(used for variant description)
(last modified October 21, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_001017930.1 in the DCAF8L1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000023.10, covering DCAF8L1 transcript NM_001017930.1.
(upstream sequence)
. . . . . g.5055
gcttacctactgccttctccgaccgtccgtcctcggggcaggcgtgctctcttcc c.-61
. . . . . . g.5115
ctgagcttttaggggttggcttttccagttccagatcagctacagcaaacatcgttcgag c.-1
. . . . . . g.5175
ATGTCCCACCAAGAGGGCAGCACAGGTGGCTTACCAGACTTAGTGACTGAAAGCCTGTTC c.60
M S H Q E G S T G G L P D L V T E S L F p.20
. . . . . . g.5235
AGCAGCCCAGAGGAGCAGTCTGGAGTAGCAGCGGTGACGGCGGCCTCCTCAGACATTGAA c.120
S S P E E Q S G V A A V T A A S S D I E p.40
. . . . . . g.5295
ATGGCAGCCACAGAGCCATCGACCGGAGATGGTGGTGATACCAGGGATGGTGGTTTCCTG c.180
M A A T E P S T G D G G D T R D G G F L p.60
. . . . . . g.5355
AACGATGCCAGCACAGAAAATCAAAACACAGACTCAGAAAGTTCAAGTGAAGACGTCGAA c.240
N D A S T E N Q N T D S E S S S E D V E p.80
. . . . . . g.5415
CTTGAAAGCATGGGTGAAGGTTTATTTGGTTACCCGTTAGTGGGAGAGGAGACAGAAAGG c.300
L E S M G E G L F G Y P L V G E E T E R p.100
. . . . . . g.5475
GAGGAGGAAGAAGAAGAGATGGAGGAGGAAGGGGAGGAGGAAGAACAGCCTCGGATGTGT c.360
E E E E E E M E E E G E E E E Q P R M C p.120
. . . . . . g.5535
CCACGATGCGGTGGCACCAACCATGATCAGTGTTTGTTAGACGAGGATCAGGCGTTGGAG c.420
P R C G G T N H D Q C L L D E D Q A L E p.140
. . . . . . g.5595
GAGTGGATTTCCTCAGAGACATCTGCCCTGCCCCGATCTCGCTGGCAAGTCCTTACTGCT c.480
E W I S S E T S A L P R S R W Q V L T A p.160
. . . . . . g.5655
CTTCGCCAGCGGCAGCTGGGTTCAAGTGCCCGCTTTGTATATGAGGCCTGTGGGGCAAGA c.540
L R Q R Q L G S S A R F V Y E A C G A R p.180
. . . . . . g.5715
ACCTTTGTGCAGCGTTTCCGCCTGCAGTATCTTCTTGGAAGCCATGCCGGTTCTGTCAGT c.600
T F V Q R F R L Q Y L L G S H A G S V S p.200
. . . . . . g.5775
ACCATACACTTTAACCAGCGTGGCACCCGACTGGCCAGTAGCGGTGATGACTTAAGGGTG c.660
T I H F N Q R G T R L A S S G D D L R V p.220
. . . . . . g.5835
ATAGTGTGGGACTGGGTGCGGCAGAAGCCAGTACTGAACTTTGAGAGTGGTCACGATATT c.720
I V W D W V R Q K P V L N F E S G H D I p.240
. . . . . . g.5895
AATGTCATCCAGGCTAAGTTCTTTCCTAACTGTGGTGATTCCACTCTGGCCATGTGTGGC c.780
N V I Q A K F F P N C G D S T L A M C G p.260
. . . . . . g.5955
CATGATGGACAGGTACGGGTAGCAGAACTAATTAATGCATCATATTGCGAGAATACTAAG c.840
H D G Q V R V A E L I N A S Y C E N T K p.280
. . . . . . g.6015
CGTGTGGCCAAGCACAGGGGACCTGCCCACGAGTTGGCTCTGGAGCCAGACTCTCCTTAT c.900
R V A K H R G P A H E L A L E P D S P Y p.300
. . . . . . g.6075
AAGTTCCTCACTTCAGGTGAAGATGCCGTTGTGTTCACCATTGACCTCAGGCAAGACCGG c.960
K F L T S G E D A V V F T I D L R Q D R p.320
. . . . . . g.6135
CCAGCTTCAAAAGTTGTGGTAACAAGAGAAAATGATAAGAAAGTCGGACTGTATACAATC c.1020
P A S K V V V T R E N D K K V G L Y T I p.340
. . . . . . g.6195
TCTATGAATCCTGCCAATATTTACCAATTTGCAGTGGGTGGACATGATCAGTTTGTAAGG c.1080
S M N P A N I Y Q F A V G G H D Q F V R p.360
. . . . . . g.6255
ATTTATGACCAGAGGAGAATTGATAAGAAAGAAAACAATGGAGTACTCAAGAAATTCACT c.1140
I Y D Q R R I D K K E N N G V L K K F T p.380
. . . . . . g.6315
CCTCATCATCTGGTTTATTGTGATTTCCCAACAAACATCACCTGCGTTGTGTACAGCCAC c.1200
P H H L V Y C D F P T N I T C V V Y S H p.400
. . . . . . g.6375
GATGGCACAGAGCTCCTGGCCAGCTACAATGATGAAGATATTTACCTCTTCAACTCCTCT c.1260
D G T E L L A S Y N D E D I Y L F N S S p.420
. . . . . . g.6435
CTCAGTGATGGTGCTCAATATGTTAAGAGATATAAGGGGCACAGAAATAATGACACAATC c.1320
L S D G A Q Y V K R Y K G H R N N D T I p.440
. . . . . . g.6495
AAATGTGTTAATTTCTATGGCCCCCGGAGTGAGTTTGTCGTGAGCGGTAGTGATTGTGGG c.1380
K C V N F Y G P R S E F V V S G S D C G p.460
. . . . . . g.6555
CACGTCTTCTTCTGGGAGAAATCATCCTCCCAGATCATCCAGTTCATGGAGGGGGACAGA c.1440
H V F F W E K S S S Q I I Q F M E G D R p.480
. . . . . . g.6615
GGAGATATAGTAAACTGTCTTGAACCCCACCCTTACCTACCTGTGTTGGCGACCAGTGGC c.1500
G D I V N C L E P H P Y L P V L A T S G p.500
. . . . . . g.6675
CTAGATCAGCATGTCAGGATCTGGACACCCACAGCTAAAACTGCCACTGAGCTTACTGGG c.1560
L D Q H V R I W T P T A K T A T E L T G p.520
. . . . . . g.6735
TTAAAAGATGTGATTAAGAAGAACAAGCAGGAGCGAGATGAAGACAACTTGAACTATACG c.1620
L K D V I K K N K Q E R D E D N L N Y T p.540
. . . . . . g.6795
GACTCGTTTGACAACCGCATGCTTCGGTTCTTCGTGCGTCACCTGTTACAGAGAGCTCAT c.1680
D S F D N R M L R F F V R H L L Q R A H p.560
. . . . . . g.6855
CAACCCGGCTGGAGAGATCATGGAGCTGAGTTCCCAGATGAAGAAGAGTTGGATGAGTCT c.1740
Q P G W R D H G A E F P D E E E L D E S p.580
. . . . . . g.6915
TCCAGCACCTCAGATACATCCGAGGAGGAGGGCCAAGATCGAGTGCAGTGCATACCATCC c.1800
S S T S D T S E E E G Q D R V Q C I P S p.600
g.6918
TGA c.1803
X p.600
. . . . . . g.6978
aggcctcatatccagtccagctagatgccacctaagtacactggactttaaaattcagtt c.*60
. . . . . . g.7038
tgactaatttagaattgtcaattgattaacagatttgctttttgtcttctgtttttgtta c.*120
. . . . . . g.7098
ccccttatatgagtgcatacacaacttatttatgcctcttttcctttgttcccttataat c.*180
. . . . . . g.7158
tgacctctaaaattgcataattttgttgaaaaaattaatggccttattagatgtatctac c.*240
. . . . . . g.7218
tcatttcagacattctgaaagctattactttttagttttttcattttttaccaatttatt c.*300
. . . . . . g.7278
ttgaagataaagttcttcagttgagttgaaaatttcataaacgtgtttattctttagagg c.*360
. . . . . . g.7338
taaaataaggcaaaccatagttctttgaatactgacacacacatacacacagtctcagaa c.*420
. . . . . . g.7398
aaggaaaagagaagtagtgtgtagattaattcctaacacttggccacacacacacacagc c.*480
. . . . . . g.7458
ttcaaaagttgtagtaacaagagagaagaataagaaagtgggactgtatacaatctctat c.*540
. . . . . . g.7518
gaatcctgccaatatttaccaattcgcagtgggtggacatgatcggtttttaaggattta c.*600
. . . . . . g.7578
tgaccagaggagaattgatgagaaagaaaacaatggagtactcaagaaattcactcttca c.*660
. . . . . . g.7638
tcatctggttaattgtgattttccaacaaacatcacctgcattgtgtacagccacgatgg c.*720
. . . . . . g.7698
cacagagctcctggccagctatgcacacacacatacacacagagccttagaaaaggaaaa c.*780
. . . . . . g.7758
caagaagtagtgtgtagatgaattcctaaccagataattcatctcctcagagcaaataac c.*840
. . . . . . g.7818
ttgggattatccacattttctgaatcaatatgttaataatattgattaatttgagcacac c.*900
. . . . . . g.7878
tgaagctggtaagaactaaattaaatttaatcacatgacattgtttactctatgcattaa c.*960
. . . . . . g.7938
atgttcttgaagttttatggttgggaactcccacaggattacattccaggaagtcctcct c.*1020
. . . . . . g.7998
ggcgcaagcatctcctataagataccagataggaatataaaaatctctcatatttgaaaa c.*1080
. . . . . . g.8058
catttattttaattaacttttaagaataagttgcaataaaaattgtttatacttacacat c.*1140
. . . . . . g.8118
aaccatttgatacagttggtagaaaaatcctatttaacatccatgcattgcttaaaattt c.*1200
. . . . . . g.8178
agctgttttatgagtttgttttgaaaattgttgcaataaaaattgtttatacttacaagt c.*1260
. . . . . . g.8238
gatgtagttggtagaaaaatcctatttgacatccatgcattgcttaaaatttagctgttt c.*1320
. . . . . . g.8298
tatgagtttgttttaaaaattgttgcagtaaaaattgtttatacttacaagtgatgtagt c.*1380
. . . . . . g.8358
tggtagaaaaatcctatttgacatccatggattgcttaaagttctctcagctgtcctcga c.*1440
. . . . . . g.8418
gtttaaattgttttaaaaattgtcttaagctttacttaatataaatttaagttactagat c.*1500
. . . g.8457
gttaaattactgttcaataaaaatattcatttttatttt c.*1539
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 29
©2004-2023 Leiden University Medical Center