(used for variant description)
(last modified April 29, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_017547.3 in the FOXRED1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_028029.1, covering FOXRED1 transcript NM_017547.3.
(upstream sequence)
. . . . g.5047
agaggtcacggggagacggccacctagagcattgggcggggcagagc c.-121
. . . . . . g.5107
cctgagggccgctggccaattggcgcgctcgtctgaatggcgtttggcgcggagcagtga c.-61
. . . . . . g.5167
cggctgcgataatagcgaggcagcagtgcagctttcagagggtccgggctcagaggggtt c.-1
. . . . . . g.5227
ATGATTCGGAGGGTTCTGCCGCACGGCATGGGCCGGGGCCTCTTGACCCGGAGGCCAGGC c.60
M I R R V L P H G M G R G L L T R R P G p.20
. . | 02 . . . . g.7432
ACGCGCAGAGGAGGCTTTTCTCTGG | ACTGGGATGGAAAGGTGTCTGAGATTAAGAAGAAG c.120
T R R G G F S L D | W D G K V S E I K K K p.40
. . . . . . g.7492
ATCAAGTCGATCCTGCCTGGAAGGTCCTGTGATCTACTGCAAGACACCAGCCACCTGCCT c.180
I K S I L P G R S C D L L Q D T S H L P p.60
. . . . . . g.7552
CCCGAGCACTCGGATGTGGTGATCGTGGGAGGTGGGGTGCTTGGCTTGTCTGTGGCCTAT c.240
P E H S D V V I V G G G V L G L S V A Y p.80
. . . . . . g.7612
TGGCTGAAGAAGCTGGAGAGCAGACGAGGTGCTATTCGAGTGCTAGTGGTGGAACGGGAC c.300
W L K K L E S R R G A I R V L V V E R D p.100
| 03 . . . . . . g.8983
CACACG | TATTCACAGGCCTCCACTGGGCTCTCAGTAGGTGGGATTTGTCAGCAGTTCTCA c.360
H T | Y S Q A S T G L S V G G I C Q Q F S p.120
. . . . . | 04. g.9299
TTGCCTGAGAACATCCAGCTCTCCCTCTTTTCAGCCAGCTTTCTACGGAACATCAAT | GAG c.420
L P E N I Q L S L F S A S F L R N I N | E p.140
. . . . . . g.9359
TACCTGGCCGTAGTCGATGCTCCTCCCCTGGACCTCCGGTTCAACCCCTCGGGCTACCTC c.480
Y L A V V D A P P L D L R F N P S G Y L p.160
. . . . . | 05 . g.10891
TTGCTGGCTTCAGAAAAGGATGCTGCAGCCATGGAGAGCAACGTGAAAGTGCAGAG | GCAG c.540
L L A S E K D A A A M E S N V K V Q R | Q p.180
. . . . . . g.10951
GAGGGAGCCAAAGTTTCTCTGATGTCTCCTGATCAGCTTCGGAACAAGTTTCCCTGGATA c.600
E G A K V S L M S P D Q L R N K F P W I p.200
. . . | 06 . . . g.11316
AACACAGAGGGAGTGGCTTTGGCGTCTTATG | GGATGGAGGACGAAGGTTGGTTTGACCCC c.660
N T E G V A L A S Y G | M E D E G W F D P p.220
. . . . . . g.11376
TGGTGTCTGCTCCAGGGGCTTCGGCGAAAGGTCCAGTCCTTGGGAGTCCTTTTCTGCCAG c.720
W C L L Q G L R R K V Q S L G V L F C Q p.240
. | 07 . . . . . g.11801
GGAGAGGTGACAC | GTTTTGTCTCTTCATCTCAACGCATGTTGACCACAGATGACAAAGCG c.780
G E V T R | F V S S S Q R M L T T D D K A p.260
. . . | 08 . . . g.12049
GTGGTCTTGAAAAGGATCCATGAAGTCCAT | GTGAAGATGGACCGCAGCCTGGAGTACCAG c.840
V V L K R I H E V H | V K M D R S L E Y Q p.280
. . . . . . g.12109
CCTGTGGAATGCGCCATTGTGATCAACGCAGCCGGAGCCTGGTCTGCGCAAATCGCAGCA c.900
P V E C A I V I N A A G A W S A Q I A A p.300
. . . . . . g.12169
CTGGCTGGTGTTGGAGAGGGGCCGCCTGGCACCCTGCAGGGCACCAAGCTACCTGTGGAG c.960
L A G V G E G P P G T L Q G T K L P V E p.320
. | 09 . . . . . g.12403
CCGAGGAAAAG | GTATGTGTATGTGTGGCACTGCCCCCAGGGACCAGGCCTAGAGACTCCG c.1020
P R K R | Y V Y V W H C P Q G P G L E T P p.340
. . . . . . g.12463
CTTGTTGCAGACACCAGTGGAGCCTATTTTCGCCGGGAAGGATTAGGTAGCAACTACCTA c.1080
L V A D T S G A Y F R R E G L G S N Y L p.360
. . | 10 . . . . g.13070
GGTGGTCGTAGCCCCACTGAG | CAGGAAGAACCGGACCCGGCGAACCTGGAAGTGGACCAT c.1140
G G R S P T E | Q E E P D P A N L E V D H p.380
. . . . . . g.13130
GATTTCTTCCAGGACAAGGTGTGGCCCCATTTGGCCCTGAGGGTCCCAGCTTTTGAGACT c.1200
D F F Q D K V W P H L A L R V P A F E T p.400
| 11 . . . . . . g.13449
CTGAAG | GTTCAGAGCGCCTGGGCCGGCTATTACGACTACAACACCTTTGACCAGAATGGC c.1260
L K | V Q S A W A G Y Y D Y N T F D Q N G p.420
. . . . . . g.13509
GTGGTGGGCCCCCACCCGCTAGTTGTCAACATGTACTTTGCTACTGGCTTCAGTGGTCAC c.1320
V V G P H P L V V N M Y F A T G F S G H p.440
. . . . . . g.13569
GGGCTCCAGCAGGCCCCTGGCATTGGGCGAGCTGTAGCAGAGATGGTACTGAAGGGCAGG c.1380
G L Q Q A P G I G R A V A E M V L K G R p.460
. . . . . . g.13629
TTCCAGACCATCGACCTGAGCCCCTTCCTCTTTACCCGCTTTTACTTGGGAGAGAAGATC c.1440
F Q T I D L S P F L F T R F Y L G E K I p.480
. . g.13650
CAGGAGAACAACATCATCTGA c.1461
Q E N N I I X p.486
. . . . . . g.13710
gcatgtgtgctctgcactggctccactggcttgcatcctggctgtgttcacagccttgtt c.*60
. . . . . . g.13770
tgctgcttccatcttccccagtactgtgccaggccttctccccctccccagtgtcctctc c.*120
. . . . . . g.13830
ctctcaggcaggccattgcacccatatggctgggcaggcacaggcagtgaggccgaggcc c.*180
. . . . . . g.13890
aatagcgagtgatgagcgggatcctaggactgatctgtagcccatgctgatgtcacccac c.*240
. . . . . . g.13950
cagggcaatccatctggaggcctgagcaccctggcccaggactggcttcatcctggcact c.*300
. . . . . . g.14010
gaccaggaaagactgcctctgaccctcttagcagacagagcccaggcatgggagcactct c.*360
. . . . . . g.14070
ggggcagcctggctcaggtttattgattttcgtctgtttaccctatccattaatcaatac c.*420
. . g.14093
atgtaattaactccttccctcca c.*443
(downstream sequence)
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