(used for variant description)
(last modified November 27, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_006521.4 in the TFE3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016297.1, covering TFE3 transcript NM_006521.4.
(upstream sequence)
. . . . . g.5058
gggggaggagggcggtcgtccggggttaggttgagggggggcgtcggtccgttctggg c.-181
. . . . . . g.5118
cgggggatgactcacagcccatcccatctcccagacgccgcccgcccgcgcagtgctagc c.-121
. . . . . . g.5178
tccatggcttagcggaggaggcggcagtggcgagctggggggaggggggactcttatttt c.-61
. . . . . . g.5238
gttagggggaccgggccgaggcccgaccggcctggcagggctcgcccggggccgggcgtc c.-1
. . . . . . g.5298
ATGTCTCATGCGGCCGAACCAGCTCGGGATGGCGTAGAGGCCAGCGCGGAGGGCCCTCGA c.60
M S H A A E P A R D G V E A S A E G P R p.20
. . . . . | 02 . g.7899
GCCGTGTTCGTGCTGTTGGAGGAGCGCAGGCCGGCCGACTCGGCTCAGCTGCTCAG | CCTG c.120
A V F V L L E E R R P A D S A Q L L S | L p.40
. . . . . . g.7959
AACTCTTTGCTTCCGGAATCCGGGATTGTTGCTGACATAGAATTAGAAAACGTCCTTGAT c.180
N S L L P E S G I V A D I E L E N V L D p.60
. . . . . | 03 . g.9065
CCTGACAGCTTCTACGAGCTCAAAAGCCAACCCTTACCCCTTCGCTCAAG | CCTCCCAATA c.240
P D S F Y E L K S Q P L P L R S S | L P I p.80
. . . . . . g.9125
TCACTGCAGGCCACACCAGCCACCCCAGCTACACTCTCTGCATCGTCTTCTGCAGGGGGC c.300
S L Q A T P A T P A T L S A S S S A G G p.100
. . . . . . g.9185
TCCAGGACCCCTGCCATGTCGTCATCTTCTTCATCGAGGGTCTTGCTGCGGCAGCAGCTA c.360
S R T P A M S S S S S S R V L L R Q Q L p.120
. . . . . . g.9245
ATGCGGGCCCAGGCGCAGGAGCAGGAGAGGCGTGAGCGTCGGGAACAGGCCGCCGCGGCT c.420
M R A Q A Q E Q E R R E R R E Q A A A A p.140
. . . . . . g.9305
CCCTTCCCCAGTCCTGCACCTGCCTCTCCTGCCATCTCTGTGGTTGGCGTCTCTGCTGGG c.480
P F P S P A P A S P A I S V V G V S A G p.160
. . . . . | 04 . g.10029
GGCCACACATTGAGCCGTCCACCCCCTGCTCAGGTGCCCAGGGAGGTGCTCAAG | GTGCAG c.540
G H T L S R P P P A Q V P R E V L K | V Q p.180
. . . . . . g.10089
ACCCATCTGGAGAACCCAACGCGCTACCACCTGCAGCAGGCGCGCCGGCAGCAGGTGAAA c.600
T H L E N P T R Y H L Q Q A R R Q Q V K p.200
. . . . . . g.10149
CAGTACCTGTCCACCACACTCGGGCCCAAGCTGGCTTCCCAGGCCCTCACCCCACCGCCG c.660
Q Y L S T T L G P K L A S Q A L T P P P p.220
. . . . . . g.10209
GGGCCCGCAAGTGCCCAGCCACTGCCTGCCCCTGAGGCTGCCCACACTACCGGCCCCACA c.720
G P A S A Q P L P A P E A A H T T G P T p.240
. . . . . . g.10269
GGCAGTGCGCCCAACAGCCCCATGGCGCTGCTCACCATCGGGTCCAGCTCAGAGAAGGAG c.780
G S A P N S P M A L L T I G S S S E K E p.260
| 05 . . . . . . g.10411
| ATTGATGATGTCATTGATGAGATCATCAGCCTGGAGTCCAGTTACAATGATGAAATGCTC c.840
| I D D V I D E I I S L E S S Y N D E M L p.280
. . . . | 06 . . g.14239
AGCTATCTGCCCGGAGGCACCACAGGACTGCAGCTCCCCAGCACG | CTGCCTGTGTCAGGG c.900
S Y L P G G T T G L Q L P S T | L P V S G p.300
. . . . . . g.14299
AATCTGCTTGATGTGTACAGTAGTCAAGGCGTGGCCACACCAGCCATCACTGTCAGCAAC c.960
N L L D V Y S S Q G V A T P A I T V S N p.320
. . . . | 07 . . g.14710
TCCTGCCCAGCTGAGCTGCCCAACATCAAACGGGAGATCTCTG | AGACCGAGGCAAAGGCC c.1020
S C P A E L P N I K R E I S E | T E A K A p.340
. . . . | 08 . . g.14955
CTTTTGAAGGAACGGCAGAAGAAAGACAATCACAACCTAA | TTGAGCGTCGCAGGCGATTC c.1080
L L K E R Q K K D N H N L I | E R R R R F p.360
. . . . . | 09 . g.16935
AACATTAACGACAGGATCAAGGAACTGGGCACTCTCATCCCTAAGTCCAGTGACCC | GGAG c.1140
N I N D R I K E L G T L I P K S S D P | E p.380
. . . . . . g.16995
ATGCGCTGGAACAAGGGCACCATCCTGAAGGCCTCTGTGGATTATATCCGCAAGCTGCAG c.1200
M R W N K G T I L K A S V D Y I R K L Q p.400
. . . . . . g.17055
AAGGAGCAGCAGCGCTCCAAAGACCTGGAGAGCCGGCAGCGATCCCTGGAGCAGGCCAAC c.1260
K E Q Q R S K D L E S R Q R S L E Q A N p.420
. . | 10 . . . . g.17914
CGCAGCCTGCAGCTCCGAATTCAG | GAACTAGAACTGCAGGCCCAGATCCATGGCCTGCCA c.1320
R S L Q L R I Q | E L E L Q A Q I H G L P p.440
. . . . . . g.17974
GTACCTCCCACTCCAGGGCTGCTTTCCTTGGCCACGACTTCGGCTTCTGACAGCCTCAAG c.1380
V P P T P G L L S L A T T S A S D S L K p.460
. . . . . . g.18034
CCAGAGCAGCTGGACATTGAGGAGGAGGGCAGGCCAGGCGCAGCAACGTTCCATGTAGGG c.1440
P E Q L D I E E E G R P G A A T F H V G p.480
. . . . . . g.18094
GGGGGACCTGCCCAGAATGCTCCCCATCAGCAGCCCCCTGCACCGCCCTCAGATGCCCTT c.1500
G G P A Q N A P H Q Q P P A P P S D A L p.500
. . . . . . g.18154
CTGGACCTGCACTTTCCCAGCGACCACCTGGGGGACCTGGGAGACCCCTTCCACCTGGGG c.1560
L D L H F P S D H L G D L G D P F H L G p.520
. . . . . . g.18214
CTGGAGGACATTCTGATGGAGGAGGAGGAGGGGGTGGTGGGAGGACTGTCGGGGGGTGCC c.1620
L E D I L M E E E E G V V G G L S G G A p.540
. . . . . . g.18274
CTGTCCCCACTGCGGGCTGCCTCCGATCCCCTGCTCTCTTCAGTGTCCCCTGCTGTCTCC c.1680
L S P L R A A S D P L L S S V S P A V S p.560
. . . . g.18322
AAGGCCAGCAGCCGCCGCAGCAGCTTCAGCATGGAAGAGGAGTCCTGA c.1728
K A S S R R S S F S M E E E S X p.575
. . . . . . g.18382
tcaggcctcacccctcccctgggactttcccacccaggaaaggaggaccagtcaggatga c.*60
. . . . . . g.18442
ggccccgccttttcccccaccctcccatgagactgccctgcccaggtatcctgggggaag c.*120
. . . . . . g.18502
aggagatgtgatcaggccccacccctgtaatcaggcaaggaggaggagtcagatgaggcc c.*180
. . . . . . g.18562
ctgcaccttccccaaaggaaccgcccagtgcaggtatttcagaaggagaaggctggagaa c.*240
. . . . . . g.18622
ggacatgagatcagggcctgccccctggggatcacagcctcacccctgcccctgtgggac c.*300
. . . . . . g.18682
tcatccttgcccaggtgagggaaggagacaggatgaggtctcgaccctgtcccctaggga c.*360
. . . . . . g.18742
ctgtcctagccaggtctcctgggaaagggagatgtcaggatgttgctccatcctttgtct c.*420
. . . . . . g.18802
tggaaccaccagtctagtccgtcctggcacagaagaggagtcaagtaatggaggtcccag c.*480
. . . . . . g.18862
ccctgggggtttaagctctgccccttccccatgaaccctgccctgctctgcccaggcaag c.*540
. . . . . . g.18922
gaacagaagtgaggatgagacccagccccttcccctgggaactctcctggccttctagga c.*600
. . . . . . g.18982
atggaggagccaggccccaccccttccctataggaacagcccagcacaggtatttcaggt c.*660
. . . . . . g.19042
gtgaaagaatcagtaggaccaggccaccgctagtgcttgtggagatcacagccccaccct c.*720
. . . . . . g.19102
tgtccctcagcaacatcccatctaagcattccacactgcagggaggagtggtacttaagc c.*780
. . . . . . g.19162
tcccctgccttaacctgggaccaacctgacctaacctaggagggctctgagccaaccttg c.*840
. . . . . . g.19222
ctcttggggaaggggacagattatgaaatttcatggatgaattttccagacctatatctg c.*900
. . . . . . g.19282
gagtgagaggcccccacccttgggcagagtcctgccttcttccttgaggggcagtttggg c.*960
. . . . . . g.19342
aaggtgatgggtattagtgggggactgagttcaggttaccagaaccagtacctcagtatt c.*1020
. . . . . . g.19402
ctttttcaacatgtagggcaagaggatgaaggaaggggctatcctgggacctccccagcc c.*1080
. . . . . . g.19462
caggaaaaactggaagccttcccccagcaaggcagaagcttggaggagggttgtaaaagc c.*1140
. . . . . . g.19522
atattgtaccccctcatttgtttatctgatttttttattgctccgcatactgagaatcta c.*1200
. . . . . . g.19582
ggccaccccaacctctgttccccacccagttcttcatttggaggaatcaccccatttcag c.*1260
. . . . . . g.19642
agttatcaagagacactcccccctccattcccacccctcatacctacacccaaggttgtc c.*1320
. . . . . . g.19702
agctttggattgctggggccaggccccatggagggtatactgaggggtctataggtttgt c.*1380
. . . . g.19749
gattaaaataataaaagctaggcgtgtttgatgcgcttttaactttg c.*1427
(downstream sequence)
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