(used for variant description)
(last modified June 11, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_032236.5 in the USP48 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_047203.1, covering USP48 transcript NM_032236.5.
(upstream sequence)
. . . . . g.5058
aacgtccgcgggcgcggggtgtgtcgggtgtcgacggcggcgctttgcggccggtcgt c.-181
. . . . . . g.5118
gcgggtcgggcgcgggcgggcgcggcggcagtggcgcgcacaggtgattgactggccagc c.-121
. . . . . . g.5178
tgcctgaaggagcgccaggtcctccttgctggcaggtggcgaagcccattggggcggcgg c.-61
. . . . . . g.5238
tgcagaccgcggcggcggctgcggcggtctggctcgggaggcgttcctggggccaaggcc c.-1
. . . . . . g.5298
ATGGCCCCGCGGCTGCAGCTGGAGAAGGCGGCCTGGCGCTGGGCGGAGACGGTGCGGCCC c.60
M A P R L Q L E K A A W R W A E T V R P p.20
. . . . . . g.5358
GAGGAGGTGTCGCAGGAGCACATCGAGACCGCTTACCGCATCTGGCTGGAGCCCTGCATT c.120
E E V S Q E H I E T A Y R I W L E P C I p.40
. | 02 . . . . . g.30458
CGCGGCGTGTGCAG | ACGAAACTGCAAAGGAAATCCGAATTGCTTGGTTGGTATTGGTGAG c.180
R G V C R | R N C K G N P N C L V G I G E p.60
. . . . . . g.30518
CATATTTGGTTAGGAGAAATAGATGAAAATAGTTTTCATAACATCGATGATCCCAACTGT c.240
H I W L G E I D E N S F H N I D D P N C p.80
. | 03 . . . . . g.31538
GAGAGGAGAAAAAAG | AACTCATTTGTGGGCCTGACTAACCTTGGAGCCACTTGTTATGTC c.300
E R R K K | N S F V G L T N L G A T C Y V p.100
. . . . . . g.31598
AACACATTTCTTCAAGTGTGGTTTCTCAACTTGGAGCTTCGGCAGGCACTCTACTTATGT c.360
N T F L Q V W F L N L E L R Q A L Y L C p.120
. . . . . | 04 . g.35084
CCAAGCACTTGTAGTGACTACATGCTGGGAGACGGCATCCAAGAAGAAAAAG | ATTATGAG c.420
P S T C S D Y M L G D G I Q E E K D | Y E p.140
. . . . . . g.35144
CCTCAAACAATTTGTGAGCATCTCCAGTACTTGTTTGCCTTGTTGCAAAACAGTAATAGG c.480
P Q T I C E H L Q Y L F A L L Q N S N R p.160
. . . . . . g.35204
CGATACATTGATCCATCAGGATTTGTTAAAGCCTTGGGCCTGGACACTGGACAACAGCAG c.540
R Y I D P S G F V K A L G L D T G Q Q Q p.180
| 05 . . . . . . g.35604
| GATGCTCAAGAATTTTCAAAGCTCTTTATGTCTCTATTGGAAGATACTTTGTCTAAACAA c.600
| D A Q E F S K L F M S L L E D T L S K Q p.200
. . . . . . g.35664
AAGAATCCAGATGTGCGCAATATTGTTCAACAGCAGTTCTGTGGAGAATATGCCTATGTA c.660
K N P D V R N I V Q Q Q F C G E Y A Y V p.220
| 06 . . . . . . g.36635
ACTGT | TTGCAACCAGTGTGGCAGAGAGTCTAAGCTTTTGTCAAAATTTTATGAGCTGGAG c.720
T V | C N Q C G R E S K L L S K F Y E L E p.240
. . . . . | 07 . g.39930
TTAAATATCCAAGGCCACAAACAGTTAACAGATTGTATCTCGGAATTTTTGAAG | GAAGAA c.780
L N I Q G H K Q L T D C I S E F L K | E E p.260
. . . . . . g.39990
AAATTAGAAGGAGACAATCGCTATTTTTGCGAGAACTGTCAAAGCAAACAGAATGCAACA c.840
K L E G D N R Y F C E N C Q S K Q N A T p.280
. . . . . . g.40050
AGAAAGATTCGACTTCTTAGCCTTCCTTGCACTCTGAACTTGCAGCTAATGCGTTTTGTC c.900
R K I R L L S L P C T L N L Q L M R F V p.300
| 08 . . . . . g.41098
TTTGACAG | GCAAACTGGACATAAGAAAAAGCTGAATACCTACATTGGCTTCTCAGAAATT c.960
F D R | Q T G H K K K L N T Y I G F S E I p.320
. . . | 09 . . . g.51599
TTGGATATGGAGCCTTATGTGGAACATAAAG | GTGGGTCCTACGTGTATGAACTCAGCGCA c.1020
L D M E P Y V E H K G | G S Y V Y E L S A p.340
. . . . . . g.51659
GTCCTCATACACAGAGGAGTGAGTGCTTATTCTGGCCACTACATCGCCCACGTGAAAGAT c.1080
V L I H R G V S A Y S G H Y I A H V K D p.360
. . . . . . g.51719
CCACAGTCTGGTGAATGGTATAAGTTTAATGATGAAGACATAGAAAAGATGGAGGGGAAG c.1140
P Q S G E W Y K F N D E D I E K M E G K p.380
. . . | 10 . . . g.58392
AAATTACAACTAGGGATTGAGGAAGATCTAG | CAGAACCTTCTAAGTCTCAGACACGTAAA c.1200
K L Q L G I E E D L A | E P S K S Q T R K p.400
. . . . . . g.58452
CCCAAGTGTGGCAAAGGAACTCATTGCTCTCGAAATGCATATATGTTGGTTTATAGACTG c.1260
P K C G K G T H C S R N A Y M L V Y R L p.420
. . . . | 11 . . g.59496
CAAACTCAAGAAAAGCCCAACACTACTGTTCAAGTTCCAG | CCTTTCTTCAAGAGCTGGTA c.1320
Q T Q E K P N T T V Q V P A | F L Q E L V p.440
. . . . . . g.59556
GATCGGGATAATTCCAAATTTGAGGAGTGGTGTATTGAAATGGCTGAGATGCGTAAGCAA c.1380
D R D N S K F E E W C I E M A E M R K Q p.460
. . . . . . g.59616
AGTGTGGATAAAGGAAAAGCAAAACACGAAGAGGTTAAGGAGCTGTACCAAAGGTTACCT c.1440
S V D K G K A K H E E V K E L Y Q R L P p.480
. | 12 . . . . . g.64150
GCTGGAGCTG | AGCCCTATGAGTTTGTCTCTCTGGAATGGCTGCAAAAGTGGTTGGATGAA c.1500
A G A E | P Y E F V S L E W L Q K W L D E p.500
. . . . . . g.64210
TCAACACCTACCAAACCTATTGATAATCACGCTTGCCTGTGTTCCCATGACAAGCTTCAC c.1560
S T P T K P I D N H A C L C S H D K L H p.520
. . . . . . g.64270
CCGGATAAAATATCAATTATGAAGAGGATATCTGAATATGCAGCTGACATTTTCTATAGT c.1620
P D K I S I M K R I S E Y A A D I F Y S p.540
. . | 13 . . . g.66463
AGATATGGAGGAGGTCCAAGACTAACTG | TGAAAGCCCTGTGTAAGGAATGTGTAGTAGAA c.1680
R Y G G G P R L T V | K A L C K E C V V E p.560
. . . . . . g.66523
CGTTGTCGCATATTGCGTCTGAAGAACCAACTAAATGAAGATTATAAAACTGTTAATAAT c.1740
R C R I L R L K N Q L N E D Y K T V N N p.580
. . | 14 . . . . g.67066
CTGCTGAAAGCAGCAGTAAAGGG | CAGCGATGGATTTTGGGTGGGGAAGTCCTCCTTGCGG c.1800
L L K A A V K G | S D G F W V G K S S L R p.600
. . . . . . g.67126
AGTTGGCGCCAGCTAGCTCTTGAACAGCTGGATGAGCAAGATGGTGATGCAGAACAAAGC c.1860
S W R Q L A L E Q L D E Q D G D A E Q S p.620
. . . | 15 . . . g.72764
AACGGAAAGATGAACGGTAGCACCTTAAATAAAG | ATGAATCAAAGGAAGAAAGAAAAGAA c.1920
N G K M N G S T L N K D | E S K E E R K E p.640
. . . . | 16 . . g.81344
GAGGAGGAATTAAATTTTAATGAAGATATTCTGTGTCCACATG | GTGAGTTATGCATATCT c.1980
E E E L N F N E D I L C P H G | E L C I S p.660
. . . . . . g.81404
GAAAATGAAAGAAGGCTTGTTTCTAAAGAGGCTTGGAGCAAACTGCAGCAGTACTTTCCA c.2040
E N E R R L V S K E A W S K L Q Q Y F P p.680
. . . . | 17 . g.81618
AAGGCTCCTGAGTTTCCAAGTTACAAAGAGTGCTGTTCACAGTGCAAG | ATTTTAGAAAGA c.2100
K A P E F P S Y K E C C S Q C K | I L E R p.700
. . . . . . g.81678
GAAGGGGAAGAAAATGAAGCCTTACATAAGATGATTGCAAACGAGCAAAAGACTTCTCTC c.2160
E G E E N E A L H K M I A N E Q K T S L p.720
. . . . . | 18 . g.82017
CCAAATTTGTTCCAGGATAAAAACAGACCGTGTCTCAGTAACTGGCCAGAG | GATACGGAT c.2220
P N L F Q D K N R P C L S N W P E | D T D p.740
. . . . . | 19 . g.82365
GTCCTCTACATCGTGTCTCAGTTCTTTGTAGAAGAGTGGCGGAAATTTGTTAG | AAAGCCT c.2280
V L Y I V S Q F F V E E W R K F V R | K P p.760
. . . . . . g.82425
ACAAGATGCAGCCCTGTGTCATCAGTTGGGAACAGTGCTCTTTTGTGTCCCCACGGGGGC c.2340
T R C S P V S S V G N S A L L C P H G G p.780
. . . . | 20 . . g.83819
CTCATGTTTACATTTGCTTCCATGACCAAAGAAGATTCTAAACT | TATAGCTCTCATATGG c.2400
L M F T F A S M T K E D S K L | I A L I W p.800
. . . . . . g.83879
CCCAGTGAGTGGCAAATGATACAAAAGCTCTTTGTTGTGGATCATGTAATTAAAATCACG c.2460
P S E W Q M I Q K L F V V D H V I K I T p.820
. . . . . | 21 . g.84582
AGAATTGAAGTGGGAGATGTAAACCCTTCAGAAACACAGTATATTTCTGAGCCCA | AACTC c.2520
R I E V G D V N P S E T Q Y I S E P K | L p.840
. . . . . . g.84642
TGTCCAGAATGCAGAGAAGGCTTATTGTGTCAGCAGCAGAGGGACCTGCGTGAATACACT c.2580
C P E C R E G L L C Q Q Q R D L R E Y T p.860
. . . . | 22 . . g.86611
CAAGCCACCATCTATGTCCATAAAGTTGTGGATAATAAAAAG | GTGATGAAGGATTCGGCT c.2640
Q A T I Y V H K V V D N K K | V M K D S A p.880
. . . . . . g.86671
CCGGAACTGAATGTGAGTAGTTCTGAAACAGAGGAGGACAAGGAAGAAGCTAAACCAGAT c.2700
P E L N V S S S E T E E D K E E A K P D p.900
. . | 23. . . . g.93007
GGAGAAAAAGATCCAGATTTTAATCAA | AGCAATGGTGGAACAAAGCGGCAAAAGATATCC c.2760
G E K D P D F N Q | S N G G T K R Q K I S p.920
. . . . . . g.93067
CATCAAAATTATATAGCCTATCAAAAGCAAGTTATTCGCCGAAGTATGCGACATAGAAAA c.2820
H Q N Y I A Y Q K Q V I R R S M R H R K p.940
. . . . . . g.93127
GTTCGTGGTGAGAAAGCACTTCTCGTTTCTGCTAATCAGACGTTAAAAGAATTGAAAATT c.2880
V R G E K A L L V S A N Q T L K E L K I p.960
| 24 . . . . . . g.98153
CAG | ATCATGCATGCATTTTCAGTTGCTCCTTTTGACCAGAATTTGTCAATTGATGGAAAG c.2940
Q | I M H A F S V A P F D Q N L S I D G K p.980
. . . . . . g.98213
ATTTTAAGTGATGACTGTGCCACCCTAGGCACCCTTGGCGTCATTCCTGAATCTGTCATT c.3000
I L S D D C A T L G T L G V I P E S V I p.1000
| 25 . . . . | 26 g.107363
TTATTGAAG | GCTGATGAACCAATTGCAGATTATGCTGCAATGGATGATGTCATGCAAG | TT c.3060
L L K | A D E P I A D Y A A M D D V M Q V | p.1020
. . | 27 . . g.108791
TGTATGCCAGAAGAAGGGTTTAAAG | GTACTGGTCTTCTTGGACATTAA c.3108
C M P E E G F K G | T G L L G H X p.1035
. . . . . . g.108851
tctttgaatacttgctgactgctaagaaatgaccagaggggaagaggagtttgacatgtt c.*60
. . . . . . g.108911
agggcattaaagcaaaggtggatttaagaattaaaccattacatgccccttccaaaaggc c.*120
. . . . . . g.108971
agaaatccattcaaacgtgactgtcccaaatgccttatgtcaaataaagcagattgcact c.*180
. . . . . . g.109031
gatggacatcagacttgaaggaaatgtttccaattttatatttaaggggggtggtgggtg c.*240
. . . . . . g.109091
ggagggggcaagtaaagacggaacaagtttagtagcagtaatagtaaatcatgtttacat c.*300
. . . . . . g.109151
atgagatttatagtcgtgggaggggaataaagttctgttatatttccttgctcgagtttc c.*360
. . . . . . g.109211
ataccagatgcgttggtccataaaggattgtatcaagtagatgggacaacattctgctct c.*420
. . . . . . g.109271
gaacgaaaagtaattttagagacataacctgcttaccaatgcctgtctttgattcatatt c.*480
. . . . . . g.109331
ctactttcaataaagcatgaaagtgaagaacttgtcctaagtgtggaaaagtgtcttcag c.*540
. . . . . . g.109391
atttagactcttctccatgtcagctgcagcgccacccgccttacacctgcccggccgtct c.*600
. . . . . . g.109451
gtctcttggtattgggtaaaggagggggcacctgcatgtctcctgcaatgagcaaggaat c.*660
. . . . . . g.109511
tatgtctcatgttttgacttcagaggctttttgctttggtgcatttcagaaaggatggag c.*720
. . . . . . g.109571
aacatttattatgtgtgaaagcatcctcttccggttttgctgttattcaaaagtgggaaa c.*780
. . . . . . g.109631
tgtacctggcacgtttgaaaataaaaaatctgactacctatcagaagagtaaatcagact c.*840
. . . . . . g.109691
gaagtacatttggataacacaaggtttctataaaatttgttcttcctgtcctccatgtca c.*900
. . . . . . g.109751
ctgtttcttggacctcagttctctttttgaaagcattattccaaaatgccctgagagggt c.*960
. . . . . . g.109811
ctcttagatcattgtttaaaaaaggaaaaaagtatatggatgtgctgtccatccaactca c.*1020
. . . . . . g.109871
ggattatcattcttagcaacacgtaaccgaagcaatattcttaagaatattgaaggggtt c.*1080
. . . g.109910
tttttaattgaacttaagactggagtttttcctttgaaa c.*1119
(downstream sequence)
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