(used for mutation description)
(last modified January 4, 2010)
This file was created to facilitate the description of sequence variants in the DOK7 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_013072.1, covering DOK7 transcipt NM_173660.4. Selcen et al. (2008) report differential splicing of exons 3+4 in 5-10% of transcripts in about half of control individuals.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. g.5010
gagctatttt c.-61
. . . . . . g.5070
gaaagtgaccctgggctggggcgccggggcgagcgcggcggcgcggaaccatgacagaag c.-1
. . . . . | 02 . g.5206
ATGACCGAGGCGGCGCTGGTGGAGGGCCAGGTCAAGCTGCGGGACGGCAAGAAG | TGGAAG c.60
M T E A A L V E G Q V K L R D G K K | W K p.20
. . . . | 03 . . g.15120
AGTAGGTGGCTGGTGCTGCGGAAGCCGTCGCCCGTGGCAG | ACTGCCTGCTGATGCTGGTC c.120
S R W L V L R K P S P V A D | C L L M L V p.40
. . . . . . g.15180
TACAAGGACAAGTCGGAGCGTATCAAGGGCCTGCGGGAGCGCAGCAGCCTGACGCTAGAG c.180
Y K D K S E R I K G L R E R S S L T L E p.60
. . . . . . g.15240
GACATCTGCGGGCTGGAGCCCGGCCTGCCCTACGAGGGCCTGGTCCACACGCTGGCCATT c.240
D I C G L E P G L P Y E G L V H T L A I p.80
. . . . . . g.15300
GTCTGCCTGTCCCAGGCCATCATGCTGGGCTTTGACAGCCACGAGGCCATGTGTGCGTGG c.300
V C L S Q A I M L G F D S H E A M C A W p.100
. . . | 04 . . . g.18065
GATGCCCGGATCCGCTATGCGCTCGGCGAGG | TGCATAGGTTCCATGTGACAGTGGCTCCA c.360
D A R I R Y A L G E V | H R F H V T V A P p.120
. . . . . . g.18125
GGCACCAAGTTGGAGAGCGGCCCGGCTACCCTGCACCTCTGCAATGATGTCCTCGTCTTG c.420
G T K L E S G P A T L H L C N D V L V L p.140
. . . . . . g.18185
GCCAGGGACATCCCCCCGGCTGTCACGGGGCAGTGGAAGCTGTCTGACCTCCGGCGCTAC c.480
A R D I P P A V T G Q W K L S D L R R Y p.160
. . . . . | 05 . g.27241
GGGGCCGTGCCAAGCGGATTCATCTTTGAAGGCGGGACCAGGTGTGGGTACT | GGGCTGGC c.540
G A V P S G F I F E G G T R C G Y W | A G p.180
. . . . . . g.27301
GTCTTCTTCCTGTCCTCGGCCGAGGGGGAGCAGATCAGCTTCCTGTTCGACTGCATCGTC c.600
V F F L S S A E G E Q I S F L F D C I V p.200
. . . . . | 06 . g.31379
CGAGGCATCTCCCCCACCAAGGGCCCCTTTGGGCTGCGGCCGGTTCTACCAG | ACCCAAGT c.660
R G I S P T K G P F G L R P V L P D | P S p.220
. . . . . . g.31439
CCCCCGGGACCCTCGACTGTGGAGGAGCGTGTGGCCCAGGAAGCCCTGGAAACCCTACAG c.720
P P G P S T V E E R V A Q E A L E T L Q p.240
. . . . . | 07 . g.34461
CTGGAGAAGCGGCTGAGCCTCCTCTCACATGCGGGCAGGCCGGGCAGTGGAG | GGGATGAC c.780
L E K R L S L L S H A G R P G S G G | D D p.260
. . . . . . g.34521
CGCAGCCTGTCCAGCTCATCCTCAGAGGCCAGTCACTTGGACGTCAGCGCCAGCAGCCGG c.840
R S L S S S S S E A S H L D V S A S S R p.280
. . . . . . g.34581
CTCACCGCATGGCCAGAGCAATCCTCGTCGTCAGCCAGCACGTCACAGGAGGGGCCTAGA c.900
L T A W P E Q S S S S A S T S Q E G P R p.300
. . . . . . g.34641
CCAGCAGCTGCCCAGGCCGCCGGGGAAGCCATGGTGGGTGCCTCAAGGCCACCCCCCAAG c.960
P A A A Q A A G E A M V G A S R P P P K p.320
. . . . . . g.34701
CCGCTGCGTCCGCGGCAGCTGCAGGAGGTTGGCCGCCAGAGCTCCTCGGACAGCGGCATC c.1020
P L R P R Q L Q E V G R Q S S S D S G I p.340
. . . . . . g.34761
GCCACTGGCAGCCACTCCTCTTACTCCAGCAGCCTCTCGTCCTACGCGGGCAGCAGCCTG c.1080
A T G S H S S Y S S S L S S Y A G S S L p.360
. . . . . . g.34821
GACGTGTGGCGGGCCACAGATGAACTGGGCTCACTGCTCAGCCTGCCAGCAGCGGGGGCC c.1140
D V W R A T D E L G S L L S L P A A G A p.380
. . . . . . g.34881
CCCGAGCCCAGCCTGTGCACCTGCCTGCCCGGGACAGTCGAGTACCAGGTGCCCACCTCC c.1200
P E P S L C T C L P G T V E Y Q V P T S p.400
. . . . . . g.34941
CTGCGGGCCCACTATGACACACCACGCAGCCTTTGCCTGGCTCCTAGAGACCACAGCCCC c.1260
L R A H Y D T P R S L C L A P R D H S P p.420
. . . . . . g.35001
CCCTCACAGGGCAGCCCCGGCAACAGTGCGGCCAGGGACTCAGGCGGCCAGACGTCCGCC c.1320
P S Q G S P G N S A A R D S G G Q T S A p.440
. . . . . . g.35061
GGGTGTCCCTCTGGCTGGCTGGGCACGAGACGGCGGGGCCTGGTGATGGAGGCCCCCCAG c.1380
G C P S G W L G T R R R G L V M E A P Q p.460
. . . . . . g.35121
GGCAGCGAGGCCACACTGCCTGGCCCTGCCCCTGGCGAGCCCTGGGAAGCAGGCGGCCCC c.1440
G S E A T L P G P A P G E P W E A G G P p.480
. . . . . . g.35181
CACGCGGGGCCACCCCCGGCTTTCTTTTCGGCATGTCCAGTCTGTGGAGGACTCAAGGTA c.1500
H A G P P P A F F S A C P V C G G L K V p.500
. g.35196
AACCCCCCTCCTTGA c.1515
N P P P X p.504
. . . . . . g.35256
gagccgcagatcccgccccgcggctgcaaaggggctgaatttgcccccagatggcagagg c.*60
. . . . . . g.35316
aagtggcgccagcctccttgcagactggtgctctgtgttctgtgggagggaccgggggtc c.*120
. . . . . . g.35376
tcccggagaggggagctggagggcgcgccctgtggctgccaccggaggaaggggctgact c.*180
. . . . . . g.35436
tggggaggtgagttctggaaggcaggggctctgggtccggcaggtcggggtcaccagagc c.*240
. . . . . . g.35496
cccaatgctcagctgcttcactccgtgtcccccacccctgaggatcaggtgagtgctgca c.*300
. . . . . . g.35556
cctctgttggctcgtgccttgcactggggtgccaagggctggaggccctgccgctggcct c.*360
. . . . . . g.35616
tgtcctccttgggcctcacgcccccttcgggggtggccggttctccccatcacctctctg c.*420
. . . . . . g.35676
gggcagtcacaccacctgttaagcatcaagctaccacagaggctccggccacctgggctc c.*480
. . . . . . g.35736
caccagcccagcccccctgggctccgtgtgcgctgggcctcatccccatctatgggagga c.*540
. . . . . . g.35796
aactgaagctcaggaggctgtgtggcttgcggggtctctgggttctgggccccactgttc c.*600
. . . . . . g.35856
cccagtgaagcccttgtgggaaggttccgggagcaggtggtgtcctcagagcagcctcgc c.*660
. . . . . . g.35916
ctgctgaccccactgggagaggcgccgtgcctcgggcccctggtgggagctctgctggct c.*720
. . . . . . g.35976
cctgtctgaacctcctcgcagggccaaaggctggcttggcctgtgtttcccctggcccag c.*780
. . . . . . g.36036
gcctcagcccctgcgtcggaggtggggctgtgttgggcccattgtcccccgccctgggtg c.*840
. . . . . . g.36096
gcttcctcttgcacagcctggagcctgccctgaccacagcccagcagctccctgtgaaca c.*900
. . . . . . g.36156
cctctttgtcccttcactgtcagctgtttctaaacccagacactgtttgtaatagactgg c.*960
. . g.36177
aaataaaatgttctttcctta c.*981
(downstream sequence)
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