(used for variant description)
(last modified May 30, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_001206977.1 in the NR1H4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029843.1, covering NR1H4 transcript NM_001206977.1.
(upstream sequence)
. . . . g.5043
tctatgtttatatcatttagcagggaaggattgttaatgacta c.-601
. . . . . . g.5103
atctgtgtccatgaggcacagagccaaggaagagatgctgctgctagcccagaaggccgc c.-541
. . . . . . g.5163
ctgtgatcatgcacagtacactggaactctctcctcctcctcacctcattgtctccccga c.-481
. . . . . . g.5223
cttatcctaatgcgaaattggattctgagcatttgtagcaaaatcgctgggatctggaga c.-421
. . . . . . g.5283
ggaagactcagtccagaatcctcccagggccttgaaagtccatctctgacccaaaacaat c.-361
. | 02 . . . . . g.22099
ccaa | actttagctctgtcgtccaggctggaatgcagtggcatgatcagagttcactgcag c.-301
. . . . . . g.22159
cctcgacctcccaggctcaagtgatcctcctgcttcaacttcccaagtagcttggctggg c.-241
. . . . . . | 03 g.23739
actacaggtgtgcatcaccatgcccagctaatttttaaatttttattagag | ggaggtaga c.-181
. . . . . . g.23799
agacatcgtagaaggagtgaaagaagaaaagaagacttagaaacatagctcaaagtgaac c.-121
. . . . . . g.23859
actgcttctcttagtttcctggatttcttctggacatttcctcaagatgaaacttcagac c.-61
. | 04 . . . . . g.24551
actttg | gagttttttttgaagaccaccataaagaaagtgcatttcaattgaaaaatttgg c.-1
. . . . . . g.24611
ATGGGATCAAAAATGAATCTCATTGAACATTCCCATTTACCTACCACAGATGAATTTTCT c.60
M G S K M N L I E H S H L P T T D E F S p.20
. | 05 . . . . g.42046
TTTTCTGAAAATTTATTTG | GTGTTTTAACAGAACAAGTGGCAGGTCCTCTGGGACAGAAC c.120
F S E N L F G | V L T E Q V A G P L G Q N p.40
. . . . . . g.42106
CTGGAAGTGGAACCATACTCGCAATACAGCAATGTTCAGTTTCCCCAAGTTCAACCACAG c.180
L E V E P Y S Q Y S N V Q F P Q V Q P Q p.60
. . . . . . g.42166
ATTTCCTCGTCATCCTATTATTCCAACCTGGGTTTCTACCCCCAGCAGCCTGAAGAGTGG c.240
I S S S S Y Y S N L G F Y P Q Q P E E W p.80
. . . . . . g.42226
TACTCTCCTGGAATATATGAACTCAGGCGTATGCCAGCTGAGACTCTCTACCAGGGAGAA c.300
Y S P G I Y E L R R M P A E T L Y Q G E p.100
. . . . . . g.42286
ACTGAGGTAGCAGAGATGCCTGTAACAAAGAAGCCCCGCATGGGCGCGTCAGCAGGGAGG c.360
T E V A E M P V T K K P R M G A S A G R p.120
. . . . . . g.42346
ATCAAAGGGGATGAGCTGTGTGTTGTTTGTGGAGACAGAGCCTCTGGATACCACTATAAT c.420
I K G D E L C V V C G D R A S G Y H Y N p.140
. . | 06 . . . . g.63720
GCACTGACCTGTGAGGGGTGTAAAG | GTTTCTTCAGGAGAAGCATTACCAAAAACGCTGTG c.480
A L T C E G C K G | F F R R S I T K N A V p.160
. . . . . . g.63780
TACAAGTGTAAAAACGGGGGCAACTGTGTGATGGATATGTACATGCGAAGAAAGTGTCAA c.540
Y K C K N G G N C V M D M Y M R R K C Q p.180
. . . . . | 07 g.66119
GAGTGTCGACTAAGGAAATGCAAAGAGATGGGAATGTTGGCTGAATGTATGTATACAG | GC c.600
E C R L R K C K E M G M L A E C M Y T G | p.200
. . . . . . g.66179
TTGTTAACTGAAATTCAGTGTAAATCTAAGCGACTGAGAAAAAATGTGAAGCAGCATGCA c.660
L L T E I Q C K S K R L R K N V K Q H A p.220
. . . . . . g.66239
GATCAGACCGTGAATGAAGACAGTGAAGGTCGTGACTTGCGACAAGTGACCTCGACAACA c.720
D Q T V N E D S E G R D L R Q V T S T T p.240
. | 08 . . . . . g.67787
AAGTCATGCAGG | GAGAAAACTGAACTCACCCCAGATCAACAGACTCTTCTACATTTTATT c.780
K S C R | E K T E L T P D Q Q T L L H F I p.260
. . . . . | 09 . g.68184
ATGGATTCATATAACAAACAGAGGATGCCTCAGGAAATAACAAATAAAATT | TTAAAAGAA c.840
M D S Y N K Q R M P Q E I T N K I | L K E p.280
. . . . . . g.68244
GAATTCAGTGCAGAAGAAAATTTTCTCATTTTGACGGAAATGGCAACCAATCATGTACAG c.900
E F S A E E N F L I L T E M A T N H V Q p.300
. . . | 10 . . . g.71928
GTTCTTGTAGAATTCACAAAAAAGCTACCAG | GATTTCAGACTTTGGACCATGAAGACCAG c.960
V L V E F T K K L P G | F Q T L D H E D Q p.320
. . . . . . g.71988
ATTGCTTTGCTGAAAGGGTCTGCGGTTGAAGCTATGTTCCTTCGTTCAGCTGAGATTTTC c.1020
I A L L K G S A V E A M F L R S A E I F p.340
. . . . . | 11 g.93114
AATAAGAAACTTCCGTCTGGGCATTCTGACCTATTGGAAGAAAGAATTCGAAATAGTG | GT c.1080
N K K L P S G H S D L L E E R I R N S G | p.360
. . . . . . g.93174
ATCTCTGATGAATATATAACACCTATGTTTAGTTTTTATAAAAGTATTGGGGAACTGAAA c.1140
I S D E Y I T P M F S F Y K S I G E L K p.380
. . . . . | 12 . g.94486
ATGACTCAAGAGGAGTATGCTCTGCTTACAGCAATTGTTATCCTGTCTCCAG | ATAGACAA c.1200
M T Q E E Y A L L T A I V I L S P D | R Q p.400
. . . . . . g.94546
TACATAAAGGATAGAGAGGCAGTAGAGAAGCTTCAGGAGCCACTTCTTGATGTGCTACAA c.1260
Y I K D R E A V E K L Q E P L L D V L Q p.420
. . . . . . g.94606
AAGTTGTGTAAGATTCACCAGCCTGAAAATCCTCAACACTTTGCCTGTCTCCTGGGTCGC c.1320
K L C K I H Q P E N P Q H F A C L L G R p.440
. . . . . . g.94666
CTGACTGAATTACGGACATTCAATCATCACCACGCTGAGATGCTGATGTCATGGAGAGTA c.1380
L T E L R T F N H H H A E M L M S W R V p.460
. . . . . g.94717
AACGACCACAAGTTTACCCCACTTCTCTGTGAAATCTGGGACGTGCAGTGA c.1431
N D H K F T P L L C E I W D V Q X p.476
. . . . . . g.94777
tggggattacaggggaggggtctagctcctttttctctctcatattaatctgatgtataa c.*60
. . . . . . g.94837
ctttcctttatttcacttgtacccagtttcactcaagaaatcttgatgaatatttatgtt c.*120
. . . . . . g.94897
gtaattacatgtgtaacttccacaactgtaaatattgggctagatagaacaactttctct c.*180
. . . . . . g.94957
acattgtgttttaaaaggctccagggaatcctgcattctaattggcaagccctgtttgcc c.*240
. . . . . . g.95017
taattaaattgattgttacttcaattctatctgttgaactagggaaaatctcattttgct c.*300
. . . . . . g.95077
catcttaccatattgcatatattttattaaagagttgtattcaatcttggcaataaagca c.*360
. g.95095
aacataatggcaacagga c.*378
(downstream sequence)
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