(used for variant description)
(last modified July 28, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_030751.5 in the ZEB1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_017048.1, covering ZEB1 transcript NM_030751.5.
(upstream sequence)
g.5003
ggg c.-61
. . . . . . g.5063
ggggaagggggagggagggggaggaggtgactcgagcatttagacacaagcgagaggatc c.-1
. . . . . | 02 g.146867
ATGGCGGATGGCCCCAGGTGTAAGCGCAGAAAGCAGGCGAACCCGCGGCGCAATAACG | TT c.60
M A D G P R C K R R K Q A N P R R N N V | p.20
. . . . . . g.146927
ACAAATTATAATACTGTGGTAGAAACAAATTCAGATTCAGATGATGAAGACAAACTGCAT c.120
T N Y N T V V E T N S D S D D E D K L H p.40
. . . . . . g.146987
ATTGTGGAAGAAGAAAGTGTTACAGATGCAGCTGACTGTGAAGGTGTACCAGAGGATGAC c.180
I V E E E S V T D A A D C E G V P E D D p.60
. . . . . . g.147047
CTGCCAACAGACCAGACAGTGTTACCAGGGAGGAGCAGTGAAAGAGAAGGGAATGCTAAG c.240
L P T D Q T V L P G R S S E R E G N A K p.80
. | 03 . . . . g.181648
AACTGCTGGGAGGATGACA | GAAAGGAAGGGCAAGAAATCCTGGGGCCTGAAGCTCAGGCA c.300
N C W E D D R | K E G Q E I L G P E A Q A p.100
. | 04 . . . . g.188216
GATGAAGCAGGATGTACAG | TAAAAGATGATGAATGCGAGTCAGATGCAGAAAATGAGCAA c.360
D E A G C T V | K D D E C E S D A E N E Q p.120
. . . . . . g.188276
AACCATGATCCTAATGTTGAAGAGTTTCTACAACAACAAGACACTGCTGTCATTTTTCCT c.420
N H D P N V E E F L Q Q Q D T A V I F P p.140
. . . . . . g.188336
GAGGCACCTGAAGAGGACCAGAGGCAGGGCACACCAGAAGCCAGTGGTCATGATGAAAAT c.480
E A P E E D Q R Q G T P E A S G H D E N p.160
| 05 . . . . . . g.196559
G | GAACACCAGATGCATTTTCACAATTACTCACCTGTCCATATTGTGATAGAGGCTATAAA c.540
G | T P D A F S Q L L T C P Y C D R G Y K p.180
. . . . . . g.196619
CGCTTTACCTCTCTGAAAGAACACATTAAATATCGTCATGAAAAGAATGAAGATAACTTT c.600
R F T S L K E H I K Y R H E K N E D N F p.200
. . . . . . g.196679
AGTTGCTCCCTGTGCAGTTACACCTTTGCATACAGAACCCAACTTGAACGTCACATGACA c.660
S C S L C S Y T F A Y R T Q L E R H M T p.220
. . | 06 . . . . g.200466
TCACATAAATCAGGAAGAGATCAA | AGACATGTGACGCAGTCTGGGTGTAATCGTAAATTC c.720
S H K S G R D Q | R H V T Q S G C N R K F p.240
. . . . . . g.200526
AAATGCACTGAGTGTGGAAAAGCTTTCAAATACAAACATCACCTAAAAGAGCACTTAAGA c.780
K C T E C G K A F K Y K H H L K E H L R p.260
. | 07 . . . . . g.206003
ATTCACAGTG | GAGAGAAGCCATATGAATGCCCAAACTGCAAGAAACGCTTTTCCCATTCT c.840
I H S G | E K P Y E C P N C K K R F S H S p.280
. . . . . . g.206063
GGCTCCTATAGCTCACACATAAGCAGTAAGAAATGTATCAGCTTGATACCTGTGAATGGG c.900
G S Y S S H I S S K K C I S L I P V N G p.300
. . . . . . g.206123
CGACCAAGAACAGGACTCAAGACATCTCAGTGTTCTTCACCGTCTCTTTCAGCATCACCA c.960
R P R T G L K T S Q C S S P S L S A S P p.320
. . . . . . g.206183
GGCAGTCCCACACGACCACAGATACGGCAAAAGATAGAGAATAAACCCCTTCAAGAACAA c.1020
G S P T R P Q I R Q K I E N K P L Q E Q p.340
. . . . . . g.206243
CTTTCTGTTAACCAAATTAAAACTGAACCTGTGGATTATGAATTCAAACCCATAGTGGTT c.1080
L S V N Q I K T E P V D Y E F K P I V V p.360
. . . . . . g.206303
GCTTCAGGAATCAACTGTTCAACCCCTTTACAAAATGGGGTTTTCACTGGTGGTGGCCCA c.1140
A S G I N C S T P L Q N G V F T G G G P p.380
. . . . . . g.206363
TTACAGGCAACCAGTTCTCCTCAGGGCATGGTGCAAGCTGTTGTTCTGCCAACAGTTGGT c.1200
L Q A T S S P Q G M V Q A V V L P T V G p.400
. . . . . . g.206423
TTGGTGTCTCCCATAAGTATCAATTTAAGTGATATTCAGAATGTACTTAAAGTGGCGGTA c.1260
L V S P I S I N L S D I Q N V L K V A V p.420
. . . . . . g.206483
GATGGTAATGTAATAAGGCAAGTGTTGGAGAATAATCAAGCCAATCTTGCATCCAAAGAA c.1320
D G N V I R Q V L E N N Q A N L A S K E p.440
. . . . . . g.206543
CAAGAAACAATCAATGCTTCACCCATACAACAAGGTGGCCATTCTGTTATTTCAGCCATC c.1380
Q E T I N A S P I Q Q G G H S V I S A I p.460
. . . . . . g.206603
AGTCTTCCTTTGGTTGATCAAGATGGAACAACCAAAATTATCATCAACTACAGTCTTGAG c.1440
S L P L V D Q D G T T K I I I N Y S L E p.480
. . . . . . g.206663
CAGCCTAGCCAACTTCAAGTTGTTCCTCAAAATTTAAAAAAAGAAAATCCAGTCGCTACA c.1500
Q P S Q L Q V V P Q N L K K E N P V A T p.500
. . . . . . g.206723
AACAGTTGTAAAAGTGAAAAGTTACCAGAAGATCTTACTGTTAAGTCTGAGAAGGACAAA c.1560
N S C K S E K L P E D L T V K S E K D K p.520
. . . . . . g.206783
AGCTTTGAAGGGGGGGTGAATGATAGCACTTGTCTTCTGTGTGATGATTGTCCAGGAGAT c.1620
S F E G G V N D S T C L L C D D C P G D p.540
. . . . . . g.206843
ATTAATGCACTTCCAGAATTAAAGCACTATGACCTAAAGCAGCCTACTCAGCCTCCTCCA c.1680
I N A L P E L K H Y D L K Q P T Q P P P p.560
. . . . . . g.206903
CTCCCTGCAGCAGAAGCTGAGAAGCCTGAGTCCTCTGTTTCATCAGCTACTGGAGATGGC c.1740
L P A A E A E K P E S S V S S A T G D G p.580
. . . . . . g.206963
AATTTGTCTCCTAGTCAGCCACCTTTAAAGAACCTCTTGTCTCTCCTAAAAGCATATTAT c.1800
N L S P S Q P P L K N L L S L L K A Y Y p.600
. . . . . . g.207023
GCTTTGAATGCACAACCAAGTGCAGAAGAGCTCTCAAAAATTGCTGATTCAGTAAACCTA c.1860
A L N A Q P S A E E L S K I A D S V N L p.620
. . . . . . g.207083
CCACTGGATGTAGTAAAAAAGTGGTTTGAAAAGATGCAAGCTGGACAGATTTCAGTGCAG c.1920
P L D V V K K W F E K M Q A G Q I S V Q p.640
. . . . . . g.207143
TCTTCTGAACCATCTTCTCCTGAACCAGGCAAAGTAAATATCCCTGCCAAGAACAATGAT c.1980
S S E P S S P E P G K V N I P A K N N D p.660
. . . . . . g.207203
CAGCCTCAATCTGCAAATGCAAATGAACCCCAGGACAGCACAGTAAATCTACAAAGTCCT c.2040
Q P Q S A N A N E P Q D S T V N L Q S P p.680
. . . . . . g.207263
TTGAAGATGACTAACTCCCCAGTTTTACCAGTGGGATCAACCACCAATGGTTCCAGAAGT c.2100
L K M T N S P V L P V G S T T N G S R S p.700
. . . . . . g.207323
AGTACACCATCCCCATCACCTCTAAACCTTTCCTCATCCAGAAATACACAGGGTTACTTG c.2160
S T P S P S P L N L S S S R N T Q G Y L p.720
. . . . . . g.207383
TACACAGCTGAGGGTGCACAAGAAGAGCCACAAGTAGAACCTCTTGATCTTTCACTACCA c.2220
Y T A E G A Q E E P Q V E P L D L S L P p.740
. . . . . . g.207443
AAGCAACAGGGAGAATTATTAGAAAGGTCAACTATCACTAGTGTTTACCAGAACAGTGTT c.2280
K Q Q G E L L E R S T I T S V Y Q N S V p.760
. . . . . . g.207503
TATTCTGTCCAGGAAGAACCCTTGAACTTGTCTTGCGCAAAAAAGGAGCCACAAAAGGAC c.2340
Y S V Q E E P L N L S C A K K E P Q K D p.780
. . . . . . g.207563
AGTTGTGTTACAGACTCAGAACCAGTTGTAAATGTAATCCCACCAAGTGCCAACCCCATA c.2400
S C V T D S E P V V N V I P P S A N P I p.800
. . . . . . g.207623
AATATCGCTATACCTACAGTCACTGCCCAGTTACCCACAATCGTGGCCATTGCTGACCAG c.2460
N I A I P T V T A Q L P T I V A I A D Q p.820
. . . . . . g.207683
AACAGTGTTCCATGCTTAAGAGCGCTAGCTGCCAATAAGCAAACGATTCTGATTCCCCAG c.2520
N S V P C L R A L A A N K Q T I L I P Q p.840
. . . . . . g.207743
GTGGCATACACCTACTCAACTACGGTCAGCCCTGCAGTCCAAGAACCACCCTTGAAAGTG c.2580
V A Y T Y S T T V S P A V Q E P P L K V p.860
. . | 08 . . . . g.209799
ATCCAGCCAAATGGAAATCAG | GATGAAAGACAAGATACTAGCTCAGAAGGAGTATCAAAT c.2640
I Q P N G N Q | D E R Q D T S S E G V S N p.880
. . . . . . g.209859
GTAGAGGATCAGAATGACTCTGATTCTACACCGCCCAAAAAGAAAATGCGGAAGACAGAA c.2700
V E D Q N D S D S T P P K K K M R K T E p.900
. . . . . . g.209919
AATGGAATGTATGCTTGTGATTTGTGTGACAAGATATTCCAAAAGAGTAGTTCATTATTG c.2760
N G M Y A C D L C D K I F Q K S S S L L p.920
. . | 09 . . . . g.212537
AGACATAAATATGAACACACAG | GTAAAAGACCTCATGAGTGTGGAATCTGTAAAAAGGCA c.2820
R H K Y E H T G | K R P H E C G I C K K A p.940
. . . . . . g.212597
TTTAAACACAAACATCATTTGATTGAACACATGCGATTACATTCTGGAGAAAAGCCCTAT c.2880
F K H K H H L I E H M R L H S G E K P Y p.960
. . . . . . g.212657
CAATGTGACAAATGTGGAAAGCGCTTCTCACACTCTGGGTCTTATTCTCAACACATGAAT c.2940
Q C D K C G K R F S H S G S Y S Q H M N p.980
. . . . . . g.212717
CATCGCTACTCCTACTGTAAGAGAGAAGCGGAAGAACGTGACAGCACAGAGCAGGAAGAG c.3000
H R Y S Y C K R E A E E R D S T E Q E E p.1000
. . . . . . g.212777
GCAGGGCCTGAAATCCTCTCGAATGAGCACGTGGGTGCCAGGGCGTCTCCCTCACAGGGC c.3060
A G P E I L S N E H V G A R A S P S Q G p.1020
. . . . . . g.212837
GACTCGGACGAGAGAGAGAGTTTGACAAGGGAAGAGGATGAAGACAGTGAAAAAGAGGAA c.3120
D S D E R E S L T R E E D E D S E K E E p.1040
. . . . . . g.212897
GAGGAGGAGGATAAAGAGATGGAAGAATTGCAGGAAGAAAAAGAATGTGAAAAACCACAA c.3180
E E E D K E M E E L Q E E K E C E K P Q p.1060
. . . . . . g.212957
GGGGATGAGGAAGAGGAGGAGGAGGAGGAAGAAGTGGAAGAAGAAGAGGTAGAAGAGGCA c.3240
G D E E E E E E E E E V E E E E V E E A p.1080
. . . . . . g.213017
GAGAATGAGGGAGAAGAAGCAAAAACTGAAGGTCTGATGAAGGATGACAGGGCTGAAAGT c.3300
E N E G E E A K T E G L M K D D R A E S p.1100
. . . . . . g.213077
CAAGCAAGCAGCTTAGGACAAAAAGTAGGCGAGAGTAGTGAGCAAGTGTCTGAAGAAAAG c.3360
Q A S S L G Q K V G E S S E Q V S E E K p.1120
. g.213092
ACAAATGAAGCCTAA c.3375
T N E A X p.1124
. . . . . . g.213152
tcgtttttctagaaggaaaataaattctaattgataatgaatttcgttcaatattatcct c.*60
. . . . . . g.213212
tgcttttcatggaaacacagtaacctgtatgctgtgattcctgttcactactgtgtaaag c.*120
. . . . . . g.213272
taaaaactaaaaaaatacaaaatacaaaacacacacacacacacacacacacacacacac c.*180
. . . . . . g.213332
acacacacaaaataaatccgggtgtgcctgaacctcagacctagtaatttttcatgcagt c.*240
. . . . . . g.213392
tttcaaagttaggaacaagtttgtaacatgcagcagattagaaaaccttaatgactcaga c.*300
. . . . . . g.213452
gagcaacaatacaagaggttaaaggaagctgattaattagatatgcatctggcattgttt c.*360
. . . . . . g.213512
tatcttatcagtattatcactcttatgttggtttattcttaagctgtacaattgggagaa c.*420
. . . . . . g.213572
attttataattttttattggtaaacatatgctaaatccgcttcagtattttattatgttt c.*480
. . . . . . g.213632
tttaaaatgtgagaacttctgcactacaaaattcccttcacagagaagtataatgtagtt c.*540
. . . . . . g.213692
ccaacccgtgctaactaccttttataaattcagtctagaaggtagtaatttctaatattt c.*600
. . . . . . g.213752
agatgtcttagtagagcgtattatcatttaaagtgtattgttagccttaagaaagcagct c.*660
. . . . . . g.213812
gatagaagaactgaagtttcttactcacgtggtttaaaatggagttcaaaagattgccat c.*720
. . . . . . g.213872
tgagttctgattgcagggactaacaatgttaatctgataaggacagcaaaatcatcagaa c.*780
. . . . . . g.213932
tcagtgtttgtgattgtgtttgaatatgtggtaacatatgaaggatatgacatgaagctt c.*840
. . . . . . g.213992
tgtatctcctttggccttaagcaagacctgtgtgctgtaagtgccatttctcagtatttt c.*900
. . . . . . g.214052
caaggctctaacccgccttcatccaatgtgtggcctacaataactagcatttgttgattt c.*960
. . . . . . g.214112
gtctcttgtatcaaaattcccaaataaaacttaaaaccactgactctgtcagagaaactg c.*1020
. . . . . . g.214172
aaacactgggacatttcatccttcaattcctcggtattgattttatgttgattgattttc c.*1080
. . . . . . g.214232
agaatttctctacagaaacgaaagggaaattttctaatctgctttatccatgtacttgca c.*1140
. . . . . . g.214292
tttcagacatggacatgctattgttatttggctcataactgtttccaaatgttagttatt c.*1200
. . . . . . g.214352
atggacccaatttattaacaacattagctgatttttacctatcagtattattttatttct c.*1260
. . . . . . g.214412
tttagtttatagatctgtgcaacatttttgtactgtatgtcttcaaacctggcagtatta c.*1320
. . . . . . g.214472
atacccttcttactgacatatgtacttttagttttagaaaacttttatatttatgtgtct c.*1380
. . . . . . g.214532
tatttttatatttctttatttattacacagtgtagtgtataatactgtagtttgtattaa c.*1440
. . . . . . g.214592
tacaataatatattttagtatgaaaatttggaaagttgataagatttaaagtagagatgc c.*1500
. . . . . . g.214652
aattggttctcctgcattgagatttgatttaacagtgttatgttaacatttatacttgcc c.*1560
. . . . . . g.214712
ttggactgtagaacagaacttaaatgggaatgtattagttttacaactacaatcaagtca c.*1620
. . . . . . g.214772
ttttacctttacccagtttttaatataaaacttaaattttgaaattcactgtgtgactaa c.*1680
. . . . . . g.214832
tagcatgatgctctgcagttttattaagaaatcagcctaaccatacaactctcatttcct c.*1740
. . . . . . g.214892
tagtaagccaaattaggattaacttctataaacagtgttgggaacaatgtttaacatttt c.*1800
. . . . . . g.214952
gtgccaatttgttcctgtattcatgtatgtaagttacagatctgactcttcatttttaag c.*1860
. . . . . . g.215012
ttccttgttacatcatggtcattttctagttttttaccagactcccatctcacaataaaa c.*1920
. . . . . . g.215072
tgcatcaacaagcctgaactgctgtcattcttttcatcattatcagtattttctttggaa c.*1980
. . . . . . g.215132
aactgtgaaatggggtacattgtcatcctgcatttgattcatcttgagctgaatttgggt c.*2040
. . . . . . g.215192
aacactaaatgttttagacattctccactaaattatggattttcttgtggctaaatgttt c.*2100
. . . . . . g.215252
ctggagaggtcagagttgacaaaacctcttcacaggttgctccttcttcctgaaatcctt c.*2160
. . . . . . g.215312
aatcctccgcatttcatgcttcaggtcatttcagggaagcctgggtttagatgcctttct c.*2220
. . . . . . g.215372
gactctcagctcctgcacttctgtcatcatacctctgatactattatttatattccttcc c.*2280
. . . . . . g.215432
ccactaggaacaggaaccacatttgtcatagtcactctcacattcctcactgcctaacag c.*2340
. . . . . . g.215492
ggtgcctggcataagttgggacaacagatatttgttgaataaaaatataatttgcatgtt c.*2400
. . . . . . g.215552
tatggagctcagctatgttctcactttttttgcttctaattccagaatatatgttaaatg c.*2460
. . . . . . g.215612
atctaataatttgattattttcttataagtcttattaaacactagtcataatagacacaa c.*2520
. . . g.215642
taaattatgccttctttttctattgcctta c.*2550
(downstream sequence)
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