(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)Legend:
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