(used for variant description)
(last modified November 4, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_152709.4 in the STOX1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering STOX1 transcript NM_152709.4.
(upstream sequence)
. . g.5027
ggccgatcctcccgccgagcgagcggc c.-61
. . . . . . g.5087
gtcgtagccgccgcgctcgccgaggccctgcgttgcgggctcccggccgccggcgaaagc c.-1
. . . . . . g.5147
ATGGCCCGGCCCGTGCAGCTGGCGCCGGGCTCGCTGGCGCTAGTGCTGTGCCGGCTGGAG c.60
M A R P V Q L A P G S L A L V L C R L E p.20
. . . . . . g.5207
GCGCAGAAGGCGGCGGGGGCCGCGGAGGAGCCTGGTGGGCGCGCGGTGTTCCGCGCTTTC c.120
A Q K A A G A A E E P G G R A V F R A F p.40
. . . . . . g.5267
CGTCGCGCCAACGCGCGCTGCTTCTGGAACGCGCGGCTGGCGCGCGCCGCCTCGCGGCTG c.180
R R A N A R C F W N A R L A R A A S R L p.60
. . . . . . g.5327
GCCTTCCAGGGCTGGCTGCGGCGGGGGGTGCTGCTGGTGCGCGCGCCCCCCGCCTGCCTG c.240
A F Q G W L R R G V L L V R A P P A C L p.80
. . . . . . g.5387
CAGGTGCTGCGCGATGCCTGGCGGCGCCGGGCCCTGCGGCCGCCGCGCGGCTTCCGCATC c.300
Q V L R D A W R R R A L R P P R G F R I p.100
. | 02 . . . . . g.59470
AGGGCGGTGG | GTGATGTCTTTCCAGTGCAAATGAATCCAATAACTCAATCTCAGTTCGTA c.360
R A V G | D V F P V Q M N P I T Q S Q F V p.120
. . . . . . g.59530
CCTTTGGGTGAAGTTCTTTGCTGTGCTATATCTGATATGAATACAGCTCAGATTGTAGTA c.420
P L G E V L C C A I S D M N T A Q I V V p.140
. . . . | 03 . . g.61739
ACGCAGGAATCACTTTTGGAGCGTTTGATGAAACATTACCCAG | GCATTGCAATTCCATCG c.480
T Q E S L L E R L M K H Y P G | I A I P S p.160
. . . . . . g.61799
GAAGATATTCTTTATACCACTCTGGGAACGCTGATTAAAGAAAGGAAGATTTATCACACT c.540
E D I L Y T T L G T L I K E R K I Y H T p.180
. . . . . . g.61859
GGAGAAGGATACTTCATAGTTACTCCTCAGACTTACTTCATTACAAATACAACCACCCAG c.600
G E G Y F I V T P Q T Y F I T N T T T Q p.200
. . . . . . g.61919
GAAAATAAGAGAATGCTGCCATCAGATGAAAGTCGCCTGATGCCAGCTTCCATGACATAT c.660
E N K R M L P S D E S R L M P A S M T Y p.220
. . . . . . g.61979
CTGGTGAGCATGGAGAGCTGTGCAGAGTCAGCCCAAGAGAATGCTGCCCCCATATCCCAC c.720
L V S M E S C A E S A Q E N A A P I S H p.240
. . . . . . g.62039
TGTCAGTCTTGCCAGTGTTTCCGGGACATGCACACTCAGGATGTTCAGGAAGCACCAGTT c.780
C Q S C Q C F R D M H T Q D V Q E A P V p.260
. . . . . . g.62099
GCTGCAGAAGTGACTAGGAAGAGTCACAGAGGTCTTGGGGAATCCGTATCTTGGGTACAG c.840
A A E V T R K S H R G L G E S V S W V Q p.280
. . . . . . g.62159
AATGGGGCAGTTTCAGTGTCTGCGGAGCACCACATTTGTGAGAGCACCAAACCTTTACCA c.900
N G A V S V S A E H H I C E S T K P L P p.300
. . . . . . g.62219
TACACAAGAGATAAAGAAAAAGGCAAGAAGTTTGGTTTTAGTCTCTTATGGCGCAGCTTA c.960
Y T R D K E K G K K F G F S L L W R S L p.320
. . . . . . g.62279
TCTAGAAAGGAGAAGCCCAAAACAGAACACAGCAGTTTCTCTGCTCAGTTCCCACCTGAA c.1020
S R K E K P K T E H S S F S A Q F P P E p.340
. . . . . . g.62339
GAATGGCCCGTCCGAGATGAAGATGACTTGGACAATATCCCTCGAGATGTTGAACATGAG c.1080
E W P V R D E D D L D N I P R D V E H E p.360
. . . . . . g.62399
ATAATCAAACGAATTAACCCCATTTTGACTGTTGACAATTTAATCAAACACACTGTCCTA c.1140
I I K R I N P I L T V D N L I K H T V L p.380
. . . . . . g.62459
ATGCAAAAATACGAAGAACAGAAAAAATATAATAGCCAGGGCACTTCCACTGACATGCTG c.1200
M Q K Y E E Q K K Y N S Q G T S T D M L p.400
. . . . . . g.62519
ACAATCGGGCATAAGTATCCTTCAAAAGAGGGGGTTAAGAAAAGGCAGGGTCTGTCTGCA c.1260
T I G H K Y P S K E G V K K R Q G L S A p.420
. . . . . . g.62579
AAACCTCAAGGGCAGGGCCATTCTCGAAGGGATAGACACAAAGCCAGGAATCAGGGAAGT c.1320
K P Q G Q G H S R R D R H K A R N Q G S p.440
. . . . . . g.62639
GAGTTTCAGCCAGGAAGCATTAGACTGGAGAAACACCCCAAGCTCCCTGCTACACAGCCC c.1380
E F Q P G S I R L E K H P K L P A T Q P p.460
. . . . . . g.62699
ATCCCCAGAATTAAAAGCCCAAATGAAATGGTAGGTCAGAAACCACTTGGTGAGATTACA c.1440
I P R I K S P N E M V G Q K P L G E I T p.480
. . . . . . g.62759
ACAGTGCTAGGTTCCCATTTGATTTACAAAAAGCGAATCAGTAATCCTTTCCAGGGTTTG c.1500
T V L G S H L I Y K K R I S N P F Q G L p.500
. . . . . . g.62819
TCTCACCGAGGAAGCACAATATCCAAAGGGCACAAAATTCAGAAGACGAGTGATCTGAAA c.1560
S H R G S T I S K G H K I Q K T S D L K p.520
. . . . . . g.62879
CCCAGCCAGACTGGACCAAAGGAAAAGCCTTTCCAAAAGCCTAGGTCCTTGGATTCCTCA c.1620
P S Q T G P K E K P F Q K P R S L D S S p.540
. . . . . . g.62939
AGAATCTTTGATGGTAAAGCCAAAGAGCCATATGCTGAACAACCTAATGATAAAATGGAA c.1680
R I F D G K A K E P Y A E Q P N D K M E p.560
. . . . . . g.62999
GCAGAATCCATTTACATAAATGACCCTACTGTCAAACCCATCAATGATGACTTCAGAGGT c.1740
A E S I Y I N D P T V K P I N D D F R G p.580
. . . . . . g.63059
CACCTCTTCAGTCACCCTCAACAGAGCATGTTGCAAAATGATGGTAAATGCTGTCCCTTT c.1800
H L F S H P Q Q S M L Q N D G K C C P F p.600
. . . . . . g.63119
ATGGAAAGCATGTTGAGATATGAAGTGTATGGTGGAGAAAATGAGGTAATTCCTGAAGTC c.1860
M E S M L R Y E V Y G G E N E V I P E V p.620
. . . . . . g.63179
TTGAGGAAAAGTCATTCCCACTTTGACAAATTAGGGGAGACCAAACAGACTCCGCATAGT c.1920
L R K S H S H F D K L G E T K Q T P H S p.640
. . . . . . g.63239
CTGCCATCACGAGGTGCCTCCTTTTCAGACCGAACACCCTCTGCTTGTAGATTAGTGGAT c.1980
L P S R G A S F S D R T P S A C R L V D p.660
. . . . . . g.63299
AACACAATACACCAGTTTCAAAATCTTGGCCTTTTGGATTACCCAGTTGGCGTGAACCCT c.2040
N T I H Q F Q N L G L L D Y P V G V N P p.680
. . . . . . g.63359
TTAAGACAAGCTGCAAGACAAGACAAAGACTCAGAAGAATTATTGAGAAAAGGATTTGTC c.2100
L R Q A A R Q D K D S E E L L R K G F V p.700
. . . . . . g.63419
CAGGATGCAGAGACTACAAGCCTAGAAAATGAACAGCTTTCTAACGATGACCAGGCCTTG c.2160
Q D A E T T S L E N E Q L S N D D Q A L p.720
. . . . . . g.63479
TATCAGAATGAAGTGGAAGATGATGATGGTGCCTGTAGTTCATTATATCTAGAGGAGGAT c.2220
Y Q N E V E D D D G A C S S L Y L E E D p.740
. . . . . . g.63539
GACATTTCTGAGAATGACGACTTACGTCAAATGCTGCCTGGCCACAGTCAGTATTCCTTC c.2280
D I S E N D D L R Q M L P G H S Q Y S F p.760
. . . . . . g.63599
ACAGGTGGAAGCCAGGGAAATCATTTAGGAAAACAAAAAGTGATTGAGAGATCTCTGACC c.2340
T G G S Q G N H L G K Q K V I E R S L T p.780
. . . . . . g.63659
GAGTACAACAGCACAATGGAGAGGGTTGAGTCTCAGGTGCTTAAAAGAAATGAATGCTAC c.2400
E Y N S T M E R V E S Q V L K R N E C Y p.800
. . . . . . g.63719
AAACCCACTGGGCTGCATGCTACCCCAGGTGAAAGCCAAGAACCTAACCTCTCTGCTGAA c.2460
K P T G L H A T P G E S Q E P N L S A E p.820
. . . . . . g.63779
AGTTGTGGCCTAAATTCAGGGGCCCAGTTTGGTTTTAACTACGAAGAAGAACCCAGTGTT c.2520
S C G L N S G A Q F G F N Y E E E P S V p.840
. . . . . . g.63839
GCTAAATGTGTACAGGCCTCAGCACCTGCTGATGAAAGAATCTTTGATTACTATAGCGCA c.2580
A K C V Q A S A P A D E R I F D Y Y S A p.860
. . . . . . g.63899
AGAAAAGCCAGTTTTGAAGCTGAAGTCATACAAGACACTATTGGTGACACAGGAAAGAAG c.2640
R K A S F E A E V I Q D T I G D T G K K p.880
. . . . . . g.63959
CCAGCTAGCTGGAGTCAGAGTCCTCAGAATCAGGAAATGAGAAAACATTTCCCACAAAAG c.2700
P A S W S Q S P Q N Q E M R K H F P Q K p.900
. . . . . . g.64019
TTCCAACTTTTCAACACTTCACATATGCCAGTGTTGGCTCAGGATGTCCAATATGAACAC c.2760
F Q L F N T S H M P V L A Q D V Q Y E H p.920
. . . . . . g.64079
AGTCACTTGGAAGGGACAGAAAATCACAGCATGGCAGGAGATAGTGGAATAGATTCTCCA c.2820
S H L E G T E N H S M A G D S G I D S P p.940
| 04 . . . . . . g.70109
CG | GACACAGAGTCTGGGATCTAATAATTCAGTCATTTTGGATGGACTAAAAAGAAGACAG c.2880
R | T Q S L G S N N S V I L D G L K R R Q p.960
. . . . . . g.70169
AATTTTCTGCAAAATGTCGAAGGCACAAAGAGCAGTCAACCACTCACATCTAATTCCTTA c.2940
N F L Q N V E G T K S S Q P L T S N S L p.980
. . . g.70199
CTACCGCTAACTCCAGTCATAAACGTTTAA c.2970
L P L T P V I N V X p.989
. . . . . . g.70259
ttttcttttggaaacctacttttttctttataaaaaggtagagcattattacagaatctt c.*60
. . . . . . g.70319
tcaatcatgtaagaattgagtatataagaattgtctaaaggcaagcatatctatactatt c.*120
. . . . . . g.70379
aaccacattacacattttgttctaattactggctttttttcctcttttggtgtcttaagg c.*180
. . . . . . g.70439
ctttttgaagcttattttactgtgagtttattgggagtatatagattattttcgattaaa c.*240
. . . . . . g.70499
aagtggaattattggtccccttccaattgtaattatcttgaatttttatacattagtttc c.*300
. . g.70523
tcaaatatatagaatgccaattta c.*324
(downstream sequence)
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