(used for variant description)
(last modified June 29, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_016651.5 in the DACT1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032025.1, covering DACT1 transcript NM_016651.5.
(upstream sequence)
. . . . g.9015
ggcggtcgcgcgcaggactcgagggcttctagccaccgtccccg c.-121
. . . . . . g.9075
ccagcgccgcgccccgccacagggcggcatgagcccacccgcggccgcagccctagcgcc c.-61
. . . . . . g.9135
ctgctcctccgcctgggcggcccggctgcggtgacggctctcgctgcccgactgggggcc c.-1
. . . . . . g.9195
ATGAAGCCGAGTCCGGCCGGGACGGCGAAGGAGCTGGAGCCTCCGGCGCCGGCCCGAGGC c.60
M K P S P A G T A K E L E P P A P A R G p.20
. . . . . . g.9255
GAGCAGCGCACGGCGGAGCCCGAGGGGCGCTGGCGGGAGAAGGGCGAGGCAGACACCGAG c.120
E Q R T A E P E G R W R E K G E A D T E p.40
. . . . . . g.9315
CGGCAGCGCACCCGGGAGCGGCAGGAGGCCACGCTGGCCGGGCTGGCGGAGCTGGAGTAC c.180
R Q R T R E R Q E A T L A G L A E L E Y p.60
. . . . . . g.9375
CTGCGCCAGCGCCAAGAGCTGCTGGTCAGGGGCGCCCTGCGCGGCGCCGGGGGTGCGGGA c.240
L R Q R Q E L L V R G A L R G A G G A G p.80
. . . . . . g.9435
GCCGCTGCGCCCCGCGCTGGGGAGCTACTGGGGGAGGCGGCGCAGCGCAGTCGCCTGGAG c.300
A A A P R A G E L L G E A A Q R S R L E p.100
. . . . | 02 . . g.11683
GAGAAGTTCTTGGAGGAGAACATCTTGCTGCTAAGAAAGCAATTG | AACTGTTTGAGGCGA c.360
E K F L E E N I L L L R K Q L | N C L R R p.120
. . . . . . g.11743
AGAGATGCTGGTTTGTTGAATCAGTTGCAAGAGCTTGACAAGCAGATAAGTGACCTGAGA c.420
R D A G L L N Q L Q E L D K Q I S D L R p.140
. . . . . | 03 g.12526
CTGGATGTAGAAAAGACATCTGAAGAGCACCTGGAGACAGACAGTCGGCCTAGCTCAG | GG c.480
L D V E K T S E E H L E T D S R P S S G | p.160
. . . . . . g.12586
TTTTATGAGCTGAGTGATGGGGCTTCAGGATCCCTTTCCAATTCCTCTAACTCGGTGTTC c.540
F Y E L S D G A S G S L S N S S N S V F p.180
. . . . . . g.12646
AGTGAGTGTTTATCCAGTTGTCATTCCAGCACCTGCTTTTGCAGCCCCTTGGAGGCGACC c.600
S E C L S S C H S S T C F C S P L E A T p.200
. . . | 04 . . . g.16216
TTGAGTCTCTCAGATGGTTGCCCCAAATCTGCAG | ATCTCATAGGATTGTTGGAATATAAA c.660
L S L S D G C P K S A D | L I G L L E Y K p.220
. . . . . . g.16276
GAAGGCCACTGTGAAGACCAGGCCTCAGGGGCAGTTTGCCGTTCCCTCTCCACACCACAA c.720
E G H C E D Q A S G A V C R S L S T P Q p.240
. . . . . . g.16336
TTTAATTCCCTTGATGTCATTGCAGATGTGAATCCCAAGTACCAGTGTGATCTGGTGTCT c.780
F N S L D V I A D V N P K Y Q C D L V S p.260
. . . . . . g.16396
AAAAACGGGAATGATGTATATCGCTATCCCAGTCCACTTCATGCTGTGGCTGTGCAGAGC c.840
K N G N D V Y R Y P S P L H A V A V Q S p.280
. . . . . . g.16456
CCAATGTTTCTCCTTTGTCTGACGGGCAACCCTCTGAGGGAAGAGGACAGGCTTGGAAAC c.900
P M F L L C L T G N P L R E E D R L G N p.300
. . . . . . g.16516
CATGCCAGTGACATTTGCGGTGGATCTGAGCTAGATGCCGTCAAAACAGACAGTTCCTTA c.960
H A S D I C G G S E L D A V K T D S S L p.320
. . . . . . g.16576
CCGTCCCCAAGCAGTCTGTGGTCTGCTTCCCATCCTTCATCCAGCAAGAAAATGGATGGC c.1020
P S P S S L W S A S H P S S S K K M D G p.340
. . . . . . g.16636
TACATTCTGAGCCTGGTCCAGAAAAAAACACACCCTGTAAGGACCAACAAACCAAGAACC c.1080
Y I L S L V Q K K T H P V R T N K P R T p.360
. . . . . . g.16696
AGCGTGAACGCTGACCCCACGAAAGGGCTTCTGAGGAACGGGAGCGTTTGTGTCAGAGCC c.1140
S V N A D P T K G L L R N G S V C V R A p.380
. . . . . . g.16756
CCGGGCGGTGTCTCACAGGGCAACAGTGTGAACCTTAAGAATTCGAAACAGGCGTGTCTG c.1200
P G G V S Q G N S V N L K N S K Q A C L p.400
. . . . . . g.16816
CCCTCTGGCGGGATACCTTCTCTGAACAATGGGACATTCTCCCCACCGAAGCAGTGGTCG c.1260
P S G G I P S L N N G T F S P P K Q W S p.420
. . . . . . g.16876
AAAGAATCAAAGGCCGAACAAGCCGAAAGCAAGAGGGTGCCCCTGCCAGAGGGCTGCCCC c.1320
K E S K A E Q A E S K R V P L P E G C P p.440
. . . . . . g.16936
TCAGGCGCTGCCTCCGACCTTCAGAGTAAGCACCTGCCAAAAACGGCCAAGCCAGCCTCG c.1380
S G A A S D L Q S K H L P K T A K P A S p.460
. . . . . . g.16996
CAAGAACATGCTCGGTGTTCCGCCATTGGGACAGGGGAGTCCCCTAAGGAAAGCGCTCAG c.1440
Q E H A R C S A I G T G E S P K E S A Q p.480
. . . . . . g.17056
CTCTCAGGGGCCTCTCCAAAAGAGAGTCCTAGCAGAGGCCCTGCCCCGCCGCAGGAGAAC c.1500
L S G A S P K E S P S R G P A P P Q E N p.500
. . . . . . g.17116
AAAGTTGTACAGCCCCTGAAAAAGATGTCACAGAAAAACAGCCTGCAGGGCGTCCCCCCG c.1560
K V V Q P L K K M S Q K N S L Q G V P P p.520
. . . . . . g.17176
GCCACTCCTCCCCTGCTGTCTACAGCTTTCCCCGTGGAAGAGAGGCCTGCCTTGGATTTC c.1620
A T P P L L S T A F P V E E R P A L D F p.540
. . . . . . g.17236
AAGAGCGAGGGCTCTTCCCAAAGCCTGGAGGAAGCGCACCTGGTCAAGGCCCAGTTTATC c.1680
K S E G S S Q S L E E A H L V K A Q F I p.560
. . . . . . g.17296
CCGGGGCAGCAGCCCAGTGTCAGGCTCCACCGGGGCCACAGGAACATGGGCGTCGTGAAG c.1740
P G Q Q P S V R L H R G H R N M G V V K p.580
. . . . . . g.17356
AACTCCAGCCTGAAGCACCGCGGCCCAGCCCTCCAGGGGCTGGAGAACGGCTTGCCCACC c.1800
N S S L K H R G P A L Q G L E N G L P T p.600
. . . . . . g.17416
GTCAGGGAGAAAACGCGGGCCGGGAGCAAGAAGTGTCGCTTCCCAGATGACTTGGATACA c.1860
V R E K T R A G S K K C R F P D D L D T p.620
. . . . . . g.17476
AATAAGAAACTCAAGAAAGCCTCCTCCAAGGGGAGGAAGAGTGGGGGCGGGCCCGAGGCT c.1920
N K K L K K A S S K G R K S G G G P E A p.640
. . . . . . g.17536
GGTGTTCCCGGCAGGCCCGCGGGCGGGGGCCACAGGGCGGGGAGCAGGGCGCATGGCCAC c.1980
G V P G R P A G G G H R A G S R A H G H p.660
. . . . . . g.17596
GGACGGGAGGCGGTGGTGGCCAAACCTAAGCACAAGCGAACTGACTACCGGCGGTGGAAG c.2040
G R E A V V A K P K H K R T D Y R R W K p.680
. . . . . . g.17656
TCCTCGGCCGAGATTTCCTACGAAGAGGCCCTGAGGAGGGCCCGGCGCGGTCGCCGGGAG c.2100
S S A E I S Y E E A L R R A R R G R R E p.700
. . . . . . g.17716
AATGTGGGGCTGTACCCCGCGCCTGTGCCTCTGCCCTACGCCAGCCCCTACGCCTACGTG c.2160
N V G L Y P A P V P L P Y A S P Y A Y V p.720
. . . . . . g.17776
GCTAGCGACTCCGAGTACTCGGCCGAGTGCGAGTCCCTGTTCCACTCCACCGTGGTGGAC c.2220
A S D S E Y S A E C E S L F H S T V V D p.740
. . . . . . g.17836
ACCAGTGAGGACGAGCAGAGCAATTACACCACCAACTGCTTCGGGGACAGCGAGTCGAGT c.2280
T S E D E Q S N Y T T N C F G D S E S S p.760
. . . . . . g.17896
GTGAGCGAGGGCGAGTTCGTGGGGGAGAGCACAACCACCAGCGACTCTGAAGAAAGCGGG c.2340
V S E G E F V G E S T T T S D S E E S G p.780
. . . . . . g.17956
GGCTTAATTTGGTCCCAGTTTGTCCAGACTCTGCCCATTCAAACGGTAACGGCCCCAGAC c.2400
G L I W S Q F V Q T L P I Q T V T A P D p.800
. . . . . . g.18016
CTTCACAACCACCCCGCAAAAACCTTTGTCAAAATTAAGGCCTCACATAACCTCAAGAAG c.2460
L H N H P A K T F V K I K A S H N L K K p.820
. . . . . g.18067
AAGATCCTCCGCTTTCGGTCTGGCTCTTTGAAACTGATGACGACGGTTTGA c.2511
K I L R F R S G S L K L M T T V X p.836
. . . . . . g.18127
gtgacatcattggtgtagaaagtttgtgtgtttttttttcttctccctagttgccaaaat c.*60
. . . . . . g.18187
taaaaaggtggtgttttcatttttgtataatactttaatggaatgctttttaaaaaaata c.*120
. . . . . . g.18247
taaaaccaaggtaaattattgtttcatcttcacgtatggatgctagtgcctttaatggaa c.*180
. . . . . . g.18307
ggtaaagaatgttttgctagttagaagtacatattgaggttttaatggtggtgatagtga c.*240
. . . . . . g.18367
gttttgtggcaccagctgttttttattttaaactttctgagcatccggcaaggtacaggt c.*300
. . . . . . g.18427
tttgatgttcaagttttattgggataagatcttttgatcccaaggtcaggtggatggaat c.*360
. . . . . . g.18487
ttttggatttatatttgttccttgagtcttcagggcagtgtctccatgagggttttcctg c.*420
. . . . . . g.18547
ttgaggggcaccacatacaatagtgtgaagtaggtatgaggggcagtcattgtattctat c.*480
. . . . . . g.18607
agtttttttatgtagtctacatttctcagatgtatccccattcggttttattctcagaac c.*540
. . . . . . g.18667
tgttactagactcatgacttggaggccaaaccttaaatccagagatagcagcctcgatag c.*600
. . . . . . g.18727
ggaccttaaaaggattcacaaaaacttttgccacacttggtgcctaggccctgttcctaa c.*660
. . . . . . g.18787
taaccccttctagggccgtttatccaacatttagatgccttcttttccctccctaatttg c.*720
. . . . . . g.18847
tagccagtccaacctttcattccttggaggatttagttttgggataaaattttggtcctt c.*780
. . . . . . g.18907
gggcacagagacattcactattaatgaagtaacccttgggcatgactccaatcccagaat c.*840
. . . . . . g.18967
tgctcactgagcgctatgccaccgaagcgttgacctgaacatattagtgcaatccagtcc c.*900
. . . . . . g.19027
agattggacctttgatcctatgtggaagggctgttttttaagaaaaaatttttggtaaac c.*960
. . . . . . g.19087
agtattgtgtaaaattgctttttgtataccaatatatgcatgttttgtgcatgagtagta c.*1020
. . . . . . g.19147
cttgtgttgatactcctgttgatgttaaattactatataatataaacagtatgtgttttt c.*1080
. . . . . . g.19207
atatatcattgtgtaaatttaatataacatatgcagtaataaaccatttgttttactgct c.*1140
. . . . g.19254
gttaagtttgttatttgggtataaaaccagatgtttacacctgtaaa c.*1187
(downstream sequence)
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