(used for variant description)
(last modified July 19, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001039550.1 in the DNAJB2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029553.1, covering DNAJB2 transcript NM_001039550.1.
(upstream sequence)
. . . . . g.5057
cccccacccccccaggggacaggcggagccggccttctccccgtctctagtagtttc c.-181
. . . . . . g.5117
cgcaccgctgacgcatgcctgcgcgcacagctgggccgggcgcgtcctacgcagcagccg c.-121
. . . . . . g.5177
cgagccgggctgcgggtgccagacggttcccggcggggggcaggggcggggcgccgcagg c.-61
. . . | 02 . . . g.5516
aggccgggactcctggcggaggag | ccccaaggaggcccgcctgacgactgaccagttgcc c.-1
. . . . . . g.5576
ATGGCATCCTACTACGAGATCCTAGACGTGCCGCGAAGTGCGTCCGCTGATGACATCAAG c.60
M A S Y Y E I L D V P R S A S A D D I K p.20
| 03 . . . . . . g.6315
AAGGC | GTATCGGCGCAAGGCTCTCCAGTGGCACCCAGACAAAAACCCAGATAATAAAGAG c.120
K A | Y R R K A L Q W H P D K N P D N K E p.40
. . . . . | 04 . g.7405
TTTGCTGAGAAGAAATTTAAGGAGGTGGCCGAGGCATATGAAGTGCTGTCTGACA | AGCAC c.180
F A E K K F K E V A E A Y E V L S D K | H p.60
. . . . | 05 . g.7632
AAGCGGGAGATTTACGACCGCTATGGCCGGGAAGGGCTGACAGGGACAG | GAACTGGCCCA c.240
K R E I Y D R Y G R E G L T G T G | T G P p.80
. . . . . . g.7692
TCTCGGGCAGAAGCTGGCAGTGGTGGGCCTGGCTTCACCTTCACCTTCCGCAGCCCCGAG c.300
S R A E A G S G G P G F T F T F R S P E p.100
. . . . . | 06 . g.8527
GAGGTCTTCCGGGAATTCTTTGGGAGTGGAGACCCTTTTGCAGAGCTCTTTG | ATGACCTG c.360
E V F R E F F G S G D P F A E L F D | D L p.120
. . . . . . g.8587
GGCCCCTTCTCAGAGCTTCAGAACCGGGGTTCCCGACACTCAGGCCCCTTCTTTACCTTC c.420
G P F S E L Q N R G S R H S G P F F T F p.140
. . | 07 . . . . g.8850
TCTTCCTCCTTCCCTGGGCACTCCG | ATTTCTCCTCCTCATCTTTCTCCTTCAGTCCTGGG c.480
S S S F P G H S D | F S S S S F S F S P G p.160
. . . . . . g.8910
GCTGGTGCTTTTCGCTCTGTTTCTACATCTACCACCTTTGTCCAAGGACGCCGCATCACC c.540
A G A F R S V S T S T T F V Q G R R I T p.180
| 08 . . . . . g.9153
ACACGCAG | AATCATGGAGAACGGGCAGGAGCGGGTGGAAGTGGAGGAGGATGGGCAGCTG c.600
T R R | I M E N G Q E R V E V E E D G Q L p.200
. | 09 . . . . g.10355
AAGTCAGTCACAATCAATG | GTGTCCCAGATGACCTGGCACTGGGCTTGGAGCTGAGCCGT c.660
K S V T I N G | V P D D L A L G L E L S R p.220
. . . . . . g.10415
CGCGAGCAGCAGCCGTCAGTCACTTCCAGGTCTGGGGGCACTCAGGTCCAGCAGACCCCT c.720
R E Q Q P S V T S R S G G T Q V Q Q T P p.240
. . . . . . g.10475
GCCTCATGCCCCTTGGACAGCGACCTCTCTGAGGATGAGGACCTGCAGCTGGCCATGGCC c.780
A S C P L D S D L S E D E D L Q L A M A p.260
. . . . | 10 . g.11686
TACAGCCTGTCAGAGATGGAGGCAGCTGGGAAGAAACCCGCAG | ATGTGTTCTGA c.834
Y S L S E M E A A G K K P A D | V F X p.277
. . . . . . g.11746
gctggatgccgggttccagaatcgctgcacagttccaacaggacagcgccttcccccatg c.*60
. . . . . . g.11806
cgctgggaggggaccctccatttctccccctcacccatgctgagtgtagagccggggcct c.*120
. . . . . . g.11866
gggtggcgggtgggggccgggtgggaggtggcagtagtcttagcctgtgcactctcttcc c.*180
. . . . . . g.11926
ttgggtgtttggtgctggctcctggggactacaaatcccagagtgcggtgtgcccggcct c.*240
. . . . . . g.11986
catttctgatagatcccgcttgggggaggtggtgtatggttacggagctgtgcatcttgg c.*300
. . . . . . g.12046
gacatgtagtagcccaggtcggcttgtcactcgctgtgagatggggagattttgtctttt c.*360
. . . . . . g.12106
gatttatccctgtagggctggcagggttgtagatgaagggggaatgatctgagccttggt c.*420
. . . . . . g.12166
tcccctgacacgtcttgctagccccagggttagagtgggcagggcagagccgcgcagcac c.*480
. . . . . . g.12226
ctgggagcggtacctttcccttgggcagcctggggtcccaggaacaagccagggcgagtg c.*540
. . . . . . g.12286
gcatgtctgcctgagcagggtgtggccccagaaagctgaggagtgtgggctggcagagag c.*600
. . . . . . g.12346
cttcgagggcaaggccacccgcgggggcgtgtgtgtggtggggcttggcatgtgatggca c.*660
. . . . . . g.12406
gctccaggcatgccgctgcttgtatggctttctttggcctctgaccctgctgcccattct c.*720
. . . . . . g.12466
ttccaacatcacagatgaactgcctctcctcctccctgcctggggagcccagtggccagg c.*780
. . . . . . g.12526
gaggggagtggtggagccagtcgctgtaacactgagcctcagagacgaaccaaaaccagc c.*840
. . . . . . g.12586
tgggctgagctcagatccagggggaaatgctggaagtcaataaaactgagttttgagagc c.*900
g.12589
ttg c.*903
(downstream sequence)
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