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
ENST00000556810 [[56955071, 56955310], [56958050, 56958299], [57051718, 57051750], [57052478, 57052620]] [[56958250, 56958299], [57051718, 57051750], [57052478, 57052620]]
ENST00000556422 [[57046337, 57046391], [57051718, 57051750], [57052478, 57052630], [57070532, 57070710], [57072287, 57072401], [57075823, 57076003], [57078962, 57079003], [57082661, 57082745], [57083900, 57084015], [57085311, 57085481], [57092099, 57092248], [57099712, 57099889], [57101616, 57101670], [57103225, 57103316], [57113960, 57116233]] [[57070656, 57070710], [57072287, 57072401], [57075823, 57076003], [57078962, 57079003], [57082661, 57082745], [57083900, 57084015], [57085311, 57085481], [57092099, 57092103]]
ENST00000261556 [[57046510, 57046792], [57051718, 57051750], [57052478, 57052630], [57070532, 57070710], [57072287, 57072401], [57075823, 57076003], [57078962, 57079003], [57082661, 57082745], [57083900, 57084015], [57085311, 57085481], [57088248, 57088420], [57092099, 57092248], [57099712, 57099889], [57101616, 57101670], [57103225, 57103316], [57113960, 57116233]] [[57046632, 57046792], [57051718, 57051750], [57052478, 57052630], [57070532, 57070710], [57072287, 57072401], [57075823, 57076003], [57078962, 57079003], [57082661, 57082745], [57083900, 57084015], [57085311, 57085481], [57088248, 57088420], [57092099, 57092248], [57099712, 57099889], [57101616, 57101670], [57103225, 57103316], [57113960, 57114215]]
ENST00000557657 [[57046542, 57046792], [57051718, 57051750], [57052478, 57052630], [57070532, 57070710], [57072287, 57072401], [57075823, 57076003], [57078962, 57080628]] None
ENST00000556975 [[57046543, 57046792], [57051718, 57051750], [57052478, 57052630], [57059832, 57059942]] None
ENST00000555497 [[57046543, 57046792], [57051718, 57051750], [57052478, 57052630], [57072287, 57072401], [57075823, 57076003], [57078962, 57079003], [57082661, 57082745], [57083900, 57084015], [57085311, 57085481], [57092099, 57092248], [57099712, 57099889], [57101616, 57101670], [57103225, 57103316], [57113960, 57114570]] [[57046632, 57046792], [57051718, 57051750], [57052478, 57052630], [57072287, 57072291]]
ENST00000536419 [[57046543, 57046792], [57051718, 57051750], [57052478, 57052630], [57072287, 57072401], [57075823, 57076003], [57078962, 57079003], [57082661, 57082745], [57083900, 57084015], [57085311, 57085481], [57092099, 57092248], [57099712, 57099889], [57101616, 57101670], [57103225, 57103316], [57113960, 57114570]] [[57092099, 57092248], [57099712, 57099889], [57101616, 57101670], [57103225, 57103316], [57113960, 57114215]]
ENST00000557626 [[57046548, 57046792], [57051718, 57051750], [57052478, 57052630], [57070532, 57070710], [57072287, 57072401], [57075823, 57076003], [57078962, 57079003], [57082661, 57082982]] None
ENST00000539559 [[57046558, 57046792], [57051718, 57051750], [57052478, 57052630], [57070532, 57070710], [57072287, 57072401], [57075823, 57076003], [57078962, 57079003], [57082661, 57082745], [57085311, 57085481], [57088248, 57088420], [57092099, 57092248], [57099712, 57099889], [57101616, 57101670], [57103225, 57103316], [57113960, 57114812]] [[57046632, 57046792], [57051718, 57051750], [57052478, 57052630], [57070532, 57070710], [57072287, 57072401], [57075823, 57076003], [57078962, 57079003], [57082661, 57082745], [57085311, 57085345]]
ENST00000538838 [[57046601, 57046792], [57051718, 57051750], [57052478, 57052630], [57070532, 57070710], [57072287, 57072401], [57075823, 57076003], [57078962, 57079003], [57082661, 57082745], [57083900, 57084015], [57085311, 57085481], [57092099, 57092248], [57099712, 57099889], [57101616, 57101671]] [[57046632, 57046792], [57051718, 57051750], [57052478, 57052630], [57070532, 57070710], [57072287, 57072401], [57075823, 57076003], [57078962, 57079003], [57082661, 57082745], [57083900, 57084015], [57085311, 57085481], [57092099, 57092103]]
ENST00000556079 [[57052410, 57052630], [57070532, 57070710], [57072287, 57072401], [57075823, 57075907]] None
ENST00000554981 [[57052411, 57052630], [57059832, 57060035], [57070532, 57070659]] None
ENST00000556929 [[57052572, 57052630], [57072287, 57072401], [57075823, 57076003], [57078962, 57079003], [57082661, 57082745], [57085311, 57085381]] [[57052572, 57052630], [57072287, 57072291]]
ENST00000555905 [[57075858, 57076003], [57078962, 57079003], [57082661, 57082745], [57085311, 57085481], [57092099, 57092248], [57099712, 57099889]] [[57075858, 57076003], [57078962, 57079003], [57082661, 57082745], [57085311, 57085345]]
ENST00000553335 [[57075962, 57076003], [57078962, 57079003], [57082661, 57082745], [57083900, 57084015], [57085311, 57085481], [57086075, 57086184]] None
ENST00000556648 [[57082168, 57082745], [57083900, 57084015], [57085311, 57085481], [57092099, 57092248], [57099712, 57099889], [57101616, 57101670], [57103225, 57103316], [57113960, 57114640]] None
ENST00000555046 [[57103233, 57103316], [57116789, 57117324]] [[57103233, 57103316], [57116789, 57116831]]
NM_017799 [[57046510, 57046792], [57051718, 57051750], [57052478, 57052630], [57070532, 57070710], [57072287, 57072401], [57075823, 57076003], [57078962, 57079003], [57082661, 57082745], [57083900, 57084015], [57085311, 57085481], [57088248, 57088420], [57092099, 57092248], [57099712, 57099889], [57101616, 57101670], [57103225, 57103316], [57113960, 57116233]] [[57046632, 57046792], [57051718, 57051750], [57052478, 57052630], [57070532, 57070710], [57072287, 57072401], [57075823, 57076003], [57078962, 57079003], [57082661, 57082745], [57083900, 57084015], [57085311, 57085481], [57088248, 57088420], [57092099, 57092248], [57099712, 57099889], [57101616, 57101670], [57103225, 57103316], [57113960, 57114215]]
Promoter
Chrom Start End Description
chr14 57046500 57046529 CAGE_peak_1_at_C14orf101_5end
chr14 57046530 57046550 CAGE_peak_2_at_C14orf101_5end
chr14 57052405 57052416 CAGE_peak_4_at_C14orf101_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I056952 56952290 56954727 1.18 [{'connected_gene': 'TMEM260', 'score': 12.35}, {'connected_gene': 'LOC105370515', 'score': 9.68}, {'connected_gene': 'RPL3P3', 'score': 0.34}, {'connected_gene': 'GC14P056899', 'score': 0.23}, {'connected_gene': 'OTX2-AS1', 'score': 0.11}]
chr14 GH14I056578 56578943 56581340 2.25 [{'connected_gene': 'TMEM260', 'score': 558.14}, {'connected_gene': 'LOC105370515', 'score': 17.84}, {'connected_gene': 'PELI2', 'score': 13.23}, {'connected_gene': 'LOC101927690', 'score': 0.2}]
chr14 GH14I056659 56659406 56659789 0.43 [{'connected_gene': 'TMEM260', 'score': 6.82}, {'connected_gene': 'LOC105370515', 'score': 0.39}, {'connected_gene': 'GC14M056684', 'score': 0.34}, {'connected_gene': 'ENSG00000259133', 'score': 0.19}]
chr14 GH14I056487 56487383 56487432 0.43 [{'connected_gene': 'TMEM260', 'score': 550.77}, {'connected_gene': 'LOC105370514', 'score': 0.15}]
chr14 GH14I056489 56487843 56488112 0.43 [{'connected_gene': 'TMEM260', 'score': 550.77}, {'connected_gene': 'LOC105370514', 'score': 0.15}]
chr14 GH14I056488 56487543 56487692 0.38 [{'connected_gene': 'TMEM260', 'score': 550.77}, {'connected_gene': 'LOC105370514', 'score': 0.15}]
chr14 GH14I056571 56571728 56572005 0.24 [{'connected_gene': 'TMEM260', 'score': 8.25}, {'connected_gene': 'LOC101927690', 'score': 0.22}, {'connected_gene': 'LOC105370515', 'score': 0.18}]
chr14 GH14I056491 56491400 56491601 0.86 [{'connected_gene': 'TMEM260', 'score': 0.77}, {'connected_gene': 'LOC101927690', 'score': 0.34}]
chr14 GH14I056648 56648103 56648781 0.38 [{'connected_gene': 'LOC105370515', 'score': 550.77}, {'connected_gene': 'LOC101927690', 'score': 0.12}, {'connected_gene': 'TMEM260', 'score': 0.1}]
chr14 GH14I056584 56584834 56585255 0.51 [{'connected_gene': 'LOC105370515', 'score': 0.21}, {'connected_gene': 'LOC101927690', 'score': 0.19}, {'connected_gene': 'TMEM260', 'score': 0.15}]
chr14 GH14I056590 56590254 56590886 0.95 [{'connected_gene': 'LOC105370515', 'score': 0.22}, {'connected_gene': 'LOC101927690', 'score': 0.18}, {'connected_gene': 'TMEM260', 'score': 0.15}]
chr14 GH14I056608 56608843 56608932 0.7 [{'connected_gene': 'LOC105370515', 'score': 0.28}, {'connected_gene': 'LOC101927690', 'score': 0.16}, {'connected_gene': 'TMEM260', 'score': 0.13}]
chr14 GH14I056412 56412601 56413012 0.58 [{'connected_gene': 'LOC105370514', 'score': 0.34}, {'connected_gene': 'TMEM260', 'score': 0.18}]
chr14 GH14I056422 56422263 56423189 0.82 [{'connected_gene': 'LOC105370514', 'score': 0.29}, {'connected_gene': 'TMEM260', 'score': 0.2}]
chr14 GH14I056423 56423593 56423936 0.57 [{'connected_gene': 'LOC105370514', 'score': 0.29}, {'connected_gene': 'TMEM260', 'score': 0.21}]
chr14 GH14I056556 56556063 56556192 0.82 [{'connected_gene': 'LOC101927690', 'score': 0.26}, {'connected_gene': 'TMEM260', 'score': 0.2}, {'connected_gene': 'LOC105370515', 'score': 0.16}]
chr14 GH14I056542 56542875 56543218 0.22 [{'connected_gene': 'LOC101927690', 'score': 0.31}, {'connected_gene': 'TMEM260', 'score': 0.23}, {'connected_gene': 'LOC105370515', 'score': 0.14}]
chr14 GH14I056525 56525063 56525212 0.2 [{'connected_gene': 'LOC101927690', 'score': 0.39}, {'connected_gene': 'TMEM260', 'score': 0.28}, {'connected_gene': 'LOC105370515', 'score': 0.13}]
chr14 GH14I056513 56513837 56514311 0.4 [{'connected_gene': 'LOC101927690', 'score': 550.77}, {'connected_gene': 'TMEM260', 'score': 0.31}]
chr14 GH14I056760 56760307 56760668 0.67 [{'connected_gene': 'ENSG00000258703', 'score': 550.77}, {'connected_gene': 'TMEM260', 'score': 12.11}, {'connected_gene': 'LOC105370515', 'score': 9.76}, {'connected_gene': 'OTX2', 'score': 5.91}, {'connected_gene': 'GC14M056800', 'score': 0.26}]