jumonji domain containing 1C (JMJD1C) - coding DNA reference sequence

(used for variant description)

(last modified July 27, 2020)


This file was created to facilitate the description of sequence variants on transcript NM_032776.1 in the JMJD1C gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_053187.1, covering JMJD1C transcript NM_032776.1.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
 .         .         .         .         .         .                g.5060
 gcggtggcggcggctgggctgcctcggggtcttcgacggccgcgttgggttttgtttcag       c.-241

 .         .         .         .         .         .                g.5120
 ttttcttgtgtggcgctgcagcacaaggctgcgaatctgggagtccaaaggagtgtttgc       c.-181

 .         .         .         .         .         .                g.5180
 ggggagggcccgaggtcgctgtgtccggggcagagcggccggttcgtcccgagtctgcgc       c.-121

 .         .         .         .         .         .                g.5240
 tctttcgggtccgctgctgtgtcccggtccgctctcctcagcatgagcggccggtaggag       c.-61

 .         .         .         .         .         .                g.5300
 tgaggtttcatcggttccctcgcactggaggaggcagcggccgcttcggcagcgacagct       c.-1

          .         .         .         .         .         .       g.5360
 ATGGCGGTAGAGACGCGGGCAGAGCTGGTGGGTAAGCGGTTCCTGTGTGTGGCGGTCGGC       c.60
 M  A  V  E  T  R  A  E  L  V  G  K  R  F  L  C  V  A  V  G         p.20

          .         .         .         .         .         .       g.5420
 GACGAGGCACGTTCGGAGCGCTGGGAGAGCGGACGCGGCTGGCGAAGCTGGCGAGCGGGG       c.120
 D  E  A  R  S  E  R  W  E  S  G  R  G  W  R  S  W  R  A  G         p.40

          .         .         .         .         | 02         .    g.90492
 GTCATCCGAGCCGTGTCACACAGGGACAGCCGCAATCCGGACCTGGCG | GTGTATGTGGAA    c.180
 V  I  R  A  V  S  H  R  D  S  R  N  P  D  L  A   | V  Y  V  E      p.60

          .         .         .         .         .         .       g.90552
 TTTGATGATCTTGAATGGGATAAACGAGAGTGGGTTAAAGTTTATGAAGATTTTTCAACT       c.240
 F  D  D  L  E  W  D  K  R  E  W  V  K  V  Y  E  D  F  S  T         p.80

          .         .         .         .         .         .       g.90612
 TTCTTGGTGGAATACCACTTAATCTGGGCCAAAAGGAATGACCCTAGCCAGACTCAGGGA       c.300
 F  L  V  E  Y  H  L  I  W  A  K  R  N  D  P  S  Q  T  Q  G         p.100

          .         .         .    | 03    .         .         .    g.206225
 TCAAAGAGCAAACAGATTCAGTGGCCTGCATTG | ACTTTCAAACCTCTGGTTGAAAGAAAT    c.360
 S  K  S  K  Q  I  Q  W  P  A  L   | T  F  K  P  L  V  E  R  N      p.120

          .         .         .         .         .         .       g.206285
 ATACCCAGTTCAGTCACTGCAGTAGAATTCCTTGTAGATAAGCAACTGGATTTTTTAACT       c.420
 I  P  S  S  V  T  A  V  E  F  L  V  D  K  Q  L  D  F  L  T         p.140

          .         .        | 04.         .         .         .    g.251012
 GAAGATAGTGCCTTTCAGCCCTACCAG | GACGACATAGACAGCCTAAACCCAGTTCTCAGG    c.480
 E  D  S  A  F  Q  P  Y  Q   | D  D  I  D  S  L  N  P  V  L  R      p.160

          .         .         .         .         .         .       g.251072
 GACAACCCGCAGCTTCATGAGGAAGTGAAAGTCTGGGTAAAGGAACAAAAGGTTCAGGAG       c.540
 D  N  P  Q  L  H  E  E  V  K  V  W  V  K  E  Q  K  V  Q  E         p.180

          .    | 05    .         .         .         .         .    g.253678
 ATTTTTATGCAAG | GTCCTTATTCCTTAAATGGATACAGAGTGAGAGTATATAGACAAGAC    c.600
 I  F  M  Q  G |   P  Y  S  L  N  G  Y  R  V  R  V  Y  R  Q  D      p.200

          .         .         .         .         .         .       g.253738
 TCTGCCACCCAGTGGTTTACTGGCATAATTACTCATCATGATCTCTTCACCCGCACCATG       c.660
 S  A  T  Q  W  F  T  G  I  I  T  H  H  D  L  F  T  R  T  M         p.220

          .         | 06         .         .         .         .    g.255308
 ATCGTTATGAATGATCAG | GTACTAGAACCACAGAATGTCGATCCTTCTATGGTTCAAATG    c.720
 I  V  M  N  D  Q   | V  L  E  P  Q  N  V  D  P  S  M  V  Q  M      p.240

          .         .         .         .         .         .       g.255368
 ACCTTTCTAGATGATGTTGTTCACTCTTTGTTAAAAGGTGAAAATATTGGCATTACATCA       c.780
 T  F  L  D  D  V  V  H  S  L  L  K  G  E  N  I  G  I  T  S         p.260

          .         .         .         .   | 07     .         .    g.255525
 CGACGCAGGTCTCGTGCCAATCAAAACGTCAACGCTGTTCAC | AGCCATTATACACGTGCC    c.840
 R  R  R  S  R  A  N  Q  N  V  N  A  V  H   | S  H  Y  T  R  A      p.280

          .         .         .         .         .         .       g.255585
 CAAGCAAATAGTCCCAGACCAGCAATGAACTCCCAAGCTGCTGTACCAAAACAGAATACA       c.900
 Q  A  N  S  P  R  P  A  M  N  S  Q  A  A  V  P  K  Q  N  T         p.300

          .         .         .         .         .         .       g.255645
 CACCAGCAACAGCAACAAAGAAGTATCCGTCCAAATAAGAGGAAGGGCTCAGATAGCAGT       c.960
 H  Q  Q  Q  Q  Q  R  S  I  R  P  N  K  R  K  G  S  D  S  S         p.320

          .         .         .         .         .      | 08  .    g.255816
 ATACCAGATGAAGAGAAGATGAAGGAGGAAAAATATGATTATATATCACGAGGAG | AAAAT    c.1020
 I  P  D  E  E  K  M  K  E  E  K  Y  D  Y  I  S  R  G  E |   N      p.340

          .         .         .         .         .         .       g.255876
 CCTAAAGGTAAAAACAAACACTTGATGAATAAAAGAAGGAAACCTGAGGAGGATGAAAAG       c.1080
 P  K  G  K  N  K  H  L  M  N  K  R  R  K  P  E  E  D  E  K         p.360

          .         .         .         .         .         .       g.255936
 AAACTAAATATGAAAAGACTTCGAACTGACAATGTTTCAGACTTTTCTGAGAGCAGTGAC       c.1140
 K  L  N  M  K  R  L  R  T  D  N  V  S  D  F  S  E  S  S  D         p.380

          .         .         .         .         .         .       g.255996
 TCAGAAAATTCAAATAAGAGAATAATAGATAATTCCTCAGAACAGAAGCCAGAGAATGAA       c.1200
 S  E  N  S  N  K  R  I  I  D  N  S  S  E  Q  K  P  E  N  E         p.400

          .         .         .         .         .         .       g.256056
 TTGAAAAATAAAAATACTTCAAAAATAAATGGAGAAGAAGGAAAACCCCATAATAATGAG       c.1260
 L  K  N  K  N  T  S  K  I  N  G  E  E  G  K  P  H  N  N  E         p.420

          .         .         .         .         .         .       g.256116
 AAGGCAGGAGAAGAGACCCTAAAAAATAGCCAGCCTCCCTGGGATCAAATACAGGAAGAT       c.1320
 K  A  G  E  E  T  L  K  N  S  Q  P  P  W  D  Q  I  Q  E  D         p.440

          .         .         .         .         .         .       g.256176
 AAAAAACATGAAGAAGCAGAGAAGCGGAAGTCTGTTGACACTCAGCTTCAAGAAGATATG       c.1380
 K  K  H  E  E  A  E  K  R  K  S  V  D  T  Q  L  Q  E  D  M         p.460

          .         .         .         .         .         .       g.256236
 ATTATTCATTCGTCAGAACAGTCCACAGTTTCTGATCATAATTCTAATGATTTACTTCCT       c.1440
 I  I  H  S  S  E  Q  S  T  V  S  D  H  N  S  N  D  L  L  P         p.480

          .         .         .         .         .         .       g.256296
 CAGGAATGCAATATGGATAAAACACATACCATGGAATTGCTACCAAAGGAGAAGTTTGTA       c.1500
 Q  E  C  N  M  D  K  T  H  T  M  E  L  L  P  K  E  K  F  V         p.500

          .         .         .         .         .         .       g.256356
 TCCAGACCACCCACACCAAAATGTGTTATTGATATTACAAATGACACTAATTTAGAAAAG       c.1560
 S  R  P  P  T  P  K  C  V  I  D  I  T  N  D  T  N  L  E  K         p.520

          .         .         .         .         .         .       g.256416
 GTGGCTCAGGAAAACTCAAGTACCTTTGGCCTTCAGACACTTCAGAAAATGGATCCTAAT       c.1620
 V  A  Q  E  N  S  S  T  F  G  L  Q  T  L  Q  K  M  D  P  N         p.540

          .         .         .         .         .         .       g.256476
 GTTAGTGATTCAAAACACTCTATTGCAAATGCAAAATTCTTGGAAACAGCAAAAAAAGAT       c.1680
 V  S  D  S  K  H  S  I  A  N  A  K  F  L  E  T  A  K  K  D         p.560

          .         .         .         .         .         .       g.256536
 TCTGACCAGAGCTGGGTCAGTGATGTAGTTAAAGTGGATCTAACCCAATCAAGTGTTACA       c.1740
 S  D  Q  S  W  V  S  D  V  V  K  V  D  L  T  Q  S  S  V  T         p.580

          .         .         .         .         .         .       g.256596
 AATGCTTCTTCAGGAAATGATCACTTGAACATGGAAAAAGAGAAGTATGTCTCTTACATT       c.1800
 N  A  S  S  G  N  D  H  L  N  M  E  K  E  K  Y  V  S  Y  I         p.600

          .         .         .         .         .         .       g.256656
 TCTCCTTTAAGTGCAGTTTCTGTCATGGAAGATAAGCTGCATAAGCGAAGTCCACCTCCA       c.1860
 S  P  L  S  A  V  S  V  M  E  D  K  L  H  K  R  S  P  P  P         p.620

          .         .         .         .         .         .       g.256716
 GAGACTATAAAATCTAAACTTAATACTTCAGTAGATACTCACAAGATAAAATCCAGCCCA       c.1920
 E  T  I  K  S  K  L  N  T  S  V  D  T  H  K  I  K  S  S  P         p.640

          .         .         .         .         .         .       g.256776
 TCACCTGAAGTTGTTAAACCCAAAATAACTCATTCTCCTGATTCTGTAAAGTCTAAGGCC       c.1980
 S  P  E  V  V  K  P  K  I  T  H  S  P  D  S  V  K  S  K  A         p.660

          .         .         .         .         .         .       g.256836
 ACTTATGTGAACAGCCAAGCTACTGGTGAAAGAAGATTGGCAAATAAGATAGAACATGAG       c.2040
 T  Y  V  N  S  Q  A  T  G  E  R  R  L  A  N  K  I  E  H  E         p.680

          .         .         .         .         .         .       g.256896
 CTATCAAGATGCAGTTTTCATCCAATTCCTACTCGAAGCAGTACATTAGAAACTACAAAG       c.2100
 L  S  R  C  S  F  H  P  I  P  T  R  S  S  T  L  E  T  T  K         p.700

          .         .         .         .         .         .       g.256956
 AGTCCTCTTATCATTGATAAAAATGAGCATTTTACAGTTTACAGAGATCCTGCACTTATT       c.2160
 S  P  L  I  I  D  K  N  E  H  F  T  V  Y  R  D  P  A  L  I         p.720

          .         .         .         .         .         .       g.257016
 GGGTCAGAAACAGGAGCTAATCATATTTCACCTTTCCTAAGCCAGCATCCTTTTCCTCTT       c.2220
 G  S  E  T  G  A  N  H  I  S  P  F  L  S  Q  H  P  F  P  L         p.740

          .         .         .         .         .         .       g.257076
 CACTCCTCATCTCATAGAACCTGTTTAAATCCAGGTACCCATCATCCTGCCTTAACTCCT       c.2280
 H  S  S  S  H  R  T  C  L  N  P  G  T  H  H  P  A  L  T  P         p.760

          .         .         .         .         .         .       g.257136
 GCACCCCATTTACTAGCCGGATCATCTAGTCAAACTCCATTACCTACCATTAACACTCAT       c.2340
 A  P  H  L  L  A  G  S  S  S  Q  T  P  L  P  T  I  N  T  H         p.780

          .         .         .         .         .         .       g.257196
 CCTCTGACTAGTGGTCCACACCATGCTGTTCATCACCCTCATTTACTTCCCACTGTGTTA       c.2400
 P  L  T  S  G  P  H  H  A  V  H  H  P  H  L  L  P  T  V  L         p.800

          .         .         .         .         .         .       g.257256
 CCTGGAGTGCCTACTGCCTCCTTACTTGGTGGCCACCCACGACTAGAGAGTGCTCATGCC       c.2460
 P  G  V  P  T  A  S  L  L  G  G  H  P  R  L  E  S  A  H  A         p.820

          .         .         .         .         .         .       g.257316
 AGCAGCTTGAGCCACTTAGCGCTAGCACACCAGCAACAACAACAGTTGTTACAGCACCAG       c.2520
 S  S  L  S  H  L  A  L  A  H  Q  Q  Q  Q  Q  L  L  Q  H  Q         p.840

          .         .         .         .         .         .       g.257376
 TCACCTCATCTTCTTGGACAAGCCCATCCTTCTGCTTCATATAATCAGCTTGGACTTTAT       c.2580
 S  P  H  L  L  G  Q  A  H  P  S  A  S  Y  N  Q  L  G  L  Y         p.860

          .         .         .         .         .         .       g.257436
 CCAATTATTTGGCAGTATCCAAATGGAACACATGCATACTCAGGACTTGGTTTGCCTTCT       c.2640
 P  I  I  W  Q  Y  P  N  G  T  H  A  Y  S  G  L  G  L  P  S         p.880

          .         .         .         .         .     | 09   .    g.261733
 TCTAAGTGGGTTCACCCAGAAAATGCAGTTAATGCTGAAGCTTCATTAAGGAGG | AATTCT    c.2700
 S  K  W  V  H  P  E  N  A  V  N  A  E  A  S  L  R  R   | N  S      p.900

          .         .         .         .         .         .       g.261793
 CCCAGTCCTTGGCTACATCAGCCCACCCCTGTGACCTCAGCAGATGGTATTGGATTACTT       c.2760
 P  S  P  W  L  H  Q  P  T  P  V  T  S  A  D  G  I  G  L  L         p.920

          .         .         .         .         .         .       g.261853
 AGTCACATTCCTGTCAGACCTTCCAGTGCAGAGCCTCATCGGCCTCTTAAAATTACAGCC       c.2820
 S  H  I  P  V  R  P  S  S  A  E  P  H  R  P  L  K  I  T  A         p.940

          .         .         .         .        | 10.         .    g.262174
 CATTCCAGTCCACCATTGACAAAAACTTTAGTAGATCATCATAAGGA | AGAATTAGAAAGA    c.2880
 H  S  S  P  P  L  T  K  T  L  V  D  H  H  K  E  |  E  L  E  R      p.960

          .         .         .         .         .         .       g.262234
 AAAGCTTTTATGGAACCATTACGGTCTGTTGCATCCACATCAGCCAAAAATGACCTGGAT       c.2940
 K  A  F  M  E  P  L  R  S  V  A  S  T  S  A  K  N  D  L  D         p.980

          .         .         .         .         .         .       g.262294
 CTAAATAGGTCACAGACTGGAAAAGATTGTCACTTACATAGGCATTTTGTGGATCCAGTA       c.3000
 L  N  R  S  Q  T  G  K  D  C  H  L  H  R  H  F  V  D  P  V         p.1000

          .         .         .         .         .         .       g.262354
 TTAAATCAGTTACAGAGGCCACCCCAGGAGACTGGAGAGAGGTTAAACAAATACAAAGAG       c.3060
 L  N  Q  L  Q  R  P  P  Q  E  T  G  E  R  L  N  K  Y  K  E         p.1020

          .         .         .         .         .         .       g.262414
 GAACACCGTCGAATTCTTCAAGAAAGTATTGATGTTGCTCCCTTTACAACTAAAATCAAG       c.3120
 E  H  R  R  I  L  Q  E  S  I  D  V  A  P  F  T  T  K  I  K         p.1040

          .         .         .         .         .         .       g.262474
 GGACTTGAGGGTGAGAGAGAGAATTATTCCAGAGTGGCATCATCATCTTCCAGTCCTAAA       c.3180
 G  L  E  G  E  R  E  N  Y  S  R  V  A  S  S  S  S  S  P  K         p.1060

          .         .         .         .         .         .       g.262534
 AGCCATATCATCAAACAAGATATGGATGTAGAACGCTCAGTATCAGATCTTTATAAAATG       c.3240
 S  H  I  I  K  Q  D  M  D  V  E  R  S  V  S  D  L  Y  K  M         p.1080

          .         .         .         .         .         .       g.262594
 AAGCACTCAGTGCCTCAGAGTTTACCCCAAAGTAACTATTTCACTACATTGTCTAATAGT       c.3300
 K  H  S  V  P  Q  S  L  P  Q  S  N  Y  F  T  T  L  S  N  S         p.1100

          .         .         .         .         .         .       g.262654
 GTGGTCAATGAACCACCAAGATCATACCCATCCAAAGAAGTTTCAAATATTTACGGTGAT       c.3360
 V  V  N  E  P  P  R  S  Y  P  S  K  E  V  S  N  I  Y  G  D         p.1120

          .         .         .         .         .         .       g.262714
 AAACAGAGTAATGCCCTTGCAGCGGCAGCAGCTAATCCTCAAACTCTGACTTCATTTATA       c.3420
 K  Q  S  N  A  L  A  A  A  A  A  N  P  Q  T  L  T  S  F  I         p.1140

          .         .         .         .         .         .       g.262774
 ACATCTCTTTCAAAGCCTCCACCTTTGATTAAACACCAACCAGAAAGTGAAGGTTTAGTA       c.3480
 T  S  L  S  K  P  P  P  L  I  K  H  Q  P  E  S  E  G  L  V         p.1160

          .         .         .         .         .         .       g.262834
 GGCAAGATACCAGAACATCTTCCACATCAGATTGCATCTCACTCAGTAACAACCTTCAGA       c.3540
 G  K  I  P  E  H  L  P  H  Q  I  A  S  H  S  V  T  T  F  R         p.1180

          .         .         .         .         .         .       g.262894
 AATGATTGTAGGAGTCCTACCCATTTGACAGTTTCTTCTACAAATACACTCCGCAGTATG       c.3600
 N  D  C  R  S  P  T  H  L  T  V  S  S  T  N  T  L  R  S  M         p.1200

          .         .         .         .         .         .       g.262954
 CCTGCATTACATAGAGCACCAGTATTTCACCCACCAATCCATCACAGCCTGGAAAGAAAG       c.3660
 P  A  L  H  R  A  P  V  F  H  P  P  I  H  H  S  L  E  R  K         p.1220

          .         .         .         .         .         .       g.263014
 GAAGGCAGCTATAGTAGTCTTTCCCCTCCAACTTTAACTCCGGTGATGCCAGTAAATGCT       c.3720
 E  G  S  Y  S  S  L  S  P  P  T  L  T  P  V  M  P  V  N  A         p.1240

          .         .         .         .         .         .       g.263074
 GGTGGTAAAGTTCAAGAATCACAGAAGCCTCCAACTCTAATACCCGAACCAAAAGACTCC       c.3780
 G  G  K  V  Q  E  S  Q  K  P  P  T  L  I  P  E  P  K  D  S         p.1260

          .         .         .         .         .         .       g.263134
 CAGGCAAATTTTAAGAGTTCTTCAGAACAGAGTTTGACGGAGATGTGGAGACCTAATAAT       c.3840
 Q  A  N  F  K  S  S  S  E  Q  S  L  T  E  M  W  R  P  N  N         p.1280

          .         .         .         .         .         .       g.263194
 AACCTCAGCAAAGAGAAAACTGAATGGCATGTGGAGAAAAGCAGCGGAAAGTTACAGGCT       c.3900
 N  L  S  K  E  K  T  E  W  H  V  E  K  S  S  G  K  L  Q  A         p.1300

          .         .         .         .         .         .       g.263254
 GCTATGGCATCTGTCATTGTGCGTCCATCTTCTAGTACAAAAACTGATAGTATGCCAGCA       c.3960
 A  M  A  S  V  I  V  R  P  S  S  S  T  K  T  D  S  M  P  A         p.1320

          .         .         .         .         .         .       g.263314
 ATGCAGTTAGCTTCTAAAGATCGTGTTAGTGAAAGATCTTCAGCTGGGGCACATAAAACA       c.4020
 M  Q  L  A  S  K  D  R  V  S  E  R  S  S  A  G  A  H  K  T         p.1340

          .         .         .         .         .         .       g.263374
 GATTGCCTCAAACTAGCAGAAGCCGGAGAAACTGGAAGAATCATTTTGCCAAATGTGAAT       c.4080
 D  C  L  K  L  A  E  A  G  E  T  G  R  I  I  L  P  N  V  N         p.1360

          .         .         .         .         .         .       g.263434
 TCAGACAGTGTTCACACAAAATCTGAAAAAAACTTTCAGGCTGTCTCACAGGGCAGTGTT       c.4140
 S  D  S  V  H  T  K  S  E  K  N  F  Q  A  V  S  Q  G  S  V         p.1380

          .         .         .         .         .         .       g.263494
 CCCAGTTCAGTCATGTCTGCTGTAAATACGATGTGTAATACCAAAACGGATGTAATCACA       c.4200
 P  S  S  V  M  S  A  V  N  T  M  C  N  T  K  T  D  V  I  T         p.1400

          .         .         .         .         .         .       g.263554
 TCTGCTGCCGATACTACCAGTGTTTCCAGCTGGGGTGGTTCAGAAGTAATTTCCTCTTTA       c.4260
 S  A  A  D  T  T  S  V  S  S  W  G  G  S  E  V  I  S  S  L         p.1420

          .         .         .         .         .         .       g.263614
 TCAAATACCATTTTGGCCTCTACATCATCAGAATGTGTATCTTCAAAAAGTGTCAGTCAG       c.4320
 S  N  T  I  L  A  S  T  S  S  E  C  V  S  S  K  S  V  S  Q         p.1440

          .         .         .         .         .         .       g.263674
 CCAGTGGCTCAAAAACAAGAATGCAAGGTCAGCACCACAGCACCAGTTACATTAGCCAGT       c.4380
 P  V  A  Q  K  Q  E  C  K  V  S  T  T  A  P  V  T  L  A  S         p.1460

          .         .         .         .         .         .       g.263734
 AGTAAGACAGGAAGTGTTGTTCAACCCAGTTCTGGGTTCTCAGGCACAACTGATTTTATC       c.4440
 S  K  T  G  S  V  V  Q  P  S  S  G  F  S  G  T  T  D  F  I         p.1480

          .         .         .         .         .         .       g.263794
 CATTTAAAAAAGCACAAGGCAGCATTGGCTGCAGCTCAGTATAAAAGTAGTAATGCCAGT       c.4500
 H  L  K  K  H  K  A  A  L  A  A  A  Q  Y  K  S  S  N  A  S         p.1500

          .         .         .         .         .         .       g.263854
 GAGACTGAACCTAATGCTATAAAAAATCAGACACTTTCAGCCTCCCTTCCTCTGGATAGC       c.4560
 E  T  E  P  N  A  I  K  N  Q  T  L  S  A  S  L  P  L  D  S         p.1520

          .         .         .         .         .         .       g.263914
 ACTGTAATCTGTAGTACAATTAACAAAGCAAACTCTGTAGGAAATGGGCAAGCTTCCCAG       c.4620
 T  V  I  C  S  T  I  N  K  A  N  S  V  G  N  G  Q  A  S  Q         p.1540

          .         .         .         .         .         .       g.263974
 ACAAGTCAACCAAACTACCATACTAAACTGAAAAAGGCCTGGCTCACCAGACACTCAGAA       c.4680
 T  S  Q  P  N  Y  H  T  K  L  K  K  A  W  L  T  R  H  S  E         p.1560

          .         .         .         .         .         .       g.264034
 GAAGATAAAAATACTAATAAAATGGAAAATTCAGGGAATTCTGTATCAGAAATTATTAAG       c.4740
 E  D  K  N  T  N  K  M  E  N  S  G  N  S  V  S  E  I  I  K         p.1580

          .         .         .         .         .         .       g.264094
 CCATGTTCTGTCAACTTAATAGCCTCTACATCTAGTGATATACAAAATAGTGTAGATAGT       c.4800
 P  C  S  V  N  L  I  A  S  T  S  S  D  I  Q  N  S  V  D  S         p.1600

          .         .         .         .         .         .       g.264154
 AAGATCATAGTTGATAAATATGTAAAAGATGATAAAGTCAACAGGAGAAAAGCCAAAAGA       c.4860
 K  I  I  V  D  K  Y  V  K  D  D  K  V  N  R  R  K  A  K  R         p.1620

          .         .         .         .         .         .       g.264214
 ACTTATGAATCTGGCTCTGAAAGTGGAGACTCAGATGAAAGTGAAAGCAAGTCAGAGCAA       c.4920
 T  Y  E  S  G  S  E  S  G  D  S  D  E  S  E  S  K  S  E  Q         p.1640

          .         .         .         .         .         .       g.264274
 AGGACTAAAAGACAACCTAAGCCAACTTACAAAAAGAAGCAAAATGATTTGCAAAAGAGA       c.4980
 R  T  K  R  Q  P  K  P  T  Y  K  K  K  Q  N  D  L  Q  K  R         p.1660

          .         .         .         .         .         .       g.264334
 AAAGGTGAAATAGAAGAAGATTTGAAACCCAATGGAGTTCTCAGCAGGAGTGCCAAAGAA       c.5040
 K  G  E  I  E  E  D  L  K  P  N  G  V  L  S  R  S  A  K  E         p.1680

          .         .         .     | 11   .         .         .    g.270311
 AGAAGTAAACTGAAGTTGCAAAGCAACAGTAATA | CTGGCATTCCTCGTTCAGTATTGAAA    c.5100
 R  S  K  L  K  L  Q  S  N  S  N  T |   G  I  P  R  S  V  L  K      p.1700

          .         .         .         .         .         .       g.270371
 GATTGGCGTAAAGTCAAGAAGCTGAAGCAAACTGGGGAATCCTTTTTACAGGATGACTCC       c.5160
 D  W  R  K  V  K  K  L  K  Q  T  G  E  S  F  L  Q  D  D  S         p.1720

          .         .         .         .         .         .       g.270431
 TGCTGTGAGATAGGGCCTAATTTACAAAAGTGTCGAGAATGTAGACTTATTCGCAGTAAA       c.5220
 C  C  E  I  G  P  N  L  Q  K  C  R  E  C  R  L  I  R  S  K         p.1740

          .         .         .         .         .       | 12 .    g.272239
 AAAGGAGAAGAACCAGCTCACTCACCAGTATTTTGTAGATTTTACTACTTTAGACG | GTTG    c.5280
 K  G  E  E  P  A  H  S  P  V  F  C  R  F  Y  Y  F  R  R  |  L      p.1760

          .         .         .         .         .         .       g.272299
 TCATTTAGTAAAAACGGAGTAGTTAGAATAGATGGTTTCTCTTCTCCTGACCAATATGAT       c.5340
 S  F  S  K  N  G  V  V  R  I  D  G  F  S  S  P  D  Q  Y  D         p.1780

          .         .         .         .         .         .       g.272359
 GATGAAGCTATGAGTTTGTGGACACATGAAAATTTTGAAGATGATGAACTAGATATAGAG       c.5400
 D  E  A  M  S  L  W  T  H  E  N  F  E  D  D  E  L  D  I  E         p.1800

          .         .         .         .         .         .       g.272419
 ACTTCTAAATATATCTTGGATATAATAGGTGATAAGTTCTGTCAATTAGTAACATCTGAA       c.5460
 T  S  K  Y  I  L  D  I  I  G  D  K  F  C  Q  L  V  T  S  E         p.1820

          .         .         .  | 13      .         .         .    g.273428
 AAAACAGCTTTGTCCTGGGTGAAAAAGGATG | CCAAAATTGCCTGGAAAAGAGCAGTGAGA    c.5520
 K  T  A  L  S  W  V  K  K  D  A |   K  I  A  W  K  R  A  V  R      p.1840

          .         .         .         .         .         .       g.273488
 GGAGTCCGGGAGATGTGTGATGCATGTGAAGCAACATTGTTTAACATTCACTGGGTCTGC       c.5580
 G  V  R  E  M  C  D  A  C  E  A  T  L  F  N  I  H  W  V  C         p.1860

          .         .         .         .         .         .       g.273548
 CAAAAATGTGGATTTGTGGTCTGCTTAGATTGTTACAAGGCAAAGGAAAGGAAGAGTTCT       c.5640
 Q  K  C  G  F  V  V  C  L  D  C  Y  K  A  K  E  R  K  S  S         p.1880

      | 14   .         .         .         .         .         .    g.276643
 AGAG | ATAAAGAACTATATGCTTGGATGAAGTGTGTGAAGGGACAGCCTCATGATCACAAA    c.5700
 R  D |   K  E  L  Y  A  W  M  K  C  V  K  G  Q  P  H  D  H  K      p.1900

          .         .         .     | 15   .         .         .    g.277516
 CATTTAATGCCAACCCAAATTATACCTGGTTCTG | TTTTGACAGATCTTCTAGATGCCATG    c.5760
 H  L  M  P  T  Q  I  I  P  G  S  V |   L  T  D  L  L  D  A  M      p.1920

          .         .         .         .         .         .       g.277576
 CACACTCTTAGGGAAAAATATGGTATTAAATCCCATTGTCATTGTACTAACAAACAGAAT       c.5820
 H  T  L  R  E  K  Y  G  I  K  S  H  C  H  C  T  N  K  Q  N         p.1940

          .         .         .         .   | 16     .         .    g.277829
 TTACAAGTTGGAAATTTTCCTACAATGAATGGTGTATCTCAA | GTTTTACAGAATGTTCTT    c.5880
 L  Q  V  G  N  F  P  T  M  N  G  V  S  Q   | V  L  Q  N  V  L      p.1960

          .         .         .         .         .         .       g.277889
 AATCACAGTAATAAAATTTCTCTGTGCATGCCTGAGTCTCAGCAGCAAAATACTCCTCCG       c.5940
 N  H  S  N  K  I  S  L  C  M  P  E  S  Q  Q  Q  N  T  P  P         p.1980

          .         .         .         .         .         .       g.277949
 AAGTCTGAGAAAAATGGTGGCAGCAGCCCAGAGAGTGATGTAGGCACAGATAACAAGTTA       c.6000
 K  S  E  K  N  G  G  S  S  P  E  S  D  V  G  T  D  N  K  L         p.2000

          .         .         .         .         .         .       g.278009
 ACTCCTCCAGAATCCCAGTCACCACTGCACTGGTTAGCAGATCTTGCAGAGCAAAAAGCC       c.6060
 T  P  P  E  S  Q  S  P  L  H  W  L  A  D  L  A  E  Q  K  A         p.2020

          .       | 17 .         .         .         .         .    g.279898
 AGAGAGGAAAAAAAAG | AAAACAAAGAACTTACCCTTGAAAACCAAATTAAAGAAGAAAGA    c.6120
 R  E  E  K  K  E |   N  K  E  L  T  L  E  N  Q  I  K  E  E  R      p.2040

          .         .         .         .         .         .       g.279958
 GAACAAGACAACTCTGAATCTCCAAATGGCAGAACATCACCTCTTGTGTCCCAGAATAAT       c.6180
 E  Q  D  N  S  E  S  P  N  G  R  T  S  P  L  V  S  Q  N  N         p.2060

          .         .         .         .         .         .       g.280018
 GAACAAGGCTCAACCTTACGGGATTTGCTGACTACAACAGCTGGAAAGCTACGTGTGGGG       c.6240
 E  Q  G  S  T  L  R  D  L  L  T  T  T  A  G  K  L  R  V  G         p.2080

          .         .         .         .         .  | 18      .    g.281525
 TCTACAGATGCTGGCATTGCCTTTGCCCCAGTATATTCAATGGGAGCCCCA | AGTAGCAAA    c.6300
 S  T  D  A  G  I  A  F  A  P  V  Y  S  M  G  A  P   | S  S  K      p.2100

          .         .         .         .         .         .       g.281585
 AGTGGACGGACTATGCCTAACATTCTTGATGACATAATTGCTTCAGTTGTTGAAAACAAA       c.6360
 S  G  R  T  M  P  N  I  L  D  D  I  I  A  S  V  V  E  N  K         p.2120

          .         .         .         .         .         .       g.281645
 ATTCCACCAAGTAAAACCTCCAAGATAAATGTAAAACCAGAGCTTAAAGAAGAGCCTGAA       c.6420
 I  P  P  S  K  T  S  K  I  N  V  K  P  E  L  K  E  E  P  E         p.2140

          .         .         .         .         .         .       g.281705
 GAAAGCATAATATCTGCAGTGGATGAAAATAATAAATTATACAGTGATATACCACATTCT       c.6480
 E  S  I  I  S  A  V  D  E  N  N  K  L  Y  S  D  I  P  H  S         p.2160

          .         .         .         .         .         .       g.281765
 TGGATCTGTGAGAAGCATATTTTATGGCTTAAGGATTATAAGAATAGCAGTAATTGGAAG       c.6540
 W  I  C  E  K  H  I  L  W  L  K  D  Y  K  N  S  S  N  W  K         p.2180

          .         .         . | 19       .         .         .    g.284609
 CTTTTCAAAGAATGTTGGAAACAAGGACAG | CCTGCAGTGGTTTCTGGTGTGCATAAGAAA    c.6600
 L  F  K  E  C  W  K  Q  G  Q   | P  A  V  V  S  G  V  H  K  K      p.2200

          .         .         .         .         .         .       g.284669
 ATGAACATTAGCCTATGGAAGGCGGAATCAATTAGTCTTGATTTTGGAGACCACCAAGCT       c.6660
 M  N  I  S  L  W  K  A  E  S  I  S  L  D  F  G  D  H  Q  A         p.2220

          .         .         .         .         .         .       g.284729
 GATCTCCTGAACTGCAAAGATAGCATCATTTCAAATGCCAATGTTAAGGAATTCTGGGAT       c.6720
 D  L  L  N  C  K  D  S  I  I  S  N  A  N  V  K  E  F  W  D         p.2240

          .          | 20        .         .         .         .    g.285350
 GGTTTTGAAGAAGTTTCAA | AACGGCAGAAAAACAAGAGTGGAGAAACAGTTGTTTTAAAA    c.6780
 G  F  E  E  V  S  K |   R  Q  K  N  K  S  G  E  T  V  V  L  K      p.2260

          .         .         .         .         . | 21       .    g.286234
 TTGAAAGACTGGCCTTCAGGAGAAGACTTCAAGACTATGATGCCAGCAAG | ATACGAAGAT    c.6840
 L  K  D  W  P  S  G  E  D  F  K  T  M  M  P  A  R  |  Y  E  D      p.2280

          .         .         .         .         .         .       g.286294
 CTTTTAAAAAGTCTGCCATTGCCAGAATATTGTAATCCAGAAGGAAAATTCAATTTGGCC       c.6900
 L  L  K  S  L  P  L  P  E  Y  C  N  P  E  G  K  F  N  L  A         p.2300

          .         .         .         .         .         .       g.286354
 TCTCATTTGCCAGGATTTTTTGTACGTCCTGATCTAGGACCCAGGTTGTGCAGTGCCTAT       c.6960
 S  H  L  P  G  F  F  V  R  P  D  L  G  P  R  L  C  S  A  Y         p.2320

   | 22      .         .         .         .         .         .    g.287452
 G | GTGTAGTTGCTGCTAAAGATCATGATATAGGAACAACAAATCTCCATATTGAAGTTTCT    c.7020
 G |   V  V  A  A  K  D  H  D  I  G  T  T  N  L  H  I  E  V  S      p.2340

          .         .         .         .         .         .       g.287512
 GATGTTGTAAATATACTAGTTTATGTTGGCATAGCAAAAGGAAATGGCATTCTCTCAAAA       c.7080
 D  V  V  N  I  L  V  Y  V  G  I  A  K  G  N  G  I  L  S  K         p.2360

      | 23   .         .         .         .         .         .    g.293162
 GCAG | GAATTCTCAAGAAATTTGAGGAAGAAGATTTGGATGACATTTTAAGGAAAAGATTG    c.7140
 A  G |   I  L  K  K  F  E  E  E  D  L  D  D  I  L  R  K  R  L      p.2380

          .         .         .         .         .         .       g.293222
 AAGGACTCAAGTGAAATACCTGGTGCTCTGTGGCATATTTATGCTGGGAAAGATGTTGAC       c.7200
 K  D  S  S  E  I  P  G  A  L  W  H  I  Y  A  G  K  D  V  D         p.2400

          .         .     | 24   .         .         .         .    g.294525
 AAGATAAGGGAATTTCTTCAAAAG | ATTTCAAAAGAACAAGGCCTTGAAGTTCTACCAGAA    c.7260
 K  I  R  E  F  L  Q  K   | I  S  K  E  Q  G  L  E  V  L  P  E      p.2420

          .         .         .         .         .         .       g.294585
 CATGATCCAATACGTGACCAAAGTTGGTATGTGAACAAAAAGCTCCGTCAAAGGCTGCTT       c.7320
 H  D  P  I  R  D  Q  S  W  Y  V  N  K  K  L  R  Q  R  L  L         p.2440

          .         .         .         .         .         .       g.294645
 GAAGAATATGGAGTCAGAACCTGTACTCTTATTCAGTTCCTTGGTGATGCTATTGTTTTG       c.7380
 E  E  Y  G  V  R  T  C  T  L  I  Q  F  L  G  D  A  I  V  L         p.2460

          .         .  | 25      .         .         .         .    g.302435
 CCAGCGGGAGCACTTCATCAG | GTTCAGAATTTTCACAGCTGTATTCAGGTAACTGAAGAT    c.7440
 P  A  G  A  L  H  Q   | V  Q  N  F  H  S  C  I  Q  V  T  E  D      p.2480

          .         .         .         .         .         .       g.302495
 TTTGTGTCTCCAGAACATCTTGTAGAGTCATTTCATTTAACACAGGAACTGAGACTTTTG       c.7500
 F  V  S  P  E  H  L  V  E  S  F  H  L  T  Q  E  L  R  L  L         p.2500

          .         .         .    | 26    .         .         .    g.302855
 AAGGAAGAAATCAATTATGATGATAAACTACAG | GTTAAAAATATTTTGTATCATGCAGTC    c.7560
 K  E  E  I  N  Y  D  D  K  L  Q   | V  K  N  I  L  Y  H  A  V      p.2520

          .         .         .         .         .         .       g.302915
 AAAGAAATGGTGAGAGCCTTGAAGATACACGAGGATGAAGTAGAGGATATGGAAGAAAAT       c.7620
 K  E  M  V  R  A  L  K  I  H  E  D  E  V  E  D  M  E  E  N         p.2540

                                                                    g.302918
 TAA                                                                c.7623
 X                                                                  p.2540

          .         .         .         .         .         .       g.302978
 gtgtgatccagtttgatatttttaggttgttgaactgggattacttaaccttgaatgatg       c.*60

          .         .         .         .         .         .       g.303038
 atatgtatgcacactgactttaagcttcataaaaccatcagtgccaagaaattctctttg       c.*120

          .         .         .         .         .         .       g.303098
 tagtaattacttgttactgacaccacagcagtatagcatatgtcacagctcctgtgattc       c.*180

          .         .         .         .         .         .       g.303158
 aatgttataaaacaagcagaattttaaaagcagcactatatagctgttttgtattatagt       c.*240

          .         .         .         .         .         .       g.303218
 gtatatgatgtttgtgaaaatgccagatttaaaatgatgtatttatttttggtaaaaaat       c.*300

          .         .         .         .         .         .       g.303278
 aaaaaattctatgctatattgttgatcaagtgtaaatgtgaccttgtacagtttactaaa       c.*360

          .         .         .         .         .         .       g.303338
 attactgatatttttcactacattgagacagttactgtgagaataggacacaaacaccag       c.*420

          .         .         .         .         .         .       g.303398
 ctattgcctgcatctgggaaattgctgaatcgcacagcagtcatgtcataatcagaaaat       c.*480

          .         .         .         .         .         .       g.303458
 tactgccaaataattgtaaaatttgtaaagtataaagtatataaagtagatactaaatac       c.*540

          .         .         .         .         .         .       g.303518
 agacacttcaatattttgttgaagctattgactgtacaattaaacattttcaaaaggtgt       c.*600

          .         .         .         .         .         .       g.303578
 aatttatttaaaattgtctcattttggtaaaatttatgtgaacttttaaagctaaatatt       c.*660

          .         .         .         .         .         .       g.303638
 aaacttaatatgctatgtaaatatatacatatatacatttaatgatgtatttttttaaaa       c.*720

          .         .         .         .         .         .       g.303698
 cattggcttgcttttgttaaagtgcaagtgttacatatggctttgtacattaaagttgaa       c.*780

          .         .         .         .                           g.303738
 aggggttttacattttccattaaaaggactttatcaaaaa                           c.*820

 (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 Jumonji domain containing 1C 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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