(used for variant description)
(last modified May 8, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_016306.4 in the DNAJB11 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_034024.1, covering DNAJB11 transcript NM_016306.4.
(upstream sequence)
. . . . g.5040
ttggctctcgcctaccgggggcttctctcaccgggactcg c.-181
. . . . . . g.5100
ggactcccgggaagtggaccggcagaagagggggctagctagctgtctctgcggaccaag c.-121
. . . . . . g.5160
gagacccccgcgcccccccggtgtgaggcggcctcacagggccgggtgggctggcgagcc c.-61
. . . . . . g.5220
gacgcggcggcggaggaggctgtgaggagtgtgtggaacaggacccgggacagaggaacc c.-1
. . . . . . g.5280
ATGGCTCCGCAGAACCTGAGCACCTTTTGCCTGTTGCTGCTATACCTCATCGGGGCGGTG c.60
M A P Q N L S T F C L L L L Y L I G A V p.20
| 02 . . . . . g.6469
ATTGCCGG | ACGAGATTTCTATAAGATCTTGGGGGTGCCTCGAAGTGCCTCTATAAAGGAT c.120
I A G | R D F Y K I L G V P R S A S I K D p.40
. . . . . . g.6529
ATTAAAAAGGCCTATAGGAAACTAGCCCTGCAGCTTCATCCCGACCGGAACCCTGATGAT c.180
I K K A Y R K L A L Q L H P D R N P D D p.60
. . . . | 03 . . g.10177
CCACAAGCCCAGGAGAAATTCCAGGATCTGGGTGCTGCTTATGAG | GTTCTGTCAGATAGT c.240
P Q A Q E K F Q D L G A A Y E | V L S D S p.80
. . . . . . g.10237
GAGAAACGGAAACAGTACGATACTTATGGTGAAGAAGGATTAAAAGATGGTCATCAGAGC c.300
E K R K Q Y D T Y G E E G L K D G H Q S p.100
. . | 04 . . . . g.12027
TCCCATGGAGACATTTTTTCACA | CTTCTTTGGGGATTTTGGTTTCATGTTTGGAGGAACC c.360
S H G D I F S H | F F G D F G F M F G G T p.120
. . . . . . g.12087
CCTCGTCAGCAAGACAGAAATATTCCAAGAGGAAGTGATATTATTGTAGATCTAGAAGTC c.420
P R Q Q D R N I P R G S D I I V D L E V p.140
. . . | 05 . . . g.15717
ACTTTGGAAGAAGTATATGCAGGAAATTTTGTGGAA | GTAGTTAGAAACAAACCTGTGGCA c.480
T L E E V Y A G N F V E | V V R N K P V A p.160
. . . . . . g.15777
AGGCAGGCTCCTGGCAAACGGAAGTGCAATTGTCGGCAAGAGATGCGGACCACCCAGCTG c.540
R Q A P G K R K C N C R Q E M R T T Q L p.180
. . . . . | 06 g.16318
GGCCCTGGGCGCTTCCAAATGACCCAGGAGGTGGTCTGCGACGAATGCCCTAATGTCAA | A c.600
G P G R F Q M T Q E V V C D E C P N V K | p.200
. . . . . . g.16378
CTAGTGAATGAAGAACGAACGCTGGAAGTAGAAATAGAGCCTGGGGTGAGAGACGGCATG c.660
L V N E E R T L E V E I E P G V R D G M p.220
. . | 07 . . . . g.17076
GAGTACCCCTTTATTGGAGAAG | GTGAGCCTCACGTGGATGGGGAGCCTGGAGATTTACGG c.720
E Y P F I G E G | E P H V D G E P G D L R p.240
. . | 08 . . . . g.18227
TTCCGAATCAAAGTTGTCAA | GCACCCAATATTTGAAAGGAGAGGAGATGATTTGTACACA c.780
F R I K V V K | H P I F E R R G D D L Y T p.260
. . . . . . g.18287
AATGTGACAATCTCATTAGTTGAGTCACTGGTTGGCTTTGAGATGGATATTACTCACTTG c.840
N V T I S L V E S L V G F E M D I T H L p.280
. | 09 . . . . . g.18800
GATGGTCACAAG | GTACATATTTCCCGGGATAAGATCACCAGGCCAGGAGCGAAGCTATGG c.900
D G H K | V H I S R D K I T R P G A K L W p.300
. . . . . . g.18860
AAGAAAGGGGAAGGGCTCCCCAACTTTGACAACAACAATATCAAGGGCTCTTTGATAATC c.960
K K G E G L P N F D N N N I K G S L I I p.320
. . . . . | 10 . g.19674
ACTTTTGATGTGGATTTTCCAAAAGAACAGTTAACAGAGGAAGCGAGAGAAG | GTATCAAA c.1020
T F D V D F P K E Q L T E E A R E G | I K p.340
. . . . . g.19731
CAGCTACTGAAACAAGGGTCAGTGCAGAAGGTATACAATGGACTGCAAGGATATTGA c.1077
Q L L K Q G S V Q K V Y N G L Q G Y X p.358
. . . . . . g.19791
gagtgaataaaattggactttgtttaaaataagtgaataagcgatatttattatctgcaa c.*60
. . . . . . g.19851
ggtttttttgtgtgtgtttttgtttttattttcaatatgcaagttaggcttaattttttt c.*120
. . . . . . g.19911
atctaatgatcatcatgaaatgaataagagggcttaagaatttgtccatttgcattcgga c.*180
. . . . . . g.19971
aaagaatgaccagcaaaaggtttactaatacctctccctttggggatttaatgtctggtg c.*240
. . . . . . g.20031
ctgccgcctgagtttcaagaattaaagctgcaagaggactccaggagcaaaagaaacaca c.*300
. . . . . . g.20091
atatagagggttggagttgttagcaatttcattcaaaatgccaactggagaagtctgttt c.*360
. . . g.20123
ttaaatacattttgttgttatttttttcatga c.*392
(downstream sequence)
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