(used for variant description)
(last modified June 24, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_004656.2 in the BAP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_031859.1, covering BAP1 transcript NM_004656.2.
(upstream sequence)
. . . . . g.5055
gcccgttgtctgtgtgtgggactgaggggccccgggggcggtgggggctcccggt c.-61
. . . . . . g.5115
gggggcagcggtggggagggagggcctggacatggcgctgaggggccgccccgcgggaag c.-1
. . . | 02. . . g.5273
ATGAATAAGGGCTGGCTGGAGCTGGAGAGCGACCCAG | GCCTCTTCACCCTGCTCGTGGAA c.60
M N K G W L E L E S D P G | L F T L L V E p.20
| 03. . . . . . g.5438
GATTTCG | GTGTCAAGGGGGTGCAAGTGGAGGAGATCTACGACCTTCAGAGCAAATGTCAG c.120
D F G | V K G V Q V E E I Y D L Q S K C Q p.40
| 04 . . . . . . g.6445
GG | CCCTGTATATGGATTTATCTTCCTGTTCAAATGGATCGAAGAGCGCCGGTCCCGGCGA c.180
G | P V Y G F I F L F K W I E E R R S R R p.60
. . . . . . g.6505
AAGGTCTCTACCTTGGTGGATGATACGTCCGTGATTGATGATGATATTGTGAATAACATG c.240
K V S T L V D D T S V I D D D I V N N M p.80
. | 05 . . . . . g.6961
TTCTTTGCCCACCAG | CTGATACCCAACTCTTGTGCAACTCATGCCTTGCTGAGCGTGCTC c.300
F F A H Q | L I P N S C A T H A L L S V L p.100
. . . . . . g.7021
CTGAACTGCAGCAGCGTGGACCTGGGACCCACCCTGAGTCGCATGAAGGACTTCACCAAG c.360
L N C S S V D L G P T L S R M K D F T K p.120
. | 06 . . . . . g.7578
GGTTTCAGCCCTGAG | AGCAAAGGATATGCGATTGGCAATGCCCCGGAGTTGGCCAAGGCC c.420
G F S P E | S K G Y A I G N A P E L A K A p.140
. | 07. . . . . g.7720
CATAATAGCCATGCCAG | GCCCGAGCCACGCCACCTCCCTGAGAAGCAGAATGGCCTTAGT c.480
H N S H A R | P E P R H L P E K Q N G L S p.160
. . . . . . g.7780
GCAGTGCGGACCATGGAGGCGTTCCACTTTGTCAGCTATGTGCCTATCACAGGCCGGCTC c.540
A V R T M E A F H F V S Y V P I T G R L p.180
. . . . | 08 . . g.8106
TTTGAGCTGGATGGGCTGAAGGTCTACCCCATTGACCATG | GGCCCTGGGGGGAGGACGAG c.600
F E L D G L K V Y P I D H G | P W G E D E p.200
. . . . . | 09 g.8618
GAGTGGACAGACAAGGCCCGGCGGGTCATCATGGAGCGTATCGGCCTCGCCACTGCAGG | G c.660
E W T D K A R R V I M E R I G L A T A G | p.220
. . . . . . g.8678
GAGCCCTACCACGACATCCGCTTCAACCTGATGGCAGTGGTGCCCGACCGCAGGATCAAG c.720
E P Y H D I R F N L M A V V P D R R I K p.240
. . . . . . g.8738
TATGAGGCCAGGCTGCATGTGCTGAAGGTGAACCGTCAGACAGTACTAGAGGCTCTGCAG c.780
Y E A R L H V L K V N R Q T V L E A L Q p.260
| 10 . . . . . . g.9138
CAG | CTGATAAGAGTAACACAGCCAGAGCTGATTCAGACCCACAAGTCTCAAGAGTCACAG c.840
Q | L I R V T Q P E L I Q T H K S Q E S Q p.280
. . . . . . g.9198
CTGCCTGAGGAGTCCAAGTCAGCCAGCAACAAGTCCCCGCTGGTGCTGGAAGCAAACAGG c.900
L P E E S K S A S N K S P L V L E A N R p.300
. . . | 11 . . . g.9728
GCCCCTGCAGCCTCTGAGGGCAACCACACAG | ATGGTGCAGAGGAGGCGGCTGGTTCATGC c.960
A P A A S E G N H T D | G A E E A A G S C p.320
. . . . . . g.9788
GCACAAGCCCCATCCCACAGCCCTCCCAACAAACCCAAGCTAGTGGTGAAGCCTCCAGGC c.1020
A Q A P S H S P P N K P K L V V K P P G p.340
. . . . . . g.9848
AGCAGCCTCAATGGGGTTCACCCCAACCCCACTCCCATTGTCCAGCGGCTGCCGGCCTTT c.1080
S S L N G V H P N P T P I V Q R L P A F p.360
. . . | 12 . . . g.10431
CTAGACAATCACAATTATGCCAAGTCCCCCATGCAG | GAGGAAGAAGACCTGGCGGCAGGT c.1140
L D N H N Y A K S P M Q | E E E D L A A G p.380
. . . . . . g.10491
GTGGGCCGCAGCCGAGTTCCAGTCCGCCCACCCCAGCAGTACTCAGATGATGAGGATGAC c.1200
V G R S R V P V R P P Q Q Y S D D E D D p.400
. . . . . | 13 . g.11109
TATGAGGATGACGAGGAGGATGACGTGCAGAACACCAACTCTGCCCTTAG | GTATAAGGGG c.1260
Y E D D E E D D V Q N T N S A L R | Y K G p.420
. . . . . . g.11169
AAGGGAACAGGGAAGCCAGGGGCATTGAGCGGTTCTGCTGATGGGCAACTGTCAGTGCTG c.1320
K G T G K P G A L S G S A D G Q L S V L p.440
. . . . . . g.11229
CAGCCCAACACCATCAACGTCTTGGCTGAGAAGCTCAAAGAGTCCCAGAAGGACCTCTCA c.1380
Q P N T I N V L A E K L K E S Q K D L S p.460
. . . . . . g.11289
ATTCCTCTGTCCATCAAGACTAGCAGCGGGGCTGGGAGTCCGGCTGTGGCAGTGCCCACA c.1440
I P L S I K T S S G A G S P A V A V P T p.480
. . . . . . g.11349
CACTCGCAGCCCTCACCCACCCCCAGCAATGAGAGTACAGACACGGCCTCTGAGATCGGC c.1500
H S Q P S P T P S N E S T D T A S E I G p.500
. . . . . . g.11409
AGTGCTTTCAACTCGCCACTGCGCTCGCCTATCCGCTCAGCCAACCCGACGCGGCCCTCC c.1560
S A F N S P L R S P I R S A N P T R P S p.520
. . . . . . g.11469
AGCCCTGTCACCTCCCACATCTCCAAGGTGCTTTTTGGAGAGGATGACAGCCTGCTGCGT c.1620
S P V T S H I S K V L F G E D D S L L R p.540
. . . . . . g.11529
GTTGACTGCATACGCTACAACCGTGCTGTCCGTGATCTGGGTCCTGTCATCAGCACAGGC c.1680
V D C I R Y N R A V R D L G P V I S T G p.560
. . . . | 14 . g.11706
CTGCTGCACCTGGCTGAGGATGGGGTGCTGAGTCCCCTGGCGCTGACAG | AGGGTGGGAAG c.1740
L L H L A E D G V L S P L A L T E | G G K p.580
. . . . . . g.11766
GGTTCCTCGCCCTCCATCAGACCAATCCAAGGCAGCCAGGGGTCCAGCAGCCCAGTGGAG c.1800
G S S P S I R P I Q G S Q G S S S P V E p.600
. . . . . . g.11826
AAGGAGGTCGTGGAAGCCACGGACAGCAGAGAGAAGACGGGGATGGTGAGGCCTGGCGAG c.1860
K E V V E A T D S R E K T G M V R P G E p.620
. . . | 15 . . . g.12152
CCCTTGAGTGGGGAGAAATACTCACCCAAG | GAGCTGCTGGCACTGCTGAAGTGTGTGGAG c.1920
P L S G E K Y S P K | E L L A L L K C V E p.640
. . . . . . g.12212
GCTGAGATTGCAAACTATGAGGCGTGCCTCAAGGAGGAGGTAGAGAAGAGGAAGAAGTTC c.1980
A E I A N Y E A C L K E E V E K R K K F p.660
| 16 . . . . . . g.12376
AAG | ATTGATGACCAGAGAAGGACCCACAACTACGATGAGTTCATCTGCACCTTTATCTCC c.2040
K | I D D Q R R T H N Y D E F I C T F I S p.680
. | 17 . . . . . g.12616
ATGCTGGCTCAGGAAG | GCATGCTGGCCAACCTAGTGGAGCAGAACATCTCCGTGCGGCGG c.2100
M L A Q E G | M L A N L V E Q N I S V R R p.700
. . . . . . g.12676
CGCCAAGGGGTCAGCATCGGCCGGCTCCACAAGCAGCGGAAGCCTGACCGGCGGAAACGC c.2160
R Q G V S I G R L H K Q R K P D R R K R p.720
. . . g.12706
TCTCGCCCCTACAAGGCCAAGCGCCAGTGA c.2190
S R P Y K A K R Q X p.729
. . . . . . g.12766
ggactgctggccctgactctgcagcccactcttgccgtgtggccctcaccagggtccttc c.*60
. . . . . . g.12826
cctgccccacttccccttttcccagtattactgaatagtcccagctggagagtccaggcc c.*120
. . . . . . g.12886
ctgggaatgggaggaaccaggccacattccttccatcgtgccctgaggcctgacacggca c.*180
. . . . . . g.12946
gatcagccccatagtgctcaggaggcagcatctggagttggggcacagcgaggtactgca c.*240
. . . . . . g.13006
gcttcctccacagccggctgtggagcagcaggacctggcccttctgcctgggcagcagaa c.*300
. . . . . . g.13066
tatatattttacctatcagagacatctatttttctgggctccaacccaacatgccaccat c.*360
. . . . . . g.13126
gttgacataagttcctacctgactatgctttctctcctaggagctgtcctggtgggccca c.*420
. . . . . . g.13186
ggtccttgtatcatgccacggtcccaactacagggtcctagctgggggcctgggtgggcc c.*480
. . . . . . g.13246
ctgggctctgggccctgctgctctagccccagccaccagcctgtccctgttgtaaggaag c.*540
. . . . . . g.13306
ccaggtcttctctcttcattcctcttaggagagtgccaaactcagggacccagcactggg c.*600
. . . . . . g.13366
ctgggttgggagtagggtgtcccagtggggttggggtgagcaggctgctgggatcccatg c.*660
. . . . . . g.13426
gcctgagcagagcatgtgggaactgttcagtggcctgtgaactgtcttccttgttctagc c.*720
. . . . . . g.13486
caggctgttcaagactgctctccatagcaaggttctagggctcttcgccttcagtgttgt c.*780
. . . . . . g.13546
ggccctagctatgggcctaaattgggctctaggtctctgtccctggcgcttgaggctcag c.*840
. . . . . . g.13606
aagagcctctgtccagcccctcagtattaccatgtctccctctcaggggtagcagagaca c.*900
. . . . . . g.13666
gggttgcttataggaagctggcaccactcagctcttcctgctactccagtttcctcagcc c.*960
. . . . . . g.13726
tctgcaaggcactcagggtgggggacagcaggatcaagacaacccgttggagcccctgtg c.*1020
. . . . . . g.13786
ttccagaggacctgatgccaaggggtaatgggcccagcagtgcctctggagcccaggccc c.*1080
. . . . . . g.13846
caacacagccccatggcctctgccagatggctttgaaaaaggtgatccaagcaggcccct c.*1140
. . . . . . g.13906
ttatctgtacatagtgactgagtggggggtgctggcaagtgtggcagctgcctctgggct c.*1200
. . . . . . g.13966
gagcacagcttgacccctctagcccctgtaaatactggatcaatgaatgaataaaactct c.*1260
. . g.13986
cctaagaatctcctgagaaa c.*1280
(downstream sequence)
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