(used for variant description)
(last modified June 8, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_003588.3 in the CUL4B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000023.10, covering CUL4B transcript NM_003588.3.
(upstream sequence)
. g.5017
actacccaattgtgaag c.-421
. . . . . . g.5077
acacaatccctccccagcagttcagtttagaaactgccagtcttggtatagaacaaccta c.-361
. . . . . . g.5137
ggcttatctgtttaagtcccataggtagtattattagagaataacccaggctttgggaac c.-301
. . . . . . g.5197
tgtataactctgagatcgtttgaaattttcgttttgtttttcttttggctccaaccaggc c.-241
. . . . . . g.5257
ctctgttgttagactaatggggtttcccctgcagagattggtcagccctgcagtctatca c.-181
. . . . . . g.5317
tcccggaaggtgttaaatacacatgaaagccagcctcggcgggcagaacctagcccgccg c.-121
. . . . . . g.5377
aaagggcgggcattgctaaagtgttttcaaaaggtcttcccaatcctctgctttagacag c.-61
. . . . . | 02 . g.6212
ctcggaccttagatagaagaacacaacggatcctccagtgactgacg | acccaaaggacgg c.-1
. . . . . . g.6272
ATGATGTCACAGTCATCTGGATCAGGAGATGGGAATGATGATGAGGCTACTACCTCTAAA c.60
M M S Q S S G S G D G N D D E A T T S K p.20
| 03. . . . . . g.20257
GACGGTG | GTTTTTCTTCCCCCAGTCCCTCAGCTGCTGCTGCTGCTCAGGAGGTCAGATCT c.120
D G G | F S S P S P S A A A A A Q E V R S p.40
. . . . . . g.20317
GCCACTGATGGTAATACCAGCACCACTCCGCCCACCTCTGCCAAGAAGAGAAAGTTAAAC c.180
A T D G N T S T T P P T S A K K R K L N p.60
. . . . . . g.20377
AGCAGCAGCAGTAGCAGCAGTAACAGTAGTAACGAGAGAGAAGACTTTGATTCCACCTCT c.240
S S S S S S S N S S N E R E D F D S T S p.80
. . . . . . g.20437
TCCTCCTCTTCCACTCCTCCTTTACAACCCAGGGATTCGGCATCCCCTTCAACCTCGTCC c.300
S S S S T P P L Q P R D S A S P S T S S p.100
. . . . . . g.20497
TTCTGCCTGGGGGTTTCAGTGGCTGCTTCCAGCCACGTACCGATACAGAAGAAGCTGCGT c.360
F C L G V S V A A S S H V P I Q K K L R p.120
. . . . . . g.20557
TTTGAAGACACCCTGGAGTTTGTAGGGTTTGATGCGAAGATGGCTGAGGAATCCTCCTCC c.420
F E D T L E F V G F D A K M A E E S S S p.140
. . . . . . g.20617
TCCTCCTCCTCATCTTCACCAACTGCTGCAACATCTCAGCAGCAGCAACTTAAAAATAAG c.480
S S S S S S P T A A T S Q Q Q Q L K N K p.160
. . . . . . g.20677
AGTATATTAATCTCTTCTGTGGCTTCGGTGCATCATGCAAACGGCCTAGCCAAATCTTCT c.540
S I L I S S V A S V H H A N G L A K S S p.180
. . . . . . g.20737
ACCACCGTCTCTAGCTTTGCTAACAGCAAACCTGGCTCTGCTAAGAAGTTAGTGATCAAG c.600
T T V S S F A N S K P G S A K K L V I K p.200
. | 04 . . . . . g.22840
AACTTTAAAG | ATAAGCCTAAATTACCAGAAAACTACACAGATGAAACCTGGCAAAAACTG c.660
N F K D | K P K L P E N Y T D E T W Q K L p.220
. . . . . . g.22900
AAAGAAGCAGTGGAAGCTATTCAGAATAGTACTTCAATTAAGTACAATTTAGAAGAACTC c.720
K E A V E A I Q N S T S I K Y N L E E L p.240
| 05 . . . . . . g.33644
TACCAG | GCTGTAGAAAATCTCTGTTCTTACAAGATTTCTGCAAACTTGTACAAACAGCTG c.780
Y Q | A V E N L C S Y K I S A N L Y K Q L p.260
. . . . . | 06 . g.34223
AGACAGATCTGCGAAGATCACATCAAAGCACAGATTCATCAATTCAGAGA | GGATTCATTG c.840
R Q I C E D H I K A Q I H Q F R E | D S L p.280
. . . . . . g.34283
GATAGCGTTCTTTTTTTAAAGAAGATTGATAGATGCTGGCAAAACCATTGCAGACAAATG c.900
D S V L F L K K I D R C W Q N H C R Q M p.300
| 07 . . . . . . g.35372
| ATCATGATCAGGAGCATTTTTTTGTTTCTGGATAGAACTTACGTTCTTCAGAATTCAATG c.960
| I M I R S I F L F L D R T Y V L Q N S M p.320
. | 08 . . . . . g.36232
CTACCCTCCATTTG | GGACATGGGACTGGAGTTATTTAGGGCTCATATTATAAGTGATCAG c.1020
L P S I W | D M G L E L F R A H I I S D Q p.340
. . . . . . g.36292
AAAGTGCAGAATAAGACAATTGATGGCATTCTTCTCTTGATTGAGAGGGAAAGGAATGGT c.1080
K V Q N K T I D G I L L L I E R E R N G p.360
. . . . . | 09. g.36629
GAAGCAATTGATAGAAGTTTACTTCGAAGCCTTTTAAGCATGCTGTCTGATTTGCAA | ATT c.1140
E A I D R S L L R S L L S M L S D L Q | I p.380
. . . . . . g.36689
TATCAAGATTCTTTTGAACAACGATTTTTGGAAGAAACTAACCGGCTCTATGCAGCTGAA c.1200
Y Q D S F E Q R F L E E T N R L Y A A E p.400
. . | 10. . . . g.37053
GGCCAAAAATTAATGCAAGAAAGAGAG | GTTCCTGAATATCTACATCATGTTAACAAACGT c.1260
G Q K L M Q E R E | V P E Y L H H V N K R p.420
. . . . . | 11 . g.37806
CTAGAAGAAGAAGCAGACAGACTTATTACTTACTTAGATCAGACCACCCA | GAAGTCATTA c.1320
L E E E A D R L I T Y L D Q T T Q | K S L p.440
. . . . . | 12 g.39111
ATTGCTACTGTAGAAAAACAACTTCTAGGTGAACACTTAACAGCAATTCTTCAGAAAG | GT c.1380
I A T V E K Q L L G E H L T A I L Q K G | p.460
. . . . . . g.39171
TTAAATAACCTCCTTGATGAAAACCGAATTCAAGATTTGTCTCTTCTGTATCAGCTCTTC c.1440
L N N L L D E N R I Q D L S L L Y Q L F p.480
. . . . . | 13. g.40270
AGTAGAGTTCGAGGTGGAGTTCAGGTTCTTTTGCAGCAGTGGATCGAATATATCAAG | GCA c.1500
S R V R G G V Q V L L Q Q W I E Y I K | A p.500
. . . . . . g.40330
TTTGGCAGCACTATTGTAATTAATCCTGAAAAAGATAAAACCATGGTTCAAGAATTGCTG c.1560
F G S T I V I N P E K D K T M V Q E L L p.520
. . . . . . g.40390
GATTTTAAAGATAAGGTTGACCATATAATTGATATCTGCTTTCTGAAGAATGAGAAATTT c.1620
D F K D K V D H I I D I C F L K N E K F p.540
. . . . . . g.40450
ATCAATGCCATGAAAGAAGCATTTGAAACGTTCATTAACAAAAGACCAAATAAACCAGCT c.1680
I N A M K E A F E T F I N K R P N K P A p.560
. | 14 . . . . . g.41507
GAACTTATAG | CTAAGTATGTAGATTCAAAACTTCGTGCAGGCAACAAAGAAGCTACAGAT c.1740
E L I A | K Y V D S K L R A G N K E A T D p.580
. . . . . | 15 . g.42064
GAAGAACTTGAGAAAATGTTGGATAAAATTATGATCATATTTAGATTTATCTATG | GCAAG c.1800
E E L E K M L D K I M I I F R F I Y G | K p.600
. . . . . . g.42124
GATGTTTTTGAGGCCTTCTATAAGAAAGATTTAGCCAAGCGCCTGTTAGTCGGAAAGAGT c.1860
D V F E A F Y K K D L A K R L L V G K S p.620
. . . . | 16 . . g.42634
GCATCTGTAGATGCTGAAAAATCAATGCTGTCCAAACTTAAACATG | AATGCGGAGCTGCT c.1920
A S V D A E K S M L S K L K H E | C G A A p.640
. . . . . . g.42694
TTCACCAGCAAACTTGAAGGAATGTTTAAAGACATGGAACTTTCTAAAGACATCATGATT c.1980
F T S K L E G M F K D M E L S K D I M I p.660
. | 17 . . . . . g.43843
CAGTTCAAACAG | TATATGCAGAATCAGAATGTTCCGGGAAATATTGAGTTAACTGTGAAT c.2040
Q F K Q | Y M Q N Q N V P G N I E L T V N p.680
. . . . . . g.43903
ATCCTGACAATGGGCTATTGGCCGACATATGTGCCTATGGAAGTTCATTTACCACCAGAG c.2100
I L T M G Y W P T Y V P M E V H L P P E p.700
| 18 . . . . . . g.44946
| ATGGTAAAACTTCAGGAGATTTTCAAGACATTTTACCTAGGCAAACATAGTGGCAGGAAA c.2160
| M V K L Q E I F K T F Y L G K H S G R K p.720
. . . . . | 19 . g.46249
CTTCAGTGGCAGTCAACCCTAGGACACTGTGTGTTAAAAGCAGAATTTAAAGAG | GGTAAA c.2220
L Q W Q S T L G H C V L K A E F K E | G K p.740
. . . . . . g.46309
AAGGAACTCCAGGTCTCTCTTTTTCAAACACTGGTGCTGCTAATGTTTAATGAGGGAGAG c.2280
K E L Q V S L F Q T L V L L M F N E G E p.760
. . . . | 20 . . g.48255
GAGTTCAGTTTAGAAGAGATCAAGCAGGCAACTGGAATAG | AGGATGGAGAGTTAAGGAGA c.2340
E F S L E E I K Q A T G I E | D G E L R R p.780
. . . . . . g.48315
ACACTGCAGTCATTAGCCTGTGGCAAAGCTAGAGTTCTGGCGAAAAATCCAAAGGGCAAA c.2400
T L Q S L A C G K A R V L A K N P K G K p.800
. . . . . . g.48375
GACATTGAAGATGGTGACAAGTTCATTTGTAATGATGATTTCAAACATAAACTTTTCAGG c.2460
D I E D G D K F I C N D D F K H K L F R p.820
. . . | 21 . . . g.50602
ATAAAGATCAATCAAATCCAGATGAAAGAAACG | GTTGAAGAACAAGCAAGCACTACAGAA c.2520
I K I N Q I Q M K E T | V E E Q A S T T E p.840
. . . . . . g.50662
AGAGTATTTCAAGACAGACAGTATCAAATTGATGCTGCAATTGTTCGAATTATGAAGATG c.2580
R V F Q D R Q Y Q I D A A I V R I M K M p.860
. . . . . . g.50722
AGAAAGACACTTAGCCACAATCTCCTTGTTTCAGAAGTGTACAACCAGTTGAAATTTCCA c.2640
R K T L S H N L L V S E V Y N Q L K F P p.880
| 22 . . . . . . g.54027
GTAAAG | CCTGCTGATCTTAAGAAGAGAATAGAATCTTTAATTGACCGGGACTACATGGAA c.2700
V K | P A D L K K R I E S L I D R D Y M E p.900
. . . . g.54069
AGAGATAAAGAAAATCCAAACCAGTACAACTATATTGCATAG c.2742
R D K E N P N Q Y N Y I A X p.913
. . . . . . g.54129
aatgttggccttgcagcatttggtgtcatatgcagtagccagtggataaactaacctgtt c.*60
. . . . . . g.54189
gattcaatattatttgactccttttttactaccgatgaccaaatgaagcagtgtaattaa c.*120
. . . . . . g.54249
tggaaatagttgagtggactttttctcagtggttaacatgcccattttaaagagtaatac c.*180
. . . . . . g.54309
ttacctttaagaagaatgttgttgaactctttgcatgttatttagtatgatgtgcagaaa c.*240
. . . . . . g.54369
acacttaagaacgtacctggtcttcatgaattcctctttggaactgggaaagagatccct c.*300
. . . . . . g.54429
gtggctattaaaaaggggggagggttcttacacaccattaattatgaagcaaaaggttta c.*360
. . . . . . g.54489
tttgcttaaaatgtcatttaaagatacttaaactgcatgcaaactttatttactgtacag c.*420
. . . . . . g.54549
agttctggatgtatttatcaaatagaaaaaccacccttgacttggttgttcacccgtttt c.*480
. . . . . . g.54609
gtgatttcccttgaaaagagaaatgaattgtcatagctattgatattttactaggtgatg c.*540
. . . . . . g.54669
ttctgttacactgaaagggatgttttttaaaaaaaattatttggaaacaagttttcaagt c.*600
. . . . . . g.54729
agggggacagttgcttacataatatcttgtatattcacatcctaaaaattttcatttatg c.*660
. . . . . . g.54789
agtatgggatgtgtgtatatggcttagccccaagttaactgtgctgattaacaagtactt c.*720
. . . . . . g.54849
ataaaaatagctaaagtagaaaattaatgatcagttgtactagaggaacatcatagaaga c.*780
. . . . . . g.54909
gaaaaatccaactctttatattaaaaatgaatacaataagaaaattgcaaaagagaccaa c.*840
. . . . . . g.54969
aatgaacgtgttttgtaaattgttacaggagcaaaaactttgcaactagttttcaacata c.*900
. . . . . . g.55029
ctttagactttaaatgttgtttggacagttttgtcttcaacttggaccaattgtagattg c.*960
. . . . . . g.55089
ttacaggcttcctaggatttagcattcctattttctctaccaaagttttttttagaagca c.*1020
. . . . . . g.55149
tcccaactcttctctttgttgataaataagcctttcctgtcatcttcattttaacttgct c.*1080
. . . . . . g.55209
aaaaccctagatacaaaggtcctccctcatttttcccacagagcccctgtttgggaattt c.*1140
. . . . . . g.55269
gagattctgtgtcatgctggttttcctttcagaattgcttgaaatcgagttctcttagcc c.*1200
. . . . . . g.55329
actggacacctagttttcaggagaatgtcccaagattgtttatatatacaaaatggcaaa c.*1260
. . . . . . g.55389
agtactgtttttcgaattgataattcaagcaaaggcttctctttactgtcactgattttt c.*1320
. . . . . . g.55449
ttttgtttttattttgtttccttgtttctatttccttgaagctttgaagggaggagaagc c.*1380
. . . . . . g.55509
agaaaattttgtttatgtttgttaaaaatcagaactacttaatgctttttgccacagcat c.*1440
. . . . . . g.55569
atttccttgcctgttggagccgttaggaagattacctatgtcctaatcttcaacctgaga c.*1500
. . . . . . g.55629
agatttttgactcttgtgtctactgttgattgtttgcttgagttctcaaagacctgtggc c.*1560
. . . . . . g.55689
caggtattttaaaaagtcgtctatttctttctagttgcatcaacttgcacactggtgtct c.*1620
. . . . . . g.55749
aactatatgtggtattcggaacttgtaattcttattgagcagccattgcctatattttct c.*1680
. . . . . . g.55809
cagctcctcactgatttctttatatgagctcagctgacaagcaaatgcagctattttgtt c.*1740
. . . . . . g.55869
taccctctcttcataccggaccatcaacaacagtgttctaactcatccctgatggtctgt c.*1800
. . . . . . g.55929
gagatgtagactattacacaagattcaagttactcgtaagcaacttttagatagagttgg c.*1860
. . . . . . g.55989
tcctgttaggaggagactcttgatgtcaccttcagtatcttgaaagcgggtcccctcccc c.*1920
. . . . . . g.56049
gaggctcttaattctttgaaaacttgatgctgtttcagctgaaaaattagcaagactgtt c.*1980
. . . . . . g.56109
aaaaaaaaaaagttgaggggagctgtttaagaaactgaaaagtaattgcaaactacattg c.*2040
. . . . . . g.56169
gataattgtgactttcagttgttgttctgtatcagttgaatttttgtgctcttttccctg c.*2100
. . . . . . g.56229
tgtacgtggtggttctatttttctccaataaaacttttatttaaaaaaagtttctagaga c.*2160
. g.56241
agatctttaaaa c.*2172
(downstream sequence)
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