(used for variant description)
(last modified October 25, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_002585.3 in the PBX1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_028246.2, covering PBX1 transcript NM_002585.3.
(upstream sequence)
. . . . g.5043
aaagtttgcattgcaatccccctgccttcctctcctttctccc c.-421
. . . . . . g.5103
gatcaatgcatatttgcaaaaggattaagccacagatttaagcgccgggagcccatttct c.-361
. . . . . . g.5163
gccttgcaaaggagaccggactgaaaaacctaaagccagctctgatttcttttcgccaag c.-301
. . . . . . g.5223
tgggaaggtggtttatttttcttgctttttggagtcaacacccttccccaccagccctta c.-241
. . . . . . g.5283
tccccaccctcaccccgcaaccccttcacgccccctccccctccccctcctcatcctccc c.-181
. . . . . . g.5343
accatcctctaaagaggcaaagggattttttttttcttttggtcttcttttttccccctt c.-121
. . . . . . g.5403
ccctgtttatcctgaaaaggatttgaagacaagcttgaaggataaaaagccttggtgctt c.-61
. . . . . . g.5463
cccaggagccgagccgaggagcagaagaggaagagccgggggctgccgtagcctttggag c.-1
. . . . . . g.5523
ATGGACGAGCAGCCCAGGCTGATGCATTCCCATGCTGGGGTCGGGATGGCCGGACACCCC c.60
M D E Q P R L M H S H A G V G M A G H P p.20
. . . . . . g.5583
GGCCTGTCCCAGCACTTGCAGGATGGGGCCGGAGGGACCGAGGGGGAGGGCGGGAGGAAG c.120
G L S Q H L Q D G A G G T E G E G G R K p.40
. . . . . . g.5643
CAGGACATTGGAGACATTTTACAGCAAATTATGACCATCACAGACCAGAGTTTGGATGAG c.180
Q D I G D I L Q Q I M T I T D Q S L D E p.60
. | 02 . . . . . g.8927
GCGCAGGCCAG | AAAACATGCTTTAAACTGCCACAGAATGAAGCCTGCCTTGTTTAATGTG c.240
A Q A R | K H A L N C H R M K P A L F N V p.80
. . | 03 . . . . g.238169
TTGTGTGAAATCAAAGAAAAAACAG | TTTTGAGTATCCGAGGAGCCCAGGAGGAGGAACCC c.300
L C E I K E K T V | L S I R G A Q E E E P p.100
. . . . . . g.238229
ACAGACCCCCAGCTGATGCGGCTGGACAACATGCTGTTAGCGGAAGGCGTGGCGGGGCCT c.360
T D P Q L M R L D N M L L A E G V A G P p.120
. . . . . . g.238289
GAGAAGGGCGGAGGGTCGGCGGCAGCGGCGGCAGCGGCGGCGGCTTCTGGAGGGGCAGGT c.420
E K G G G S A A A A A A A A A S G G A G p.140
. . . . . . g.238349
TCAGACAACTCAGTGGAGCATTCAGATTACAGAGCCAAACTCTCACAGATCAGACAAATC c.480
S D N S V E H S D Y R A K L S Q I R Q I p.160
. . . | 04 . . . g.245369
TACCATACGGAGCTGGAGAAATACGAGCAG | GCCTGCAACGAGTTCACCACCCACGTGATG c.540
Y H T E L E K Y E Q | A C N E F T T H V M p.180
. . . . . . g.245429
AATCTCCTGCGAGAGCAAAGCCGGACCAGGCCCATCTCCCCAAAGGAGATTGAGCGGATG c.600
N L L R E Q S R T R P I S P K E I E R M p.200
. . . . . . g.245489
GTCAGCATCATCCACCGCAAGTTCAGCTCCATCCAGATGCAGCTCAAGCAGAGCACGTGC c.660
V S I I H R K F S S I Q M Q L K Q S T C p.220
. . . . | 05 . . g.253201
GAGGCGGTGATGATCCTGCGTTCCCGATTTCTGGATGCGCG | GCGGAAGAGACGGAATTTC c.720
E A V M I L R S R F L D A R | R K R R N F p.240
. . . . . . g.253261
AACAAGCAAGCGACAGAAATCCTGAATGAATATTTCTATTCCCATCTCAGCAACCCTTAC c.780
N K Q A T E I L N E Y F Y S H L S N P Y p.260
. . . . . | 06. g.257633
CCCAGTGAGGAAGCCAAAGAGGAGTTAGCCAAGAAGTGTGGCATCACAGTCTCCCAG | GTA c.840
P S E E A K E E L A K K C G I T V S Q | V p.280
. . . . . . g.257693
TCAAACTGGTTTGGAAATAAGCGAATCCGGTACAAGAAGAACATAGGTAAATTTCAAGAG c.900
S N W F G N K R I R Y K K N I G K F Q E p.300
. . . . . . g.257753
GAAGCCAATATTTATGCTGCCAAAACAGCTGTCACTGCTACCAATGTGTCAGCCCATGGA c.960
E A N I Y A A K T A V T A T N V S A H G p.320
. . . | 07. . . g.265735
AGCCAAGCTAACTCGCCCTCAACTCCCAACTCGGCTG | GTTCTTCCAGTTCTTTTAACATG c.1020
S Q A N S P S T P N S A G | S S S S F N M p.340
. . . . . . g.265795
TCAAACTCTGGAGATTTGTTCATGAGCGTGCAGTCACTCAATGGGGATTCTTACCAAGGG c.1080
S N S G D L F M S V Q S L N G D S Y Q G p.360
. . . | 08 . . . g.267207
GCCCAGGTTGGAGCCAACGTGCAATCACAG | GTGGATACCCTTCGCCATGTTATCAGCCAG c.1140
A Q V G A N V Q S Q | V D T L R H V I S Q p.380
. . . . . . g.267267
ACAGGAGGATACAGTGATGGACTCGCAGCCAGTCAGATGTACAGTCCGCAGGGCATCAGT c.1200
T G G Y S D G L A A S Q M Y S P Q G I S p.400
| 09 . . . . . . g.292284
| GCTAATGGAGGTTGGCAGGATGCTACTACCCCTTCATCAGTGACCTCCCCTACAGAAGGC c.1260
| A N G G W Q D A T T P S S V T S P T E G p.420
. . . g.292317
CCTGGCAGTGTTCACTCTGATACCTCCAACTGA c.1293
P G S V H S D T S N X p.430
. . . . . . g.292377
tctcccagcaatcgcatcccggctgaccctgtgccccagttggggcaggggcaggaggga c.*60
. . . . . . g.292437
gggtttctctcccaacgctgaagcggtcagactggaggtcgaagcaatcagcaaacacaa c.*120
. . . . . . g.292497
taagagtctccttctcttctcttctttgggatgctatttcagccaatctggacacttctt c.*180
. . . . . . g.292557
tatactctcttcccttttttttctgggtagaagccacccttccctgcctccagctgtcag c.*240
. . . . . . g.292617
cctggttttcgtcatcttccctgcccctgtgcctctgtcctagactcccggggtccccgc c.*300
. . . . . . g.292677
cctctctcatatcactgaaggatattttcaacaattagaggaatttaaagaggaaaaaaa c.*360
. . . . . . g.292737
ttacaaagaaaataataaaagtgtttgtacgttttcatgctggtggtttgaggagccaaa c.*420
. . . . . . g.292797
tttacctcactcgaatccctcactccctatgttaacaggcaatccttctctgtttctctt c.*480
. . . . . . g.292857
attactctcactacctcttagcaggaatactccacattgccctattcattccaggcctcc c.*540
. . . . . . g.292917
ctgcttcctcttgctcttcctccctggggacagtactgattggaacactttcctcctctt c.*600
. . . . . . g.292977
ccttcctagccccagctattcactggggactgtcatagctgggattctaaaggtgccaca c.*660
. . . . . . g.293037
tttttcagtttcatctccactaggttggttcccgggcaggaagtcaggcagcagggaagg c.*720
. . . . . . g.293097
acacgggaacagcaggtggagaattcctacagtctttcttaccctgctagcaatagctct c.*780
. . . . . . g.293157
cagtttcagaggcacagtctttggagaccattcagcactgagaaagcaatatttagaacc c.*840
. . . . . . g.293217
tattgcaaaactgggcctgagttaggcatggtgatgaatgcatcagcaaggaatagaaag c.*900
. . . . . . g.293277
ttcttatcgtgaaacccttcaacctcaactatgccttcatagacacacacgttcatgcac c.*960
. . . . . . g.293337
atgtaggcacatgtaccatctcacatcttcactttcccgagatgccatatacaattacct c.*1020
. . . . . . g.293397
acattaataactgtagcactatgccttttgagcccgagagagggaattagtgactctaag c.*1080
. . . . . . g.293457
tgaaggtcactgacacagagaagcagtatgtgtctggggcttccaggacctgcaggccca c.*1140
. . . . . . g.293517
ctagcgtgcacttaccagaatggcatacacaggacctgatcatgaggaagaccaggtttc c.*1200
. . . . . . g.293577
cagtgtaaactactcttgttcccaccacctctggagcactcagggagccccatacagtac c.*1260
. . . . . . g.293637
ttacaatgtctttaatggacttgattctgtttaattttttgttttatattaggcacactg c.*1320
. . . . . . g.293697
tattaattttccaaaatgttataccacactatgttcttggtcctgacctattgctctgga c.*1380
. . . . . . g.293757
ggaaagagttgtataagaacgtggctcatgtgaacttttgctagcttcatttgaggacct c.*1440
. . . . . . g.293817
gagaatcatggggaaagggaaggtaatgttttcattgaaatcatcacagtgatttttatt c.*1500
. . . . . . g.293877
ccctgggaacacagcgtgtactaaaaatacatgagaaaatagcatgtatatgaaagctat c.*1560
. . . . . . g.293937
tctcaaaagtcacctgagctcaccatcttcatagccaaccctaccagttataaagatggc c.*1620
. . . . . . g.293997
agctctatcacttgattaagtgggaggtggtcaaatattttggtgcctcattttcttcat c.*1680
. . . . . . g.294057
ctgtgagatgggaactgttatgcctggcttactaagagtcttgtgagagactgagaagtt c.*1740
. . . . . . g.294117
gattttgttcatatccaatctgtaaatgcgaagtcaggggaagtaatgtccctgaaataa c.*1800
. . . . . . g.294177
acgggttcatgccatctagggacaataaatggttttcttgttgtaacttctggttaatat c.*1860
. . . . . . g.294237
cagtaccttgatgtcatcaccgtgatgacaaagagaagagttattgttgatcttcttggt c.*1920
. . . . . . g.294297
tttggtctgtctcttttcttaggataaagaaaaacttccaaactagaaaaacaggccctg c.*1980
. . . . . . g.294357
gttcccttagtttgcacttgaacccaatatgttgccttgtacatacttggtccctgtcac c.*2040
. . . . . . g.294417
attgactgcttgggaggcttccagggagaagtatgagaccctgaggggtgagaatgggca c.*2100
. . . . . . g.294477
gctagcaagaacatggaaattctgcttggcactacagtcataaatagaaaacactgtgtg c.*2160
. . . . . . g.294537
tgctcaggggagcaggggatgccactgaagaaactcaagggaatgtgtatttgaaggaaa c.*2220
. . . . . . g.294597
tgcaaaaactaagtatttagcaaaatgaaattatgccttgatgactaaaaggcactagaa c.*2280
. . . . . . g.294657
aggttgtgtctactaacttcagccctaatcagaacagatgcctagaaggagcatttttgt c.*2340
. . . . . . g.294717
gacaacttcatagtgattagaatcagtggagaactccatcttagtggcaggaatataatg c.*2400
. . . . . . g.294777
aaactacccacgcaagaacatggttgaatcacatttgcttgacttagggcaaagtacgaa c.*2460
. . . . . . g.294837
agagagacaaaagggttctcttggaaacaagaagagtgactccagatgtggcctgaataa c.*2520
. . . . . . g.294897
ttgccatgttaagttaatgcaaaagatcagaacagggctacatttgcacaggcagtttct c.*2580
. . . . . . g.294957
ctccgggccgtagttttcactgatgatcacctttcacagcattttccccaaccagcattt c.*2640
. . . . . . g.295017
cacttagtcttctctatacccagcacctcccccggcacccccggcaagcccactatcact c.*2700
. . . . . . g.295077
tccgacttccaacgtggcatccgtgagatctgtccacattaggcgaagcaggagaacact c.*2760
. . . . . . g.295137
gagagcagcaggatgggtttggaaagagcatgcctctggaaacacagcttcctgggaatt c.*2820
. . . . . . g.295197
cacatgaggccagtcctacagagagcaagatgcaccccaggatttcttcattttctaata c.*2880
. . . . . . g.295257
gatgtgggagtgctccattttccccgacagcgaatttcccctgagaaacgatactagacc c.*2940
. . . . . . g.295317
ctgggtttgcccaccttgtaactcttccttatctcctccttttcatccctaatccatcct c.*3000
. . . . . . g.295377
ccctctggcatggaattgacgcccgtgcagtacatttgccaagtggcaccttctttcaat c.*3060
. . . . . . g.295437
ttatgttttattttgctatggtggtgattctttatttgctggttgtcttttctcacacat c.*3120
. . . . . . g.295497
ctttctctctgtctctctctttcctgctctttgtttttctgcccagaaaaacctgacttc c.*3180
. . . . . . g.295557
gataccaaaaaagatgaaactacagaaactcaaatttaaaaaaaactttaaaagaaacaa c.*3240
. . . . . . g.295617
aaaaatactcaacgattctttcagctttattaacattttccattgtttcttgcgacttgt c.*3300
. . . . . . g.295677
gtctcgttctttgtagtattgatgatgaacatttgataatgaatgttcttgtatattcag c.*3360
. . . . . . g.295737
ataaagaaaaaaaaaaccaaaaaagcggtctgaatttaatagtgtttataataaaaattt c.*3420
. . . . . . g.295797
taaaaatgaccctcatagcacgcaaaacaggatggggaatttcccctcttctttctgtga c.*3480
. . . . . . g.295857
caatgcgcatcattcctgcattagtttttaacaccagactacctacattcatcatttccc c.*3540
. . . . . . g.295917
tcatttttcttttattttcttgcatttgtgaattagttcaagaatgctagaaaagtgtcg c.*3600
. . . . . . g.295977
agttgtgcacatccatttcttgtttcacaatgtttaaaagtgacagtaattcattttgta c.*3660
. . . . . . g.296037
aactaaaaaaaaaaaaaaaaaggttggaatagtgagcataataggtacaacctaacacat c.*3720
. . . . . . g.296097
tattatgtttattaactttgagacccagaaataaattcttttcttttcttgattcttgct c.*3780
. . . . . . g.296157
cttaaaaatacaaaaaaaaaaatgttttgttttgtgttatttttggtttgtttattgggg c.*3840
. . . . . . g.296217
ggctttttttaattgtcaggattatgatcttgctgtttttcttcaatatgtatacaaggt c.*3900
. . . . . . g.296277
gatgtgaaaagatgacttgggcagaggagtaagaacaagtaggcttgttcttctactttg c.*3960
. . . . . . g.296337
cttcagaattcagttaatgccaaaagcgaagatcaagcccatgttgatgtctcgttgctc c.*4020
. . . . . . g.296397
acctgcatttccagagagtgtgacactcatgcagtccctgagaaaaataaaatcagggac c.*4080
. . . . . . g.296457
atacttctccttttagccttttaaaaattcaaaaacgtttagtccaagggaactttttat c.*4140
. . . . . . g.296517
gctatcaggaaaggtttttgctgtttttgattctgattatcacagccaagtactttgttt c.*4200
. . . . . . g.296577
tatttctccctaattaataactacattccatgaggcctcttccaaccaaagaggcctttt c.*4260
. . . . . . g.296637
cttccaggagagtcccgcaggagatgctggtatgatgggcaccattggttaagtaaacta c.*4320
. . . . . . g.296697
catgcaggaagaagtccttggggccagtctgccagctgagtcctggttttggatgaagag c.*4380
. . . . . . g.296757
ttaatgagatattgggccaggctcaatgctgtagttttaatgctaagaggttacgtttac c.*4440
. . . . . . g.296817
ttcacagagtacacctcttagtaacctctgacttaggcagctgcttaaagcaaattgcaa c.*4500
. . . . . . g.296877
aactggcttgatttggaatgtttttattagaggaaaaaagaaagccatattatctggaaa c.*4560
. . . . . . g.296937
aaaattcattttaaataccatcattcaacaaattatgttcagaaagtggtcagaacttaa c.*4620
. . . . . . g.296997
gcaagaaaagtaaagaaagaatgcagaattgtggagcaatgctttaggaaatatttctac c.*4680
. . . . . . g.297057
ctgaacacttgtactcttgaagtcacaacaaaataatgatgagcttttcacatcaccttt c.*4740
. . . . . . g.297117
atggtttcaatccctagctcaaagcttcctggaatcttttattttttgtaaacttttttt c.*4800
. . . . . . g.297177
tcttttgttaaaataaataaaacattcaatgtttttctccttttctctcttattacttct c.*4860
. . . . . . g.297237
ttcctttggcattttcaatttgaaatgctttcctttggttgttggttttattctccccct c.*4920
. . . . . . g.297297
acccctccccttttcttattattcagaatataaacctgcaaagctctgctctgttttggt c.*4980
. . . . . . g.297357
tttgaaagtttaagcttttctgcttctgtgagagcacaggcttctgtcccttttgattcc c.*5040
. . . . . . g.297417
aactgaacttttgtgttctctaatgatactaacacggtgtaggttttacagtctcctaat c.*5100
. . . . . g.297471
ttgtactggtaatgcatattccaaataaatagtttcttttgttgcaaaaaaaaa c.*5154
(downstream sequence)
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