RNA binding motif protein 8A (RBM8A) - coding DNA reference sequence

(used for mutation description)

(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the RBM8A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering RBM8A transcript NM_005105.4.
Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.1050
           agagttagcctttgattggtcagcttgactggcgacctttcccctctgcg       c.-61

 .         .         .         .         .         .                g.1110
 acagtttcccgaggtacctagtgtctgagcggcacagacgagatctcgatcgaaggcgag       c.-1

          .         .         .         .         .         .       g.1170
 ATGGCGGACGTGCTAGATCTTCACGAGGCTGGGGGCGAAGATTTCGCCATGGATGAGGAT       c.60
 M  A  D  V  L  D  L  H  E  A  G  G  E  D  F  A  M  D  E  D         p.20

         | 02.         .         .         .         .         .    g.1512
 GGGGACG | AGAGCATTCACAAACTGAAAGAAAAAGCGAAGAAACGGAAGGGTCGCGGCTTT    c.120
 G  D  E |   S  I  H  K  L  K  E  K  A  K  K  R  K  G  R  G  F      p.40

         | 03.         .         .         .         .         .    g.1703
 GGCTCCG | AAGAGGGGTCCCGAGCGCGGATGCGTGAGGATTATGACAGCGTGGAGCAGGAT    c.180
 G  S  E |   E  G  S  R  A  R  M  R  E  D  Y  D  S  V  E  Q  D      p.60

          .         .      | 04  .         .         .         .    g.1953
 GGCGATGAACCCGGACCACAACGCT | CTGTTGAAGGCTGGATTCTCTTTGTAACTGGAGTC    c.240
 G  D  E  P  G  P  Q  R  S |   V  E  G  W  I  L  F  V  T  G  V      p.80

          .         .         .         .         .         .       g.2013
 CATGAGGAAGCCACCGAAGAAGACATACACGACAAATTCGCAGAATATGGGGAAATTAAA       c.300
 H  E  E  A  T  E  E  D  I  H  D  K  F  A  E  Y  G  E  I  K         p.100

          .         .         .         .   | 05     .         .    g.2377
 AACATTCATCTCAACCTCGACAGGCGAACAGGATATCTGAAG | GGGTATACTCTAGTTGAA    c.360
 N  I  H  L  N  L  D  R  R  T  G  Y  L  K   | G  Y  T  L  V  E      p.120

          .         .         .         .         .         .       g.2437
 TATGAAACATACAAGGAAGCCCAGGCTGCTATGGAGGGACTCAATGGCCAGGATTTGATG       c.420
 Y  E  T  Y  K  E  A  Q  A  A  M  E  G  L  N  G  Q  D  L  M         p.140

          .         .         .         .         .          | 06    g.2610
 GGACAGCCCATCAGCGTTGACTGGTGTTTTGTTCGGGGTCCACCAAAAGGCAAGAGGAG | A    c.480
 G  Q  P  I  S  V  D  W  C  F  V  R  G  P  P  K  G  K  R  R  |      p.160

          .         .         .         .                           g.2655
 GGTGGCCGAAGACGCAGCAGAAGTCCAGACCGGAGACGTCGCTGA                      c.525
 G  G  R  R  R  S  R  S  P  D  R  R  R  R  X                        p.174

          .         .         .         .         .         .       g.2715
 caggtcctctgttgtccaggtgttctcttcaagattccatttgaccatgcagccttggac       c.*60

          .         .         .         .         .         .       g.2775
 aaataggactggggtggaacttgctgtgtttatatttaatctcttaccgtatatgcgtag       c.*120

          .         .         .         .         .         .       g.2835
 tatttgagttgcgaataaatgttccatttttgttttctacatttaatgttactttcctgt       c.*180

          .         .         .         .         .         .       g.2895
 cctaaaattgaaagttctaaagcatagcaaggctgtatggatcattgtgaagatacttct       c.*240

          .         .         .         .         .         .       g.2955
 agggactgaactctatgtatttcttttttttcttttttttgagatagagtcttgctgtgt       c.*300

          .         .         .         .         .         .       g.3015
 tacccagggtggattgcagctgatcatagctcactgcagcttcaaactcttgggctcaag       c.*360

          .         .         .         .         .         .       g.3075
 ccatccttctgcctcactgtccctagtagttgggattacaggcacatgccaccatgccca       c.*420

          .         .         .         .         .         .       g.3135
 gctaaatttttaatatttttgtagagatggggtcttgctgtgttacctgggctagttatg       c.*480

          .         .         .         .         .         .       g.3195
 tgagtttctatattagacatagtctcaagtttcaggtagggtttaaagtagagacactgg       c.*540

          .         .         .         .         .         .       g.3255
 tcagtatttcttttttggggggaactaggagagcaggagtagaagtgagatgttaagatc       c.*600

          .         .         .         .         .         .       g.3315
 ttatggcactaaagacttactattctgttcctacatactctgttaggatcagatagatgt       c.*660

          .         .         .         .         .         .       g.3375
 tatagaaatgccttttgtttctcctgcccttcttgatgtcacagttttttgtacttccag       c.*720

          .         .         .         .         .         .       g.3435
 ctgtctaaaggcatgaatctcctcttggagcattctcccagacccttctttagaagagtc       c.*780

          .         .         .         .         .         .       g.3495
 tatactaagttcttggtgccctcttcggcagccaagggtgaaggccccatagaggagagg       c.*840

          .         .         .         .         .         .       g.3555
 atccaaaggagcattgaggaggcccaagaggaaaaggatgtggctcaggctgggagggac       c.*900

          .         .         .         .         .         .       g.3615
 ttcagttagcatggtgggggagaaccagtaccacatacccagtaggtaataaggtgtcca       c.*960

          .         .         .         .         .         .       g.3675
 gcagaggatgaaggtcagcaagataagcagggccagtctcagggcccggagacgaacacg       c.*1020

          .         .         .         .         .         .       g.3735
 gggacaattgtcaaaggagcgggggagggcaaattcaccagcaggggctaggaatttaga       c.*1080

          .         .         .         .         .         .       g.3795
 aaatatactgtaattcagacactcagcttctgatctgagtatagggtgaattgatggagg       c.*1140

          .         .         .         .         .         .       g.3855
 ggcatagctagtgagacagagctcacctcctacaaggaggagaatgttgcaaaccgtttt       c.*1200

          .         .         .         .         .         .       g.3915
 ccccttcccaacctgggactatatgatttcttacccccagggattatgatagaaatatga       c.*1260

          .         .         .         .         .         .       g.3975
 agccaccaagtctagacttgatggtgttcaagaataaataatactgattgcctccctagt       c.*1320

          .         .         .         .         .         .       g.4035
 ccttgtccagctaactcagctgtttataattgaagggattcaacaaaattatctctagca       c.*1380

          .         .         .         .         .         .       g.4095
 tcaggtgctagacatggttagaatctcaccatggtttagtgactggtagatagctattag       c.*1440

          .         .         .         .         .         .       g.4155
 gtaggtagataaataaatgatgctagaggcaacaggtctagggttaaggattaaggcctg       c.*1500

          .         .         .         .         .         .       g.4215
 ggaattggagtctcaccatggctccccttccttgtctggggcctggacacactgaggaca       c.*1560

          .         .         .         .         .         .       g.4275
 atgcggctatagcagatggccatggcagtcagtggcagcagaaagaggcagcagaaggtg       c.*1620

          .         .         .         .         .         .       g.4335
 aagaggttataggtggtctcttgccattgagccttgaagctgcctttggtgacacactga       c.*1680

          .         .         .         .         .         .       g.4395
 gtgaaagggactgggccagctcagtggaccgtgtggaacaggaacagctggagtggagtt       c.*1740

          .         .         .         .         .         .       g.4455
 gaggactattagaactggttcccctcaccacccaacctacccacctatgtcatactgtct       c.*1800

          .         .         .         .         .         .       g.4515
 cctcccaattcatccttaattccaagtgaagcagcacagtgctgagaaacagttcatcca       c.*1860

          .         .         .         .         .         .       g.4575
 tggtgccatgttaaagaagttggaaatatatcttgaaaatcctatcttccttttaggctt       c.*1920

          .         .         .         .         .         .       g.4635
 gaatatgatgctgaacagtaagtttgttaaatcttggaacttaaaacaatcctgctttct       c.*1980

          .         .         .         .         .         .       g.4695
 caagtactattctaacattgcgctttataagggatgatatttctaccacctcactcatat       c.*2040

          .         .         .         .         .         .       g.4755
 ttttagctgaaatgattttcctggtatgtctgttattttgtggaaaaagaaatattgtgt       c.*2100

          .         .         .         .         .         .       g.4815
 aaaatgggtgctgccaaaattccaggccattttgcagggactctgaagtgacctttagta       c.*2160

          .         .         .         .         .         .       g.4875
 gtaatagtcttatgtgcagtaactataatggtaaagaatgttaaataataaaatttaaca       c.*2220

          .         .         .         .         .         .       g.4935
 ttttccaaatgctattgggctgcccctccccctttttgttaaattgctgggttttccaac       c.*2280

          .         .         .         .         .         .       g.4995
 tgaatcagtaaaaactatttctgtttagagctacaaggttaaagtgcctgctttccagta       c.*2340

          .         .         .         .         .         .       g.5055
 atggagattgagtcactattaatttgataaaaggtaagctcagtaggcatcagattccta       c.*2400

          .         .         .         .         .         .       g.5115
 gatacaaggcatttgggaaagtgattttagcagacatgagggacatttaggaaagatgaa       c.*2460

          .         .         .         .         .         .       g.5175
 tagtttcagcctaagagaattttgtgaactgtttggagttacgatcaggctactctgagc       c.*2520

          .         .         .         .         .         .       g.5235
 tagttgggaaatggtctttcctcttcccatctcttgcattcatatatttctaagtttttt       c.*2580

          .         .         .         .         .         .       g.5295
 ttttttttttgtttttgtgctctgcctaagaagtgcttgagaattgtgaggagtataaaa       c.*2640

          .         .         .         .         .         .       g.5355
 atagtcaaagctggctgggcgcggtggctcacgcctgtaatcccagcactttgggaggct       c.*2700

          .         .         .         .         .         .       g.5415
 gaggcgggcggatcacgaggttaggagatggagaccatcctggctaacacagtgaaaccc       c.*2760

          .         .         .         .         .         .       g.5475
 tgtctgtactaaagatacaaaaaactagccgggcgtggtggtaggtgcctgtagtcccag       c.*2820

          .         .         .         .         .         .       g.5535
 ctacttgggaactcgggaggctgaggcaggagaatgacctgaacccaggaggcggagctt       c.*2880

          .         .         .         .         .         .       g.5595
 gcagtgagcagagattgcgccattgcactccagcctgggcgacagagtaagactgtctcc       c.*2940

          .         .         .         .         .         .       g.5655
 aaaaaaaaaaaaaataataatcaaagctcttggatttatagtttggtccacagccttgtt       c.*3000

          .         .         .         .         .         .       g.5715
 ttgatctttcctttatcctgttttattgccatttaccacgtactgtagaaacatcccttt       c.*3060

          .         .         .         .         .         .       g.5775
 caactgctgataacttggaaacaagcctacaaaaataagtaatttctaactactcctaat       c.*3120

          .         .         .         .         .         .       g.5835
 actacctataactacccctaagcccttaccactctaacgtgacattattaaattttttat       c.*3180

          .         .         .         .         .         .       g.5895
 tttattaacactaatattttaactacaattacagcatatgggcaatacagaatttaccta       c.*3240

          .         .         .         .         .         .       g.5955
 aaaggatactaatttggaacaaaaaaaatcacctttcgcacatgtatcatgtcacaacca       c.*3300

          .         .         .         .         .         .       g.6015
 gtttgccattgaaacaaatagaggttgcaaatattgtcagattgtcaggctgtaagaaag       c.*3360

          .         .         .         .         .         .       g.6075
 gatgaaattcatttcccattgcatcatcttgtggcccatggatttcaagtgccttagcca       c.*3420

          .         .         .         .         .         .       g.6135
 aaatcatatagctagttagcagtagagccgagactcagaaaaaaacaaagtaaaacaggc       c.*3480

          .         .         .         .         .         .       g.6195
 agactgaaacaaaaagtcttctaattcccagtccacatgtaaaatttgcttcatataaac       c.*3540

          .         .         .         .         .         .       g.6255
 aaacctaattgtaaatggcactgtagcaacaggcttctttttaacacttggattggtaaa       c.*3600

          .         .         .         .         .         .       g.6315
 ggtcttgtttgcaacatattagaagtattatttttctctttcccccccaccccaccccca       c.*3660

          .         .         .         .         .         .       g.6375
 acagagtctggctctgccgcccacgccggagtgcagtggtgcagtcttggctcactgcag       c.*3720

          .         .         .         .         .         .       g.6435
 cctccacttcccaggttcaagcaattctcgtgcctcagcctcctgagtagttgggattac       c.*3780

          .         .         .         .         .         .       g.6495
 aggtgctcaccactatacccggctaatttttgtatttttagtagagatggggtttcgtca       c.*3840

          .         .         .         .         .         .       g.6555
 tgttggccaggttggtcttaaactcctgacctcaagtgatccacccaccttggccttcca       c.*3900

          .         .         .         .         .         .       g.6615
 aaatgctgggattacaggcttgagccaccaggcctttctttgttcttaggagtatagtca       c.*3960

          .         .         .         .         .         .       g.6675
 gactaacttctagtagttatatttctaataattgaggatgtaagtaaggatcaaatctta       c.*4020

          .         .         .         .         .         .       g.6735
 aatcagtataatgcattgtcattccagagataaatcctagacccttcttggcctccttct       c.*4080

          .         .         .         .         .         .       g.6795
 gacataattctaatcctacagtctcagagatgctgttgtatcctgccccccaaccccatg       c.*4140

          .         .         .         .         .         .       g.6855
 atagtgatagtggtttttgccttgaaggaattgctttgtatttagcttttccccctctag       c.*4200

          .         .         .         .         .         .       g.6915
 atttctagttccttttcagtattggattggatttgagatttgattaacctagtactcagg       c.*4260

          .         .         .         .         .         .       g.6975
 ttcagatgctcgcctctttgcaattttaacactcattcgacaataaagtcagtaaaaaac       c.*4320

                                                                    g.6980
 acaaa                                                              c.*4325

 (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 RNA binding motif protein 8A 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.