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
ENST00000261637 [[101673886, 101674105], [101674893, 101674974], [101679347, 101679414], [101679526, 101679659], [101680098, 101680287], [101682737, 101682819], [101683914, 101684052], [101684510, 101684666], [101685519, 101685666], [101685747, 101685882], [101686945, 101687023], [101689257, 101689436], [101693459, 101693615], [101693750, 101693839], [101696225, 101696331], [101699692, 101699843], [101700476, 101700539], [101701962, 101702121], [101703540, 101703617], [101705496, 101705576], [101705813, 101706054], [101711255, 101711441], [101713322, 101713413], [101714629, 101714715], [101715281, 101715407], [101720858, 101721025], [101723018, 101723227], [101727078, 101727222], [101728202, 101728282], [101731828, 101732055], [101732590, 101732735], [101734300, 101734388], [101736223, 101736367], [101736564, 101736615], [101736718, 101736871], [101738372, 101738528], [101739331, 101739472], [101740228, 101740366], [101745832, 101745972], [101746824, 101746907], [101748609, 101748896], [101750331, 101750471], [101750703, 101750860], [101755739, 101755838], [101757353, 101757521], [101759236, 101759403], [101760335, 101760477], [101761637, 101761754], [101763498, 101763669], [101764209, 101764341], [101764835, 101764946], [101766661, 101766741], [101767178, 101767248], [101767362, 101767545], [101768585, 101768717], [101769401, 101769534], [101773148, 101773336], [101774917, 101774989], [101776818, 101777091], [101777320, 101777447], [101779360, 101779506], [101779745, 101780394]] [[101674060, 101674105], [101674893, 101674974], [101679347, 101679414], [101679526, 101679659], [101680098, 101680287], [101682737, 101682819], [101683914, 101684052], [101684510, 101684666], [101685519, 101685666], [101685747, 101685882], [101686945, 101687023], [101689257, 101689436], [101693459, 101693615], [101693750, 101693839], [101696225, 101696331], [101699692, 101699843], [101700476, 101700539], [101701962, 101702121], [101703540, 101703617], [101705496, 101705576], [101705813, 101706054], [101711255, 101711441], [101713322, 101713413], [101714629, 101714715], [101715281, 101715407], [101720858, 101721025], [101723018, 101723227], [101727078, 101727222], [101728202, 101728282], [101731828, 101732055], [101732590, 101732735], [101734300, 101734388], [101736223, 101736367], [101736564, 101736615], [101736718, 101736871], [101738372, 101738528], [101739331, 101739472], [101740228, 101740366], [101745832, 101745972], [101746824, 101746907], [101748609, 101748896], [101750331, 101750471], [101750703, 101750860], [101755739, 101755838], [101757353, 101757521], [101759236, 101759403], [101760335, 101760477], [101761637, 101761754], [101763498, 101763669], [101764209, 101764341], [101764835, 101764946], [101766661, 101766741], [101767178, 101767248], [101767362, 101767545], [101768585, 101768717], [101769401, 101769534], [101773148, 101773336], [101774917, 101774989], [101776818, 101777091], [101777320, 101777447], [101779360, 101779506], [101779745, 101779901]]
ENST00000551825 [[101673905, 101674105], [101674893, 101674974], [101679347, 101679414], [101679526, 101679659], [101680098, 101680287], [101682737, 101682819], [101683914, 101684052], [101684510, 101685205]] None
ENST00000551998 [[101683680, 101684052], [101684510, 101684739]] None
ENST00000551345 [[101720632, 101721025], [101723018, 101723123]] None
NM_014503 [[101673904, 101674105], [101674893, 101674974], [101679347, 101679414], [101679526, 101679659], [101680098, 101680287], [101682737, 101682819], [101683914, 101684052], [101684510, 101684666], [101685519, 101685666], [101685747, 101685882], [101686945, 101687023], [101689257, 101689436], [101693459, 101693615], [101693750, 101693839], [101696225, 101696331], [101699692, 101699843], [101700476, 101700539], [101701962, 101702121], [101703540, 101703617], [101705496, 101705576], [101705813, 101706054], [101711255, 101711441], [101713322, 101713413], [101714629, 101714715], [101715281, 101715407], [101720858, 101721025], [101723018, 101723227], [101727078, 101727222], [101728202, 101728282], [101731828, 101732055], [101732590, 101732735], [101734300, 101734388], [101736223, 101736367], [101736564, 101736615], [101736718, 101736871], [101738372, 101738528], [101739331, 101739472], [101740228, 101740366], [101745832, 101745972], [101746824, 101746907], [101748609, 101748896], [101750331, 101750471], [101750703, 101750860], [101755739, 101755838], [101757353, 101757521], [101759236, 101759403], [101760335, 101760477], [101761637, 101761754], [101763498, 101763669], [101764209, 101764341], [101764835, 101764946], [101766661, 101766741], [101767178, 101767248], [101767362, 101767545], [101768585, 101768717], [101769401, 101769534], [101773148, 101773336], [101774917, 101774989], [101776818, 101777091], [101777320, 101777447], [101779360, 101779506], [101779745, 101780397]] [[101674060, 101674105], [101674893, 101674974], [101679347, 101679414], [101679526, 101679659], [101680098, 101680287], [101682737, 101682819], [101683914, 101684052], [101684510, 101684666], [101685519, 101685666], [101685747, 101685882], [101686945, 101687023], [101689257, 101689436], [101693459, 101693615], [101693750, 101693839], [101696225, 101696331], [101699692, 101699843], [101700476, 101700539], [101701962, 101702121], [101703540, 101703617], [101705496, 101705576], [101705813, 101706054], [101711255, 101711441], [101713322, 101713413], [101714629, 101714715], [101715281, 101715407], [101720858, 101721025], [101723018, 101723227], [101727078, 101727222], [101728202, 101728282], [101731828, 101732055], [101732590, 101732735], [101734300, 101734388], [101736223, 101736367], [101736564, 101736615], [101736718, 101736871], [101738372, 101738528], [101739331, 101739472], [101740228, 101740366], [101745832, 101745972], [101746824, 101746907], [101748609, 101748896], [101750331, 101750471], [101750703, 101750860], [101755739, 101755838], [101757353, 101757521], [101759236, 101759403], [101760335, 101760477], [101761637, 101761754], [101763498, 101763669], [101764209, 101764341], [101764835, 101764946], [101766661, 101766741], [101767178, 101767248], [101767362, 101767545], [101768585, 101768717], [101769401, 101769534], [101773148, 101773336], [101774917, 101774989], [101776818, 101777091], [101777320, 101777447], [101779360, 101779506], [101779745, 101779901]]
Promoter
Chrom Start End Description
chr12 101673872 101673912 CAGE_peak_1_at_UTP20_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I100500 100500738 100506432 1.35 [{'connected_gene': 'NR1H4', 'score': 561.53}, {'connected_gene': 'UTP20', 'score': 12.93}, {'connected_gene': 'SCYL2', 'score': 11.94}, {'connected_gene': 'ENSG00000271177', 'score': 0.34}]
chr12 GH12I101051 101051073 101053724 1.1 [{'connected_gene': 'ACTR6', 'score': 14.15}, {'connected_gene': 'UTP20', 'score': 12.88}, {'connected_gene': 'ENSG00000257543', 'score': 9.87}, {'connected_gene': 'GAS2L3', 'score': 4.78}, {'connected_gene': 'SNX5P2', 'score': 0.39}, {'connected_gene': 'ENSG00000258007', 'score': 0.39}, {'connected_gene': 'ANO4', 'score': 0.06}]
chr12 GH12I101406 101406246 101409220 2.06 [{'connected_gene': 'ARL1', 'score': 568.0}, {'connected_gene': 'ENSG00000257543', 'score': 550.77}, {'connected_gene': 'UTP20', 'score': 0.13}]
chr12 GH12I101875 101875119 101879576 2.38 [{'connected_gene': 'DRAM1', 'score': 577.07}, {'connected_gene': 'ENSG00000257222', 'score': 13.24}, {'connected_gene': 'CHPT1', 'score': 13.14}, {'connected_gene': 'UTP20', 'score': 10.32}, {'connected_gene': 'PARPBP', 'score': 9.8}, {'connected_gene': 'GNPTAB', 'score': 9.8}, {'connected_gene': 'PIR46358', 'score': 0.25}]
chr12 GH12I102060 102060617 102062732 2.01 [{'connected_gene': 'WASHC3', 'score': 585.47}, {'connected_gene': 'ENSG00000257222', 'score': 550.77}, {'connected_gene': 'UTP20', 'score': 19.1}, {'connected_gene': 'NUP37', 'score': 12.46}, {'connected_gene': 'PARPBP', 'score': 4.79}, {'connected_gene': 'NENFP2', 'score': 0.15}]
chr12 GH12I101279 101279201 101281201 1.96 [{'connected_gene': 'UTP20', 'score': 567.74}, {'connected_gene': 'ARL1', 'score': 19.34}, {'connected_gene': 'ENSG00000257222', 'score': 14.06}, {'connected_gene': 'NUP37', 'score': 12.85}]
chr12 GH12I101242 101242357 101247145 0.31 [{'connected_gene': 'SLC5A8', 'score': 11.13}, {'connected_gene': 'ARL1', 'score': 4.65}, {'connected_gene': 'RPS6P19', 'score': 0.37}, {'connected_gene': 'UTP20', 'score': 0.28}]
chr12 GH12I101240 101240495 101242270 0.2 [{'connected_gene': 'SLC5A8', 'score': 11.46}, {'connected_gene': 'ARL1', 'score': 7.48}, {'connected_gene': 'RPS6P19', 'score': 0.39}, {'connected_gene': 'UTP20', 'score': 0.28}]
chr12 GH12I101234 101234657 101237366 0.2 [{'connected_gene': 'SLC5A8', 'score': 16.67}, {'connected_gene': 'PARPBP', 'score': 4.45}, {'connected_gene': 'RPS6P19', 'score': 0.44}, {'connected_gene': 'UTP20', 'score': 0.26}]
chr12 GH12I101250 101250082 101250954 0.31 [{'connected_gene': 'SLC5A8', 'score': 10.47}, {'connected_gene': 'UTP20', 'score': 4.58}, {'connected_gene': 'RPS6P19', 'score': 0.34}]
chr12 GH12I101669 101669942 101670800 1.02 [{'connected_gene': 'LOC105369936', 'score': 18.24}, {'connected_gene': 'NUP37', 'score': 15.67}, {'connected_gene': 'ENSG00000257222', 'score': 12.52}, {'connected_gene': 'CHPT1', 'score': 12.51}, {'connected_gene': 'UTP20', 'score': 12.3}, {'connected_gene': 'SYCP3', 'score': 10.6}, {'connected_gene': 'GC12P101665', 'score': 0.44}, {'connected_gene': 'ENSG00000274560', 'score': 0.31}, {'connected_gene': 'MYBPC1', 'score': 0.15}]
chr12 GH12I101230 101230401 101231190 0.31 [{'connected_gene': 'ENSG00000241744', 'score': 550.77}, {'connected_gene': 'RPS6P19', 'score': 550.77}, {'connected_gene': 'SLC5A8', 'score': 11.18}, {'connected_gene': 'UTP20', 'score': 0.25}]