(used for variant description)
(last modified July 20, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_012280.2 in the FTSJ1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008879.1, covering FTSJ1 transcript NM_012280.2.
(upstream sequence)
. . g.5023
ggatacgtcgacaatagatgacg c.-301
. . . . . . g.5083
gggctcacgttgtacgttcacatcaggtcccggcccgccggaacctgggcgatccacgat c.-241
. . . . . . g.5143
gccgagtttgccacgctgcgacagcccataggcttgcccccccgggcattcgggtggact c.-181
. . . . . . g.5203
acgaacacaaactgaagccctaggacttgtcgcccgtttgcgctctcgccgaggcacagg c.-121
. . . . | 02 . . g.6827
ctgctcgcggaccaccctgctccgaaaactaag | aggtaggtggtagcccattcatctggt c.-61
. . . . . . g.6887
tactgatactggccggcatcagtggactgtcggcaggtccttgagcaactggtgtgtgaa c.-1
. . . . . . g.6947
ATGGGACGGACGTCAAAGGACAAGCGGGATGTCTACTACCGCCTGGCCAAGGAGAATGGC c.60
M G R T S K D K R D V Y Y R L A K E N G p.20
. . . . . . g.7007
TGGCGTGCTCGCAGCGCCTTCAAACTGCTACAACTGGATAAGGAATTCCAACTCTTCCAA c.120
W R A R S A F K L L Q L D K E F Q L F Q p.40
| 03 . . . . . . g.7347
G | GCGTGACACGGGCAGTTGACCTGTGTGCAGCCCCAGGCAGCTGGAGCCAGGTGCTGAGC c.180
G | V T R A V D L C A A P G S W S Q V L S p.60
. | 04 . . . . . g.7505
CAGAAGATCGG | GGGCCAAGGGTCCGGCCACGTGGTGGCTGTGGACCTGCAGGCTATGGCT c.240
Q K I G | G Q G S G H V V A V D L Q A M A p.80
. . . . | 05 . . g.7895
CCACTACCAGGTGTGGTACAGATCCAGGGGGACATCACCCAG | CTGTCCACTGCCAAGGAG c.300
P L P G V V Q I Q G D I T Q | L S T A K E p.100
. . . . . . g.7955
ATCATCCAGCACTTTAAGGGCTGCCCTGCGGACCTAGTGGTGTGTGACGGGGCTCCTGAT c.360
I I Q H F K G C P A D L V V C D G A P D p.120
| 06 . . . . . | 07 . g.10134
G | TAACCGGTCTCCATGATGTTGATGAGTATATGCAGGCCCAGCTCCTCCTAGCT | GCTCTG c.420
V | T G L H D V D E Y M Q A Q L L L A | A L p.140
. . . . | 08 . g.10277
AACATTGCTACACATGTCCTGAAGCCAGGGGGCTGCTTTGTGGCCAAG | ATATTCCGAGGC c.480
N I A T H V L K P G G C F V A K | I F R G p.160
. . . . . . g.10337
CGGGATGTGACGCTCCTCTACAGCCAGCTGCAGGTCTTCTTCTCCAGCGTGCTGTGTGCC c.540
R D V T L L Y S Q L Q V F F S S V L C A p.180
. . . | 09 . . . g.10500
AAGCCCAGGAGCAGCCGGAACTCTAGCATCG | AGGCCTTCGCTGTCTGTCAGGGCTATGAC c.600
K P R S S R N S S I E | A F A V C Q G Y D p.200
. . . . . | 10 . g.11247
CCTCCCGAGGGCTTCATCCCGGACCTGAGCAAACCCCTGCTGGACCATTCTTACG | ACCCA c.660
P P E G F I P D L S K P L L D H S Y D | P p.220
. . . . . . g.11307
GATTTCAACCAGCTGGATGGTCCCACCCGCATCATTGTGCCTTTTGTGACCTGTGGGGAC c.720
D F N Q L D G P T R I I V P F V T C G D p.240
. . . | 11 . . g.11457
CTGAGCTCCTATGATTCGGACCGCAGTTACCCACTGGAC | CTAGAGGGCGGCTCAGAGTAC c.780
L S S Y D S D R S Y P L D | L E G G S E Y p.260
. . . . . . g.11517
AAGTACACTCCACCCACACAGCCCCCCATCTCGCCACCATACCAGGAGGCCTGCACGTTG c.840
K Y T P P T Q P P I S P P Y Q E A C T L p.280
. . . . . . g.11577
AAGAGGAAGGGGCAGCTGGCCAAGGAGATCCGCCCCCAGGACTGCCCCATCAGCAGAGTG c.900
K R K G Q L A K E I R P Q D C P I S R V p.300
. . . . . | 12. g.11828
GACACGTTTCCCCAGCCCCTGGCCGCCCCTCAGTGCCACACCCTGCTGGCCCCTGAG | ATG c.960
D T F P Q P L A A P Q C H T L L A P E | M p.320
. . . g.11858
GAAGACAATGAAATGAGTTGTTCACCTTAA | c.991
E D N E M S C S P X p.329
| 13 . . . . . g.14626
cccattacg | ctggcaaactgatacaactcagaaactgctcaatgtcaggaaaaccggaac c.*60
. . . . . . g.14686
ttgttgatgaacttgttttcaaaatatcatctcatcaacgaggcctggacaaacaagccc c.*120
. . . . . . g.14746
tgaggagggatctgcaacaaccctgaagacaacaaggaaagaaaccatgaaagtctgtct c.*180
. . . . . . g.14806
gtactgcagtgggaattcttgagtgaggtcttacctcttctttaaacctcttcaggagtg c.*240
. . . . . . g.14866
tcctgattatgtccagaattttccctaaaggcagggattcttaacctggatagaagccag c.*300
. . . . . . g.14926
gggtaaccatgaacttgatggaagaaaatgttacatctttattttcagcaatgaaactga c.*360
. . . . . . g.14986
aatttagccttactcccaagttataaatgctggcaacaaatcacagtagtaaaagcagta c.*420
. . . . . . g.15046
cctgggattttcccaccaatacaaaccagttacagcaactgtaatgtaacataaaaaggg c.*480
. . . . . . g.15106
catcttgaagtattgttcatatttgtcacctcttggaatgatagcagatcctgtaagttg c.*540
. . . . . . g.15166
atgtattaattaaaaagcccatatattactgcatctcaattttgtttcaatttaatatat c.*600
. . . g.15204
agtaataattgtaattcaatgtaattggcttccattgt c.*638
(downstream sequence)
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