(used for variant description)
(last modified June 12, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_019050.2 in the USP53 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering USP53 transcript NM_019050.2.
(upstream sequence)
. . . . g.5046
gactggtccctgggtattggggcgtatgcgcatgctccgctcacag c.-1021
. . . . . . g.5106
ggtcgggctctgggcggcggagaccagccgcctgtgctccagttcccggtgagcctcggt c.-961
. . . . . . g.5166
actgtggcagcagtcagtgtgtctggcgggtgtcggcgtgaagcggggctgggccagcgg c.-901
. . . . . . g.5226
gaggtagctctgtgggagtggaaggcctgtatttctctacctggaccgcacgctcctcgc c.-841
. . . | 02 . . . g.6482
gcaaggagggtagagctcaag | ttccgtgatgatggtctaagcaaagacccttcgtcctgt c.-781
. . . . . . g.6542
taaagataaattaaaaaaaaaaaaaaaaaaccaaagggaacaaaacttactctgcaaaag c.-721
. . . . . . | 03 g.9929
taatatatgatttacctgctgttgtcataagaattccaaatagacaaactcggt | atgctt c.-661
. . . . . . g.9989
gggatttgctttacattctaagtggatttggagaagagacaataaagaataagcagtcaa c.-601
. . . . . . | 04 g.31593
ttctataatatatttagaaggagaaaagtgccaaggaggaatgaaaaagtagaacaag | at c.-541
. . . . . . g.31653
ttgctttgaggtcacattgatatgaaatatggagtcaccttttataacttcacctgggaa c.-481
. . . . . . g.31713
agagagagaaaactttcttgttaaaaaaacataaggaaaacaaacaaccaaaggaatcat c.-421
. . . . . . g.31773
gccaaatgccaactctacatctttttgtattattaacatattttatgcatcaagacaaat c.-361
. . . . . . g.31833
ggcttatgcattaaaggggatgattcgttcatcagtatttttagccattaaaaaaaatcg c.-301
. . . . . . g.31893
ttttcatattaaccttatacagctcccataaaatttaacacatataaacatctttaacgc c.-241
. . . . . . g.31953
cttgtttaaaatagctttcttttttagtgcttagaacttcaatgtttatgcaccctattg c.-181
. . . . . . g.32013
ttacttgtcagagtctttaagagtttataacatcaggaaagatatggacttggaaactta c.-121
. . . . . . g.32073
cattattaaaatagactgcagtggatttaattggacaattcaagacatccattttattgt c.-61
. . . . . . g.32133
ccaaaatattacataaaagtgtacagtttttagcctaaatgcaaacaaagttgcttgaaa c.-1
. . . . . . g.32193
ATGGCATGGGTAAAATTCTTACGGAAACCTGGTGGCAATCTTGGAAAAGTTTATCAGCCT c.60
M A W V K F L R K P G G N L G K V Y Q P p.20
. . . . . . g.32253
GGAAGTATGCTATCACTAGCCCCTACCAAAGGCTTGTTAAATGAACCAGGACAAAACAGC c.120
G S M L S L A P T K G L L N E P G Q N S p.40
. . | 05 . . . . g.37746
TGCTTTCTTAATAGCGCTGTACAG | GTTTTATGGCAATTGGATATATTCCGACGAAGCTTG c.180
C F L N S A V Q | V L W Q L D I F R R S L p.60
. . . . . | 06. g.41124
CGGGTTTTGACTGGACATGTTTGTCAGGGAGATGCCTGTATATTTTGTGCATTGAAG | ACG c.240
R V L T G H V C Q G D A C I F C A L K | T p.80
. . . . . . g.41184
ATATTTGCACAGTTCCAACACAGTCGAGAAAAAGCACTTCCCTCAGATAACATAAGGCAT c.300
I F A Q F Q H S R E K A L P S D N I R H p.100
. . . . . . g.41244
GCTCTTGCAGAAAGTTTCAAAGATGAGCAGCGATTTCAACTTGGCCTTATGGATGATGCT c.360
A L A E S F K D E Q R F Q L G L M D D A p.120
. | 07 . . . . . g.48667
GCGGAGTGCTTT | GAAAATATGTTGGAGAGGATTCATTTTCACATAGTGCCAAGCAGAGAT c.420
A E C F | E N M L E R I H F H I V P S R D p.140
. . . . . . g.48727
GCAGACATGTGTACCTCTAAATCTTGTATCACTCACCAGAAGTTTGCTATGACTCTGTAT c.480
A D M C T S K S C I T H Q K F A M T L Y p.160
| 08 . . . . . . g.48868
GAACAG | TGTGTGTGTCGTAGCTGTGGAGCATCGTCAGATCCTCTACCTTTTACAGAATTT c.540
E Q | C V C R S C G A S S D P L P F T E F p.180
. . | 09 . . . g.52224
GTGCGGTACATTTCTACAACAGCCTTATG | CAATGAGGTTGAAAGAATGTTGGAAAGGCAT c.600
V R Y I S T T A L C | N E V E R M L E R H p.200
. . . . . . g.52284
GAACGCTTTAAACCTGAAATGTTTGCAGAATTGCTACAAGCAGCAAATACAACAGATGAC c.660
E R F K P E M F A E L L Q A A N T T D D p.220
. | 10 . . . . . g.52925
TATAGGAAATGTCCT | AGTAACTGTGGCCAAAAAATAAAAATTCGCCGTGTTTTAATGAAT c.720
Y R K C P | S N C G Q K I K I R R V L M N p.240
. . . . . . g.52985
TGCCCAGAGATTGTTACAATTGGTTTAGTCTGGGACTCCGAGCATTCTGACTTGACCGAA c.780
C P E I V T I G L V W D S E H S D L T E p.260
. . . . | 11 . . g.54106
GCTGTTGTTCGGAATCTAGCAACACATCTTTATCTTCCTGGG | CTTTTTTATAGAGTTACT c.840
A V V R N L A T H L Y L P G | L F Y R V T p.280
. . . . . . g.54166
GATGAAAATGCCAAAAATAGTGAACTTAACCTTGTTGGTATGATCTGCTACACCAGCCAA c.900
D E N A K N S E L N L V G M I C Y T S Q p.300
. . . . . . g.54226
CATTATTGTGCCTTTGCATTTCACACCAAAAGTTCCAAATGGGTATTTTTTGATGATGCA c.960
H Y C A F A F H T K S S K W V F F D D A p.320
. | 12 . . . . . g.59741
AATGTGAAAGAG | ATTGGAACTAGATGGAAAGATGTTGTCTCCAAATGCATTCGATGCCAC c.1020
N V K E | I G T R W K D V V S K C I R C H p.340
. . . . . . g.59801
TTTCAGCCACTACTTTTGTTTTATGCAAACCCAGATGGCACAGCAGTTTCTACTGAGGAT c.1080
F Q P L L L F Y A N P D G T A V S T E D p.360
. . . . . | 13 . g.60646
GCACTCAGGCAGGTCATCAGCTGGTCACATTACAAATCTGTTGCAGAAAATATGG | GATGT c.1140
A L R Q V I S W S H Y K S V A E N M G | C p.380
. . . . . . g.60706
GAAAAGCCTGTAATTCATAAGTCAGATAATTTAAAAGAAAATGGATTTGGTGATCAGGCA c.1200
E K P V I H K S D N L K E N G F G D Q A p.400
. . . . . . g.60766
AAGCAGAGAGAAAATCAGAAATTTCCAACTGATAATATTTCATCATCTAATCGGAGCCAC c.1260
K Q R E N Q K F P T D N I S S S N R S H p.420
. . | 14 . . . g.62096
AGTCACACAGGTGTAGGGAAAGGACCAG | CTAAGTTAAGTCACATTGATCAAAGGGAAAAG c.1320
S H T G V G K G P A | K L S H I D Q R E K p.440
. . . . . . g.62156
ATAAAAGACATTTCCAGAGAATGTGCTCTGAAAGCTATTGAACAGAAAAACTTACTTTCT c.1380
I K D I S R E C A L K A I E Q K N L L S p.460
. . . . . | 15 . g.63674
TCACAAAGGAAAGATTTAGAGAAGGGACAAAGAAAAGATTTAGGACGACATAGAG | ATTTG c.1440
S Q R K D L E K G Q R K D L G R H R D | L p.480
. . . . . . g.63734
GTTGATGAAGACCTTTCACATTTCCAATCTGGATCACCTCCTGCCCCAAATGGTTTTAAA c.1500
V D E D L S H F Q S G S P P A P N G F K p.500
. . . . . . g.63794
CAACATGGGAATCCACATCTATATCATAGTCAAGGAAAAGGATCATATAAACATGACCGA c.1560
Q H G N P H L Y H S Q G K G S Y K H D R p.520
. . . . . . g.63854
GTTGTACCTCAGAGTCGAGCTTCTGCACAAATAATAAGTTCAAGTAAATCCCAGATTCTT c.1620
V V P Q S R A S A Q I I S S S K S Q I L p.540
. . . . . . g.63914
GCTCCAGGAGAGAAAATAACTGGCAAAGTTAAGAGTGACAATGGCACTGGATATGACACA c.1680
A P G E K I T G K V K S D N G T G Y D T p.560
. . . . . . g.63974
GACAGCAGCCAAGATTCTAGGGATAGAGGAAACAGCTGTGATAGCAGCAGTAAAAGCCGG c.1740
D S S Q D S R D R G N S C D S S S K S R p.580
. . . . . . g.64034
AACCGAGGTTGGAAACCTATGAGAGAAACATTAAATGTTGATAGTATTTTTAGTGAAAGT c.1800
N R G W K P M R E T L N V D S I F S E S p.600
. . . . . . g.64094
GAAAAAAGACAGCATAGTCCAAGACATAAACCAAATATCAGTAATAAGCCTAAATCTAGC c.1860
E K R Q H S P R H K P N I S N K P K S S p.620
. . . . . . g.64154
AAGGATCCGAGTTTTAGTAATTGGCCAAAAGAGAATCCAAAGCAAAAAGGTTTAATGACC c.1920
K D P S F S N W P K E N P K Q K G L M T p.640
. . . . . . g.64214
ATATATGAAGATGAAATGAAGCAGGAAATAGGAAGCAGAAGTTCCCTTGAATCTAATGGA c.1980
I Y E D E M K Q E I G S R S S L E S N G p.660
. . . . . . g.64274
AAAGGAGCAGAGAAAAATAAAGGCCTTGTAGAGGGTAAAGTGCATGGTGATAATTGGCAG c.2040
K G A E K N K G L V E G K V H G D N W Q p.680
. . . . . . g.64334
ATGCAAAGGACTGAGTCTGGATATGAAAGCAGTGATCACATCAGTAATGGTTCTACTAAT c.2100
M Q R T E S G Y E S S D H I S N G S T N p.700
. . . . . . g.64394
TTGGACTCACCTGTTATCGATGGAAATGGTACAGTAATGGATATCAGTGGTGTTAAAGAA c.2160
L D S P V I D G N G T V M D I S G V K E p.720
. | 16 . . . . . g.66051
ACAGTATGCTTCAG | TGACCAGATTACGACAAGCAACCTAAATAAAGAACGTGGGGACTGT c.2220
T V C F S | D Q I T T S N L N K E R G D C p.740
. . . | 17 . . . g.83567
ACCTCCCTTCAGAGCCAACATCACTTAGAAG | GCTTTAGAAAAGAACTCAGGAATTTGGAA c.2280
T S L Q S Q H H L E G | F R K E L R N L E p.760
. . . . . . g.83627
GCAGGCTATAAATCTCATGAATTCCACCCAGAATCACATTTACAAATAAAAAATCATTTG c.2340
A G Y K S H E F H P E S H L Q I K N H L p.780
| 18 . . . . . g.84763
ATAAAAAG | ATCACATGTACATGAAGACAATGGAAAGTTATTTCCTTCATCCAGTCTACAA c.2400
I K R | S H V H E D N G K L F P S S S L Q p.800
. . . . . . g.84823
ATACCCAAGGACCATAATGCAAGAGAACATATCCACCAGTCAGATGAACAGAAACTTGAA c.2460
I P K D H N A R E H I H Q S D E Q K L E p.820
. . . . . . g.84883
AAACCGAATGAATGCAAATTTTCTGAGTGGCTTAATATAGAAAATTCTGAGAGAACAGGT c.2520
K P N E C K F S E W L N I E N S E R T G p.840
. . . . . . g.84943
TTGCCTTTTCACGTTGATAACTCTGCTTCTGGGAAGAGAGTGAACAGTAATGAACCATCT c.2580
L P F H V D N S A S G K R V N S N E P S p.860
. . . . . . g.85003
TCATTATGGTCTTCACACCTAAGAACTGTTGGGTTAAAGCCAGAAACTGCTCCTCTCATC c.2640
S L W S S H L R T V G L K P E T A P L I p.880
. . . . . . g.85063
CAGCAACAAAATATCATGGATCAATGTTACTTTGAGAACTCTCTATCCACAGAATGTATA c.2700
Q Q Q N I M D Q C Y F E N S L S T E C I p.900
. . . . . . g.85123
ATTCGGTCAGCCAGCAGATCTGATGGGTGTCAGATGCCAAAACTTTTTTGCCAGAATCTA c.2760
I R S A S R S D G C Q M P K L F C Q N L p.920
. . . . . . g.85183
CCACCCCCTTTGCCACCAAAGAAATATGCTATAACCAGTGTGCCACAGTCAGAGAAAAGC c.2820
P P P L P P K K Y A I T S V P Q S E K S p.940
. . . . . . g.85243
GAATCTACACCTGATGTCAAACTTACAGAGGTGTTTAAAGCTACCTCTCATCTTCCGAAG c.2880
E S T P D V K L T E V F K A T S H L P K p.960
. . . . . . g.85303
CACAGTTTAAGTACAGCTTCAGAACCAAGTTTAGAAGTGAGTACACATATGAATGATGAA c.2940
H S L S T A S E P S L E V S T H M N D E p.980
. . . . . . g.85363
AGACATAAAGAAACATTTCAAGTGAGAGAATGTTTTGGCAACACACCAAACTGTCCATCC c.3000
R H K E T F Q V R E C F G N T P N C P S p.1000
. . . . . . g.85423
AGCTCCTCAACTAACGATTTTCAGGCAAACTCAGGTGCCATTGATGCATTTTGCCAACCA c.3060
S S S T N D F Q A N S G A I D A F C Q P p.1020
. . . . . . g.85483
GAACTAGACTCTATTTCTACCTGTCCAAATGAGACAGTTTCATTAACTACCTATTTTTCA c.3120
E L D S I S T C P N E T V S L T T Y F S p.1040
. . . . . . g.85543
GTTGATAGCTGCATGACGGATACATATAGATTGAAATACCATCAGAGGCCCAAGCTCTCT c.3180
V D S C M T D T Y R L K Y H Q R P K L S p.1060
. . . . g.85585
TTTCCAGAGAGCAGTGGCTTTTGTAATAATTCACTATCTTAG c.3222
F P E S S G F C N N S L S X p.1073
. . . . . . g.85645
agtgaaaaaggactagacctgtgttacataataatcttggttcaagctgcccttctgaac c.*60
. . . . . . g.85705
aaagatataaacctagcatacattgtaatagataactggtaaaactgaccaacttttact c.*120
. . . . . . g.85765
tctcagaggccatttaaatataataggaacctactgaccaaacctagtgatacataaaat c.*180
. . . . . . g.85825
taaagcctgtggcatttttaaagttgttaatcactatacatatgtatgtgtatatgtgta c.*240
. . . . . . g.85885
tacacatatataattttatgatcaatatcttagatattttagaaattccctttgaatagt c.*300
. . . . . . g.85945
cttggcgtgccgtgaaaaatagaaaatcagggagatataataattcatttgtcatatgct c.*360
. . . . . . g.86005
acagttgaataaaaattaaatttgtccccctattttgtggccagtagactgggaagtatt c.*420
. . . . . . g.86065
aaactaaccagtactcatgtatggagattataaactatgctaattgaaaagtaccaggtg c.*480
. . . . . . g.86125
atacatagcctggtacttttttgtcaaagaattgctttatgaagaagcactttctaatgg c.*540
. . . . . . g.86185
gtaaccagaaaagggcttcacccatttgtttttgacttctatgatagtcactgcatatga c.*600
. . . . . . g.86245
tccctttaagtgtctttaaaaaaaatgacttatgaatttgatagcatttggggaaaaaaa c.*660
. . . . . . g.86305
gccttatatgattaacaatttgtaagttttcaagatcggatggaatttaattttgctcct c.*720
. . . . . . g.86365
agaatttttgtcttcagaatatctagttaagataaattaggcctttgactattataggta c.*780
. . . . . . g.86425
ttcataaatgctactttagccatgtaagttaaaaagttaaaatacttaaactttagtgta c.*840
. . . . . . g.86485
tttatttatctcgttactttttttctaattttatatgaaatgtgaaaggtctttattttg c.*900
. . . . . . g.86545
gtttggtttactttgggctgctaaccaccagtgttaggaattaatgtagggcaccctctt c.*960
. . . . . . g.86605
attgggaatgtcactgtaattgcctacattttctttgctgtaatattacctgcttatagg c.*1020
. . . . . . g.86665
ttgtcaacccattttatctgaatttgaaaatctatctaggtttccagattaaatttctac c.*1080
. . . . . . g.86725
ctttcatatagagagtttaattttaataaaatgtttaattagagcatccttcccttttat c.*1140
. . . . . . g.86785
tctactttgaacaaatagtaattttaccccaactacttttcatgaagagtgctttgaaaa c.*1200
. . . . . . g.86845
ttaaaggaatttttattattatggtaaccttatgagtaaaaataagttactttaattgct c.*1260
. . . . . . g.86905
ttatttcgttagttgtcattttattttgtactatgctggtaaactaattgtggtttagaa c.*1320
. . . . . . g.86965
tagttttatgttcactcctgataactgagaaacagaactaaagttttccttacattgcta c.*1380
. . . . . . g.87025
aatggataaacctcatattcaataaactagtaaatgtagccacttgactgattgcgtaaa c.*1440
. . . . . . g.87085
tcgtgttaaaacattctaaaatgttgtaactaatttaatgtgaatactgttaaacagaaa c.*1500
. . . . . . g.87145
ataattgcttataaaagtctaacttcacccagttaccaagtcttggccaaattttatctt c.*1560
. . . . . . g.87205
ctgcctatagtttttactagcctttttaaactataatagtgagtgatcattactttatat c.*1620
. . . . . . g.87265
tctcgtaagttagaaatacttgaatgccaaattaattttgttttaagaaagcttattttt c.*1680
. . . . . . g.87325
aacataattttttagtgtggagggtttgtaaataatgtaaagtttgtaaacctgtattta c.*1740
. . . . . . g.87385
aaataccaaagtttttcttcttttataacattgtaagatactagaaaaatgggcttcaag c.*1800
. . . . . . g.87445
ttttttaatagctttcacagtttgtgtagttttttttttctatttggttaagatgtgagt c.*1860
. . . . . . g.87505
tggaaatgtattatttgaaacatttaaactaatttttgtatttaacagcagtctcagaca c.*1920
. . . . . . g.87565
tttgtcttttcaactcagttgagttgtagatatcaaatagaaatgtccagttttgcctct c.*1980
. . . . . . g.87625
tttaagtactgtccagttgaaacctcctgactcatgtactactacacaaactagaaaatg c.*2040
. . . . . . g.87685
cccatttatttttgttgattcaacactccagatacagattgatacatatatactaatcat c.*2100
. . . . . . g.87745
tttatttcatgtaaaagttttacatctagggtgcctatttatttttatagatgctttcat c.*2160
. . . . . . g.87805
ccagttataagcttattataactttgtaaatatttcagccaacagttgtaatgtttaaaa c.*2220
. . . . . . g.87865
tacttaccttcagaatgttatattttcatgtgaaatcaatttcttctaattcaaaaaaat c.*2280
. . g.87892
tttaagataaactgatttttaagttta c.*2307
(downstream sequence)
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