(used for variant description)
(last modified June 11, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001242806.1 in the BRDT gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering BRDT transcript NM_001242806.1.
(upstream sequence)
. . . . g.5049
tataaaagcgcctgtcgcgcgaccgccattacaacaaaaactggcggcg c.-301
. . . . . . g.5109
aggaactgcggagaactgttgccctgcaccgcttcattttgtgcagcctgaaaggggcaa c.-241
. . . . . . g.5169
tcacataaggtcggttttgtaatatacaggtaacatacaggtaatgtaccctccacaggg c.-181
. . . . . . g.5229
ggtgctgccttaggccggccccgaggtgcggccttgggtgggaacaaccgttttttcccc c.-121
. . . . . . g.5289
cctctcccctccccgaccccatcaacatcgtgcgacagtccgggcagttgagaaggccac c.-61
. . . | 02 . . . g.18384
cccgcttcgtgcctgcagcccag | gacatgtacttgtagacaggattcaaagcagttaaga c.-1
. . . . . . g.18444
ATGTCTCTGCCAAGTCGACAAACAGCTATTATTGTTAACCCTCCTCCACCAGAATATATA c.60
M S L P S R Q T A I I V N P P P P E Y I p.20
. . . . . . g.18504
AATACTAAGAAAAATGGGCGATTGACAAATCAACTTCAGTATCTACAAAAAGTTGTCCTA c.120
N T K K N G R L T N Q L Q Y L Q K V V L p.40
. . . . . . g.18564
AAGGATTTATGGAAGCATAGTTTTTCATGGCCCTTTCAACGTCCTGTGGATGCTGTGAAA c.180
K D L W K H S F S W P F Q R P V D A V K p.60
. | 03 . . . . . g.20304
CTACAGTTGCCT | GATTATTATACCATTATAAAAAACCCAATGGATTTAAATACAATTAAG c.240
L Q L P | D Y Y T I I K N P M D L N T I K p.80
. . . . . . g.20364
AAGCGCTTGGAGAATAAATATTATGCGAAGGCTTCAGAATGTATAGAAGACTTCAATACA c.300
K R L E N K Y Y A K A S E C I E D F N T p.100
. . . | 04 . . . g.23805
ATGTTCTCAAATTGTTATTTATATAACAAG | CCTGGAGATGACATTGTTCTTATGGCACAA c.360
M F S N C Y L Y N K | P G D D I V L M A Q p.120
. . . . . . g.23865
GCTCTAGAGAAGCTGTTTATGCAGAAATTATCTCAGATGCCACAAGAAGAGCAAGTTGTG c.420
A L E K L F M Q K L S Q M P Q E E Q V V p.140
. . . | 05. . . g.31918
GGTGTTAAGGAAAGAATCAAGAAAGGTAAGGCAGGAG | GCACTCAACAGAATATAGCTGTT c.480
G V K E R I K K G K A G G | T Q Q N I A V p.160
. . . . . . g.31978
TCTTCTGCTAAAGAAAAATCATCACCCAGCGCAACAGAAAAAGTATTTAAGCAGCAAGAA c.540
S S A K E K S S P S A T E K V F K Q Q E p.180
. . . . . . g.32038
ATTCCTTCTGTATTTCCTAAGACATCTATTTCTCCCTTGAACGTGGTACAGGGAGCTTCA c.600
I P S V F P K T S I S P L N V V Q G A S p.200
. . . | 06 . . . g.32702
GTCAACTCCAGTTCACAAACTGCGGCCCAA | GTTACAAAAGGTGTGAAGAGGAAAGCAGAT c.660
V N S S S Q T A A Q | V T K G V K R K A D p.220
. . . . . . g.32762
ACAACAACTCCTGCAACTTCAGCAGTTAAAGCAAGTAGTGAATTTTCTCCAACATTCACA c.720
T T T P A T S A V K A S S E F S P T F T p.240
. . . . . . g.32822
GAAAAATCAGTGGCACTGCCACCTATAAAAGAAAATATGCCAAAGAATGTTTTGCCAGAT c.780
E K S V A L P P I K E N M P K N V L P D p.260
. . . . . . g.32882
TCTCAGCAACAATATAATGTTGTGAAGACTGTTAAAGTAACTGAACAATTAAGGCACTGT c.840
S Q Q Q Y N V V K T V K V T E Q L R H C p.280
. . . . . . g.32942
AGTGAGATTCTTAAAGAAATGCTTGCAAAGAAACATTTTTCATATGCATGGCCCTTTTAT c.900
S E I L K E M L A K K H F S Y A W P F Y p.300
. . . . . . g.33002
AATCCTGTTGACGTTAATGCTTTGGGACTCCATAACTACTATGACGTTGTCAAAAATCCG c.960
N P V D V N A L G L H N Y Y D V V K N P p.320
. . | 07 . . . . g.33836
ATGGATCTTGGAACTATTAAG | GAGAAAATGGATAACCAAGAATATAAGGATGCATACAAA c.1020
M D L G T I K | E K M D N Q E Y K D A Y K p.340
. . . . . . g.33896
TTTGCGGCAGATGTTAGATTAATGTTCATGAATTGCTACAAGTACAATCCTCCAGATCAC c.1080
F A A D V R L M F M N C Y K Y N P P D H p.360
. . . | 08 . . . g.35228
GAAGTTGTGACAATGGCAAGAATGCTTCAG | GATGTTTTCGAAACGCATTTTTCAAAGATC c.1140
E V V T M A R M L Q | D V F E T H F S K I p.380
. . . . . . g.35288
CCGATTGAACCTGTTGAGAGTATGCCTTTATGTTACATCAAAACAGATATCACAGAAACC c.1200
P I E P V E S M P L C Y I K T D I T E T p.400
. . . . . . g.35348
ACTGGTAGAGAGAACACTAATGAAGCCTCCTCTGAAGGGAACTCTTCTGATGATTCTGAA c.1260
T G R E N T N E A S S E G N S S D D S E p.420
. . . | 09 . . g.36293
GATGAGCGAGTTAAGCGTCTTGCAAAGCTTCAGGAGCAG | CTTAAAGCTGTACATCAACAG c.1320
D E R V K R L A K L Q E Q | L K A V H Q Q p.440
. . . . . . g.36353
CTCCAGGTTTTGTCCCAAGTACCTTTCCGTAAGCTAAATAAAAAGAAAGAGAAGTCTAAA c.1380
L Q V L S Q V P F R K L N K K K E K S K p.460
. . . . . . g.36413
AAGGAAAAGAAAAAAGAAAAGGTTAATAACAGCAATGAAAATCCAAGAAAAATGTGTGAG c.1440
K E K K K E K V N N S N E N P R K M C E p.480
. . . | 10 . . . g.36546
CAAATGAGGCTAAAGGAAAAGTCCAAGAGAAA | TCAGCCAAAGAAAAGGAAACAACAGTTC c.1500
Q M R L K E K S K R N | Q P K K R K Q Q F p.500
. . . . . . g.36606
ATTGGTCTAAAATCTGAAGATGAAGATAATGCTAAACCTATGAACTATGATGAGAAAAGG c.1560
I G L K S E D E D N A K P M N Y D E K R p.520
. . . . . . g.36666
CAGTTAAGTCTGAATATAAACAAACTCCCTGGAGATAAACTTGGGCGAGTAGTTCACATA c.1620
Q L S L N I N K L P G D K L G R V V H I p.540
. . . . . . g.36726
ATACAATCAAGAGAGCCTTCTCTGAGCAATTCCAATCCTGATGAGATAGAGATAGACTTT c.1680
I Q S R E P S L S N S N P D E I E I D F p.560
. . . . . . g.36786
GAAACACTGAAAGCATCAACACTAAGAGAATTAGAAAAATATGTTTCGGCATGTCTAAGA c.1740
E T L K A S T L R E L E K Y V S A C L R p.580
. . | 11 . . . . g.36935
AAGAGACCATTAAAACCTCCTG | CTAAGAAAATAATGATGTCCAAAGAAGAACTTCACTCA c.1800
K R P L K P P A | K K I M M S K E E L H S p.600
. . . . . . g.36995
CAGAAAAAACAGGAATTGGAAAAGCGGTTACTGGATGTTAATAATCAGTTAAATTCTAGA c.1860
Q K K Q E L E K R L L D V N N Q L N S R p.620
. | 12 . . . . . g.37291
AAACGTCAAACAAAAT | CTGATAAAACGCAACCATCCAAAGCTGTTGAAAATGTTTCCCGA c.1920
K R Q T K S | D K T Q P S K A V E N V S R p.640
. . . . . . g.37351
CTGAGTGAGAGCAGCAGCAGCAGCAGCAGCTCATCAGAGTCTGAAAGTAGCAGCAGTGAC c.1980
L S E S S S S S S S S S E S E S S S S D p.660
. . . | 13 . . . g.46839
TTAAGCTCTTCAGACAGCAGTGATTCTGAATCAG | AAATGTTCCCTAAGTTTACAGAAGTA c.2040
L S S S D S S D S E S E | M F P K F T E V p.680
. . . | 14 . . . g.47917
AAACCAAATGATTCTCCTTCTAAAGAGAATGTAAAG | AAAATGAAGAATGAATGCATACCG c.2100
K P N D S P S K E N V K | K M K N E C I P p.700
. . | 15. . . . g.49745
CCTGAAGGAAGAACAGGCGTCACACAG | ATAGGATATTGTGTGCAAGACACAACCTCTGCC c.2160
P E G R T G V T Q | I G Y C V Q D T T S A p.720
. . . . . . g.49805
AATACTACCCTTGTTCATCAGACCACACCTTCACATGTAATGCCACCAAATCACCACCAA c.2220
N T T L V H Q T T P S H V M P P N H H Q p.740
. . . . . . g.49865
TTAGCATTTAATTATCAAGAATTAGAACATTTACAGACTGTGAAAAACATTTCACCTTTA c.2280
L A F N Y Q E L E H L Q T V K N I S P L p.760
. | 16 . . . . g.57719
CAAATTCTGCCTCCCTCAG | GTGATTCTGAACAGCTCTCAAATGGCATAACTGTGATGCAT c.2340
Q I L P P S G | D S E Q L S N G I T V M H p.780
. . . . . . g.57779
CCATCTGGTGATAGTGACACAACGATGTTAGAATCTGAATGTCAAGCTCCTGTACAGAAG c.2400
P S G D S D T T M L E S E C Q A P V Q K p.800
| 17 . . . . . . g.60103
| GATATAAAGATTAAGAATGCAGATTCATGGAAAAGTTTAGGCAAACCAGTGAAACCATCA c.2460
| D I K I K N A D S W K S L G K P V K P S p.820
. . . . . . g.60163
GGTGTAATGAAATCCTCAGATGAGCTCTTCAACCAATTTAGAAAAGCAGCCATAGAAAAG c.2520
G V M K S S D E L F N Q F R K A A I E K p.840
. . . . . . g.60223
GAAGTAAAAGCTCGGACACAGGAACTCATACGGAAGCATTTGGAACAAAATACAAAGGAA c.2580
E V K A R T Q E L I R K H L E Q N T K E p.860
. . | 18 . . . . g.60782
CTAAAAGCATCTCAAGAAAATCAGAG | GGATCTTGGGAATGGATTGACTGTAGAATCTTTT c.2640
L K A S Q E N Q R | D L G N G L T V E S F p.880
. . . . . . g.60842
TCAAATAAAATACAAAACAAGTGCTCTGGAGAAGAGCAGAAAGAACATCAGCAGTCATCA c.2700
S N K I Q N K C S G E E Q K E H Q Q S S p.900
. . . . . . g.60902
GAAGCTCAAGATAAATCCAAACTCTGGCTTCTCAAAGACCGTGATTTAGCAAGGCAGAAA c.2760
E A Q D K S K L W L L K D R D L A R Q K p.920
. . | 19. . . . g.69868
GAACAAGAGAGGAGGAGGAGAGAAGCA | ATGGTGGGTACCATTGATATGACCCTTCAAAGT c.2820
E Q E R R R R E A | M V G T I D M T L Q S p.940
. . . g.69904
GACATTATGACAATGTTTGAAAACAACTTTGATTAA c.2856
D I M T M F E N N F D X p.951
. . . . . . g.69964
aactcagtttttaaattaaccatcaacttaaaatgaatggtaaaagatcaaaatgcatat c.*60
. . . . . . g.70024
ggtaaaatgattgctttcagataacaagataccaatcttatattgtattttgactgctct c.*120
. . . g.70058
aaaatgattaaacagttttcacttacatttttaa c.*154
(downstream sequence)
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