgatgcttgga       c.*840

          .         .         .         .         .         .       g.64640
 aattaagagactaaagctttttttaaaaaaaggtggaaaataggaactgtcaagaaggtt       c.*900

          .         .         .         .         .         .       g.64700
 tatggtataaatgatgaagttgaagtgatgtttgaaagattaatgagatacaatttatat       c.*960

          .         .         .         .         .         .       g.64760
 tatttggtaaggtttttttttttccctccaaagatgtcatcttctcatctgaatggaata       c.*1020

          .         .         .         .         .         .       g.64820
 agtctgaataccccatattcatactcctaatctcattatatcttatttagtgaattttat       c.*1080

          .         .         .         .         .         .       g.64880
 ttatgaataatttctgttgaagtgaaaactagatatttaatattttgcttttttgctaca       c.*1140

          .         .         .         .         .         .       g.64940
 tagtctactcaaaaattacatgaggagaaatcctttttccctttgtttttcttttttctt       c.*1200

          .         .         .         .         .         .       g.65000
 cttttgtggtatttaaagcatattttaggttgaagttacttatttctagtcttgtacttc       c.*1260

          .         .         .         .         .         .       g.65060
 tggcttaagtataaccatgtaagaattataaattttagttttctgaacccttaaactttt       c.*1320

          .         .         .         .         .         .       g.65120
 ttagcatgtggtctgttacacatgctaaaaaattagtcttacttgtaacagcgtaattaa       c.*1380

          .         .         .         .         .         .       g.65180
 acacatcatggaggagagaaacttaaaattaaaatagtattttggcttttgaagttattt       c.*1440

          .         .         .         .         .         .       g.65240
 gtgttgctaaatagatgcagaggttttacagcagtttattttaaggttttatttatacat       c.*1500

          .         .         .         .         .         .       g.65300
 aattactttgaactcttcagagtagatattttttcacaaggcagtttgtcataaattctc       c.*1560

          .         .         .         .         .         .       g.65360
 tcatgcgcttcagaatgcataagtgccatcctttaatcatagactttgaggagagaaagc       c.*1620

          .         .         .         .         .         .       g.65420
 ataaaaatatagcatataatctaaaaataaatatataacatgcacaaataatgtgacatt       c.*1680

          .         .         .         .         .         .       g.65480
 cttactgaatcaaatcatgattctagaacttgagatcttaaatagaatttcggtttgtat       c.*1740

          .         .         .         .         .         .       g.65540
 cttccatataataaccacacacagataaccacacaaaaaatcctttgtaaaatttctgat       c.*1800

          .         .         .         .         .         .       g.65600
 tgataggattagagtgcttaaatttttggggggggaagggtggggtaaagtgtaagtgct       c.*1860

          .         .         .         .         .         .       g.65660
 ttcttttgtccctaacttgtgtattgatggcagtccactctgttttctaaaaatgtattt       c.*1920

          .         .         .         .         .         .       g.65720
 tactgtggtgcttaacttcttattaattaaatcccgtatcagaaaccttgcctgtgactt       c.*1980

          .         .         .         .         .         .       g.65780
 tagaaagggcttttgattattgttttttcttcttgctcttgaaagtaatctggtcccagg       c.*2040

          .         .         .         .         .         .       g.65840
 gaattactggtttaactgaacatctccagaattatttaaggtgtcaaaatatataacctt       c.*2100

          .         .         .         .         .         .       g.65900
 cacattgaaagataattttaatttatgggcataataaaaatttgaatcattcaggtaatt       c.*2160

          .         .         .         .         .         .       g.65960
 ttcaaaaaatggagaccatttgtctttaactgaaggtatatgtttaagatcatagtctac       c.*2220

          .         .         .         .         .         .       g.66020
 cctagtatggtgctttgccacaaagtgatttctgaagaatggttctttttaagataatga       c.*2280

          .         .         .         .         .         .       g.66080
 cttcatatgatcattgtttcatgttacttgccacaaataactttaatttaggttgaaact       c.*2340

          .         .         .         .         .         .       g.66140
 ggaactgtttgtttctcatattagctacttctctattaggagcacaagaaccatagttaa       c.*2400

          .         .         .         .         .         .       g.66200
 atgcaacatgagctactttagtcctgtttgtttaaatttgtgttgtccatgtattatgat       c.*2460

          .         .         .         .         .         .       g.66260
 ttattaacttgttgatgcatgtaaattgggtgcattttgttgccatgtatgttaaatggt       c.*2520

          .         .         .         .         .         .       g.66320
 gaccaatgtttttacaaaggaattgaacaaaaaaagtatcttttaagaaatttggaatgt       c.*2580

          .         .         .         .         .         .       g.66380
 ggttttgattttgaaatttgatttcttactaatctcagagggccttggtatattctgtta       c.*2640

          .         .         .         .         .         .       g.66440
 ctaaagcaaacaggattaatgaatacggatttgttacaaggtggcagcaatgtcactgag       c.*2700

          .         .         .         .         .         .       g.66500
 atagtgaatggaacaatttaccacctccctggaatctgcacctgagatacaacatcagcg       c.*2760

          .         .         .         .         .         .       g.66560
 tatgagtgaagagtgagcccatagaaaagctttagatagactcacataagtcacactgat       c.*2820

          .         .         .         .         .         .       g.66620
 gggtatttacagcagatatatccaagctgtttatgtaatagtctcatttactttattctt       c.*2880

          .         .         .         .         .         .       g.66680
 tttctctagaacataaattttgaaggtaatggaagtttatcttttataccaaaagtttgt       c.*2940

          .         .         .         .         .         .       g.66740
 atgagccattttgaagtaaatctttctaattttagaattatattttctcgccatcttaag       c.*3000

          .         .         .         .                           g.66782
 acagtatattaaatataatataacctttttcttagtggctaa                         c.*3042

 (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 65 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.