ephrin-B1 (EFNB1) - coding DNA reference sequence

(used for variant description)

(last modified September 19, 2013)

This file was created to facilitate the description of sequence variants on transcript NM_004429.4 in the EFNB1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000023.10, covering EFNB1 transcript NM_004429.4.

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

 (upstream sequence)
 .         .         .         .         .         .                g.5060
 gcacagcggcagcggagggagtctatgcgagctggacagcagtgggaggtttgtgaggct       c.-721

 .         .         .         .         .         .                g.5120
 cgcactggccgcagaccctcgggctcgatcgcccgggagccaggactcggcgacgcgagg       c.-661

 .         .         .         .         .         .                g.5180
 ctgccgggctacccggccgaggcttcgggggcgcaaactaatgggactggctcgctcggc       c.-601

 .         .         .         .         .         .                g.5240
 agcatctccccgctcttctaagtacactgagcagggcccgcgctgaagtagaagctgtcc       c.-541

 .         .         .         .         .         .                g.5300
 gggggcgcgtagcccggagtcccagtgtggcccggaggaacggagcccgtgccagggcgg       c.-481

 .         .         .         .         .         .                g.5360
 cccagtcgggagcccggggaccgagcttgtgctgtggggaaacccccacttcttccaagg       c.-421

 .         .         .         .         .         .                g.5420
 gacagcgatcccgggacggtcgaggcgtcggggcggtcaccgagacctctgcgggaagac       c.-361

 .         .         .         .         .         .                g.5480
 cccgtcggggagagggcgcgcagccccgaagcgtctcgggaagtcgagcggaatcgggcg       c.-301

 .         .         .         .         .         .                g.5540
 ggatcacccgggggcgcagagcccccgtcgcgcctcgtgcggcagcggagagcccaggag       c.-241

 .         .         .         .         .         .                g.5600
 aacgagccctcgggggccgaagcccatgcccgggttgggggcggctgcccagtgagtcct       c.-181

 .         .         .         .         .         .                g.5660
 cctggccggccgggcggagaagagcgacaccgaagccggcgggaggggagcacttcaagg       c.-121

 .         .         .         .         .         .                g.5720
 ccggcggctgcggaggatgggcgcctgagcggctccgagcgcagcgcggcagaggaaggc       c.-61

 .         .         .         .         .         .                g.5780
 gaggcgagctttggtgaggaggcgccaagggatcccgaagtgcagtctgcccccgggaag       c.-1

          .         .         .         .         .         .       g.5840
 ATGGCTCGGCCTGGGCAGCGTTGGCTCGGCAAGTGGCTTGTGGCGATGGTCGTGTGGGCG       c.60
 M  A  R  P  G  Q  R  W  L  G  K  W  L  V  A  M  V  V  W  A         p.20

          .         .         .         .         .         .       g.5900
 CTGTGCCGGCTCGCCACACCGCTGGCCAAGAACCTGGAGCCCGTATCCTGGAGCTCCCTC       c.120
 L  C  R  L  A  T  P  L  A  K  N  L  E  P  V  S  W  S  S  L         p.40

          | 02         .         .         .         .         .    g.14672
 AACCCCAA | GTTCCTGAGTGGGAAGGGCTTGGTGATCTATCCGAAAATTGGAGACAAGCTG    c.180
 N  P  K  |  F  L  S  G  K  G  L  V  I  Y  P  K  I  G  D  K  L      p.60

          .         .         .         .         .         .       g.14732
 GACATCATCTGCCCCCGAGCAGAAGCAGGGCGGCCCTATGAGTACTACAAGCTGTACCTG       c.240
 D  I  I  C  P  R  A  E  A  G  R  P  Y  E  Y  Y  K  L  Y  L         p.80

          .         .         .         .         .         .       g.14792
 GTGCGGCCTGAGCAGGCAGCTGCCTGTAGCACAGTTCTCGACCCCAACGTGTTGGTCACC       c.300
 V  R  P  E  Q  A  A  A  C  S  T  V  L  D  P  N  V  L  V  T         p.100

          .         .         .         .         .         .       g.14852
 TGCAATAGGCCAGAGCAGGAAATACGCTTTACCATCAAGTTCCAGGAGTTCAGCCCCAAC       c.360
 C  N  R  P  E  Q  E  I  R  F  T  I  K  F  Q  E  F  S  P  N         p.120

          .         .         .         .       | 03 .         .    g.15681
 TACATGGGCCTGGAGTTCAAGAAGCACCATGATTACTACATTACCT | CAACATCCAATGGA    c.420
 Y  M  G  L  E  F  K  K  H  H  D  Y  Y  I  T  S |   T  S  N  G      p.140

          .         .         .         .         .         .       g.15741
 AGCCTGGAGGGGCTGGAAAACCGGGAGGGCGGTGTGTGCCGCACACGCACCATGAAGATC       c.480
 S  L  E  G  L  E  N  R  E  G  G  V  C  R  T  R  T  M  K  I         p.160

          .          | 04        .         .         .         .    g.16004
 ATCATGAAGGTTGGGCAAG | ATCCCAATGCTGTGACGCCTGAGCAGCTGACTACCAGCAGG    c.540
 I  M  K  V  G  Q  D |   P  N  A  V  T  P  E  Q  L  T  T  S  R      p.180

          .         .         .         .         .         .       g.16064
 CCCAGCAAGGAGGCAGACAACACTGTCAAGATGGCCACACAGGCCCCTGGTAGTCGGGGC       c.600
 P  S  K  E  A  D  N  T  V  K  M  A  T  Q  A  P  G  S  R  G         p.200

          .         .         | 05         .         .         .    g.16277
 TCCCTGGGTGACTCTGATGGCAAGCATG | AGACTGTGAACCAGGAAGAGAAGAGTGGCCCA    c.660
 S  L  G  D  S  D  G  K  H  E |   T  V  N  Q  E  E  K  S  G  P      p.220

          .         .         .         .         .         .       g.16337
 GGTGCAAGTGGGGGCAGCAGCGGGGACCCTGATGGCTTCTTCAACTCCAAGGTGGCATTG       c.720
 G  A  S  G  G  S  S  G  D  P  D  G  F  F  N  S  K  V  A  L         p.240

          .         .         .         .         .         .       g.16397
 TTCGCGGCTGTCGGTGCCGGTTGCGTCATCTTCCTGCTCATCATCATCTTCCTGACGGTC       c.780
 F  A  A  V  G  A  G  C  V  I  F  L  L  I  I  I  F  L  T  V         p.260

          .         .         .         .         .         .       g.16457
 CTACTACTGAAGCTACGCAAGCGGCACCGCAAGCACACACAGCAGCGGGCGGCTGCCCTC       c.840
 L  L  L  K  L  R  K  R  H  R  K  H  T  Q  Q  R  A  A  A  L         p.280

          .         .         .         .         .         .       g.16517
 TCGCTCAGTACCCTGGCCAGTCCCAAGGGGGGCAGTGGCACAGCGGGCACCGAGCCCAGC       c.900
 S  L  S  T  L  A  S  P  K  G  G  S  G  T  A  G  T  E  P  S         p.300

          .         .         .         .         .         .       g.16577
 GACATCATCATTCCCTTACGGACTACAGAGAACAACTACTGCCCCCACTATGAGAAGGTG       c.960
 D  I  I  I  P  L  R  T  T  E  N  N  Y  C  P  H  Y  E  K  V         p.320

          .         .         .         .         .         .       g.16637
 AGTGGGGACTACGGGCACCCTGTCTACATCGTCCAAGAGATGCCGCCCCAGAGCCCGGCG       c.1020
 S  G  D  Y  G  H  P  V  Y  I  V  Q  E  M  P  P  Q  S  P  A         p.340

          .         .                                               g.16658
 AACATCTACTACAAGGTCTGA                                              c.1041
 N  I  Y  Y  K  V  X                                                p.346

          .         .         .         .         .         .       g.16718
 gtgcccggcacggcctcaggcccccgagggacagtcggcctggaccggacctctcctttc       c.*60

          .         .         .         .         .         .       g.16778
 gcccccacaccccctccccttgccagctgtgcccacctttgtatttagttttgtagtttc       c.*120

          .         .         .         .         .         .       g.16838
 ttggcttttataatccccctttttccctgccccctgggcttcggaggggggtgcttgtgc       c.*180

          .         .         .         .         .         .       g.16898
 ccctaacccccatgctcttgtgccttccccctctggccaggcctctgggctccgtggggg       c.*240

          .         .         .         .         .         .       g.16958
 cgccccttcttggaaggcagggctggacactgatggacagcaggcagggagacagtcccc       c.*300

          .         .         .         .         .         .       g.17018
 tggccctgcccctccctcgccccccttgccaccttcccaggactgcttgtccgctatcat       c.*360

          .         .         .         .         .         .       g.17078
 cactgtttttaatgcttttgtgttcattttttagctgtcaactcattttcatctgttttt       c.*420

          .         .         .         .         .         .       g.17138
 tgaagaaaaatggaaaaatgtaaaaggcagcccctccccaggctttgtgagcctggccca       c.*480

          .         .         .         .         .         .       g.17198
 agccagtacaagagggcctggggcacgatgtggtcagccaggaagcataggatgccattt       c.*540

          .         .         .         .         .         .       g.17258
 cttttatagattccttggtatttctggtggggtaaggggcaggccagggctgttcacgcc       c.*600

          .         .         .         .         .         .       g.17318
 catgagggaagaggaaagtgccactgggcaaggtgtcccaccctcccctcctgaccctcc       c.*660

          .         .         .         .         .         .       g.17378
 tacgaggcttatcctggcaatggggtagtcactgccacccttccacacacacacacacac       c.*720

          .         .         .         .         .         .       g.17438
 acacacacacaaaaaaaaatcccttccttgtgggattcttgggcatctcctgcctccctc       c.*780

          .         .         .         .         .         .       g.17498
 actctcacggtaattaatgtcttaattggctgttgcctggggaacaggagagctgctgca       c.*840

          .         .         .         .         .         .       g.17558
 ggcagatgacctcatggggggtggagggaggtgaggtgcccaggtggctatttgccctgc       c.*900

          .         .         .         .         .         .       g.17618
 agagctgggagtttcacccccaccccccaccctgttctctccttacctttggcatccttt       c.*960

          .         .         .         .         .         .       g.17678
 ggcctggtggggaaacagaggcccagggtggagacctaagcgggtataagaccaggtggc       c.*1020

          .         .         .         .         .         .       g.17738
 ctgctccttttctgggccctagcacaggtgggtaacccccacccaacccagctcctgctg       c.*1080

          .         .         .         .         .         .       g.17798
 ctgtcccagtcttgggctggggcctggaaagaggaagaggctgcctggggctgggccagc       c.*1140

          .         .         .         .         .         .       g.17858
 ccgctgtgcactttgaccccagttccttgccagcacggctgctaacagactgccacttga       c.*1200

          .         .         .         .         .         .       g.17918
 gtgcgccttgcaggcactcccagagcagccatggaaggagctggccctcacaccatccac       c.*1260

          .         .         .         .         .         .       g.17978
 ctccacactgcctcctggccagctgcccaccccagtgccaggtgggagagggagcagaac       c.*1320

          .         .         .         .         .         .       g.18038
 agccagccccttccaggtggcagtcggaagggtttttgtttttgtttctgttgccatttg       c.*1380

          .         .         .         .         .         .       g.18098
 tgtaaatactagtctttttggaaaaaaaataatgtaaagatgttttgtataaactctgaa       c.*1440

          .         .         .         .         .         .       g.18158
 ttattttcttgttgcttttttcttagaaaaaaatgagaactaaaaaaaaaaaattaacca       c.*1500

          .                                                         g.18168
 catggagaaa                                                         c.*1510

 (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 Ephrin-B1 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.