(used for variant description)
(last modified September 5, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_001123385.1 in the BCOR gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008880.1, covering BCOR transcript NM_001123385.1.
(upstream sequence)
. . . . . g.84915
gggagtcgagtgagcgcggcgccgcgagcgggctgcgggcagccggggaccg c.-241
. . . . . . g.84975
caaactttgctgctcgccgcgcttctccggcccggctccttctccgctcgttaacgtcgc c.-181
. . . . . . g.85035
caaccccccccacccctcatatctctctccacccacccaaccgccccccgctccttctcg c.-121
. . . . . . g.85095
ccgcctcgagtccgcttgggggaaaacttcaaagagccggatcgcaggctccctgcctac c.-61
. . | 02 . . . g.104400
tcccccaccggggatttcag | actagacgcttgaagcaaagctgccatcccagaagacgac c.-1
. . . . . . g.104460
ATGCTCTCAGCAACCCCCCTGTATGGGAACGTTCACAGCTGGATGAACAGCGAGAGGGTC c.60
M L S A T P L Y G N V H S W M N S E R V p.20
. . | 03 . . . . g.105831
CGCATGTGTGGGGCGAGCGAAGACAG | GAAAATCCTTGTAAATGATGGTGACGCTTCAAAA c.120
R M C G A S E D R | K I L V N D G D A S K p.40
. . . . | 04 . . g.107164
GCCAGACTGGAACTGAGGGAAGAGAATCCCTTGAACCACAACGTG | GTGGATGCGAGCACG c.180
A R L E L R E E N P L N H N V | V D A S T p.60
. . . . . . g.107224
GCCCATAGGATCGATGGCCTGGCAGCACTGAGCATGGACCGCACTGGCCTGATCCGGGAA c.240
A H R I D G L A A L S M D R T G L I R E p.80
. . . . . . g.107284
GGGCTGCGGGTCCCGGGAAACATCGTCTATTCTAGCTTGTGTGGACTGGGCTCAGAGAAA c.300
G L R V P G N I V Y S S L C G L G S E K p.100
. . . . . . g.107344
GGTCGGGAGGCTGCCACAAGCACTCTAGGTGGCCTTGGGTTTTCTTCGGAAAGAAATCCA c.360
G R E A A T S T L G G L G F S S E R N P p.120
. . . . . . g.107404
GAGATGCAGTTCAAACCGAATACACCCGAGACAGTGGAGGCTTCTGCCGTCTCTGGAAAA c.420
E M Q F K P N T P E T V E A S A V S G K p.140
. . . . . . g.107464
CCCCCAAATGGCTTCAGTGCTATATACAAAACACCGCCTGGAATACAAAAAAGTGCTGTA c.480
P P N G F S A I Y K T P P G I Q K S A V p.160
. . . . . . g.107524
GCCACAGCAGAAGCGCTGGGCTTGGACAGGCCTGCCAGCGACAAACAGAGCCCTCTCAAC c.540
A T A E A L G L D R P A S D K Q S P L N p.180
. . . . . . g.107584
ATCAATGGTGCTAGTTATCTGCGGCTGCCCTGGGTCAATCCTTACATGGAGGGTGCCACG c.600
I N G A S Y L R L P W V N P Y M E G A T p.200
. . . . . . g.107644
CCAGCCATCTACCCTTTCCTCGACTCGCCAAATAAGTATTCACTGAACATGTACAAGGCC c.660
P A I Y P F L D S P N K Y S L N M Y K A p.220
. . . . . . g.107704
TTGCTACCTCAGCAGTCCTACAGCTTGGCCCAGCCGCTGTATTCTCCAGTCTGCACCAAT c.720
L L P Q Q S Y S L A Q P L Y S P V C T N p.240
. . . . . . g.107764
GGGGAGCGCTTTCTCTACCTGCCGCCACCTCACTACGTCGGTCCCCACATCCCATCGTCC c.780
G E R F L Y L P P P H Y V G P H I P S S p.260
. . . . . . g.107824
TTGGCATCACCCATGAGGCTCTCGACACCTTCGGCCTCCCCAGCCATCCCGCCTCTCGTC c.840
L A S P M R L S T P S A S P A I P P L V p.280
. . . . . . g.107884
CATTGCGCAGACAAAAGCCTCCCGTGGAAGATGGGCGTCAGCCCTGGGAATCCTGTTGAT c.900
H C A D K S L P W K M G V S P G N P V D p.300
. . . . . . g.107944
TCCCACGCCTATCCTCACATCCAGAACAGTAAGCAGCCCAGGGTTCCCTCTGCCAAGGCG c.960
S H A Y P H I Q N S K Q P R V P S A K A p.320
. . . . . . g.108004
GTCACCAGTGGCCTGCCGGGGGACACAGCTCTCCTGTTGCCCCCCTCGCCTCGGCCGTCA c.1020
V T S G L P G D T A L L L P P S P R P S p.340
. . . . . . g.108064
CCCCGAGTCCACCTTCCCACCCAGCCTGCTGCAGACACCTACTCGGAGTTCCACAAGCAC c.1080
P R V H L P T Q P A A D T Y S E F H K H p.360
. . . . . . g.108124
TATGCCAGGATCTCCACCTCTCCTTCAGTTGCCCTGTCAAAGCCATACATGACAGTTAGC c.1140
Y A R I S T S P S V A L S K P Y M T V S p.380
. . . . . . g.108184
AGCGAGTTCCCCGCGGCCAGGCTCTCCAATGGCAAGTATCCCAAGGCTCCGGAAGGGGGC c.1200
S E F P A A R L S N G K Y P K A P E G G p.400
. . . . . . g.108244
GAAGGTGCCCAGCCAGTGCCCGGGCATGCCCGGAAGACAGCGGTTCAAGACAGAAAAGAT c.1260
E G A Q P V P G H A R K T A V Q D R K D p.420
. . . . . . g.108304
GGCAGCTCACCTCCTCTGTTGGAGAAGCAGACCGTTACCAAAGACGTCACAGATAAGCCA c.1320
G S S P P L L E K Q T V T K D V T D K P p.440
. . . . . . g.108364
CTAGACTTGTCTTCTAAAGTGGTGGATGTAGATGCTTCCAAAGCTGACCACATGAAAAAG c.1380
L D L S S K V V D V D A S K A D H M K K p.460
. . . . . . g.108424
ATGGCTCCCACGGTCCTGGTTCACAGCAGGGCTGGAAGTGGCTTAGTGCTCTCCGGAAGT c.1440
M A P T V L V H S R A G S G L V L S G S p.480
. . . . . . g.108484
GAGATTCCGAAAGAAACACTATCTCCTCCAGGAAATGGTTGTGCTATCTATAGATCTGAA c.1500
E I P K E T L S P P G N G C A I Y R S E p.500
. . . . . . g.108544
ATCATCAGCACTGCTCCCTCATCCTGGGTGGTGCCCGGGCCAAGTCCTAACGAAGAGAAC c.1560
I I S T A P S S W V V P G P S P N E E N p.520
. . . . . . g.108604
AATGGCAAAAGCATGTCGCTGAAAAACAAGGCATTGGACTGGGCGATACCACAGCAGCGG c.1620
N G K S M S L K N K A L D W A I P Q Q R p.540
. . . . . . g.108664
AGTTCATCATGCCCGCGCATGGGCGGCACCGATGCTGTCATCACTAACGTTTCAGGGTCA c.1680
S S S C P R M G G T D A V I T N V S G S p.560
. . . . . . g.108724
GTGTCGAGTGCAGGCCGCCCAGCCTCCGCATCACCCGCCCCCAATGCCAATGCAGATGGC c.1740
V S S A G R P A S A S P A P N A N A D G p.580
. . . . . . g.108784
ACCAAAACCAGCAGGAGCTCTGTAGAAACCACACCATCCGTTATTCAGCACGTGGGCCAG c.1800
T K T S R S S V E T T P S V I Q H V G Q p.600
. . . . . . g.108844
CCCCCGGCCACTCCTGCCAAGCACAGTAGCAGCACCAGCAGCAAGGGCGCCAAAGCCAGC c.1860
P P A T P A K H S S S T S S K G A K A S p.620
. . . . . . g.108904
AACCCAGAACCGAGTTTCAAAGCAAACGAGAACGGCCTTCCACCAAGCTCTATATTTCTG c.1920
N P E P S F K A N E N G L P P S S I F L p.640
. . . . . . g.108964
TCTCCAAATGAGGCATTCAGGTCCCCACCAATTCCCTACCCCAGGAGTTACCTCCCTTAC c.1980
S P N E A F R S P P I P Y P R S Y L P Y p.660
. . . . . . g.109024
CCAGCCCCTGAGGGCATTGCTGTAAGTCCCCTCTCCTTACATGGCAAAGGACCTGTCTAC c.2040
P A P E G I A V S P L S L H G K G P V Y p.680
. . . . . . g.109084
CCTCACCCAGTTTTGTTACCCAATGGCAGTCTGTTTCCTGGGCACCTTGCCCCAAAGCCT c.2100
P H P V L L P N G S L F P G H L A P K P p.700
. . . . . . g.109144
GGGCTGCCCTATGGGCTTCCCACCGGCCGTCCAGAGTTTGTGACCTACCAAGATGCCCTG c.2160
G L P Y G L P T G R P E F V T Y Q D A L p.720
. . . . . . g.109204
GGGTTGGGCATGGTGCATCCCATGTTGATACCACACACGCCCATAGAGATTACTAAAGAG c.2220
G L G M V H P M L I P H T P I E I T K E p.740
. . . . . . g.109264
GAGAAACCAGAGAGGAGATCCCGGTCCCATGAGAGAGCCCGTTACGAGGACCCAACCCTC c.2280
E K P E R R S R S H E R A R Y E D P T L p.760
. . . . . . g.109324
CGGAATCGGTTTTCCGAGATTTTGGAAACTAGCAGCACCAAGTTACATCCAGATGTCCCC c.2340
R N R F S E I L E T S S T K L H P D V P p.780
. . . . . . g.109384
ACCGACAAGAACCTAAAGCCGAACCCCAACTGGAATCAAGGGAAGACTGTTGTCAAAAGC c.2400
T D K N L K P N P N W N Q G K T V V K S p.800
. . . . . . g.109444
GACAAGCTTGTCTACGTAGACCTTCTCCGAGAAGAACCAGATGCTAAAACTGACACAAAC c.2460
D K L V Y V D L L R E E P D A K T D T N p.820
. . . . . . g.109504
GTGTCCAAACCCAGCTTTGCAGCAGAGAGTGTTGGCCAGAGCGCTGAGCCCCCCAAGCCC c.2520
V S K P S F A A E S V G Q S A E P P K P p.840
. . . . . . g.109564
TCAGTTGAGCCGGCCCTGCAGCAGCACCGTGATTTCATCGCCCTGAGAGAGGAGTTGGGG c.2580
S V E P A L Q Q H R D F I A L R E E L G p.860
. . . . . . g.109624
CGCATCAGTGACTTCCACGAAACTTATACTTTCAAACAGCCAGTCTTCACCGTAAGCAAG c.2640
R I S D F H E T Y T F K Q P V F T V S K p.880
. . . . . . g.109684
GACAGTGTTCTGGCAGGTACCAACAAAGAGAACCTAGGGTTGCCAGTCTCGACTCCATTC c.2700
D S V L A G T N K E N L G L P V S T P F p.900
. . . . . . g.109744
CTGGAGCCACCTCTGGGGAGCGATGGCCCTGCTGTAACTTTTGGTAAAACCCAAGAGGAT c.2760
L E P P L G S D G P A V T F G K T Q E D p.920
. . . . . . g.109804
CCCAAACCATTTTGTGTGGGCAGTGCCCCACCAAGTGTGGATGTGACCCCCACCTATACC c.2820
P K P F C V G S A P P S V D V T P T Y T p.940
. . . . . . g.109864
AAAGATGGAGCTGATGAGGCTGAATCAAATGATGGCAAAGTTCTGAAACCGAAGCCATCT c.2880
K D G A D E A E S N D G K V L K P K P S p.960
. . . . . . g.109924
AAGCTGGCAAAGAGAATCGCCAACTCAGCGGGTTACGTGGGTGACCGATTCAAATGTGTC c.2940
K L A K R I A N S A G Y V G D R F K C V p.980
. . . . . | 05. g.110642
ACTACCGAACTGTATGCAGATTCCAGTCAGCTCAGCCGGGAGCAACGGGCATTGCAG | ATG c.3000
T T E L Y A D S S Q L S R E Q R A L Q | M p.1000
. . . . . | 06 . g.111179
GAAGGATTACAAGAGGACAGTATTTTATGTCTACCCGCTGCTTACTGTGAG | CGTGCAATG c.3060
E G L Q E D S I L C L P A A Y C E | R A M p.1020
. . . . . . g.111239
ATGCGCTTCTCAGAGTTGGAGATGAAAGAAAGAGAAGGTGGCCACCCAGCAACCAAAGAC c.3120
M R F S E L E M K E R E G G H P A T K D p.1040
. . . . . . g.111299
TCCGAGATGTGCAAATTCAGCCCAGCCGACTGGGAAAGGTTGAAAGGAAATCAGGACAAA c.3180
S E M C K F S P A D W E R L K G N Q D K p.1060
. . . . . | 07 g.117732
AAGCCAAAGTCGGTCACCCTGGAGGAGGCCATTGCAGAACAGAACGAAAGTGAGAGAT | GC c.3240
K P K S V T L E E A I A E Q N E S E R C | p.1080
. . . . . . g.117792
GAGTATAGTGTTGGAAACAAGCACCGTGATCCCTTTGAAGCCCCAGAGGACAAAGATCTT c.3300
E Y S V G N K H R D P F E A P E D K D L p.1100
. . . . . . g.117852
CCTGTGGAGAAGTACTTTGTGGAGAGGCAGCCTGTGAGCGAGCCTCCCGCAGACCAGGTG c.3360
P V E K Y F V E R Q P V S E P P A D Q V p.1120
. . . . . . g.117912
GCCTCGGACATGCCTCACAGCCCCACCCTCCGGGTGGACAGGAAACGCAAAGTCTCAGGT c.3420
A S D M P H S P T L R V D R K R K V S G p.1140
. . . . . . g.117972
GACAGCAGCCACACTGAGACCACTGCGGAGGAGGTGCCAGAGGACCCTCTGCTGAAAGCC c.3480
D S S H T E T T A E E V P E D P L L K A p.1160
. . | 08 . . . . g.118415
AAACGCCGACGAGTCTCTAAAG | ATGACTGGCCTGAGAGGGAAATGACAAACAGTTCCTCT c.3540
K R R R V S K D | D W P E R E M T N S S S p.1180
. . . . . . g.118475
AACCACTTAGAAGACCCACATTATAGTGAGCTGACCAACCTGAAGGTGTGCATTGAATTA c.3600
N H L E D P H Y S E L T N L K V C I E L p.1200
. . . . . . g.118535
ACAGGGCTCCATCCTAAAAAACAACGCCACTTGCTGCACCTTAGAGAACGATGGGAGCAG c.3660
T G L H P K K Q R H L L H L R E R W E Q p.1220
. . . . . . g.118595
CAGGTGTCGGCAGCAGATGGCAAACCTGGCCGGCAAAGCAGGAAGGAAGTGACCCAGGCC c.3720
Q V S A A D G K P G R Q S R K E V T Q A p.1240
. . . . . . g.118655
ACTCAGCCTGAGGCCATTCCTCAGGGGACTAACATCACTGAAGAGAAACCTGGCAGGAAA c.3780
T Q P E A I P Q G T N I T E E K P G R K p.1260
. . . . . . g.118715
AGGGCAGAGGCCAAAGGCAACAGAAGCTGGTCGGAAGAGTCTCTTAAACCCAGTGACAAT c.3840
R A E A K G N R S W S E E S L K P S D N p.1280
| 09. . . . . . g.119311
GAACAAG | GCTTGCCTGTGTTCTCCGGCTCTCCGCCCATGAAGAGTCTTTCATCCACCAGT c.3900
E Q G | L P V F S G S P P M K S L S S T S p.1300
. . . . . . g.119371
GCAGGCGGCAAAAAGCAGGCTCAGCCAAGCTGCGCACCAGCCTCCAGGCCGCCTGCCAAA c.3960
A G G K K Q A Q P S C A P A S R P P A K p.1320
. . . . . . g.119431
CAGCAGAAAATTAAAGAAAACCAGAAGACAGATGTGCTGTGTGCAGACGAAGAAGAGGAT c.4020
Q Q K I K E N Q K T D V L C A D E E E D p.1340
. . . . . . g.119491
TGCCAGGCTGCCTCCCTGCTGCAGAAATACACCGACAACAGCGAGAAGCCATCCGGGAAG c.4080
C Q A A S L L Q K Y T D N S E K P S G K p.1360
. . . . . . g.119551
AGACTGTGCAAAACCAAACACTTGATCCCTCAGGAGTCCAGGCGGGGATTGCCACTGACA c.4140
R L C K T K H L I P Q E S R R G L P L T p.1380
. . . | 10 . . . g.119963
GGGGAATACTACGTGGAGAATGCCGATGGCAAG | GTGACTGTCCGGAGATTCAGAAAGCGG c.4200
G E Y Y V E N A D G K | V T V R R F R K R p.1400
. . . . . . g.120023
CCGGAGCCCAGTTCGGACTATGATCTGTCACCAGCCAAGCAGGAGCCAAAGCCCTTCGAC c.4260
P E P S S D Y D L S P A K Q E P K P F D p.1420
. . . . . . g.120083
CGCTTGCAGCAACTGCTACCAGCCTCCCAGTCCACACAGCTGCCATGCTCAAGTTCCCCT c.4320
R L Q Q L L P A S Q S T Q L P C S S S P p.1440
. . . . . . g.120143
CAGGAGACCACCCAGTCTCGCCCTATGCCGCCGGAAGCACGGAGACTTATTGTCAATAAG c.4380
Q E T T Q S R P M P P E A R R L I V N K p.1460
. . . . | 11 . g.125020
AACGCTGGCGAGACCCTTCTGCAGCGGGCAGCCAGGCTTGGCTATGAG | GAAGTGGTCCTG c.4440
N A G E T L L Q R A A R L G Y E | E V V L p.1480
. . . . . . g.125080
TACTGCTTAGAGAACAAGATTTGTGATGTAAATCATCGGGACAACGCAGGTTACTGCGCC c.4500
Y C L E N K I C D V N H R D N A G Y C A p.1500
. . . . . . g.125140
CTGCATGAAGCTTGTGCTAGGGGCTGGCTCAACATTGTGCGACACCTCCTTGAATATGGC c.4560
L H E A C A R G W L N I V R H L L E Y G p.1520
. . . | 12 . . . g.126841
GCTGATGTCAACTGTAGTGCCCAGGATGGAACCAG | GCCTCTGCACGATGCTGTTGAGAAC c.4620
A D V N C S A Q D G T R | P L H D A V E N p.1540
. . . . . . g.126901
GATCACTTGGAAATTGTCCGACTACTTCTCTCTTATGGTGCTGACCCCACCTTGGCTACG c.4680
D H L E I V R L L L S Y G A D P T L A T p.1560
. . . . . . g.126961
TACTCAGGTAGAACCATCATGAAAATGACCCACAGTGAACTTATGGAAAAGTTCTTAACA c.4740
Y S G R T I M K M T H S E L M E K F L T p.1580
| 13 . . . . . . g.128055
G | ATTATTTAAATGACCTCCAGGGTCGCAATGATGATGACGCCAGTGGCACTTGGGACTTC c.4800
D | Y L N D L Q G R N D D D A S G T W D F p.1600
. | 14 . . . . g.128328
TATGGCAGCTCTGTTTGTG | AACCAGATGATGAAAGTGGCTATGATGTTTTAGCCAACCCC c.4860
Y G S S V C E | P D D E S G Y D V L A N P p.1620
. . . . . . g.128388
CCAGGACCAGAAGACCAGGATGATGATGACGATGCCTATAGCGATGTGTTTGAATTTGAA c.4920
P G P E D Q D D D D D A Y S D V F E F E p.1640
. . . . . | 15 . g.129933
TTTTCAGAGACCCCCCTCTTACCGTGTTATAACATCCAAGTATCTGTGGCTCAGGG | GCCA c.4980
F S E T P L L P C Y N I Q V S V A Q G | P p.1660
. . . . . . g.129993
CGAAACTGGCTACTGCTTTCGGATGTCCTTAAGAAATTGAAAATGTCCTCCCGCATATTT c.5040
R N W L L L S D V L K K L K M S S R I F p.1680
. . . . . . g.130053
CGCTGCAATTTTCCAAACGTGGAAATTGTCACCATTGCAGAGGCAGAATTTTATCGGCAG c.5100
R C N F P N V E I V T I A E A E F Y R Q p.1700
. . . . . . g.130113
GTTTCTGCAAGTCTCTTGTTCTCTTGCTCCAAAGACCTGGAAGCCTTCAACCCTGAAAGT c.5160
V S A S L L F S C S K D L E A F N P E S p.1720
. . . . . . g.130173
AAGGAGCTGTTAGATCTGGTGGAATTCACGAACGAAATTCAGACTCTGCTGGGCTCCTCT c.5220
K E L L D L V E F T N E I Q T L L G S S p.1740
. . . . g.130221
GTAGAGTGGCTCCACCCCAGTGATCTGGCCTCAGACAACTACTGGTGA c.5268
V E W L H P S D L A S D N Y W X p.1755
. . . . . . g.130281
gcaagctggacccaccatgtacagtgtgttatagtgttaatccttgtgcatatgtgtcat c.*60
. . . . . . g.130341
aatacaactatttctgtaaagaaaggacactattacatatgaaaatatctcttctttata c.*120
. . . . . . g.130401
taagagaaattactccagtcagaaggacttagaaacatgtttttttccttttaaactttt c.*180
. . . . . . g.130461
aagtcagtttttatgaagttgttataatgtttctttacttttcaatgcacacatgctttg c.*240
. . . . . . g.130521
ggatacgtttgtttttacttggaacatttgtttcttttcttttttaaggagaaaaaaaaa c.*300
. . . . . . g.130581
tgagtaaaaggagctccacactttgacttaatttcatacaaagctctgatgacaggccat c.*360
. . . . . . g.130641
gactgtagagtggtcagaactgtgtggttggtttgagggagcgaattcggggaaggcact c.*420
. . . . . . g.130701
tggtgatataactttgttttgtttacagagtacctgctcgggccaggtaaatgctattgg c.*480
. . . . . . g.130761
atgtaatccagtagtgtgtaatataaattcaaaccatatccacacacaacaactaattgt c.*540
. . . . . . g.130821
atgaaacttttatatcctaatttaaaagctgtgaaattagttttcacgcatcaaaccgga c.*600
. . . . . . g.130881
ttgtttatatgtttaaacattttatgctcttatttaaagaagactttgagctattttttt c.*660
. . . . . . g.130941
ctgtaccctgtaaaatattgaaaactaacataatatgttgaggttgcttggaaatgtaca c.*720
. . . . . . g.131001
taaaactaaaattttctgaatcgtgtgtttatgtttgaaatctgtgttttaactttgtaa c.*780
. . . . . . g.131061
gtaaattctctgcctttgtatttatattttacaaaaattttcttaaaaggcaataaaact c.*840
. . g.131084
gttgaggaaaggagaaaattgaa c.*863
(downstream sequence)
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