(used for variant description)
(last modified May 19, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_025152.2 in the NUBPL gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000014.8, covering NUBPL transcript NM_025152.2.
(upstream sequence)
. . . . . g.5055
actccgcgccacccgcgacagtttcccagcagggctcacagcagcgttccgcgtc c.-1
. . . . . . g.5115
ATGGGGATTTGGCAGCGTCTGCTGCTTTTTGGTGGGGTGTCGCTCCGGGCTGGTGGCGGG c.60
M G I W Q R L L L F G G V S L R A G G G p.20
. . . . | 02 . g.5695
GCCACTGCCCCGCTTGGGGGAAGCCGAGCGATGGTTTGTGGGCGCCAG | TTGTCTGGCGCC c.120
A T A P L G G S R A M V C G R Q | L S G A p.40
. . . . . . g.5755
GGGAGTGAGACCCTAAAACAAAGAAGAACACAAATCATGTCCCGAGGACTTCCAAAGCAG c.180
G S E T L K Q R R T Q I M S R G L P K Q p.60
. . . . . . g.5815
AAACCGATAGAAGGTGTTAAACAAGTTATAGTTGTGGCTTCTGGAAAGGGTGGAGTCGGA c.240
K P I E G V K Q V I V V A S G K G G V G p.80
. | 03 . . . . | 04 . g.42913
AAATCTACTACAGCAG | TGAATCTTGCACTTGCACTAGCAGCGAACGATTCG | TCCAAGGCC c.300
K S T T A V | N L A L A L A A N D S | S K A p.100
. . . . . . g.42973
ATTGGTTTGCTAGATGTGGATGTGTATGGACCTTCAGTTCCAAAGATGATGAATCTGAAA c.360
I G L L D V D V Y G P S V P K M M N L K p.120
. . | 05 . . . . g.117008
GGAAATCCGGAATTATCACAGA | GCAACCTAATGAGGCCTCTCTTGAATTATGGTATTGCT c.420
G N P E L S Q S | N L M R P L L N Y G I A p.140
| 06 . . . . . . g.117157
TG | TATGTCTATGGGCTTTCTGGTTGAAGAAAGTGAACCAGTAGTTTGGAGAGGCCTTATG c.480
C | M S M G F L V E E S E P V V W R G L M p.160
. . . | 07 . . . g.231422
GTAATGTCGGCCATTGAGAAATTGTTGAGGCAG | GTAGATTGGGGTCAACTGGACTACTTA c.540
V M S A I E K L L R Q | V D W G Q L D Y L p.180
. . . . . . g.231482
GTTGTAGACATGCCACCAGGAACTGGAGATGTGCAGTTATCAGTCTCACAGAATATTCCT c.600
V V D M P P G T G D V Q L S V S Q N I P p.200
| 08. . . . . . g.270297
ATAACAG | GTGCTGTGATTGTCTCCACGCCCCAGGACATCGCATTGATGGATGCACACAAG c.660
I T G | A V I V S T P Q D I A L M D A H K p.220
. . . | 09 . . . g.290113
GGTGCTGAGATGTTTCGCAGAGTCCACGTGCCC | GTCCTTGGCCTTGTCCAAAACATGAGT c.720
G A E M F R R V H V P | V L G L V Q N M S p.240
. . . . . . g.290173
GTTTTCCAGTGTCCAAAATGTAAACACAAAACTCATATTTTTGGTGCTGATGGTGCAAGG c.780
V F Q C P K C K H K T H I F G A D G A R p.260
. . . | 10 . . . g.293760
AAACTAGCACAGACCCTTGGTCTTGAAGTTCTAG | GAGACATTCCCTTACACCTTAATATA c.840
K L A Q T L G L E V L G | D I P L H L N I p.280
. . . . . | 11. g.302736
AGGGAAGCTTCAGATACAGGCCAGCCAATTGTGTTTTCACAGCCTGAAAGTGATGAG | GCC c.900
R E A S D T G Q P I V F S Q P E S D E | A p.300
. . . . . . g.302796
AAAGCTTACTTGAGGATTGCTGTGGAAGTGGTAAGAAGATTGCCATCACCTTCAGAATGA c.960
K A Y L R I A V E V V R R L P S P S E X p.319
. . . . . . g.302856
ttccccaagtgtcctggaaatttgcctggtactgacattaagaggacctttggaaatcag c.*60
. . . . . . g.302916
caatgtggtgatggaacctacagaaataatagaaatcataactgttttatttctaaggaa c.*120
. . . . . . g.302976
agaatgtcttcatatttgacttgctaagctaaggttcacaaaactttgatgtatcaatgt c.*180
. . . . . . g.303036
taactgctatatttaggaattttttgaaagctggtgtgtaccacctgcaaagaactgcat c.*240
. . . . . . g.303096
tttattttattgaattacccctttagaaatcacgagtttatgatgttacaagtccatttt c.*300
. . . . . . g.303156
gggagagaactgtacactttttgcaggaccacagaattagtaatttaaatgatatactaa c.*360
. . . . . . g.303216
atttgtgtatgggcataagtattacgccttcccaccaggcaatttggactgtctttgaat c.*420
. . . . . . g.303276
cctgtctttggtactgtcttggacatgttcttaatatgaacctctgcttcttcatctgga c.*480
. . . . . . g.303336
tcacactataccccagacttaatgaatttcagtctccaggagtggagcctgaacatatgt c.*540
. . . . . . g.303396
atttttagtaagaccatgatgatgttgatgatgattctggtaatcatggcagtaagaata c.*600
. . . . . . g.303456
atagctaacatttaacaagttaattataattgttcttccatttgtgtgagtgggtactat c.*660
. . . . . . g.303516
tatctccattttacagataagtaatttgagatataatttgaaggcactcaaccttgagtg c.*720
. . . . . . g.303576
tcttgctgagggttactgtatctagcaggtgatggagcttggatttgaacttgagtaatt c.*780
. . . . . . g.303636
cgatattagattcatctttttgtacaccaatgtgcttttgttaattaaaaaaagtcggtg c.*840
. . . . . . g.303696
gtggctaggcgtggtggctcacgcctgtaatcccagcactttgggaggttgaggtgggtg c.*900
. . . . . . g.303756
gatcatgaggtcaggagttcaagaccagcctgaccaacatggtgaaaccccgtctctact c.*960
. . . . . . g.303816
aaaaatacaaaaattagctgggtgtggtggcatatgcctgtaatcccagctactcgggag c.*1020
. . . . . . g.303876
gctgaggcaggagaatcatttcaacccgggaggctgaggttgcagtgagtggagattgta c.*1080
. . . . . . g.303936
ccactgcactccagcctggtcaatggagtgcgactccatctcaaaaaaaaaaaaaaaaaa c.*1140
. . . . . . g.303996
aaaaaaagtcgggggagatgcaatatttagcatttcctcaaactttttttggccatgaaa c.*1200
. . . . . . g.304056
tccaccacccccctcctttttcagagcatttcatgaagttcacatttcaaataatacatt c.*1260
. . . . . . g.304116
ttgaaaaacatttatcttgtctaattgaagctcaaagagatagagtcaatgacttttcaa c.*1320
. . . . . . g.304176
agtcaggtagcagatagttttaaagctgcaagtactgataagtgtgagccattagttaat c.*1380
. . . . . . g.304236
tcgcatttataaagaagtggtctgtcacttttggcaaatgtcttgacatctgttgctcta c.*1440
. . . . . . g.304296
cagttgtcaactagaaaattaggcatagagtttcacattattataagcatgttttcacac c.*1500
. . . . . . g.304356
aaaaacatgtacattgatgtttattgcaattttatgtgtaataaccaaaaacaacccaga c.*1560
. . . . . . g.304416
ttttcttcattgggtaaatgattaaacaaaccatagtacattcataccgtgagtgctact c.*1620
. . . . . . g.304476
cagcaataaaaaagaacaaactatgggtacaggcagcaacttataattccagagaattat c.*1680
. . . . . . g.304536
gctgaatgaaaaaggccaatttaaaaaggttttgtaccaaaagattccatttatataacg c.*1740
. . . . . . g.304596
ttcttgaagtgacataattatagaaatggagaacagattagtggtggctgtgttaaggag c.*1800
. . . . . . g.304656
ggggtgaggatgggagagaattgggcgtggctgtgagaaacatgagggatccttgtgatg c.*1860
. . . . . . g.304716
atggaaatgttctatatcacagctatcgatgtcagtatcccagttgtgatattgtgctat c.*1920
. . . . . . g.304776
agttttgcaagatgttaccactgggggaaattgggtgaagggcacatggaatctctgtat c.*1980
. . . . . . g.304836
tatttcaactgcatgtaaatctacaattatctcaaaataaaaataaaagttaaaaaaaca c.*2040
g.304840
caaa c.*2044
(downstream sequence)
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