(used for variant description)
(last modified November 11, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_175875.4 in the SIX5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012745.1, covering SIX5 transcript NM_175875.4.
(upstream sequence)
. . . g.5035
gagacggaggcgtgcagaagctcagtctcggggcg c.-361
. . . . . . g.5095
gaggcttcgcgcccttagtcctcctggacggcccgttaccttctgcgttgtcccgatggg c.-301
. . . . . . g.5155
gaaactgaggccctgagccagaagcacacgctggggggaggcagaaagcgcggccagagg c.-241
. . . . . . g.5215
cggagggaaaacaaagggagaatcacagacagacgggagggggacggacacacacaaggg c.-181
. . . . . . g.5275
gacagagacccgagtggagagctggatctcgccttcccggcgtggggcgcagggtcggcc c.-121
. . . . . . g.5335
agaaagaagatcgagaagagcggggagtgggggcgaaaaggggggacaggtgggggagga c.-61
. . . . . . g.5395
ggctggggaaagcccgagggaggaagagagggagggaggaacttcccaaagttgcaaaac c.-1
. . . . . . g.5455
ATGGCTACCTTGCCTGCGGAGCCGAGCGCGGGGCCGGCGGCTGGGGGGGAGGCGGTGGCG c.60
M A T L P A E P S A G P A A G G E A V A p.20
. . . . . . g.5515
GCGGCGGCGGCGACCGAAGAGGAGGAGGAGGAAGCGCGCCAGCTCTTGCAGACTTTGCAG c.120
A A A A T E E E E E E A R Q L L Q T L Q p.40
. . . . . . g.5575
GCGGCCGAGGGTGAGGCGGCGGCGGCGGCCGGGGCCGGGGCGGGCGCAGCGGCTGCGGGA c.180
A A E G E A A A A A G A G A G A A A A G p.60
. . . . . . g.5635
GCTGAGGGCCCGGGATCCCCGGGCGTCCCCGGGTCGCCCCCCGAGGCCGCTTCCGAACCG c.240
A E G P G S P G V P G S P P E A A S E P p.80
. . . . . . g.5695
CCCACGGGCCTCCGCTTCTCGCCCGAGCAGGTGGCGTGCGTCTGCGAGGCGCTGCTCCAG c.300
P T G L R F S P E Q V A C V C E A L L Q p.100
. . . . . . g.5755
GCGGGCCACGCCGGCCGCTTGAGCCGCTTCCTGGGCGCACTGCCCCCGGCCGAGCGCCTA c.360
A G H A G R L S R F L G A L P P A E R L p.120
. . . . . . g.5815
CGTGGCAGCGACCCGGTGTTGCGCGCGCGGGCCCTGGTGGCCTTCCAGCGGGGCGAGTAC c.420
R G S D P V L R A R A L V A F Q R G E Y p.140
. . . . . . g.5875
GCCGAGCTCTACCGGCTACTCGAGAGCCGCCCCTTCCCCGCCGCCCACCACGCCTTCCTG c.480
A E L Y R L L E S R P F P A A H H A F L p.160
. . . . . . g.5935
CAGGACCTCTACCTGCGCGCGCGCTACCATGAGGCCGAGCGGGCCCGCGGCCGCGCGCTT c.540
Q D L Y L R A R Y H E A E R A R G R A L p.180
. . . . . . g.5995
GGCGCAGTGGACAAGTATCGACTGCGCAAGAAGTTCCCGCTGCCCAAGACCATCTGGGAC c.600
G A V D K Y R L R K K F P L P K T I W D p.200
. . . . . . g.6055
GGCGAGGAGACAGTCTACTGCTTCAAGGAGCGCTCCCGCGCAGCGCTCAAGGCCTGCTAC c.660
G E E T V Y C F K E R S R A A L K A C Y p.220
. . . . . . g.6115
CGCGGCAACCGCTACCCCACGCCGGACGAGAAGCGCCGCCTGGCCACACTCACCGGCCTG c.720
R G N R Y P T P D E K R R L A T L T G L p.240
. . . . . . g.6175
TCGCTCACGCAGGTCAGCAACTGGTTCAAGAACCGGCGACAGCGCGACCGGACCGGGGCC c.780
S L T Q V S N W F K N R R Q R D R T G A p.260
. . | 02 . . . . g.7121
GGAGGCGGCGCGCCCTGCAAGAG | CGAGTCTGATGGGAATCCCACGACTGAGGACGAGTCC c.840
G G G A P C K S | E S D G N P T T E D E S p.280
. . . . . . g.7181
AGCCGAAGTCCTGAGGACCTGGAGAGAGGGGCGGCCCCAGTGTCCGCCGAGGCCGCTGCC c.900
S R S P E D L E R G A A P V S A E A A A p.300
. . . . . . g.7241
CAGGGCTCCATATTCCTGGCAGGGACCGGCCCTCCCGCGCCTTGCCCGGCTTCCTCCTCC c.960
Q G S I F L A G T G P P A P C P A S S S p.320
. . . . . . g.7301
ATCCTGGTGAACGGGAGCTTCCTGGCAGCCAGCGGCTCCCCAGCAGTGCTCCTCAACGGG c.1020
I L V N G S F L A A S G S P A V L L N G p.340
. . . . . . g.7361
GGCCCCGTCATCATCAACGGCCTGGCCCTGGGCGAGGCCTCCAGCCTGGGCCCGCTGCTG c.1080
G P V I I N G L A L G E A S S L G P L L p.360
. . . . . . g.7421
CTCACTGGGGGCGGGGGTGCCCCTCCACCGCAGCCCAGCCCTCAGGGGGCCAGCGAGACC c.1140
L T G G G G A P P P Q P S P Q G A S E T p.380
. . . . . . g.7481
AAGACCTCTCTGGTCCTGGACCCTCAGACAGGGGAGGTGCGGCTGGAGGAGGCTCAGTCG c.1200
K T S L V L D P Q T G E V R L E E A Q S p.400
. . . . . . g.7541
GAGGCCCCTGAGACCAAAGGGGCCCAGGTGGCTGCTCCGGGACCAGCCCTTGGAGAGGAG c.1260
E A P E T K G A Q V A A P G P A L G E E p.420
. . . . . . g.7601
GTCCTGGGGCCCCTGGCCCAAGTGGTGCCTGGCCCCCCGACGGCTGCCACCTTTCCTCTG c.1320
V L G P L A Q V V P G P P T A A T F P L p.440
. . . . . . g.7661
CCCCCGGGGCCAGTGCCTGCTGTGGCTGCCCCACAAGTGGTACCGCTCTCCCCACCCCCG c.1380
P P G P V P A V A A P Q V V P L S P P P p.460
. . . . . . g.7721
GGGTATCCCACGGGCCTGAGCCCCACCTCCCCACTATTGAACCTGCCCCAGGTAGTACCC c.1440
G Y P T G L S P T S P L L N L P Q V V P p.480
. . . . . . g.7781
ACCTCACAGGTGGTGACCCTGCCCCAGGCTGTGGGGCCCCTGCAGCTGTTGGCAGCCGGG c.1500
T S Q V V T L P Q A V G P L Q L L A A G p.500
. . . . . . g.7841
CCAGGCAGCCCTGTGAAGGTGGCAGCTGCAGCAGGCCCTGCCAATGTGCACCTCATCAAC c.1560
P G S P V K V A A A A G P A N V H L I N p.520
. . . . | 03 . g.8139
TCCGGGGTGGGCGTGACTGCCCTGCAGCTGCCTTCGGCCACTGCCCCAG | GAAACTTCCTC c.1620
S G V G V T A L Q L P S A T A P G | N F L p.540
. . . . . . g.8199
CTGGCCAACCCTGTGTCTGGCAGCCCCATCGTGACGGGTGTGGCCGTGCAGCAGGGCAAG c.1680
L A N P V S G S P I V T G V A V Q Q G K p.560
. . . . . . g.8259
ATCATCCTCACCGCCACCTTCCCCACCAGCATGCTCGTCTCCCAGGTCCTGCCGCCAGCC c.1740
I I L T A T F P T S M L V S Q V L P P A p.580
. . . . . . g.8319
CCCGGCCTGGCCCTGCCACTGAAGCCAGAGACGGCCATCTCCGTGCCTGAGGGAGGCCTC c.1800
P G L A L P L K P E T A I S V P E G G L p.600
. . . . . . g.8379
CCGGTGGCCCCCAGCCCTGCTCTCCCAGAGGCTCACGCCCTAGGCACCCTTTCTGCACAG c.1860
P V A P S P A L P E A H A L G T L S A Q p.620
. . . . . . g.8439
CAGCCACCCCCCGCCGCTGCCACCACCTCCAGCACCAGCCTGCCCTTCTCCCCTGACTCC c.1920
Q P P P A A A T T S S T S L P F S P D S p.640
. . . . . . g.8499
CCTGGCCTCCTGCCCAACTTCCCGGCGCCCCCACCAGAGGGGCTGATGTTGTCACCCGCG c.1980
P G L L P N F P A P P P E G L M L S P A p.660
. . . . . . g.8559
GCCGTGCCTGTCTGGTCAGCAGGGCTGGAACTAAGCGCAGGAACAGAGGGGCTGCTGGAA c.2040
A V P V W S A G L E L S A G T E G L L E p.680
. . . . . . g.8619
GCGGAAAAGGGGCTGGGGACACAGGCCCCCCACACCGTGCTGAGGCTGCCAGACCCCGAC c.2100
A E K G L G T Q A P H T V L R L P D P D p.700
. . . . . . g.8679
CCTGAGGGGCTGCTCCTGGGGGCCACCGCAGGGGGTGAGGTTGACGAGGGGTTGGAAGCT c.2160
P E G L L L G A T A G G E V D E G L E A p.720
. . . . . . g.8739
GAGGCCAAGGTTCTGACCCAGCTCCAGTCGGTGCCTGTGGAGGAGCCCTTGGAACTGTGA c.2220
E A K V L T Q L Q S V P V E E P L E L X p.739
. . . . . . g.8799
cccagtgtggccccgtggcctctcccgacattggtgctgaagacgcagggacaggaatgg c.*60
. . . . . . g.8859
gaggggggagccccagaaatgcggttgctgaagaccccagtcaccacatccttctgcctg c.*120
. . . . . . g.8919
ggtggcctctccaagccctggtggtgctgggggttgtatccccggccacctcctgtccag c.*180
. . . . . . g.8979
gtctccatccccctttggatgggaggcctctctgttacagccctccccatgctgtgccct c.*240
. . . . . . g.9039
gccatatacgtgggggactcagggtcctgactcaggggccctgccccctccacttggtac c.*300
. . . . . . g.9099
tagctgtaagcggaacaccctgccccagggccggacttccagcccccagagccctctccc c.*360
. . . . . . g.9159
tgtcactccctgaaacactattaatagctctgccgatagctggtgttgtcacaactgcct c.*420
. . . . . . g.9219
ggaatccgaaggtggaggacaggcagccccgcgcccctgagactggagaccctccccagt c.*480
. . . . . . g.9279
gtggcatttcctgccaggggcggggggtggggcagctgtggggagacgggggtcttcctt c.*540
. . . . . . g.9339
caccagctcccctcgactcaagcccttgtcctcattatccggcccagaccaaagattccc c.*600
. . . . . . g.9399
tcatccctgggggcagccctgccgctgtgtctcctttgtatcctaaatctttatttttct c.*660
. . . . . g.9455
aggacatgttatgcctccattttcaattaaaataaagttatcggattacaccacca c.*716
(downstream sequence)
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