(used for variant description)
(last modified February 9, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_058243.2 in the BRD4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering BRD4 transcript NM_058243.2.
(upstream sequence)
. . . . g.5042
attctttggaatactactgctagaagtctgacttaagaccca c.-181
. . . . . . g.5102
gcttatgggccacatggcacccagctgcttctgcagagaaggcaggccactgatgggtac c.-121
. . . . . . g.5162
agcaaagtgtggtgctgctggccaagccaaagacccgtgtaggatgactgggcctctgcc c.-61
. . . | 02 . . . g.12352
ccttgtgggtgttgccactgtgcttg | agtgcctggtgaagaatgtgatgggatcactagc c.-1
. . . . . . g.12412
ATGTCTGCGGAGAGCGGCCCTGGGACGAGATTGAGAAATCTGCCAGTAATGGGGGATGGA c.60
M S A E S G P G T R L R N L P V M G D G p.20
. . . . . . g.12472
CTAGAAACTTCCCAAATGTCTACAACACAGGCCCAGGCCCAACCCCAGCCAGCCAACGCA c.120
L E T S Q M S T T Q A Q A Q P Q P A N A p.40
. . . . . . g.12532
GCCAGCACCAACCCCCCGCCCCCAGAGACCTCCAACCCTAACAAGCCCAAGAGGCAGACC c.180
A S T N P P P P E T S N P N K P K R Q T p.60
. . . . . . g.12592
AACCAACTGCAATACCTGCTCAGAGTGGTGCTCAAGACACTATGGAAACACCAGTTTGCA c.240
N Q L Q Y L L R V V L K T L W K H Q F A p.80
. . . . | 03 . . g.16424
TGGCCTTTCCAGCAGCCTGTGGATGCCGTCAAGCTGAACCTCCCT | GATTACTATAAGATC c.300
W P F Q Q P V D A V K L N L P | D Y Y K I p.100
. . . . . . g.16484
ATTAAAACGCCTATGGATATGGGAACAATAAAGAAGCGCTTGGAAAACAACTATTACTGG c.360
I K T P M D M G T I K K R L E N N Y Y W p.120
. . . . . . g.16544
AATGCTCAGGAATGTATCCAGGACTTCAACACTATGTTTACAAATTGTTACATCTACAAC c.420
N A Q E C I Q D F N T M F T N C Y I Y N p.140
| 04 . . . . . . g.17957
AAG | CCTGGAGATGACATAGTCTTAATGGCAGAAGCTCTGGAAAAGCTCTTCTTGCAAAAA c.480
K | P G D D I V L M A E A L E K L F L Q K p.160
. . . . . . g.18017
ATAAATGAGCTACCCACAGAAGAAACCGAGATCATGATAGTCCAGGCAAAAGGAAGAGGA c.540
I N E L P T E E T E I M I V Q A K G R G p.180
. | 05 . . . . g.19849
CGTGGGAGGAAAGAAACAG | GGACAGCAAAACCTGGCGTTTCCACGGTACCAAACACAACT c.600
R G R K E T G | T A K P G V S T V P N T T p.200
. . . . . . g.19909
CAAGCATCGACTCCTCCGCAGACCCAGACCCCTCAGCCGAATCCTCCTCCTGTGCAGGCC c.660
Q A S T P P Q T Q T P Q P N P P P V Q A p.220
. . . . . . g.19969
ACGCCTCACCCCTTCCCTGCCGTCACCCCGGACCTCATCGTCCAGACCCCTGTCATGACA c.720
T P H P F P A V T P D L I V Q T P V M T p.240
. . . . . . g.20029
GTGGTGCCTCCCCAGCCACTGCAGACGCCCCCGCCAGTGCCCCCCCAGCCACAACCCCCA c.780
V V P P Q P L Q T P P P V P P Q P Q P P p.260
. . . . . . g.20089
CCCGCTCCAGCTCCCCAGCCCGTACAGAGCCACCCACCCATCATCGCGGCCACCCCACAG c.840
P A P A P Q P V Q S H P P I I A A T P Q p.280
| 06 . . . . . g.20736
CCTGTGAAG | ACAAAGAAGGGAGTGAAGAGGAAAGCAGACACCACCACCCCCACCACCATT c.900
P V K | T K K G V K R K A D T T T P T T I p.300
. . . . . . g.20796
GACCCCATTCACGAGCCACCCTCGCTGCCCCCGGAGCCCAAGACCACCAAGCTGGGCCAG c.960
D P I H E P P S L P P E P K T T K L G Q p.320
. . . . . . g.20856
CGGCGGGAGAGCAGCCGGCCTGTGAAACCTCCAAAGAAGGACGTGCCCGACTCTCAGCAG c.1020
R R E S S R P V K P P K K D V P D S Q Q p.340
. . . . . . g.20916
CACCCAGCACCAGAGAAGAGCAGCAAGGTCTCGGAGCAGCTCAAGTGCTGCAGCGGCATC c.1080
H P A P E K S S K V S E Q L K C C S G I p.360
. . . . . . g.20976
CTCAAGGAGATGTTTGCCAAGAAGCACGCCGCCTACGCCTGGCCCTTCTACAAGCCTGTG c.1140
L K E M F A K K H A A Y A W P F Y K P V p.380
. . . . . . g.21036
GACGTGGAGGCACTGGGCCTACACGACTACTGTGACATCATCAAGCACCCCATGGACATG c.1200
D V E A L G L H D Y C D I I K H P M D M p.400
. | 07 . . . . . g.21951
AGCACAATCAAG | TCTAAACTGGAGGCCCGTGAGTACCGTGATGCTCAGGAGTTTGGTGCT c.1260
S T I K | S K L E A R E Y R D A Q E F G A p.420
. . . . . . g.22011
GACGTCCGATTGATGTTCTCCAACTGCTATAAGTACAACCCTCCTGACCATGAGGTGGTG c.1320
D V R L M F S N C Y K Y N P P D H E V V p.440
. . | 08 . . . . g.28317
GCCATGGCCCGCAAGCTCCAG | GATGTGTTCGAAATGCGCTTTGCCAAGATGCCGGACGAG c.1380
A M A R K L Q | D V F E M R F A K M P D E p.460
. . . . . . g.28377
CCTGAGGAGCCAGTGGTGGCCGTGTCCTCCCCGGCAGTGCCCCCTCCCACCAAGGTTGTG c.1440
P E E P V V A V S S P A V P P P T K V V p.480
. . . . . . g.28437
GCCCCGCCCTCATCCAGCGACAGCAGCAGCGATAGCTCCTCGGACAGTGACAGTTCGACT c.1500
A P P S S S D S S S D S S S D S D S S T p.500
. . . . . | 09 . g.29197
GATGACTCTGAGGAGGAGCGAGCCCAGCGGCTGGCTGAGCTCCAGGAGCAG | CTCAAAGCC c.1560
D D S E E E R A Q R L A E L Q E Q | L K A p.520
. . . . . . g.29257
GTGCACGAGCAGCTTGCAGCCCTCTCTCAGCCCCAGCAGAACAAACCAAAGAAAAAGGAG c.1620
V H E Q L A A L S Q P Q Q N K P K K K E p.540
. . . . . . g.29317
AAAGACAAGAAGGAAAAGAAAAAAGAAAAGCACAAAAGGAAAGAGGAAGTGGAAGAGAAT c.1680
K D K K E K K K E K H K R K E E V E E N p.560
. . . . . . g.29377
AAAAAAAGCAAAGCCAAGGAACCTCCTCCTAAAAAGACGAAGAAAAATAATAGCAGCAAC c.1740
K K S K A K E P P P K K T K K N N S S N p.580
. | 10 . . . . . g.29908
AGCAATGTGAG | CAAGAAGGAGCCAGCGCCCATGAAGAGCAAGCCCCCTCCCACGTATGAG c.1800
S N V S | K K E P A P M K S K P P P T Y E p.600
. . . . . . g.29968
TCGGAGGAAGAGGACAAGTGCAAGCCTATGTCCTATGAGGAGAAGCGGCAGCTCAGCTTG c.1860
S E E E D K C K P M S Y E E K R Q L S L p.620
. . . . . . g.30028
GACATCAACAAGCTCCCCGGCGAGAAGCTGGGCCGCGTGGTGCACATCATCCAGTCACGG c.1920
D I N K L P G E K L G R V V H I I Q S R p.640
. . . . . . g.30088
GAGCCCTCCCTGAAGAATTCCAACCCCGACGAGATTGAAATCGACTTTGAGACCCTGAAG c.1980
E P S L K N S N P D E I E I D F E T L K p.660
. . . . . . g.30148
CCGTCCACACTGCGTGAGCTGGAGCGCTATGTCACCTCCTGTTTGCGGAAGAAAAGGAAA c.2040
P S T L R E L E R Y V T S C L R K K R K p.680
| 11. . . . . . g.31242
CCTCAAG | CTGAGAAAGTTGATGTGATTGCCGGCTCCTCCAAGATGAAGGGCTTCTCGTCC c.2100
P Q A | E K V D V I A G S S K M K G F S S p.700
. . . . . | 12 g.40691
TCAGAGTCGGAGAGCTCCAGTGAGTCCAGCTCCTCTGACAGCGAAGACTCCGAAACAG | AG c.2160
S E S E S S S E S S S S D S E D S E T E | p.720
. . . . . | 13 . g.40860
ATGGCTCCGAAGTCAAAAAAGAAGGGGCACCCCGGGAGGGAGCAGAAGAAG | CACCATCAT c.2220
M A P K S K K K G H P G R E Q K K | H H H p.740
. . . . . . g.40920
CACCACCATCAGCAGATGCAGCAGGCCCCGGCTCCTGTGCCCCAGCAGCCGCCCCCGCCT c.2280
H H H Q Q M Q Q A P A P V P Q Q P P P P p.760
. . . . . . g.40980
CCCCAGCAGCCCCCACCGCCTCCACCTCCGCAGCAGCAACAGCAGCCGCCACCCCCGCCT c.2340
P Q Q P P P P P P P Q Q Q Q Q P P P P P p.780
. . . . . . g.41040
CCCCCACCCTCCATGCCGCAGCAGGCAGCCCCGGCGATGAAGTCCTCGCCCCCACCCTTC c.2400
P P P S M P Q Q A A P A M K S S P P P F p.800
. . . . . . g.41100
ATTGCCACCCAGGTGCCCGTCCTGGAGCCCCAGCTCCCAGGCAGCGTCTTTGACCCCATC c.2460
I A T Q V P V L E P Q L P G S V F D P I p.820
. . . . . . g.41160
GGCCACTTCACCCAGCCCATCCTGCACCTGCCGCAGCCTGAGCTGCCCCCTCACCTGCCC c.2520
G H F T Q P I L H L P Q P E L P P H L P p.840
. . . . . . g.41220
CAGCCGCCTGAGCACAGCACTCCACCCCATCTCAACCAGCACGCAGTGGTCTCTCCTCCA c.2580
Q P P E H S T P P H L N Q H A V V S P P p.860
| 14 . . . . . . g.42023
G | CTTTGCACAACGCACTACCCCAGCAGCCATCACGGCCCAGCAACCGAGCCGCTGCCCTG c.2640
A | L H N A L P Q Q P S R P S N R A A A L p.880
. . . . . . g.42083
CCTCCCAAGCCCGCCCGGCCCCCAGCCGTGTCACCAGCCTTGACCCAAACACCCCTGCTC c.2700
P P K P A R P P A V S P A L T Q T P L L p.900
. . . . . . g.42143
CCACAGCCCCCCATGGCCCAACCCCCCCAAGTGCTGCTGGAGGATGAAGAGCCACCTGCC c.2760
P Q P P M A Q P P Q V L L E D E E P P A p.920
. . . . . . g.42203
CCACCCCTCACCTCCATGCAGATGCAGCTGTACCTGCAGCAGCTGCAGAAGGTGCAGCCC c.2820
P P L T S M Q M Q L Y L Q Q L Q K V Q P p.940
. . . . . . g.42263
CCTACGCCGCTACTCCCTTCCGTGAAGGTGCAGTCCCAGCCCCCACCCCCCCTGCCGCCC c.2880
P T P L L P S V K V Q S Q P P P P L P P p.960
. . . . . . g.42323
CCACCCCACCCCTCTGTGCAGCAGCAGCTGCAGCAGCAGCCGCCACCACCCCCACCACCC c.2940
P P H P S V Q Q Q L Q Q Q P P P P P P P p.980
. . . . . . g.42383
CAGCCCCAGCCTCCACCCCAGCAGCAGCATCAGCCCCCTCCACGGCCCGTGCACTTGCAG c.3000
Q P Q P P P Q Q Q H Q P P P R P V H L Q p.1000
. . . . . . g.42443
CCCATGCAGTTTTCCACCCACATCCAACAGCCCCCGCCACCCCAGGGCCAGCAGCCCCCC c.3060
P M Q F S T H I Q Q P P P P Q G Q Q P P p.1020
. . . . . . g.42503
CATCCGCCCCCAGGCCAGCAGCCACCCCCGCCGCAGCCTGCCAAGCCTCAGCAAGTCATC c.3120
H P P P G Q Q P P P P Q P A K P Q Q V I p.1040
. . . . | 15 . g.45440
CAGCACCACCATTCACCCCGGCACCACAAGTCGGACCCCTACTCAACCG | GTCACCTCCGC c.3180
Q H H H S P R H H K S D P Y S T G | H L R p.1060
. . . . . . g.45500
GAAGCCCCCTCCCCGCTTATGATACATTCCCCCCAGATGTCACAGTTCCAGAGCCTGACC c.3240
E A P S P L M I H S P Q M S Q F Q S L T p.1080
. . . . | 16 . . g.45648
CACCAGTCTCCACCCCAGCAAAACGTCCAGCCTAAGAAACAG | GAGCTGCGTGCTGCCTCC c.3300
H Q S P P Q Q N V Q P K K Q | E L R A A S p.1100
. . . . . . g.45708
GTGGTCCAGCCCCAGCCCCTCGTGGTGGTGAAGGAGGAGAAGATCCACTCACCCATCATC c.3360
V V Q P Q P L V V V K E E K I H S P I I p.1120
. . . . . . g.45768
CGCAGCGAGCCCTTCAGCCCCTCGCTGCGGCCGGAGCCCCCCAAGCACCCGGAGAGCATC c.3420
R S E P F S P S L R P E P P K H P E S I p.1140
. . | 17 . . . . g.45964
AAGGCCCCCGTCCACCTGCCCCAGC | GGCCGGAAATGAAGCCTGTGGATGTCGGGAGGCCT c.3480
K A P V H L P Q R | P E M K P V D V G R P p.1160
. . . . . . g.46024
GTGATCCGGCCCCCAGAGCAGAACGCACCGCCACCAGGGGCCCCTGACAAGGACAAACAG c.3540
V I R P P E Q N A P P P G A P D K D K Q p.1180
. . . | 18 . . . g.46211
AAACAGGAGCCGAAGACTCCAGTTGCGCCCAAAAAG | GACCTGAAAATCAAGAACATGGGC c.3600
K Q E P K T P V A P K K | D L K I K N M G p.1200
. . . . . . g.46271
TCCTGGGCCAGCCTAGTGCAGAAGCATCCGACCACCCCCTCCTCCACAGCCAAGTCATCC c.3660
S W A S L V Q K H P T T P S S T A K S S p.1220
. . . . . . g.46331
AGCGACAGCTTCGAGCAGTTCCGCCGCGCCGCTCGGGAGAAAGAGGAGCGTGAGAAGGCC c.3720
S D S F E Q F R R A A R E K E E R E K A p.1240
. . . . . . g.46391
CTGAAGGCTCAGGCCGAGCACGCTGAGAAGGAGAAGGAGCGGCTGCGGCAGGAGCGCATG c.3780
L K A Q A E H A E K E K E R L R Q E R M p.1260
| 19 . . . . . . g.46529
AG | GAGCCGAGAGGACGAGGATGCGCTGGAGCAGGCCCGGCGGGCCCATGAGGAGGCACGT c.3840
R | S R E D E D A L E Q A R R A H E E A R p.1280
. . . . . . g.46589
CGGCGCCAGGAGCAGCAGCAGCAGCAGCGCCAGGAGCAACAGCAGCAGCAGCAACAGCAA c.3900
R R Q E Q Q Q Q Q R Q E Q Q Q Q Q Q Q Q p.1300
. . . . . . g.46649
GCAGCTGCGGTGGCTGCCGCCGCCACCCCACAGGCCCAGAGCTCCCAGCCCCAGTCCATG c.3960
A A A V A A A A T P Q A Q S S Q P Q S M p.1320
. . . . . . g.46709
CTGGACCAGCAGAGGGAGTTGGCCCGGAAGCGGGAGCAGGAGCGAAGACGCCGGGAAGCC c.4020
L D Q Q R E L A R K R E Q E R R R R E A p.1340
| 20 . . . . . . g.47066
| ATGGCAGCTACCATTGACATGAATTTCCAGAGTGATCTATTGTCAATATTTGAAGAAAAT c.4080
| M A A T I D M N F Q S D L L S I F E E N p.1360
g.47075
CTTTTCTGA c.4089
L F X p.1362
. . . . . . g.47135
gcgcacctaggtggcttctgactttgattttctggcaaaacattgactttccatagtgtt c.*60
. . . . . . g.47195
aggggcggtggtggaggtgggatcagcggccaggggatgcctcagggcctggccctcctg c.*120
. . . . . . g.47255
catgctatgcccggggcaggcctgacgggcagctgaggattgcagagcctgtctgcctta c.*180
. . . . . . g.47315
cggccagtcggacagacgtcccgccacccaccacccctcacaggacgtccgctcagcaca c.*240
. . . . . . g.47375
cgccttgttacgagcaagtgccggctggacccaagccctgcatccccacatgcggggcag c.*300
. . . . . . g.47435
aggcccttctctccgccaaatgtctacacagtatacacaggacatcgttgctgccgccgt c.*360
. . . . . . g.47495
gactggttttctgtccccaagaacgtgacgttcgtgatgtcctgcccgccgggagtcttt c.*420
. . . . . . g.47555
ccccacaccccagccatcgccgcccgctcccaggaggccagggcaggcctgcgtgggctg c.*480
. . . . . . g.47615
gaggcgggcgaggccggcccaccccctcgctggcactgactttgccttgaacagaccccc c.*540
. . . . . . g.47675
cgaccctcccccacaagcctttaattgagagccgctctctgtaagtgtttgcttgtgcaa c.*600
. . . . . . g.47735
aagggaatagtgccgtggaggtgtgtgtgtccatggcatccggagcgaggcgactgtcct c.*660
. . . . . . g.47795
gcgtgggtagccctcggccggggagtgaggccaccaaccaaagtcagttccttcccacct c.*720
. . . . . . g.47855
gtgtttctgtttcgtttttttttttcttttttttctatatatattttttgttgaattcta c.*780
. . . . . . g.47915
ttttatttttaattctctcttctcctccagacacaatggcactgcttatctccgaaatgg c.*840
. . . . g.47962
tgtgatcgtctcctcattgagcagcggctgccaccgcgctgtgggta c.*887
(downstream sequence)
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