(used for variant description)
(last modified February 5, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_006260.4 in the DNAJC3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000013.10, covering DNAJC3 transcript NM_006260.4.
(upstream sequence)
. . . . . g.5057
agagccactgaggcctgagcgagagccgacggcgggcgggcgcagctgctgccggag c.-61
. . . . . . g.5117
cgccggcgcgtgctggtgggccacacacctttcctcctcttcactcgcgagccctcggac c.-1
. . . . . . g.5177
ATGGTGGCCCCCGGCTCCGTGACCAGCCGGCTGGGCTCGGTATTCCCCTTCCTGCTAGTC c.60
M V A P G S V T S R L G S V F P F L L V p.20
. . | 02 . . . . g.37126
CTGGTGGATCTGCAGTACGAAG | GTGCTGAATGTGGAGTAAATGCAGATGTTGAGAAACAT c.120
L V D L Q Y E G | A E C G V N A D V E K H p.40
. . . . . . g.37186
CTTGAATTGGGCAAGAAATTACTTGCAGCTGGACAGCTAGCTGATGCTTTATCTCAGTTT c.180
L E L G K K L L A A G Q L A D A L S Q F p.60
. | 03 . . . . . g.51150
CATGCTGCCGTAG | ATGGTGACCCTGATAACTATATTGCTTATTATCGGAGGGCTACTGTC c.240
H A A V D | G D P D N Y I A Y Y R R A T V p.80
. . . . . . g.51210
TTTTTAGCTATGGGCAAATCAAAAGCTGCACTTCCTGATTTAACTAAAGTGATTCAATTG c.300
F L A M G K S K A A L P D L T K V I Q L p.100
. | 04 . . . . g.53081
AAGATGGACTTCACTGCA | GCAAGATTACAGAGAGGTCACTTATTACTCAAACAAGGAAAA c.360
K M D F T A | A R L Q R G H L L L K Q G K p.120
. . . | 05 . . . g.85532
CTTGATGAAGCAGAAGATGATTTTAAAAAAGTG | CTCAAATCTAATCCAAGTGAAAATGAA c.420
L D E A E D D F K K V | L K S N P S E N E p.140
. . . . . . g.85592
GAAAAGGAAGCACAGTCTCAACTTATAAAATCTGATGAAATGCAGCGTTTGCGTTCACAA c.480
E K E A Q S Q L I K S D E M Q R L R S Q p.160
. . . . . . g.85652
GCACTTAACGCTTTTGGAAGTGGAGATTATACTGCTGCTATAGCCTTCCTTGATAAGATT c.540
A L N A F G S G D Y T A A I A F L D K I p.180
| 06 . . . . . . g.87955
TTAGAG | GTTTGTGTTTGGGATGCAGAACTACGGGAACTTCGAGCTGAATGTTTTATAAAA c.600
L E | V C V W D A E L R E L R A E C F I K p.200
. . . . . . g.88015
GAAGGAGAACCTAGGAAAGCTATAAGTGACTTAAAAGCTGCGTCAAAGTTGAAGAATGAT c.660
E G E P R K A I S D L K A A S K L K N D p.220
. . . . . . g.88075
AATACTGAAGCGTTTTATAAAATAAGCACACTGTACTACCAACTAGGAGACCACGAACTG c.720
N T E A F Y K I S T L Y Y Q L G D H E L p.240
| 07 . . . . . g.88592
TCCCTCAG | TGAAGTTCGGGAATGTCTTAAACTTGACCAGGATCATAAAAGGTGTTTTGCA c.780
S L S | E V R E C L K L D Q D H K R C F A p.260
. . . . . . g.88652
CACTATAAACAAGTAAAGAAACTTAATAAGCTGATTGAGTCAGCTGAAGAGCTCATCAGA c.840
H Y K Q V K K L N K L I E S A E E L I R p.280
| 08 . . . . . g.91556
GATGGCAG | ATACACAGATGCTACCAGCAAATATGAATCTGTCATGAAAACAGAGCCAAGC c.900
D G R | Y T D A T S K Y E S V M K T E P S p.300
. . . . . | 09 . g.91700
ATTGCTGAATATACAGTTCGTTCAAAGGAGAGGATTTGCCACTGCTTTTCTAAG | GACGAG c.960
I A E Y T V R S K E R I C H C F S K | D E p.320
. . . . . . g.91760
AAGCCTGTTGAAGCTATTAGGGTTTGTTCTGAAGTTTTACAGATGGAACCTGACAATGTG c.1020
K P V E A I R V C S E V L Q M E P D N V p.340
. . . . . | 10 . g.113805
AATGCCCTGAAAGATCGAGCAGAGGCCTATTTGATAGAGGAAATGTATGATGAAG | CTATT c.1080
N A L K D R A E A Y L I E E M Y D E A | I p.360
. . . . . . g.113865
CAGGATTATGAAACTGCTCAGGAACACAATGAAAATGATCAGCAGATTCGAGAAGGTCTA c.1140
Q D Y E T A Q E H N E N D Q Q I R E G L p.380
. . . . . . g.113925
GAGAAAGCACAAAGATTATTGAAACAGTCGCAGAAACGAGATTATTATAAAATCTTGGGA c.1200
E K A Q R L L K Q S Q K R D Y Y K I L G p.400
| 11 . . . . . g.114920
GTAAAAAG | AAATGCCAAAAAGCAAGAAATTATTAAAGCATACCGAAAATTAGCACTGCAG c.1260
V K R | N A K K Q E I I K A Y R K L A L Q p.420
. . . . . . g.114980
TGGCACCCAGATAACTTCCAGAATGAAGAAGAAAAGAAAAAAGCTGAGAAAAAGTTCATT c.1320
W H P D N F Q N E E E K K K A E K K F I p.440
. . . | 12. . . g.118757
GATATAGCAGCTGCTAAAGAAGTCCTCTCTGATCCAG | AAATGAGAAAGAAGTTTGACGAC c.1380
D I A A A K E V L S D P E | M R K K F D D p.460
. . . . . . g.118817
GGAGAAGATCCTTTGGATGCAGAGAGCCAGCAAGGAGGCGGCGGCAACCCTTTCCACAGA c.1440
G E D P L D A E S Q Q G G G G N P F H R p.480
. . . . . . g.118877
AGCTGGAACTCATGGCAAGGGTTCAATCCCTTCAGCTCAGGCGGACCATTTAGATTTAAA c.1500
S W N S W Q G F N P F S S G G P F R F K p.500
. g.118892
TTCCACTTCAATTAA c.1515
F H F N X p.504
. . . . . . g.118952
accaactgtttttctgctcttcttaatttttttaaagattaaaaacaaagaaatcttgtt c.*60
. . . . . . g.119012
ccgggaccctaatgaaaaaaaatttcaaatcttttcagtttgtccatgaccaaagagttg c.*120
. . . . . . g.119072
ctttaataggaaaaaatctgttcttatccctgtcagatttatggttaatgggtttgcaac c.*180
. . . . . . g.119132
ggcaaggaggcaaggaatggttctatttctgacagagcagcctgcatctgctttatgctg c.*240
. . . . . . g.119192
tctggagggaagtggtctgaggcaggctcacccgtggaagtgctcacgtattctgtatta c.*300
. . . . . . g.119252
tttttctacactggagctgagattcttctcttcacagccttgcagagtaagtcagtgcct c.*360
. . . . . . g.119312
acaagtgtaagaaggagctgtaatcttcatgaggatggttatacttcagtattcttaaag c.*420
. . . . . . g.119372
agaacatgaacatttttgagctgtatgttcttagggacaactgtgcttcgatgtggtcag c.*480
. . . . . . g.119432
tctcgtcacttgtgagtagctgtgaaatctttagtgtgcatgtgtttgcacctctgtggt c.*540
. . . . . . g.119492
ctgtcaacgtggctgtcactgaaggagcaagagaccatcttttaggaaccctgccaccaa c.*600
. . . . . . g.119552
ataataatatatccaggcttagactttggattaatgttaaatgtacatttttttggttca c.*660
. . . . . . g.119612
gtacctgaagaagaatactgaaacttgaatctataaattcctatggacccttttaatatt c.*720
. . . . . . g.119672
aaacacaacaaattaaaagttgttataggtaaaataagttcagataaaatagtggtggta c.*780
. . . . . . g.119732
tttaaaataatattgctgaagtgcagattgaaatactttttaaacaactgaagttctgag c.*840
. . . . . . g.119792
tttttatagggaatttcatgtaacaagactggtttagaaacgtaaagttgcgcagtcaac c.*900
. . . . . . g.119852
ataaataaatacagaatgccatgttctccacttctaagtaaagacagtgggcagcttctg c.*960
. . . . . . g.119912
tttctccttctatcaaggcttcaccctatcttaaaggtctgtggtgcctcccacgtggga c.*1020
. . . . . . g.119972
cctgtctgctggtatgtgttaaacagcagaccggcccttctaccagatcttgatgcctct c.*1080
. . . . . . g.120032
gattttctcctgcctacaagaaaatacaggcaaggttagtcaggtctggctatatttcca c.*1140
. . . . . . g.120092
ctgttgtttcatttaataagatggcatctcctcttgagatatgttcttcttaccttttaa c.*1200
. . . . . . g.120152
gaagatactatttaagaagtgaactattcagtctttgtatactgaatgctttttccctaa c.*1260
. . . . . . g.120212
aaaatgttaatcaagaatattgaatatttatggcactcttgatgctgcatttgaaagctg c.*1320
. . . . . . g.120272
aaggaattactttagatagataggaattgctacctttattctggaaaggttttgtttctg c.*1380
. . . . . . g.120332
cctcaaagcattttgaagtgttttaaccattaaagggtctaatttttttttcttaatgaa c.*1440
. . . . . . g.120392
atcaagcattttaattcactgtgggaggcatcctgaccacggacatccataacagcaaag c.*1500
. . . . . . g.120452
cacaaatcgttttcgtctgtagtcatatcctgaaacataggtggacaaatttttaactga c.*1560
. . . . . . g.120512
gagacaaaaatcacatagttgaattgagcagaacacttaagtgctttctgcatctattta c.*1620
. . . . . . g.120572
ggagtctatttcttaccaataaacttgacaacgcatttggaaaactagtgaacaccttac c.*1680
. . . . . . g.120632
agctttcattttgctttaatgtttcaattcaagccggtgtaaaaataatttccaaggcat c.*1740
. . . . . . g.120692
ttctgtttattctttagtaatctcactactggctatgtcagcaatatctttttcaatctg c.*1800
. . . . . . g.120752
gttccttttgtatatgatgtcactgtgacctctttgaaatatagtgatggcttttaccta c.*1860
. . . . . . g.120812
ctttgaaaagaattttcacatagagtcagaaaaaaaaggaaatatcaaatcacttgcctt c.*1920
. . . . . . g.120872
tccacttggagagcacgacagttgccaacaacaaggggtcaagggccgcacaggagatgt c.*1980
. . . . . . g.120932
gtgggggcctggccacctcccacctgctgcccagaggcttgtttgcattttcattttttc c.*2040
. . . . . . g.120992
tccacttgtaacaaccatagtttcagctcctaaattcttatcatggatttacttagtcat c.*2100
. . . . . . g.121052
cttaactgacctgcagttacttgcctgttttcagtgaagagagagaagcagctctggtgc c.*2160
. . . . . . g.121112
cacatgccagtgccatggagggaaatgaattctctgcaatctgttgtttcgctgattcat c.*2220
. . . . . . g.121172
gaagaaagtaacaactgttgagtttcagccttgatggctgtcggcagttttctggtgtcc c.*2280
. . . . . . g.121232
acccaaacggagagacagtcactcctgcttaccctaatgtgtgactgagaagcagcctgg c.*2340
. . . . . . g.121292
gtgtgtaaagagatagtcattccccctgcctgtctcactgtagggtagcattatccactg c.*2400
. . . . . . g.121352
taaaaccatactactttcattttcccttggggactacaggtgccaggtaacctttttttt c.*2460
. . . . . . g.121412
tttttttttttttttttgagacagaatcttgctctgttgcccaggctggagtgcagggac c.*2520
. . . . . . g.121472
acctcccgggttcaagcagttctcctgcctcagcctccaagtagctgggactataggcac c.*2580
. . . . . . g.121532
gcaccaccatgcctggctaatttttgtatttttagtagaaatggggtttcactgtgttag c.*2640
. . . . . . g.121592
ccaggatggtcttgatctcctgaccttgtgatctgcccgccttggccttccaaagtgttg c.*2700
. . . . . . g.121652
ggattacaggcgtgagccactgcgcctggccatcaggtaacctttatggctctttcagga c.*2760
. . . . . . g.121712
aaagtgaaatcagagaggcgtaccctagccacagctgttgtattctgctcttctttcctt c.*2820
. . . . . . g.121772
tttggtgagcttcatgggtggagttatcagtggtctgtactttgtggatattttgcccag c.*2880
. . . . . . g.121832
caggaagtattagacacatcagtctagaagcattgtgaaaaggttccaaaacgggagaca c.*2940
. . . . . . g.121892
aaatttaattcattcctcagttctgaaagtttgtgctttcttaccatgaatagatgaaaa c.*3000
. . . . . . g.121952
cttgaaaaaaatcttgacagtttactaatgtgaatcagatgtaacgtactactaattcta c.*3060
. . . . . . g.122012
caatgcctttctctttagtcagtattaaaaatcttttttaaagtattggtatgaaaacaa c.*3120
. . . . . . g.122072
atttttgttgccctgataatggaattttaaaactacccacagtttaagagaaaacataac c.*3180
. . . . . . g.122132
ttggtaaaaaaggtagccaataaaaccacaatttgaaattgataccattttctactcaca c.*3240
. . . . . . g.122192
atggatgatgaaaaatttcacctttaaatgggtcagaagttgtctttgacatttaccatg c.*3300
. . . . . . g.122252
aaaaaactacataaaatggctccctggtgaggttacagacacggccctggtgatgggcgt c.*3360
. . . . . . g.122312
tgcaaagttttcactgagcacacagcaatggtatcacctagagaagttcacgcaactttg c.*3420
. . . . . . g.122372
ttgaatgtagttgacttttccaaatttataaaggaaggaagaaggcaaatgttaatttgc c.*3480
. . . . . . g.122432
caacaacgaatatcctttttctaaatcagatcattccttttttgttagtggcagtttatc c.*3540
. . . . . . g.122492
ctgtaatttcaaatgacgttaagaggtgggattatttgggggttttttttgtttgtttac c.*3600
. . . . . . g.122552
agatgatctcatttgctgaatgattgatttaagagtaaaattagccactgcgtggctttg c.*3660
. . . . . . g.122612
tgtatagtaaccggttttgttgcacttgtctgtggctgaaacacttacctgcagtggaaa c.*3720
. . . . . . g.122672
gccgagcaaggaggaggtaaacattggagatgtttgtgaaaatattactcttgctgtgag c.*3780
. . . . . . g.122732
gttttagtttgttttgaatgagaaaagactaagtaacttaatccatctcaatgtagtgtt c.*3840
. . . . . . g.122792
ttaataaaaaaggaacctaatatttgaaatgggtctcagacatgtctacaaatatgggta c.*3900
. . . . . g.122851
ctatttttatgcccgtgtattttcacatttaataaaaatatttatggtcatatcagtat c.*3959
(downstream sequence)
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