(used for variant description)
(last modified November 22, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_014780.4 in the CUL7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016205.1, covering CUL7 transcript NM_014780.4.
(upstream sequence)
. . . g.5032
aggaggtgctgcgtcgccaaggtggcatcctc c.-301
. . . . . . g.5092
ggctccgccccggcgctctcccagggcccctagctttccgctgggtcgggcggaaatgag c.-241
. . . . . . g.5152
ccgtggcttttggctggcggagccgctggcagggaccgggccccaccctgccccagtggc c.-181
. . . . . . g.5212
tgccgactcacgcgggtgcagctctgttccgcggaggcacgccccctcccgtctctccgt c.-121
. . . . . . g.5272
ctcgaccccctcgcggggcccaggtggggcccaagtcgccgccagcgtctgtgccgcgtc c.-61
. . . . . . | 02 g.6157
ccttgctctgtgaaggacaggcctcgcgccaggaccccggtggacttctgag | gtgccagg c.-1
. . . . . . g.6217
ATGGTGGGAGAACTCCGCTACAGGGAATTCAGGGTGCCCCTGGGGCCCGGCTTACATGCC c.60
M V G E L R Y R E F R V P L G P G L H A p.20
. . . . . . g.6277
TATCCTGATGAGCTGATCCGCCAGCGCGTGGGCCATGATGGGCATCCTGAGTACCAGATC c.120
Y P D E L I R Q R V G H D G H P E Y Q I p.40
. . . . . . g.6337
CGTTGGCTCATCCTGCGGCGTGGCGATGAGGGGGACGGGGGCTCTGGCCAAGTGGACTGC c.180
R W L I L R R G D E G D G G S G Q V D C p.60
. . . . . . g.6397
AAGGCTGAGCACATCCTGCTGTGGATGTCCAAGGATGAGATCTATGCCAACTGCCACAAG c.240
K A E H I L L W M S K D E I Y A N C H K p.80
. . . . . . g.6457
ATGCTGGGCGAGGATGGCCAGGTCATCGGGCCCTCCCAGGAGTCTGCAGGGGAGGTTGGG c.300
M L G E D G Q V I G P S Q E S A G E V G p.100
. . . . . . g.6517
GCCCTGGACAAATCTGTGCTGGAGGAGATGGAAACCGACGTGAAGTCCCTCATTCAGAGA c.360
A L D K S V L E E M E T D V K S L I Q R p.120
. . . . . . g.6577
GCCCTTCGGCAGCTGGAGGAGTGTGTGGGCACTATCCCTCCTGCTCCTCTACTTCACACT c.420
A L R Q L E E C V G T I P P A P L L H T p.140
. . . . . . g.6637
GTCCACGTGCTCAGCGCCTATGCCAGCATTGAGCCCCTCACTGGAGTATTCAAGGACCCA c.480
V H V L S A Y A S I E P L T G V F K D P p.160
. . . . . . g.6697
AGGGTCCTGGACTTGCTCATGCACATGTTGAGTAGTCCTGATTATCAGATTCGCTGGAGT c.540
R V L D L L M H M L S S P D Y Q I R W S p.180
. . . . | 03 . . g.7202
GCAGGCCGGATGATACAAGCCCTGTCCTCCCATGACGCTG | GGACCCGGACTCAGATCCTT c.600
A G R M I Q A L S S H D A G | T R T Q I L p.200
. . . . . . g.7262
CTGTCACTGAGCCAACAAGAAGCCATTGAGAAACACCTGGATTTTGACAGCCGCTGTGCT c.660
L S L S Q Q E A I E K H L D F D S R C A p.220
. . . . . . g.7322
CTGCTAGCACTGTTTGCACAGGCCACGCTCTCTGAACACCCCATGTCTTTCGAGGGCATT c.720
L L A L F A Q A T L S E H P M S F E G I p.240
. | 04 . . . . . g.7525
CAGCTACCACAG | GTCCCAGGAAGGGTGCTCTTCTCCCTGGTGAAGCGGTATTTGCATGTC c.780
Q L P Q | V P G R V L F S L V K R Y L H V p.260
. . . . . . g.7585
ACCTCGCTCCTGGATCAGCTGAACGACAGTGCTGCGGAGCCAGGAGCCCAGAACACCTCT c.840
T S L L D Q L N D S A A E P G A Q N T S p.280
. . . . . . g.7645
GCTCCTGAGGAGTTGAGTGGGGAGAGGGGTCAACTGGAGCTGGAGTTCAGTATGGCCATG c.900
A P E E L S G E R G Q L E L E F S M A M p.300
. . . . . . g.7705
GGCACCCTGATCTCGGAGCTGGTGCAAGCCATGCGCTGGGACCAGGCCTCAGACAGACCA c.960
G T L I S E L V Q A M R W D Q A S D R P p.320
. . . . . . g.7765
AGGAGCTCAGCACGGTCCCCCGGTTCCATCTTCCAGCCTCAGCTGGCAGATGTGAGCCCA c.1020
R S S A R S P G S I F Q P Q L A D V S P p.340
. . . . . . g.7825
GGGCTCCCCGCTGCCCAGGCTCAGCCCTCCTTCAGGAGGTCAAGACGTTTTCGCCCTCGT c.1080
G L P A A Q A Q P S F R R S R R F R P R p.360
. . . . . . g.7885
TCTGAGTTCGCAAGTGGCAATACCTATGCTTTGTATGTGCGGGACACACTGCAGCCGGGG c.1140
S E F A S G N T Y A L Y V R D T L Q P G p.380
. . . . . . g.7945
ATGCGAGTGCGGATGCTGGATGATTATGAGGAGATCAGTGCCGGGGATGAGGGCGAGTTT c.1200
M R V R M L D D Y E E I S A G D E G E F p.400
. . . | 05 . . . g.8574
CGGCAGAGCAACAACGGTGTGCCTCCTGTGCAG | GTATTTTGGGAGTCAACAGGCCGCACC c.1260
R Q S N N G V P P V Q | V F W E S T G R T p.420
. . . . . . g.8634
TATTGGGTGCACTGGCACATGCTGGAGATCTTGGGCTTTGAGGAAGACATTGAGGACATG c.1320
Y W V H W H M L E I L G F E E D I E D M p.440
. . . . . | 06 . g.8794
GTTGAGGCTGATGAGTACCAAGGGGCAGTGGCCAGTAGAGTCCTGGGTAGAG | CCCTGCCT c.1380
V E A D E Y Q G A V A S R V L G R A | L P p.460
. . . . . . g.8854
GCCTGGCGCTGGAGGCCCATGACAGAACTCTATGCTGTGCCTTATGTGCTGCCTGAGGAT c.1440
A W R W R P M T E L Y A V P Y V L P E D p.480
. . . . . . g.8914
GAGGACACTGAGGAGTGTGAACACCTGACCCTGGCTGAGTGGTGGGAACTCCTCTTCTTC c.1500
E D T E E C E H L T L A E W W E L L F F p.500
. . . . . . g.8974
ATCAAGAAGCTGGATGGACCTGACCATCAGGAGGTTCTCCAGATCCTCCAGGAGAACCTA c.1560
I K K L D G P D H Q E V L Q I L Q E N L p.520
| 07 . . . . . g.9334
GATGGGGAG | ATTCTGGATGATGAGATCCTAGCTGAACTGGCCGTGCCCATAGAATTGGCC c.1620
D G E | I L D D E I L A E L A V P I E L A p.540
. . . . . . g.9394
CAGGACTTGCTGCTGACTCTGCCACAGCGACTCAATGACAGTGCCCTCAGGGACCTGATC c.1680
Q D L L L T L P Q R L N D S A L R D L I p.560
. . . . . . g.9454
AACTGCCATGTCTACAAGAAGTATGGGCCTGAAGCCCTAGCAGGGAACCAAGCCTACCCA c.1740
N C H V Y K K Y G P E A L A G N Q A Y P p.580
. . . . . . g.9514
TCCCTTCTAGAAGCCCAAGAAGATGTCCTCCTGCTAGACGCGCAGGCCCAGGCTAAGGAC c.1800
S L L E A Q E D V L L L D A Q A Q A K D p.600
. . | 08 . . . . g.10411
TCAGAAGATGCAGCCAAAGTGGAAG | CAAAAGAACCCCCATCTCAGAGTCCCAACACTCCC c.1860
S E D A A K V E A | K E P P S Q S P N T P p.620
. . . . . . g.10471
CTGCAGCGTCTGGTGGAGGGTTATGGTCCAGCTGGGAAAATCCTCCTGGATCTAGAGCAA c.1920
L Q R L V E G Y G P A G K I L L D L E Q p.640
. . . . . . g.10531
GCCCTCAGCTCAGAGGGGACCCAGGAGAACAAGGTCAAGCCACTCCTGCTGCAGCTGCAG c.1980
A L S S E G T Q E N K V K P L L L Q L Q p.660
. . . . . . g.10591
CGGCAGCCGCAGCCCTTCCTGGCACTGATGCAGAGCCTGGACACTCCGGAGACTAACAGG c.2040
R Q P Q P F L A L M Q S L D T P E T N R p.680
. . | 09 . . . . g.10729
ACCCTGCACCTGACTGTGCTGAG | AATCCTGAAGCAGCTGGTGGACTTCCCCGAGGCACTG c.2100
T L H L T V L R | I L K Q L V D F P E A L p.700
. . . . . . g.10789
CTGCTCCCCTGGCACGAGGCCGTGGATGCCTGCATGGCCTGCCTGCGGTCCCCAAACACT c.2160
L L P W H E A V D A C M A C L R S P N T p.720
| 10 . . . . . g.11889
GATCGAGAG | GTGCTCCAGGAACTGATTTTCTTCCTGCACCGCCTGACCTCAGTGAGCAGG c.2220
D R E | V L Q E L I F F L H R L T S V S R p.740
. . . . . . g.11949
GACTATGCCGTGGTGCTGAATCAGCTGGGAGCAAGAGACGCTATCTCCAAGGCCCTGGAA c.2280
D Y A V V L N Q L G A R D A I S K A L E p.760
. . . . . . g.12009
AAGCACCTGGGAAAGCTGGAGCTGGCTCAGGAGCTGCGGGACATGGTGTTCAAGTGTGAG c.2340
K H L G K L E L A Q E L R D M V F K C E p.780
. . . . . | 11. g.12347
AAGCATGCCCACCTCTACCGCAAACTCATCACCAACATCCTGGGAGGCTGCATCCAG | ATG c.2400
K H A H L Y R K L I T N I L G G C I Q | M p.800
. . . . . . g.12407
GTGCTGGGCCAGATCGAAGACCACAGACGAACCCACCAACCCATCAACATCCCTTTCTTT c.2460
V L G Q I E D H R R T H Q P I N I P F F p.820
. . | 12 . . . g.12570
GATGTGTTCCTCAGATACCTGTGCCAGG | GCTCCAGTGTGGAAGTGAAGGAGGACAAGTGC c.2520
D V F L R Y L C Q G | S S V E V K E D K C p.840
. . . . . . g.12630
TGGGAGAAGGTGGAGGTGTCCTCCAACCCGCACCGGGCCAGCAAGCTGACGGACCACAAC c.2580
W E K V E V S S N P H R A S K L T D H N p.860
. . . . . . g.12690
CCCAAGACCTATTGGGAGTCCAACGGCAGCGCCGGCTCCCACTACATCACCCTGCACATG c.2640
P K T Y W E S N G S A G S H Y I T L H M p.880
. . | 13 . . . . g.12894
CGCCGGGGCATCCTCATCAG | GCAACTGACTCTGCTTGTGGCTAGTGAGGACTCGAGTTAC c.2700
R R G I L I R | Q L T L L V A S E D S S Y p.900
. . . . . . g.12954
ATGCCGGCCCGAGTGGTGGTGTGCGGGGGTGATAGCACTAGCTCTCTTCACACGGAACTC c.2760
M P A R V V V C G G D S T S S L H T E L p.920
| 14 . . . . . . g.13317
AACTCG | GTGAATGTGATGCCCTCTGCCAGCCGGGTGATCCTCCTGGAGAACCTGACCCGC c.2820
N S | V N V M P S A S R V I L L E N L T R p.940
. . . . | 15 . . g.13561
TTCTGGCCCATCATCCAGATCCGCATAAAGCGCTGCCAGCAG | GGTGGCATTGATACGCGC c.2880
F W P I I Q I R I K R C Q Q | G G I D T R p.960
. . . . . . g.13621
ATTCGGGGGTTAGAGATCCTAGGCCCCAAGCCCACGTTCTGGCCAGTGTTCCGGGAGCAG c.2940
I R G L E I L G P K P T F W P V F R E Q p.980
. . . . . . g.13681
CTCTGTCGTCACACACGCCTCTTCTACATGGTTCGGGCACAGGCCTGGAGCCAGGACATG c.3000
L C R H T R L F Y M V R A Q A W S Q D M p.1000
. . . | 16 . . g.14082
GCAGAGGACCGCAGGAGCCTCCTGCACCTGAGTTCTAG | ACTCAACGGTGCTCTGCGCCAG c.3060
A E D R R S L L H L S S R | L N G A L R Q p.1020
. . . . . . g.14142
GAGCAGAATTTTGCTGACCGCTTCCTCCCTGATGACGAGGCTGCCCAAGCTCTGGGCAAG c.3120
E Q N F A D R F L P D D E A A Q A L G K p.1040
. . . . . | 17 . g.15323
ACCTGCTGGGAGGCCCTGGTCAGCCCCGTGGTGCAGAACATCACCTCCCCTG | ATGAGGAT c.3180
T C W E A L V S P V V Q N I T S P D | E D p.1060
. . . . . . g.15383
GGCATTAGCCCCCTGGGTTGGCTGCTGGACCAGTACCTGGAGTGTCAGGAAGCTGTCTTC c.3240
G I S P L G W L L D Q Y L E C Q E A V F p.1080
. . . . . . g.15443
AACCCCCAGAGCCGCGGCCCAGCTTTCTTCTCGCGGGTGCGCCGTCTCACTCACCTGCTG c.3300
N P Q S R G P A F F S R V R R L T H L L p.1100
. . . . . | 18 . g.15770
GTGCATGTCGAGCCCTGTGAGGCACCCCCTCCTGTGGTGGCCACTCCTCGGCCCA | AAGGC c.3360
V H V E P C E A P P P V V A T P R P K | G p.1120
. . . . . . g.15830
AGAAACAGAAGCCACGACTGGAGCTCCTTGGCTACCCGGGGCCTTCCAAGCAGCATCATG c.3420
R N R S H D W S S L A T R G L P S S I M p.1140
. . . . | 19 . . g.15979
AGAAACCTGACGCGCTGTTGGCGGGCCGTGGTGGAGAAGCAG | GTGAACAATTTTCTGACC c.3480
R N L T R C W R A V V E K Q | V N N F L T p.1160
. . . . . . g.16039
TCATCCTGGCGGGATGATGACTTTGTGCCACGCTACTGTGAGCACTTTAATATTCTGCAG c.3540
S S W R D D D F V P R Y C E H F N I L Q p.1180
. . . . . . g.16099
AACTCAAGCTCTGAACTGTTTGGGCCTCGGGCAGCCTTCTTGCTGGCGCTGCAAAATGGC c.3600
N S S S E L F G P R A A F L L A L Q N G p.1200
. . . . | 20 . . g.17885
TGTGCGGGAGCCTTGCTGAAGCTCCCTTTTCTCAAAGCTGCCCAC | GTGAGTGAGCAGTTC c.3660
C A G A L L K L P F L K A A H | V S E Q F p.1220
. . . . . . g.17945
GCCCGGCACATTGACCAGCAGATCCAGGGCAGCCGGATCGGTGGAGCCCAGGAAATGGAG c.3720
A R H I D Q Q I Q G S R I G G A Q E M E p.1240
. . . . . . g.18005
AGGCTGGCACAGCTGCAGCAATGCCTGCAAGCTGTCCTGATTTTCTCCGGCTTGGAGATA c.3780
R L A Q L Q Q C L Q A V L I F S G L E I p.1260
. . | 21 . . . . g.18233
GCCACCACTTTTGAGCATTATTACCA | GCACTACATGGCGGACCGTCTCCTGGGCGTGGTC c.3840
A T T F E H Y Y Q | H Y M A D R L L G V V p.1280
. . . . . . g.18293
TCGAGCTGGCTGGAGGGGGCCGTGCTGGAGCAGATCGGTCCCTGCTTCCCCAACCGCCTC c.3900
S S W L E G A V L E Q I G P C F P N R L p.1300
. . . . . . g.18353
CCCCAGCAGATGTTGCAGAGCCTGAGCACCTCTAAGGAGCTGCAGCGCCAGTTCCACGTC c.3960
P Q Q M L Q S L S T S K E L Q R Q F H V p.1320
. . . . . . g.18413
TACCAGCTCCAGCAGCTGGATCAGGAACTCCTGAAGCTGGAGGATACAGAGAAGAAAATA c.4020
Y Q L Q Q L D Q E L L K L E D T E K K I p.1340
| 22 . . . . . . g.18576
CAG | GTGGGCCTTGGGGCCAGTGGCAAGGAGCACAAGAGCGAGAAGGAAGAGGAAGCTGGG c.4080
Q | V G L G A S G K E H K S E K E E E A G p.1360
. . . . . . g.18636
GCAGCAGCAGTGGTGGATGTGGCGGAGGGAGAGGAGGAAGAGGAGGAGAATGAGGACCTC c.4140
A A A V V D V A E G E E E E E E N E D L p.1380
. . . . . . g.18696
TACTATGAAGGGGCAATGCCAGAAGTGTCTGTGCTTGTCCTGTCCCGACACTCCTGGCCT c.4200
Y Y E G A M P E V S V L V L S R H S W P p.1400
. . . . . . g.18756
GTTGCCTCAATCTGCCACACACTGAACCCCAGAACCTGCCTGCCCTCCTACCTGAGGGGC c.4260
V A S I C H T L N P R T C L P S Y L R G p.1420
. . . | 23 . . . g.19984
ACTTTGAACAGATACTCCAACTTCTACAACAAGA | GTCAGAGCCACCCTGCCCTTGAGCGA c.4320
T L N R Y S N F Y N K S | Q S H P A L E R p.1440
. . . . . . g.20044
GGCTCACAGAGGCGACTGCAGTGGACGTGGCTGGGCTGGGCTGAGCTGCAGTTTGGGAAC c.4380
G S Q R R L Q W T W L G W A E L Q F G N p.1460
. . . . . . g.20104
CAGACCCTGCATGTGTCCACCGTGCAGATGTGGCTACTGCTGTATCTCAACGACCTGAAG c.4440
Q T L H V S T V Q M W L L L Y L N D L K p.1480
| 24 . . . . . . g.20313
| GCGGTCTCTGTGGAGAGTCTGCTGGCGTTCTCAGGGCTCTCCGCAGACATGCTCAATCAG c.4500
| A V S V E S L L A F S G L S A D M L N Q p.1500
. . . . . . g.20373
GCGATTGGGCCCCTCACCTCTTCAAGAGGCCCCCTGGACCTTCACGAGCAAAAGGATATA c.4560
A I G P L T S S R G P L D L H E Q K D I p.1520
| 25. . . . . . g.20526
CCAGGAG | GGGTCCTCAAGATTCGAGATGGCAGCAAGGAACCCAGGTCGAGATGGGACATT c.4620
P G G | V L K I R D G S K E P R S R W D I p.1540
. . . . . . g.20586
GTGCGGCTCATCCCACCTCAGACGTACCTGCAAGCTGAGGGTGAAGACGGCCAGAACTTG c.4680
V R L I P P Q T Y L Q A E G E D G Q N L p.1560
. . . . . . g.20646
GAGAAGAGACGGAATCTTCTGAACTGCCTCATCGTCCGAATCCTCAAGGCCCATGGAGAT c.4740
E K R R N L L N C L I V R I L K A H G D p.1580
. . . | 26 . . . g.20961
GAGGGGCTGCACATTGACCAGCTTGTCTGTCTG | GTGCTGGAGGCTTGGCAGAAGGGCCCG c.4800
E G L H I D Q L V C L | V L E A W Q K G P p.1600
. . . . . . g.21021
TGTCCTCCCAGGGGTTTGGTCAGCAGCCTTGGTAAGGGGTCTGCATGCAGCAGCACTGAC c.4860
C P P R G L V S S L G K G S A C S S T D p.1620
. . . . . . g.21081
GTCCTCTCCTGCATCCTACACCTCCTGGGCAAGGGCACGCTGAGACGCCATGACGACCGG c.4920
V L S C I L H L L G K G T L R R H D D R p.1640
. . . . . . g.21141
CCCCAGGTGCTGTCCTATGCAGTCCCTGTGACTGTCATGGAGCCTCACACTGAGTCCCTG c.4980
P Q V L S Y A V P V T V M E P H T E S L p.1660
. . . . . . g.21201
AACCCAGGCTCCTCAGGCCCCAACCCACCCCTCACCTTCCATACCCTACAGATTCGCTCC c.5040
N P G S S G P N P P L T F H T L Q I R S p.1680
. . . . . g.21258
CGGGGTGTGCCCTATGCCTCCTGCACTGCCACCCAGAGCTTCTCTACCTTCCGGTAG c.5097
R G V P Y A S C T A T Q S F S T F R X p.1698
. . . . . . g.21318
ccctagacttggggtcaggggaaggtagagctggagcttttacagaaataaaacccaaga c.*60
. g.21329
gtttgattata c.*71
(downstream sequence)
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