(used for variant description)
(last modified February 6, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_001356.3 in the DDX3X gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012830.2, covering DDX3X transcript NM_001356.3.
(upstream sequence)
. g.5015
ctttccccttactcc c.-841
. . . . . . g.5075
gctcccctcttttccctccctctcctccccttccctctgttctctcctcctcttcccctc c.-781
. . . . . . g.5135
ccctcccccgtccggagcactctatattcaagccaccgtttcctgcttcacaaaatggcc c.-721
. . . . . . g.5195
accgcacgcgacacctacggtcacgtggcctgccgccctctcagtttcgggaatctgcct c.-661
. . . . . . g.5255
agctcccactaaggggaggctacccgcggaagagcgagggcagattagaccggagaaatc c.-601
. . . . . . g.5315
ccaccacatctccaagcccgggaactgagagaggaagaagagtgaaggccagtgttagga c.-541
. . . . . . g.5375
aaaaaaaaacaaaaacaaaaaaaacgaaaaacgaaagctgagtgcatagagttggaaagg c.-481
. . . . . . g.5435
ggagcgaatgcgtaaggttggaaaggggggcgaagaggcctaggttaacattttcaggcg c.-421
. . . . . . g.5495
tcttagccggtggaaagcgggagacgcaagttctcgcgagatctcgagaactccgaggct c.-361
. . . . . . g.5555
gagactagggttttagcggagagcacgggaagtgtagctcgagagaactgggacagcatt c.-301
. . . . . . g.5615
tcgcaccctaagctccaaggcaggactgctaggggcgacaggactaagtaggaaatccct c.-241
. . . . . . g.5675
tgagcttagacctgagggagcgcgcagtagccgggcagaagtcgccgcgacagggaattg c.-181
. . . . . . g.5735
cggtgtgagagggagggcacacgttgtacgtgctgacgtagccggctttccagcgggtat c.-121
. . . . . . g.5795
attagatccgtggccgcgcggtgcgctccagagccgcagttctcccgtgagagggccttc c.-61
. . . . . . g.5855
gcggtggaacaaacactcgcttagcagcggaagactccgagttctcggtactcttcaggg c.-1
. . . . | 02 . . g.9025
ATGAGTCATGTGGCAGTGGAAAATGCGCTCGGGCTGGACCAGCAG | TTTGCTGGCCTAGAC c.60
M S H V A V E N A L G L D Q Q | F A G L D p.20
. . . . | 03 . . g.10655
CTGAACTCTTCAGATAATCAGAGTGGAGGAAGTACAGCCAGCA | AAGGGCGCTATATTCCT c.120
L N S S D N Q S G G S T A S K | G R Y I P p.40
. . . | 04 . . . g.13115
CCTCATTTAAGGAACCGAGAAGCTACTAAAG | GTTTCTACGATAAAGACAGTTCAGGGTGG c.180
P H L R N R E A T K G | F Y D K D S S G W p.60
. . . . . . g.13175
AGTTCTAGCAAAGATAAGGATGCGTATAGCAGTTTTGGATCTCGTAGTGATTCAAGAGGG c.240
S S S K D K D A Y S S F G S R S D S R G p.80
. . . . | 05 . . g.14113
AAGTCTAGCTTCTTCAGTGATCGTGGAAGTGGATCAAGGGGAAG | GTTTGATGATCGTGGA c.300
K S S F F S D R G S G S R G R | F D D R G p.100
. . . . . . g.14173
CGGAGTGATTACGATGGCATTGGCAGCCGTGGTGACAGAAGTGGCTTTGGCAAATTTGAA c.360
R S D Y D G I G S R G D R S G F G K F E p.120
. . . . . . g.14233
CGTGGTGGAAACAGTCGCTGGTGTGACAAATCAGATGAAGATGATTGGTCAAAACCACTC c.420
R G G N S R W C D K S D E D D W S K P L p.140
. . | 06 . . . . g.14376
CCACCAAGTGAACGCTTGGAACA | GGAACTCTTTTCTGGAGGCAACACTGGGATTAATTTT c.480
P P S E R L E Q | E L F S G G N T G I N F p.160
. . . . . . g.14436
GAGAAATACGATGACATTCCAGTTGAGGCAACAGGCAACAACTGTCCTCCACATATTGAA c.540
E K Y D D I P V E A T G N N C P P H I E p.180
| 07 . . . . . . g.14875
AGT | TTCAGTGATGTTGAGATGGGAGAAATTATCATGGGAAACATTGAGCTTACTCGTTAT c.600
S | F S D V E M G E I I M G N I E L T R Y p.200
. . . . . . g.14935
ACTCGCCCAACTCCAGTGCAAAAGCATGCTATTCCTATTATCAAAGAGAAAAGAGACTTG c.660
T R P T P V Q K H A I P I I K E K R D L p.220
. | 08 . . . . g.15380
ATGGCTTGTGCCCAAACAG | GGTCTGGAAAAACTGCAGCATTTCTGTTGCCCATCTTGAGT c.720
M A C A Q T G | S G K T A A F L L P I L S p.240
. . . . | 09 . . g.15647
CAGATTTATTCAGATGGTCCAGGCGAGGCTTTGAGGGCCATGAAG | GAAAATGGAAGGTAT c.780
Q I Y S D G P G E A L R A M K | E N G R Y p.260
. . . . . . g.15707
GGGCGCCGCAAACAATACCCAATCTCCTTGGTATTAGCACCAACGAGAGAGTTGGCAGTA c.840
G R R K Q Y P I S L V L A P T R E L A V p.280
. . | 10 . . . . g.15877
CAGATCTACGAGGAAGCCAGAAAA | TTTTCATACCGATCTAGAGTTCGTCCTTGCGTGGTT c.900
Q I Y E E A R K | F S Y R S R V R P C V V p.300
. . . . . . g.15937
TATGGTGGTGCCGATATTGGTCAGCAGATTCGAGACTTGGAACGTGGATGCCATTTGTTA c.960
Y G G A D I G Q Q I R D L E R G C H L L p.320
. . . . . . g.15997
GTAGCCACTCCAGGACGTCTAGTGGATATGATGGAAAGAGGAAAGATTGGATTAGACTTT c.1020
V A T P G R L V D M M E R G K I G L D F p.340
| 11 . . . . . . g.16837
TGCAA | ATACTTGGTGTTAGATGAAGCTGATCGGATGTTGGATATGGGGTTTGAGCCTCAG c.1080
C K | Y L V L D E A D R M L D M G F E P Q p.360
. . . . . . g.16897
ATTCGTAGAATAGTCGAACAAGATACTATGCCTCCAAAGGGTGTCCGCCACACTATGATG c.1140
I R R I V E Q D T M P P K G V R H T M M p.380
. . . | 12 . . . g.17036
TTTAGTGCTACTTTTCCTAAGGAAATACAG | ATGCTGGCTCGTGATTTCTTAGATGAATAT c.1200
F S A T F P K E I Q | M L A R D F L D E Y p.400
. . . . . . g.17096
ATCTTCTTGGCTGTAGGAAGAGTTGGCTCTACCTCTGAAAACATCACACAGAAAGTAGTT c.1260
I F L A V G R V G S T S E N I T Q K V V p.420
. . . . . | 13 . g.17836
TGGGTGGAAGAATCAGACAAACGGTCATTTCTGCTTGACCTCCTAAATGCAACAG | GCAAG c.1320
W V E E S D K R S F L L D L L N A T G | K p.440
. . . . . . g.17896
GATTCACTGACCTTAGTGTTTGTGGAGACCAAAAAGGGTGCAGATTCTCTGGAGGATTTC c.1380
D S L T L V F V E T K K G A D S L E D F p.460
. . . . . . g.17956
TTATACCATGAAGGATACGCATGTACCAGCATCCATGGAGACCGTTCTCAGAGGGATAGA c.1440
L Y H E G Y A C T S I H G D R S Q R D R p.480
. . . . . | 14. g.18110
GAAGAGGCCCTTCACCAGTTCCGCTCAGGAAAAAGCCCAATTTTAGTGGCTACAGCA | GTA c.1500
E E A L H Q F R S G K S P I L V A T A | V p.500
. . . . . . g.18170
GCAGCAAGAGGACTGGACATTTCAAATGTGAAACATGTTATCAATTTTGACTTGCCAAGT c.1560
A A R G L D I S N V K H V I N F D L P S p.520
. . . . . | 15 . g.18466
GATATTGAAGAATATGTACATCGTATTGGTCGTACGGGACGTGTAGGAAACCTTG | GCCTG c.1620
D I E E Y V H R I G R T G R V G N L G | L p.540
. . . . . . g.18526
GCAACCTCATTCTTTAACGAGAGGAACATAAATATTACTAAGGATTTGTTGGATCTTCTT c.1680
A T S F F N E R N I N I T K D L L D L L p.560
. . . . . . g.18586
GTTGAAGCTAAACAAGAAGTGCCGTCTTGGTTAGAAAACATGGCTTATGAACACCACTAC c.1740
V E A K Q E V P S W L E N M A Y E H H Y p.580
. . | 16 . . . g.18945
AAGGGTAGCAGTCGTGGACGTTCTAAGAG | TAGCAGATTTAGTGGAGGGTTTGGTGCCAGA c.1800
K G S S R G R S K S | S R F S G G F G A R p.600
. . . . . . g.19005
GACTACCGACAAAGTAGCGGTGCCAGCAGTTCCAGCTTCAGCAGCAGCCGCGCAAGCAGC c.1860
D Y R Q S S G A S S S S F S S S R A S S p.620
. . . . | 17 . g.19253
AGCCGCAGTGGCGGAGGTGGCCACGGTAGCAGCAGAGGATTTGGTGGAG | GTGGCTATGGA c.1920
S R S G G G G H G S S R G F G G G | G Y G p.640
. . . . . . g.19313
GGCTTTTACAACAGTGATGGATATGGAGGAAATTATAACTCCCAGGGGGTTGACTGGTGG c.1980
G F Y N S D G Y G G N Y N S Q G V D W W p.660
g.19322
GGTAACTGA c.1989
G N X p.662
. . . . . . g.19382
gcctgctttgcagtaggtcaccctgccaaacaagctaatatggaaaccacatgtaactta c.*60
. . . . . . g.19442
gccagactataccttgtgtagcttcaagaactcgcagtacattaccagctgtgattctcc c.*120
. . . . . . g.19502
actgaaattttttttttaagggagctcaaggtcacaagaagaaatgaaaggaacaatcag c.*180
. . . . . . g.19562
cagccctgttcagaaggtggtttgaagacttcattgctgtagtttggattaactcccctc c.*240
. . . . . . g.19622
ccgcctacccccatcccaaactgcatttataattttgtgactgaggatcatttgtttgtt c.*300
. . . . . . g.19682
aatgtactgtgcctttaactttagacaactttttattttgatgtcctgttggctcagtaa c.*360
. . . . . . g.19742
tgctcaagatatcaattgttttgacaaaataaatttactgaacttgggctaaaatcaaac c.*420
. . . . . . g.19802
cttggcacacaggtgtgatacaacttaacaggaatcatcgattcatccataaataatata c.*480
. . . . . . g.19862
aggaaaaacttatgcggtagcctgcattagggctttttgatacttgcagattgggggaaa c.*540
. . . . . . g.19922
acaacaaatgtcttgaagcatattaatggaattagtttctaatgtggcaaactgtattaa c.*600
. . . . . . g.19982
gttaaagttctgatttgctcactctatcctggataggtatttagaacctgatagtcttta c.*660
. . . . . . g.20042
agccattccagtcatgatgaggtgatgtatgaatacatgcatacattcaaagcactgttt c.*720
. . . . . . g.20102
tcaaagttaatgcaagtaaatacagcaattcctctttcaacgtttaggcagatcattaat c.*780
. . . . . . g.20162
tatgagctagccaaatgtgggcatactattacagggaaagtttaaaggtctgataacttg c.*840
. . . . . . g.20222
aaataggtttttaggagaattcatctacttagactttttaaatgcctgccataaatgaaa c.*900
. . . . . . g.20282
ttgaaatggtagaatggctgaccacagcaatgaccagccctcattagggccctggatgat c.*960
. . . . . . g.20342
ttttggtctaataacgcatgctagtgttgatgttttttggtcaagagggtatgaacagga c.*1020
. . . . . . g.20402
agaattaaatgcagcaggctttattttaaatgccgattcacattactctgttcaagctgc c.*1080
. . . . . . g.20462
gttgagatgttaaactggcttactatagacttcgtaaaaatggctccagaagagtaacaa c.*1140
. . . . . . g.20522
actgaaatctttgagatcacacaggttggaaatatgtacataactgcacaaggtgtcaat c.*1200
. . . . . . g.20582
tctgctctacagtgcagttttagtcagttttagttgcataggtttccattgtatttatag c.*1260
. . . . . . g.20642
tctgtttatgctaaatctggccaaagatgagcattgtccaccactaaaatgcctctgcca c.*1320
. . . . . . g.20702
ctttgaattctgtgctaattttgtggccagaatgcggtgatcaaaacgctccatcttttt c.*1380
. . . . . . g.20762
acagtggcataggaagacggcaaaaatttcctaaagtgcaatagattttcaagtgtattg c.*1440
. . . . . . g.20822
tgccttgttctaaaacttttattaagtaggtgcacttgacagtattgaggtcatttgtta c.*1500
. . . . . . g.20882
tggtgctatttcaattagtctaggtttaggcccttgtacattttgcccataactttttac c.*1560
. . . . . . g.20942
aaagtacttcttttattgcacattcagagaattttatatatatgtcttgtgtgcgtgtcc c.*1620
. . . . . . g.21002
ttaaacttccaatcttactttgtctcttggagattgttgaacgcagcttgtctaggaagg c.*1680
. . . . . . g.21062
ggatgggactagattctaaaatttatttgggaccatgggaatgatagttgggaagaaaac c.*1740
. . . . . . g.21122
tatttgcacacgacagatttctagatactttttgctgctagttttatgtaatatttattg c.*1800
. . . . . . g.21182
aacattttgacaaatatttatttttgtaagcctaaaagtgattctttgaaagtttaaaga c.*1860
. . . . . . g.21242
aacttgaccaaaagacagtacaaaaacactggcacttgaatgttgaatgtcaccgtatgc c.*1920
. . . . . . g.21302
gtgaaattatatatttcggggtagtgtgagcttttaatgtttaagtcatattaaactctt c.*1980
. . . . . . g.21362
aagtcaaattaagcagacccggcgttggcagtgtagccataactttctgatgttagtaaa c.*2040
. . . . . . g.21422
aacaaaattggcgacttgaaattaaatcatgccaaggttttgatacacttgtcttaagat c.*2100
. . . . . . g.21482
attaatgaaacacttcaaaacactgatgtgaagtgtccagattctcagatgtttgttgtg c.*2160
. . . . . . g.21542
tggattttgtttagttgtgtgtttttttttttttttcagtgaatgtctggcacattgcaa c.*2220
. . . . . . g.21602
tcctcaaacatgtggttatctttgttgtattggcataatcagtgacttgtacattcagca c.*2280
. . . . . . g.21662
atagcatttgagcaagttttatcagcaagcaatattttcagttaataaggtttcaaaaat c.*2340
. . . . . . g.21722
catgtaaggatttaaacttgctgaatgtaaagattgaacctcaagtcactgtagctttag c.*2400
. . . . . . g.21782
taattgcttattgtattagtttagatgctagcactgcatgtgctgtgcatattctgattt c.*2460
. . . . . . g.21842
tattaaaataaaaagttgaactgcacagtctcctttgttgttgtcaattgtggtttattt c.*2520
. . . g.21877
tcagaggtgtaaataaagtgctcttgcctgaaaaa c.*2555
(downstream sequence)
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