Visualization of regulatory element with DNMs in transcripts


Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.
Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000344610 [[65886247, 65886423], [65890985, 65891061], [66031228, 66031288], [66036155, 66036485], [66038008, 66038132], [66058339, 66058548], [66062130, 66062276], [66064342, 66064487], [66067074, 66067365], [66067525, 66067643], [66070720, 66070920], [66074435, 66074584], [66075629, 66075789], [66075896, 66075979], [66081690, 66081907], [66083646, 66083829], [66085610, 66085706], [66087035, 66087141], [66088588, 66088664], [66091805, 66091853]] [[66031248, 66031288], [66036155, 66036485], [66038008, 66038132], [66058339, 66058548], [66062130, 66062276], [66064342, 66064487], [66067074, 66067365], [66067525, 66067643], [66070720, 66070920], [66074435, 66074584], [66075629, 66075789], [66075896, 66075979], [66081690, 66081907], [66083646, 66083829], [66085610, 66085706], [66087035, 66087141], [66088588, 66088664], [66091805, 66091853]]
ENST00000371059 [[65886334, 65886423], [65890985, 65891061], [66031228, 66031288], [66036155, 66036485], [66038008, 66038132], [66058339, 66058548], [66062130, 66062276], [66064342, 66064487], [66067074, 66067365], [66067525, 66067643], [66070720, 66070920], [66074435, 66074584], [66075629, 66075789], [66075896, 66075979], [66081690, 66081907], [66083646, 66083829], [66085610, 66085706], [66087035, 66087141], [66088588, 66088664], [66095884, 66096105]] [[66031248, 66031288], [66036155, 66036485], [66038008, 66038132], [66058339, 66058548], [66062130, 66062276], [66064342, 66064487], [66067074, 66067365], [66067525, 66067643], [66070720, 66070920], [66074435, 66074584], [66075629, 66075789], [66075896, 66075979], [66081690, 66081907], [66083646, 66083829], [66085610, 66085706], [66087035, 66087141], [66088588, 66088664], [66095884, 66096088]]
ENST00000371060 [[65886334, 65886423], [65890985, 65891061], [66031228, 66031288], [66036155, 66036485], [66038008, 66038132], [66058339, 66058548], [66062130, 66062276], [66064342, 66064487], [66067074, 66067365], [66067525, 66067643], [66070720, 66070920], [66074435, 66074584], [66075629, 66075789], [66075896, 66075979], [66081690, 66081907], [66083646, 66083829], [66085610, 66085706], [66087035, 66087141], [66088588, 66088664], [66098834, 66101111]] [[66031248, 66031288], [66036155, 66036485], [66038008, 66038132], [66058339, 66058548], [66062130, 66062276], [66064342, 66064487], [66067074, 66067365], [66067525, 66067643], [66070720, 66070920], [66074435, 66074584], [66075629, 66075789], [66075896, 66075979], [66081690, 66081907], [66083646, 66083829], [66085610, 66085706], [66087035, 66087141], [66088588, 66088664], [66098834, 66098852]]
ENST00000349533 [[65886334, 65886423], [65890985, 65891061], [66031228, 66031288], [66036155, 66036485], [66038008, 66038132], [66058339, 66058548], [66062130, 66062276], [66064342, 66064487], [66067074, 66067365], [66067525, 66067643], [66070720, 66070920], [66074435, 66074584], [66075629, 66075789], [66075896, 66075979], [66081690, 66081907], [66083646, 66083829], [66085610, 66085706], [66087035, 66087141], [66088588, 66088664], [66101873, 66107242]] [[66031248, 66031288], [66036155, 66036485], [66038008, 66038132], [66058339, 66058548], [66062130, 66062276], [66064342, 66064487], [66067074, 66067365], [66067525, 66067643], [66070720, 66070920], [66074435, 66074584], [66075629, 66075789], [66075896, 66075979], [66081690, 66081907], [66083646, 66083829], [66085610, 66085706], [66087035, 66087141], [66088588, 66088664], [66101873, 66102698]]
ENST00000406510 [[65886402, 65886423], [65890985, 65891061], [66031228, 66031288], [66036155, 66036485], [66038008, 66038132], [66101873, 66102785]] [[66101999, 66102698]]
ENST00000462765 [[65991371, 65991501], [66031228, 66031288], [66036155, 66036485], [66038008, 66038132], [66058339, 66058548], [66062130, 66062276], [66064342, 66064487], [66067074, 66067365], [66067525, 66067643], [66070720, 66070920], [66074435, 66074584], [66075629, 66075789], [66075896, 66075951]] None
ENST00000371058 [[66031228, 66031288], [66036155, 66036485], [66038008, 66038132], [66058339, 66058548], [66062130, 66062276], [66064342, 66064487], [66067074, 66067365], [66067525, 66067643], [66070720, 66070920], [66074435, 66074584], [66075629, 66075789], [66075896, 66075979], [66081690, 66081907], [66083646, 66083829], [66085610, 66085706], [66087035, 66087141], [66088588, 66088664], [66091805, 66091917]] [[66031248, 66031288], [66036155, 66036485], [66038008, 66038132], [66058339, 66058548], [66062130, 66062276], [66064342, 66064487], [66067074, 66067365], [66067525, 66067643], [66070720, 66070920], [66074435, 66074584], [66075629, 66075789], [66075896, 66075979], [66081690, 66081907], [66083646, 66083829], [66085610, 66085706], [66087035, 66087141], [66088588, 66088664], [66091805, 66091853]]
ENST00000471762 [[66085622, 66085706], [66087035, 66087141], [66088588, 66089067]] None
NM_001003680 [[65886334, 65886423], [65890985, 65891061], [66031228, 66031288], [66036155, 66036485], [66038008, 66038132], [66058339, 66058548], [66062130, 66062276], [66064342, 66064487], [66067074, 66067365], [66067525, 66067643], [66070720, 66070920], [66074435, 66074584], [66075629, 66075789], [66075896, 66075979], [66081690, 66081907], [66083646, 66083829], [66085610, 66085706], [66087035, 66087141], [66088588, 66088664], [66095884, 66096105]] [[66031248, 66031288], [66036155, 66036485], [66038008, 66038132], [66058339, 66058548], [66062130, 66062276], [66064342, 66064487], [66067074, 66067365], [66067525, 66067643], [66070720, 66070920], [66074435, 66074584], [66075629, 66075789], [66075896, 66075979], [66081690, 66081907], [66083646, 66083829], [66085610, 66085706], [66087035, 66087141], [66088588, 66088664], [66095884, 66096088]]
NM_001003679 [[65886334, 65886423], [65890985, 65891061], [66031228, 66031288], [66036155, 66036485], [66038008, 66038132], [66058339, 66058548], [66062130, 66062276], [66064342, 66064487], [66067074, 66067365], [66067525, 66067643], [66070720, 66070920], [66074435, 66074584], [66075629, 66075789], [66075896, 66075979], [66081690, 66081907], [66083646, 66083829], [66085610, 66085706], [66087035, 66087141], [66088588, 66088664], [66098834, 66101111]] [[66031248, 66031288], [66036155, 66036485], [66038008, 66038132], [66058339, 66058548], [66062130, 66062276], [66064342, 66064487], [66067074, 66067365], [66067525, 66067643], [66070720, 66070920], [66074435, 66074584], [66075629, 66075789], [66075896, 66075979], [66081690, 66081907], [66083646, 66083829], [66085610, 66085706], [66087035, 66087141], [66088588, 66088664], [66098834, 66098852]]
NM_002303 [[65886334, 65886423], [65890985, 65891061], [66031228, 66031288], [66036155, 66036485], [66038008, 66038132], [66058339, 66058548], [66062130, 66062276], [66064342, 66064487], [66067074, 66067365], [66067525, 66067643], [66070720, 66070920], [66074435, 66074584], [66075629, 66075789], [66075896, 66075979], [66081690, 66081907], [66083646, 66083829], [66085610, 66085706], [66087035, 66087141], [66088588, 66088664], [66101873, 66103176]] [[66031248, 66031288], [66036155, 66036485], [66038008, 66038132], [66058339, 66058548], [66062130, 66062276], [66064342, 66064487], [66067074, 66067365], [66067525, 66067643], [66070720, 66070920], [66074435, 66074584], [66075629, 66075789], [66075896, 66075979], [66081690, 66081907], [66083646, 66083829], [66085610, 66085706], [66087035, 66087141], [66088588, 66088664], [66101873, 66102698]]
NM_001198688 [[65991371, 65991501], [66031228, 66031288], [66036155, 66036485], [66038008, 66038132], [66058339, 66058548], [66062130, 66062276], [66064342, 66064487], [66067074, 66067365], [66067525, 66067643], [66070720, 66070920], [66074435, 66074584], [66075629, 66075789], [66075896, 66075979], [66081690, 66081907], [66083646, 66083829], [66085610, 66085706], [66087035, 66087141], [66088588, 66088664], [66091805, 66091917]] [[66031248, 66031288], [66036155, 66036485], [66038008, 66038132], [66058339, 66058548], [66062130, 66062276], [66064342, 66064487], [66067074, 66067365], [66067525, 66067643], [66070720, 66070920], [66074435, 66074584], [66075629, 66075789], [66075896, 66075979], [66081690, 66081907], [66083646, 66083829], [66085610, 66085706], [66087035, 66087141], [66088588, 66088664], [66091805, 66091853]]
NM_001198687 [[65991371, 65991501], [66031228, 66031288], [66036155, 66036485], [66038008, 66038132], [66058339, 66058548], [66062130, 66062276], [66064342, 66064487], [66067074, 66067365], [66067525, 66067643], [66070720, 66070920], [66074435, 66074584], [66075629, 66075789], [66075896, 66075979], [66081690, 66081907], [66083646, 66083829], [66085610, 66085706], [66087035, 66087141], [66088588, 66088664], [66095884, 66096105]] [[66031248, 66031288], [66036155, 66036485], [66038008, 66038132], [66058339, 66058548], [66062130, 66062276], [66064342, 66064487], [66067074, 66067365], [66067525, 66067643], [66070720, 66070920], [66074435, 66074584], [66075629, 66075789], [66075896, 66075979], [66081690, 66081907], [66083646, 66083829], [66085610, 66085706], [66087035, 66087141], [66088588, 66088664], [66095884, 66096088]]
NM_001198689 [[65991371, 65991501], [66031228, 66031288], [66036155, 66036485], [66038008, 66038132], [66058339, 66058548], [66062130, 66062276], [66064342, 66064487], [66067074, 66067365], [66067525, 66067643], [66070720, 66070920], [66074435, 66074584], [66075629, 66075789], [66075896, 66075979], [66081690, 66081907], [66083646, 66083829], [66085610, 66085706], [66087035, 66087141], [66088588, 66088664], [66098834, 66101111]] [[66031248, 66031288], [66036155, 66036485], [66038008, 66038132], [66058339, 66058548], [66062130, 66062276], [66064342, 66064487], [66067074, 66067365], [66067525, 66067643], [66070720, 66070920], [66074435, 66074584], [66075629, 66075789], [66075896, 66075979], [66081690, 66081907], [66083646, 66083829], [66085610, 66085706], [66087035, 66087141], [66088588, 66088664], [66098834, 66098852]]
Promoter
Chrom Start End Description
chr1 65886229 65886243 CAGE_peak_4_at_LEPR_5end
chr1 65886244 65886250 CAGE_peak_7_at_LEPR_5end
chr1 65886317 65886320 CAGE_peak_4_at_LEPROT_5end,CAGE_peak_9_at_LEPR_5end
chr1 65886326 65886406 CAGE_peak_1_at_LEPROT_5end,CAGE_peak_1_at_LEPR_5end
chr1 65990881 65990916 CAGE_peak_5_at_LEPR_5end
chr1 65990922 65990927 CAGE_peak_12_at_LEPR_5end
chr1 65990933 65990946 CAGE_peak_8_at_LEPR_5end
chr1 65990980 65990985 CAGE_peak_13_at_LEPR_5end
chr1 65991026 65991079 CAGE_peak_3_at_LEPR_5end
chr1 65991183 65991188 CAGE_peak_14_at_LEPR_5end
chr1 65991226 65991233 CAGE_peak_11_at_LEPR_5end
chr1 65991296 65991320 CAGE_peak_6_at_LEPR_5end
chr1 65991324 65991417 CAGE_peak_2_at_LEPR_5end

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