(used for variant description)
(last modified June 10, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_021140.2 in the KDM6A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016260.1, covering KDM6A transcript NM_021140.2.
(upstream sequence)
. g.5015
gtgacacaattacaa c.-361
. . . . . . g.5075
caactttgtgctggtgccggggaagtttgtgtctccaacgaatcccctcagtgctcccca c.-301
. . . . . . g.5135
gccccgcgcgctccggccgttcccgccgtccccgcctgtggctgccccctgcccaacccc c.-241
. . . . . . g.5195
gcgatgtgaccctacagccgaaagccgccgctgccgacccgggggctccgcagcccctgc c.-181
. . . . . . g.5255
cgccgccgccgccgccttcaccgccgccgcgttgggatttttcgtcgccgccgcccgcgg c.-121
. . . . . . g.5315
cggaggaggaggcggcgataaagttggtgtgctggtcccgcgcgcagattgggggcgtca c.-61
. . . . . . g.5375
ctgcgggccccggtccgagggggggtgtcggcgttggagttgtgaattcgctgcgtttcc c.-1
. . . . . . g.5435
ATGAAATCCTGCGGAGTGTCGCTCGCTACCGCCGCCGCTGCCGCCGCCGCTTTCGGTGAT c.60
M K S C G V S L A T A A A A A A A F G D p.20
. . . . . . g.5495
GAGGAAAAGAAAATGGCGGCGGGAAAAGCGAGCGGCGAGAGCGAGGAGGCGTCCCCCAGC c.120
E E K K M A A G K A S G E S E E A S P S p.40
. . . . | 02 . . g.5766
CTGACAGCCGAGGAGAGGGAGGCGCTCGGCGGACTGGACAG | CCGCCTCTTTGGGTTCGTG c.180
L T A E E R E A L G G L D S | R L F G F V p.60
. . . . | 03 . . g.93121
AGATTTCATGAAGATGGCGCCAGGACGAAGGCCCTACTGGGCAAG | GCTGTTCGCTGCTAT c.240
R F H E D G A R T K A L L G K | A V R C Y p.80
. . . . . . g.93181
GAATCTCTAATCTTAAAAGCTGAAGGAAAAGTGGAGTCTGATTTCTTTTGTCAATTAGGT c.300
E S L I L K A E G K V E S D F F C Q L G p.100
. . . | 04 . . . g.106514
CACTTCAACCTCTTATTGGAAGATTATCCAAAAG | CATTATCTGCATACCAGAGGTACTAC c.360
H F N L L L E D Y P K A | L S A Y Q R Y Y p.120
. . | 05 . . . . g.142819
AGTTTACAGTCTGACTACTGGAAG | AATGCTGCCTTTTTATATGGTCTTGGTTTGGTCTAC c.420
S L Q S D Y W K | N A A F L Y G L G L V Y p.140
. . | 06 . . . . g.152469
TTCCATTATAATGCATTTCAGTG | GGCAATTAAAGCATTTCAGGAGGTGCTTTATGTTGAT c.480
F H Y N A F Q W | A I K A F Q E V L Y V D p.160
. . . . . . g.152529
CCCAGCTTTTGTCGAGCCAAGGAAATTCATTTACGACTTGGGCTTATGTTCAAAGTGAAC c.540
P S F C R A K E I H L R L G L M F K V N p.180
. . | 07 . . . . g.166789
ACAGACTATGAGTCTAGTTTAAAG | CATTTTCAGTTAGCTTTGGTTGACTGTAATCCCTGC c.600
T D Y E S S L K | H F Q L A L V D C N P C p.200
. | 08 . . . | 09 . g.183537
ACTTTGTCCAATGCTGAAA | TTCAATTTCACATTGCCCACTTATATGAAACCCAG | AGGAAA c.660
T L S N A E I | Q F H I A H L Y E T Q | R K p.220
. . . . . . g.183597
TATCATTCTGCAAAAGAAGCTTATGAACAACTTTTGCAGACAGAGAATCTTTCTGCACAA c.720
Y H S A K E A Y E Q L L Q T E N L S A Q p.240
. . | 10 . . . g.185683
GTAAAAGCAACTGTCTTACAACAGTTAG | GTTGGATGCATCACACTGTAGATCTCCTGGGA c.780
V K A T V L Q Q L G | W M H H T V D L L G p.260
. . . . . . g.185743
GATAAAGCCACCAAGGAAAGCTATGCTATTCAGTATCTCCAAAAGTCCTTGGAAGCAGAT c.840
D K A T K E S Y A I Q Y L Q K S L E A D p.280
. . . | 11 . . . g.190853
CCTAATTCTGGCCAGTCCTGGTATTTCCTCGGAAG | GTGCTATTCAAGTATTGGGAAAGTT c.900
P N S G Q S W Y F L G R | C Y S S I G K V p.300
. . . . . . g.190913
CAGGATGCCTTTATATCTTACAGGCAGTCTATTGATAAATCAGAAGCAAGTGCAGATACA c.960
Q D A F I S Y R Q S I D K S E A S A D T p.320
. | 12 . . . . . g.191115
TGGTGTTCAATAGG | TGTGCTATATCAGCAGCAAAATCAGCCCATGGATGCTTTACAGGCC c.1020
W C S I G | V L Y Q Q Q N Q P M D A L Q A p.340
. . . . . . g.191175
TATATTTGTGCTGTACAATTGGACCATGGCCATGCTGCAGCCTGGATGGACCTAGGCACT c.1080
Y I C A V Q L D H G H A A A W M D L G T p.360
. . . . . . g.191235
CTCTATGAATCCTGCAACCAGCCTCAGGATGCCATTAAATGCTACTTAAATGCAACTAGA c.1140
L Y E S C N Q P Q D A I K C Y L N A T R p.380
. . . . . | 13 . g.191850
AGCAAAAGTTGTAGTAATACCTCTGCACTTGCAGCACGAATTAAGTATTTACAG | GCTCAG c.1200
S K S C S N T S A L A A R I K Y L Q | A Q p.400
. . . . . . g.191910
TTGTGTAACCTTCCACAAGGTAGTCTACAGAATAAAACTAAATTACTTCCTAGTATTGAG c.1260
L C N L P Q G S L Q N K T K L L P S I E p.420
. . . . . . g.191970
GAGGCGTGGAGCCTACCAATTCCCGCAGAGCTTACCTCCAGGCAGGGTGCCATGAACACA c.1320
E A W S L P I P A E L T S R Q G A M N T p.440
| 14 . . . . . g.193197
GCACAGCAG | AATACTTCTGACAATTGGAGTGGTGGACATGCTGTGTCACATCCTCCAGTA c.1380
A Q Q | N T S D N W S G G H A V S H P P V p.460
. . . . | 15 . . g.194484
CAGCAACAAGCTCATTCATGGTGTTTGACACCACAGAAATTACAG | CATTTGGAACAGCTC c.1440
Q Q Q A H S W C L T P Q K L Q | H L E Q L p.480
. . . . . . g.194544
CGCGCAAATAGAAATAATTTAAATCCAGCACAGAAACTGATGCTGGAACAGCTGGAAAGT c.1500
R A N R N N L N P A Q K L M L E Q L E S p.500
. . | 16. . . . g.195277
CAGTTTGTCTTAATGCAACAACACCAA | ATGAGACCAACAGGAGTTGCACAGGTACGATCT c.1560
Q F V L M Q Q H Q | M R P T G V A Q V R S p.520
. . . . . . g.195337
ACTGGAATTCCTAATGGGCCAACAGCTGACTCATCACTGCCTACAAACTCAGTCTCTGGC c.1620
T G I P N G P T A D S S L P T N S V S G p.540
. . . . . . g.195397
CAGCAGCCACAGCTTGCTCTGACCAGAGTGCCTAGCGTCTCTCAGCCTGGAGTCCGTCCT c.1680
Q Q P Q L A L T R V P S V S Q P G V R P p.560
. . . . . . g.195457
GCCTGCCCTGGGCAGCCTTTGGCCAATGGACCCTTTTCTGCAGGCCATGTTCCCTGTAGC c.1740
A C P G Q P L A N G P F S A G H V P C S p.580
. . . . . . g.195517
ACATCAAGAACGCTGGGAAGTACAGACACTATTTTGATAGGCAATAATCATATAACAGGA c.1800
T S R T L G S T D T I L I G N N H I T G p.600
. . . . . . g.195577
AGTGGAAGTAATGGAAACGTGCCTTACCTGCAGCGAAACGCACTCACTCTACCTCATAAC c.1860
S G S N G N V P Y L Q R N A L T L P H N p.620
. . . . . . g.195637
CGCACAAACCTGACCAGCAGCGCAGAGGAGCCGTGGAAAAACCAACTATCTAACTCCACT c.1920
R T N L T S S A E E P W K N Q L S N S T p.640
| 17 . . . . . . g.201458
CAG | GGGCTTCACAAAGGTCAGAGTTCACATTCGGCAGGTCCTAATGGTGAACGACCTCTC c.1980
Q | G L H K G Q S S H S A G P N G E R P L p.660
. . . . . . g.201518
TCTTCCACTGGGCCTTCCCAGCATCTCCAGGCAGCTGGCTCTGGTATTCAGAATCAGAAC c.2040
S S T G P S Q H L Q A A G S G I Q N Q N p.680
. . . . . . g.201578
GGACATCCCACCCTGCCTAGCAATTCAGTAACACAGGGGGCTGCTCTCAATCACCTCTCC c.2100
G H P T L P S N S V T Q G A A L N H L S p.700
. . . . . . g.201638
TCTCACACTGCTACCTCAGGTGGACAACAAGGCATTACCTTAACCAAAGAGAGCAAGCCT c.2160
S H T A T S G G Q Q G I T L T K E S K P p.720
. . . . . . g.201698
TCAGGAAACATATTGACGGTGCCTGAAACAAGCAGGCACACTGGAGAGACACCTAACAGC c.2220
S G N I L T V P E T S R H T G E T P N S p.740
. . . . . . g.201758
ACTGCCAGTGTCGAGGGACTTCCTAATCATGTCCATCAGATGACGGCAGATGCTGTTTGC c.2280
T A S V E G L P N H V H Q M T A D A V C p.760
. . . . . . g.201818
AGTCCTAGCCATGGAGATTCTAAGTCACCAGGTTTACTAAGTTCAGACAATCCTCAGCTC c.2340
S P S H G D S K S P G L L S S D N P Q L p.780
. . . . . . g.201878
TCTGCCTTGTTGATGGGAAAAGCCAATAACAATGTGGGTACTGGAACCTGTGACAAAGTC c.2400
S A L L M G K A N N N V G T G T C D K V p.800
. . . . . . g.201938
AATAACATCCACCCAGCTGTTCATACAAAGACTGATAACTCTGTTGCCTCTTCACCATCT c.2460
N N I H P A V H T K T D N S V A S S P S p.820
. . . . . . g.201998
TCAGCCATTTCAACAGCAACACCTTCTCCAAAATCCACTGAGCAGACAACCACAAACAGT c.2520
S A I S T A T P S P K S T E Q T T T N S p.840
. . . . . . g.202058
GTTACCAGCCTTAACAGCCCTCACAGTGGGCTACACACAATTAATGGAGAAGGGATGGAA c.2580
V T S L N S P H S G L H T I N G E G M E p.860
. . . . . . g.202118
GAATCTCAGAGCCCCATGAAAACAGATCTGCTTCTGGTTAACCACAAACCTAGTCCACAG c.2640
E S Q S P M K T D L L L V N H K P S P Q p.880
. . . . . . g.202178
ATCATACCATCAATGTCTGTGTCCATATACCCCAGCTCAGCAGAAGTTCTGAAGGCATGC c.2700
I I P S M S V S I Y P S S A E V L K A C p.900
| 18 . . . . . . g.208577
AG | GAATCTAGGTAAAAATGGCTTATCTAACAGTAGCATTTTGTTGGATAAATGTCCACCT c.2760
R | N L G K N G L S N S S I L L D K C P P p.920
. . . . . . g.208637
CCAAGACCACCATCTTCACCATACCCTCCCTTGCCAAAGGACAAGTTGAATCCACCTACA c.2820
P R P P S S P Y P P L P K D K L N P P T p.940
. | 19 . . . . . g.210270
CCTAGTATTTAC | TTGGAAAATAAACGTGATGCTTTCTTTCCTCCATTACATCAATTTTGT c.2880
P S I Y | L E N K R D A F F P P L H Q F C p.960
. . . . . | 20 g.210970
ACAAATCCGAACAACCCTGTTACAGTAATACGTGGCCTTGCTGGAGCTCTTAAGTTAG | AC c.2940
T N P N N P V T V I R G L A G A L K L D | p.980
. . . . . . g.211030
CTGGGACTTTTCTCTACTAAAACTTTGGTGGAAGCTAACAATGAACATATGGTAGAAGTG c.3000
L G L F S T K T L V E A N N E H M V E V p.1000
. . . . . . g.211090
AGGACACAGTTGTTGCAGCCAGCAGATGAAAACTGGGATCCCACTGGAACAAAGAAAATC c.3060
R T Q L L Q P A D E N W D P T G T K K I p.1020
. . . . . . g.211150
TGGCATTGTGAAAGTAATAGATCTCATACTACAATTGCTAAATATGCACAGTACCAGGCC c.3120
W H C E S N R S H T T I A K Y A Q Y Q A p.1040
. . | 21 . . . . g.214434
TCCTCATTCCAGGAATCATTGAGA | GAAGAAAATGAAAAAAGAAGTCATCATAAAGACCAC c.3180
S S F Q E S L R | E E N E K R S H H K D H p.1060
. . | 22 . . . g.214568
TCAGATAGTGAATCTACATCGTCAGATAA | TTCTGGGAGGAGGAGGAAAGGACCCTTTAAA c.3240
S D S E S T S S D N | S G R R R K G P F K p.1080
. . . . | 23 . . g.215298
ACCATAAAGTTTGGGACCAATATTGACCTATCTGATGACAAAAA | GTGGAAGTTGCAGCTA c.3300
T I K F G T N I D L S D D K K | W K L Q L p.1100
. . . . . . g.215358
CATGAGCTGACTAAACTTCCTGCTTTTGTGCGTGTCGTATCAGCAGGAAATCTTCTAAGC c.3360
H E L T K L P A F V R V V S A G N L L S p.1120
. . . . . . g.215418
CATGTTGGTCATACCATATTGGGCATGAACACAGTTCAACTATACATGAAAGTTCCAGGG c.3420
H V G H T I L G M N T V Q L Y M K V P G p.1140
. | 24 . . . . . g.217734
AGCAGAACACCAG | GTCATCAGGAAAATAACAACTTCTGTTCAGTTAACATAAATATTGGC c.3480
S R T P G | H Q E N N N F C S V N I N I G p.1160
. . . . . . g.217794
CCAGGTGACTGTGAATGGTTTGTTGTTCCTGAAGGTTACTGGGGTGTTCTGAATGACTTC c.3540
P G D C E W F V V P E G Y W G V L N D F p.1180
| 25 . . . . . g.221617
TGTGAAAA | AAATAATTTGAATTTCCTAATGGGTTCTTGGTGGCCCAATCTTGAAGATCTT c.3600
C E K | N N L N F L M G S W W P N L E D L p.1200
. . . . . . g.221677
TATGAAGCAAATGTTCCAGTGTATAGGTTTATTCAGCGACCTGGAGATTTGGTCTGGATA c.3660
Y E A N V P V Y R F I Q R P G D L V W I p.1220
. . . . . . g.221737
AATGCAGGCACTGTTCATTGGGTTCAGGCTATTGGCTGGTGCAACAACATTGCTTGGAAT c.3720
N A G T V H W V Q A I G W C N N I A W N p.1240
. | 26 . . . . . g.222589
GTTGGTCCACTTACAG | CCTGCCAGTATAAATTGGCAGTGGAACGGTACGAATGGAACAAA c.3780
V G P L T A | C Q Y K L A V E R Y E W N K p.1260
. . . . . . g.222649
TTGCAAAGTGTGAAGTCAATAGTACCCATGGTTCATCTTTCCTGGAATATGGCACGAAAT c.3840
L Q S V K S I V P M V H L S W N M A R N p.1280
. . . | 27 . . g.239254
ATCAAGGTCTCAGATCCAAAGCTTTTTGAAATGATTAA | GTATTGTCTTCTAAGAACTCTG c.3900
I K V S D P K L F E M I K | Y C L L R T L p.1300
. . . . . . g.239314
AAGCAATGTCAGACATTGAGGGAAGCTCTCATTGCTGCAGGAAAAGAGATTATATGGCAT c.3960
K Q C Q T L R E A L I A A G K E I I W H p.1320
. . . . | 28 . . g.241916
GGGCGGACAAAAGAAGAACCAGCTCATTACTGTAGCATTTGTGAA | GTGGAGGTTTTTGAT c.4020
G R T K E E P A H Y C S I C E | V E V F D p.1340
. . . . . . g.241976
CTGCTTTTTGTCACTAATGAGAGTAATTCACGAAAGACCTACATAGTACATTGCCAAGAT c.4080
L L F V T N E S N S R K T Y I V H C Q D p.1360
. . . . . . g.242036
TGTGCACGAAAAACAAGCGGAAACTTGGAAAACTTTGTGGTGCTAGAACAGTACAAAATG c.4140
C A R K T S G N L E N F V V L E Q Y K M p.1380
. . . | 29 . . . g.243228
GAGGACCTGATGCAAGTCTATGACCAATTTACATTA | GCTCCTCCATTACCATCCGCCTCA c.4200
E D L M Q V Y D Q F T L | A P P L P S A S p.1400
g.243234
TCTTGA c.4206
S X p.1401
. . . . . . g.243294
tattgttccatggacattaaatgagaccttttctgctattcaggaaataacccagttctg c.*60
. . . . . . g.243354
caccactggtttttgtagctatctcgtaaggctgctggctgaaaactgtgtctatgcaac c.*120
. . . . . . g.243414
cttccaagtgcggagtgtcaaccaactggacgggagagagtactgctcctactccaggac c.*180
. . . . . . g.243474
tctcacaaagctgatgagctgtacttcagaaaaaaataataatttccatgttttgtatat c.*240
. . . . . . g.243534
atctgacaaaactggcaacatcttacagactactgacttgaagacaacctcttttatatt c.*300
. . . . . . g.243594
tctctatttctgggctgatgaatttgttttcatctgtcttttcccccttcagaattttcc c.*360
. . . . . . g.243654
ttggaaaaaaaatactagcctagctggtcatttctttgtaaggtagttagcaattttaag c.*420
. . . . . . g.243714
tctttctttggtcaacttttttttaatgtgaaaagttaggtaagacacttttttactgct c.*480
. . . . . . g.243774
tttatgtttttctgtcttgttttgagaccatgatggttacacttttggttcctaaataaa c.*540
. . . . . . g.243834
atttaaaaaattaacagccaagtcacaaaggtaatggattgcacatagactaaggaataa c.*600
. . . . . . g.243894
acttcagatttgtgatttttgtttctaatcttgatgtaaatttacactatttataaatac c.*660
. . . . . . g.243954
atatttattgcttgaaaatatttgtgaatggaatgctgttattttttccagatttacctg c.*720
. . . . . . g.244014
ccattgaaattttaaggagttctgtaatttcaaacactactcctattacattttctatgt c.*780
. . . . . . g.244074
gtaaataaaactgcttagcattgtacagaaacttttattaaaattgtttaatgtttaaag c.*840
. . . . . . g.244134
agttttctattgtttgagttttaaaaaagactttatgtacagtgcccagtttttgttcat c.*900
. . . . . . g.244194
ttttgaaatctgattatatatattttatatatacttatgtatgtatatataatatatata c.*960
. . . . . . g.244254
gaaatctggatatatatgtataaatctttagaacttaaatttttctcgttttaagtttca c.*1020
. . . . . . g.244314
catctatggtagatttttgaggtgtctactgtaaagtattgcttacaaaaagtatgatta c.*1080
. . . . . . g.244374
tttttaaagaaatatatatggtatgtatcctcaagacctaaaatgtcagactggtttatt c.*1140
. . . . . g.244425
gttaagttgcaattactgcaatgacagaccaataaacaattgctgccaaaa c.*1191
(downstream sequence)
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