acyl-CoA synthetase long-chain family member 4 (ACSL4) - coding DNA reference sequence

(used for variant description)

(last modified December 29, 2016)


This file was created to facilitate the description of sequence variants on transcript NM_022977.2 in the ACSL4 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008053.1, covering ACSL4 transcript NM_022977.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                         .         .                g.5025
                                    gcgattcggctggctctgccacacc       c.-481

 .         .         .         .         .         .                g.5085
 accgcgcgcccccgctccgcccgcccctccgggcgcgtcttttccgggctcgcgctgagt       c.-421

 .         .         .         .         .         .                g.5145
 cccgcctccgccggctgtccgggtgcgcgcgcgccgctgcggctttttctctggcctccg       c.-361

 .         .         .         .         .         .                g.5205
 ccgcgcgctcctcctcgtcccagcgctagcgggcacgcggttcctttttgcgagctttcc       c.-301

 .         .         .         .         .         | 02             g.42207
 gagtgccaggcgccggccggctgcgaagacgcggtgggccgcccctccg | attgaaatcac    c.-241

 .         .         .         .         .  | 03      .             g.52966
 agaagatattcgtgttcttcttaagagaaaaagaggacattt | tagctttctcagttgaag    c.-181

  | 04        .         .         .         .         .             g.54786
  | gcgtactttattgtcggcttccaaagattactaacttttatctgtatcactaagattgaa    c.-121

 .         .         .         .         .         .                g.54846
 ctgccttggctgtactgctattcttactgctgcttctattattgccttcttcagcacaat       c.-61

 .         .         .         .         .         .                g.54906
 aaggctttcaaaagccaaagaataacaagaaataagcaccattttagaagcctttccact       c.-1

          .         .         .         .         .         .       g.54966
 ATGAAACTTAAGCTAAATGTGCTCACCATTATTTTGCTGCCTGTCCACTTGTTAATAACA       c.60
 M  K  L  K  L  N  V  L  T  I  I  L  L  P  V  H  L  L  I  T         p.20

          .         .         .         .         .         .       g.55026
 ATATACAGTGCCCTTATATTTATTCCATGGTATTTTCTTACCAATGCCAAGAAGAAAAAC       c.120
 I  Y  S  A  L  I  F  I  P  W  Y  F  L  T  N  A  K  K  K  N         p.40

          .         .         .         .         .         .       g.55086
 GCTATGGCAAAGAGAATAAAAGCTAAGCCCACTTCAGACAAACCTGGAAGTCCATATCGC       c.180
 A  M  A  K  R  I  K  A  K  P  T  S  D  K  P  G  S  P  Y  R         p.60

          .         .         .         .         .         .       g.55146
 TCTGTCACACACTTCGACTCACTAGCTGTAATAGACATCCCTGGAGCAGATACTCTGGAT       c.240
 S  V  T  H  F  D  S  L  A  V  I  D  I  P  G  A  D  T  L  D         p.80

          .         .         .         .         .         .       g.55206
 AAATTATTTGACCATGCTGTATCCAAGTTTGGGAAGAAGGACAGCCTTGGGACCAGGGAA       c.300
 K  L  F  D  H  A  V  S  K  F  G  K  K  D  S  L  G  T  R  E         p.100

          .         .         .         .         .  | 05      .    g.55505
 ATCCTAAGTGAAGAAAATGAAATGCAGCCAAATGGAAAAGTTTTTAAGAAG | TTAATTCTT    c.360
 I  L  S  E  E  N  E  M  Q  P  N  G  K  V  F  K  K   | L  I  L      p.120

          .         .         .         .         .         .       g.55565
 GGGAATTATAAATGGATGAACTATCTTGAAGTGAATCGCAGAGTGAATAACTTTGGTAGT       c.420
 G  N  Y  K  W  M  N  Y  L  E  V  N  R  R  V  N  N  F  G  S         p.140

          .         .         .         .         .         .       g.55625
 GGACTCACTGCACTGGGACTAAAACCAAAGAACACCATTGCCATCTTCTGTGAGACCAGG       c.480
 G  L  T  A  L  G  L  K  P  K  N  T  I  A  I  F  C  E  T  R         p.160

          .         .         .         .          | 06        .    g.57028
 GCCGAATGGATGATTGCAGCACAGACCTGCTTTAAGTACAACTTTCCTC | TTGTGACTTTA    c.540
 A  E  W  M  I  A  A  Q  T  C  F  K  Y  N  F  P  L |   V  T  L      p.180

          .         .         .         .         .         .       g.57088
 TATGCCACACTTGGCAAAGAAGCAGTAGTTCATGGGCTAAATGAATCTGAGGCTTCCTAT       c.600
 Y  A  T  L  G  K  E  A  V  V  H  G  L  N  E  S  E  A  S  Y         p.200

          .         .         .          | 07        .         .    g.57277
 CTGATTACCAGTGTTGAACTTCTGGAAAGTAAACTTAAG | ACTGCATTGTTAGATATCAGT    c.660
 L  I  T  S  V  E  L  L  E  S  K  L  K   | T  A  L  L  D  I  S      p.220

          .         .         .         .         .         .       g.57337
 TGTGTTAAACATATCATTTATGTGGACAATAAGGCTATCAATAAAGCAGAGTACCCTGAA       c.720
 C  V  K  H  I  I  Y  V  D  N  K  A  I  N  K  A  E  Y  P  E         p.240

          .         .         .         .         .         | 08    g.59979
 GGATTTGAGATTCACAGCATGCAATCAGTAGAAGAGTTGGGATCTAACCCAGAAAACT | TG    c.780
 G  F  E  I  H  S  M  Q  S  V  E  E  L  G  S  N  P  E  N  L |       p.260

          .         .         .         .         .         .       g.60039
 GGCATTCCTCCAAGTAGACCAACGCCTTCAGACATGGCCATTGTTATGTATACTAGTGGT       c.840
 G  I  P  P  S  R  P  T  P  S  D  M  A  I  V  M  Y  T  S  G         p.280

          .         .         .         .         .         .       g.60099
 TCTACTGGCCGACCTAAGGGAGTGATGATGCATCATAGCAATTTGATAGCTGGAATGACA       c.900
 S  T  G  R  P  K  G  V  M  M  H  H  S  N  L  I  A  G  M  T         p.300

          .         .          | 09        .         .         .    g.60312
 GGCCAGTGTGAAAGAATACCTGGACTGGG | ACCGAAGGACACATATATTGGCTACTTGCCT    c.960
 G  Q  C  E  R  I  P  G  L  G  |  P  K  D  T  Y  I  G  Y  L  P      p.320

          .         .         .         .         .         .       g.60372
 TTGGCTCATGTGCTAGAACTGACAGCAGAGATATCTTGCTTTACCTATGGCTGCAGGATT       c.1020
 L  A  H  V  L  E  L  T  A  E  I  S  C  F  T  Y  G  C  R  I         p.340

          .         .         .    | 10    .         .         .    g.63946
 GGATATTCTTCTCCGCTTACACTCTCTGACCAG | TCCAGCAAAATTAAAAAAGGAAGCAAA    c.1080
 G  Y  S  S  P  L  T  L  S  D  Q   | S  S  K  I  K  K  G  S  K      p.360

          .         .         .         .      | 11  .         .    g.69234
 GGAGACTGTACTGTACTGAAGCCCACACTTATGGCTGCTGTTCCG | GAAATCATGGATAGA    c.1140
 G  D  C  T  V  L  K  P  T  L  M  A  A  V  P   | E  I  M  D  R      p.380

          .         .         .         .         .         .       g.69294
 ATTTATAAGAATGTTATGAGCAAAGTCCAAGAGATGAATTATATTCAGAAAACTCTGTTC       c.1200
 I  Y  K  N  V  M  S  K  V  Q  E  M  N  Y  I  Q  K  T  L  F         p.400

          .         .         .         .         .         .       g.69354
 AAGATAGGGTATGATTACAAATTGGAACAGATCAAAAAGGGATATGATGCACCTCTTTGC       c.1260
 K  I  G  Y  D  Y  K  L  E  Q  I  K  K  G  Y  D  A  P  L  C         p.420

       | 12  .         .         .         .         .         .    g.70174
 AATCT | GTTACTGTTTAAAAAGGTCAAGGCCCTGCTGGGAGGGAATGTCCGCATGATGCTG    c.1320
 N  L  |  L  L  F  K  K  V  K  A  L  L  G  G  N  V  R  M  M  L      p.440

          .         .         .         .         .         .       g.70234
 TCTGGAGGGGCCCCGCTATCTCCTCAGACACACCGATTCATGAATGTCTGCTTCTGCTGC       c.1380
 S  G  G  A  P  L  S  P  Q  T  H  R  F  M  N  V  C  F  C  C         p.460

          .         .         .         .         .         | 13    g.72900
 CCAATTGGCCAGGGTTATGGACTGACAGAATCATGTGGTGCTGGGACAGTTACTGAAG | TA    c.1440
 P  I  G  Q  G  Y  G  L  T  E  S  C  G  A  G  T  V  T  E  V |       p.480

          .         .         .         .         .         .       g.72960
 ACTGACTATACTACTGGCAGAGTTGGAGCACCTCTTATTTGCTGTGAAATTAAGCTAAAA       c.1500
 T  D  Y  T  T  G  R  V  G  A  P  L  I  C  C  E  I  K  L  K         p.500

          .    | 14    .         .         .         .         .    g.75037
 GACTGGCAAGAAG | GCGGTTATACAATTAATGACAAGCCAAACCCCAGAGGTGAAATCGTA    c.1560
 D  W  Q  E  G |   G  Y  T  I  N  D  K  P  N  P  R  G  E  I  V      p.520

          .         .         .         .         .         .       g.75097
 ATTGGTGGACAGAACATCTCCATGGGATATTTTAAAAATGAAGAGAAAACAGCAGAAGAT       c.1620
 I  G  G  Q  N  I  S  M  G  Y  F  K  N  E  E  K  T  A  E  D         p.540

          .         .         .         .         .         .       g.75157
 TATTCTGTGGATGAAAATGGACAAAGGTGGTTTTGCACTGGTGATATTGGAGAATTCCAT       c.1680
 Y  S  V  D  E  N  G  Q  R  W  F  C  T  G  D  I  G  E  F  H         p.560

          .         .      | 15  .         .         .         .    g.76782
 CCCGATGGATGTTTACAGATTATAG | ATCGTAAGAAAGATCTAGTGAAGTTACAAGCAGGA    c.1740
 P  D  G  C  L  Q  I  I  D |   R  K  K  D  L  V  K  L  Q  A  G      p.580

          .         .         .         .         .         .       g.76842
 GAGTATGTATCTCTTGGGAAAGTAGAAGCTGCACTGAAGAATTGTCCACTTATTGACAAC       c.1800
 E  Y  V  S  L  G  K  V  E  A  A  L  K  N  C  P  L  I  D  N         p.600

          .         . | 16       .         .         .         .    g.78921
 ATCTGTGCTTTTGCCAAAAG | TGATCAGTCCTATGTGATCAGTTTTGTGGTTCCTAACCAG    c.1860
 I  C  A  F  A  K  S  |  D  Q  S  Y  V  I  S  F  V  V  P  N  Q      p.620

          .         .         .         .         .         .       g.78981
 AAAAGGTTGACACTTTTGGCACAACAGAAAGGGGTAGAAGGAACTTGGGTTGATATCTGC       c.1920
 K  R  L  T  L  L  A  Q  Q  K  G  V  E  G  T  W  V  D  I  C         p.640

          .         .         .         .         .         | 17    g.94208
 AATAATCCTGCTATGGAAGCTGAAATACTGAAAGAAATTCGAGAAGCTGCAAATGCCA | TG    c.1980
 N  N  P  A  M  E  A  E  I  L  K  E  I  R  E  A  A  N  A  M |       p.660

          .         .         .         .         .         .       g.94268
 AAATTGGAGCGATTTGAAATTCCAATCAAGGTTCGATTAAGCCCAGAGCCATGGACCCCT       c.2040
 K  L  E  R  F  E  I  P  I  K  V  R  L  S  P  E  P  W  T  P         p.680

          .         .         .         .         .         .       g.94328
 GAAACTGGTTTGGTAACTGATGCTTTCAAACTGAAAAGGAAGGAGCTGAGGAACCATTAC       c.2100
 E  T  G  L  V  T  D  A  F  K  L  K  R  K  E  L  R  N  H  Y         p.700

          .         .         .                                     g.94364
 CTCAAAGACATTGAACGAATGTATGGGGGCAAATAA                               c.2136
 L  K  D  I  E  R  M  Y  G  G  K  X                                 p.711

          .         .         .         .         .         .       g.94424
 aatgttgttgtcttattgacagttgtgcaggaggtagcctggtggttttcaacctctaga       c.*60

          .         .         .         .         .         .       g.94484
 attttaagcctttgttgaactgttagaatgtaaggtatatcattctaaagatagagtaaa       c.*120

          .         .         .         .         .         .       g.94544
 aagaaaacaaaaccaaaagttattaaaattgttgtccggtttactttaacttagttttgc       c.*180

          .         .         .         .         .         .       g.94604
 atagttctagtgcagctgaaattgaaaagttatttccctttagctgtgttattatagagc       c.*240

          .         .         .         .         .         .       g.94664
 agaaattctgtttttaaaaattagcctaagatatacttgtttttgtaaagaaaaatattt       c.*300

          .         .         .         .         .         .       g.94724
 aatgttgaacaaaataaattggagttggagtagaatgtagtttgaggaaatttgcagctt       c.*360

          .         .         .         .         .         .       g.94784
 ccaatgcctcttgtcttcctatttcagaagtttaaatattaagcatgacagaaaatatgt       c.*420

          .         .         .         .         .         .       g.94844
 attaacactactcaaagcaaaagtgctgcagggctttaaaattctcttccaaccatttat       c.*480

          .         .         .         .         .         .       g.94904
 cttgaaggaaaaattcaatagtaatataatacacaaaatcaaataataccttagaaggta       c.*540

          .         .         .         .         .         .       g.94964
 ttaagattataattgttgcataggttagatatagagtcattgtaatgttgtgaataatta       c.*600

          .         .         .         .         .         .       g.95024
 cagtgcctaaaataagaatagaacaacatatacaacaccaaaaaatatctagtaatatat       c.*660

          .         .         .         .         .         .       g.95084
 ttaaagggaaattgagctgctttttttgaaactttgagatctaaaaataactgtaattat       c.*720

          .         .         .         .         .         .       g.95144
 ttgaatgactaagaggaaagtacattttttgaaatgctgaaaattgcctttctgtgttta       c.*780

          .         .         .         .         .         .       g.95204
 ttcaaactgaaaagctgagaccaagagcaaggaaggtaaaaagttaacaggcaaacattt       c.*840

          .         .         .         .         .         .       g.95264
 tctcttagaaaaggtgataaaatcataagtatttggaattagaacccttgcacagcactg       c.*900

          .         .         .         .         .         .       g.95324
 aacctgggaaagagatttaaactctgaatttatctttgataacagggattgattttaaaa       c.*960

          .         .         .         .         .         .       g.95384
 tgtacatgtattaaattacatttgtaatttaaggtctgtttgctgttgctgattttattc       c.*1020

          .         .         .         .         .         .       g.95444
 ttgatcagtagtttgcatttcagaaagcctttcattttgctttaattttagcaaagcggg       c.*1080

          .         .         .         .         .         .       g.95504
 ttataatgaatgacttccccaatatcttgcttgaacttacaggtgattaacttggatgag       c.*1140

          .         .         .         .         .         .       g.95564
 ttttgggaagttaaagggaagaaaacactgttatcattttttcctgtttgggaagagctt       c.*1200

          .         .         .         .         .         .       g.95624
 agaaactggaaatactagatttgggagaagggcagagttacttgataagggactgatgtt       c.*1260

          .         .         .         .         .         .       g.95684
 tgtgcagtaacttgggagtgtggtttctttttgaatctttaattaaaacctgggattata       c.*1320

          .         .         .         .         .         .       g.95744
 tatccctgataaatattcacacttgaaccatagttactgtaaaatgcaaaaaatcttaat       c.*1380

          .         .         .         .         .         .       g.95804
 actgttattctttgcactttttcttaatcattttttatatatatgcatatatatatgtgt       c.*1440

          .         .         .         .         .         .       g.95864
 gtgtgtgtgttgcttatgttgttttgtacagatgtgggccaccattgcaacaaaatacat       c.*1500

          .         .         .         .         .         .       g.95924
 tctttttgctctaaaatatttatgaagaaaatacttaaatgttatgtatatggtggtaat       c.*1560

          .         .         .         .         .         .       g.95984
 aagggaaaaatcaagtattataaacaagaatgaaggtttttgtaaagatttctgttcagc       c.*1620

          .         .         .         .         .         .       g.96044
 gttttgcaaggtaaaattttaggcaagttttccctgaagttatgtgtatgtgagtattct       c.*1680

          .         .         .         .         .         .       g.96104
 cattcttcccaacttgcctttgaagagtgaaataccattattatcaagtagactactgtt       c.*1740

          .         .         .         .         .         .       g.96164
 cagcttttattcctgccctgctgtttatcccttaagaatgagtttcttagacttttccaa       c.*1800

          .         .         .         .         .         .       g.96224
 tatgtgattttttttcccatttagaatggtgattttaaatgtgtgagtgcatgtactatc       c.*1860

          .         .         .         .         .         .       g.96284
 ttatctcagatatttgcacccccaatctgcccccaactcccaaaagctagaacactgcca       c.*1920

          .         .         .         .         .         .       g.96344
 actgatctgttataggtcctttagaaacacataattaacacttaaggttgggtgctgcta       c.*1980

          .         .         .         .         .         .       g.96404
 attctttgcaaaaatccaaatattgttaagggaccagggagatgccactaccccttgatt       c.*2040

          .         .         .         .         .         .       g.96464
 ttccatctaaaaatatacatgtttatgtaaacaaatctttccatatccatagtgactttt       c.*2100

          .         .         .         .         .         .       g.96524
 caagtatttaagcctaaagattttgatctcacatttttatacctgtttaaattgctcaca       c.*2160

          .         .         .         .         .         .       g.96584
 gttattacatacacatcagccatcaactaaagttgtactttaaaaatttactacaatatg       c.*2220

          .         .         .         .         .         .       g.96644
 tacatttctaagtcaaacacttgtgacttttgctttaattccatgaatgttcctgcctcc       c.*2280

          .         .         .         .         .         .       g.96704
 ttgatatttgtatttattctttttttctctagagtagaggtataattgtgtgatatttca       c.*2340

          .         .         .         .         .         .       g.96764
 gaaatacagataaatgattcaaaaagtcacagttaaggagaatcatgtttctttgatcat       c.*2400

          .         .         .         .         .         .       g.96824
 gaataactgattagtaagtcttgcctatattttcctgatagcatatgacaaatgtttcta       c.*2460

          .         .         .         .         .         .       g.96884
 aggtaacaagatgagaacagataaagattgtgtggtgttttggatttggagagaaatatt       c.*2520

          .         .         .         .         .         .       g.96944
 ttaatttttaaatgcagttacaaattataatgtattcatatttgtactttctgttaaaat       c.*2580

          .         .         .         .         .         .       g.97004
 gcatgattgcagaattgtttagattttgtgtttattcttgatgaaaagctttgtttgttc       c.*2640

          .         .         .         .         .                 g.97058
 ttgtttttaagtttgcactcaaatcttaagaaataaatccacccatgttatcaa             c.*2694

 (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 10th nucleotide is indicated by a "." above the sequence. The Acyl-CoA synthetase long-chain family member 4 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th 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.

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