(used for variant description)
(last modified October 14, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_003602.4 in the FKBP6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering FKBP6 transcript NM_003602.4.
(upstream sequence)
. g.5097
tcgcgagggccagggcc c.-181
. . . . . . g.5157
gttggcggcggttggaacgaaacgatgagtgcctcctcgtggccccagaatggaatgccg c.-121
. . . . . . g.5217
ccgtcggtaggggtctgccgggcataaaggggccttcggaaccccaccagagtcacagcc c.-61
. . . . . . g.5277
agggagggcagcggggcgcaccaggccgaaggctcacgccacagggagggcagctaggac c.-1
. . . . . | 02. g.5426
ATGGGGGGAAGCGCGTTAAACCAGGGAGTCCTGGAAGGGGACGACGCCCCCGGCCAG | TCC c.60
M G G S A L N Q G V L E G D D A P G Q | S p.20
. . . . . . g.5486
CTGTACGAGCGGTTAAGTCAGAGGATGCTGGACATCTCGGGGGACCGGGGCGTGCTGAAG c.120
L Y E R L S Q R M L D I S G D R G V L K p.40
. . . . . | 03 . g.6213
GACGTCATCCGAGAAGGAGCTGGAGACCTAGTGGCGCCTGATGCTTCGGTGCTAG | TGAAA c.180
D V I R E G A G D L V A P D A S V L V | K p.60
. . . . . . g.6273
TACTCGGGATACCTGGAACACATGGACAGACCCTTCGATTCTAATTACTTTAGGAAAACT c.240
Y S G Y L E H M D R P F D S N Y F R K T p.80
. . | 04 . . . . g.7033
CCTCGGCTAATGAAACTTGGAGAGG | ATATTACACTGTGGGGCATGGAGCTGGGCCTTCTG c.300
P R L M K L G E D | I T L W G M E L G L L p.100
. . . . . . g.7093
AGCATGCGGAGAGGAGAGCTGGCCAGGTTTCTGTTCAAACCGAACTACGCCTATGGAACG c.360
S M R R G E L A R F L F K P N Y A Y G T p.120
. . . . . . g.7153
CTGGGCTGCCCTCCCTTGATCCCCCCAAACACCACTGTCCTGTTTGAGATTGAGCTGCTT c.420
L G C P P L I P P N T T V L F E I E L L p.140
. . . . | 05 . g.8517
GACTTCCTGGACTGTGCTGAGTCAGACAAGTTTTGTGCTCTCTCAGCT | GAGCAGCAAGAC c.480
D F L D C A E S D K F C A L S A | E Q Q D p.160
. . . . . . g.8577
CAATTTCCACTTCAGAAGGTCCTGAAAGTGGCAGCTACGGAACGGGAGTTTGGCAACTAC c.540
Q F P L Q K V L K V A A T E R E F G N Y p.180
. . . . | 06 . g.17497
CTTTTCCGCCAGAATCGTTTCTATGATGCCAAAGTGAGATATAAAAGG | GCCCTGTTGCTT c.600
L F R Q N R F Y D A K V R Y K R | A L L L p.200
. . . . . . g.17557
CTGCGCCGGCGATCAGCACCCCCTGAAGAGCAGCACCTGGTGGAGGCCGCCAAGCTTCCT c.660
L R R R S A P P E E Q H L V E A A K L P p.220
. . . . . . g.17617
GTTCTCCTGAACCTGTCCTTTACATACCTGAAGCTAGACCGACCCACCATAGCCCTGTGC c.720
V L L N L S F T Y L K L D R P T I A L C p.240
. . . . . . g.17677
TATGGAGAGCAGGCTTTGATCATTGACCAAAAGAATGCCAAGGCCCTCTTCAGGTGTGGA c.780
Y G E Q A L I I D Q K N A K A L F R C G p.260
| 07 . . . . . . g.18174
CAG | GCTTGTCTTCTCCTGACTGAGTATCAAAAGGCCCGGGATTTTCTAGTTCGAGCCCAG c.840
Q | A C L L L T E Y Q K A R D F L V R A Q p.280
. . . . . | 08 . g.19659
AAGGAGCAACCCTTCAATCATGACATCAATAATGAGCTGAAGAAACTGGCTAG | CTGTTAC c.900
K E Q P F N H D I N N E L K K L A S | C Y p.300
. . . . . . g.19719
AGGGACTATGTGGATAAAGAGAAAGAAATGTGGCACCGCATGTTCGCGCCCTGTGGCGAT c.960
R D Y V D K E K E M W H R M F A P C G D p.320
. . g.19743
GGTTCTACAGCAGGAGAAAGTTGA | c.985
G S T A G E S X p.327
| 09 . . . . . . g.35093
ag | gttcttcacctaccaacgaggggagagagctgtggttctccatcattgggggagtgga c.*60
. . . . . . g.35153
agggagctcccagcgcagccgtggcagccaccttccaggagcaggggctggaatgtcctg c.*120
. . . . . . g.35213
tggccgcatctctcatggacgcggctgaaacgtgttttcacaggtgctgttttctgtttt c.*180
. . . . . . g.35273
ccgtgttcgtaacagaagggaggggaaagcgcagctactgacaagtagaacactgctact c.*240
. . . . . . g.35333
ttttttaaggcagtttcttgtttttttagacggaattagtccttggcttccctcccagtc c.*300
. . . . . . g.35393
ccagccctgcttccggctgcgaatgtccctgagtcaacaccaatagagattgctttgtgt c.*360
. . . . . . g.35453
attttgtagggttctctgttttgaagacagaattatgttacaaatgtttttgttgtaaat c.*420
. . . g.35492
aaataaaacacttccttgtccttgcaagatccagtataa c.*459
(downstream sequence)
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