(used for variant description)
(last modified July 24, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_004960.3 in the FUS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012889.2, covering FUS transcript NM_004960.3.
(upstream sequence)
. . . . g.5023
acttaagcttcgacgcaggaggcggggctgctcagtcctccaggc c.-61
. . . . . . g.5083
gtcggtactcagcggtgttggaacttcgttgcttgcttgcctgtgcgcgcgtgcgcggac c.-1
. | 02 . . | 03 . . g.7403
ATGGCCTCAAACG | ATTATACCCAACAAGCAACCCAAAG | CTATGGGGCCTACCCCACCCAG c.60
M A S N D | Y T Q Q A T Q S | Y G A Y P T Q p.20
. . . . . . g.7463
CCCGGGCAGGGCTATTCCCAGCAGAGCAGTCAGCCCTACGGACAGCAGAGTTACAGTGGT c.120
P G Q G Y S Q Q S S Q P Y G Q Q S Y S G p.40
. . . . . . g.7523
TATAGCCAGTCCACGGACACTTCAGGCTATGGCCAGAGCAGCTATTCTTCTTATGGCCAG c.180
Y S Q S T D T S G Y G Q S S Y S S Y G Q p.60
. | 04 . . . . . g.8776
AGCCAGAACA | CAGGCTATGGAACTCAGTCAACTCCCCAGGGATATGGCTCGACTGGCGGC c.240
S Q N T | G Y G T Q S T P Q G Y G S T G G p.80
. . . . . . g.8836
TATGGCAGTAGCCAGAGCTCCCAATCGTCTTACGGGCAGCAGTCCTCCTACCCTGGCTAT c.300
Y G S S Q S S Q S S Y G Q Q S S Y P G Y p.100
. . . | 05 . . . g.9102
GGCCAGCAGCCAGCTCCCAGCAGCACCTCGGGAAG | TTACGGTAGCAGTTCTCAGAGCAGC c.360
G Q Q P A P S S T S G S | Y G S S S Q S S p.120
. . . . . . g.9162
AGCTATGGGCAGCCCCAGAGTGGGAGCTACAGCCAGCAGCCTAGCTATGGTGGACAGCAG c.420
S Y G Q P Q S G S Y S Q Q P S Y G G Q Q p.140
. . . . . . g.9222
CAAAGCTATGGACAGCAGCAAAGCTATAATCCCCCTCAGGGCTATGGACAGCAGAACCAG c.480
Q S Y G Q Q Q S Y N P P Q G Y G Q Q N Q p.160
. . . . | 06 . . g.9824
TACAACAGCAGCAGTGGTGGTGGAGGTGGAGGTGGAGGTGGAG | GTAACTATGGCCAAGAT c.540
Y N S S S G G G G G G G G G G | N Y G Q D p.180
. . . . . . g.9884
CAATCCTCCATGAGTAGTGGTGGTGGCAGTGGTGGCGGTTATGGCAATCAAGACCAGAGT c.600
Q S S M S S G G G S G G G Y G N Q D Q S p.200
. . . . . . g.9944
GGTGGAGGTGGCAGCGGTGGCTATGGACAGCAGGACCGTGGAGGCCGCGGCAGGGGTGGC c.660
G G G G S G G Y G Q Q D R G G R G R G G p.220
. . . . . . g.10004
AGTGGTGGCGGCGGCGGCGGCGGCGGTGGTGGTTACAACCGCAGCAGTGGTGGCTATGAA c.720
S G G G G G G G G G G Y N R S S G G Y E p.240
. . . . | 07 . . g.11686
CCCAGAGGTCGTGGAGGTGGCCGTGGAGGCAGAGGTGGCATGGG | CGGAAGTGACCGTGGT c.780
P R G R G G G R G G R G G M G | G S D R G p.260
. | 08 . . . | 09 . g.13999
GGCTTCAATAAATTTGGTG | GCCCTCGGGACCAAGGATCACGTCATGACTCCG | AACAGGAT c.840
G F N K F G G | P R D Q G S R H D S E | Q D p.280
. . . . . . g.14059
AATTCAGACAACAACACCATCTTTGTGCAAGGCCTGGGTGAGAATGTTACAATTGAGTCT c.900
N S D N N T I F V Q G L G E N V T I E S p.300
. . . | 10 . . . g.14557
GTGGCTGATTACTTCAAGCAGATTGGTATTATTAAG | ACAAACAAGAAAACGGGACAGCCC c.960
V A D Y F K Q I G I I K | T N K K T G Q P p.320
. . . . . . g.14617
ATGATTAATTTGTACACAGACAGGGAAACTGGCAAGCTGAAGGGAGAGGCAACGGTCTCT c.1020
M I N L Y T D R E T G K L K G E A T V S p.340
. . . . | 11 . . g.14922
TTTGATGACCCACCTTCAGCTAAAGCAGCTATTGACTGGTTTGATG | GTAAAGAATTCTCC c.1080
F D D P P S A K A A I D W F D G | K E F S p.360
. . . . . . g.14982
GGAAATCCTATCAAGGTCTCATTTGCTACTCGCCGGGCAGACTTTAATCGGGGTGGTGGC c.1140
G N P I K V S F A T R R A D F N R G G G p.380
. . | 12 . . . g.15175
AATGGTCGTGGAGGCCGAGGGCGAGGAG | GACCCATGGGCCGTGGAGGCTATGGAGGTGGT c.1200
N G R G G R G R G G | P M G R G G Y G G G p.400
. . . . . . g.15235
GGCAGTGGTGGTGGTGGCCGAGGAGGATTTCCCAGTGGAGGTGGTGGCGGTGGAGGACAG c.1260
G S G G G G R G G F P S G G G G G G G Q p.420
. . . | 13 . . . g.15638
CAGCGAGCTGGTGACTGGAAGTGTCCTAATCC | CACCTGTGAGAATATGAACTTCTCTTGG c.1320
Q R A G D W K C P N P | T C E N M N F S W p.440
. . . . . . g.15698
AGGAATGAATGCAACCAGTGTAAGGCCCCTAAACCAGATGGCCCAGGAGGGGGACCAGGT c.1380
R N E C N Q C K A P K P D G P G G G P G p.460
. | 14 . . . . . g.15878
GGCTCTCACATGG | GGGGTAACTACGGGGATGATCGTCGTGGTGGCAGAGGAGGCTATGAT c.1440
G S H M G | G N Y G D D R R G G R G G Y D p.480
. . . . . . g.15938
CGAGGCGGCTACCGGGGCCGCGGCGGGGACCGTGGAGGCTTCCGAGGGGGCCGGGGTGGT c.1500
R G G Y R G R G G D R G G F R G G R G G p.500
. . . . | 15 . . g.16286
GGGGACAGAGGTGGCTTTGGCCCTGGCAAGATGGATTCCAG | GGGTGAGCACAGACAGGAT c.1560
G D R G G F G P G K M D S R | G E H R Q D p.520
. . g.16307
CGCAGGGAGAGGCCGTATTAA c.1581
R R E R P Y X p.526
. . . . . . g.16367
ttagcctggctccccaggttctggaacagctttttgtcctgtacccagtgttaccctcgt c.*60
. . . . . . g.16427
tattttgtaaccttccaattcctgatcacccaagggtttttttgtgtcggactatgtaat c.*120
. . . . . . g.16487
tgtaactatacctctggttcccattaaaagtgaccattttagttaaattttgttcctctt c.*180
. . . . . . g.16547
cccccttttcactttcctggaagatcgatgtcccgatcaggaaggtagagagttttcctg c.*240
. . . . . . g.16607
ttcagattaccctgcccagcaggaactggaatacagtgttcggggagaaggccaaatgat c.*300
. . . . . . g.16667
atccttgagagcagagattaaacttttctgtcatggggaaagttggtgtataaatgagaa c.*360
. . . . . . g.16727
atgaagaacatgggatgtcatgagtgttggcctaaatttgcccagctatggggaattttt c.*420
. . . . . . g.16787
cctttaccacatttatttgcatactggtcttagtttatttgcagcagtttatcccttttt c.*480
. . . . . . g.16847
aagaactctttgatcttttggcccttttaatggtgaggctcaaacaaactacatttaaat c.*540
. . . . . . g.16907
ggggcagtattcagatttgaccatggtggagagcgcttagccactctgggtctttcacag c.*600
. . . . . . g.16967
gaaggagagtaactgagtgctgcaggagtttgtggagtggagtcaggatctaggaggtga c.*660
. . . . . . g.17027
gtgactcccttcctagctgccctggtgaacagcgcttgggtagatacctgctataaggag c.*720
. . . . . . g.17087
actggtctggctgggttactttcacatcctgcctgtactcagagggcttgaggtcattga c.*780
. . . . . . g.17147
cattatgagattttaggcttgatccctttttgattggagggtggaaggccctcctaaggg c.*840
. . . . . . g.17207
aatgataagtgataagagggggaaggggttgcagccaatgagttaaaaccttagagcagt c.*900
. . . . . . g.17267
gctcctcagcctcttaccatgtggttgtaaacttgcacgtacctgccaaccagttattta c.*960
. . . . . . g.17327
gcatgctttttattttagttacacagagcgtaacattaacccaagagcagaaaggtttta c.*1020
. . . . . . g.17387
tttacagggttttcgaacttggtttgtaagacagctgccatcacaagcatagcttacaaa c.*1080
. . . . . . g.17447
tgtgctggggacccctaattgggaagtgctttcctctcaaatttttattttttattttta c.*1140
. . . . . . g.17507
gagacagagtcttgctctgtcatccaggctggagtgcagtggcgtgatctcggctcactg c.*1200
. . . . . . g.17567
tagcctctgcctcctgagtttaagcgattctcctgcctcaggagaatcccagcttctgag c.*1260
. . . . . . g.17627
tagctgagactacaggcgtgggccaccatgcccacctagtttttgcatttttagtggagg c.*1320
. . . . . . g.17687
tgtggtttcactgtgttggccaggctggtctcttaactcctgacctcaggtgatccacct c.*1380
. . . . . . g.17747
gccttggcctcccaaagtgctggaattacaggcatgagccgctgcatctggccatcctct c.*1440
. . . . . . g.17807
caaattttcaagtgttccacaagtatgttctctactgaagagttgctgcatccttgaatc c.*1500
. . . . . . g.17867
ttgggtgatttgaggcacagaaactatgactttattttttgagatggagttttgctcttg c.*1560
. . . . . . g.17927
ttgcccaggctggagtgcaatggcacgtttttcggcttaccgcaactgccgcctcctggg c.*1620
. . . . . . g.17987
ttcaagcgatagctgggattacaggcatgcgccaccatgcccagctaatttatttgtatt c.*1680
. . . . . . g.18047
tttagtagagacggggtttctccatgttggtcaggctggtctcgaactcccgacctcagg c.*1740
. . . . . . g.18107
tgatgtgcacacctcagcctcccaataaaccatgacttttaagaggaatagcaggtttac c.*1800
. . . . . . g.18167
ttcccctgccagcattggggtgctctctaagcaacagtaggcggagagtggtctggcgta c.*1860
. . . . . . g.18227
ttaaaaacaaaggatcgtcaagtgggccttcccaggcattgctttgacttagtacatgta c.*1920
. . . . . . g.18287
gaggatgtggcagttctctccgtccctgccactgctggtttctttgttaaatgtttagtt c.*1980
. . . . . . g.18347
gaaatggcctgatacgatatttgagtagttcactgttggtgctttgcctagcaggattct c.*2040
. . . . . . g.18407
aatcttgctttggttgtggtcccctgatgccctcctgttaggagtggaggaggtcgaagc c.*2100
. . . . . . g.18467
tccttgtaagatatgattactgggaccattagtgtcaagttcctgtgtccttcaaatggc c.*2160
. . . . . . g.18527
atatgtgattggccttgaccttaaaaggaaatagggtcccaggtgactgtttagtgggta c.*2220
. . . . . . g.18587
ggtccagtttggggggatcttccaggagaatggatagagacacctagcagcagagagaac c.*2280
. . . . . . g.18647
attggtgcctctcaagccaacctcccacctcagcctcccaagtagctgggactacaggtg c.*2340
. . . . . . g.18707
cttcctcgctaccacacctgggtaattttttttttaattacttttttttttttaagaaac c.*2400
. . . . . . g.18767
agggtttcactgggttgcccaggctggtcttgaactggcctcaagtgacctgcctgcctc c.*2460
. . . . . . g.18827
agcctcccaaagtgctgggatcacaggtgtgacccactgcgtttggccagaatactctat c.*2520
. . . . . . g.18887
tcttactgaatgattgaaatctgtcttgaagcattaggtgtcccatttttgtgagttgga c.*2580
. . . . . . g.18947
attgggacaggctaagtaggaagtgaggagggtggggagagctgtgctgtaggtctgttt c.*2640
. . . . . . g.19007
gtcccttccttgatgtagccttcagttagccctttcagcttttttccccatcttgtgccg c.*2700
. . . . . . g.19067
ggccttcctgggtttcagtacttggatgtagggctgcagttatgtcagtggtgggtagat c.*2760
. . . . . . g.19127
tgaccaggaattaaggtctagggtccagcccatgtgagacttgactcactgatctacctt c.*2820
. . . . . . g.19187
taggcatgtcttccttccagtctcatcctttttaaattttttttttttttttgagacggt c.*2880
. . . . . . g.19247
ctcactctcacccaggctggattgcagtggtgtgatctcgaccaactgcaacctctgcct c.*2940
. . . . . . g.19307
cccacccgcaagctatctgcccacctcagcctctggagtagctgggacgggactacaggc c.*3000
. . . . . . g.19367
acctgccaccatgactggctaatttttttttgtattttttgtggagatggggtcttgcca c.*3060
. . . . . . g.19427
tgttgctcaggctggtctggtctcaaaactgctctgggctcaagtgattgtcccactttg c.*3120
. . . . . . g.19487
gcctcccagagtgctgggattaaggtgtgagatactgtgtccggctatgaaaattttatt c.*3180
. . . . . . g.19547
tttaattaacttgtatatatttatggggtacaatgtcctatttctgtacatgtacacatt c.*3240
. . . . . . g.19607
gtggaatcaaatcaggctaatatatccatcacttcatatcattagcatgaatgagaacat c.*3300
. . . . . . g.19667
acaaagccactcttagaaaattttgaaatttatgttatttcagcccttttatgctggagg c.*3360
. . . . . . g.19727
ttgcaaatgttttgtgaataatcagaccaaaaataaaaacaaaaaatgattgacttcagt c.*3420
. g.19740
cattcagtaagaa c.*3433
(downstream sequence)
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