(used for variant description)
(last modified March 14, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000555.3 in the DCX gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000023.10, covering DCX transcript NM_000555.3.
(upstream sequence)
. . . . . g.6138
cttatttcttatgaatgtcggatagctgcaccagcttggtggggaaagggtt c.-121
. . . . . . g.6198
tgatgaatagcacaaagacactggctgttccctggaggctgtccctttaaaggagaatct c.-61
. . . . . . g.6258
tagtttattctggggggaggggatgcacacattagagtaggaaagagggcttggaataaa c.-1
. . . . . . g.6318
ATGAAAACACTCCCCCTTCATAGTCATTGTACTGAAATGCAAAGACTGCTTCCTAAGCTG c.60
M K T L P L H S H C T E M Q R L L P K L p.20
. . . . . . g.6378
GAGATGCTAACCTTGGGTAGCTCCTTCTGTTCTCTTCAAGGGGAATTTTGTCAGGCTATG c.120
E M L T L G S S F C S L Q G E F C Q A M p.40
. . . . . . g.6438
GATTCATTTACAACTGTTAGTCATGTGGGCATGTGTGAGGAAACAGATGCCAGTTTTAAT c.180
D S F T T V S H V G M C E E T D A S F N p.60
. . . . | 02 . . g.6831
GTATTTAGCCCGAAGTTCCAATTTGATAGGAGCCACTGTCA | GTCTCTGAGGTTCCACCAA c.240
V F S P K F Q F D R S H C Q | S L R F H Q p.80
. . . . . . g.6891
AATATGGAACTTGATTTTGGACACTTTGACGAAAGAGATAAGACATCCAGGAACATGCGA c.300
N M E L D F G H F D E R D K T S R N M R p.100
. . . . . . g.6951
GGCTCCCGGATGAATGGGTTGCCTAGCCCCACTCACAGCGCCCACTGTAGCTTCTACCGA c.360
G S R M N G L P S P T H S A H C S F Y R p.120
. . . . . . g.7011
ACCAGAACCTTGCAGGCACTGAGTAATGAGAAGAAAGCCAAGAAGGTACGTTTCTACCGC c.420
T R T L Q A L S N E K K A K K V R F Y R p.140
. . . . . . g.7071
AATGGGGACCGCTACTTCAAGGGGATTGTGTACGCTGTGTCCTCTGACCGTTTTCGCAGC c.480
N G D R Y F K G I V Y A V S S D R F R S p.160
. . . . . . g.7131
TTTGACGCCTTGCTGGCTGACCTGACGCGATCTCTGTCTGACAACATCAACCTGCCTCAG c.540
F D A L L A D L T R S L S D N I N L P Q p.180
. . . . . . g.7191
GGAGTGCGTTACATTTACACCATTGATGGATCCAGGAAGATCGGAAGCATGGATGAACTG c.600
G V R Y I Y T I D G S R K I G S M D E L p.200
| 03. . . . . . g.15955
GAGGAAG | GGGAAAGCTATGTCTGTTCCTCAGACAACTTCTTTAAAAAGGTGGAGTACACC c.660
E E G | E S Y V C S S D N F F K K V E Y T p.220
. . . . . . g.16015
AAGAATGTCAATCCCAACTGGTCTGTCAACGTAAAAACATCTGCCAATATGAAAGCCCCC c.720
K N V N P N W S V N V K T S A N M K A P p.240
. . . . . . g.16075
CAGTCCTTGGCTAGCAGCAACAGTGCACAGGCCAGGGAGAACAAGGACTTTGTGCGCCCC c.780
Q S L A S S N S A Q A R E N K D F V R P p.260
. . . . . . g.16135
AAGCTGGTTACCATCATCCGCAGTGGGGTGAAGCCTCGGAAGGCTGTGCGTGTGCTTCTG c.840
K L V T I I R S G V K P R K A V R V L L p.280
. . . . . . g.16195
AACAAGAAGACAGCCCACTCTTTTGAGCAAGTCCTCACTGATATCACAGAAGCCATCAAA c.900
N K K T A H S F E Q V L T D I T E A I K p.300
. . . . | 04 . g.84091
CTGGAGACCGGGGTTGTCAAAAAACTCTACACTCTGGATGGAAAACAG | GTAACTTGTCTC c.960
L E T G V V K K L Y T L D G K Q | V T C L p.320
. . . . . . g.84151
CATGATTTCTTTGGTGATGATGATGTGTTTATTGCCTGTGGTCCTGAAAAATTTCGCTAT c.1020
H D F F G D D D V F I A C G P E K F R Y p.340
. . . | 05 . . . g.86220
GCTCAGGATGATTTTTCTCTGGATGAAAATG | AATGCCGAGTCATGAAGGGAAACCCATCA c.1080
A Q D D F S L D E N E | C R V M K G N P S p.360
. . . . . . g.86280
GCCACAGCTGGCCCAAAGGCATCCCCAACACCTCAGAAGACTTCAGCCAAGAGCCCTGGT c.1140
A T A G P K A S P T P Q K T S A K S P G p.380
. . . | 06 . . . g.104522
CCTATGCGCCGAAGCAAGTCTCCAGCTGACTCAG | CAAACGGAACCTCCAGCAGCCAGCTC c.1200
P M R R S K S P A D S A | N G T S S S Q L p.400
. . . . . . g.104582
TCTACCCCCAAGTCTAAGCAGTCTCCCATCTCTACGCCCACCAGTCCTGGCAGCCTCCGG c.1260
S T P K S K Q S P I S T P T S P G S L R p.420
| 07 . . . . . g.115540
AAGCACAAG | GACCTGTACCTGCCTCTGTCCTTGGATGACTCGGACTCGCTTGGTGATTCC c.1320
K H K | D L Y L P L S L D D S D S L G D S p.440
g.115546
ATGTAA c.1326
M X p.441
. . . . . . g.115606
aggaggggagagtgctcagagtccagagtacaaatccaagcctatcattgtagtagggta c.*60
. . . . . . g.115666
cttctgctcaagtgtccaacagggctattggtgctttcaagtttttattttgttgttgtt c.*120
. . . . . . g.115726
gttattttgaaaaacacattgtaatatgttgggtttattttcctgtgatttctcctctgg c.*180
. . . . . . g.115786
gccactgatccacagttaccaattatgagagatagattgataaccatcctttggggcagc c.*240
. . . . . . g.115846
attccagggatgcaaaatgtgctagtccatgacctttcaatggaaagcttaggtgcctgc c.*300
. . . . . . g.115906
gttatatttgccctgtctaattttgcccatacagtcttccttctgtagagggctgtttac c.*360
. . . . . . g.115966
atatacagcacttaaaatgtttgtgtgggaaaaaaaaaactcattggcagatccaagaat c.*420
. . . . . . g.116026
gacaaacacaagtgccccttttctctggatctcaagaatggtggaggaccctggaaggac c.*480
. . . . . . g.116086
agcaaggcagctccccagcctcactcttcactcctgattgaggcccgggtttgttgtcca c.*540
. . . . . . g.116146
gcaccaattctggctgtcaatggggagaaataaaccaacaacttataattgtgacaccag c.*600
. . . . . . g.116206
atgcttaggatcctggtgctgggttagctaagagaatagacagaattggaaaatactgca c.*660
. . . . . . g.116266
gacatttccgaagagtttataaagcacagtgaattcctggtcaatctctccactgaggca c.*720
. . . . . . g.116326
atttggaatcaataagcaattgataatagtttggagtaagggacttcatatacctgattc c.*780
. . . . . . g.116386
ctctagaaggctgtctaacataccacatgattacatgaactgtatggtatccatctatct c.*840
. . . . . . g.116446
ctgttctattgaatgccttgttaacagccaacactgaaaacactgtgagaatttgttttc c.*900
. . . . . . g.116506
aggtctgacacctttcagtctctttttatagcaagaaatcaatatcctttttataaaaat c.*960
. . . . . . g.116566
tcatgtctgtatttcaggagcaaactcttcaggctccttttttataaactggtgattttt c.*1020
. . . . . . g.116626
cttttgtctaaaaaacacatgaagaaaatttaccaaaaaaaaaaaaaaaagcagaagaat c.*1080
. . . . . . g.116686
aatgtagtttagaaattatgctgtcactgccaaacagtaacctccaggagaaaacaagat c.*1140
. . . . . . g.116746
gaatagcagaggccaattcaatagaatcagttttttgatagctttttaacagttatgctt c.*1200
. . . . . . g.116806
gcattaataatttcaatgtggaccagacattctaattatattttaaatgaaatgttacag c.*1260
. . . . . . g.116866
catattttaagcaactctttttatctataatcctaatatttcatactgaagacacagaaa c.*1320
. . . . . . g.116926
tctttcacttgtctttaacattagaaaggatttctctttactaaggactgatcatttgaa c.*1380
. . . . . . g.116986
atagttttcagtcttttgagatacaggtttataacactgcttttttttttctgtaatcat c.*1440
. . . . . . g.117046
agcccataatggcaaagacaactaaatttaagtgaaggtcatgcatgccaattctgtgtt c.*1500
. . . . . . g.117106
tgcttttagcagatatgaagatttccttatttctttgtaattgtgcagatattttgaaag c.*1560
. . . . . . g.117166
gcacagcattcgaagccaagctgctgtttggctactgaatggcttgcagttgttcctcca c.*1620
. . . . . . g.117226
ctctaaatggaatgagcttgctgtgtgtgtgtgtggtggtggtgggagggggtggtgcat c.*1680
. . . . . . g.117286
gtgtgtgtgtgtgtgtgcatctgcagctgcttcaaaattaggaaatactacaggacaccc c.*1740
. . . . . . g.117346
ctgtaatggattggtggcaactgggtggcactgctgatgtgcactgtgtaggggggaacc c.*1800
. . . . . . g.117406
cagtggtggtggggtagctcagatgcccctagacaagcttcagatgtctgtagctaccag c.*1860
. . . . . . g.117466
aaacattttcggttcaggaaaagtgagatgatggtagtactggtttctggtgaaattgaa c.*1920
. . . . . . g.117526
gaaccccaaatgatgaggatctctttttgccccctctcctttttttgtagacccattcaa c.*1980
. . . . . . g.117586
aaccattaataagcccattttactaagcccctatttctttctagaagctcagggttttct c.*2040
. . . . . . g.117646
tagtgcctcccagaacattttgtagttaattgggaaaaagtgatacttggattagggggt c.*2100
. . . . . . g.117706
gtgggcataaagaatggtgggaggcctgattttaaacttcaggccagaacccccaatgac c.*2160
. . . . . . g.117766
tccacccatagtctcactttaggtctcatttagtccatcacctttattttaagttgagga c.*2220
. . . . . . g.117826
agtggaggctggtaaagagcaggaccagaggaagaatccagatttccttatgcttgggcc c.*2280
. . . . . . g.117886
tcacactagctctctgagtatttccttgattgcggtatatgtactactagaaaataccaa c.*2340
. . . . . . g.117946
atggatatattttctttaggataacctttgaaccaacaatcttcaataacaatagtacat c.*2400
. . . . . . g.118006
cttccatcttacttttaatcgagtataaggaaatgtttctttatggccattttggaggga c.*2460
. . . . . . g.118066
gcaggggatgaggcttggcatagtccaaaatttaagtctccaataattaattgcatttta c.*2520
. . . . . . g.118126
aattggcccactttcaaggcaattttttttgtgtgtctgtaactgagctcctccacccct c.*2580
. . . . . . g.118186
gtcattcacttccaattttacccaatccaattttagcactcaagttccattgtgttaatt c.*2640
. . . . . . g.118246
tctgcacggtcaacaaacatcaagtcagcaagcatttgccaccactccctatacttctcc c.*2700
. . . . . . g.118306
ctccttcttacacacacacacacacacacacacacaatccatctcttgcttgttcctacc c.*2760
. . . . . . g.118366
tcctgatttttcttccctacagaaatagaaatagggacaaagaaggggaaaatgtatata c.*2820
. . . . . . g.118426
ttggggctgggctgaacaactaacttcataagtagtattaactaggggtaaattgagaga c.*2880
. . . . . . g.118486
aaagctccttttctcttcactgttttggaaaggatagccattagcatgactgctttgtgt c.*2940
. . . . . . g.118546
ccttatggactttagtattagcctagattgaattatagcgttttctagctggaaggaacc c.*3000
. . . . . . g.118606
ttaagatcacatcatctactcctctactccaaatttctcattcttcaggccaggaaaccg c.*3060
. . . . . . g.118666
agacacagaggtaaagtaatttccccaaggtcacacagctggctggggcaggattgggtt c.*3120
. . . . . . g.118726
tacaacccacatctcctggctcttattccagggccttttcccactaagtagtattgcctt c.*3180
. . . . . . g.118786
ccattaggctcctgagagttatttctcagggtcatgttgcatcttggagccacatgctgc c.*3240
. . . . . . g.118846
tgccctgatctcagtgggaaatccacccagcaacctaatacagccccttttccctgcatt c.*3300
. . . . . . g.118906
cacctggttcccatccacatgggttgcagatgtccttgaagagagtgaggcattgagggc c.*3360
. . . . . . g.118966
caataggagcaatggggtccctggccttgtccatctgattcaggagatcactgctccatc c.*3420
. . . . . . g.119026
gtgaggagccctctgaatagccccccactgaatgcttgccttgcccaaatggaatggagg c.*3480
. . . . . . g.119086
aagattgattttctccatcagttcaccttgtgtcatctcataatggttggtctttccagg c.*3540
. . . . . . g.119146
ctgagggaaatgtttcttgtttccagagtagaaaaagaaagagtggaacaatagctttgt c.*3600
. . . . . . g.119206
tcatcctaactttctgagatggcttttcaacattttaaaaaaactagtgtggctaccatt c.*3660
. . . . . . g.119266
cactggcaatgatttcttttagaatatgggagtaagatgagctagagaaaataacctggt c.*3720
. . . . . . g.119326
ctcactgtggttgccctcatccacaatgtccccaaagccatcctgctctgatgaggacaa c.*3780
. . . . . . g.119386
tttccaggtataagcaaggggctttgtgacaaaaatgtaccctggctgatgttaaacatt c.*3840
. . . . . . g.119446
ggctcctgtgtttgcaccaaaatagcaagctgtgtgctctatacactcttcccatcgtct c.*3900
. . . . . . g.119506
tgtgtacactgctcctgtggccttccacagcagaaaccagggcaaaagggtccaaacaca c.*3960
. . . . . . g.119566
tggttttccttgctgcaaggctcttcctgggaactaagggggtatttattagttcagttc c.*4020
. . . . . . g.119626
taagagacctccttctgggcttaccccactcctcaggtacttctctctccttcctccttc c.*4080
. . . . . . g.119686
tcctccacagtcacaagtaaccaaggaacctgaaagtggatgtgtagctatttgaagaag c.*4140
. . . . . . g.119746
gcaaggaaccctgagattcttctttgaatcctctagtccaagtcttagaccagtgattgg c.*4200
. . . . . . g.119806
tgcttaccttgaacaaaattttgtctgtgttcctaatcccttcaatactctgggtacaat c.*4260
. . . . . . g.119866
gctcccaatcaccctgcacatttgattctaaatggcttttattttttaaaaatccatatc c.*4320
. . . . . . g.119926
cctaggacaagagaacaggatgcctatatccccaaaatgagctccaggacactgatggga c.*4380
. . . . . . g.119986
atgatcccaaagatcaccccacctcagaaacgtctgtgccaagagacttccccagataga c.*4440
. . . . . . g.120046
aacactgggacagtggtttgaacgacttcttttatggttgtccagtttgctatggaaata c.*4500
. . . . . . g.120106
aaaggcattgattttttaaaaagatgattggaacctgtctttggccacatagggccactt c.*4560
. . . . . . g.120166
ggatccatttccaggccttactcatatattgccttcactgaagggctttggctttaagtc c.*4620
. . . . . . g.120226
ccagactggtctcccaagtgaaccataagtgttttggagctcatctggggtgaggcatga c.*4680
. . . . . . g.120286
gaatgttgccccatctatcccttcaggaaaaggtgccttccctccctttctcctaaagcc c.*4740
. . . . . . g.120346
tggtccccagaaattgtttttgtctccaaaagtctagtatggtctttatacacccagact c.*4800
. . . . . . g.120406
cttagtgttgcgtcctgccttgtttccttgttaaggatctatgcagacctcccgctttgg c.*4860
. . . . . . g.120466
cttagctagcgtgacattggctatcatttgacaagactaacttttttttttttttttttt c.*4920
. . . . . . g.120526
tgactgagtctccctctgtcacctaggctggagtgcagtggcacaatcttggctcgctgc c.*4980
. . . . . . g.120586
aaccttcacccttcacctcccaggtcgaagcgattctcctgcctcagtctcccgagtagc c.*5040
. . . . . . g.120646
tgggattacaggcgtgcgccaccaaatctggctatttttttattattattatttttagta c.*5100
. . . . . . g.120706
gagatggggtttcaccatgttggccagactggtcttgaactcttggcctcaaattatctg c.*5160
. . . . . . g.120766
cccacctcggcctcccaaagtgctgggattacaggcatgagccaccatgcccagctgaca c.*5220
. . . . . . g.120826
agactaattttttatcccttggtttattggcttcaacatcttctggaatcagaggtgatt c.*5280
. . . . . . g.120886
ttttcttaccttggatgcctgagactaggggagtatagaattccaattggtaattaaggc c.*5340
. . . . . . g.120946
atctttctgctcctgatcagaagggcaggttagttgggagaggtcagatggcacaacaga c.*5400
. . . . . . g.121006
agtcaccttgtaagtaaggcaaagacttgaaggcattagcgtttctcattactaggtcaa c.*5460
. . . . . . g.121066
taacctgagggaatcaatggctttttgccgctctacctcttgtgtatctctttgactttt c.*5520
. . . . . . g.121126
ctttctctgtctagtttcctctgttctcagtttatattctatgttatcagtctctctttc c.*5580
. . . . . . g.121186
cacagtacaaacatccatcctttctcctgtgcaattctgtctctccctcttattatcttt c.*5640
. . . . . . g.121246
atttgtactttttccttcctccctgtctaggcattgggcatgtgcctcttcttagcctgt c.*5700
. . . . . . g.121306
gattttgccttgggactgatgataaattatttccagattcaatcagccctggtcctaccc c.*5760
. . . . . . g.121366
cagtccaatcagaagtatgttggtgggaatcaacctgatcctggccctttcttcttctcc c.*5820
. . . . . . g.121426
attttcattcgtaatccccctcagcagatctttacaagcagtttccttatagctcatgta c.*5880
. . . . . . g.121486
tctttaggtctttgccttccaagcactgtacagaatactttgtggttcctttttagtctg c.*5940
. . . . . . g.121546
acattttgtggagcagtgaagcgtgctcagagacataatcagctgaagagaaaaaatcca c.*6000
. . . . . . g.121606
cccatggatttatatcagctaaatactaataattgattttgtttgatgtgcccataattt c.*6060
. . . . . . g.121666
ttaaagctgcaatataatataatgagggaccacaggtaatttctcctgtcatttgttttg c.*6120
. . . . . . g.121726
gctggatgggggtgggggagtaattgcttaaagttttaccattacacattaaactctcta c.*6180
. . . . . . g.121786
taataatcttgtttggggcttgctaactgttgagctgttttaactaaactggtaggcaat c.*6240
. . . . . . g.121846
cggagttgatttaaatgaaaagataatttaacaaatctatactataaaaagagacatttg c.*6300
. . . . . . g.121906
cttaattgacatgtattttttccttctgagtcacctaaacatttactcttgacaccaact c.*6360
. . . . . . g.121966
gttcatgatactgaatagacagtccatataagagaaattagtggacctaaagaagccaga c.*6420
. . . . . . g.122026
ttgtaggtgttaatttattaaacagagtgcaaagcccttggaaatgtcactgcttggcaa c.*6480
. . . . . . g.122086
taccatatggaatgccaaaatttacaatgacttttctttataagttatccaaaagggatt c.*6540
. . . . . . g.122146
tgaacaagtaagaggttatgccaaaatgtctccaatgtatggtcctgtaatatattgcag c.*6600
. . . . . . g.122206
cttgaagccaatgatcccttatgacttgtatacaactaatgcatgttttattgaattttg c.*6660
. . . . . . g.122266
catttcccacgtgtggtaagttctttaaaatgtttttgatcacctttttgtgccattaaa c.*6720
. . . . . . g.122326
cttgtacagaaaatgtttttatggccattttcaaagggagaaagtttaaaatggaaacag c.*6780
. . . . . . g.122386
cccaccctttctgccctatagctgtagttagaattgagtacctgtagcaaaacagctgta c.*6840
. . . . . . g.122446
attggtggttgtagtgttagaggtgttagcttgctagtgactagctttggagagtaaatg c.*6900
. . . . . . g.122506
catggtattgtacatcacatttcttaactcgttttaacctctgaaaagaatatattcttc c.*6960
. . . . . . g.122566
tttgtagtccttcttcccacccccttgccctctccctctccctgctcccagttgtcttac c.*7020
. . . . . . g.122626
agttgtaaatatctgatttgaggcccaataactcttgccaagtaaagtcagcaaacaaca c.*7080
. . . . . . g.122686
aacaaaccaaaatgtggggaaaaggcatttctcaaccatctctcagcagttattgatcat c.*7140
. . . . . . g.122746
ttcttaaggaacagcattgtgatcaaagactcaactttacgtaaaaatcagtggtaaatt c.*7200
. . . . . . g.122806
ggggttgtatttggccatttgattacatttcaggattgaatagttttcagaatcacatgt c.*7260
. . . . . . g.122866
aatccaaagacagtaggtagtgatgtcccttatccctgcagctgttttaagatagagacc c.*7320
. . . . . . g.122926
tcagaagactctgcttgaccgatgaccaataattatttgaaaaaaaaagaaaaaatgaga c.*7380
. . . . . . g.122986
gaaataaaacagatatttaagaactttagccacctatttagaatagttatagccagaaaa c.*7440
. . . . . . g.123046
aaaaacaagggcatgagttcaaatgcattactatcagtgtcctaggcaatacctaaccta c.*7500
. . . . . . g.123106
ctctgaaattgtgattcaaaagcagtatttcaagaggcattctccttttttggtttgctg c.*7560
. . . . . . g.123166
accccacttggactggtaggtttggtgaggcccccataaaccagctggagcagacccttt c.*7620
. . . . . . g.123226
tcatctcctgtgcctgtaacacccctcttcccccaccccctccgcaattcaatgagggct c.*7680
. . . . . . g.123286
ttcttgggtcagaggacttcaaggttgtctagagaagtttgccatgtgtgtaaggtgctg c.*7740
. . . . . . g.123346
tgaactgtgagtgctgaagattcgcagcattcaataccaggcagccaaagagctgctctt c.*7800
. . . . . . g.123406
gcaattattttggctctcaagctctgttcttcatcgcattctcatttctgtgtacatttg c.*7860
. . . . g.123454
caagatgtgtgtaatgtcattttccaaaaataaaatttgatttcaata c.*7908
(downstream sequence)
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