(used for variant description)
(last modified November 29, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_001142333.1 in the RBFOX1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011881.2, covering RBFOX1 transcript NM_001142333.1.
(upstream sequence)
. . g.5028
tccggctctcctttgtttattttctaat c.-961
. . . . . . g.5088
ctatatttttactggaagatttcctctttattctctcccgccctcctacaagcgctcttg c.-901
. . . . . . g.5148
ctggccgtctgggtgcacacaccgctccctcgatcaccccagcccccttcctggtctccc c.-841
. . . . . . g.5208
gagcgcggggtttgaaggtcacctcctttccagtccccgtgcgagccgcgctgccgccgc c.-781
. . . . . . g.5268
ctcctccagccagagtcggtgggactggctgcgctgccctgaagtggttctccaagcagc c.-721
. . . . . . g.5328
gcggagggtggcggacggcggacggagcccaggggccgcgtcgggtggggaaacccgaac c.-661
. . . . . . g.5388
tcgcggaggggaatccctccccctccgccccagccccccagcagcacccgcggtggggcg c.-601
. . . . . . g.5448
ggggcgctctgccagccccgggaacagcagaggcggcggcactggctggacccacgcgcg c.-541
. . . . . . g.5508
cgcctccggggctgaagaaggaaggagtgagccgagccgagcaccccacatctggagggg c.-481
. . . . . . g.5568
acagccagccgtgggccccgccccggcgtccggagcaggagaactccgagcttcttgccc c.-421
. . . . . . g.5628
aggcagagagagcaggagcggaccgcgcgcccgggattgagagtccttgcgctccagacc c.-361
. . . . . . g.5688
cccacccagtggccgccagggtccccgcctgtccggaccctcgccgcgcccaggcaggcg c.-301
. . . . . . g.5748
cgccagggcggggctgacctgcccgcgaagttgcggacagtgcgtgagaaaccagcaccc c.-241
. . . . . . g.5808
ccttccgccgcctccagcttatggtgagtgtggctgggggtgcagagagcgcacgggaat c.-181
. . . . . . | 02 g.302870
tcgggggtctggggccgagaacgtgaccgcagccgggctcgccgggagttctag | gaaact c.-121
. . . . . . | 03 g.640475
ggtcaaagaactcatgcaagtggaacttacagcttccttgatcggactcagcattca | gat c.-61
. . . . . | 04 . g.1037941
atcaaagcagactgcaatacctgcgtggaaatagaagacagaaag | gtttcaagacaacag c.-1
. . | 05. . . . g.1504050
ATGAATTGTGAAAGAGAGCAGCTAAGG | GGTAATCAGGAAGCAGCCGCTGCCCCTGACACA c.60
M N C E R E Q L R | G N Q E A A A A P D T p.20
. . . . . . g.1504110
ATGGCTCAGCCTTACGCTTCGGCCCAGTTTGCTCCCCCGCAGAACGGTATCCCCGCGGAA c.120
M A Q P Y A S A Q F A P P Q N G I P A E p.40
. . . . . . g.1504170
TACACGGCCCCTCATCCCCACCCCGCGCCAGAGTACACAGGCCAGACCACGGTTCCCGAG c.180
Y T A P H P H P A P E Y T G Q T T V P E p.60
. . . . . . g.1504230
CACACATTAAACCTGTACCCTCCCGCCCAGACGCACTCCGAGCAGAGCCCGGCGGACACG c.240
H T L N L Y P P A Q T H S E Q S P A D T p.80
. . . | 06 . . . g.1565677
AGCGCTCAGACCGTCTCTGGCACCGCCACA | CAGACAGATGACGCAGCACCGACGGATGGC c.300
S A Q T V S G T A T | Q T D D A A P T D G p.100
. . . . . . g.1565737
CAGCCCCAGACACAACCTTCTGAAAACACGGAAAACAAGTCTCAGCCCAAGCGGCTGCAT c.360
Q P Q T Q P S E N T E N K S Q P K R L H p.120
. . . . . | 07 . g.1573123
GTCTCCAATATCCCCTTCAGGTTCCGGGATCCGGACCTCAGACAAATGTTTGGT | CAATTT c.420
V S N I P F R F R D P D L R Q M F G | Q F p.140
. . . . | 08 . g.1581431
GGTAAAATCTTAGATGTTGAAATTATTTTTAATGAGCGAGGCTCAAAG | GGATTTGGTTTC c.480
G K I L D V E I I F N E R G S K | G F G F p.160
. . . . . . g.1581491
GTAACTTTCGAAAATAGTGCCGATGCGGACAGGGCGAGGGAGAAATTACACGGCACCGTG c.540
V T F E N S A D A D R A R E K L H G T V p.180
. . | 09 . . . . g.1583280
GTAGAGGGCCGTAAAATCGAG | GTAAATAATGCCACAGCACGTGTAATGACAAATAAAAAG c.600
V E G R K I E | V N N A T A R V M T N K K p.200
. . | 10 . . . . g.1593193
ACCGTCAACCCTTATACAAATG | GCTGGAAATTGAATCCAGTTGTGGGTGCAGTCTACAGT c.660
T V N P Y T N G | W K L N P V V G A V Y S p.220
. | 11 . . . . . g.1639729
CCCGAATTCTATGCAG | TGCCAGGCTTCCCGTATCCAGCAGCCACCGCCGCGGCCGCCTAC c.720
P E F Y A V | P G F P Y P A A T A A A A Y p.240
. . . . . . g.1639789
CGAGGGGCGCACCTGCGAGGCCGCGGTCGCACCGTGTACAACACCTTCAGGGCCGCGGCG c.780
R G A H L R G R G R T V Y N T F R A A A p.260
. . | 12 . . . g.1650830
CCCCCGCCCCCGATCCCGGCCTACGGCGG | TGTTGTTTACCAGGATGGATTTTATGGTGCA c.840
P P P P I P A Y G G | V V Y Q D G F Y G A p.280
| 13 . . . . . g.1662695
GACATTTAT | GGTGGTTATGCTGCATACCGCTACGCCCAGCCTACCCCTGCCACTGCCGCT c.900
D I Y | G G Y A A Y R Y A Q P T P A T A A p.300
. | 14 . . . . . g.1694972
GCCTACAGTGACAG | TTACGGACGAGTTTATGCTGCCGACCCCTACCACCACGCACTTGCT c.960
A Y S D S | Y G R V Y A A D P Y H H A L A p.320
. . . | 15 . . . g.1696523
CCAGCCCCCACCTACGGCGTTGGTGCCATG | AATGCTTTTGCACCTTTGACTGATGCCAAG c.1020
P A P T Y G V G A M | N A F A P L T D A K p.340
. . . . . . g.1696583
ACTAGGAGCCATGCTGATGATGTGGGTCTCGTTCTTTCTTCATTGCAGGCTAGTATATAC c.1080
T R S H A D D V G L V L S S L Q A S I Y p.360
. . . g.1696616
CGAGGGGGATACAACCGTTTTGCTCCATACTAA c.1113
R G G Y N R F A P Y X p.370
. . . . . . g.1696676
atgacaaaaccataaaaaccttccaatgtggggagaaaggaagctttccgaggcctgagt c.*60
. . . . . . g.1696736
attgcaatacatgcagtagtacatcattttagcaactctaaaaaaaaaaaaaatacaaat c.*120
. . . . . . g.1696796
aaaaaggaaaaaaaattacattttttatcttatacctcagatattttgttctgtgtattt c.*180
. . . . . . g.1696856
taatattgtgggtctttaatttctgaaggttccgtagtttggttgctggctgtaggagtt c.*240
. . . . . . g.1696916
tttgtggttgatctagacagatgctagataatgaataaaaactggtttagggccatatcc c.*300
. . . . . . g.1696976
agagtgctatattatgtaaatgaattatatatgctgaatattaagctactggggttatca c.*360
. . . . . . g.1697036
gctatttgggaagagtgtaagtgactacagtagtcatttttttctgcacctgcattattt c.*420
. . . . . . g.1697096
tattttgcgaaaggggaggttgggaggggcttaggggattggaactggggtttggctgaa c.*480
. . . . . . g.1697156
agaaaaaaaaaaaaatgtaactgatgaatctaaacgacccactgcaccaacaatcattta c.*540
. . . . . . g.1697216
tcaatggttctaagttactcattgccagttcaagccaaaggtcatgttgttaagggggtg c.*600
. . . . . . g.1697276
cttctagtagcacttgtgcatctgagttgaatgaagctgtgcaaacccaccctttaaacc c.*660
. . . . . . g.1697336
attccacccggcagtattcagcttcttaaccagtcgctatttaggaaaaaaaacccacta c.*720
. . . . . . g.1697396
gttaggccatcaacaagcattctttttatatttcttccagtataataaattattgatatc c.*780
. . . . . . g.1697456
actgctgacttttatattatgggagggaaaaaataacattaataaaaaggtgataaaaaa c.*840
. . . . . . g.1697516
gcactgtttctatttttttctttttttccaaaaaaagaaagtaataaaaacttaaattct c.*900
. . . . . . g.1697576
ttgtaccagttaaaaaaaatgtataaaatttacatctgtgcagtggagttgttaagttct c.*960
. . . . . . g.1697636
agaaacagtctatgaagctttagttttagcctagtagaacaactgttagagacagacgta c.*1020
. . . . . . g.1697696
taatttttatggaattacatgataatcatattcggatttatagaagcattttacaagtat c.*1080
. . . . . . g.1697756
tgcaatcattgagtagagataatcatggtattttcatcagcttggtactttttgaaacgt c.*1140
. . . . . . g.1697816
gactgcgttgtgtgaacaatctgcaatttttcagtccgtgagatcctgcccttccacctc c.*1200
. . . . . . g.1697876
tttcccatacccccaaggattatctcaaaatgatctctttagttctgtctccaaggccca c.*1260
. . . . . . g.1697936
ggacacttgtcagaaggatgcaaaaaaagaaaaaagtacatccaccctcttaatcccaaa c.*1320
. . . . . . g.1697996
agaacaaagtctccccacctttctcggatgcagggccagagtgacacagccgaaaaattg c.*1380
. . . . . . g.1698056
cagtttgtctgtacttctgtttgaactttccacgttgtcctgtttacaagttaacttaag c.*1440
. . . . . . g.1698116
ttggggtatccgtcacgggtcttcctgttttgtatttaaataaaaacaacagcagcaggc c.*1500
. . . . . . g.1698176
tgtccctgagtagttttgctgccataggttaagtcctcatgtgtacagtgcaggccctgt c.*1560
. . . . . . g.1698236
ggcccgcacttcagtaagttatcaactctcaccgctgtgaacctgccaatccgctgtaac c.*1620
. . . . . . g.1698296
aactctgctttaaaacaaaaccaaacaaaactttaaaaaaaaatgtgtgatccagctttc c.*1680
. . . . . . g.1698356
tcttgccatcctatgtgcatgccgtaagatcagttggatattaaaccatcaataaagttt c.*1740
. . . . . . g.1698416
cacaagatttgaaaacaaagtttctgtagcttcgatacctaagacagacgatagtgatct c.*1800
. . . . . . g.1698476
tgaaaagagaaaagggggaggggggagctacttatcagccaaaagcatataaagtgttct c.*1860
. . . . . . g.1698536
tttcaccagacttctttgggtgggtgaggggaggggcaagagggtgttttatagcatcac c.*1920
. . . . . . g.1698596
taagacattctcattcccccacctggaaaacagtgttatggcaatgggtgcctggttgat c.*1980
. . . . . . g.1698656
gttcttaaaggaaacgaattattaaaacactatgacatcctccagagggaagaaagagta c.*2040
. . . . . . g.1698716
ggagcagggggctatggagaataaatttctcccaattgccgcctcagatttcaaaatcca c.*2100
. . . . . . g.1698776
gaatttgtattgtgtttcgaatcacaaacatagaattcttactgtgttggttaaagtaaa c.*2160
. . . . . . g.1698836
attcatttgcagttttgattttcatcaatgagctgtactttcccccatgactgtatgtag c.*2220
. . . . . . g.1698896
ttttaataaaatcatttagagtgagtgagtgccaaccgatgttgcagaatcttttgtcta c.*2280
. . . . . . g.1698956
ggcactccaagatgccaataagtcattttaaaatgtatgtcagagatgtaaacaaacatt c.*2340
. . . . . . g.1699016
ttggattttttttaaacagtatttatttggaatgttttcatttatctaaataactattgc c.*2400
. . . . . . g.1699076
tattatgaattatggaaaattaatattatgtgtggcatatagtgacttcttaacacacac c.*2460
. . . . . . g.1699136
atcacgcaatctgcaaacccagaaaatgtgtatatctgtctttagaaattagtgtttata c.*2520
. . . . . . g.1699196
tcacttacagtggtttgtgaataaagaaaactggtttgtaatatcaaaaaaataaaagct c.*2580
. g.1699209
tagtctgaaaagg c.*2593
(downstream sequence)
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