(used for variant description)
(last modified January 26, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_001003694.1 in the BRPF1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_052955.1, covering BRPF1 transcript NM_001003694.1.
(upstream sequence)
. . . g.5060
cgtcgccgccgctgctgccgccgccgctgccacagcctt c.-361
. . . . . . g.5120
tgccgccacggtctccgccgccgctgtcctcgcgctgcctctgggagcctccattgttcc c.-301
. . . . . . g.5180
agcagcgcccggtcccgagaccgggcatcttgggggctcgcgaaacgggcggcggccgac c.-241
. . . . . . g.5240
ggagttgagaccccagggcgccggcgggaccaggagcggcaggggtcagctcaggaatcc c.-181
. . . . . . g.5300
cggggagccgggaccaaagcgtggggcggcagggggccggggtggcgaggtctacggtct c.-121
. . . . . . g.5360
ccggagttggggctcccccttcccggcccgactttccccgccgacctccccaagtggggt c.-61
. . . . . | 02 g.7412
cggagccccggcgggcgcccccggcgatgagcccggactcgaggtggccg | atgtgacagc c.-1
. . . . . . g.7472
ATGGGGGTGGACTTTGATGTGAAGACTTTCTGCCACAACTTGCGGGCGACTAAGCCACCA c.60
M G V D F D V K T F C H N L R A T K P P p.20
. . . . . . g.7532
TACGAGTGCCCGGTGGAGACCTGCCGAAAGGTCTACAAGAGTTACAGTGGTATTGAGTAC c.120
Y E C P V E T C R K V Y K S Y S G I E Y p.40
. . . . . . g.7592
CACCTGTACCACTATGACCACGACAACCCACCACCCCCACAACAAACTCCACTCCGCAAG c.180
H L Y H Y D H D N P P P P Q Q T P L R K p.60
. . . . . . g.7652
CACAAGAAAAAGGGGCGCCAGTCACGCCCAGCCAACAAGCAGTCACCCAGCCCCTCAGAG c.240
H K K K G R Q S R P A N K Q S P S P S E p.80
. . . . . . g.7712
GTCTCACAGTCACCAGGCCGTGAGGTGATGAGCTATGCACAGGCCCAGCGCATGGTGGAG c.300
V S Q S P G R E V M S Y A Q A Q R M V E p.100
. . . . . . g.7772
GTGGACTTGCATGGCCGCGTCCACCGCATCAGCATCTTTGACAACCTGGATGTGGTGTCA c.360
V D L H G R V H R I S I F D N L D V V S p.120
. . . . . . g.7832
GAGGATGAGGAAGCCCCCGAGGAGGCCCCTGAGAATGGCAGCAACAAGGAGAACACTGAG c.420
E D E E A P E E A P E N G S N K E N T E p.140
. . . . . . g.7892
ACACCAGCTGCTACTCCCAAGTCAGGCAAACATAAGAACAAGGAGAAGCGCAAGGACTCC c.480
T P A A T P K S G K H K N K E K R K D S p.160
. . . . . . g.7952
AACCATCACCACCACCACAATGTTTCTGCGAGCACCACTCCCAAGCTGCCAGAGGTGGTC c.540
N H H H H H N V S A S T T P K L P E V V p.180
. . . . . | 03 g.12271
TATCGGGAGCTGGAACAGGACACCCCTGATGCCCCACCCCGGCCAACTTCCTATTACCG | G c.600
Y R E L E Q D T P D A P P R P T S Y Y R | p.200
. . . . . . g.12331
TACATCGAGAAGTCTGCAGAGGAGCTGGACGAGGAAGTAGAGTATGACATGGACGAGGAG c.660
Y I E K S A E E L D E E V E Y D M D E E p.220
. . . . . . g.12391
GACTACATCTGGCTGGATATCATGAATGAGCGTCGGAAGACAGAGGGTGTAAGTCCCATC c.720
D Y I W L D I M N E R R K T E G V S P I p.240
. . . . . . g.12451
CCGCAGGAGATCTTTGAGTACCTAATGGACCGACTGGAGAAGGAGTCGTACTTTGAGAGT c.780
P Q E I F E Y L M D R L E K E S Y F E S p.260
. . . . . . g.12511
CATAATAAAGGCGACCCTAATGCGCTAGTGGACGAGGATGCTGTTTGCTGTATCTGCAAT c.840
H N K G D P N A L V D E D A V C C I C N p.280
. . . . . . g.12571
GATGGTGAGTGCCAGAACAGCAATGTCATCCTCTTCTGTGACATGTGCAACCTGGCCGTG c.900
D G E C Q N S N V I L F C D M C N L A V p.300
. . . . . . g.12631
CACCAGGAGTGCTACGGTGTCCCCTATATCCCTGAGGGCCAGTGGCTGTGCCGCCGTTGC c.960
H Q E C Y G V P Y I P E G Q W L C R R C p.320
. . . . . . g.12691
CTGCAGTCACCCTCTCGTGCTGTGGATTGTGCCCTGTGCCCCAACAAGGGCGGTGCCTTC c.1020
L Q S P S R A V D C A L C P N K G G A F p.340
. . . . . . g.12751
AAGCAGACAGATGACGGGCGCTGGGCCCATGTGGTGTGTGCCTTGTGGATCCCTGAGGTC c.1080
K Q T D D G R W A H V V C A L W I P E V p.360
. . . . . . g.12811
TGCTTCGCCAACACGGTCTTCCTAGAGCCTATTGACAGCATTGAGCACATCCCACCAGCT c.1140
C F A N T V F L E P I D S I E H I P P A p.380
. . . . . . g.12871
CGCTGGAAGCTCACCTGCTACATTTGCAAACAACGGGGCTCAGGGGCCTGCATCCAGTGC c.1200
R W K L T C Y I C K Q R G S G A C I Q C p.400
. . . . . . g.12931
CACAAGGCCAACTGTTACACAGCTTTCCATGTGACATGCGCCCAGCAGGCTGGCCTTTAC c.1260
H K A N C Y T A F H V T C A Q Q A G L Y p.420
. . . . . . g.12991
ATGAAGATGGAGCCTGTGCGGGAGACAGGCGCCAACGGCACCTCTTTCAGTGTCCGCAAG c.1320
M K M E P V R E T G A N G T S F S V R K p.440
. . . . . . g.13051
ACAGCCTACTGCGACATCCACACGCCTCCAGGTTCAGCACGCCGACTGCCTGCCCTGTCC c.1380
T A Y C D I H T P P G S A R R L P A L S p.460
. . . . . . g.13111
CACAGCGAGGGTGAGGAGGATGAAGATGAGGAGGAGGATGAGGGTAAGGGCTGGAGCTCA c.1440
H S E G E E D E D E E E D E G K G W S S p.480
. . . . . . g.13171
GAGAAAGTCAAGAAGGCCAAGGCCAAGTCCCGGATCAAAATGAAGAAGGCACGGAAGATC c.1500
E K V K K A K A K S R I K M K K A R K I p.500
. . . . . | 04 g.14051
CTGGCAGAGAAGCGGGCAGCAGCACCTGTGGTGTCAGTGCCCTGCATCCCACCACACAG | G c.1560
L A E K R A A A P V V S V P C I P P H R | p.520
. . . . . . g.14111
CTTAGTAAAATCACCAACCGCCTGACCATCCAAAGGAAGAGCCAGTTCATGCAGAGGCTG c.1620
L S K I T N R L T I Q R K S Q F M Q R L p.540
. . . . . . g.14171
CACAGCTACTGGACACTGAAGCGGCAGTCACGGAATGGGGTCCCATTGCTACGTCGCCTG c.1680
H S Y W T L K R Q S R N G V P L L R R L p.560
. . . . | 05 . . g.14597
CAGACACACCTGCAATCTCAGAGGAACTGTGACCAAGTTGGG | AGAGATTCTGAGGATAAG c.1740
Q T H L Q S Q R N C D Q V G | R D S E D K p.580
. . . . . . g.14657
AACTGGGCCCTTAAAGAACAGCTCAAGTCCTGGCAGCGGCTCCGGCATGACTTGGAGCGA c.1800
N W A L K E Q L K S W Q R L R H D L E R p.600
. . . . . | 06 . g.15302
GCTCGGCTGCTCGTGGAATTGATCCGCAAGCGGGAAAAACTCAAAAGGGAGACG | ATCAAG c.1860
A R L L V E L I R K R E K L K R E T | I K p.620
. . . . . . g.15362
GTTCAGCAGATTGCCATGGAGATGCAGCTGACTCCTTTCCTCATCCTCCTTCGCAAAACC c.1920
V Q Q I A M E M Q L T P F L I L L R K T p.640
. . . . . . g.15422
TTGGAGCAGCTCCAAGAGAAGGACACAGGCAACATCTTCAGCGAGCCGGTCCCTCTGTCT c.1980
L E Q L Q E K D T G N I F S E P V P L S p.660
. . | 07 . . . . g.16254
GAGGTAACCGAATTGGACGAA | GTACCTGACTACCTAGACCACATCAAAAAGCCCATGGAC c.2040
E V T E L D E | V P D Y L D H I K K P M D p.680
. . . . . . g.16314
TTTTTCACCATGAAGCAGAACTTGGAGGCTTACCGCTACCTGAATTTTGATGATTTTGAG c.2100
F F T M K Q N L E A Y R Y L N F D D F E p.700
. . . . . . g.16374
GAGGACTTCAACCTCATCGTCAGCAACTGCCTCAAGTATAACGCCAAGGACACCATCTTC c.2160
E D F N L I V S N C L K Y N A K D T I F p.720
. . . . . . g.16434
TACCGGGCAGCAGTGCGGCTTCGTGAGCAGGGTGGTGCTGTGCTCCGCCAGGCCCGGCGC c.2220
Y R A A V R L R E Q G G A V L R Q A R R p.740
. . . . . . g.16494
CAGGCAGAAAAAATGGGCATTGACTTTGAGACGGGCATGCATATCCCCCACAGCCTGGCT c.2280
Q A E K M G I D F E T G M H I P H S L A p.760
. . . | 08 . . . g.16878
GGAGATGAGGCCACACACCACACTGAAGATG | CAGCCGAGGAAGAGCGGCTGGTCTTGCTG c.2340
G D E A T H H T E D A | A E E E R L V L L p.780
. . . . . . g.16938
GAGAACCAGAAGCACCTGCCAGTGGAAGAACAGCTAAAGCTGCTTCTGGAGCGGCTGGAC c.2400
E N Q K H L P V E E Q L K L L L E R L D p.800
. . . . . . g.16998
GAAGTGAATGCCAGCAAGCAGAGTGTGGGCCGCTCACGGCGTGCAAAGATGATCAAGAAA c.2460
E V N A S K Q S V G R S R R A K M I K K p.820
. . . . . . g.17058
GAGATGACGGCACTGCGGCGGAAGCTTGCCCATCAGCGAGAGACGGGACGTGATGGCCCT c.2520
E M T A L R R K L A H Q R E T G R D G P p.840
. . . . . . g.17118
GAGCGGCATGGCCCCTCGAGCCGGGGTAGTCTGACACCCCACCCGGCAGCCTGTGACAAG c.2580
E R H G P S S R G S L T P H P A A C D K p.860
. . . . . | 09 . g.17500
GATGGGCAGACAGATAGTGCGGCAGAGGAGAGCAGCAGCCAGGAGACAAGCAAAG | GCCTG c.2640
D G Q T D S A A E E S S S Q E T S K G | L p.880
. . . . . . g.17560
GGTCCCAACATGTCCTCAACCCCCGCACATGAGGTGGGCAGGAGAACCTCAGTTCTGTTC c.2700
G P N M S S T P A H E V G R R T S V L F p.900
. . . . . . g.17620
TCCAAAAAGAACCCGAAGACAGCTGGACCGCCCAAGAGGCCGGGCCGGCCCCCCAAAAAC c.2760
S K K N P K T A G P P K R P G R P P K N p.920
. . . . . . g.17680
CGGGAGAGCCAGATGACCCCCAGCCACGGAGGCAGTCCTGTGGGGCCCCCCCAGCTCCCC c.2820
R E S Q M T P S H G G S P V G P P Q L P p.940
. . . . . . g.17740
ATCATGAGTTCCCTGCGTCAGCGCAAGCGGGGTAGGAGCCCCCGGCCCAGTTCGAGCTCA c.2880
I M S S L R Q R K R G R S P R P S S S S p.960
. . . . | 10 . . g.18299
GACAGCGACAGTGATAAGTCCACAGAAGACCCCCCAATGG | ACTTACCAGCCAATGGCTTC c.2940
D S D S D K S T E D P P M D | L P A N G F p.980
. . . . . . g.18359
AGCGGTGGAAACCAACCAGTGAAGAAGAGTTTCTTGGTATACCGTAATGACTGCAGCCTT c.3000
S G G N Q P V K K S F L V Y R N D C S L p.1000
. . . . . . g.18419
CCCCGGAGCAGCTCAGACTCTGAGTCCAGCAGCAGTAGCAGTAGCAGCGCTGCTTCAGAC c.3060
P R S S S D S E S S S S S S S S A A S D p.1020
| 11 . . . . . g.18896
CGGACCAG | CACAACGCCCTCAAAACAAGGCCGGGGCAAACCCTCCTTCTCTCGGGGCACT c.3120
R T S | T T P S K Q G R G K P S F S R G T p.1040
. . . . . . g.18956
TTCCCAGAGGACAGCAGTGAGGATACCTCAGGCACTGAGAATGAGGCCTACTCCGTGGGC c.3180
F P E D S S E D T S G T E N E A Y S V G p.1060
. . | 12 . . . . g.19118
ACTGGCCGCGGCGTGGGCCACAGCA | TGGTAAGGAAGAGTCTGGGCCGGGGAGCTGGCTGG c.3240
T G R G V G H S M | V R K S L G R G A G W p.1080
. . . . . . g.19178
CTGTCAGAGGATGAGGACTCCCCGCTGGATGCTCTGGACCTCGTGTGGGCCAAATGCCGA c.3300
L S E D E D S P L D A L D L V W A K C R p.1100
. . | 13 . . . . g.19607
GGCTATCCATCATACCCAGCTCTG | ATCATTGATCCAAAGATGCCCCGAGAAGGTATGTTC c.3360
G Y P S Y P A L | I I D P K M P R E G M F p.1120
. . . . . . g.19667
CACCATGGGGTTCCCATCCCTGTGCCCCCACTGGAGGTGCTGAAACTTGGGGAGCAGATG c.3420
H H G V P I P V P P L E V L K L G E Q M p.1140
. . . . . | 14 g.20438
ACCCAGGAAGCCCGAGAGCATCTCTACCTCGTCCTCTTCTTTGACAACAAACGAACCTG | G c.3480
T Q E A R E H L Y L V L F F D N K R T W | p.1160
. . . . . . g.20498
CAGTGGCTGCCCAGGACCAAGCTGGTTCCTCTGGGTGTGAACCAGGACCTAGACAAGGAG c.3540
Q W L P R T K L V P L G V N Q D L D K E p.1180
. . . . . . g.20558
AAGATGCTGGAGGGCCGCAAGTCCAACATCCGCAAGTCAGTACAGATCGCCTACCACAGG c.3600
K M L E G R K S N I R K S V Q I A Y H R p.1200
. . . . . . g.20618
GCTCTGCAGCACCGCAGCAAGGTGCAAGGCGAGCAGAGCAGTGAGACCAGCGATAGTGAT c.3660
A L Q H R S K V Q G E Q S S E T S D S D p.1220
g.20621
TGA c.3663
X p.1220
. . . . . . g.20681
tactgctcaacacagcccaacctatagtgccctgtgacttctctcctcccctttgctcac c.*60
. . . . . . g.20741
tgtcctggagtggcaccggcctctgcactgactcatttctggtcttggggccagtctcag c.*120
. . . . . . g.20801
gggaagctgggtgggggaggtccctcctgccctaagtgcagctggactgtacagaacact c.*180
. . . . . . g.20861
ccaagggccaatggcagttcagcgcaaggagagggagggcccacaggtcagaaaaagctc c.*240
. . . . . . g.20921
cagagacctcacagcattgtagggcggggtggtgggccaaagttaggacactgcgtaaaa c.*300
. . . . . . g.20981
caggccatcccaccacctctacctgctcatgccaggagaatccataactgcctagaggcc c.*360
. . . . . . g.21041
tggggcccctaccggtcgtgaggtgagtgggcatctgtccagcctggaagaggggcacta c.*420
. . . . . . g.21101
ggtgactccctcccctgctgttgtaaatactgtaattatcggagaatttaaattattctc c.*480
. . . . . . g.21161
atttgtaactgcgtttccgggtcgcgccagagtcatttggtactaaaaaaaaaaaaaaaa c.*540
. . . . . . g.21221
aagactgggggctgtccccatttcccttctctttcccatagattcccccacctttcaaac c.*600
. . . . . . g.21281
tggtttgtatttatttcaaaggaagaaaatatattgattcttagaaaataaactgtcaat c.*660
g.21287
ttagaa c.*666
(downstream sequence)
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