(used for variant description)
(last modified July 21, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_012160.4 in the FBXL4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033903.1, covering FBXL4 transcript NM_012160.4.
(upstream sequence)
. . . g.4998
ctcctccccggctccgccccgcctccccggg c.-361
. . . . . . g.5058
cccgccgctcctcgcggcctccgcgtcttccttccgggtcgcgctaggccgggcttgcgg c.-301
. . . . . . g.5118
cggttgtgccgcatctagagagtcggggagccgcccccgcacccaggccttctcgcgctg c.-241
. . . . . | 02 g.25161
cctggtcgctggtgaagcccgcggcgcgcgcctctcccggaccctgcagg | gtaaaagaat c.-181
. . . . . . g.25221
gtcacatgtcagcatttgtacctgaagtcagcatgcaaagttcagggtacctggatgaat c.-121
. . . . . | 03. g.25925
gccaacttttgcatttcccatgtgtatcctgtgaccattctatctggg | aacatccttcaa c.-61
. . . . . . g.25985
agagttcatgcatcttactgaggacacctgaccttttgaagcttcataattcacatctag c.-1
. . . . . . g.26045
ATGTCACCGGTCTTTCCCATGTTAACAGTTCTGACCATGTTTTATTATATATGCCTTCGG c.60
M S P V F P M L T V L T M F Y Y I C L R p.20
. . . . . . g.26105
CGCCGAGCCAGGACAGCTACAAGAGGAGAAATGATGAACACCCATAGAGCTATAGAATCA c.120
R R A R T A T R G E M M N T H R A I E S p.40
. . . . . . g.26165
AACAGCCAGACTTCCCCTCTCAATGCAGAGGTAGTCCAGTATGCCAAAGAAGTAGTGGAT c.180
N S Q T S P L N A E V V Q Y A K E V V D p.60
. . . . . . g.26225
TTCAGTTCCCATTATGGAAGTGAGAATAGTATGTCCTATACTATGTGGAATTTGGCTGGT c.240
F S S H Y G S E N S M S Y T M W N L A G p.80
. . . . . . g.26285
GTACCAAATGTATTCCCAAGTTCTGGTGACTTTACTCAGACAGCTGTGTTTCGAACTTAT c.300
V P N V F P S S G D F T Q T A V F R T Y p.100
. . . . . . g.26345
GGGACATGGTGGGATCAGTGTCCTAGTGCTTCCTTGCCATTCAAGAGGACGCCACCTAAT c.360
G T W W D Q C P S A S L P F K R T P P N p.120
. . . . . . g.26405
TTTCAGAGCCAGGACTATGTGGAACTTACTTTTGAACAACAGGTGTATCCTACAGCTGTA c.420
F Q S Q D Y V E L T F E Q Q V Y P T A V p.140
. . . . . . g.26465
CATGTTCTAGAAACCTATCATCCCGGAGCAGTCATTAGAATTCTCGCTTGTTCTGCAAAT c.480
H V L E T Y H P G A V I R I L A C S A N p.160
. . . | 04 . . . g.35282
CCTTATTCCCCAAATCCACCAGCTGAAGTAAG | ATGGGAGATTCTTTGGTCAGAGAGACCT c.540
P Y S P N P P A E V R | W E I L W S E R P p.180
. . . . . . g.35342
ACGAAGGTGAATGCTTCCCAAGCTCGCCAGTTTAAACCTTGTATTAAGCAGATAAATTTC c.600
T K V N A S Q A R Q F K P C I K Q I N F p.200
. . . . . . g.35402
CCCACAAATCTTATACGACTGGAAGTAAATAGTTCTCTTCTGGAATATTACACTGAATTA c.660
P T N L I R L E V N S S L L E Y Y T E L p.220
. . . . . . g.35462
GATGCAGTTGTGCTACATGGTGTGAAGGACAAGCCAGTGCTTTCTCTCAAGACTTCACTT c.720
D A V V L H G V K D K P V L S L K T S L p.240
. . . . . . g.35522
ATTGACATGAATGATATAGAAGATGATGCCTATGCAGAAAAGGATGGTTGTGGAATGGAC c.780
I D M N D I E D D A Y A E K D G C G M D p.260
. . . . . . g.35582
AGTCTTAACAAAAAGTTTAGCAGTGCTGTCCTCGGGGAAGGGCCAAATAATGGGTATTTT c.840
S L N K K F S S A V L G E G P N N G Y F p.280
. | 05 . . . . g.47345
GATAAACTACCTTATGAG | CTTATTCAGCTGATTCTGAATCATCTTACACTACCAGACCTG c.900
D K L P Y E | L I Q L I L N H L T L P D L p.300
. . . . . . g.47405
TGTAGATTAGCACAGACTTGCAAACTACTGAGCCAGCATTGCTGTGATCCTCTGCAATAC c.960
C R L A Q T C K L L S Q H C C D P L Q Y p.320
. . . . . . g.47465
ATCCACCTCAATCTGCAACCATACTGGGCAAAACTAGATGACACTTCTCTGGAATTTCTA c.1020
I H L N L Q P Y W A K L D D T S L E F L p.340
. . . . . . g.47525
CAGTCTCGCTGCACTCTTGTCCAGTGGCTTAATTTATCTTGGACTGGCAATAGAGGCTTC c.1080
Q S R C T L V Q W L N L S W T G N R G F p.360
. . | 06 . . . . g.53529
ATCTCTGTTGCAGGATTTAGCAG | GTTTCTGAAGGTTTGTGGATCCGAATTAGTACGCCTT c.1140
I S V A G F S R | F L K V C G S E L V R L p.380
. . . . . . g.53589
GAATTGTCTTGCAGCCACTTTCTTAATGAAACTTGCTTAGAAGTTATTTCTGAGATGTGT c.1200
E L S C S H F L N E T C L E V I S E M C p.400
. . . . . . g.53649
CCAAATCTACAGGCCTTAAATCTCTCCTCCTGTGATAAGCTACCACCTCAAGCTTTCAAC c.1260
P N L Q A L N L S S C D K L P P Q A F N p.420
. . . . . | 07. g.72352
CACATTGCCAAGTTATGCAGCCTTAAACGACTTGTTCTCTATCGAACAAAAGTAGAG | CAA c.1320
H I A K L C S L K R L V L Y R T K V E | Q p.440
. . . . . . g.72412
ACAGCACTGCTCAGCATTTTGAACTTCTGTTCAGAGCTTCAGCACCTCAGTTTAGGCAGT c.1380
T A L L S I L N F C S E L Q H L S L G S p.460
| 08 . . . . . g.77297
TGTGTCATG | ATTGAAGACTATGATGTGATAGCTAGCATGATAGGAGCCAAGTGTAAAAAA c.1440
C V M | I E D Y D V I A S M I G A K C K K p.480
. . . . . . g.77357
CTCCGGACCCTGGATCTGTGGAGATGTAAGAATATTACTGAGAATGGAATAGCAGAACTG c.1500
L R T L D L W R C K N I T E N G I A E L p.500
. . . . . . g.77417
GCTTCTGGGTGTCCACTACTGGAGGAGCTTGACCTTGGCTGGTGCCCAACTCTGCAGAGC c.1560
A S G C P L L E E L D L G W C P T L Q S p.520
. . . . . . g.77477
AGCACCGGGTGCTTCACCAGACTGGCACACCAGCTCCCAAACTTGCAAAAACTCTTTCTT c.1620
S T G C F T R L A H Q L P N L Q K L F L p.540
. . . . . . g.77537
ACAGCTAATAGATCTGTGTGTGACACAGACATTGATGAATTGGCATGTAATTGTACCAGG c.1680
T A N R S V C D T D I D E L A C N C T R p.560
. . | 09 . . . . g.78570
TTACAGCAGCTGGACATATTAG | GAACAAGAATGGTAAGTCCGGCATCCTTAAGAAAACTC c.1740
L Q Q L D I L G | T R M V S P A S L R K L p.580
. . . . . . g.78630
CTGGAATCTTGTAAAGATCTTTCTTTACTTGATGTGTCCTTCTGTTCGCAGATTGATAAC c.1800
L E S C K D L S L L D V S F C S Q I D N p.600
. . . . . . g.78690
AGAGCTGTGCTAGAACTGAATGCAAGCTTTCCAAAAGTGTTCATAAAAAAGAGCTTTACT c.1860
R A V L E L N A S F P K V F I K K S F T p.620
g.78696
CAGTGA c.1866
Q X p.621
. . . . . . g.78756
cttaatatatgttctgtattaaaattaatgtgctttgttggggtttaattttgggattgg c.*60
. . . . . . g.78816
ttttgggttttgtttttagttgttttaatggtaagaattaagacatttgtagattttaaa c.*120
. . . . . . g.78876
gaaaaatatgaaattgtccattaaatcaagtaaaaatgtgcacaaatgttttcataaaat c.*180
. . . . . . g.78936
actgcaagcacttctcttcaagaatatgagtggatattatttttaccttatgttaatcag c.*240
. . . . . . g.78996
tgatatgctttagtcaataatatgattgataaaagaataacatggaatcatgctaactta c.*300
. . . . . . g.79056
ttttcaaaggaacactgagcaataaagtatcgtggcatttatgcaaaaaaaaaagttaat c.*360
. . . . . . g.79116
tttttacaccttcatgtaaggatgtcttattaagcctgtgacctggcaagtgttttgttt c.*420
. . . . . . g.79176
ggtatgtacaaaatggtcagagctagttggagaatgagacatgcttttccagctgtttgg c.*480
. . . . . . g.79236
ttatttctctggattaactgttcaactggaaaatttttagtttttctagccaggtgtggt c.*540
. g.79249
ggcacacacttgt c.*553
(downstream sequence)
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