splicing factor 3b, subunit 4, 49kDa (SF3B4) - coding DNA reference sequence

(used for variant description)

(last modified July 20, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_005850.4 in the SF3B4 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_032777.1, covering SF3B4 transcript NM_005850.4.

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

 (upstream sequence)
                                                   .                g.5013
                                                aaatcagggttgt       c.-481

 .         .         .         .         .         .                g.5073
 gaggccaaatctgcaagaaggctgcaggcgagagggaaggctccctctgcgcctgaaagc       c.-421

 .         .         .         .         .         .                g.5133
 ccccaagtcctcgggttggggggaactcttcagcacatccttctctggacaacagaagaa       c.-361

 .         .         .         .         .         .                g.5193
 gaatcactgtccacaaaatatattaaaactgaaatttttgttcttttagctttcgaattt       c.-301

 .         .         .         .         .         .                g.5253
 acacttttgagagcagtgtgattctttcaagtctagcagtgcattaagagggcctgagcg       c.-241

 .         .         .         .         .         .                g.5313
 tttccgttccgccctcctcgctaagacaactagcagcggcacctcaggacgcgagccgag       c.-181

 .         .         .         .         .         .                g.5373
 gactctaccgcccgacccaggttaagtttcggaggctcctaagatggctgcagccgcttc       c.-121

 .         .         .         .         .         .                g.5433
 caggcacctcctcttccgcggccccgcccaccgctacgtccgtcttcgccccggaagtgg       c.-61

 .         .         .         .         .         .                g.5493
 aagtcgtgctgaggtcagaaggcggaaccgctgctgggagacggcgggatctctttcgcc       c.-1

          .         .         .     | 02   .         .         .    g.5984
 ATGGCTGCCGGGCCGATCTCCGAGCGGAATCAGG | ATGCCACTGTGTACGTGGGGGGCCTG    c.60
 M  A  A  G  P  I  S  E  R  N  Q  D |   A  T  V  Y  V  G  G  L      p.20

          .         .         .         .         .         .       g.6044
 GATGAGAAGGTTAGTGAACCGCTGCTGTGGGAACTGTTTCTCCAGGCTGGACCAGTAGTC       c.120
 D  E  K  V  S  E  P  L  L  W  E  L  F  L  Q  A  G  P  V  V         p.40

          .         .         .         .    | 03    .         .    g.6351
 AACACCCACATGCCAAAGGATAGAGTCACTGGCCAGCACCAAG | GCTATGGCTTTGTGGAA    c.180
 N  T  H  M  P  K  D  R  V  T  G  Q  H  Q  G |   Y  G  F  V  E      p.60

          .         .         .         .         .         .       g.6411
 TTCTTGAGTGAGGAAGATGCTGACTATGCCATTAAGATCATGAACATGATCAAACTCTAT       c.240
 F  L  S  E  E  D  A  D  Y  A  I  K  I  M  N  M  I  K  L  Y         p.80

          .         .         .         .         .         .       g.6471
 GGGAAGCCAATACGGGTGAACAAAGCATCAGCTCACAACAAAAACCTGGATGTAGGGGCC       c.300
 G  K  P  I  R  V  N  K  A  S  A  H  N  K  N  L  D  V  G  A         p.100

          .         .         .         .         .         .       g.6531
 AACATTTTCATTGGGAACCTGGACCCTGAGATTGATGAGAAGTTGCTTTATGATACTTTC       c.360
 N  I  F  I  G  N  L  D  P  E  I  D  E  K  L  L  Y  D  T  F         p.120

          .         .         .         .         .         .       g.6591
 AGCGCCTTTGGGGTCATCTTACAAACCCCCAAAATTATGCGGGACCCTGACACAGGCAAC       c.420
 S  A  F  G  V  I  L  Q  T  P  K  I  M  R  D  P  D  T  G  N         p.140

          .         .         .         .         .         .       g.6651
 TCCAAAGGTTATGCCTTTATTAATTTTGCTTCATTTGATGCTTCGGATGCAGCAATTGAA       c.480
 S  K  G  Y  A  F  I  N  F  A  S  F  D  A  S  D  A  A  I  E         p.160

          .         .         .         .         .         .       g.6711
 GCCATGAATGGGCAGTACCTCTGTAACCGTCCTATCACCGTATCTTATGCCTTCAAGAAG       c.540
 A  M  N  G  Q  Y  L  C  N  R  P  I  T  V  S  Y  A  F  K  K         p.180

          .         .         .         .         .         .       g.6771
 GACTCCAAGGGTGAGCGCCATGGCTCAGCAGCCGAACGACTTCTGGCAGCTCAGAACCCG       c.600
 D  S  K  G  E  R  H  G  S  A  A  E  R  L  L  A  A  Q  N  P         p.200

          .         .         .         .         .         .       g.6831
 CTCTCCCAGGCTGATCGCCCTCATCAGCTGTTTGCAGATGCACCTCCTCCACCCTCTGCT       c.660
 L  S  Q  A  D  R  P  H  Q  L  F  A  D  A  P  P  P  P  S  A         p.220

          .         .         .         .       | 04 .         .    g.7224
 CCCAATCCTGTGGTATCATCATTGGGGTCTGGGCTTCCTCCACCAG | GCATGCCTCCTCCT    c.720
 P  N  P  V  V  S  S  L  G  S  G  L  P  P  P  G |   M  P  P  P      p.240

          .         .         .         .         .         .       g.7284
 GGCTCCTTCCCACCCCCAGTGCCACCTCCTGGAGCCCTCCCACCTGGGATACCCCCAGCC       c.780
 G  S  F  P  P  P  V  P  P  P  G  A  L  P  P  G  I  P  P  A         p.260

          .         .         .         .         .         .       g.7344
 ATGCCCCCACCACCTATGCCTCCTGGGGCTGCAGGACATGGCCCCCCATCGGCAGGAACC       c.840
 M  P  P  P  P  M  P  P  G  A  A  G  H  G  P  P  S  A  G  T         p.280

          .         .         .         .         .         .       g.7404
 CCAGGGGCAGGACATCCTGGTCATGGACACTCACATCCTCACCCATTCCCACCGGGTGGG       c.900
 P  G  A  G  H  P  G  H  G  H  S  H  P  H  P  F  P  P  G  G         p.300

          .    | 05    .         .         .         .         .    g.9285
 ATGCCCCATCCAG | GGATGTCTCAGATGCAGCTTGCACACCATGGCCCTCATGGCTTAGGA    c.960
 M  P  H  P  G |   M  S  Q  M  Q  L  A  H  H  G  P  H  G  L  G      p.320

          .         .         .         .         .         .       g.9345
 CATCCCCACGCTGGACCCCCAGGCTCTGGGGGCCAGCCACCGCCCCGACCACCACCTGGA       c.1020
 H  P  H  A  G  P  P  G  S  G  G  Q  P  P  P  R  P  P  P  G         p.340

          .         .         .         .         .         .       g.9405
 ATGCCTCATCCTGGACCTCCTCCAATGGGCATGCCCCCCCGAGGGCCTCCATTCGGATCT       c.1080
 M  P  H  P  G  P  P  P  M  G  M  P  P  R  G  P  P  F  G  S         p.360

         | 06.         .         .         .         .         .    g.9576
 CCCATGG | GTCACCCAGGTCCTATGCCTCCGCATGGTATGCGTGGACCTCCTCCACTGATG    c.1140
 P  M  G |   H  P  G  P  M  P  P  H  G  M  R  G  P  P  P  L  M      p.380

          .         .         .         .         .         .       g.9636
 CCCCCCCATGGATACACTGGCCCTCCACGACCCCCACCCTATGGCTACCAGCGGGGGCCT       c.1200
 P  P  H  G  Y  T  G  P  P  R  P  P  P  Y  G  Y  Q  R  G  P         p.400

          .         .         .         .         .         .       g.9696
 CTCCCTCCACCCAGACCCACTCCCCGGCCACCAGTTCCCCCTCGAGGCCCACTTCGAGGC       c.1260
 L  P  P  P  R  P  T  P  R  P  P  V  P  P  R  G  P  L  R  G         p.420

          .                                                         g.9711
 CCTCTCCCTCAGTAA                                                    c.1275
 P  L  P  Q  X                                                      p.424

          .         .         .         .         .         .       g.9771
 attcacattttccttcctcctgttacattttcccaatatcttttctattccttggaccaa       c.*60

          .         .         .         .         .         .       g.9831
 tcagagatgctgtagctccttggggcaaaggtactaatccctttcagcacccccactcca       c.*120

          .         .         .         .         .         .       g.9891
 ttcccctttttaatgtaactttttccacaggaggtatttcttttttatgttggtcctgag       c.*180

          .         .         .         .                           g.9936
 tattttgcaaatgcacagagaaaataaaactaaactccttgttta                      c.*225

 (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 Splicing factor 3b, subunit 4, 49kDa 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.