(used for variant description)
(last modified August 5, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_001357.4 in the DHX9 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering DHX9 transcript NM_001357.4.
(upstream sequence)
. . . . . g.5055
atgcgtacgctcgctggccccgccccctagcgccgcggtcggagccatttcgccg c.-121
. . . . . . g.5115
attcctccatgcgagttgctgtgcgtttctctgttgtctcggtagaaggccagagtcaca c.-61
. . . . | 02. . g.8263
cacggtcctaagagctgggcaccaggaagcgaaggctg | atctgaagaagacacttgaatc c.-1
. . . . . . g.8323
ATGGGTGACGTTAAAAATTTTCTGTATGCCTGGTGTGGCAAAAGGAAGATGACCCCATCC c.60
M G D V K N F L Y A W C G K R K M T P S p.20
. . . . . | 03 . g.8999
TATGAAATTAGAGCAGTGGGGAACAAAAACAGGCAGAAATTCATGTGTGAG | GTTCAGGTG c.120
Y E I R A V G N K N R Q K F M C E | V Q V p.40
. . . . . . g.9059
GAAGGTTATAATTACACTGGCATGGGAAATTCCACCAATAAAAAAGATGCACAAAGCAAT c.180
E G Y N Y T G M G N S T N K K D A Q S N p.60
. . . . . . g.9119
GCTGCCAGAGACTTTGTTAACTATTTGGTTCGAATAAATGAAATAAAGAGTGAAGAAGTT c.240
A A R D F V N Y L V R I N E I K S E E V p.80
. | 04 . . . . . g.17977
CCAGCTTTTGGG | GTAGCATCTCCGCCCCCACTTACTGATACTCCTGACACTACAGCAAAT c.300
P A F G | V A S P P P L T D T P D T T A N p.100
. . . . . . g.18037
GCTGAAGGAGATTTACCAACAACCATGGGAGGACCTCTTCCTCCACATCTGGCTCTCAAA c.360
A E G D L P T T M G G P L P P H L A L K p.120
| 05 . . . . . . g.19058
GCAG | AAAATAATTCTGAGGTAGGGGCCTCTGGCTATGGTGTTCCTGGGCCCACCTGGGAC c.420
A E | N N S E V G A S G Y G V P G P T W D p.140
. . . . . | 06. g.19729
CGAGGAGCCAACTTGAAGGATTACTACTCAAGAAAGGAAGAACAAGAAGTGCAAGCG | ACT c.480
R G A N L K D Y Y S R K E E Q E V Q A | T p.160
. . . . . . g.19789
CTAGAATCAGAAGAAGTGGATTTAAATGCTGGGCTTCATGGAAACTGGACCTTGGAAAAT c.540
L E S E E V D L N A G L H G N W T L E N p.180
. . . . . . g.19849
GCTAAAGCTCGTCTAAACCAATATTTTCAGAAAGAAAAGATCCAAGGAGAATATAAGTAC c.600
A K A R L N Q Y F Q K E K I Q G E Y K Y p.200
. . | 07 . . . . g.22262
ACCCAAGTGGGTCCTGATCACAACAG | GAGCTTTATTGCAGAAATGACCATTTATATCAAG c.660
T Q V G P D H N R | S F I A E M T I Y I K p.220
. | 08 . . . . . g.23847
CAGCTGGGCAGAA | GGATTTTTGCACGAGAACATGGATCAAATAAGAAATTGGCAGCACAG c.720
Q L G R R | I F A R E H G S N K K L A A Q p.240
. . . . . . g.23907
TCCTGTGCCCTGTCACTTGTCAGACAACTGTACCATCTTGGAGTGGTTGAAGCTTACTCC c.780
S C A L S L V R Q L Y H L G V V E A Y S p.260
. . . | 09 . . . g.24277
GGACTTACAAAGAAGAAGGAAGGAGAGACA | GTGGAGCCTTACAAAGTAAACCTCTCTCAA c.840
G L T K K K E G E T | V E P Y K V N L S Q p.280
. . . . . . g.24337
GATTTAGAGCATCAGCTGCAAAACATCATTCAAGAGCTAAATCTTGAGATTTTGCCCCCG c.900
D L E H Q L Q N I I Q E L N L E I L P P p.300
| 10 . . . . . . g.24489
| CCTGAAGATCCTTCTGTGCCAGTTGCACTCAACATTGGCAAATTGGCTCAGTTCGAACCA c.960
| P E D P S V P V A L N I G K L A Q F E P p.320
. . . . . . g.24549
TCTCAGCGACAAAACCAAGTGGGTGTGGTTCCTTGGTCACCTCCACAATCCAACTGGAAT c.1020
S Q R Q N Q V G V V P W S P P Q S N W N p.340
. . . . | 11 . . g.24754
CCTTGGACTAGTAGCAACATTGATGAGGGGCCTCTGGCTTTT | GCTACTCCAGAGCAAATA c.1080
P W T S S N I D E G P L A F | A T P E Q I p.360
. . . . . . g.24814
AGCATGGACCTCAAGAATGAATTGATGTACCAGTTGGAACAGGATCATGATTTGCAAGCA c.1140
S M D L K N E L M Y Q L E Q D H D L Q A p.380
| 12 . . . . . . g.25749
| ATCTTGCAGGAGAGAGAGTTACTGCCTGTGAAGAAATTTGAAAGTGAGATTCTGGAAGCA c.1200
| I L Q E R E L L P V K K F E S E I L E A p.400
. . . . . . g.25809
ATCAGCCAAAATTCAGTTGTCATTATTAGAGGGGCTACTGGATGTGGGAAAACCACACAG c.1260
I S Q N S V V I I R G A T G C G K T T Q p.420
. . . . . . g.25869
GTTCCCCAGTTCATTCTAGATGACTTTATCCAGAATGACCGAGCAGCAGAGTGTAACATC c.1320
V P Q F I L D D F I Q N D R A A E C N I p.440
. | 13 . . . . . g.32188
GTAGTAACTCAG | CCCAGAAGAATCAGTGCGGTTTCTGTGGCAGAGCGAGTTGCATTTGAA c.1380
V V T Q | P R R I S A V S V A E R V A F E p.460
. . . . . . g.32248
AGAGGAGAAGAGCCTGGAAAAAGCTGTGGCTACAGCGTTCGATTTGAGTCTATACTTCCT c.1440
R G E E P G K S C G Y S V R F E S I L P p.480
. . . | 14 . . . g.32683
CGTCCTCATGCCAGTATAATGTTTTGTACTGTAG | GTGTGCTCCTGAGAAAATTAGAAGCA c.1500
R P H A S I M F C T V G | V L L R K L E A p.500
. . . . . | 15. g.38036
GGCATTCGAGGAATCAGTCATGTAATTGTAGATGAAATACATGAAAGAGATATTAAT | ACT c.1560
G I R G I S H V I V D E I H E R D I N | T p.520
. . . . . . g.38096
GACTTCCTTTTGGTAGTACTGCGTGATGTTGTTCAGGCTTATCCTGAAGTTCGCATTGTT c.1620
D F L L V V L R D V V Q A Y P E V R I V p.540
. . . . . . g.38156
CTTATGTCTGCTACTATTGATACCAGCATGTTTTGTGAATATTTCTTCAATTGCCCCATC c.1680
L M S A T I D T S M F C E Y F F N C P I p.560
. . . | 16 . . . g.40576
ATTGAAGTTTATGGGAGGACTTACCCAGTTCAAG | AATATTTTCTGGAAGACTGCATTCAG c.1740
I E V Y G R T Y P V Q E | Y F L E D C I Q p.580
. . . . . . g.40636
ATGACCCACTTTGTTCCTCCACCAAAAGACAAAAAGAAGAAGGATAAGGATGATGATGGT c.1800
M T H F V P P P K D K K K K D K D D D G p.600
. | 17 . . . . . g.41791
GGTGAGGATGATGAT | GCAAATTGCAACTTGATCTGTGGTGATGAATATGGTCCAGAAACA c.1860
G E D D D | A N C N L I C G D E Y G P E T p.620
. . . . . . g.41851
AGGTTGAGCATGTCTCAATTGAACGAAAAGGAAACTCCTTTTGAACTCATCGAGGCTCTA c.1920
R L S M S Q L N E K E T P F E L I E A L p.640
. . . . . . g.41911
CTTAAGTACATTGAAACCCTTAATGTTCCTGGAGCTGTGTTGGTTTTTTTGCCTGGCTGG c.1980
L K Y I E T L N V P G A V L V F L P G W p.660
. . . . | 18 . g.42154
AATCTGATTTATACTATGCAGAAGCATTTGGAAATGAATCCACATTTTG | GAAGCCATCGG c.2040
N L I Y T M Q K H L E M N P H F G | S H R p.680
. . . . . . g.42214
TATCAGATTCTACCCCTGCATTCTCAGATTCCTCGAGAGGAACAGCGCAAAGTGTTTGAT c.2100
Y Q I L P L H S Q I P R E E Q R K V F D p.700
. . | 19 . . . . g.42562
CCAGTACCAGTTGGAGTAACCAAG | GTTATTTTGTCCACAAATATTGCTGAAACAAGCATT c.2160
P V P V G V T K | V I L S T N I A E T S I p.720
. . . | 20 . . g.43739
ACCATAAACGATGTTGTTTATGTCATTGACTCCTGCAA | GCAGAAAGTGAAACTCTTCACT c.2220
T I N D V V Y V I D S C K | Q K V K L F T p.740
. . . . . . g.43799
GCTCACAACAATATGACCAACTATGCTACCGTATGGGCATCAAAAACAAACCTTGAGCAA c.2280
A H N N M T N Y A T V W A S K T N L E Q p.760
. . . . . . g.43859
CGGAAAGGGCGAGCTGGCCGAGTACGGCCTGGATTCTGCTTTCACCTGTGCAGCCGAGCT c.2340
R K G R A G R V R P G F C F H L C S R A p.780
. | 21 . . . . . g.44995
CGTTTTGAGAG | ACTTGAAACCCACATGACACCAGAGATGTTCCGAACACCATTGCATGAA c.2400
R F E R | L E T H M T P E M F R T P L H E p.800
. . . . . . g.45055
ATTGCTCTTAGCATAAAACTTCTGCGTCTAGGAGGAATTGGCCAATTTCTGGCCAAAGCA c.2460
I A L S I K L L R L G G I G Q F L A K A p.820
. . . . . | 22 . g.46201
ATTGAACCTCCCCCTTTGGATGCTGTGATTGAAGCAGAACACACTCTTAGAG | AGCTTGAT c.2520
I E P P P L D A V I E A E H T L R E | L D p.840
. . . . . . g.46261
GCATTAGATGCCAATGATGAGTTGACTCCTTTGGGACGAATCCTGGCTAAACTCCCCATT c.2580
A L D A N D E L T P L G R I L A K L P I p.860
. . . . | 23 . . g.46976
GAGCCTCGTTTTGGCAAAATGATGATAATGGGGTGTATTTTCTA | CGTGGGAGATGCTATC c.2640
E P R F G K M M I M G C I F Y | V G D A I p.880
. . . . . . g.47036
TGTACCATTGCTGCTGCTACCTGCTTTCCAGAGCCTTTCATCAATGAAGGAAAGCGGCTG c.2700
C T I A A A T C F P E P F I N E G K R L p.900
. . . . . . g.47096
GGCTATATCCATCGAAATTTTGCTGGAAACAGATTTTCTGATCACGTAGCCCTTTTATCA c.2760
G Y I H R N F A G N R F S D H V A L L S p.920
. . | 24 . . . . g.47250
GTATTCCAAGCCTGGGATGATGCTAG | AATGGGTGGAGAAGAAGCAGAGATACGTTTTTGT c.2820
V F Q A W D D A R | M G G E E A E I R F C p.940
. . . . . . g.47310
GAGCACAAAAGACTTAATATGGCTACACTAAGAATGACTTGGGAAGCCAAAGTTCAGCTC c.2880
E H K R L N M A T L R M T W E A K V Q L p.960
. . . | 25 . . . g.48861
AAAGAGATTTTGATTAATTCTGGGTTTCCAGAAG | ATTGTTTGTTGACACAAGTGTTTACT c.2940
K E I L I N S G F P E D | C L L T Q V F T p.980
. . . . . . g.48921
AACACTGGACCAGATAATAATTTGGATGTTGTTATCTCCCTCCTGGCCTTTGGTGTGTAC c.3000
N T G P D N N L D V V I S L L A F G V Y p.1000
. . . . . . g.48981
CCCAATGTATGCTATCATAAGGAAAAGAGGAAGATTCTCACCACTGAAGGGCGTAATGCA c.3060
P N V C Y H K E K R K I L T T E G R N A p.1020
. . . . . . g.49041
CTTATCCACAAATCATCTGTTAATTGTCCTTTTAGTAGCCAAGACATGAAGTACCCATCT c.3120
L I H K S S V N C P F S S Q D M K Y P S p.1040
. . | 26 . . . . g.49252
CCCTTCTTTGTATTTGGTGAAAAG | ATTCGAACTCGAGCCATCTCTGCTAAAGGCATGACT c.3180
P F F V F G E K | I R T R A I S A K G M T p.1060
. . . . . . g.49312
TTAGTCACCCCCCTGCAGTTGCTTCTCTTTGCCTCCAAGAAAGTCCAATCTGATGGGCAG c.3240
L V T P L Q L L L F A S K K V Q S D G Q p.1080
. . | 27 . . . . g.50349
ATTGTGCTTGTAGATGACTG | GATTAAACTGCAAATATCTCATGAAGCTGCTGCCTGTATC c.3300
I V L V D D W | I K L Q I S H E A A A C I p.1100
. . . . . . g.50409
ACTGGTCTCCGGGCAGCCATGGAGGCTTTGGTTGTTGAAGTAACCAAACAACCTGCTATC c.3360
T G L R A A M E A L V V E V T K Q P A I p.1120
. . . . . . g.50469
ATCAGCCAGTTGGACCCCGTAAATGAACGTATGCTGAACATGATCCGTCAGATCTCTAGA c.3420
I S Q L D P V N E R M L N M I R Q I S R p.1140
. . . . | 28 . . g.52798
CCCTCAGCTGCTGGTATCAACCTTATGATTGGCAGTACACG | GTATGGAGATGGTCCACGT c.3480
P S A A G I N L M I G S T R | Y G D G P R p.1160
. . . . . . g.52858
CCTCCCAAGATGGCCCGATACGACAATGGAAGCGGATATAGAAGGGGAGGTTCTAGTTAC c.3540
P P K M A R Y D N G S G Y R R G G S S Y p.1180
. . . . . . g.52918
AGTGGTGGAGGCTATGGCGGTGGCTATAGCAGTGGAGGCTATGGTAGCGGAGGCTATGGT c.3600
S G G G Y G G G Y S S G G Y G S G G Y G p.1200
. . . . . . g.52978
GGCAGCGCCAACTCCTTTCGGGCAGGATATGGTGCAGGTGTTGGTGGAGGCTATAGAGGA c.3660
G S A N S F R A G Y G A G V G G G Y R G p.1220
. . . . . . g.53038
GTTTCCCGAGGTGGCTTTAGAGGCAACTCTGGAGGAGACTACAGAGGGCCTAGTGGAGGC c.3720
V S R G G F R G N S G G D Y R G P S G G p.1240
. . . . . . g.53098
TACAGAGGATCTGGGGGATTCCAGCGAGGAGGTGGTAGGGGGGCCTATGGAACTGGCTAC c.3780
Y R G S G G F Q R G G G R G A Y G T G Y p.1260
. . . g.53131
TTTGGACAGGGAAGAGGAGGTGGCGGCTATTAA c.3813
F G Q G R G G G G Y X p.1270
. . . . . . g.53191
aacttggttatgtcagttcctgtgtgtagacagtaaggaaaaaaaggcatgctatgtgtt c.*60
. . . . . . g.53251
acgtgttttttccagtatgtttatttgccaccaaaaagtaaatgcattttcacccattct c.*120
. . . . . . g.53311
gtggttcattgtagtttaaggaaaccaagcatatagatgcattagtgattttgtttatat c.*180
. . . . . . g.53371
tatgtaaaatataacgatctcttaaaaataccacagtttgtattttttctttaaggagta c.*240
. . . . . . g.53431
aagatttgcctttaaataacttggtattttcctggctttcgtttaatacaatagaaaata c.*300
. . . . . . g.53491
aagtattacaccgaatacttgccgtgtagtttgtttgttgacctcgtatgttagaaaatt c.*360
. . . . . . g.53551
ttacaatgccagctacatctgttgattttaaatgtcagagaagttgtaccctgtttcaaa c.*420
. . . . . . g.53611
agtatactaagtgatactacttgtaatagaataaatcatcttggaattgaattgttacct c.*480
. . . . . . g.53671
tttgaagtaaatactggcaagtgcacaagccacataaacctgaataaaacttttgaccta c.*540
g.53679
gggttgaa c.*548
(downstream sequence)
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