(used for variant description)
(last modified December 8, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_007187.3 in the WBP4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000013.10, covering WBP4 transcript NM_007187.3.
(upstream sequence)
. . . . . g.5053
tcggagggaggttcgggtgggcatcgggcggctggaagagctcgactcgtccc c.-61
. . . . . . g.5113
gctgggaaagcgcgagtctgagtggaaccctggacgacttgcagagcggctggcgcagtc c.-1
| 02 . . . . . . g.6141
AT | GGCGGACTACTGGAAGTCACAGCCAAAGAAATTCTGTGATTACTGCAAGTGCTGGATA c.60
M | A D Y W K S Q P K K F C D Y C K C W I p.20
. | 03 . . . . . g.8500
GCAGACAATAGGCCT | AGTGTTGAATTTCATGAAAGAGGAAAGAATCATAAGGAAAATGTG c.120
A D N R P | S V E F H E R G K N H K E N V p.40
. | 04 . . . . g.8645
GCAAAAAGGATCAGTGAG | ATTAAACAGAAAAGCCTGGATAAGGCAAAGGAAGAAGAAAAG c.180
A K R I S E | I K Q K S L D K A K E E E K p.60
. . . . . . g.8705
GCATCAAAGGAGTTTGCTGCAATGGAGGCAGCTGCCCTGAAAGCATACCAAGAGGATTTG c.240
A S K E F A A M E A A A L K A Y Q E D L p.80
. . | 05 . . . . g.12038
AAAAGACTTGGCTTAGAGTCAG | AAATTTTGGAGCCAAGCATAACACCAGTAACCAGCACT c.300
K R L G L E S E | I L E P S I T P V T S T p.100
. . . . . . g.12098
ATCCCACCTACCTCGACATCAAATCAACAGAAAGAAAAGAAAGAAAAGAAGAAAAGAAAA c.360
I P P T S T S N Q Q K E K K E K K K R K p.120
. . . . . . g.12158
AAAGATCCTTCAAAGGGCAGATGGGTAGAAGGCATAACCTCTGAGGGTTACCATTACTAT c.420
K D P S K G R W V E G I T S E G Y H Y Y p.140
. | 06 . . . . g.15007
TATGATCTTATCTCAGGAG | CATCTCAGTGGGAGAAACCTGAAGGATTTCAAGGAGACTTA c.480
Y D L I S G A | S Q W E K P E G F Q G D L p.160
| 07 . . . . . . g.16275
AAAAAG | ACAGCAGTGAAGACCGTTTGGGTAGAAGGTTTAAGTGAAGATGGTTTTACCTAT c.540
K K | T A V K T V W V E G L S E D G F T Y p.180
. . | 08 . . . . g.19521
TACTATAATACAGAAACAGGAG | AATCCAGATGGGAGAAACCTGATGATTTCATTCCACAC c.600
Y Y N T E T G E | S R W E K P D D F I P H p.200
. . . . . . g.19581
ACTAGTGATCTGCCTTCTAGTAAGGTCAATGAAAATTCACTTGGCACCCTAGATGAATCC c.660
T S D L P S S K V N E N S L G T L D E S p.220
. . . . . . g.19641
AAATCATCAGATTCGCATAGTGATTCTGATGGGGAACAGGAAGCAGAAGAAGGAGGGGTC c.720
K S S D S H S D S D G E Q E A E E G G V p.240
. . . | 09 . . . g.24109
TCTACAGAGACAGAAAAGCCAAAAATAAAGTTTAAG | GAAAAAAATAAAAATAGTGATGGA c.780
S T E T E K P K I K F K | E K N K N S D G p.260
. . . . . . g.24169
GGAAGTGACCCAGAAACACAGAAAGAAAAAAGTATTCAGAAACAGAATTCATTAGGTTCA c.840
G S D P E T Q K E K S I Q K Q N S L G S p.280
. . . . . . g.24229
AATGAAGAAAAATCGAAAACTCTTAAGAAATCAAACCCATATGGAGAATGGCAAGAAATT c.900
N E E K S K T L K K S N P Y G E W Q E I p.300
. . | 10 . . . . g.26183
AAACAAGAGGTTGAGTCTCA | TGAGGAGGTAGATTTGGAACTTCCAAGCACTGAAAATGAG c.960
K Q E V E S H | E E V D L E L P S T E N E p.320
. . . . . . g.26243
TATGTATCAACTTCAGAAGCTGATGGTGGCGGAGAACCCAAAGTGGTATTTAAAGAAAAA c.1020
Y V S T S E A D G G G E P K V V F K E K p.340
. . . . . . g.26303
ACAGTCACTTCTCTTGGAGTTATGGCAGATGGAGTGGCCCCAGTCTTCAAAAAGAGAAGA c.1080
T V T S L G V M A D G V A P V F K K R R p.360
. . . . . g.26354
ACTGAAAATGGAAAATCTAGAAATTTAAGGCAACGAGGTGATGATCAATAG c.1131
T E N G K S R N L R Q R G D D Q X p.376
. . . . . . g.26414
ttgcaggagagctttttgtacatgcttttaggacagaatggagacttatacacccaaagt c.*60
. . . . . . g.26474
ttatctgtgtttgtttgtaagtattatgatgctaaaaatttagatttattctaaatgtat c.*120
. . . . . . g.26534
ttgatgtgaattaaaataaatattttttcatgtgaaatttattttggttcctaaaatgga c.*180
. . . . . . g.26594
agcctaccacattgcattgtaatacagtgtattatgttcagtgtctaaaaactgctaatt c.*240
. . . . . . g.26654
aagtcataatttaagatgctatgtatctgttatttaaaacatggagaaacagggccttta c.*300
. . . . . . g.26714
ttccattcatattcataagagcatatttatcctgcattgaaaatgcattacttttgcaca c.*360
. . . . . . g.26774
ttgatattaactgttgtccaacaaataagtatcggagtacgtgagaatattcccagccca c.*420
. . . . . . g.26834
gtgatgatttggttctgaggctgatgtgagaaagctgatgtaaaaaatgtatgcatattg c.*480
. . . . . . g.26894
gcttaccttactcaatttaaagtcaaaagccaacagccaggagcagctcaggtacttcag c.*540
. . . . . . g.26954
atgtgcttaatatggagtgaaaactggaccagaggtggaaagatgtatttgccccagttc c.*600
. . . . . . g.27014
acttcaaagcagcaaacgttgtttaagcattttagtttgaaccaggcattgtgttaggaa c.*660
. . . . . . g.27074
tccagggataaagatgaatgaaatgtatttctgttcttcaggagttcacattctagcata c.*720
. . . . . . g.27134
tgccttttttcccccagtcatgcactctttttagcagtcttatatgtactagaaaagatt c.*780
. . . . . . g.27194
ttttaaagtttatttaaagctgtgtagatgaaggcttgatctaaaatagtataaggtctc c.*840
. . . . . . g.27254
cagcttcagtaaaagtttttagtgtttacttaaattagtaatttctcactttctgtctgg c.*900
. . . . . . g.27314
ttaaaatgtcttaaaaagtagaattttcttctttaatccgtttagtagttacctcccttt c.*960
. . . . . . g.27374
tacttttcaaattcacaaaattacatttctcataaattgtatagtatttaacttataata c.*1020
. . . . . . g.27434
gttaatatttgtctttttaagatgactgtacatgtaagaaaaaagcttattaaaaacttg c.*1080
g.27443
atcaaagaa c.*1089
(downstream sequence)
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