(used for variant description)
(last modified August 28, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_017583.4 in the TRIM44 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering TRIM44 transcript NM_017583.4.(upstream sequence) g.5007 ggaggct c.-301 . . . . . . g.5067 gagcgggcggcgcgacgcgggggccgacgggggcgccgggtggccgcgccggaagtgcct c.-241 . . . . . . g.5127 tgcgcggcagaggaagcgcagggacagagcggagcaggccgagccggcggaaagggtctt c.-181 . . . . . . g.5187 tgctgctgcgcccgggcaggggctgccgcggccccaggtcccgcttcgagacgcggcgcg c.-121 . . . . . . g.5247 gtccaggcgggaggcgactccctaggaagggacccggggcgggaggaggaagtgaggccg c.-61 . . . . . . g.5307 cgcggaaggaaggcggcgagccccggggccccgaggccttggccgcgtcacagcacccac c.-1 . . . . . . g.5367 ATGGCCTCTGGAGTGGGCGCGGCCTTCGAGGAACTGCCTCACGACGGCACGTGTGACGAG c.60 M A S G V G A A F E E L P H D G T C D E p.20 . . . . . . g.5427 TGCGAGCCCGACGAGGCTCCGGGGGCCGAGGAAGTGTGCCGAGAATGCGGCTTCTGCTAC c.120 C E P D E A P G A E E V C R E C G F C Y p.40 . . . . . . g.5487 TGCCGCCGCCATGCCGAGGCGCACAGGCAGAAGTTCCTCAGTCACCATCTGGCCGAATAC c.180 C R R H A E A H R Q K F L S H H L A E Y p.60 . . . . . . g.5547 GTCCACGGCTCCCAGGCCTGGACCCCGCCAGCTGACGGAGAGGGGGCGGGGAAGGAAGAA c.240 V H G S Q A W T P P A D G E G A G K E E p.80 . . . . . . g.5607 GCGGAGGTCAAGGTGGAGCAGGAGAGGGAGATAGAAAGCGAGGCAGGGGAAGAGAGTGAG c.300 A E V K V E Q E R E I E S E A G E E S E p.100 . . . . . . g.5667 TCGGAGGAAGAGAGCGAGTCAGAGGAAGAGAGCGAGACAGAGGAAGAGAGTGAGGATGAG c.360 S E E E S E S E E E S E T E E E S E D E p.120 . . . . . . g.5727 AGCGATGAGGAGAGTGAAGAAGACAGCGAGGAAGAAATGGAGGATGAGCAAGAAAGCGAG c.420 S D E E S E E D S E E E M E D E Q E S E p.140 . . . . . . g.5787 GCCGAAGAAGACAACCAAGAAGAAGGGGAATCCGAGGCGGAGGGAGAAACTGAGGCAGAA c.480 A E E D N Q E E G E S E A E G E T E A E p.160 . . . . . . g.5847 AGTGAATTTGACCCAGAAATAGAAATGGAAGCAGAGAGAGTGGCCAAGAGGAAGTGTCCG c.540 S E F D P E I E M E A E R V A K R K C P p.180 . . . . . . g.5907 GACCATGGGCTTGATTTGAGTACCTATTGCCAGGAAGATAGGCAGCTCATCTGTGTCCTG c.600 D H G L D L S T Y C Q E D R Q L I C V L p.200 . . . . . . g.5967 TGTCCAGTCATTGGGGCTCACCAGGGCCACCAACTCTCCACCCTAGACGAAGCCTTTGAA c.660 C P V I G A H Q G H Q L S T L D E A F E p.220 | 02 . . . . . g.27505 GAATTAAGA | AGCAAAGACTCAGGTGGACTGAAGGCCGCTATGATCGAATTGGTGGAAAGG c.720 E L R | S K D S G G L K A A M I E L V E R p.240 . . | 03. . . . g.68152 TTGAAGTTCAAGAGCTCAGACCCTAAA | GTAACTCGGGACCAAATGAAGATGTTTATACAG c.780 L K F K S S D P K | V T R D Q M K M F I Q p.260 . . . . . . g.68212 CAGGAATTTAAGAAAGTTCAGAAAGTGATTGCTGATGAGGAGCAGAAGGCCCTTCATCTA c.840 Q E F K K V Q K V I A D E E Q K A L H L p.280 . . . . . . g.68272 GTGGACATCCAAGAGGCAATGGCCACAGCTCATGTGACTGAGATACTGGCAGACATCCAA c.900 V D I Q E A M A T A H V T E I L A D I Q p.300 . . . . . . g.68332 TCCCACATGGATAGGTTGATGACTCAGATGGCCCAAGCCAAGGAACAACTTGATACCTCT c.960 S H M D R L M T Q M A Q A K E Q L D T S p.320 . . | 04. . | 05. . g.148568 AATGAATCAGCTGAGCCAAAGGCAGAG | GGCGATGAGGAAGGACCCAG | TGGTGCCAGTGAA c.1020 N E S A E P K A E | G D E E G P S | G A S E p.340 . g.148583 GAAGAGGACACATGA c.1035 E E D T X p.344 . . . . . . g.148643 aggcttgctacccccagtggaaaatcatcccctccccttgtgtgtatgtgacagcgtgta c.*60 . . . . . . g.148703 tgtaacggcttctgatttctgtgaaagctgctcagcaacaaacgtacttccaccagatgt c.*120 . . . . . . g.148763 gtccccagatccacagcaggcacatatctctccaagggatgaccagttttatgcttactg c.*180 . . . . . . g.148823 tgtgcttctcatcccctggttgtggtaggtcaaggaaaagagcccctttgatccaccagg c.*240 . . . . . . g.148883 agcaattaagaaaggtccttcaggtaatccctcaatggctgctttgaacttactcaggaa c.*300 . . . . . . g.148943 agccagcccccataatattgtattaccaaacagtatcgctttgttaggaaggatctggaa c.*360 . . . . . . g.149003 taatcttgaagggaagtcagagttttctccctgcctattaacaaaaacccaattttgttc c.*420 . . . . . . g.149063 atattgaagcatgaaataaatgagagcaaggtagggccaaattaactcttgtggacagtc c.*480 . . . . . . g.149123 cctaaaagtccagttctacatttgtgaaaattgtggtgccatgaattaagatggatgact c.*540 . . . . . . g.149183 ggaaaaaggtgttggagaaagagttaaagatgaggaagagatatttttagtatatgaagt c.*600 . . . . . . g.149243 tatccaggacttgatattcataattcagtgctgtggaaatgaaaaaaatgattgaagagg c.*660 . . . . . . g.149303 tggaacggaaatgaccttagggggaaaaaaaaggaccaaagaagtctgattaaaagttga c.*720 . . . . . . g.149363 aatcagtatttctgaattcaaattgcttgaatttccaaaatagtcagtaaaggatctaat c.*780 . . . . . . g.149423 agaaccagaattatttgggtgaattctgcaggttttatgggcttgtcacaacgtgaaggg c.*840 . . . . . . g.149483 ctggaatgtatattaccaaatgggaatttccattgtaggtttttgctagtcccaccccca c.*900 . . . . . . g.149543 ttttagcctaatttggcttaaacgcagtatggggagaattgttcccattccatgtgttct c.*960 . . . . . . g.149603 gaattcagctcatctcccagcatatagatatatcctcctttaactccgaccagaaccctt c.*1020 . . . . . . g.149663 cttcctgtggcactccccacccatagaccttcagatcatctcccacaccctggatctcac c.*1080 . . . . . . g.149723 tctcctcttagtaacagagacactcctgaggttggacttccttgcttttctctacttcca c.*1140 . . . . . . g.149783 aatcacaatttcttacaaccaagctttgtgctcccgagtaagcagggatgtactagggga c.*1200 . . . . . . g.149843 atgtaaaactgcaaacttaaaaacctgcatcttcttgaagcatcagttttacttaccaaa c.*1260 . . . . . . g.149903 tggtttagagtcataagatgacctatttttatataaaagttatattatagaataaaatgt c.*1320 . . . . . . g.149963 tcatacgcatagactgttaagataaaaaaataggaatcttgcaaggtaattcttatttgc c.*1380 . . . . . . g.150023 aagtgggttatgtgttcactctcctctacctttatggtattttggtgttcacttacgaag c.*1440 . . . . . . g.150083 catacaactagaaccatatccaagcagactctgggttgctgttaacccagggcctagact c.*1500 . . . . . . g.150143 tctagtgcctctgaggcagaaccaaaggagcctgcactgggggaaatcccttttcctgcc c.*1560 . . . . . . g.150203 tgcctgtctgcctgtgacctgtgtacgtattacaggctttaggaccagctgattgttatg c.*1620 . . . . . . g.150263 cttgcaggatggttttgaaacagaaacaatacttgtttactgtaggaatcctatttatat c.*1680 . . . . . . g.150323 tatttttcagtcctgtgaatgctgtgaaaagatttattcctttgaggccaggaagctccc c.*1740 . . . . . . g.150383 aggcatatatgcttctaggttaggattgtcctgactcactaaagatgccaggatattggg c.*1800 . . . . . . g.150443 gctgaggggagtttgaggtgttaaaaaaaaaaaaaaaaaagcatttttctctcaaactga c.*1860 . . . . . . g.150503 tggccaagaaatggctaggacaattttggtgctttacctatctctgcaaagactggagaa c.*1920 . . . . . . g.150563 tttggcataccattaattacaaccaccaatcatatccaacaaaagtaccctaaaagaagg c.*1980 . . . . . . g.150623 accagtggccactctcgaaaaaatttaagtatcagaagattaaaaagattttaggatttg c.*2040 . . . . . . g.150683 gaagcttgtattgtctttccccaataatcattgtttgatctccaaatagtagccttatat c.*2100 . . . . . . g.150743 tagcaatagacagatcattggttctccatatctgatcatatgttactactttgaatcagt c.*2160 . . . . . . g.150803 atttgggaaattcaagcatttatgcagtggatataaatggaaatataaaaatatttgcca c.*2220 . . . . . . g.150863 acctgtctcagtaacttatcatatctctgtgatcctcaaggaaagcacttttgcttttac c.*2280 . . . . . . g.150923 ttagaaagcgtttcagatttgctttatagactcctgctgtcttcagtacctgataaaact c.*2340 . . . . . . g.150983 ttaaccagggaagcattaaacacagtgcagcagcttttgcccaggcttctaagttcctgc c.*2400 . . . . . . g.151043 cggcagcatttatcaatgtaagaactaggatgcttcctgcagtggcactaccttccccta c.*2460 . . . . . . g.151103 gagctggagcatgctgcttggccttaagccccagcatgatgaggcttccctcctgccagg c.*2520 . . . . . . g.151163 tcagtaaaagttagagagctcagaattgggtcttgcctgggtgcaggtggcagggtttgc c.*2580 . . . . . . g.151223 tgaaacccctaaagagaagtcaccaagggaggcaggtaatgaatgtttccagaatcagtc c.*2640 . . . . . . g.151283 ggatactcatagcaatttctggctatctttcaaatgttgaatttctggatgctgagaggg c.*2700 . . . . . . g.151343 actttgatttgatatcattaaatccaggacagtcccaagaagtgcttggagtctcggctc c.*2760 . . . . . . g.151403 tgacagcccaagaagggaaataacttgtattaaggaacaactatgagccaggccctgagc c.*2820 . . . . . . g.151463 tgtctcttagataataaaacagatggggagtggaagagtcatttgcttcaagttatacag c.*2880 . . . . . . g.151523 ctaggaaatactcaagccaaatcttgaacgcagctccccctaattctgtggacaggcact c.*2940 . . . . . g.151578 ttgtaccacacaccatggtccacctaaaaacagaaggataaaaagacttcaggtt c.*2995 (downstream sequence)Legend:
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