(used for variant description)
(last modified November 5, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_004959.4 in the NR5A1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008176.1, covering NR5A1 transcript NM_004959.4.
(upstream sequence)
g.5007
ggaggac c.-181
. . . . . . g.5067
ggacggacagggccagcctgctgtccggctgccgcccgccgtggtgtgagggggtttctg c.-121
. . . . . . g.5127
cgcacccacagtcgccaccgtcccacctgggctgccggagcctccccctggacccctggt c.-61
. . . . . | 02 . g.9025
gcccactgccaccctcatccggtgtgagagcgctgcttccgcttc | gcggacgccgcgggc c.-1
. . . . . . g.9085
ATGGACTATTCGTACGACGAGGACCTGGACGAGCTGTGCCCCGTGTGCGGGGACAAGGTG c.60
M D Y S Y D E D L D E L C P V C G D K V p.20
. . . . | 03 . . g.9218
TCCGGCTACCACTACGGACTGCTCACGTGTGAGAGCTGCAAG | GGCTTCTTCAAGCGCACG c.120
S G Y H Y G L L T C E S C K | G F F K R T p.40
. . . . . . g.9278
GTGCAGAACAACAAGCACTACACGTGCACCGAGAGCCAGAGCTGCAAGATCGACAAGACG c.180
V Q N N K H Y T C T E S Q S C K I D K T p.60
. . . . . . g.9338
CAGCGCAAGCGCTGTCCCTTCTGCCGCTTCCAGAAATGCCTGACGGTGGGGATGCGCCTG c.240
Q R K R C P F C R F Q K C L T V G M R L p.80
| 04 . . . . . . g.11761
GAAG | CCGTGCGCGCTGACCGTATGAGGGGTGGCCGGAACAAGTTTGGGCCGATGTACAAG c.300
E A | V R A D R M R G G R N K F G P M Y K p.100
. . . . . . g.11821
CGGGACCGGGCCCTGAAACAGCAGAAGAAGGCACAGATTCGGGCCAATGGCTTCAAGCTG c.360
R D R A L K Q Q K K A Q I R A N G F K L p.120
. . . . . . g.11881
GAGACAGGGCCCCCGATGGGGGTGCCCCCGCCGCCCCCTCCCGCACCGGACTACGTGCTG c.420
E T G P P M G V P P P P P P A P D Y V L p.140
. . . . . . g.11941
CCTCCCAGCCTGCATGGGCCTGAGCCCAAGGGCCTGGCCGCCGGTCCACCTGCTGGGCCA c.480
P P S L H G P E P K G L A A G P P A G P p.160
. . . . . . g.12001
CTGGGCGACTTTGGGGCCCCAGCACTGCCCATGGCCGTGCCCGGTGCCCACGGGCCACTG c.540
L G D F G A P A L P M A V P G A H G P L p.180
. . . . . . g.12061
GCTGGCTACCTCTACCCTGCCTTTCCTGGCCGTGCCATCAAGTCTGAGTACCCGGAGCCT c.600
A G Y L Y P A F P G R A I K S E Y P E P p.200
. . . . . . g.12121
TATGCCAGCCCCCCACAGCCTGGGCTGCCGTACGGCTACCCAGAGCCCTTCTCTGGAGGG c.660
Y A S P P Q P G L P Y G Y P E P F S G G p.220
. . . . . . g.12181
CCCAACGTGCCTGAGCTCATCCTGCAGCTGCTGCAGCTGGAGCCGGATGAGGACCAGGTG c.720
P N V P E L I L Q L L Q L E P D E D Q V p.240
. . . . . . g.12241
CGGGCCCGCATCTTGGGCTGCCTGCAGGAGCCCACCAAAAGCCGCCCCGACCAGCCGGCG c.780
R A R I L G C L Q E P T K S R P D Q P A p.260
. . . . . . g.12301
GCCTTCGGCCTCCTGTGCAGAATGGCCGACCAGACCTTCATCTCCATCGTGGACTGGGCA c.840
A F G L L C R M A D Q T F I S I V D W A p.280
. . . | 05 . . . g.19301
CGCAGGTGCATGGTCTTCAAGGAGCTGGAG | GTGGCCGACCAGATGACGCTGCTGCAGAAC c.900
R R C M V F K E L E | V A D Q M T L L Q N p.300
. . . . . . g.19361
TGCTGGAGCGAGCTGCTGGTGTTCGACCACATCTACCGCCAGGTCCAGCACGGCAAGGAG c.960
C W S E L L V F D H I Y R Q V Q H G K E p.320
. . . | 06 . . . g.21222
GGCAGCATCCTGCTGGTCACCGGGCAGGAG | GTGGAGCTGACCACAGTGGCCACCCAGGCG c.1020
G S I L L V T G Q E | V E L T T V A T Q A p.340
. . . . . . g.21282
GGCTCGCTGCTGCACAGCCTGGTGTTGCGGGCGCAGGAGCTGGTGCTGCAGCTGCTTGCG c.1080
G S L L H S L V L R A Q E L V L Q L L A p.360
. . . . . | 07 g.29417
CTGCAGCTGGACCGGCAGGAGTTTGTCTGCCTCAAGTTCATCATCCTCTTCAGCCTGG | AT c.1140
L Q L D R Q E F V C L K F I I L F S L D | p.380
. . . . . . g.29477
TTGAAGTTCCTGAATAACCACATCCTGGTGAAAGACGCTCAGGAGAAGGCCAACGCCGCC c.1200
L K F L N N H I L V K D A Q E K A N A A p.400
. . . . . . g.29537
CTGCTTGACTACACCCTGTGCCACTACCCGCACTGCGGGGACAAATTCCAGCAGCTGCTG c.1260
L L D Y T L C H Y P H C G D K F Q Q L L p.420
. . . . . . g.29597
CTGTGCCTGGTGGAGGTGCGGGCCCTGAGCATGCAGGCCAAGGAGTACCTGTACCACAAG c.1320
L C L V E V R A L S M Q A K E Y L Y H K p.440
. . . . . . g.29657
CACCTGGGCAACGAGATGCCCCGCAACAACCTGCTCATCGAAATGCTGCAAGCCAAGCAG c.1380
H L G N E M P R N N L L I E M L Q A K Q p.460
g.29663
ACTTGA c.1386
T X p.461
. . . . . . g.29723
gcctgggccgggggcggggccgggactgggggcgggactgggggcggggcctgggcgggg c.*60
. . . . . . g.29783
ccgcagccacaccgctggctccgcatggttcattttctgatgcccaccgaggagccccag c.*120
. . . . . . g.29843
ccccgtcccagaggccgctgcccctgagttctgacactgtgtgtttgggaaggtgggtga c.*180
. . . . . . g.29903
ggctgggcagggcctggcggaggtggagtggccactggcacttgcctgctgcttggagtg c.*240
. . . . . . g.29963
ccccaaggaggtggctgttaaccacccgccccgccccctccctgctcccagctctctctc c.*300
. . . . . . g.30023
ctggagtctgaagcctgcaggtccggggaggaggttcgggattccctggtgggcctcgac c.*360
. . . . . . g.30083
gtcccttggatcagaggtcatcccttcctcctctcctggaaacagacagggagaagttga c.*420
. . . . . . g.30143
gcaggtatcaactaggggaggagagagggtctccagtgttccccccatagagaccaggag c.*480
. . . . . . g.30203
ggagagcctctgttttgtaaactaaggataaccgagtttgctaaattgagaggggctatt c.*540
. . . . . . g.30263
gggccctagaggacactaggagactggttaggacaaaaagaccttctccctagcccttct c.*600
. . . . . . g.30323
accccacctgacctctgcaagagggggcattgatacatcatcgggaaaaaactttgctcc c.*660
. . . . . . g.30383
aggcatcactgattccctctcccacccaaggagaacgtttggtacaatcgacatcctagc c.*720
. . . . . . g.30443
cccacccagaggtggccctcccaggctggtatttatctgcaaggttgtagtcaagaggtt c.*780
. . . . . . g.30503
tttctccccgctttttgtttttaagcttctagacactccttgaaatgtgtgtgtgatgga c.*840
. . . . . . g.30563
gggaaggggacagatttgaggactgaagctggggcttggggattgccactaagtacagct c.*900
. . . . . . g.30623
gacggtttctccccggacactcgcctactaagtacccttggggtggtgctgggtcattac c.*960
. . . . . . g.30683
ttctgagccccagccccaatccagagaagcgctgttgcccgccctccacccactaggtga c.*1020
. . . . . . g.30743
acagcaggatgccctgttgggggcttcaggtctctgtgggtgggaatgcaagtgaacttg c.*1080
. . . . . . g.30803
ggagggggcacgggcctgtagatcagggatagcgctgttgatcccctctctgtggctcca c.*1140
. . . . . . g.30863
acccgttgggtcccttgctgcaaacccatgaagctggccctcagctccctgaccccctgt c.*1200
. . . . . . g.30923
cctaggtcatgaaggacactctgcagggtgaagcaccagggagaggcctcggctgtctcc c.*1260
. . . . . . g.30983
tgtccccggcggggtgcctgctgtccgtcccgctttcatgttactgttgcagcttgtgct c.*1320
. . . . . . g.31043
gagcctgcccagttggaggagactgggcacccctgcctcctgcctcccgcctcccgccac c.*1380
. . . . . . g.31103
cctgtctcagtacctcccctccccgccccctgaaacatgtgcccctgccaaggccggaga c.*1440
. . . . . . g.31163
cccacagccctgaaacgagaagtgcccttaaggatcaccccagcccccacagccctggaa c.*1500
. . g.31185
taaatttcgcaattagtttcca c.*1522
(downstream sequence)
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