(used for variant description)
(last modified January 21, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001242786.1 in the BRF1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029489.1, covering BRF1 transcript NM_001242786.1.
(upstream sequence)
. . . . . g.5057
aaatgagagacagcgccaaccaggtacccgcgaggacgaccccgccccgcaggacag c.-361
. . . . . . g.5117
ggcatctccaccgcgcgctggacggaggatacaaccgagtcctgcgcgccccgtgcgccg c.-301
. . . . . . g.5177
ggggtcgctcccaggccgaggtctgacagtgtcgccgaacgcgaaaggaagcgtgtggta c.-241
. . . . . . g.5237
cccgagagaggaagcaccctcgtcaccccggccggcaccgcattgaggcaggtgtgcagg c.-181
. . | 02 . . . g.34242
tgcggttgcggcgagccag | gtgctggcaaaaccccgactctgggtggcggcttccacgtg c.-121
. . . . | 03 . g.47703
aatctggggaaggagtcgagagcgcagaccctgcagaatg | ggaggcgccacatccaccac c.-61
. . . . . . g.47763
ctggggaaccagctgcagctgaaccagcactgcctggacaccgccttcaacttcttcaag c.-1
. . . . . . g.47823
ATGGCCGTGAGCAGGCACCTGACCCGCGGCCGGAAGATGGCCCACGTGATTGCTGCCTGC c.60
M A V S R H L T R G R K M A H V I A A C p.20
. . . | 04 . . . g.64054
CTCTACCTGGTCTGCCGTACGGAGGGCACGCCGC | ACATGCTCCTGGACCTCAGCGACCTG c.120
L Y L V C R T E G T P H | M L L D L S D L p.40
| 05 . . . . . . g.68052
CTCCAG | GTGAATGTGTACGTGCTTGGAAAGACGTTTCTTCTCTTGGCAAGAGAGCTCTGC c.180
L Q | V N V Y V L G K T F L L L A R E L C p.60
. | 06 . . . . g.79204
ATCAATGCGCCGGCCATAG | ACCCGTGCCTGTATATTCCACGCTTTGCGCACCTGCTGGAA c.240
I N A P A I D | P C L Y I P R F A H L L E p.80
. . . . . . g.79264
TTCGGGGAGAAGAACCACGAGGTGTCCATGACTGCCCTGAGGCTCCTACAGAGGATGAAG c.300
F G E K N H E V S M T A L R L L Q R M K p.100
. . . . | 07 . g.91675
CGGGACTGGATGCACACAGGCCGGCGCCCCTCGGGCCTCTGCGGAGCAG | CGCTCCTGGTT c.360
R D W M H T G R R P S G L C G A A | L L V p.120
. . . . . . g.91735
GCAGCCAGAATGCATGACTTCAGGAGGACTGTGAAGGAGGTCATCAGTGTGGTCAAAGTG c.420
A A R M H D F R R T V K E V I S V V K V p.140
. . | 08 . . . . g.93854
TGTGAGTCCACGCTGCGGAAGAG | GCTCACGGAATTTGAAGACACCCCCACCAGTCAGTTG c.480
C E S T L R K R | L T E F E D T P T S Q L p.160
. . . . . . g.93914
ACCATTGATGAGTTCATGAAGATCGACCTGGAGGAGGAGTGCGACCCCCCCTCGTACACA c.540
T I D E F M K I D L E E E C D P P S Y T p.180
. . . | 09 . . . g.94317
GCTGGGCAGAGGAAGCTGCGGATGAAGCAG | CTTGAACAAGTCCTGTCAAAAAAACTGGAG c.600
A G Q R K L R M K Q | L E Q V L S K K L E p.200
. | 10 . . . . . g.94466
GAGGTTGAAG | GTGAAATATCCAGTTACCAGGATGCAATTGAGATTGAACTAGAAAACAGC c.660
E V E G | E I S S Y Q D A I E I E L E N S p.220
. . . . | 11 . . g.98680
CGGCCAAAGGCCAAGGGGGGCCTGGCCAGCCTGGCAAAAGATG | GCTCCACCGAGGACACC c.720
R P K A K G G L A S L A K D G | S T E D T p.240
. . . . . . g.98740
GCGTCCAGCTTGTGTGGCGAGGAGGACACAGAGGACGAGGAGCTGGAAGCCGCGGCCAGC c.780
A S S L C G E E D T E D E E L E A A A S p.260
. . . . . . g.98800
CACCTGAACAAAGACTTATACCGGGAGCTCCTTGGTGGTGCCCCCGGCAGCTCGGAAGCA c.840
H L N K D L Y R E L L G G A P G S S E A p.280
. . . . . . g.98860
GCAGGAAGCCCCGAGTGGGGCGGCAGACCTCCGGCCCTGGGGTCCCTGCTGGACCCCCTC c.900
A G S P E W G G R P P A L G S L L D P L p.300
. . . . . . g.98920
CCCACTGCAGCCAGCCTGGGCATCTCAGACTCCATCCGCGAATGCATCTCCTCTCAGAGC c.960
P T A A S L G I S D S I R E C I S S Q S p.320
. | 12 . . . . . g.100497
AGCGACCCCA | AAGATGCTTCAGGAGACGGTGAGCTGGACCTCAGTGGCATTGATGACCTG c.1020
S D P K | D A S G D G E L D L S G I D D L p.340
. | 13 . . . . . g.101327
GAGATTGACAGG | CGCGACCTTAGCATGCCCCGGTGTGCGAAGGCTAAAAGCCAGCCCCAC c.1080
E I D R | R D L S M P R C A K A K S Q P H p.360
. . . . . . g.101387
TTCCCTGTGCTCGCCCAGTACATCCTGAATGAGTCGGAAGCCCGCGTGAAGGCCGAGCTG c.1140
F P V L A Q Y I L N E S E A R V K A E L p.380
. . . . | 14 . . g.101544
TGGATGAGGGAGAACGCCGAGTACCTGCGGGAACAGAGGG | AAAAAGAAGCAAGAATAGCG c.1200
W M R E N A E Y L R E Q R E | K E A R I A p.400
. . . | 15 . . . g.102801
AAAGAGAAGGAGCTCGGCATCTACAAGGAACACAAG | CCCAAGAAGTCTTGCAAGCGACGG c.1260
K E K E L G I Y K E H K | P K K S C K R R p.420
. . . . . . g.102861
GAGCCAATTCAGGCCAGTACCGCCAGGGAGGCCATCGAGAAGATGCTGGAGCAGAAGAAG c.1320
E P I Q A S T A R E A I E K M L E Q K K p.440
. . . . . . g.102921
ATCTCCAGCAAGATCAATTATAGCGTGCTCCGGGGCCTCAGCAGCGCCGGCGGGGGCAGT c.1380
I S S K I N Y S V L R G L S S A G G G S p.460
. . . . . . g.102981
CCGCACAGGGAGGATGCACAGCCCGAGCATAGCGCCAGTGCCAGGAAGCTGTCACGAAGG c.1440
P H R E D A Q P E H S A S A R K L S R R p.480
. . . . . | 16 . g.108420
AGGACGCCGGCCAGCAGAAGTGGGGCTGACCCTGTGACCAGTGTGGGGAAAAG | GTTGAGG c.1500
R T P A S R S G A D P V T S V G K R | L R p.500
. . . . | 17 . . g.109299
CCTCTGGTGTCTACGCAGCCAGCAAAGAAGGTGGCCACGGGAGAG | GCTTTGCTCCCAAGC c.1560
P L V S T Q P A K K V A T G E | A L L P S p.520
. . . . . . g.109359
TCTCCCACCCTCGGAGCTGAGCCTGCCAGGCCCCAGGCGGTGCTGGTGGAGAGCGGGCCC c.1620
S P T L G A E P A R P Q A V L V E S G P p.540
. . . . . . g.109419
GTGTCATACCACGCCGACGAGGAGGCTGACGAGGAGGAGCCTGACGAGGAGGACGGGGAG c.1680
V S Y H A D E E A D E E E P D E E D G E p.560
. . . | 18. . . g.110012
CCCTGCGTCAGTGCCCTGCAGATGATGGGCAGCAACG | ACTATGGCTGTGATGGCGATGAG c.1740
P C V S A L Q M M G S N D | Y G C D G D E p.580
. g.110027
GACGACGGCTACTGA c.1755
D D G Y X p.584
. . . . . . g.110087
agtgtggcctccaggcaggtgatgtcctggcagggggcctcgcgggtctcctcagcatca c.*60
. . . . . . g.110147
gacgggcttccaggaccgcagcaggcaggccccagcgccgagactcctggtgacaggtgg c.*120
. . . . . . g.110207
cacctgtcccacagccctcgtcccatgtggaacttaccattgggattgtgtttctattca c.*180
. . . . . . g.110267
gcaagggaaaccggaccaagcgtctgcatgtgtgtgatcagatgtgggccgggtgtgtgc c.*240
. . . . . . g.110327
agggctgggtcccgctgcctgccgtcgactcatccaaggaccctccaaggctggcagtgt c.*300
. . . . . . g.110387
ggtgttgctactattaaggaaacaggcttggggcagccccactgctggtccaagtgtgtg c.*360
. . . . . . g.110447
gagggctgagtgtgctggccctgtgactcaggaccagctctggagtctccagcccaccct c.*420
. . . . . . g.110507
ccgcaccgtcccctcctgagcagcactcggcgccagcagcctctgccagagtggaagcca c.*480
. . . . . . g.110567
gagccctgcaggtgtccggcgcagccgtgggagctgaggatctggcacttgagaggcagc c.*540
. . . . . . g.110627
agctccttgaaggtcctctgcctccagctgtggccctgcatccagatacctgcctcgtcc c.*600
. . . . . . g.110687
gaggcagacacccccacccctgcctcctccagacccccctccccgctgcctgcaccgcct c.*660
. . . . . . g.110747
ggagcagcatgggggtcagacccctgctccagggccacttgagttgtgggcccaggagcc c.*720
. . . . . . g.110807
ctgcggctgccggcaggtgaactgagtgcccgacagctgagaccggcgcccacccgtcct c.*780
. . . . . . g.110867
gagcatagctctgtaggcagtgcgggcatagcctgcatagtgtcctggcgctgggagttc c.*840
. . . . . . g.110927
cccgtggacagagccagagggcagtggcgctccctgtcagagctggatcaggccccccat c.*900
. . . . . . g.110987
cgaggagggagggcagacggaggcccgagagcctccccaggcctcttcgtgggaaggccc c.*960
. . . . . . g.111047
cagtaccactcgtaggaggtctcagctctggcatggctgccccggatgtggccgaggggg c.*1020
. . . . . . g.111107
cttcaccctgtgtccttaggagggggtggccttgaggcagagccgtgcctcactgacccc c.*1080
. . . . . . g.111167
caggggcctcatcctccccatggaatgggctgtatgtcctgccccaacttggcccgcagc c.*1140
. . . . . . g.111227
aggccagacccccctacccccgcccagagctcagtagccagcctgggtcctgccagggct c.*1200
. . . . . . g.111287
tctcgagggcttgggggaagaatagatttagtaaagcaggaagatctgttgttacttaac c.*1260
g.111292
agaaa c.*1265
(downstream sequence)
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