(used for variant description)
(last modified April 11, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_198887.1 in the NUP43 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering NUP43 transcript NM_198887.1.
(upstream sequence)
. . . . . g.5057
gctgagaggcgcgtactgtgcttgctttttgcagtacctgctgcggccgctttcggc c.-1
. . . . . . g.5117
ATGGAGGAAATTTATGCGAAGTTTGTGTCCCAGAAAATCAGCAAAACCCGCTGGCGACCG c.60
M E E I Y A K F V S Q K I S K T R W R P p.20
. . . . . . g.5177
CTGCCTCCGGGAAGTTTACAGACCGCGGAGACGTTCGCTACAGGATCTTGGGACAATGAG c.120
L P P G S L Q T A E T F A T G S W D N E p.40
| 02 . . . . . . g.5550
| GAAAATTATATTTCACTGTGGTCTATTGGAGATTTTGGAAACTTGGACTCTGATGGAGGG c.180
| E N Y I S L W S I G D F G N L D S D G G p.60
. . . . . . g.5610
TTTGAAGGAGACCATCAGTTATTGTGTGATATCAGACACCATGGTGATGTAATGGATTTA c.240
F E G D H Q L L C D I R H H G D V M D L p.80
| 03 . . . . . . g.7894
CAG | TTTTTTGACCAGGAAAGAATTGTCGCTGCTTCATCAACAGGATGTGTAACAGTTTTC c.300
Q | F F D Q E R I V A A S S T G C V T V F p.100
. . | 04 . . . . g.9021
CTTCACCATCCAAATAACCAG | ACTCTGTCAGTCAACCAGCAGTGGACTACAGCTCACTAC c.360
L H H P N N Q | T L S V N Q Q W T T A H Y p.120
. . . . . . g.9081
CACACAGGCCCTGGCAGTCCTTCCTATAGCAGTGCACCATGTACAGGTGTTGTGTGCAAC c.420
H T G P G S P S Y S S A P C T G V V C N p.140
. . . . . . g.9141
AACCCAGAAATCGTTACAGTTGGAGAGGATGGTCGAATAAATCTCTTCAGAGCTGATCAC c.480
N P E I V T V G E D G R I N L F R A D H p.160
. . | 05 . . . . g.12812
AAGGAAGCTGTAAGAACCATAG | ACAATGCAGATAGTAGTACACTCCATGCTGTAACCTTT c.540
K E A V R T I D | N A D S S T L H A V T F p.180
. . . . . . g.12872
CTTCGAACTCCTGAGATTCTTACTGTAAATTCAATTGGACAGTTGAAAATATGGGATTTC c.600
L R T P E I L T V N S I G Q L K I W D F p.200
. . . | 06 . . g.14952
AGACAACAAGGAAATGAGCCTTCTCAGATATTGTCACT | GACTGGTGACCGAGTGCCACTC c.660
R Q Q G N E P S Q I L S L | T G D R V P L p.220
. . . . . . g.15012
CACTGTGTTGATAGACATCCCAACCAACAGCATGTTGTAGCTACTGGTGGCCAAGATGGA c.720
H C V D R H P N Q Q H V V A T G G Q D G p.240
. . . . . . g.15072
ATGTTGAGTATTTGGGATGTTAGACAAGGTACTATGCCTGTATCTCTGCTGAAGGCTCAT c.780
M L S I W D V R Q G T M P V S L L K A H p.260
. | 07 . . . . . g.19867
GAAGCTGAAA | TGTGGGAAGTTCACTTTCACCCATCCAACCCAGAACATCTTTTTACCTGC c.840
E A E M | W E V H F H P S N P E H L F T C p.280
. . . . . . g.19927
TCTGAAGATGGATCCCTCTGGCACTGGGATGCTTCCACAGATGTACCTGAAAAGTCGTCA c.900
S E D G S L W H W D A S T D V P E K S S p.300
. | 08 . . . . . g.24401
CTCTTTCACCAAG | GAGGAAGAAGCAGTACTTTTTTGTCTCATAGCATTAGTAACCAAGCT c.960
L F H Q G | G R S S T F L S H S I S N Q A p.320
. . . . . . g.24461
AATGTTCACCAGTCTGTCATTAGCTCCTGGCTCAGCACTGATCCTGCAAAAGACCGAATT c.1020
N V H Q S V I S S W L S T D P A K D R I p.340
. . . . . . g.24521
GAAATCACAAGCTTACTTCCCAGTAGGTCTCTGTCTGTGAACACTTTGGATGTTTTAGGT c.1080
E I T S L L P S R S L S V N T L D V L G p.360
. . . . . . g.24581
CCTTGTCTTGTTTGTGGAACCGATGCAGAAGCAATTTATGTTACTAGACATCTTTTTTCG c.1140
P C L V C G T D A E A I Y V T R H L F S p.380
g.24584
TAG c.1143
X p.380
. . . . . . g.24644
aagtactataattataagatttcagatagaacatgcaattagccttttgaaatccaactt c.*60
. . . . . . g.24704
ctgtgcaaaattttagtatcagaaaatacgagatttgcaggggaaacatcagtaaactac c.*120
. . . . . . g.24764
cattaatgtcaatgcccagttttgacttttgttagcctgacactcccaaacagttgtaga c.*180
. . . . . . g.24824
atccgatagatgactgatggcaaaagattgtgaacatgtggaagaaaatcagtgggattc c.*240
. . . . . . g.24884
tggtgctgatgaataggttgccttcagagtattattgacagacagcttgtggaactaatt c.*300
. . . . . . g.24944
ctttatttttgatgttgtgggaattaacacatcaatggtggttatgggaactaccaatgg c.*360
. . . . . . g.25004
gttcctacaatttttatcagtagtatgtggcatatacaccttcctagtggcagttgccaa c.*420
. . . . . . g.25064
tgttaatgattattctttttattgcaagtatttcctatgatccttccacactttatttcc c.*480
. . . . . . g.25124
ttaataataataaactttttcagaaagaattgagtagagcaaaaatgacaaagatgtgta c.*540
. . . . . . g.25184
gctgtgttcaatttttttttttttttttttttgaggcagagtcttgctctgctggagtgc c.*600
. . . . . . g.25244
ggtggtgcaatctcggctcactgcaacctccacctcccaggttcaagcaattctcctgcc c.*660
. . . . . . g.25304
tcagtctcctgagtagctggaactacaggtgtgcgccaccacgcccagctaatttttgta c.*720
. . . . . . g.25364
attttagtagagacagagtttcaccatgttggccaggatggtctcgatctcttgacctca c.*780
. . . . . . g.25424
tgatccacccgcctcgacctcccaaagtgctgtgattacaggtgtgagccactgcacccg c.*840
. . . . . . g.25484
gcctgaaatttttttaaggtgaaaatgttttgacaagttcctttttcagaataggttttt c.*900
. . . . . . g.25544
gagcagaactctttcagcttgttagacccaactttgcttttgtttagcttcacagcatag c.*960
. . . . . . g.25604
ctgaaagttgccaaactggacattgtgcaataaagtagaattctatattgataagcaaac c.*1020
. . . . . . g.25664
tatttccaaactaaaaatgtgatagataaaagtgtgattaatcaaatgatatgatcagag c.*1080
. . . . . . g.25724
taaagaattttgccattttgatccttttactttgttttagccacctatagtgttaccaac c.*1140
. . . . . . g.25784
catctttatccttgtctgcagggataataatgaactaatgtagtgttttaagataattta c.*1200
. . . . . . g.25844
atgatactatctttccaaactttgttagattttaaatgtattattgacctgagaccttaa c.*1260
. . . . . . g.25904
tgacaaatcactgctattagacaattgaagtgttcatttactttgtaattccaataatca c.*1320
. . . . . . g.25964
tagttatggaattatggtaaggttttgcttttctgtcctaataaatatatatattttttg c.*1380
. . . . . . g.26024
agatggagttttgctcttgttgctgaggctggagtgaaatggcatgatctcagctcactg c.*1440
. . . . . . g.26084
caacctccgtctcttaggttcaagcaattctcctgcctcagcctcccgagtagctgggat c.*1500
. . . . . . g.26144
tacaggtgctcaccaccacacccagctaatttttgtatttttagtagagatggggtttca c.*1560
. . . . . . g.26204
ctgtgttggccaggctggtcttgaactgacctcatgatccacctgcctcagcctcccaaa c.*1620
. . . . . . g.26264
atgctgggattacaggcttgagccactgctcccggctgatttttgtattagtagagacga c.*1680
. . . . . . g.26324
cagggtttcaccatgttggccagggctggtctcgaactcctgaccacaggtaatcagccc c.*1740
. . . . . . g.26384
gcctcggcctcccaaagtgctgggattacaggcgtgagccacttagtatttgtaaccata c.*1800
. . . . . . g.26444
agagaaagtatattttaacagcattacatttcatgccaattgacaagttttgccaatttt c.*1860
. . . . . . g.26504
aataagaaactaagctttatgtaatgtaacaccgtaatttatgaatttgttcattgtcac c.*1920
. . . . . . g.26564
tgcctttattcatgaaactgtcaaatagagtgtctttcaagggttgcaggatcttagaga c.*1980
. . . . . . g.26624
tagaaagtaccttggtgatcatctccagcctaaatttcatcatcccttctatggtattcc c.*2040
. . . . . . g.26684
caacaaattatcatccaacctatacttaaaaacatatggtggccaggcatggtggctcac c.*2100
. . . . . . g.26744
gcctgtaatgctagcactttgggaggccgaggtgggtgaagcacctgaggtcaagagttc c.*2160
. . . . . . g.26804
gagatcagcctggccaacatggcgaaaccccgtctccactaaaaatgcaaaaaaaaaatt c.*2220
. . . . . . g.26864
aaccgggcgtggtggcaggcatctataatcccagctacttgggaggctgaggcaggagaa c.*2280
. . . . . . g.26924
ttgctcaaacccgggaggcagaggttgcagtgacccaagatcgtgccacttcactccagc c.*2340
. . . . . . g.26984
ctgggcaaaagagcaaaacgccatctcaaaaaatatacatatataaggagataaagtttc c.*2400
. . . . . . g.27044
ccattttccaatacagtttcacatttgaacagccctaattgatacaactttatggcaggg c.*2460
. . . . . . g.27104
ttttagtgtgtgagtgggatccaaaacactcaatcctgtaaaagggtacagtcctattgt c.*2520
. . . . . . g.27164
atgttaacacactgatgatgtgagcctgtgagatgagccaatcaccagttgttatgttcg c.*2580
. . . . . . g.27224
aatctgctttgtgttgggacgctttaatgtcagggtttcactaaataaatgaattttcat c.*2640
g.27232
atactgaa c.*2648
(downstream sequence)
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