(used for variant description)
(last modified June 29, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_020750.2 in the XPO5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_051658.1, covering XPO5 transcript NM_020750.2.
(upstream sequence)
. . . g.5031
acttccgcgggcgcgtgcgcagtggcgggcc c.-181
. . . . . . g.5091
gggcgcgtgcgcagcgccggcttcttcccagcgcgagttgctgctaacgctcctcctcca c.-121
. . . . . . g.5151
gcttcccacccccgccgcccgccgcggcccggtaccaacgggtggtctcgccgagggagc c.-61
. . . . . . g.5211
tgtcgtgcctcgtggtcccgggactgcagtggtgtgcgctctcggcgcgtggcgctaggc c.-1
. . . . . . g.5271
ATGGCGATGGATCAAGTAAACGCGCTGTGCGAGCAGCTGGTGAAAGCGGTGACGGTCATG c.60
M A M D Q V N A L C E Q L V K A V T V M p.20
. . . . | 02 . . g.7489
ATGGACCCCAACTCCACCCAGCGCTACCGGCTGGAAGCCCTCAAG | TTTTGTGAGGAGTTT c.120
M D P N S T Q R Y R L E A L K | F C E E F p.40
. . . . . . g.7549
AAAGAAAAGTGTCCTATCTGTGTCCCCTGTGGCTTGAGGTTGGCTGAGAAAACACAAGTT c.180
K E K C P I C V P C G L R L A E K T Q V p.60
. . . . | 03. . g.8510
GCCATCGTCAGACATTTTGGCCTTCAGATCCTGGAACACGTTGTCAA | GTTTCGGTGGAAC c.240
A I V R H F G L Q I L E H V V K | F R W N p.80
. . . . . . g.8570
GGCATGTCTCGATTGGAGAAGGTGTATCTGAAGAACAGTGTCATGGAGCTGATTGCAAAT c.300
G M S R L E K V Y L K N S V M E L I A N p.100
| 04 . . . . . . g.10141
| GGAACATTGAACATTTTGGAAGAGGAGAACCATATTAAAGATGCTCTGTCTCGAATTGTA c.360
| G T L N I L E E E N H I K D A L S R I V p.120
. . . . . . g.10201
GTGGAAATGATCAAGCGAGAGTGGCCACAGCATTGGCCTGACATGCTAATAGAATTGGAC c.420
V E M I K R E W P Q H W P D M L I E L D p.140
. | 05 . . . . g.10433
ACTCTTTCCAAACAAGGG | GAAACACAGACAGAATTGGTGATGTTTATCCTTTTGCGACTG c.480
T L S K Q G | E T Q T E L V M F I L L R L p.160
. . . . . . g.10493
GCAGAGGATGTAGTGACTTTTCAGACACTTCCCCCTCAAAGAAGAAGGGACATCCAGCAA c.540
A E D V V T F Q T L P P Q R R R D I Q Q p.180
. . . . . . g.10553
ACATTAACCCAGAACATGGAAAGGATCTTCAGTTTTCTGCTTAACACACTTCAAGAAAAT c.600
T L T Q N M E R I F S F L L N T L Q E N p.200
. . | 06 . . | 07 . g.13733
GTAAACAAGTATCAGCAAGTG | AAGACAGATACTTCTCAGGAGTCAAAG | GCGCAAGCAAAC c.660
V N K Y Q Q V | K T D T S Q E S K | A Q A N p.220
. . . . . . g.13793
TGTCGAGTAGGAGTTGCAGCACTGAATACTCTAGCAGGCTATATTGACTGGGTGTCTATG c.720
C R V G V A A L N T L A G Y I D W V S M p.240
. . . . . . g.13853
AGTCACATCACTGCTGAAAACTGTAAACTCCTGGAGATACTGTGTTTGCTGTTGAATGAA c.780
S H I T A E N C K L L E I L C L L L N E p.260
. . . . . | 08 . g.15345
CAGGAACTTCAGTTGGGAGCCGCTGAGTGTCTTCTCATTGCAGTCAGCAGAAAA | GGCAAG c.840
Q E L Q L G A A E C L L I A V S R K | G K p.280
. . . . . . g.15405
TTGGAAGACCGGAAGCCCTTGATGGTCTTATTTGGAGATGTTGCCATGCATTATATACTC c.900
L E D R K P L M V L F G D V A M H Y I L p.300
. | 09 . . . . . g.18778
TCCGCCGCACA | GACTGCTGATGGAGGAGGTTTGGTAGAAAAACACTACGTCTTTCTGAAG c.960
S A A Q | T A D G G G L V E K H Y V F L K p.320
. . . . . | 10 . g.20077
AGGCTCTGTCAGGTGTTGTGTGCGCTGGGCAATCAGCTGTGTGCATTGCTG | GGTGCAGAT c.1020
R L C Q V L C A L G N Q L C A L L | G A D p.340
. . . . . . g.20137
TCTGATGTAGAAACACCATCAAACTTTGGAAAATACCTGGAATCTTTTCTTGCTTTCACA c.1080
S D V E T P S N F G K Y L E S F L A F T p.360
. | 11 . . . . . g.20817
ACCCATCCAAGTCAG | TTTCTACGCTCTTCAACTCAGATGACTTGGGGAGCCCTCTTCAGG c.1140
T H P S Q | F L R S S T Q M T W G A L F R p.380
. . . . . . g.20877
CATGAAATCCTGTCCCGTGATCCTTTGCTATTAGCAATAATACCAAAATATCTTCGTGCT c.1200
H E I L S R D P L L L A I I P K Y L R A p.400
. . | 12 . . . . g.22523
TCCATGACTAACTTGGTCAAG | ATGGGCTTTCCTTCTAAAACAGACAGCCCTAGCTGTGAA c.1260
S M T N L V K | M G F P S K T D S P S C E p.420
. . . . . | 13 . g.25119
TATTCTCGGTTTGATTTTGATAGCGATGAGGACTTCAATGCTTTCTTCAACT | CCTCCCGA c.1320
Y S R F D F D S D E D F N A F F N S | S R p.440
. . . . . . g.25179
GCACAACAAGGAGAGGTGATGAGGTTGGCATGTCGTTTGGATCCCAAAACTAGCTTCCAG c.1380
A Q Q G E V M R L A C R L D P K T S F Q p.460
. . . . . . g.25239
ATGGCTGGGGAGTGGCTAAAGTATCAACTATCAACTTTTCTTGATGCTGGTTCTGTGAAT c.1440
M A G E W L K Y Q L S T F L D A G S V N p.480
| 14 . . . . . . g.27631
T | CTTGTTCTGCAGTTGGAACTGGAGAAGGAAGCCTCTGTTCCGTCTTCTCACCTTCATTC c.1500
S | C S A V G T G E G S L C S V F S P S F p.500
. . . . . . g.27691
GTGCAGTGGGAAGCCATGACTCTTTTTTTGGAAAGTGTTATCACCCAGATGTTTCGAACA c.1560
V Q W E A M T L F L E S V I T Q M F R T p.520
. | 15 . . . . . g.29670
CTAAATAGAGAA | GAAATTCCTGTTAATGATGGAATAGAGCTATTGCAGATGGTTCTGAAC c.1620
L N R E | E I P V N D G I E L L Q M V L N p.540
. . . . . . g.29730
TTTGATACCAAGGATCCCCTCATCCTGTCCTGCGTCCTTACTAATGTCTCTGCACTCTTT c.1680
F D T K D P L I L S C V L T N V S A L F p.560
. . . . | 16 . g.31153
CCATTTGTCACCTACAGACCAGAGTTCCTGCCCCAGGTCTTCTCTAAG | CTATTTTCATCT c.1740
P F V T Y R P E F L P Q V F S K | L F S S p.580
. . . | 17 . . . g.31527
GTCACTTTTGAAACTGTTGAAGAAAGTAAG | GCCCCCAGAACCCGGGCAGTGAGGAATGTG c.1800
V T F E T V E E S K | A P R T R A V R N V p.600
. . . . . . g.31587
AGGAGGCATGCTTGTTCCTCCATCATCAAGATGTGTCGTGACTACCCCCAGCTTGTGCTG c.1860
R R H A C S S I I K M C R D Y P Q L V L p.620
| 18 . . . . . . g.32675
| CCCAATTTTGACATGCTTTATAACCATGTGAAGCAACTCCTCTCCAATGAGCTACTCCTG c.1920
| P N F D M L Y N H V K Q L L S N E L L L p.640
. . . . . . g.32735
ACACAAATGGAGAAGTGTGCCCTCATGGAAGCCCTGGTTCTCATTAGCAACCAATTTAAG c.1980
T Q M E K C A L M E A L V L I S N Q F K p.660
. . . . . . g.32795
AACTACGAGCGTCAGAAGGTGTTCCTAGAGGAGCTGATGGCACCAGTGGCCAGCATCTGG c.2040
N Y E R Q K V F L E E L M A P V A S I W p.680
. . | 19 . . . . g.33408
CTTTCTCAAGACATGCACAG | AGTGCTGTCAGATGTTGATGCTTTCATTGCGTATGTGGGT c.2100
L S Q D M H R | V L S D V D A F I A Y V G p.700
. . . . . . g.33468
ACAGATCAGAAGAGCTGTGACCCAGGCCTGGAGGATCCGTGTGGCTTAAACCGTGCACGA c.2160
T D Q K S C D P G L E D P C G L N R A R p.720
| 20 . . . . . . g.34383
| ATGAGCTTTTGTGTATACAGCATTCTGGGTGTGGTGAAACGAACTTGCTGGCCCACTGAC c.2220
| M S F C V Y S I L G V V K R T C W P T D p.740
. . . . . . g.34443
CTAGAAGAGGCCAAAGCTGGGGGATTTGTGGTGGGTTATACATCCAGTGGAAATCCAATC c.2280
L E E A K A G G F V V G Y T S S G N P I p.760
. . . . . . g.34503
TTCCGTAACCCCTGCACAGAGCAGATTCTGAAACTTCTTGACAATTTGCTTGCGCTTATA c.2340
F R N P C T E Q I L K L L D N L L A L I p.780
| 21 . . . . . . g.47126
AG | AACCCACAATACATTATATGCACCAGAAATGCTAGCCAAAATGGCAGAGCCTTTCACC c.2400
R | T H N T L Y A P E M L A K M A E P F T p.800
. . . . | 22 . . g.49517
AAGGCTCTGGATATGCTTGACGCGGAAAAATCTGCTATATTAG | GATTACCTCAACCTCTC c.2460
K A L D M L D A E K S A I L G | L P Q P L p.820
. . . . . . g.49577
TTGGAACTCAATGACTCTCCTGTCTTCAAAACCGTCTTGGAAAGAATGCAGCGTTTCTTC c.2520
L E L N D S P V F K T V L E R M Q R F F p.840
. . | 23 . . . . g.50291
TCTACCCTCTATGAAAACTG | TTTTCATATCCTAGGGAAGGCAGGCCCTTCCATGCAGCAA c.2580
S T L Y E N C | F H I L G K A G P S M Q Q p.860
. . . . . . g.50351
GACTTCTATACTGTGGAGGACCTTGCTACCCAGCTTCTCAGCTCAGCCTTTGTCAACTTG c.2640
D F Y T V E D L A T Q L L S S A F V N L p.880
. . . | 24. . . g.52173
AACAATATTCCTGACTACCGACTCAGACCCATGCTTC | GTGTCTTTGTAAAGCCTCTGGTG c.2700
N N I P D Y R L R P M L R | V F V K P L V p.900
. . . . . . g.52233
CTCTTCTGTCCCCCAGAGCACTATGAAGCCCTGGTATCCCCCATCCTCGGACCTCTTTTC c.2760
L F C P P E H Y E A L V S P I L G P L F p.920
. | 25 . . . . . g.52915
ACCTACCTCCATATG | AGGCTTTCTCAGAAATGGCAAGTTATCAACCAAAGGAGCCTGCTG c.2820
T Y L H M | R L S Q K W Q V I N Q R S L L p.940
| 26 . . . . . . g.53402
TG | TGGAGAAGATGAGGCTGCAGATGAAAACCCAGAGTCTCAAGAGATGCTGGAGGAGCAA c.2880
C | G E D E A A D E N P E S Q E M L E E Q p.960
. . . . | 27 . . g.54348
CTGGTGAGGATGTTAACCCGAGAAGTCATGGACCTAATCA | CGGTTTGCTGTGTTTCAAAG c.2940
L V R M L T R E V M D L I T | V C C V S K p.980
. . . . | 28 . . g.55171
AAGGGTGCTGACCACAGTAGTGCTCCCCCAGCAGATGGAGACG | ATGAAGAAATGATGGCC c.3000
K G A D H S S A P P A D G D D | E E M M A p.1000
. . . . . . g.55231
ACAGAGGTCACCCCCTCAGCTATGGCAGAGCTTACAGACCTGGGCAAATGTCTGATGAAG c.3060
T E V T P S A M A E L T D L G K C L M K p.1020
| 29 . . . . . . g.55915
CATGAG | GATGTTTGTACAGCGCTATTAATTACAGCCTTCAATTCCCTGGCCTGGAAAGAT c.3120
H E | D V C T A L L I T A F N S L A W K D p.1040
. . . . . | 30 . g.56113
ACTCTGTCCTGCCAGAGGACAACCTCACAGCTCTGCTGGCCTCTCCTCAAACAA | GTGCTG c.3180
T L S C Q R T T S Q L C W P L L K Q | V L p.1060
. . . . . . g.56173
TCAGGGACACTGCTCGCAGATGCAGTTACGTGGCTTTTCACCAGTGTGCTGAAAGGCTTA c.3240
S G T L L A D A V T W L F T S V L K G L p.1080
. . . . . . g.56233
CAGATGCACGGGCAGCACGACGGGTGCATGGCTTCCCTGGTCCATCTGGCCTTCCAGATA c.3300
Q M H G Q H D G C M A S L V H L A F Q I p.1100
. | 31 . . . . . g.56488
TACGAGGCACTG | CGCCCCAGGTACCTGGAGATAAGAGCTGTAATGGAGCAAATCCCTGAA c.3360
Y E A L | R P R Y L E I R A V M E Q I P E p.1120
. . . . . . g.56548
ATACAGAAGGACTCACTGGACCAGTTTGACTGCAAGCTTTTAAACCCCTCCCTGCAGAAA c.3420
I Q K D S L D Q F D C K L L N P S L Q K p.1140
. . . . . | 32. g.57073
GTGGCTGACAAGCGCCGAAAGGACCAATTCAAACGCCTCATTGCTGGTTGCATTGGG | AAA c.3480
V A D K R R K D Q F K R L I A G C I G | K p.1160
. . . . . . g.57133
CCCTTGGGAGAGCAGTTCCGAAAAGAAGTTCACATTAAGAATCTTCCCTCACTTTTCAAA c.3540
P L G E Q F R K E V H I K N L P S L F K p.1180
. . . . . . g.57193
AAAACAAAGCCAATGCTGGAGACGGAGGTGCTGGACAATGATGGGGGTGGCCTGGCCACC c.3600
K T K P M L E T E V L D N D G G G L A T p.1200
. g.57208
ATCTTTGAACCCTGA c.3615
I F E P X p.1204
. . . . . . g.57268
atcaagcttttgggcatccttcctcggcctttcttgtcatctcttctttccctttgtagc c.*60
. . . . . . g.57328
cgatctctaggcccttcttgcactgccacctcactttccaccactgtcagcctggaaaga c.*120
. . . . . . g.57388
gatccaggtctggagctggagagaacaggccctgtgcaggaccagaagtaattatactaa c.*180
. . . . . . g.57448
agtatcaagaaagggagttagggcttaaactattctgtctagatgtcccagatagttccc c.*240
. . . . . . g.57508
attctacttggagatttggcttttccaagaaaagctagagcagagcagcccttctcccac c.*300
. . . . . . g.57568
aagccctcccacccccgtgcagccacatacctgtacagaatggtaactaagggtgctgtg c.*360
. . . . . . g.57628
cccaaccctgcgactagcaaggctcgcagcaagagcacagccctcaactacttgtgccag c.*420
. . . . . . g.57688
agtttctcttggaccactccaactcccactgagcccttttgctgctgggctggcaggaaa c.*480
. . . . . . g.57748
ctttccccactccctaaggggcatgtctgggttaggtgctaagtgctgaagagaacttgg c.*540
. . . . . . g.57808
tcagttctctcaactttgctttgggcaagaatctggtcacctgatgggatccatggtaca c.*600
. . . . . . g.57868
ggctactgctaaacttggcacagtatcaagtatagtacctccaaggaccagggctgggaa c.*660
. . . . . . g.57928
gtctttagtgctaacatcccctttagagttcacacatcttgcccttccatgaatgacccc c.*720
. . . . . . g.57988
tcagtctggcctccccagcctcaaggtccactcaggcacaagagccacagtaccctagat c.*780
. . . . . . g.58048
agtgtcacatgacaccgttgtcatccaaggataatacagaccaactaggctacatctgtg c.*840
. . . . . . g.58108
atgagcagctagcaaagccgctggtcttctcctaggactaagtccaggtgccttccacaa c.*900
. . . . . . g.58168
tctcatggtctttcaggtccctggttacttttctcaaaggccatttccaaaagaatacat c.*960
. . . . . . g.58228
gccttcacatcacaacctgtactgtgagtccattctagaggtcactgaaaggccctgtaa c.*1020
. . . . . . g.58288
agagaggacatggatacgggacctggccctgaggttattactggccgtaaggcagagtta c.*1080
. . . . . . g.58348
atccatacagaaaccagtgtgtccatgtgctctgcacaaaaacagacctgttgtccatcc c.*1140
. . . . . . g.58408
agtccactgacaagagggtttccccgagagccgaagtggactgaagctacagtttttagc c.*1200
. . . . . . g.58468
tggtgcgggccacaggcagggtcagattgagaagaagcaaagctggggaagcagaagttg c.*1260
. . . . . . g.58528
ggagtcttgtgttgctccctcttcctgtgtggtgctctgggtttctgtggatcgtgaagg c.*1320
. . . . . . g.58588
cgatctcaagagtgtttccctccaaacctgatagctgcctattcctgtctggttggggct c.*1380
. . . . . . g.58648
gtggaggatgtagttgtatttattgcattgtaatatttttaacatcctgtgacttcatgc c.*1440
. . . . . . g.58708
tagaaattttctattgtttatagaaactttttgtagaaacattaactctaaagcacatct c.*1500
. . . g.58746
gcatgtcagtaaaaatctcagtttcgtacagaaaggga c.*1538
(downstream sequence)
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