(used for variant description)
(last modified July 10, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_006565.3 in the CTCF gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering CTCF transcript NM_006565.3.
(upstream sequence)
. . g.5024
cccatgctgccctgcgccaacccc c.-421
. . . . . . g.5084
tcccctcacctttcctcccccgccctctactcgccgcccggccggtccccccacccgtcc c.-361
. . . . . . g.5144
cttcccttatcagcacccgcggccccggcagcgccgacgcaggcgcactgcaccgcgccg c.-301
. . . . . . g.5204
ccgccattttgtgtctgagcctgtggagcgattaaaccgtgcgcggagctgcttctttgg c.-241
. . . . . . g.5264
cggcagcggcggcggcggtggccggtgcggacgcgcggagctcgccggagacgccgggtg c.-181
. . . . . . | 02 g.13747
gccggagccgtggagcggcggcggagcgggcgccgcggggggtgtggcgcggag | aatgat c.-121
. . . . . . g.13807
tacggacctgaagccaaagaacaagatgcgctagtggacagattgctgaccaggggcttg c.-61
. . . . . . | 03 g.53426
agagctgggttctattttccctcctcaaactgactttgcagccacggagag | gcaggggaa c.-1
. . . . . . g.53486
ATGGAAGGTGATGCAGTCGAAGCCATTGTGGAGGAGTCCGAAACTTTTATTAAAGGAAAG c.60
M E G D A V E A I V E E S E T F I K G K p.20
. . . . . . g.53546
GAGAGAAAGACTTACCAGAGACGCCGGGAAGGGGGCCAGGAAGAAGATGCCTGCCACTTA c.120
E R K T Y Q R R R E G G Q E E D A C H L p.40
. . . . . . g.53606
CCCCAGAACCAGACGGATGGGGGTGAGGTGGTCCAGGATGTCAACAGCAGTGTACAGATG c.180
P Q N Q T D G G E V V Q D V N S S V Q M p.60
. . . . . . g.53666
GTGATGATGGAACAGCTGGACCCCACCCTTCTTCAGATGAAGACTGAAGTAATGGAGGGC c.240
V M M E Q L D P T L L Q M K T E V M E G p.80
. . . . . . g.53726
ACAGTGGCTCCAGAAGCAGAGGCTGCTGTGGACGATACCCAGATTATAACTTTACAGGTT c.300
T V A P E A E A A V D D T Q I I T L Q V p.100
. . . . . . g.53786
GTAAATATGGAGGAACAGCCCATAAACATAGGAGAACTTCAGCTTGTTCAAGTACCTGTT c.360
V N M E E Q P I N I G E L Q L V Q V P V p.120
. . . . . . g.53846
CCTGTGACTGTACCTGTTGCTACCACTTCAGTAGAAGAACTTCAGGGGGCTTATGAAAAT c.420
P V T V P V A T T S V E E L Q G A Y E N p.140
. . . . . . g.53906
GAAGTGTCTAAAGAGGGCCTTGCGGAAAGTGAACCCATGATATGCCACACCCTACCTTTG c.480
E V S K E G L A E S E P M I C H T L P L p.160
. . . . . . g.53966
CCTGAAGGGTTTCAGGTGGTTAAAGTGGGGGCCAATGGAGAGGTGGAGACACTAGAACAA c.540
P E G F Q V V K V G A N G E V E T L E Q p.180
. . . . . . g.54026
GGGGAACTTCCACCCCAGGAAGATCCTAGTTGGCAAAAAGACCCAGACTATCAGCCACCA c.600
G E L P P Q E D P S W Q K D P D Y Q P P p.200
. . . . . . g.54086
GCCAAAAAAACAAAGAAAACCAAAAAGAGCAAACTGCGTTATACAGAGGAGGGCAAAGAT c.660
A K K T K K T K K S K L R Y T E E G K D p.220
. . . . . . g.54146
GTAGATGTGTCTGTCTACGATTTTGAGGAAGAACAGCAGGAGGGTCTGCTATCAGAGGTT c.720
V D V S V Y D F E E E Q Q E G L L S E V p.240
. . . . . . g.54206
AATGCAGAGAAAGTGGTTGGTAATATGAAGCCTCCAAAGCCAACAAAAATTAAAAAGAAA c.780
N A E K V V G N M K P P K P T K I K K K p.260
| 04 . . . . . . g.54603
G | GTGTAAAGAAGACATTCCAGTGTGAGCTTTGCAGTTACACGTGTCCACGGCGTTCAAAT c.840
G | V K K T F Q C E L C S Y T C P R R S N p.280
. . . . . . g.54663
TTGGATCGTCACATGAAAAGCCACACTGATGAGAGACCACACAAGTGCCATCTCTGTGGC c.900
L D R H M K S H T D E R P H K C H L C G p.300
. . . . . | 05 . g.59346
AGGGCATTCAGAACAGTCACCCTCCTGAGGAATCACCTTAACACACACACAG | GTACTCGT c.960
R A F R T V T L L R N H L N T H T G | T R p.320
. . . . . . g.59406
CCTCACAAGTGCCCAGACTGCGACATGGCCTTTGTGACCAGTGGAGAATTGGTTCGGCAT c.1020
P H K C P D C D M A F V T S G E L V R H p.340
. . . . . . g.59466
CGTCGTTACAAACACACCCACGAGAAGCCATTCAAGTGTTCCATGTGCGATTACGCCAGT c.1080
R R Y K H T H E K P F K C S M C D Y A S p.360
| 06 . . . . . . g.63344
GTAGAA | GTCAGCAAATTAAAACGTCACATTCGCTCTCATACTGGAGAGCGTCCGTTTCAG c.1140
V E | V S K L K R H I R S H T G E R P F Q p.380
. . . . . . g.63404
TGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACC c.1200
C S L C S Y A S R D T Y K L K R H M R T p.400
| 07. . . . . . g.64088
CATTCAG | GGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGT c.1260
H S G | E K P Y E C Y I C H A R F T Q S G p.420
. . . . . . g.64148
ACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCC c.1320
T M K M H I L Q K H T E N V A K F H C P p.440
. . . | 08. . . g.69171
CACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGG | GTGTCCACTTGCGAAAGCAGCAT c.1380
H C D T V I A R K S D L G | V H L R K Q H p.460
. . . . . . g.69231
TCCTATATTGAGCAAGGCAAGAAATGCCGTTACTGTGATGCTGTGTTTCATGAGCGCTAT c.1440
S Y I E Q G K K C R Y C D A V F H E R Y p.480
. . . . . . g.69291
GCCCTCATCCAGCATCAGAAGTCACACAAGAATGAGAAGCGCTTTAAGTGTGACCAGTGT c.1500
A L I Q H Q K S H K N E K R F K C D Q C p.500
. | 09 . . . . g.71005
GATTACGCTTGTAGACAG | GAGAGGCACATGATCATGCACAAGCGCACCCACACCGGGGAG c.1560
D Y A C R Q | E R H M I M H K R T H T G E p.520
. . . . . . g.71065
AAGCCTTACGCCTGCAGCCACTGCGATAAGACCTTCCGCCAGAAGCAGCTTCTCGACATG c.1620
K P Y A C S H C D K T F R Q K Q L L D M p.540
. . . . . . g.71125
CACTTCAAGCGCTATCACGACCCCAACTTCGTCCCTGCGGCTTTTGTCTGTTCTAAGTGT c.1680
H F K R Y H D P N F V P A A F V C S K C p.560
. . | 10 . . . . g.72030
GGGAAAACATTTACACGTCGG | AATACCATGGCAAGACATGCTGATAATTGTGCTGGCCCA c.1740
G K T F T R R | N T M A R H A D N C A G P p.580
. . . . . . g.72090
GATGGCGTAGAGGGGGAAAATGGAGGAGAAACGAAGAAGAGTAAACGTGGAAGAAAAAGA c.1800
D G V E G E N G G E T K K S K R G R K R p.600
. . . | 11. . . g.79306
AAGATGCGCTCTAAGAAAGAAGATTCCTCTGACAGTG | AAAATGCTGAACCAGATCTGGAC c.1860
K M R S K K E D S S D S E | N A E P D L D p.620
. . . . . . g.79366
GACAATGAGGATGAGGAGGAGCCTGCCGTAGAAATTGAACCTGAGCCAGAGCCTCAGCCT c.1920
D N E D E E E P A V E I E P E P E P Q P p.640
. . . . . . g.79426
GTGACCCCAGCCCCACCACCCGCCAAGAAGCGGAGAGGACGACCCCCTGGCAGAACCAAC c.1980
V T P A P P P A K K R R G R P P G R T N p.660
. | 12 . . . . g.80322
CAGCCCAAACAGAACCAGC | CAACAGCTATCATTCAGGTTGAAGACCAGAATACAGGTGCA c.2040
Q P K Q N Q P | T A I I Q V E D Q N T G A p.680
. . . . . . g.80382
ATTGAGAACATTATAGTTGAAGTAAAAAAAGAGCCAGATGCTGAGCCCGCAGAGGGAGAG c.2100
I E N I I V E V K K E P D A E P A E G E p.700
. . . . . . g.80442
GAAGAGGAGGCCCAGCCAGCTGCCACAGATGCCCCCAACGGAGACCTCACGCCCGAGATG c.2160
E E E A Q P A A T D A P N G D L T P E M p.720
. . g.80466
ATCCTCAGCATGATGGACCGGTGA c.2184
I L S M M D R X p.727
. . . . . . g.80526
tggcggagccttgtgcgtcgccaggacttctctgggctgtgtttaaacggcccgcatctt c.*60
. . . . . . g.80586
aatttttctcccttctttctttttttggctttgggaaaagcatcattttaccaaacatac c.*120
. . . . . . g.80646
cgagaacgaaaacttcaaggatgatgttagaaaaaaatgtgatttaactagaacttgctg c.*180
. . . . . . g.80706
tctgatgttagcaaatcatggaatgttctgagtccctgagggtttactgtgaagtgctga c.*240
. . . . . . g.80766
ggacagtgttgacaactaactcgttttcctagatggaaacggagacattgacccctccct c.*300
. . . . . . g.80826
ccatgtggtaaaccactccagaatggccaccaggcttcccagagttctatggtcttcttc c.*360
. . . . . . g.80886
ccaagagagtttttaattgtaaatgcatacttgggaaggacttagagttttaaactgttt c.*420
. . . . . . g.80946
tttgcttttgcttttccctgactccctttgcttggagtcagctgcacaccagtagtatgg c.*480
. . . . . . g.81006
catgctacgatcaggttctgtcctgaaagctttgcctctttcttggcaaagtttctggta c.*540
. . . . . . g.81066
tggtcaagcttgtaaataactttttttacattttaatcttttccattaattaagaggttg c.*600
. . . . . . g.81126
aaaagaagtgcagtgtaagaaaacccagcattttaattacttgcaaattaagttaccaca c.*660
. . . . . . g.81186
gactctgtagtgtgtaaatgttgacaaggaattggatcacaatcatgtagcagaatggca c.*720
. . . . . . g.81246
cccagaccactgcccaccagtgacggacatgcacgtggcagatcatgatttccagcccac c.*780
. . . . . . g.81306
ggagccagcatttgaaccttgtataattaactttcagttatgatttcccatcgacatttt c.*840
. . . . . . g.81366
ctttgccctgtttgtagctgattgttgtgttttataaatcttctgttaaggcagaagggt c.*900
. . . . . . g.81426
gattatgagtggttcacagcagcccttataagctgggccagaaaatttcactaggtcagt c.*960
. . . . . . g.81486
aatttaaaccttggatcttcaaaaaataaaataatgtgaagcaaaaccaactaaaaagtg c.*1020
. . . . . . g.81546
attcttgcacatgaactgtcacatgtttaaaaatgtgttttttagagagcctcagtctta c.*1080
. . . . . . g.81606
ctgatttcaaacacttttttcttctgtgtattgcttttaagagagccatcagttagctat c.*1140
. . . . . . g.81666
cagactctaggttgatgcattttgtacttagctgtactgtgtgatatttttcattatttt c.*1200
. . . . . . g.81726
aggacgccaacatgagacctgtaataaaatatgtaatggggttgaaagctggggaggagg c.*1260
. . . . . g.81779
atctactgctgtacagctaataaatcataacggattaacaagtgctccaaaga c.*1313
(downstream sequence)
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