(used for variant description)
(last modified January 23, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_002052.3 in the GATA4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008177.1, covering GATA4 transcript NM_002052.3.
(upstream sequence)
. g.5014
ttggaggcggccgg c.-541
. . . . . . g.5074
cgcaggggccgcgagaggcttcgtcgccgctgcagctccgggggctcccaggggagcgtg c.-481
. . . | 02 . . . g.8685
cgcggaacctccaggcccagcag | gaccccggctgcggcgaggaggaaggagccagcctag c.-421
. . . . . . g.8745
cagcttctgcgcctgtggccgcgggtgtcctggaggcctctcggtgtgacgagtggggga c.-361
. . . . . . g.8805
cccgaaggctcgtgcgccacctccaggcctggacgctgccctccgtcttctgcccccaat c.-301
. . . . . . g.8865
aggtgcgccggaccttcaggccctggggtgaattcagctgctcctacatcagcttccgga c.-241
. . . . . . g.8925
accaccaaaaattcaaattgggattttccggagtaaacaagagcctagagccctttgctc c.-181
. . . . . . g.8985
aatgctggatttaatacgtatatatttttaagcgagttggttttttcccctttgattttt c.-121
. . . . . . g.9045
gatcttcgcgacagttcctcccacgcatattatcgttgttgccgtcgttttctctccccg c.-61
. . . . . . g.9105
cgtggctccttgacctgcgagggagagagaggacaccgaagccgggagctcgcagggacc c.-1
. . . . . . g.9165
ATGTATCAGAGCTTGGCCATGGCCGCCAACCACGGGCCGCCCCCCGGTGCCTACGAGGCG c.60
M Y Q S L A M A A N H G P P P G A Y E A p.20
. . . . . . g.9225
GGCGGCCCCGGCGCCTTCATGCACGGCGCGGGCGCCGCGTCCTCGCCAGTCTACGTGCCC c.120
G G P G A F M H G A G A A S S P V Y V P p.40
. . . . . . g.9285
ACACCGCGGGTGCCCTCCTCCGTGCTGGGCCTGTCCTACCTCCAGGGCGGAGGCGCGGGC c.180
T P R V P S S V L G L S Y L Q G G G A G p.60
. . . . . . g.9345
TCTGCGTCCGGAGGCGCCTCGGGCGGCAGCTCCGGTGGGGCCGCGTCTGGTGCGGGGCCC c.240
S A S G G A S G G S S G G A A S G A G P p.80
. . . . . . g.9405
GGGACCCAGCAGGGCAGCCCGGGATGGAGCCAGGCGGGAGCCGACGGAGCCGCTTACACC c.300
G T Q Q G S P G W S Q A G A D G A A Y T p.100
. . . . . . g.9465
CCGCCGCCGGTGTCGCCGCGCTTCTCCTTCCCGGGGACCACCGGGTCCCTGGCGGCCGCC c.360
P P P V S P R F S F P G T T G S L A A A p.120
. . . . . . g.9525
GCCGCCGCTGCCGCGGCCCGGGAAGCTGCGGCCTACAGCAGTGGCGGCGGAGCGGCGGGT c.420
A A A A A A R E A A A Y S S G G G A A G p.140
. . . . . . g.9585
GCGGGCCTGGCGGGCCGCGAGCAGTACGGGCGCGCCGGCTTCGCGGGCTCCTACTCCAGC c.480
A G L A G R E Q Y G R A G F A G S Y S S p.160
. . . . . . g.9645
CCCTACCCGGCTTACATGGCCGACGTGGGCGCGTCCTGGGCCGCAGCCGCCGCCGCCTCC c.540
P Y P A Y M A D V G A S W A A A A A A S p.180
. . . . . . g.9705
GCCGGCCCCTTCGACAGCCCGGTCCTGCACAGCCTGCCCGGCCGGGCCAACCCGGCCGCC c.600
A G P F D S P V L H S L P G R A N P A A p.200
. | 03 . . . . . g.49755
CGACACCCCAATCTCG | ATATGTTTGACGACTTCTCAGAAGGCAGAGAGTGTGTCAACTGT c.660
R H P N L D | M F D D F S E G R E C V N C p.220
. . . . . . g.49815
GGGGCTATGTCCACCCCGCTCTGGAGGCGAGATGGGACGGGTCACTATCTGTGCAACGCC c.720
G A M S T P L W R R D G T G H Y L C N A p.240
. . . . . . g.49875
TGCGGCCTCTACCACAAGATGAACGGCATCAACCGGCCGCTCATCAAGCCTCAGCGCCGG c.780
C G L Y H K M N G I N R P L I K P Q R R p.260
| 04 . . . . . . g.50960
CTG | TCCGCCTCCCGCCGAGTGGGCCTCTCCTGTGCCAACTGCCAGACCACCACCACCACG c.840
L | S A S R R V G L S C A N C Q T T T T T p.280
. . . . . . g.51020
CTGTGGCGCCGCAATGCGGAGGGCGAGCCTGTGTGCAATGCCTGCGGCCTCTACATGAAG c.900
L W R R N A E G E P V C N A C G L Y M K p.300
| 05 . . . . . g.55889
CTCCACGGG | GTCCCCAGGCCTCTTGCAATGCGGAAAGAGGGGATCCAAACCAGAAAACGG c.960
L H G | V P R P L A M R K E G I Q T R K R p.320
. . . | 06. . . g.57750
AAGCCCAAGAACCTGAATAAATCTAAGACACCAGCAG | CTCCTTCAGGCAGTGAGAGCCTT c.1020
K P K N L N K S K T P A A | P S G S E S L p.340
. . . . . . g.57810
CCTCCCGCCAGCGGTGCTTCCAGCAACTCCAGCAACGCCACCACCAGCAGCAGCGAGGAG c.1080
P P A S G A S S N S S N A T T S S S E E p.360
. . . . . . g.57870
ATGCGTCCCATCAAGACGGAGCCTGGCCTGTCATCTCACTACGGGCACAGCAGCTCCGTG c.1140
M R P I K T E P G L S S H Y G H S S S V p.380
| 07 . . . . . . g.59139
TCCCAG | ACGTTCTCAGTCAGTGCGATGTCTGGCCATGGGCCCTCCATCCACCCTGTCCTC c.1200
S Q | T F S V S A M S G H G P S I H P V L p.400
. . . . . . g.59199
TCGGCCCTGAAGCTCTCCCCACAAGGCTATGCGTCTCCCGTCAGCCAGTCTCCACAGACC c.1260
S A L K L S P Q G Y A S P V S Q S P Q T p.420
. . . . . . g.59259
AGCTCCAAGCAGGACTCTTGGAACAGCCTGGTCTTGGCCGACAGTCACGGGGACATAATC c.1320
S S K Q D S W N S L V L A D S H G D I I p.440
g.59268
ACTGCGTAA c.1329
T A X p.442
. . . . . . g.59328
tcttccctcttccctcctcaaattcctgcacggacctgggacttggaggatagcaaagaa c.*60
. . . . . . g.59388
ggaggccctgggctcccaggggccggcctcctctgcctggtaatgactccagaacaacaa c.*120
. . . . . . g.59448
ctgggaagaaacttgaagtcgacaatctggttaggggaagcgggtgttggattttctcag c.*180
. . . . . . g.59508
atgcctttacacgctgatgggactggagggagcccacccttcagcacgagcacactgcat c.*240
. . . . . . g.59568
ctctcctgtgagttggagacttctttcccaagatgtccttgtcccctgcgttccccactg c.*300
. . . . . . g.59628
tggcctagaccgtgggttttgcattgtgtttctagcaccgaggatctgagaacaagcgga c.*360
. . . . . . g.59688
gggccgggccctgggacccctgctccagcccgaatgacggcatctgtttgccatgtacct c.*420
. . . . . . g.59748
ggatgcgacgggcccctggggacaggcccttgccccatccatccgcttgaggcatggcac c.*480
. . . . . . g.59808
cgccctgcatccctaataccaaatctgactccaaaattgtggggtgtgacatacaagtga c.*540
. . . . . . g.59868
ctgaacacttcctggggagctacaggggcacttaacccaccacagcacagcctcatcaaa c.*600
. . . . . . g.59928
atgcagctggcaacttctcccccaggtgccttccccctgctgccggcctttgctccttca c.*660
. . . . . . g.59988
cttccaacatctctcaaaataaaaatccctcttcccgctctgagcgattcagctctgccc c.*720
. . . . . . g.60048
gcagcttgtacatgtctctcccctggcaaaacaagagctgggtagtttagccaaacggca c.*780
. . . . . . g.60108
ccccctcgagttcactgcagacccttcgttcaccgtgtcacacatagaggggttctgagt c.*840
. . . . . . g.60168
aagaacaaaacgttctgctgctcaagccagtctggcaagcactcagcccagcctcgaggt c.*900
. . . . . . g.60228
ccttctggggagagtgtaagtggacagagtcctggtcagggggcaggagtgtcccaaggg c.*960
. . . . . . g.60288
ctggcccacctgctgtctgtctgctcctcctagcccttggtcagatggcagccagagtcc c.*1020
. . . . . . g.60348
ctcaggacctgcagcctcgccccggcagaagtcttttgtccaggaggcaaaaagccagag c.*1080
. . . . . . g.60408
attctgcaacacgaattcgaagcaaacaaacacaacacaacagaattcctggaaagaaga c.*1140
. . . . . . g.60468
cgactgctaagacacggcaggggggcctggagggagcctccgactctgagctgctccggg c.*1200
. . . . . . g.60528
atctgccgcgttctcctctgcacattgctgtttctgcccctgatgctggagctcaaggag c.*1260
. . . . . . g.60588
actccttcctctttctcagcagagctgtagctgactgtggcattactacgcctccccaca c.*1320
. . . . . . g.60648
cgcccagacccctcactccaaaatcctactggctgtagcagagaatacctttgaaccaag c.*1380
. . . . . . g.60708
attctgttttaatcatcatttacattgttttcttccaaaggccccctcgtataccctccc c.*1440
. . . . . . g.60768
taacccacaaacctgttaacattgtcttaaggtgaaatggctggaaaatcagtatttaac c.*1500
. . g.60793
taataaatttatctgtattcctctt c.*1525
(downstream sequence)
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