(used for variant description)
(last modified September 9, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_012188.4 in the FOXI1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012068.1, covering FOXI1 transcript NM_012188.4.
(upstream sequence)
. . . . g.5045
gggtgcaggtgccaggcaggtggctccggccagcccagccccagc c.-1
. . . . . . g.5105
ATGAGCTCCTTCGACCTGCCGGCGCCCTCCCCACCTCGCTGCAGCCCCCAGTTCCCCAGC c.60
M S S F D L P A P S P P R C S P Q F P S p.20
. . . . . . g.5165
ATCGGCCAGGAGCCCCCCGAGATGAACCTCTACTATGAGAACTTCTTCCACCCACAGGGC c.120
I G Q E P P E M N L Y Y E N F F H P Q G p.40
. . . . . . g.5225
GTGCCCAGCCCTCAGCGGCCCTCCTTCGAGGGGGGCGGCGAGTATGGGGCCACCCCCAAC c.180
V P S P Q R P S F E G G G E Y G A T P N p.60
. . . . . . g.5285
CCCTACCTCTGGTTCAACGGGCCCACCATGACCCCGCCACCCTACCTGCCCGGCCCCAAC c.240
P Y L W F N G P T M T P P P Y L P G P N p.80
. . . . . . g.5345
GCCAGCCCCTTCCTGCCCCAGGCCTATGGAGTGCAGAGGCCGCTGCTGCCCAGCGTGTCG c.300
A S P F L P Q A Y G V Q R P L L P S V S p.100
. . . . . . g.5405
GGGCTTGGGGGGAGCGACCTGGGCTGGCTGCCCATCCCCTCGCAGGAGGAGCTGATGAAG c.360
G L G G S D L G W L P I P S Q E E L M K p.120
. . . . . . g.5465
CTGGTGCGGCCACCCTATTCCTACTCGGCTCTCATCGCCATGGCCATCCACGGGGCACCC c.420
L V R P P Y S Y S A L I A M A I H G A P p.140
. . . . . . g.5525
GACAAGCGCCTCACTCTCAGCCAGATCTACCAGTACGTGGCCGACAACTTCCCCTTCTAC c.480
D K R L T L S Q I Y Q Y V A D N F P F Y p.160
. . . . . . g.5585
AACAAGAGCAAGGCCGGCTGGCAGAACTCCATCCGCCACAACCTGTCGCTCAACGACTGC c.540
N K S K A G W Q N S I R H N L S L N D C p.180
. . . | 02 . . . g.7162
TTCAAGAAGGTGCCCCGCGACGAGGACGACCCGG | GCAAAGGGAATTACTGGACCCTGGAC c.600
F K K V P R D E D D P G | K G N Y W T L D p.200
. . . . . . g.7222
CCCAACTGTGAGAAAATGTTCGACAATGGAAATTTCCGCAGGAAAAGGAAGAGAAAATCA c.660
P N C E K M F D N G N F R R K R K R K S p.220
. . . . . . g.7282
GATGTTTCCTCTAGCACAGCCTCCTTGGCCTTAGAGAAGACAGAGAGCAGTCTCCCGGTG c.720
D V S S S T A S L A L E K T E S S L P V p.240
. . . . . . g.7342
GACAGCCCCAAGACCACGGAGCCTCAGGACATCTTGGATGGAGCCTCACCAGGGGGCACC c.780
D S P K T T E P Q D I L D G A S P G G T p.260
. . . . . . g.7402
ACCAGCTCCCCAGAGAAGCGGCCCTCCCCTCCCCCATCAGGCGCCCCTTGCCTTAACAGC c.840
T S S P E K R P S P P P S G A P C L N S p.280
. . . . . . g.7462
TTCCTTTCCTCTATGACAGCCTATGTGAGCGGGGGGAGCCCCACGAGCCACCCCTTGGTC c.900
F L S S M T A Y V S G G S P T S H P L V p.300
. . . . . . g.7522
ACACCAGGACTGAGCCCTGAGCCCAGTGACAAGACGGGGCAGAACTCACTGACCTTCAAC c.960
T P G L S P E P S D K T G Q N S L T F N p.320
. . . . . . g.7582
TCCTTCTCCCCGCTCACCAACCTCAGCAACCACAGCGGTGGGGGTGACTGGGCGAACCCC c.1020
S F S P L T N L S N H S G G G D W A N P p.340
. . . . . . g.7642
ATGCCCACCAACATGCTCAGCTATGGAGGATCTGTGCTCAGCCAATTCAGCCCTCACTTC c.1080
M P T N M L S Y G G S V L S Q F S P H F p.360
. . . . . g.7699
TACAACAGTGTCAACACCAGTGGTGTCCTCTACCCCAGGGAGGGCACCGAGGTCTAG c.1137
Y N S V N T S G V L Y P R E G T E V X p.378
. . . . . . g.7759
gtacagaacagctcctgagccaggtggacatgccagagagaaaagcagtagaggtcctcc c.*60
. . . . . . g.7819
atgccagccccacggtggtccatgactgcggaactgcccagacataagcaggagcctccg c.*120
. . . . . . g.7879
aggaatccaccctctttctagaacactggttaaggcttctgtttatcacacataggccca c.*180
. . . . . . g.7939
cacacagactcaccaactttgcaatagaaatactggtgcctgcagagcagcactaacagt c.*240
. . . . . . g.7999
ggcaggtgctgtactaggctctgtactggccacacttactattgacagtcaccccgtaag c.*300
. . . . . . g.8059
gttcacaaaccaccccattgaacagatgaggaactgaggctcaaggaggttaagtaacat c.*360
. . . . . . g.8119
ttccagggttatataaactagtaaatggcagagctaagagtcaaatccaggtctatgtga c.*420
. . . . . . g.8179
tcctcagagattggaggccgggatggagaattggttgagtagccaaggaaggtcagtgtg c.*480
. . . . . . g.8239
aaaagcttgctatggcaaatatagcgaaatctctccactgccttctgtccaccaacattt c.*540
. . . . . . g.8299
agtgccagcctaggcacaacttgtcctggtccaagtccttattctgcttgccccaactta c.*600
. . . . . . g.8359
cctgcagacactccttttgctaccactcaaggaaggaagtcaccagtggccttagtgcag c.*660
. . . . . . g.8419
gaaactcagccctggtggccctgcagaacaatgcatctgacatgtgcgatgcatccccat c.*720
. . . . . . g.8479
ggagagacagcattgctccccagccctccagaaaccttgagcagatccagggatcagtga c.*780
. . . . . . g.8539
gaggagtggtgtgtacccctaaatcctcccaccccagcactgcccatctgtaaaatcttg c.*840
. . . . . . g.8599
taaagcccagtttcctgtgtgcatgtcatggaccagtgagctggagatggctgaatcttc c.*900
. . . . . . g.8659
caagagaaacaaggttggataagcgcttccttttttttagcccaggagaggtggatgttt c.*960
. . . . . . g.8719
gtctgagaaaacaatggcctcaagggaggggccttgggcccaccctcacagggggtctct c.*1020
. . . . . . g.8779
gtgtgatctcttgggatttctccttgtttttgtgagtacctgggaagtgttgtttgtttt c.*1080
. . . g.8813
cttattttctttttaattaaaaaacaaacaaaca c.*1114
(downstream sequence)
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