(used for variant description)
(last modified March 22, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_025133.4 in the FBXO11 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008397.1, covering FBXO11 transcript NM_025133.4.
(upstream sequence)
. . . . . g.22010
atcatagcaataagatttgtaaaacattgcaatggctgaaaaactgtctaacag c.-61
. . . . | 02 . g.70926
gaaattttaagtgttattccaaagaagaacaagcctaaaa | atgatgatgtgcctgcagat c.-1
. . . . . . g.70986
ATGGTTGCAGAAGAATCAGGTCCTGGTGCACAAAATAGTCCATACCAACTTCGTAGAAAA c.60
M V A E E S G P G A Q N S P Y Q L R R K p.20
. . . . | 03 . g.71187
ACTCTTTTGCCGAAAAGAACAGCGTGTCCCACAAAGAACAGTATGGAG | GGCGCCTCAACT c.120
T L L P K R T A C P T K N S M E | G A S T p.40
. . . . . . g.71247
TCAACTACAGAAAACTTTGGTCATCGTGCAAAACGTGCAAGAGTGTCTGGAAAATCACAA c.180
S T T E N F G H R A K R A R V S G K S Q p.60
. | 04 . . . . . g.71722
GATCTATCAG | CAGCACCTGCTGAACAGTATCTTCAGGAGAAACTGCCAGATGAAGTGGTT c.240
D L S A | A P A E Q Y L Q E K L P D E V V p.80
. . . . . . g.71782
CTAAAAATCTTCTCTTACTTGCTGGAACAGGATCTTTGTAGAGCAGCTTGTGTATGTAAA c.300
L K I F S Y L L E Q D L C R A A C V C K p.100
. . . | 05 . . . g.74699
CGCTTCAGTGAACTTGCTAATGATCCAATTTTGTG | GAAACGATTATATATGGAAGTATTT c.360
R F S E L A N D P I L W | K R L Y M E V F p.120
. . . . . . g.74759
GAATATACTCGCCCTATGATGCATCCTGAACCTGGAAAATTCTACCAGATTAATCCAGAA c.420
E Y T R P M M H P E P G K F Y Q I N P E p.140
. . . . | 06 . . g.75819
GAGTATGAACATCCAAATCCCTGGAAAGAGAGTTTCCAGCAGTTG | TATAAAGGTGCACAT c.480
E Y E H P N P W K E S F Q Q L | Y K G A H p.160
. . . . . . g.75879
GTAAAGCCAGGATTTGCTGAACATTTCTACAGTAACCCTGCAAGATATAAAGGAAGAGAA c.540
V K P G F A E H F Y S N P A R Y K G R E p.180
| 07 . . . . . g.76015
AATATGTTG | TATTATGATACTATTGAAGATGCCCTTGGTGGGGTACAAGAGGCTCATTTT c.600
N M L | Y Y D T I E D A L G G V Q E A H F p.200
. . . . . . g.76075
GATGGACTTATCTTTGTTCATTCTGGAATATATACTGATGAATGGATATATATTGAATCT c.660
D G L I F V H S G I Y T D E W I Y I E S p.220
. . | 08 . . . . g.77643
CCAATCACCATGATTGGTGCAG | CACCTGGGAAAGTGGCAGACAAAGTTATAATTGAAAAC c.720
P I T M I G A A | P G K V A D K V I I E N p.240
. . . . . . g.77703
ACTAGAGATTCAACCTTCGTTTTTATGGAAGGCTCTGAAGATGCTTATGTTGGATATATG c.780
T R D S T F V F M E G S E D A Y V G Y M p.260
| 09 . . . . . g.77846
ACAATAAGG | TTTAACCCTGATGACAAATCTGCACAACACCACAATGCACACCACTGCTTA c.840
T I R | F N P D D K S A Q H H N A H H C L p.280
. . . . . . g.77906
GAGATTACAGTAAATTGTAGCCCTATTATTGATCACTGTATCATCCGAAGTACATGTACA c.900
E I T V N C S P I I D H C I I R S T C T p.300
| 10 . . . . . . g.78056
G | TTGGTTCTGCAGTATGTGTTAGTGGTCAAGGAGCATGTCCCACCATCAAGCACTGTAAC c.960
V | G S A V C V S G Q G A C P T I K H C N p.320
. . . . | 11 . g.78201
ATCAGTGACTGTGAAAATGTTGGACTATATATAACAGATCATGCACAG | GGAATATATGAG c.1020
I S D C E N V G L Y I T D H A Q | G I Y E p.340
. . . . . . g.78261
GATAATGAAATTTCCAATAATGCGTTAGCTGGGATTTGGGTTAAAAATCATGGAAACCCA c.1080
D N E I S N N A L A G I W V K N H G N P p.360
. . . . . . g.78321
ATTATTAGACGGAATCATATTCATCATGGACGTGATGTTGGTGTGTTCACATTTGATCAT c.1140
I I R R N H I H H G R D V G V F T F D H p.380
| 12 . . . . . . g.87369
GGCATG | GGTTACTTTGAAAGTTGCAATATACACAGAAATAGGATAGCAGGCTTTGAAGTA c.1200
G M | G Y F E S C N I H R N R I A G F E V p.400
. . . . . . g.87429
AAAGCCTATGCTAACCCTACAGTGGTTCGATGTGAAATTCACCATGGGCAGACTGGAGGA c.1260
K A Y A N P T V V R C E I H H G Q T G G p.420
. . . . . . g.87489
ATATATGTCCATGAAAAAGGAAGAGGACAATTCATAGAGAATAAAATCTATGCAAACAAC c.1320
I Y V H E K G R G Q F I E N K I Y A N N p.440
. . . . | 13 . . g.88388
TTTGCAGGTGTATGGATTACCTCAAATAGTGACCCAACAATAAG | GGGAAATTCTATATTT c.1380
F A G V W I T S N S D P T I R | G N S I F p.460
. . . . . . g.88448
AATGGAAATCAAGGAGGAGTTTACATCTTTGGTGATGGACGAGGCCTTATTGAAGGAAAT c.1440
N G N Q G G V Y I F G D G R G L I E G N p.480
. | 14 . . . . . g.90269
GACATTTATG | GCAATGCATTAGCAGGAATTCAAATTAGGACAAACAGTTGTCCAATTGTT c.1500
D I Y G | N A L A G I Q I R T N S C P I V p.500
. . . . | 15 . . g.91612
CGGCATAACAAAATTCATGATGGCCAGCATGGTGGGATTTATGTG | CATGAAAAGGGACAA c.1560
R H N K I H D G Q H G G I Y V | H E K G Q p.520
. . . . . . g.91672
GGAGTAATAGAAGAGAATGAAGTTTATAGTAACACTCTAGCTGGAGTCTGGGTGACAACT c.1620
G V I E E N E V Y S N T L A G V W V T T p.540
. . . . | 16 . g.91823
GGCAGCACTCCAGTACTGAGAAGAAACCGGATACACAGTGGCAAGCAG | GTTGGTGTTTAT c.1680
G S T P V L R R N R I H S G K Q | V G V Y p.560
. . . . . . g.91883
TTTTATGACAATGGACATGGAGTGCTAGAAGACAATGATATCTATAATCATATGTATTCA c.1740
F Y D N G H G V L E D N D I Y N H M Y S p.580
. | 17 . . . . . g.96854
GGGGTTCAGATAAG | GACTGGAAGCAACCCCAAAATTAGACGCAACAAAATCTGGGGAGGA c.1800
G V Q I R | T G S N P K I R R N K I W G G p.600
. . . | 18 . . . g.97327
CAGAATGGTGGAATTCTAGTTTATAATTCTG | GTCTAGGCTGTATAGAAGACAATGAAATA c.1860
Q N G G I L V Y N S G | L G C I E D N E I p.620
. . . . . . g.97387
TTTGACAATGCAATGGCTGGAGTCTGGATTAAGACAGATAGTAATCCTACACTAAGAAGA c.1920
F D N A M A G V W I K T D S N P T L R R p.640
. . . . . | 19 . g.100254
AATAAAATCCATGATGGAAGAGATGGTGGCATCTGTATATTTAATGGGGGTCGAG | GTCTC c.1980
N K I H D G R D G G I C I F N G G R G | L p.660
. . . . . . g.100314
CTTGAAGAAAATGATATTTTCAGGAATGCTCAAGCAGGTGTTCTCATCAGCACTAATAGT c.2040
L E E N D I F R N A Q A G V L I S T N S p.680
. . . . | 20 . . g.100982
CATCCAATCTTAAGGAAAAACAGAATATTTGATGGATTTGCCGCAG | GTATTGAAATTACA c.2100
H P I L R K N R I F D G F A A G | I E I T p.700
. . . . . . g.101042
AATCACGCAACTGCAACACTAGAAGGCAATCAGATTTTTAACAACCGGTTTGGAGGCTTA c.2160
N H A T A T L E G N Q I F N N R F G G L p.720
. . . | 21 . . . g.101435
TTTTTAGCATCTGGTGTTAATGTGACAATGAAAG | ATAACAAAATAATGAACAATCAAGAT c.2220
F L A S G V N V T M K D | N K I M N N Q D p.740
. . . . . . g.101495
GCCATAGAAAAGGCTGTTAGTAGAGGCCAATGTTTATATAAAATATCAAGTTATACCAGC c.2280
A I E K A V S R G Q C L Y K I S S Y T S p.760
. . | 22 . . . . g.102285
TATCCCATGCATGATTTCTACAG | ATGTCATACTTGTAACACCACAGATCGAAATGCCATA c.2340
Y P M H D F Y R | C H T C N T T D R N A I p.780
. . . . . . g.102345
TGTGTGAACTGCATTAAGAAGTGCCATCAGGGACATGATGTAGAGTTTATTAGACATGAT c.2400
C V N C I K K C H Q G H D V E F I R H D p.800
| 23 . . . . . . g.102486
AG | GTTTTTCTGTGACTGTGGTGCTGGAACACTGTCTAATCCTTGTACATTAGCTGGTGAG c.2460
R | F F C D C G A G T L S N P C T L A G E p.820
. . . . . . g.102546
CCTACACATGATACAGATACACTATATGACTCTGCTCCACCTATAGAATCTAATACATTG c.2520
P T H D T D T L Y D S A P P I E S N T L p.840
. g.102558
CAGCACAACTGA c.2532
Q H N X p.843
. . . . . . g.102618
attccttccctaaagaaaaagtcctgccattgtaacatcataacttaaaacacttttttg c.*60
. . . . . . g.102678
gaagaagatttaaaatatttgcccatgctacaggaagagactgtattaaaaatggataca c.*120
. . . . . . g.102738
caaggtcagttgacactatgaagctcaagctaccaaaaagaaagtggcaatatattgact c.*180
. . . . . . g.102798
caggatctcaaagctgggtgttttagcattactgtgtaaagacttgaagggacagaagtg c.*240
. . . . . . g.102858
aagaaaataagctgcaattttgtacagataccaacttctgaaaagctggtgtttttacaa c.*300
. . . . . . g.102918
ctagcattgaatgcagtccaatttgcagtagtaatcttcaatagacaagcagctttgttg c.*360
. . . . . . g.102978
ctgcctttatggacatgggtaccaattgcttttgtaatatggtaaaaatgtgagctagca c.*420
. . . . . . g.103038
cttctgcgttccttttgattttttttttttaacatgtattcagattgagaaatatgattt c.*480
. . . . . . g.103098
taatgctttaatctcatgtagtttgtttttaatttcaagcaaaatcttactgtacttgaa c.*540
. . . . . . g.103158
tgtgccctgttttgttagcacacctagacttgctgtaactgtactcatgtcccagtatgt c.*600
. . . . . . g.103218
acgttctttctatgaaagagaaaacactaatcttaaattatatccagcaatgtttctggt c.*660
. . . . . . g.103278
atcctttaagaaaagttaagactattatttccttcccttccctgtgcagcattcaaaatc c.*720
. . . . . . g.103338
acccctagaaaaagtgagtgttttaatgagacttcctaggaagggatgcactgtaaaaca c.*780
. . . . . . g.103398
aaagtattcttgtaactcagttttgtgaaaggtaaaaaactactatgttttaagtacact c.*840
. . . . . . g.103458
ttagaaagtctcttcaaaacaaacagtcctgtatttgaactctgttcatagttttttttt c.*900
. . . . . . g.103518
gaacagtttagacaaaactgctggaaattaaaccaatttcctgcattaagctgagacaag c.*960
. . . . . . g.103578
tatatatacagccctatacagtttcatagcttttcctcccccatttatgtgtattggtga c.*1020
. . . . . . g.103638
cagtgggtataaaacagcctgaaagtgtatgcatgtaccataacatctagacttaatata c.*1080
. . . . . . g.103698
ttgtggagtattcaataaccattatgtagaaggtagataagaattaaaagggtttaattt c.*1140
. . . . . g.103756
cctagaaagaaaatggaaaaatggtcatttttaaaaaataaagtttattagatcataa c.*1198
(downstream sequence)
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