(used for variant description)
(last modified July 6, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_024496.3 in the IRF2BPL gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000014.8, covering IRF2BPL transcript NM_024496.3.
(upstream sequence)
g.5007
gcgagcc c.-901
. . . . . . g.5067
gcagccggagcaggagcgccgagacgcgcctccggaacgtagagtaacaatcacaacccc c.-841
. . . . . . g.5127
acattccgggcgagcgtgagcacgagcgggaagggatgcgacccgggccgaggcgccgcg c.-781
. . . . . . g.5187
cgagcgccctgcagccaacgtgagcgccgccagccgcggcggcccgggcgccggccaggc c.-721
. . . . . . g.5247
ctgggggcggcgggagcctgcgtgcgtgcactcctctcctctgctctcgtgcgtcctgga c.-661
. . . . . . g.5307
agcagtggccgcggcggctccctccggggtgcaaacccagtcgccgccagcagaacggcc c.-601
. . . . . . g.5367
gacgctgcggaggggagaaggtcctttctcggctgccaccccctcccccggtcctccggg c.-541
. . . . . . g.5427
gaagcagcggcttcagcaagattggacccgggcaccgggtggcactgaaccctctggccc c.-481
. . . . . . g.5487
tcgccccagggggcccgtcggggagaggacgcagctcgtaggggggtccccggggagagg c.-421
. . . . . . g.5547
aagagacagcccctttcgagcttccacgcaccagccactccggggagggggccaagaggc c.-361
. . . . . . g.5607
aacggcggccaccaccgggcaccctcgccccctcccctcgggccgggagcttccagccca c.-301
. . . . . . g.5667
agtctgcagcaccaggaagaaggcgcctgagctcccctcgcgacgagtcaaccgcagtag c.-241
. . . . . . g.5727
gaggtgggggcgaagagagggctgaacccgtccgctgcccgggcggtggagcccccacgg c.-181
. . . . . . g.5787
cgaggcgctgcgccggcggtggagactcgcgttccctccagcccctggggcagaactttc c.-121
. . . . . . g.5847
tcgccccccctcctccctcccccgcagtcggactccctccccagccggccagtcctcccg c.-61
. . . . . . g.5907
gaggagaaggcgccgcggagacagcccgggcgggggcctaccttccccagggcaggcatc c.-1
. . . . . . g.5967
ATGTCGGCGGCGCAGGTGTCCTCGTCCCGGAGACAATCTTGCTACCTGTGCGACCTGCCC c.60
M S A A Q V S S S R R Q S C Y L C D L P p.20
. . . . . . g.6027
CGCATGCCCTGGGCCATGATCTGGGACTTCTCGGAACCCGTATGCCGCGGTTGCGTCAAC c.120
R M P W A M I W D F S E P V C R G C V N p.40
. . . . . . g.6087
TACGAGGGCGCTGATCGCATCGAATTCGTGATCGAGACAGCGCGCCAGCTGAAGCGGGCG c.180
Y E G A D R I E F V I E T A R Q L K R A p.60
. . . . . . g.6147
CACGGCTGCTTCCAGGACGGCCGCTCCCCCGGGCCGCCGCCGCCCGTCGGGGTCAAGACA c.240
H G C F Q D G R S P G P P P P V G V K T p.80
. . . . . . g.6207
GTGGCCCTGTCGGCTAAGGAAGCGGCGGCGGCGGCGGCAGCAGCGGCGGCCGCCGCCGCC c.300
V A L S A K E A A A A A A A A A A A A A p.100
. . . . . . g.6267
GCCGCGCAACAGCAACAGCAACAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAG c.360
A A Q Q Q Q Q Q Q Q Q Q Q Q Q Q Q Q Q Q p.120
. . . . . . g.6327
CAGCAGCAGCAGCAACAACAGCTCAACCACGTTGATGGTTCCAGCAAGCCTGCGGTGCTG c.420
Q Q Q Q Q Q Q L N H V D G S S K P A V L p.140
. . . . . . g.6387
GCGGCCCCGTCTGGCCTGGAGCGCTACGGCCTAAGCGCTGCCGCCGCCGCCGCCGCCGCC c.480
A A P S G L E R Y G L S A A A A A A A A p.160
. . . . . . g.6447
GCCGCCGCTGCGGTGGAACAGCGCAGCCGCTTCGAGTACCCGCCACCGCCGGTGAGCCTG c.540
A A A A V E Q R S R F E Y P P P P V S L p.180
. . . . . . g.6507
GGAAGCAGCAGCCACACCGCGCGACTGCCCAACGGCCTGGGGGGCCCAAACGGCTTCCCC c.600
G S S S H T A R L P N G L G G P N G F P p.200
. . . . . . g.6567
AAACCAACACCAGAGGAGGGACCCCCAGAGCTGAACCGTCAGAGCCCCAATTCTTCTTCA c.660
K P T P E E G P P E L N R Q S P N S S S p.220
. . . . . . g.6627
GCGGCGGCGTCGGTGGCGTCTCGGCGTGGAACGCACGGTGGGCTGGTTACGGGGCTGCCC c.720
A A A S V A S R R G T H G G L V T G L P p.240
. . . . . . g.6687
AACCCGGGGGGTGGCGGAGGCCCCCAGCTCACCGTGCCCCCCAACCTGCTACCGCAGACG c.780
N P G G G G G P Q L T V P P N L L P Q T p.260
. . . . . . g.6747
CTGCTTAACGGCCCGGCCAGCGCTGCGGTACTCCCCCCACCCCCTCCCCACGCCCTGGGC c.840
L L N G P A S A A V L P P P P P H A L G p.280
. . . . . . g.6807
AGCCGTGGGCCCCCGACGCCTGCTCCCCCAGGGGCTCCTGGGGGCCCCGCTTGTCTCGGG c.900
S R G P P T P A P P G A P G G P A C L G p.300
. . . . . . g.6867
GGTACCCCGGGTGTATCGGCCACGTCGTCCTCCGCGTCGTCTTCGACCTCTTCGTCGGTG c.960
G T P G V S A T S S S A S S S T S S S V p.320
. . . . . . g.6927
GCAGAGGTGGGCGTGGGTGCTGGTGGTAAGAGGCCCGGCTCGGTGTCGAGCACAGACCAG c.1020
A E V G V G A G G K R P G S V S S T D Q p.340
. . . . . . g.6987
GAGCGCGAGTTGAAGGAGAAGCAGCGCAACGCCGAGGCCCTGGCCGAGCTGAGCGAGAGC c.1080
E R E L K E K Q R N A E A L A E L S E S p.360
. . . . . . g.7047
CTGCGCAACCGCGCCGAGGAGTGGGCCAGCAAGCCCAAGATGGTCCGCGACACGCTGCTC c.1140
L R N R A E E W A S K P K M V R D T L L p.380
. . . . . . g.7107
ACGCTGGCAGGCTGCACGCCCTACGAGGTTCGCTTCAAGAAGGACCACTCGCTGCTGGGC c.1200
T L A G C T P Y E V R F K K D H S L L G p.400
. . . . . . g.7167
CGCGTTTTCGCCTTCGACGCCGTCTCCAAGCCCGGCATGGACTACGAATTGAAGCTGTTC c.1260
R V F A F D A V S K P G M D Y E L K L F p.420
. . . . . . g.7227
ATTGAGTACCCCACGGGCTCGGGCAACGTGTACTCCAGTGCATCTGGTGTGGCCAAGCAG c.1320
I E Y P T G S G N V Y S S A S G V A K Q p.440
. . . . . . g.7287
ATGTATCAGGACTGCATGAAGGACTTCGGCCGGGGCCTATCCTCGGGTTTCAAGTACCTG c.1380
M Y Q D C M K D F G R G L S S G F K Y L p.460
. . . . . . g.7347
GAGTACGAAAAGAAGCACGGCTCCGGGGACTGGCGCCTGCTTGGAGACCTGCTCCCCGAA c.1440
E Y E K K H G S G D W R L L G D L L P E p.480
. . . . . . g.7407
GCCGTGCGCTTCTTCAAGGAGGGCGTGCCCGGCGCCGACATGCTGCCCCAGCCCTACCTG c.1500
A V R F F K E G V P G A D M L P Q P Y L p.500
. . . . . . g.7467
GACGCCAGCTGTCCCATGCTGCCCACTGCTCTGGTGAGTCTGAGCCGCGCCCCCAGCGCA c.1560
D A S C P M L P T A L V S L S R A P S A p.520
. . . . . . g.7527
CCCCCGGGGACCGGGGCCTTGCCGCCCGCCGCGCCGTCGGGCCGGGGCGCAGCCGCCAGC c.1620
P P G T G A L P P A A P S G R G A A A S p.540
. . . . . . g.7587
CTGCGCAAGAGAAAGGCCTCTCCGGAGCCCCCGGACTCAGCCGAGGGCGCGCTGAAGCTG c.1680
L R K R K A S P E P P D S A E G A L K L p.560
. . . . . . g.7647
GGCGAGGAACAGCAGAGGCAGCAGTGGATGGCGAACCAGAGCGAGGCGCTGAAGCTCACC c.1740
G E E Q Q R Q Q W M A N Q S E A L K L T p.580
. . . . . . g.7707
ATGTCCGCCGGGGGCTTCGCGGCGCCGGGGCACGCGGCGGGGGGTCCGCCTCCGCCGCCC c.1800
M S A G G F A A P G H A A G G P P P P P p.600
. . . . . . g.7767
CCACCTCTGGGACCCCATTCCAACCGGACCACCCCACCTGAGTCAGCCCCCCAGAACGGT c.1860
P P L G P H S N R T T P P E S A P Q N G p.620
. . . . . . g.7827
CCGTCCCCTATGGCCGCTCTCATGTCGGTGGCAGATACTCTGGGCACAGCGCACTCGCCC c.1920
P S P M A A L M S V A D T L G T A H S P p.640
. . . . . . g.7887
AAGGATGGCAGTTCCGTGCACTCTACCACTGCGTCGGCGCGGCGAAACAGCAGCAGCCCA c.1980
K D G S S V H S T T A S A R R N S S S P p.660
. . . . . . g.7947
GTCTCGCCGGCCTCCGTGCCGGGGCAGCGCCGCTTGGCATCACGTAACGGGGACCTGAAT c.2040
V S P A S V P G Q R R L A S R N G D L N p.680
. . . . . . g.8007
TTACAGGTGGCGCCCCCGCCGCCTAGCGCCCACCCGGGCATGGACCAAGTGCACCCCCAA c.2100
L Q V A P P P P S A H P G M D Q V H P Q p.700
. . . . . . g.8067
AACATTCCGGATTCCCCCATGGCCAACAGCGGACCCCTCTGCTGCACCATTTGCCACGAA c.2160
N I P D S P M A N S G P L C C T I C H E p.720
. . . . . . g.8127
CGTTTGGAGGATACGCATTTCGTTCAGTGCCCTTCCGTCCCCAGCCACAAATTTTGCTTC c.2220
R L E D T H F V Q C P S V P S H K F C F p.740
. . . . . . g.8187
CCTTGCTCTAGAGAGAGTATCAAGGCCCAGGGGGCCACCGGCGAGGTGTATTGCCCCAGC c.2280
P C S R E S I K A Q G A T G E V Y C P S p.760
. . . . . . g.8247
GGAGAGAAATGCCCCCTAGTCGGGTCGAATGTACCTTGGGCCTTCATGCAGGGCGAAATC c.2340
G E K C P L V G S N V P W A F M Q G E I p.780
. . . . . g.8298
GCGACTATCTTAGCTGGGGATGTTAAAGTGAAAAAGGAGAGAGACCCTTGA c.2391
A T I L A G D V K V K K E R D P X p.796
. . . . . . g.8358
accactgggcagccacctcctttgccctagaccagctcctctccaatcctgagggcccct c.*60
. . . . . . g.8418
cccccaacccaactcgaccctccctcccctcacccccaaggtgtagaattgtgaatataa c.*120
. . . . . . g.8478
cgaaactgcaaaaagttagtcttatgtatagacattattttcgtcgtatgtttctatatt c.*180
. . . . . . g.8538
ttgaaacaaaggtatgtaacttcttcatttgaaggataagctggtttgtgttaagcagta c.*240
. . . . . . g.8598
tagtattggttgggtcatttgcatcatatcgttagcatttatttggtggcagaatgtttg c.*300
. . . . . . g.8658
cctaggtacagaattaatagcccttagcaacgactgctgctggtgtgtatttttgtaaat c.*360
. . . . . . g.8718
gttatgcactctctgaaaggaaaaacacacacaaaagaaaaagacttttttttttttttt c.*420
. . . . . . g.8778
tttttttttgccaaggccagtgttgctgcctaaaaaaaaaaaaaaaaaaaaaaaaaaaaa c.*480
. . . . . . g.8838
aaaaaaatgctataaaatggtgaaagcttccttctaaactgccccaagtgttgaagtctt c.*540
. . . . . . g.8898
cactttattttgttgttttgttttgtttttctgttttgtttgcaaaatggtaagggggtg c.*600
. . . . . . g.8958
tcgggggggatggggtgtattttgttgcaagtttgtgaggggaaaatgttttggtttgtt c.*660
. . . . . . g.9018
tctactgacctgaatgtgttggatctacacgtgttgttttgtttttgctttattgatgca c.*720
. . . . . . g.9078
cggatgcttttgaacagtagagcgaaatgctagacatggagaatctgctctgtttgtcct c.*780
. . . . . . g.9138
ttatacatttctgtagttaacagaacactgtaatgtgccttggagcttagtaacttgtaa c.*840
. g.9157
taaattcaattgatattaa c.*859
(downstream sequence)
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