(used for variant description)
(last modified August 1, 2012)
This file was created to facilitate the description of sequence variants on transcript NM_030653.3 in the DDX11 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering DDX11 transcript NM_030653.3.
(upstream sequence)
. g.5011
tgcgcagcggc c.-241
. . . . . . g.5071
gggggttgttccggctgcctttcactgaggggacccgccagtttctaactcagtggcgtt c.-181
. . . . . . g.5131
tgccctgattcccggggcctggctttcagcgtagcaattctgccggcgaagaaggtgagc c.-121
. . . . . . g.5191
gcagtgctgtgtggcagcagagctccttaggacgaggagcagcgggacgaggaagggcag c.-61
. . . . . . | 02 g.9549
actggtgaaatcgcaaactgggcgtctgttccggcgccggacccctatttgcaaag | gtcc c.-1
. . . . . . g.9609
ATGGCTAATGAAACACAGAAGGTTGGTGCCATCCATTTTCCTTTTCCCTTCACACCCTAT c.60
M A N E T Q K V G A I H F P F P F T P Y p.20
. . . . . . g.9669
TCCATCCAGGAAGACTTCATGGCAGAGCTGTACCGGGTTTTGGAGGCTGGCAAGATTGGG c.120
S I Q E D F M A E L Y R V L E A G K I G p.40
. . | 03 . . . . g.15004
ATATTTGAGAGTCCAACTGGCACT | GGGAAGTCCTTAAGTCTTATTTGTGGGGCCCTCTCT c.180
I F E S P T G T | G K S L S L I C G A L S p.60
. . . . . . g.15064
TGGCTCCGTGACTTTGAACAGAAGAAGCGTGAAGAAGAGGCACGACTCCTTGAAACTGGA c.240
W L R D F E Q K K R E E E A R L L E T G p.80
. . . . . . g.15124
ACTGGCCCCTTACATGATGAGAAAGATGAATCCCTGTGTCTGTCTTCTTCCTGCGAAGGG c.300
T G P L H D E K D E S L C L S S S C E G p.100
. . . . . . g.15184
GCTGCAGGCACCCCGAGGCCTGCTGGAGAACCGGCCTGGGTTACTCAGTTTGTGCAGAAG c.360
A A G T P R P A G E P A W V T Q F V Q K p.120
. . . | 04 . . . g.15765
AAAGAAGAGAGGGACCTGGTGGACCGACTAAAG | GCGGAGCAGGCCAGGAGGAAGCAGCGA c.420
K E E R D L V D R L K | A E Q A R R K Q R p.140
. . . . . . g.15825
GAAGAACGCCTGCAGCAGCTGCAGCACAGGGTGCAGCTCAAGTATGCAGCCAAGCGCCTG c.480
E E R L Q Q L Q H R V Q L K Y A A K R L p.160
| 05 . . . . . . g.16184
| AGGCAGGAAGAAGAAGAAAGAGAGAATCTCCTCCGCCTCAGCAGGGAGATGCTAGAGACA c.540
| R Q E E E E R E N L L R L S R E M L E T p.180
. . . . . . g.16244
GGCCCGGAGGCTGAGCGGCTGGAGCAGCTGGAGTCTGGGGAGGAGGAGCTGGTCCTCGCC c.600
G P E A E R L E Q L E S G E E E L V L A p.200
. . . | 06 . . g.19115
GAATACGAGAGTGATGAGGAGAAAAAGGTGGCGAGCAG | AGTGGATGAGGATGAGGATGAC c.660
E Y E S D E E K K V A S R | V D E D E D D p.220
. . | 07 . . . . g.20235
CTGGAGGAAGAACACATAACTAAG | ATTTATTACTGTAGTCGGACACACTCCCAGCTGGCC c.720
L E E E H I T K | I Y Y C S R T H S Q L A p.240
. . . . . . g.20295
CAGTTTGTGCATGAGGTGAAGAAGAGCCCCTTTGGCAAGGATGTTCGGCTGGTCTCCCTT c.780
Q F V H E V K K S P F G K D V R L V S L p.260
. | 08 . . . . . g.20606
GGCTCCCGGCAG | AACCTTTGTGTAAATGAAGACGTGAAAAGCCTAGGTTCTGTGCAGCTT c.840
G S R Q | N L C V N E D V K S L G S V Q L p.280
. . . . | 09 . . g.21061
ATCAACGACCGCTGTGTGGACATGCAGAGAAGCAGGCACG | AGAAGAAGAAAGGAGCTGAG c.900
I N D R C V D M Q R S R H E | K K K G A E p.300
. . . . . . g.21121
GAGGAGAAGCCAAAGAGGAGGAGGCAGGAGAAGCAGGCAGCCTGCCCCTTCTACAACCAC c.960
E E K P K R R R Q E K Q A A C P F Y N H p.320
. . . . . . g.21181
GAGCAGATGGGCCTTCTCCGGGATGAGGCCCTGGCAGAGGTGAAGGACATGGAGCAGCTG c.1020
E Q M G L L R D E A L A E V K D M E Q L p.340
. . . . . . g.21241
CTGGCCCTTGGGAAGGAGGCCCGGGCCTGTCCCTATTACGGGAGCCGCCTTGCCATCCCT c.1080
L A L G K E A R A C P Y Y G S R L A I P p.360
| 10 . . . . . g.22925
GCAGCCCAG | CTGGTGGTGCTGCCCTATCAGATGCTGCTGCATGCGGCCACTCGGCAGGCC c.1140
A A Q | L V V L P Y Q M L L H A A T R Q A p.380
. . . . . . g.22985
GCGGGCATCCGGCTGCAGGACCAGGTGGTGATCATCGACGAGGCGCACAACCTGATCGAC c.1200
A G I R L Q D Q V V I I D E A H N L I D p.400
. . . . | 11 . . g.24019
ACCATCACGGGCATGCACAGCGTGGAGGTCAGCGGCTCCCAG | CTCTGCCAGGCCCATTCC c.1260
T I T G M H S V E V S G S Q | L C Q A H S p.420
. . | 12 . . . g.24431
CAGCTGCTGCAGTACGTGGAGCGATACGG | GAAGCGTTTGAAGGCCAAGAACCTGATGTAC c.1320
Q L L Q Y V E R Y G | K R L K A K N L M Y p.440
. . . . | 13 . g.25756
CTGAAGCAGATCCTGTATTTGCTGGAGAAATTCGTGGCTGTGCTAGGGG | GGAACATTAAG c.1380
L K Q I L Y L L E K F V A V L G G | N I K p.460
. . . | 14 . . . g.25936
CAAAATCCCAATACACAGAGTCTGTCACAGACAG | GGACGGAGCTGAAGACCATCAACGAC c.1440
Q N P N T Q S L S Q T G | T E L K T I N D p.480
. . . . | 15 . . g.27514
TTTCTCTTCCAGAGCCAGATCGACAACATCAACCTGTTCAAG | GTGCAGCGATACTGTGAG c.1500
F L F Q S Q I D N I N L F K | V Q R Y C E p.500
. . | 16 . . . . g.27831
AAGAGCATGATCAGCAGAAAG | CTCTTTGGATTCACTGAACGGTACGGAGCAGTGTTCTCA c.1560
K S M I S R K | L F G F T E R Y G A V F S p.520
. . . . . . g.27891
TCCCGGGAGCAGCCCAAACTGGCTGGGTTTCAGCAATTCCTGCAGAGCCTGCAGCCCAGG c.1620
S R E Q P K L A G F Q Q F L Q S L Q P R p.540
. | 17 . . . . . g.28064
ACGACTGAAG | CTCTTGCAGCCCCTGCAGACGAGAGTCAGGCCAGCACCCTGCGACCAGCT c.1680
T T E A | L A A P A D E S Q A S T L R P A p.560
. . . . . . g.28124
TCTCCACTGATGCACATCCAAGGCTTCCTGGCAGCTCTCACTACGGCCAACCAGGACGGC c.1740
S P L M H I Q G F L A A L T T A N Q D G p.580
. . | 18 . . . . g.29078
AGGGTCATCCTGAGCCGCCAAG | GCAGCCTCAGTCAGAGCACCCTGAAGTTTTTGCTCCTG c.1800
R V I L S R Q G | S L S Q S T L K F L L L p.600
. . . . . . g.29138
AATCCAGCTGTGCACTTTGCCCAAGTGGTGAAGGAATGCCGGGCAGTGGTCATTGCGGGG c.1860
N P A V H F A Q V V K E C R A V V I A G p.620
. | 19 . . . . . g.31835
GGTACCATGCAGCCG | GTGTCTGACTTCCGGCAGCAGCTGCTGGCCTGTGCCGGGGTGGAA c.1920
G T M Q P | V S D F R Q Q L L A C A G V E p.640
. . | 20 . . . g.32214
GCTGAGCGCGTGGTGGAGTTTTCCTGTG | GTCACGTGATCCCTCCAGACAACATCCTGCCC c.1980
A E R V V E F S C G | H V I P P D N I L P p.660
. . . . . . g.32274
CTCGTCATCTGCAGCGGGATCTCCAACCAGCCGCTGGAATTCACGTTCCAGAAAAGAGAG c.2040
L V I C S G I S N Q P L E F T F Q K R E p.680
. | 21 . . . . . g.33036
CTGCCTCAGATG | ATGGACGAGGTGGGTCGCATTCTCTGTAACCTGTGCGGTGTGGTTCCT c.2100
L P Q M | M D E V G R I L C N L C G V V P p.700
. . . . . . g.33096
GGAGGGGTGGTCTGTTTCTTCCCCTCCTACGAGTACCTGCGCCAGGTCCATGCCCACTGG c.2160
G G V V C F F P S Y E Y L R Q V H A H W p.720
. . . . | 22 . . g.33416
GAGAAGGGTGGCCTGCTGGGCCGTCTGGCTGCCAGGAAGAAG | ATATTCCAGGAACCTAAG c.2220
E K G G L L G R L A A R K K | I F Q E P K p.740
. . . . . | 23 . g.33591
AGCGCACACCAGGTGGAGCAGGTGCTGCTGGCATATTCCAGGTGCATCCAG | GCCTGTGGC c.2280
S A H Q V E Q V L L A Y S R C I Q | A C G p.760
. . . . . . g.33651
CAGGAGAGAGGCCAGGTGACAGGGGCCCTGCTCCTCTCTGTGGTTGGAGGAAAGATGAGT c.2340
Q E R G Q V T G A L L L S V V G G K M S p.780
. . . | 24 . . . g.34119
GAAGGGATCAACTTCTCTGACAACCTAGGCCG | GTGTGTGGTGATGGTGGGCATGCCCTTC c.2400
E G I N F S D N L G R | C V V M V G M P F p.800
. . . . . | 25. g.34475
CCCAACATCAGGTCTGCAGAGCTGCAGGAGAAGATGGCCTACTTGGATCAAACCCTC | CCC c.2460
P N I R S A E L Q E K M A Y L D Q T L | P p.820
. . . . . . g.34535
AGAGCCCCCGGCCAGGCACCCCCAGGGAAGGCTCTGGTGGAGAACCTGTGCATGAAGGCC c.2520
R A P G Q A P P G K A L V E N L C M K A p.840
. | 26 . . . . . g.34776
GTCAACCAGTCCATAG | GCAGGGCCATCAGGCACCAGAAGGATTTTGCCAGCGTAGTGCTC c.2580
V N Q S I G | R A I R H Q K D F A S V V L p.860
. . . . . . g.34836
CTGGACCAGCGATATGCCCGGCCCCCTGTCCTGGCCAAGCTGCCGGCCTGGATCCGAGCC c.2640
L D Q R Y A R P P V L A K L P A W I R A p.880
. . . . . | 27 . g.34971
CGTGTGGAGGTCAAAGCTACCTTTGGCCCCGCCATTGCTGCTGTGCAGAAG | TTTCACCGG c.2700
R V E V K A T F G P A I A A V Q K | F H R p.900
. . g.34992
GAGAAGTCGGCCTCTTCCTGA c.2721
E K S A S S X p.906
. . . . . . g.35052
tgggcaaccacaccactgcctggcgccgtgcccttcctttgtcctgcccgctggagacag c.*60
. . . . . . g.35112
tgtttgtcgtgggcgtggtctgcggggatcctgttacaaaggtgaaacccaggaggagag c.*120
. . . . . . g.35172
tgtggagtccagagtgctgccaggacccaggcacaggcgttagctcccgtaggagaaaat c.*180
. . . . . . g.35232
gggggaatcctgaatgaacagtgggtcctggctgtccttggggcgttccagggcagctcc c.*240
. . . . . . g.35292
cctcctggaatagaatctttctttccatcctgcatggctgagagccaggcttccttcctg c.*300
. . . . . . g.35352
gtctccgcaggaggctgtggcagctgtggcatccactgtggcatctccgtcctgcccacc c.*360
. . . . . . g.35412
ttcttaagaggcgagatggagcaggcccatctgcctctgccctttctagccaaggttata c.*420
. . . . . . g.35472
gctgccctggactgctcactctctggtctcaatttaaaatgatccatggccacagggctc c.*480
. . . . . . g.35532
ctgcccaggggcttgtcaccttcccctcctccttcctgagtcactccttcagtagaaggc c.*540
. . . . . . g.35592
cctgctccctatcctgtcccacagccctgcctggatttgtatccttggcttcgtgccagt c.*600
. . . . . . g.35652
tcctccaagtctatggcacctccctccctctcaaccacttgagcaaactccaagacacct c.*660
. . . . . . g.35712
tctaccccaacaccagcaattatgccaagggccgttaggctctcaacatgactatagaga c.*720
. . . . . . g.35772
ccccgtgtcatcacggagacctttgttcctgtgggaaaatatccctcccacctgcaacag c.*780
. . . . . . g.35832
ctgcccctgctgactgcgcctgtcttctccctctgaccccagagaaaggggctgtggtca c.*840
. . . . . . g.35892
gctgggatcttctgccaccatcagggacaaacgggggcaggaggaaagtcactgatgccc c.*900
. . . . . g.35947
agatgtttgcatcctgcacagctataggtccttaaataaaagtgtgctgttggtt c.*955
(downstream sequence)
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