(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the IRF8 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering IRF8 transcript NM_002163.2.
(upstream sequence)
. . . . . | 02 g.4848
agcgcggcagcaagcgtgggaacgcgggcggcgagacggcggcaggacggcggcag | g c.-1
. . . . . . g.4908
ATGTGTGACCGGAATGGTGGTCGGCGGCTTCGACAGTGGCTGATCGAGCAGATTGACAGT c.60
M C D R N G G R R L R Q W L I E Q I D S p.20
. . . . . . g.4968
AGCATGTATCCAGGACTGATTTGGGAGAATGAGGAGAAGAGCATGTTCCGGATCCCTTGG c.120
S M Y P G L I W E N E E K S M F R I P W p.40
. . . . . | 03 . g.10828
AAACACGCTGGCAAGCAAGATTATAATCAGGAAGTGGATGCCTCCATTTTTAAG | GCCTGG c.180
K H A G K Q D Y N Q E V D A S I F K | A W p.60
. . . . . . g.10888
GCAGTTTTTAAAGGGAAGTTTAAAGAAGGGGACAAAGCTGAACCAGCCACTTGGAAGACG c.240
A V F K G K F K E G D K A E P A T W K T p.80
. . . . . . g.10948
AGGTTACGCTGTGCTTTGAATAAGAGCCCAGATTTTGAGGAAGTGACGGACCGGTCCCAA c.300
R L R C A L N K S P D F E E V T D R S Q p.100
. . . . . | 04 g.13404
CTGGACATTTCCGAGCCATACAAAGTTTACCGAATTGTTCCTGAGGAAGAGCAAAAAT | GC c.360
L D I S E P Y K V Y R I V P E E E Q K C | p.120
. . . . . . g.13464
AAACTAGGCGTGGCAACTGCTGGCTGCGTGAATGAAGTTACAGAGATGGAGTGCGGTCGC c.420
K L G V A T A G C V N E V T E M E C G R p.140
. . | 05. . . . g.14996
TCTGAAATCGACGAGCTGATCAAGGAG | CCTTCTGTGGACGATTACATGGGGATGATCAAA c.480
S E I D E L I K E | P S V D D Y M G M I K p.160
. . . . . . g.15056
AGGAGCCCTTCCCCGCCGGAGGCCTGTCGGAGTCAGCTCCTTCCAGACTGGTGGGCGCAG c.540
R S P S P P E A C R S Q L L P D W W A Q p.180
. | 06 . . . . . g.16352
CAGCCCAGCACAG | GCGTGCCGCTGGTGACGGGGTACACCACCTACGACGCGCACCATTCA c.600
Q P S T G | V P L V T G Y T T Y D A H H S p.200
| 07 . . . . . . g.20308
G | CATTCTCCCAGATGGTGATCAGCTTCTACTATGGGGGCAAGCTGGTGGGCCAGGCCACC c.660
A | F S Q M V I S F Y Y G G K L V G Q A T p.220
. . . . . . g.20368
ACCACCTGCCCCGAGGGCTGCCGCCTGTCCCTGAGCCAGCCTGGGCTGCCCGGCACCAAG c.720
T T C P E G C R L S L S Q P G L P G T K p.240
. . . . . . g.20428
CTGTATGGGCCCGAGGGCCTGGAGCTGGTGCGCTTCCCGCCGGCCGACGCCATCCCCAGC c.780
L Y G P E G L E L V R F P P A D A I P S p.260
. . . . . . g.20488
GAGCGACAGAGGCAGGTGACGCGGAAGCTGTTCGGGCACCTGGAGCGCGGGGTGCTGCTG c.840
E R Q R Q V T R K L F G H L E R G V L L p.280
. . . . . . g.20548
CACAGCAGCCGGCAGGGCGTGTTCGTCAAGCGGCTGTGCCAGGGCCGCGTGTTCTGCAGC c.900
H S S R Q G V F V K R L C Q G R V F C S p.300
. . . . . . g.20608
GGCAACGCCGTGGTGTGCAAAGGCAGGCCCAACAAGCTGGAGCGTGATGAGGTGGTCCAG c.960
G N A V V C K G R P N K L E R D E V V Q p.320
. . | 08 . . . g.21973
GTCTTCGACACCAGCCAGTTCTTCCGAG | AGCTGCAGCAGTTCTATAACAGCCAGGGCCGG c.1020
V F D T S Q F F R E | L Q Q F Y N S Q G R p.340
. . . . . . g.22033
CTTCCTGACGGCAGGGTGGTGCTGTGCTTTGGGGAAGAGTTTCCGGATATGGCCCCCTTG c.1080
L P D G R V V L C F G E E F P D M A P L p.360
. . | 09 . . . . g.22974
CGCTCCAAACTCATTCTCGTGCAG | ATTGAGCAGCTGTATGTCCGGCAACTGGCAGAAGAG c.1140
R S K L I L V Q | I E Q L Y V R Q L A E E p.380
. . . . . . g.23034
GCTGGGAAGAGCTGTGGAGCCGGCTCTGTGATGCAGGCCCCCGAGGAGCCGCCGCCAGAC c.1200
A G K S C G A G S V M Q A P E E P P P D p.400
. . . . . . g.23094
CAGGTCTTCCGGATGTTTCCAGATATTTGTGCCTCACACCAGAGATCATTTTTCAGAGAA c.1260
Q V F R M F P D I C A S H Q R S F F R E p.420
. . g.23115
AACCAACAGATCACCGTCTAA c.1281
N Q Q I T V X p.426
. . . . . . g.23175
gtgcgtcgcttgggcgccccaccccgtctgcgtcctgcatccatctccctgttacagtgg c.*60
. . . . . . g.23235
cccgcatcatgattaaagaatgtggatccctctgtctggggtgggatgccttactttgca c.*120
. . . . . . g.23295
cttaatttaataagggcattctcggaggagtagacgtttaatacgaagtggcggcatagc c.*180
. . . . . . g.23355
cctgccgagatgtcggtgatggcctggatgctgtaaccacaacctgtggctaaaaatttt c.*240
. . . . . . g.23415
attttctatcctttacccgtcattatcattagttgctatgattctttctgcattttcggt c.*300
. . . . . . g.23475
taactatcatttccaaagacttgtcattcagtaatattagcagatagctgcttcgataaa c.*360
. . . . . . g.23535
ggaatttggagtttaaaaatcaacttgtgaaaacaaggttgtttttgtctttatcgtttg c.*420
. . . . . . g.23595
ttagagttatagatttatgatttcataggcttgattctatgtgaaatatctttttacttt c.*480
. . . . . . g.23655
tatgcattttaataagatttaaaaatatttagattaaagccccctttaatgagtacaaga c.*540
. . . . . . g.23715
aaaactcttggcttgttagaagaaagtatattctttctagaatttggtgcaggaatatgt c.*600
. . . . . . g.23775
gttcatatccaggcaaacgggtgtgtttttatcttcagacaatgaaaccttctcctctgg c.*660
. . . . . . g.23835
ggctttgttgccaggaagattagaactaaatttatttttttcatttctgtcatgaaatca c.*720
. . . . . . g.23895
ttccagatacctcttttcttctttccaaatggttttcacatgtgtttgaaatatttgtac c.*780
. . . . . . g.23955
ttcgaattgtcggattttccatgtcctcctttctcctttgtgcccagcctgagtcagcac c.*840
. . . . . . g.24015
caatcccgcattcagaacctcccagtgaaagggcagccttcattttgagaaggtggaagg c.*900
. . . . . . g.24075
tgttagggtttgggagacagctcatccaatctcccaagtctcatggtggatttgtgactg c.*960
. . . . . . g.24135
tgagagtttccggtttaaaatctgaaaagccagatatgcctgtttccttttcccagcacc c.*1020
. . . . . . g.24195
atgcctgtggaggggacagtcagacccagaggtcctttacgtgtggatggagttcacagg c.*1080
. . . . . . g.24255
cgaatagaggagaggaccaggggacgtggcttgtcccttttgtccaacaaagcattatat c.*1140
. . . . . . g.24315
ttttaagaatggcagacctgtttgctgaagtgttcataagataacaataggcttgaatct c.*1200
. . . . . . g.24375
ccaattcaaatgaatgtcaaagcacatatctttaatatgctgaatgaatatttatttttg c.*1260
. . . . . . g.24435
tatccattaaaacagtatattgatctcttttattctttattaaaataaaatgctcttttt c.*1320
g.24439
taaa c.*1324
(downstream sequence)
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