(used for variant description)
(last modified November 28, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_016373.2 in the WWOX gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering WWOX transcript NM_016373.2.
(upstream sequence)
. . . . g.5049
gatgcgcacgccccttccctgcggcggggaggctgacaaggctccgctc c.-301
. . . . . . g.5109
tatctctagcgcctcggagcgctctccggctttgctgtctagcccggcggcagcgcgatc c.-241
. . . . . . g.5169
tcttaggcactttcaccgccttcctctccaggccctgcccctttgacgccggccgtcgcg c.-181
. . . . . . g.5229
atattgcggagactggatttcagcttcgtggtcggcggagcggcccctggagggcgcagt c.-121
. . . . . . g.5289
gcgcaggcgtgagcggtcgggccccgacgcgcgcgggtctcgtttggagcgggagtgagt c.-61
. . . . . . g.5349
tcctgagcgagtggacccggcagcgggcgataggggggccaggtgcctccacagtcagcc c.-1
. . . . . . g.5409
ATGGCAGCGCTGCGCTACGCGGGGCTGGACGACACGGACAGTGAGGACGAGCTGCCTCCG c.60
M A A L R Y A G L D D T D S E D E L P P p.20
. . . . | 02. . g.14006
GGCTGGGAGGAGAGAACCACCAAGGACGGCTGGGTTTACTACGCCAA | TCACACCGAGGAG c.120
G W E E R T T K D G W V Y Y A N | H T E E p.40
. . . . . | 03 . g.15356
AAGACTCAGTGGGAACATCCAAAAACTGGAAAAAGAAAACGAGTGGCAGGAG | ATTTGCCA c.180
K T Q W E H P K T G K R K R V A G D | L P p.60
. . . . . | 04 . g.20556
TACGGATGGGAACAAGAAACTGATGAGAACGGACAAGTGTTTTTTGTTGA | CCATATAAAT c.240
Y G W E Q E T D E N G Q V F F V D | H I N p.80
. . . . . . g.20616
AAAAGAACCACCTACTTGGACCCAAGACTGGCGTTTACTGTGGATGATAATCCGACCAAG c.300
K R T T Y L D P R L A F T V D D N P T K p.100
. . . . . . g.20676
CCAACCACCCGGCAAAGATACGACGGCAGCACCACTGCCATGGAAATTCTCCAGGGCCGG c.360
P T T R Q R Y D G S T T A M E I L Q G R p.120
. . . . | 05 . g.69764
GATTTCACTGGCAAAGTGGTTGTGGTCACTGGAGCTAATTCAGGAATAG | GGTTCGAAACC c.420
D F T G K V V V V T G A N S G I G | F E T p.140
. . . . . . g.69824
GCCAAGTCTTTTGCCCTCCATGGTGCACATGTGATCTTGGCCTGCAGGAACATGGCAAGG c.480
A K S F A L H G A H V I L A C R N M A R p.160
. . . | 06 . . . g.292454
GCGAGTGAAGCAGTGTCACGCATTTTAGAAGAATGG | CATAAAGCCAAGGTAGAAGCAATG c.540
A S E A V S R I L E E W | H K A K V E A M p.180
. . . . . . g.292514
ACCCTGGACCTCGCTCTGCTCCGTAGCGTGCAGCATTTTGCTGAAGCATTCAAGGCCAAG c.600
T L D L A L L R S V Q H F A E A F K A K p.200
| 07 . . . . . . g.330495
AATGT | GCCTCTTCATGTGCTTGTGTGCAACGCAGCAACTTTTGCTCTACCCTGGAGTCTC c.660
N V | P L H V L V C N A A T F A L P W S L p.220
. . . . . . g.330555
ACCAAAGATGGCCTGGAGACCACCTTTCAAGTGAATCATCTGGGGCACTTCTACCTTGTC c.720
T K D G L E T T F Q V N H L G H F Y L V p.240
. . . . . . g.330615
CAGCTCCTCCAGGATGTTTTGTGCCGCTCAGCTCCTGCCCGTGTCATTGTGGTCTCCTCA c.780
Q L L Q D V L C R S A P A R V I V V S S p.260
. | 08 . . . . . g.338107
GAGTCCCATCG | ATTTACAGATATTAACGACTCCTTGGGAAAACTGGACTTCAGTCGCCTC c.840
E S H R | F T D I N D S L G K L D F S R L p.280
. . . . . . g.338167
TCTCCAACAAAAAACGACTATTGGGCGATGCTGGCTTATAACAGGTCCAAGCTCTGCAAC c.900
S P T K N D Y W A M L A Y N R S K L C N p.300
. . . . . . g.338227
ATCCTCTTCTCCAACGAGCTGCACCGTCGCCTCTCCCCACGCGGGGTCACGTCGAACGCA c.960
I L F S N E L H R R L S P R G V T S N A p.320
. . . . . . g.338287
GTGCATCCTGGAAATATGATGTACTCCAACATTCATCGCAGCTGGTGGGTGTACACACTG c.1020
V H P G N M M Y S N I H R S W W V Y T L p.340
. . . | 09 . . . g.1117202
CTGTTTACCTTGGCGAGGCCTTTCACCAAGTCCATG | CAACAGGGAGCTGCCACCACCGTG c.1080
L F T L A R P F T K S M | Q Q G A A T T V p.360
. . . . . . g.1117262
TACTGTGCTGCTGTCCCAGAACTGGAGGGTCTGGGAGGGATGTACTTCAACAACTGCTGC c.1140
Y C A A V P E L E G L G G M Y F N N C C p.380
. . . . . . g.1117322
CGCTGCATGCCCTCACCAGAAGCTCAGAGCGAAGAGACGGCCCGGACCCTGTGGGCGCTC c.1200
R C M P S P E A Q S E E T A R T L W A L p.400
. . . . g.1117367
AGCGAGAGGCTGATCCAAGAACGGCTTGGCAGCCAGTCCGGCTAA c.1245
S E R L I Q E R L G S Q S G X p.414
. . . . . . g.1117427
gtggagctcagagcggatgggcacacacacccgccctgtgtgtgtcccctcacgcaagtg c.*60
. . . . . . g.1117487
ccagggctgggccccttccaaatgtccctccaacacagatccgcaagagtaaaggaaata c.*120
. . . . . . g.1117547
agagcagtcacaacagagtgaaaaatcttaagtaccaatgggaagcagggaattcctggg c.*180
. . . . . . g.1117607
gtaaagtatcacttttctggggctgggctaggcataggtctctttgctttctggtggtgg c.*240
. . . . . . g.1117667
cctgtttgaaagtaaaaacctgcttggtgtgtaggttccgtatctccctggagaagcacc c.*300
. . . . . . g.1117727
agcaattctctttcttttactgttatagaatagcctgaggtcccctcgtcccatccagct c.*360
. . . . . . g.1117787
accaccacggccaccactgcagccgggggctggccttctcctacttagggaagaaaaagc c.*420
. . . . . . g.1117847
aagtgttcactgctccttgctgcattgatccaggagataattgtttcattcatcctgacc c.*480
. . . . . . g.1117907
aagactgagccagcttagcaactgctggggagacaaatctcagaaccttgtcccagccag c.*540
. . . . . . g.1117967
tgaggatgacagtgacacccagagggagtagaatacgcagaactaccaggtggcaaagta c.*600
. . . . . . g.1118027
cttgtcatagactcctttgctaatgctatgcaaaaaattctttagagattataacaaatt c.*660
. . . . . . g.1118087
tttcaaatcattccttagataccttgaaaggcaggaagggaagcgtatatacttaagaat c.*720
. . . . . . g.1118147
acacaggatattttggggggcagagaataaaacgttagttaatccctttgtctgtcaatc c.*780
. . . . . . g.1118207
acagtctcagttctcttgctttcacattgtacttaaacctcctgctgtgcctcgcatcct c.*840
. . . g.1118238
atgcttaataaaagaacatgcttgaatatca c.*871
(downstream sequence)
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