ubiquitin-conjugating enzyme E2Q family-like 1 (UBE2QL1) - coding DNA reference sequence

(used for variant description)

(last modified August 11, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_001145161.2 in the UBE2QL1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering UBE2QL1 transcript NM_001145161.2.
Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                               .         .         .                g.5031
                              gcagcagcagcagcaccccgggggcgcgggc       c.-241

 .         .         .         .         .         .                g.5091
 gacgccagcccgggacccggcaagggaaagggcaagcgcgcggcggagctggccccgcgc       c.-181

 .         .         .         .         .         .                g.5151
 gacaaggcgccggcggctgcggcggcggcggcggcggctgcggcgggggccgggggcccc       c.-121

 .         .         .         .         .         .                g.5211
 cgcgagagggcagcgggcgccagggcggggccgggcccggcggtggcggcggcggcgggc       c.-61

 .         .         .         .         .         .                g.5271
 ggcagcctggtccccgcggcgcgccagcaacactgcacgcaggtgcgcagccggcggctc       c.-1

          .         .         .         .         .         .       g.5331
 ATGAAGGAGCTGCAGGACATCGCGCGCCTTAGCGACCGCTTCATCTCCGTGGAGCTGGTG       c.60
 M  K  E  L  Q  D  I  A  R  L  S  D  R  F  I  S  V  E  L  V         p.20

          .         .         .         .         .         .       g.5391
 GACGAGAGCCTGTTCGACTGGAACGTGAAGCTGCACCAGGTGGACAAGGACTCGGTGCTG       c.120
 D  E  S  L  F  D  W  N  V  K  L  H  Q  V  D  K  D  S  V  L         p.40

          .         .         .         .         .         .       g.5451
 TGGCAGGACATGAAGGAGACCAACACCGAGTTCATCCTGCTCAACCTCACCTTCCCCGAC       c.180
 W  Q  D  M  K  E  T  N  T  E  F  I  L  L  N  L  T  F  P  D         p.60

          .         .         .         .         .         .       g.5511
 AACTTCCCCTTCTCGCCGCCCTTCATGCGGGTGCTCAGCCCGCGCCTGGAGAACGGCTAC       c.240
 N  F  P  F  S  P  P  F  M  R  V  L  S  P  R  L  E  N  G  Y         p.80

          .         .         .         .         .         .       g.5571
 GTGCTGGACGGCGGCGCCATCTGCATGGAGCTGCTCACGCCGCGCGGCTGGTCCAGCGCC       c.300
 V  L  D  G  G  A  I  C  M  E  L  L  T  P  R  G  W  S  S  A         p.100

          .         .         .         .         .     | 02   .    g.47601
 TACACCGTGGAGGCCGTCATGCGCCAGTTCGCAGCCAGCCTGGTCAAGGGCCAG | GGACGG    c.360
 Y  T  V  E  A  V  M  R  Q  F  A  A  S  L  V  K  G  Q   | G  R      p.120

          .         .         .         .         .         .       g.47661
 ATCTGTAGAAAAGCTGGCAAATCAAAAAAGTCCTTCAGTCGCAAGGAAGCTGAAGCTACC       c.420
 I  C  R  K  A  G  K  S  K  K  S  F  S  R  K  E  A  E  A  T         p.140

          .         .         .         .         .         .       g.47721
 TTTAAGAGTTTGGTGAAGACGCATGAAAAATATGGTTGGGTCACCCCGCCCGTGTCCGAC       c.480
 F  K  S  L  V  K  T  H  E  K  Y  G  W  V  T  P  P  V  S  D         p.160

                                                                    g.47727
 GGCTGA                                                             c.486
 G  X                                                               p.161

          .         .         .         .         .         .       g.47787
 tgtctgccacgtgcagtagacgctcgagcgcctgtccacacacacaccagtaccctgaca       c.*60

          .         .         .         .         .         .       g.47847
 tctcctcaatgctgtgcatcctccacccgtttttactccagccagaactgcatcctgaat       c.*120

          .         .         .         .         .         .       g.47907
 gcccaggagacgtttaagttatttatgaaaagatgtgtgtacagagaggaagagggagca       c.*180

          .         .         .         .         .         .       g.47967
 aatgccgttcggattatgtttcgattataaatgaatgatcacctcgaagtcactttagaa       c.*240

          .         .         .         .         .         .       g.48027
 cacatgttgagatggtgacatttcccagcctgcctgcccctctgcccaccccggtcacat       c.*300

          .         .         .         .         .         .       g.48087
 tgccctgagcttctttccatgacagcagctccgacgagccggcaggaaactcaatgcccc       c.*360

          .         .         .         .         .         .       g.48147
 tgctggctccatttccatgtaaatggcgccgttcatatttcacagggacgccgtgcatct       c.*420

          .         .         .         .         .         .       g.48207
 ccgccgtgcgtccccggcacgtgtttgctgtgctctgtatctctgtttttcttcctggaa       c.*480

          .         .         .         .         .         .       g.48267
 ggtcaacataacttgaaaatgtgtctttctgtggcccatggtccgctgtgatgacattta       c.*540

          .         .         .         .         .         .       g.48327
 gacctcatttgtgctatgacctttggctcatgaaaacacaaatttaacattgccaggttc       c.*600

          .         .         .         .         .         .       g.48387
 tagtgatttaaaaccacaactgcccacttggtgaaaacgtgctctcgatgctgatttgtg       c.*660

          .         .         .         .         .         .       g.48447
 gtgtgctgctgtccacagataaaccagtgccattagatggaaggcagaggatactgcgac       c.*720

          .         .         .         .         .         .       g.48507
 cacccctggcagacggtggcgtagacaccaggtgcgccctctggggctcagagcaacgga       c.*780

          .         .         .         .         .         .       g.48567
 tggtcagctgcgaacagtctcgtccgatgttaggaaatggtcctacggccgcgcctttgt       c.*840

          .         .         .         .         .         .       g.48627
 gttcctgtcttctctccaccaccaaaagcaaaagatgatttcccattcactgcagtcatc       c.*900

          .         .         .         .         .         .       g.48687
 tgactcattttaatatctgtgctagtgacaatgaatgtcagaactgccaaaggataccaa       c.*960

          .         .         .         .         .         .       g.48747
 gtgatcatacgatgatttgcatgatcgggtctatttcacccaatagtcacttgtgtgtcc       c.*1020

          .         .         .         .         .         .       g.48807
 cccgaaattgggatgggtgagcacccttgctgtggtgtaaacttcctgttatttaatctc       c.*1080

          .         .         .         .         .         .       g.48867
 ccccacggtttcatttttctcttctgttaatacttagaactttctaagaaactccatgaa       c.*1140

          .         .         .         .         .         .       g.48927
 atgaggaaatactgtttctaataatatgaggaaagaagtaaaaatgttcattccaagtgg       c.*1200

          .         .         .         .         .         .       g.48987
 caagtcttattggacacattttaaataaaatcatgcatacctgatacactgcctcaagga       c.*1260

          .         .         .         .         .         .       g.49047
 tccagtcattgtgggctatccttccatttaaaatatttcagatattcttaaattttttaa       c.*1320

          .         .         .         .         .         .       g.49107
 atattgcaaatactacaacatgtaattccagagcagcgttctaagtcaggtaccagaaat       c.*1380

          .         .         .         .         .         .       g.49167
 gagtcttaggaacccatagtctttgcaaaaattcagtagattgaaatagtccccagaagc       c.*1440

          .         .         .         .         .         .       g.49227
 agccaaggagctgaagggatgattcgatcaagttcagatgttgccaattgtatcttactg       c.*1500

          .         .         .         .         .         .       g.49287
 ctgtgaaggaggaaaagtcttccgggataatgtattcaattcttcaggcagttttgtcta       c.*1560

          .         .         .         .         .         .       g.49347
 cttggggacctgcccattggttcaaggttttcagagatccaagaggccttgcctcaaaga       c.*1620

          .         .         .         .         .         .       g.49407
 acaaggattggcgcctttcagcagggctgcccattcaccaaacttattgttacttttgtt       c.*1680

          .         .         .         .         .         .       g.49467
 tttctttaccactttcttatttgcccccaagtgcacacaggcagctctgccagaccaaaa       c.*1740

          .         .         .         .         .         .       g.49527
 tgacagtgtattaagaatgcagggcctgctcagcttccctgtgagtcataatagtcgtga       c.*1800

          .         .         .         .         .         .       g.49587
 aacttgatgacagtgaacttacgatgttcattcatccaaccctctatggtggcattctcc       c.*1860

          .         .         .         .         .         .       g.49647
 atcctggaaacctgacatttggctgacggtctttggaccctggagctagtggtcatcatg       c.*1920

          .         .         .         .         .         .       g.49707
 gaattacactgtggagatgaaagacctaggacagaaacatcttgctagggaaagcacctg       c.*1980

          .         .         .         .         .         .       g.49767
 agtttattcctttctaaatattttcctcttctaatgaaaactaaaagcagctttacttta       c.*2040

          .         .         .         .         .         .       g.49827
 gggggaaaaatatatccaaaggcaggtcatttcagtagtgtttattagctgattgaaaaa       c.*2100

          .         .         .         .         .         .       g.49887
 caggttcacggtgctctctgagaactgcaccaaggggtgcagccaagagactggtctgac       c.*2160

          .         .         .         .         .         .       g.49947
 cccgggttgggctgggtggcagccggcgacagagcagagagacactcagctcagtgtcgc       c.*2220

          .         .         .         .         .         .       g.50007
 tccttccatacactcagagtttgatttttcttgcatggcatttccattaggtttgttaga       c.*2280

          .         .         .         .         .         .       g.50067
 aacttatagaagaaatcaattctttagtgaacgaaataccatttttcactcaattggtaa       c.*2340

          .         .         .         .         .         .       g.50127
 gaatttttcattttaaaagcagtaggaagtgatgtaaaactctaccattgcttggactgt       c.*2400

          .         .         .         .         .         .       g.50187
 taggagtgcggactccctttctggtagactcccttcgtaggcaagcacggtggtgcccag       c.*2460

          .         .         .         .         .         .       g.50247
 ccatggaggcacccttaggacactgagcacaggcctggctgcctgtgccttggccacagc       c.*2520

          .         .         .         .         .         .       g.50307
 ctccttccaccccactgaagtggacacctgcctctggagcccagggtgagaaggagaggc       c.*2580

          .         .         .         .         .         .       g.50367
 ctgaagcctggggccacgttcccacacaagccaaggaacctattcctctttggacagaca       c.*2640

          .         .         .         .         .         .       g.50427
 gcgagggaataatcagacagtgggtgcaaatgttcatgtcccgatagctccacacaccca       c.*2700

          .         .         .         .         .         .       g.50487
 tgtatctgtgggaactcaaaccaagccagagcccacagagccaaacaaacagaaaatcac       c.*2760

          .         .         .         .         .         .       g.50547
 aaacccatctgtcctcttctcaatgcagaactccttcccgtccaataattttcctgaacc       c.*2820

          .         .         .         .         .         .       g.50607
 aatcacccttgttattgggtatcttctccactgctgggtaaggcctgcacatggtctgtc       c.*2880

          .         .         .         .         .         .       g.50667
 tgtaactttctagaagactgagaactgcttatgccttagggagttctatgtgagcagcaa       c.*2940

          .         .         .         .         .         .       g.50727
 ggttattccccctagttacacacacacgcacatgtgccaatactcctgcaaagacttgct       c.*3000

          .         .         .         .         .         .       g.50787
 gtttctaaaatccactactcagaaaaaccagggtgtcggcttaaagttttcagctccatc       c.*3060

          .         .         .         .         .         .       g.50847
 tatcaaaatttgacctttttttaagagaaaaatatgtagatgagtgaaaaagacctagga       c.*3120

          .         .         .         .         .         .       g.50907
 ttgaaagacaaaaagccatgtgtccatgtaaccctggccagtcactccacctgcctgagc       c.*3180

          .         .         .         .         .         .       g.50967
 cttggtttcctcagctgtgagctcctaccaggtcagtgtgggaattggccaaaatgacgc       c.*3240

          .         .         .         .         .         .       g.51027
 agcagaagtgctttggagactaaagattgtcaacgaaatgtaagtgtcattttcgtagta       c.*3300

          .         .         .         .         .         .       g.51087
 ttaggacgtttacattacagcaggctttaattagaacccacttagatatcgactcagaat       c.*3360

          .         .         .         .         .         .       g.51147
 gatcaattacagtggttaaaatacacatacctggtaatcatatacttgctttctgtcccc       c.*3420

          .         .         .         .         .         .       g.51207
 agttcttacattaagtcaaccaactgacccaaaaatcaaccaataactaactggccatct       c.*3480

          .         .         .         .         .         .       g.51267
 ctccactcactcagcattctcctcttaaatgcagggcatgcagaagattaaggtacagcc       c.*3540

          .         .         .         .         .         .       g.51327
 ccttccctggataggaactcaaaagataggaatagcgcacaggcaccagcaccaagcaag       c.*3600

          .         .         .         .         .         .       g.51387
 gcaagtgccaaattgcactgcagaaattaaagacatgtgcaagtccagagattttctgac       c.*3660

          .         .         .         .         .         .       g.51447
 tgaaaaccagaaagatttcatggagtaaatcaggtttgagccatggctgggcaaagggaa       c.*3720

          .         .         .         .         .         .       g.51507
 ggagaagggcaggtgtagcaggtgtagaaatgggaggggctgagggcaccttgaaaggga       c.*3780

          .         .         .         .         .         .       g.51567
 gcgtggactctgtcctcactggccctgaacgggagaactggagtccccttgccacctctc       c.*3840

          .         .         .         .         .         .       g.51627
 acctgcagagtccctattcatggagctgatttcaggaagcaggacacggtcccacctgac       c.*3900

          .         .         .         .         .         .       g.51687
 agcctagcctggcgtgtggagcttgccctgtgtgtagcaattatatttcagtgtacccat       c.*3960

          .         .         .         .         .         .       g.51747
 ccaatagcatgcgaaattttaatggaatttgctttctaaaggggcagagcttacttcctg       c.*4020

          .         .         .         .         .         .       g.51807
 actgtagtgagggtagagccactgaatctggaagaccacttagcctaattttacaccctc       c.*4080

          .         .         .         .         .         .       g.51867
 tgcagtgaaggaggcgagcccagagactttgaggggcttgtccacagtaggacaggagcc       c.*4140

          .         .         .         .         .         .       g.51927
 acaaggccactgccttactgtggctttctgatcctttatgttgcttcatgagactattag       c.*4200

          .         .         .         .         .         .       g.51987
 gcaattcatgtggccctcaccaaacacacactcttcaccccatcattgaatcagtacagt       c.*4260

          .         .         .         .         .         .       g.52047
 tgcaagtcttccaagccagctgagaaacacccacaggatccattctgtgcccaaagcaaa       c.*4320

          .         .         .         .         .         .       g.52107
 ttggagcaaagggcagaaattccctccaactgttttgggaagcttctgtaaggggcttgg       c.*4380

          .         .         .         .         .         .       g.52167
 agctcagcctatgggactgtagtcagaactttgtaatttttttctccaaagacagtgaaa       c.*4440

          .         .         .         .         .         .       g.52227
 tcatgtacagctctgttcttagttttctgctaggttctacttatccttctaatttttgca       c.*4500

          .         .         .         .         .         .       g.52287
 gcctctagttcccatagtattaaatatcatttttaagcccagggcctgtctgatccacag       c.*4560

          .         .         .         .         .         .       g.52347
 aatgtggtcaataatctggaaaggcaaacaaactctgttgacattcgggaaagcaataag       c.*4620

          .         .         .         .         .         .       g.52407
 taatgttagtttggttccagaagaaacacgggagcaaagtgtgctggccaaacagcaaca       c.*4680

          .         .         .         .         .         .       g.52467
 atcaaagcagaggggagcaagattttctttcaaggtcatgataaggctagacaaatagag       c.*4740

          .         .         .         .         .         .       g.52527
 tgcaatgagggggtcaggtgcgaggccgtcctcccaggtcagtaaggccgcatggaggga       c.*4800

          .         .         .         .         .         .       g.52587
 taaagagatccctgcactgcccccaaccgccaattcaccctgtgtctctcgcagaattaa       c.*4860

          .         .         .         .         .         .       g.52647
 agccaggaggtggctttctctttccttctactggtggtaaattaagtgactgtcctactt       c.*4920

          .         .         .         .         .         .       g.52707
 tgtagacatgcaatcgttttgtacctctagaccttgggcagtcactggtgatgacactaa       c.*4980

          .         .         .         .         .         .       g.52767
 ttgaactaacacagaaactgctgtcacctgatgtgcttggtttcattcctgcctgccttc       c.*5040

          .         .         .         .         .         .       g.52827
 tctacaacgtgacttcatttcatgaatgtggttgccattatgacagtgctaggatgctga       c.*5100

          .         .         .         .         .         .       g.52887
 tctgtacaccatgagtgactgcgaactttcagactctcaccgcaattcatggggagactt       c.*5160

          .         .         .         .         .         .       g.52947
 tggtgtatcctgtttccagagttgtcctcttctgtgatcctcaaaagaagagaaaaaaac       c.*5220

          .         .         .         .         .         .       g.53007
 gcatgtggcataaatcaacaggaaagaaatgtttaccactggaagatggtgagtgcatga       c.*5280

          .         .         .         .         .         .       g.53067
 gtcaaataatctagaggcactgccctaatgagaaaaaaaaaacaatgattctagaaaata       c.*5340

          .         .         .                                     g.53099
 aaactttaaaaccaataaacgtctttacacgg                                   c.*5372

 (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 Ubiquitin-conjugating enzyme E2Q family-like 1 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.