(used for variant description)
(last modified August 11, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_012300.2 in the FBXW11 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009275.2, covering FBXW11 transcript NM_012300.2.
(upstream sequence)
. g.5011
gtagtcgtggc c.-361
. . . . . . g.5071
gctctcgaggccctgccatgagcaagctcttaactcttcaggtctgcacgtcctacgccc c.-301
. . . . . . g.5131
accgtccagtgctactctcagctcggagttcagcttcgggctgccaagagccagcaacct c.-241
. . . . . . g.5191
ggtgtcagaggctcggtcccacaacgctctgcgggccgcggcgcctgctgggaggtgtag c.-181
. . . . . . g.5251
tccccgatctgcgtactgcgttcgccgagggggagggcggagctgccggcggcccgggcg c.-121
. . . . . . g.5311
ggctggcagctagagtgggtgcgatagccgcctccgcctctgccgcctccgccgtcgcct c.-61
. . . . . . g.5371
cctccgcccgggccgttcgctgctgcgcggggagagcgaggcggggccgccggggccgcc c.-1
. . . . | 02 . . g.54190
ATGGAGCCCGACTCGGTGATTGAGGACAAGACCATCGAGCTCATG | TGTTCTGTGCCAAGG c.60
M E P D S V I E D K T I E L M | C S V P R p.20
. . . . . . g.54250
TCTTTGTGGCTAGGCTGCGCCAACCTGGTAGAGAGCATGTGCGCACTGAGTTGCCTGCAG c.120
S L W L G C A N L V E S M C A L S C L Q p.40
. . | 03. . . . g.101109
AGCATGCCCAGTGTCAGATGTCTCCAG | ATAAGTAATGGAACATCATCTGTGATCGTCTCC c.180
S M P S V R C L Q | I S N G T S S V I V S p.60
. . . . . . g.101169
AGAAAGAGGCCATCAGAAGGAAACTATCAAAAAGAAAAAGACTTGTGTATTAAATATTTT c.240
R K R P S E G N Y Q K E K D L C I K Y F p.80
. . . . . . g.101229
GACCAGTGGTCTGAATCAGATCAAGTGGAATTTGTGGAACATCTTATTTCACGAATGTGT c.300
D Q W S E S D Q V E F V E H L I S R M C p.100
. . . . . . g.101289
CATTATCAGCATGGACATATTAACTCTTACCTGAAGCCCATGTTGCAGCGGGACTTTATT c.360
H Y Q H G H I N S Y L K P M L Q R D F I p.120
. | 04 . . . . . g.111820
ACCGCTTTACCAG | AGCAAGGCTTAGATCACATAGCAGAAAACATTCTTTCGTACCTGGAT c.420
T A L P E | Q G L D H I A E N I L S Y L D p.140
. . . . . . g.111880
GCCAGGTCTCTGTGTGCAGCAGAGCTGGTATGTAAAGAATGGCAGCGAGTGATCTCAGAA c.480
A R S L C A A E L V C K E W Q R V I S E p.160
. . . . . . g.111940
GGAATGCTTTGGAAGAAGCTGATTGAACGAATGGTACGCACTGATCCCCTATGGAAAGGA c.540
G M L W K K L I E R M V R T D P L W K G p.180
. . | 05 . . . . g.112819
CTTTCAGAAAGAAGAGGGTG | GGATCAGTACCTGTTTAAAAACAGACCCACAGATGGCCCT c.600
L S E R R G W | D Q Y L F K N R P T D G P p.200
. . . . . | 06 . g.120278
CCAAATTCATTTTATAGGTCATTATACCCAAAGATTATCCAGGATATAGAG | ACTATAGAA c.660
P N S F Y R S L Y P K I I Q D I E | T I E p.220
. . . . . . g.120338
TCTAACTGGCGGTGTGGACGACACAACTTGCAGAGGATTCAGTGCCGCTCTGAAAATAGT c.720
S N W R C G R H N L Q R I Q C R S E N S p.240
. . . . . . g.120398
AAAGGTGTCTACTGTTTACAGTACGATGATGAAAAAATTATCAGTGGCCTACGAGATAAT c.780
K G V Y C L Q Y D D E K I I S G L R D N p.260
| 07 . . . . . g.133795
TCTATTAAG | ATATGGGATAAAACCAGCCTGGAATGTTTGAAAGTGTTAACAGGACACACA c.840
S I K | I W D K T S L E C L K V L T G H T p.280
. . . . . . g.133855
GGCTCTGTCCTCTGTCTGCAGTATGATGAGCGTGTCATTGTAACTGGCTCTTCAGATTCT c.900
G S V L C L Q Y D E R V I V T G S S D S p.300
| 08 . . . . . g.135391
ACGGTGAG | AGTGTGGGATGTGAACACGGGTGAAGTTCTTAACACATTGATCCACCACAAT c.960
T V R | V W D V N T G E V L N T L I H H N p.320
. . . . . . g.135451
GAGGCTGTATTGCACTTACGCTTCAGCAATGGACTGATGGTGACCTGTTCCAAGGACCGC c.1020
E A V L H L R F S N G L M V T C S K D R p.340
. . . . . . g.135511
TCCATTGCTGTGTGGGACATGGCTTCTGCGACCGACATCACTTTACGCCGTGTCCTGGTT c.1080
S I A V W D M A S A T D I T L R R V L V p.360
. . . . . . g.135571
GGCCACCGGGCTGCCGTCAATGTAGTAGACTTTGACGACAAGTACATCGTGTCTGCCTCT c.1140
G H R A A V N V V D F D D K Y I V S A S p.380
. | 09 . . . . g.138925
GGTGACAGGACCATCAAA | GTCTGGAGCACGAGCACCTGTGAATTTGTTCGTACTCTCAAT c.1200
G D R T I K | V W S T S T C E F V R T L N p.400
. . . . . . g.138985
GGGCACAAGCGGGGCATTGCCTGTCTCCAGTACAGGGATCGCCTGGTTGTTAGTGGATCA c.1260
G H K R G I A C L Q Y R D R L V V S G S p.420
. | 10. . . . . g.141058
TCAGATAATACCATTAG | GCTCTGGGATATTGAATGTGGTGCCTGTTTAAGAGTCCTAGAG c.1320
S D N T I R | L W D I E C G A C L R V L E p.440
. . . . . . g.141118
GGACATGAAGAATTGGTCCGATGCATCCGGTTTGATAACAAGAGGATTGTCAGTGGGGCC c.1380
G H E E L V R C I R F D N K R I V S G A p.460
| 11 . . . . . g.142118
TATGATGG | GAAAATTAAAGTTTGGGACTTGCAAGCTGCTCTTGACCCTCGAGCCCCAGCA c.1440
Y D G | K I K V W D L Q A A L D P R A P A p.480
. . | 12. . . . g.143110
AGCACATTGTGTTTGCGCACATTGGTG | GAACATTCTGGACGTGTGTTTCGGCTCCAGTTT c.1500
S T L C L R T L V | E H S G R V F R L Q F p.500
. . . . . . g.143170
GATGAGTTTCAGATCATCAGCAGCTCCCATGATGACACTATTTTGATTTGGGATTTCTTA c.1560
D E F Q I I S S S H D D T I L I W D F L p.520
. . . . . . g.143230
AATGTGCCTCCCAGTGCCCAGAATGAGACCCGTTCTCCCTCCAGAACATACACTTACATC c.1620
N V P P S A Q N E T R S P S R T Y T Y I p.540
g.143239
TCTAGATAA | c.1630
S R X p.542
. . | 13 . . . . g.147807
cagtctgcactttcacccgtttcag | ggttttctagtcttgaactactggctacgtggcta c.*60
. . . . . . g.147867
ccaaatgcctaagggagttcgttcacagctgagttatgaagctggaattggttctagacg c.*120
. . . . . . g.147927
ctgggtagatgcaaagcagcctaactcttcaagtaccgacatttctcacctctgattccg c.*180
. . . . . . g.147987
gctctcctttgagaaggagaccttagcttccccggcttcaagtagaacagaagcccgttt c.*240
. . . . . . g.148047
ccttccctcatcagtgaaaaaatctaatgtttcaaatgtaaattgttcatagaaaaggaa c.*300
. . . . . . g.148107
catagaatctgttttacagaagtaaatcgaccgtcaagagaagacttggcctctaattta c.*360
. . . . . . g.148167
tattgctttgcactttggtttgatattaagaaacagcattcttcttcagtgaaattttgg c.*420
. . . . . . g.148227
gtgccaaacacctacccagaatgtccagggctttcattttcaaaagttagcattctcctt c.*480
. . . . . . g.148287
ttgaccgtccaagtcattatgaattctgacttgttgtattaggaacatgttggacagtgg c.*540
. . . . . . g.148347
aaaattttctctggattgttttagtaatatttttgggattatacttcctttctgtaccaa c.*600
. . . . . . g.148407
tttcttttaatttaaagaactataagtcagttatattatctaccaacaggtaatatagct c.*660
. . . . . . g.148467
ctttcttttattaactgttctctgtcccccaaccatctcctgatatttggtagagtaaca c.*720
. . . . . . g.148527
cctttatacgtgtgcttgcctcctaatttaaaatactgtattcgcatgtagatataatgt c.*780
. . . . . . g.148587
acataacagtttaacctcaaagttgctggagtcagggccccctgtgcttgagacactaat c.*840
. . . . . . g.148647
acagagtgtgttcgcacttagccatgggctgggctcaagaacctgatacctgggttgatg c.*900
. . . . . . g.148707
tggattacctagaacccttcctgcagtattcatacagtgtttttattttgttgttgtcat c.*960
. . . . . . g.148767
tgcgtgtgtgtggtttgtgtgtgtttttaatgagaatcttgttttaaaatgtaatttcta c.*1020
. . . . . . g.148827
aggtttaacaccaaaatgttttatttgttgtggagtatatattatacaatagagaggtac c.*1080
. . . . . . g.148887
cttaaacattttttgttcttattctttttctcataagtactcctgagtacaagtggtcac c.*1140
. . . . . . g.148947
ctcccatagtattcatttggcttcgctgtcaaaaatcattattctgtgcagtcgtggccc c.*1200
. . . . . . g.149007
tgggaaggggaaataagaaggccctgttgacgggctgtcttggctctggaattcatgcat c.*1260
. . . . . . g.149067
cctggccttgccaaggttctggcagggcctgctggtgtgttggagcctgcagggcaggtc c.*1320
. . . . . . g.149127
aggctggttcagaggcccatgctgaggggtgggtgctctgaagtggagtgaagcctcaag c.*1380
. . . . . . g.149187
cccatgaatgccaccccagtcatctctggtgtcagctgctgctgtggccccagcaggttc c.*1440
. . . . . . g.149247
tcaaagctcccaagtcctccctacgacacagcccaaatgtgtaaatggcactgttgccct c.*1500
. . . . . . g.149307
gacagtgcatggaaaggacgttggcatccaattggcactccttctcccttattcaatatt c.*1560
. . . . . . g.149367
aggtttgatttgcccttcgccattgtttccaaagatcaaggaatgtcaataacattttaa c.*1620
. . . . . . g.149427
aggaccaataaacagcctcctataaagtaaacctcttcccgtggaagcacactctactac c.*1680
. . . . . . g.149487
taaagggaaggccctgggctctgatttgtcctttgcattgagaacggtgtggggatcagt c.*1740
. . . . . . g.149547
gtgtgtgtatgtgatttgtttattgagttggctttgcttttttagtttttcttttaaaaa c.*1800
. . . . . . g.149607
taaaatccttccttcccatgttactaaattaatttatgtttttgagaggttgagtctcaa c.*1860
. . . . . . g.149667
agtgtaaacaataaacctccattcataaggtggatgttgtaagcttgatggtggttgtga c.*1920
. . . . . . g.149727
aagtgatttagctttgaccacttttcatcctacagcttcaatatcaaactggttaggaaa c.*1980
. . . . . . g.149787
gcccagggggaagggagggggcaggggaggaggcaattctgaatgaatgaatggattttt c.*2040
. . . . . . g.149847
tgttgtttttgcatgtttaatatagaagttcccctcgttccttgggagatgatggccttt c.*2100
. . . . . . g.149907
gaatatgcagacaacctttgaattgtgcctactaaattatagcaggggactttggcaccc c.*2160
. . . . . . g.149967
aaggagttctgactttctgggattataatagtaattcccagccatactctggactttatt c.*2220
. . . . . . g.150027
ttgctaaccataactgagcaaatgtaaattactgctatattaatgttttaaagcactggg c.*2280
. . . . . . g.150087
atagtctaattctaacttgtaattaattatgtttgccaattatctgtttgaaataaattt c.*2340
. . . . . . g.150147
gtgtctgaacagctattgaaactgttaaattgtacagatattattcatgacagctttgta c.*2400
. . . . . . g.150207
ctgtggaatgtgcttaataaaaaacaaaaaagtttgacttttgtccagtaaattgctaag c.*2460
. . . . . . g.150267
taatgtcaataaatcgagtatgggtattatgcagtgcacctaatctggcttcatgcaatt c.*2520
. . . . . g.150322
gttacttcagctactgattcaaagccaatactcttaataaagtgttgcaatactc c.*2575
(downstream sequence)
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