(used for variant description)
(last modified June 8, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_016525.4 in the UBAP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000009.11, covering UBAP1 transcript NM_016525.4.
(upstream sequence)
g.5003
aga c.-241
. . . . . . g.5063
cgcccaaatgagtggggcggtgaggggaaggaggagggaagtaggacttcaacatggcgg c.-181
. . . . . . g.5123
ctgcggcactggcggtggctacggtgacggcctggcccggagcgggcagagttggaggtg c.-121
. . . . . . g.5183
gtggcgttcgctctccctaggggctgtcgggagctcagcggggaccgagcctgggaggcc c.-61
. . . . . . | 02 g.46910
ggccggtgccagcacctttcggcttctgagacggcggcagcagcggcattcag | gttctaa c.-1
. . . | 03 . . . g.60237
ATGGCTTCTAAGAAGTTGGGTGCAGATTTTCATG | GGACTTTCAGTTACCTTGATGATGTC c.60
M A S K K L G A D F H G | T F S Y L D D V p.20
. . . . . . g.60297
CCATTTAAGACAGGAGACAAATTCAAAACACCAGCTAAAGTTGGTCTACCTATTGGCTTC c.120
P F K T G D K F K T P A K V G L P I G F p.40
. . . | 04 . . g.67201
TCCTTGCCTGATTGTTTGCAGGTTGTCAGAGAAGTACAG | TATGACTTCTCTTTGGAAAAG c.180
S L P D C L Q V V R E V Q | Y D F S L E K p.60
. . . . . . g.67261
AAAACCATTGAGTGGGCTGAAGAGATTAAGAAAATCGAAGAAGCCGAGCGGGAAGCAGAG c.240
K T I E W A E E I K K I E E A E R E A E p.80
. . . . . . g.67321
TGCAAAATTGCGGAAGCAGAAGCTAAAGTGAATTCTAAGAGTGGCCCAGAGGGCGATAGC c.300
C K I A E A E A K V N S K S G P E G D S p.100
. . . . . . g.67381
AAAATGAGCTTCTCCAAGACTCACAGTACAGCCACAATGCCACCTCCTATTAACCCCATC c.360
K M S F S K T H S T A T M P P P I N P I p.120
. . . . . . g.67441
CTCGCCAGCTTGCAGCACAACAGCATCCTCACACCAACTCGGGTCAGCAGTAGTGCCACG c.420
L A S L Q H N S I L T P T R V S S S A T p.140
. . . . . . g.67501
AAACAGAAAGTTCTCAGCCCACCTCACATAAAGGCGGATTTCAATCTTGCTGACTTTGAG c.480
K Q K V L S P P H I K A D F N L A D F E p.160
. . . . . . g.67561
TGTGAAGAAGACCCATTTGATAATCTGGAGTTAAAAACTATTGATGAGAAGGAAGAGCTG c.540
C E E D P F D N L E L K T I D E K E E L p.180
. . . . . . g.67621
AGAAATATTCTGGTAGGAACCACTGGACCCATTATGGCTCAGTTATTGGACAATAACTTG c.600
R N I L V G T T G P I M A Q L L D N N L p.200
. . . . . . g.67681
CCCAGGGGAGGCTCTGGGTCTGTGTTACAGGATGAGGAGGTCCTGGCATCCTTGGAACGG c.660
P R G G S G S V L Q D E E V L A S L E R p.220
. . . . . . g.67741
GCAACCCTAGATTTCAAGCCTCTTCATAAACCCAATGGCTTTATAACCTTACCACAGTTG c.720
A T L D F K P L H K P N G F I T L P Q L p.240
. . . . . . g.67801
GGCAACTGTGAAAAGATGTCACTGTCTTCCAAAGTGTCCCTCCCCCCTATACCTGCAGTA c.780
G N C E K M S L S S K V S L P P I P A V p.260
. . . . . . g.67861
AGCAATATCAAATCCCTGTCTTTCCCCAAACTTGACTCTGATGACAGCAATCAGAAGACA c.840
S N I K S L S F P K L D S D D S N Q K T p.280
. . . . . . g.67921
GCCAAGCTGGCGAGCACTTTCCATAGCACATCCTGCCTCCGCAATGGCACGTTCCAGAAT c.900
A K L A S T F H S T S C L R N G T F Q N p.300
. . . . . . g.67981
TCCCTAAAGCCTTCCACCCAAAGCAGTGCCAGTGAGCTCAATGGGCATCACACTCTTGGG c.960
S L K P S T Q S S A S E L N G H H T L G p.320
. . . . . . g.68041
CTTTCAGCTTTGAACTTGGACAGTGGCACAGAGATGCCAGCCCTGACATCCTCCCAGATG c.1020
L S A L N L D S G T E M P A L T S S Q M p.340
. . . . . . g.68101
CCTTCCCTCTCTGTTTTGTCTGTGTGCACAGAGGAATCATCACCTCCAAATACTGGTCCC c.1080
P S L S V L S V C T E E S S P P N T G P p.360
| 05 . . . . . . g.75831
ACG | GTCACCCCTCCTAATTTCTCAGTGTCACAAGTGCCCAACATGCCCAGCTGTCCCCAG c.1140
T | V T P P N F S V S Q V P N M P S C P Q p.380
. . . . . . g.75891
GCCTATTCTGAACTGCAGATGCTGTCCCCCAGCGAGCGGCAGTGTGTGGAGACGGTGGTC c.1200
A Y S E L Q M L S P S E R Q C V E T V V p.400
. . . . . . g.75951
AACATGGGCTACTCGTACGAGTGTGTCCTCAGAGCCATGAAGAAGAAAGGAGAGAATATT c.1260
N M G Y S Y E C V L R A M K K K G E N I p.420
| 06 . . . . . . g.76707
GAGCAG | ATTCTCGACTATCTCTTTGCACATGGACAGCTTTGTGAGAAGGGCTTCGACCCT c.1320
E Q | I L D Y L F A H G Q L C E K G F D P p.440
. . . . | 07 . g.77399
CTTTTAGTGGAAGAGGCTCTGGAAATGCACCAGTGTTCAGAAGAAAAG | ATGATGGAGTTT c.1380
L L V E E A L E M H Q C S E E K | M M E F p.460
. . . . . . g.77459
CTTCAGTTAATGAGCAAATTTAAGGAGATGGGCTTTGAGCTGAAAGACATTAAGGAAGTT c.1440
L Q L M S K F K E M G F E L K D I K E V p.480
. . . . . . g.77519
TTGCTATTACACAACAATGACCAGGACAATGCTTTGGAAGACCTCATGGCTCGGGCAGGA c.1500
L L L H N N D Q D N A L E D L M A R A G p.500
g.77528
GCCAGCTGA c.1509
A S X p.502
. . . . . . g.77588
gaccaggccctgcctaggccctgccgcagaaccaccatccctgggaggccctgcagagcc c.*60
. . . . . . g.77648
cacctgtggggaaagagaaggggcagcttccggattttcttttgggggttagaaggtcag c.*120
. . . . . . g.77708
gtgtggagactgctcgccagtctctgtgagcctaggccctgagctggggaggtggggaag c.*180
. . . . . . g.77768
attcgggcatgtgagtgcccccagaactgtcctggctccttccgtattaaacgcatttgc c.*240
. . . . . . g.77828
attttgagaagtgtccttcccacttcagccctccggagagactaccctagtctttctggg c.*300
. . . . . . g.77888
gtgtttatgtcctcagctgaagcctggcctagttgctgagaggggctggggagatggggc c.*360
. . . . . . g.77948
gggagggccagactcagtgctgctgtggagctaggtgcttcccccttcccctgagactgg c.*420
. . . . . . g.78008
tggactgaactccagtcaagttgagttcaagtgaaagattcttccagggttttatttttt c.*480
. . . . . . g.78068
cccctcctaacaaagtctcatagtgttaacactggttctgcaatatctctgaggtgcaaa c.*540
. . . . . . g.78128
gaatgcacttttccctatggggcccagagtttgccttttctgccaggcagtcaccatgct c.*600
. . . . . . g.78188
tccctaccccagcctgtttcttttggcttggtttggaccacagtcctctgctacccaggg c.*660
. . . . . . g.78248
ttttagagcccctgctctaggaaacagtttaagaaatcattggccccttcccagcacatt c.*720
. . . . . . g.78308
gaatgggtaagcagacaggccatgatttagttggccagcactaactccacctctgttctc c.*780
. . . . . . g.78368
cttgaacagcttcccctccagcccactgctttaggatgacacaatgaataacacctagtc c.*840
. . . . . . g.78428
atagaaatcagtctctctggtttgttttgtattatgttgtacatcattaaagatctaaat c.*900
. . . . . . g.78488
acaaaggatatacagtcttgaatctaaaataatttgctaactaactattttgattcttca c.*960
. . . g.78519
gagagaactactaataaaaatctaaaaggta c.*991
(downstream sequence)
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