(used for variant description)
(last modified May 16, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_014847.3 in the UBAP2L gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering UBAP2L transcript NM_014847.3.
(upstream sequence)
. . . . g.5717
aagtgggcgggggaaggcgcgagagcgagcgcgagagggaaaaggag c.-121
. . . . . . g.5777
ggagggggtggggaagagggaatcttatatcacgtgacaggggcggcgcggcccggggtg c.-61
. . | 02 . . . g.9945
tcagtgtggaggagactgag | tattctaccttgtaaatactgttatttgtatatactgtaa c.-1
. . . . . . g.10005
ATGATGACATCGGTGGGCACTAACCGAGCCCGGGGAAACTGGGAACAACCTCAAAACCAA c.60
M M T S V G T N R A R G N W E Q P Q N Q p.20
. . . | 03 . . . g.12133
AACCAGACACAGCACAAGCAGCGGCCACAG | GCCACTGCAGAACAAATTAGACTTGCACAG c.120
N Q T Q H K Q R P Q | A T A E Q I R L A Q p.40
. . . . | 04 . g.13448
ATGATTTCGGACCATAATGATGCTGACTTTGAGGAGAAGGTGAAACAA | TTGATTGATATT c.180
M I S D H N D A D F E E K V K Q | L I D I p.60
. . . . . . g.13508
ACAGGCAAGAACCAGGATGAATGTGTGATTGCTTTGCATGACTGCAATGGAGATGTCAAC c.240
T G K N Q D E C V I A L H D C N G D V N p.80
. . . | 05 . . g.19433
AGAGCTATCAATGTTCTTCTGGAAGGAAACCCAGACACG | CATTCCTGGGAGATGGTCGGG c.300
R A I N V L L E G N P D T | H S W E M V G p.100
. . . . . . g.19493
AAGAAGAAGGGAGTCTCAGGCCAGAAGGATGGTGGCCAGACGGAATCCAATGAGGAAGGC c.360
K K K G V S G Q K D G G Q T E S N E E G p.120
. . . . . . g.19553
AAAGAAAATCGAGACCGGGACAGAGACTATAGTCGGCGACGTGGTGGGCCACCAAGACGG c.420
K E N R D R D R D Y S R R R G G P P R R p.140
. . | 06 . . . g.20049
GGGAGAGGTGCCAGCCGTGGACGAGAGT | TTCGAGGTCAGGAAAATGGATTGGATGGCACC c.480
G R G A S R G R E F | R G Q E N G L D G T p.160
. . . . . . g.20109
AAGAGTGGAGGGCCTTCTGGAAGAGGAACAGAAAGAGGCAGAAGGGGCCGTGGCCGAGGC c.540
K S G G P S G R G T E R G R R G R G R G p.180
| 07 . . . . . | 08 . g.21855
AGAG | GTGGCTCTGGTAGGCGAGGAGGAAGGTTTTCTGCTCAAGGAATGGG | AACCTTTAAC c.600
R G | G S G R R G G R F S A Q G M G | T F N p.200
. . . . . . g.21915
CCAGCTGATTATGCAGAGCCAGCCAATACTGATGATAACTATGGCAATAGCAGCGGCAAT c.660
P A D Y A E P A N T D D N Y G N S S G N p.220
. . . . | 09 . . g.26351
ACGTGGAACAACACTGGCCACTTTGAACCAGATGATGGGACGA | GTGCATGGAGGACTGCA c.720
T W N N T G H F E P D D G T S | A W R T A p.240
. . . | 10 . . . g.28062
ACAGAGGAGTGGGGGACTGAAGATTGGAATGAAGAT | CTTTCTGAGACCAAGATCTTCACT c.780
T E E W G T E D W N E D | L S E T K I F T p.260
. . . . . . g.28122
GCCTCTAATGTGTCTTCAGTGCCTCTGCCTGCGGAGAATGTGACAATCACTGCTGGTCAG c.840
A S N V S S V P L P A E N V T I T A G Q p.280
| 11 . . . . . . g.31083
AG | AATTGACCTTGCTGTTCTGCTGGGGAAGACACCATCTACAATGGAGAATGATTCATCT c.900
R | I D L A V L L G K T P S T M E N D S S p.300
. . . . . . g.31143
AATCTGGATCCGTCTCAGGCTCCTTCTCTGGCCCAGCCTCTGGTGTTCAGTAATTCGAAG c.960
N L D P S Q A P S L A Q P L V F S N S K p.320
. . . . . | 12 . g.34066
CAGACTGCCATATCACAGCCTGCTTCAGGGAACACATTTTCTCATCACAGTATG | GTGAGC c.1020
Q T A I S Q P A S G N T F S H H S M | V S p.340
. . . . . . g.34126
ATGTTAGGGAAAGGATTTGGTGATGTCGGTGAAGCTAAAGGCGGCAGTACTACAGGCTCC c.1080
M L G K G F G D V G E A K G G S T T G S p.360
. . . . . . g.34186
CAGTTCTTGGAGCAATTCAAGACTGCCCAAGCCCTGGCTCAGTTGGCAGCTCAGCATTCT c.1140
Q F L E Q F K T A Q A L A Q L A A Q H S p.380
. . . . . . g.34246
CAGTCTGGAAGCACCACCACCTCCTCTTGGGACATGGGCTCGACGACACAATCCCCATCA c.1200
Q S G S T T T S S W D M G S T T Q S P S p.400
. | 13 . . . . . g.35909
CTGGTGCAGTATG | ATTTGAAGAACCCAAGTGATTCAGCAGTGCACAGCCCCTTTACAAAG c.1260
L V Q Y D | L K N P S D S A V H S P F T K p.420
. . . . . . g.35969
CGCCAGGCTTTTACCCCATCTTCAACCATGATGGAGGTGTTCCTTCAGGAGAAGTCACCT c.1320
R Q A F T P S S T M M E V F L Q E K S P p.440
. . . . . . g.36029
GCAGTGGCTACCTCCACAGCTGCACCTCCACCTCCGTCTTCTCCTCTGCCAAGCAAATCC c.1380
A V A T S T A A P P P P S S P L P S K S p.460
. . . . . . g.36089
ACATCGGCTCCACAGATGTCGCCTGGATCTTCAGACAACCAGTCCTCTAGCCCTCAGCCG c.1440
T S A P Q M S P G S S D N Q S S S P Q P p.480
. . . . . | 14 . g.36311
GCTCAGCAGAAACTGAAACAGCAGAAGAAAAAAGCCTCCTTGACTTCTAAG | ATTCCTGCT c.1500
A Q Q K L K Q Q K K K A S L T S K | I P A p.500
. . . . . . g.36371
CTGGCTGTGGAGATGCCTGGCTCAGCAGATATCTCAGGGCTAAACCTGCAGTTTGGGGCA c.1560
L A V E M P G S A D I S G L N L Q F G A p.520
. . . . . . g.36431
TTGCAGTTTGGGTCAGAGCCTGTCCTTTCTGATTATGAGTCCACCCCCACCACGAGCGCC c.1620
L Q F G S E P V L S D Y E S T P T T S A p.540
. . . . | 15 . . g.38737
TCTTCAAGCCAGGCTCCAAGTAGCCTGTATACCAGCACGGCCAG | TGAATCATCCTCTACA c.1680
S S S Q A P S S L Y T S T A S | E S S S T p.560
. . . . . . g.38797
ATTTCATCTAACCAGAGTCAGGAGTCTGGTTATCAGAGCGGCCCAATTCAGTCGACAACC c.1740
I S S N Q S Q E S G Y Q S G P I Q S T T p.580
. . . . . . g.38857
TATACCTCCCAAAATAATGCTCAGGGCCCTCTTTATGAACAGAGATCCACACAGACTCGG c.1800
Y T S Q N N A Q G P L Y E Q R S T Q T R p.600
. . . . . | 16 . g.39663
CGGTACCCCAGCTCCATCTCTTCATCACCCCAAAAGGACCTGACTCAGGCAAAG | AATGGC c.1860
R Y P S S I S S S P Q K D L T Q A K | N G p.620
. . . . | 17 . g.39984
TTCAGTTCTGTGCAGGCCACGCAGTTACAGACCACACAATCTGTTGAAG | GTGCTACAGGC c.1920
F S S V Q A T Q L Q T T Q S V E G | A T G p.640
. . . . . . g.40044
TCTGCAGTGAAATCTGATTCACCTTCCACTTCTAGCATCCCCCCTCTCAATGAAACGGTA c.1980
S A V K S D S P S T S S I P P L N E T V p.660
. . . . . . g.40104
TCTGCAGCTTCCTTACTGACGACAACCAATCAGCATTCATCCTCCTTGGGTGGCTTGAGC c.2040
S A A S L L T T T N Q H S S S L G G L S p.680
. . . . | 18 . . g.40520
CACAGTGAGGAGATTCCAAATACTACCACCACACAACACAGCAG | CACGTTATCTACGCAG c.2100
H S E E I P N T T T T Q H S S | T L S T Q p.700
. . . . . | 19. g.41887
CAGAATACCCTTTCATCATCAACATCTTCTGGGCGCACTTCGACATCCACTCTTTTG | CAC c.2160
Q N T L S S S T S S G R T S T S T L L | H p.720
. . . . . . g.41947
ACAAGTGTGGAGAGTGAGGCGAATCTCCATTCTTCCTCCAGCACTTTTTCCACCACATCC c.2220
T S V E S E A N L H S S S S T F S T T S p.740
. . . . . . g.42007
AGCACAGTCTCTGCACCTCCCCCAGTGGTCAGTGTCTCCTCCAGTCTCAATAGTGGCAGT c.2280
S T V S A P P P V V S V S S S L N S G S p.760
. . . . . . g.42067
AGCCTGGGCCTCAGCCTAGGCAGCAACTCCACTGTCACAGCCTCGACTCGAAGCTCAGTT c.2340
S L G L S L G S N S T V T A S T R S S V p.780
. | 20 . . . . . g.42214
GCTACGACTTCAG | GAAAAGCTCCTCCCAACCTCCCTCCTGGGGTCCCGCCGTTGTTGCCT c.2400
A T T S G | K A P P N L P P G V P P L L P p.800
. . . . | 21 . . g.43816
AATCCGTATATTATGGCTCCAGGGCTGTTACATGCCTACCCG | CCACAAGTATATGGTTAT c.2460
N P Y I M A P G L L H A Y P | P Q V Y G Y p.820
. . . | 22 . . . g.44793
GATGACTTGCAGATGCTTCAGACAAGATTTCCATTG | GATTACTACAGCATCCCATTTCCC c.2520
D D L Q M L Q T R F P L | D Y Y S I P F P p.840
. . . . . | 23 g.45715
ACACCCACTACTCCGCTGACTGGGAGGGATGGTAGCCTGGCCAGCAACCCTTATTCTG | GT c.2580
T P T T P L T G R D G S L A S N P Y S G | p.860
. . . . . . g.45775
GACCTCACAAAGTTCGGCCGTGGGGATGCCTCCTCCCCAGCCCCGGCCACAACCTTGGCC c.2640
D L T K F G R G D A S S P A P A T T L A p.880
. . . . . . g.45835
CAACCCCAACAGAACCAGACGCAGACTCACCATACCACGCAGCAGACATTCCTGAACCCG c.2700
Q P Q Q N Q T Q T H H T T Q Q T F L N P p.900
. . . . . . g.45895
GCGCTGCCTCCTGGCTACAGTTACACCAGCCTGCCATACTATACAGGGGTCCCGGGCCTC c.2760
A L P P G Y S Y T S L P Y Y T G V P G L p.920
. . . | 24 . . . g.46437
CCCAGCACCTTCCAGTATGGGCCTGCTGTGTTCCCT | GTGGCTCCTACCTCTTCCAAGCAG c.2820
P S T F Q Y G P A V F P | V A P T S S K Q p.940
. . . . . . g.46497
CATGGTGTGAATGTCAGTGTGAATGCATCGGCCACCCCTTTCCAACAGCCGAGTGGATAT c.2880
H G V N V S V N A S A T P F Q Q P S G Y p.960
. . | 25 . . . . g.51360
GGGTCTCATGGATACAACACTG | GTGTTTCAGTCACCTCCAGTAACACGGGCGTGCCAGAT c.2940
G S H G Y N T G | V S V T S S N T G V P D p.980
. . . | 26 . . . g.53608
ATCTCGGGTTCTGTGTACTCCAAAACCCAG | CAGTCCTTTGAGAAACAAGGTTTTCATTCC c.3000
I S G S V Y S K T Q | Q S F E K Q G F H S p.1000
. . . . . . g.53668
GGTACTCCTGCTGCTTCCTTCAACTTGCCTTCAGCCCTAGGAAGTGGGGGCCCCATCAAT c.3060
G T P A A S F N L P S A L G S G G P I N p.1020
. . . . . . g.53728
CCGGCCACAGCTGCTGCCTACCCACCTGCCCCCTTTATGCACATTCTGACCCCCCATCAG c.3120
P A T A A A Y P P A P F M H I L T P H Q p.1040
. . . . | 27 . g.55033
CAGCCGCATTCTCAGATCCTTCACCATCACCTGCAGCAGGATGGCCAG | ACGGGCAGCGGG c.3180
Q P H S Q I L H H H L Q Q D G Q | T G S G p.1060
. . . . . . g.55093
CAACGTAGCCAGACCAGCTCCATCCCGCAGAAGCCCCAGACCAACAAGTCTGCCTACAAC c.3240
Q R S Q T S S I P Q K P Q T N K S A Y N p.1080
. . g.55117
AGCTACAGCTGGGGGGCCAACTGA c.3264
S Y S W G A N X p.1087
. . . . . . g.55177
ggccctgaccctcttctcccggtcccatcttctgagagggcttctcagcctggaaactat c.*60
. . . . . . g.55237
ggaaacagcatcaaagagaaaggaatgtggggggtttccgctgccccccacccccagcgg c.*120
. . . . . . g.55297
cccaccccatgcctcagcttcatgtctgtcccattcctataccatccccaccctgttgta c.*180
. . . . . . g.55357
tgtattataggatttgtattttctccttttttttcccccttccattccttctcccctctt c.*240
. . . . . . g.55417
gcattcaagattatgaaactttgctatgggccctgcacttcctttgcttcctcctgttca c.*300
. . . . . . g.55477
ccctggtggtgtacggatgaggcggggaggtgggacccccaaacatatatcagcccaaca c.*360
. . . . . . g.55537
gccctaagtctccttctttattattaggaaaacaacaacaacaacaaacaaaaaaatggc c.*420
. . . . . . g.55597
gtcatgaatatgaacagcattgtcagatgaattagttgaagtggttttttttttgttttt c.*480
. . . . . . g.55657
tttttttttttgtactgtgtcctcaaatttaatggattaatgtgtcttgtatatataaaa c.*540
. g.55675
agaaaacctctaccttca c.*558
(downstream sequence)
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