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
ENST00000563675 [[19421817, 19421862], [19441734, 19441962]] None
ENST00000541464 [[19421860, 19422095], [19441734, 19441962], [19451281, 19452148], [19455402, 19455572], [19460863, 19460953], [19471556, 19471656], [19474601, 19474689], [19475097, 19475346], [19477403, 19477555], [19481002, 19481147], [19485446, 19485598], [19488761, 19488840], [19490752, 19490850], [19492691, 19492787], [19498266, 19498342], [19498514, 19498648], [19501716, 19501890], [19503471, 19503550], [19505583, 19505688], [19508442, 19508485], [19509241, 19509462]] [[19451360, 19452148], [19455402, 19455572], [19460863, 19460953], [19471556, 19471656], [19474601, 19474689], [19475097, 19475346], [19477403, 19477555], [19481002, 19481147], [19485446, 19485598], [19488761, 19488840], [19490752, 19490850], [19492691, 19492787], [19498266, 19498342], [19498514, 19498648], [19501716, 19501890], [19503471, 19503550], [19505583, 19505688], [19508442, 19508485], [19509241, 19509288]]
ENST00000381414 [[19422044, 19422498], [19441734, 19441962], [19451281, 19452148], [19455402, 19455572], [19460863, 19460953], [19471556, 19471656], [19474601, 19474689], [19475097, 19475346], [19477403, 19477555], [19481002, 19481147], [19483409, 19483565], [19485446, 19485598], [19488761, 19488840], [19490752, 19490850], [19492691, 19492787], [19498266, 19498342], [19498514, 19498648], [19503471, 19503550], [19505583, 19505688], [19508442, 19508485], [19509241, 19510435]] [[19451360, 19452148], [19455402, 19455572], [19460863, 19460953], [19471556, 19471656], [19474601, 19474689], [19475097, 19475346], [19477403, 19477555], [19481002, 19481147], [19483409, 19483565], [19485446, 19485598], [19488761, 19488840], [19490752, 19490850], [19492691, 19492787], [19498266, 19498342], [19498514, 19498648], [19503471, 19503550], [19505583, 19505688], [19508442, 19508485], [19509241, 19509288]]
ENST00000396229 [[19422056, 19422498], [19441734, 19441962], [19451281, 19452148], [19455402, 19455572], [19460863, 19460953], [19471556, 19471656], [19474601, 19474689], [19475097, 19475346], [19477403, 19477555], [19481002, 19481147], [19483409, 19483565], [19485446, 19485598], [19488761, 19488840], [19490752, 19490850], [19492691, 19492787], [19498266, 19498342], [19498514, 19498648], [19501716, 19501890], [19503471, 19503550], [19505583, 19505688], [19508442, 19508485], [19509241, 19510435]] [[19451360, 19452148], [19455402, 19455572], [19460863, 19460953], [19471556, 19471656], [19474601, 19474689], [19475097, 19475346], [19477403, 19477555], [19481002, 19481147], [19483409, 19483565], [19485446, 19485598], [19488761, 19488840], [19490752, 19490850], [19492691, 19492787], [19498266, 19498342], [19498514, 19498648], [19501716, 19501890], [19503471, 19503550], [19505583, 19505688], [19508442, 19508485], [19509241, 19509288]]
ENST00000542583 [[19429017, 19429414], [19441734, 19441962], [19451281, 19452148], [19455402, 19455572], [19460863, 19460953], [19471556, 19471656], [19474601, 19474689], [19475097, 19475346], [19477403, 19477555], [19481002, 19481147], [19483409, 19483565], [19485446, 19485598], [19488761, 19488840], [19490752, 19490850], [19492691, 19492787], [19498266, 19498342], [19498514, 19498648], [19501716, 19501890], [19503471, 19503550], [19505583, 19505688], [19508442, 19508485], [19509241, 19510435]] [[19451360, 19452148], [19455402, 19455572], [19460863, 19460953], [19471556, 19471656], [19474601, 19474689], [19475097, 19475346], [19477403, 19477555], [19481002, 19481147], [19483409, 19483565], [19485446, 19485598], [19488761, 19488840], [19490752, 19490850], [19492691, 19492787], [19498266, 19498342], [19498514, 19498648], [19501716, 19501890], [19503471, 19503550], [19505583, 19505688], [19508442, 19508485], [19509241, 19509288]]
ENST00000219821 [[19467771, 19468338], [19471556, 19471656], [19474601, 19474689], [19475097, 19475346], [19477403, 19477555], [19481002, 19481147], [19483409, 19483565], [19485446, 19485598], [19488761, 19488840], [19490752, 19490850], [19492691, 19492787], [19498266, 19498342], [19498514, 19498648], [19501716, 19501890], [19503471, 19503550], [19505583, 19505688], [19508442, 19508485], [19509241, 19510435]] [[19468028, 19468338], [19471556, 19471656], [19474601, 19474689], [19475097, 19475346], [19477403, 19477555], [19481002, 19481147], [19483409, 19483565], [19485446, 19485598], [19488761, 19488840], [19490752, 19490850], [19492691, 19492787], [19498266, 19498342], [19498514, 19498648], [19501716, 19501890], [19503471, 19503550], [19505583, 19505688], [19508442, 19508485], [19509241, 19509288]]
ENST00000561503 [[19467805, 19468067], [19471556, 19471656], [19474601, 19474689], [19475097, 19475346], [19477403, 19477555], [19481002, 19481147], [19483409, 19483565], [19485446, 19485598], [19488761, 19488840], [19490752, 19490850], [19492691, 19492787], [19498266, 19498342], [19498514, 19498648], [19501716, 19501890], [19503471, 19503550], [19505583, 19505688], [19508442, 19508485], [19509241, 19509540]] [[19471585, 19471656], [19474601, 19474689], [19475097, 19475346], [19477403, 19477555], [19481002, 19481147], [19483409, 19483565], [19485446, 19485598], [19488761, 19488840], [19490752, 19490850], [19492691, 19492787], [19498266, 19498342], [19498514, 19498648], [19501716, 19501890], [19503471, 19503550], [19505583, 19505688], [19508442, 19508485], [19509241, 19509288]]
ENST00000567478 [[19467808, 19468338], [19471556, 19471656], [19474601, 19474689], [19475097, 19475346], [19477403, 19477555], [19481002, 19481147], [19483409, 19483565], [19485446, 19485598], [19488761, 19488840], [19490752, 19490850], [19492691, 19492787], [19498266, 19498342], [19498514, 19498648], [19501716, 19501890], [19503471, 19503639]] None
ENST00000564959 [[19467838, 19468067], [19471561, 19471656], [19473824, 19473887], [19474601, 19474689], [19475097, 19475346], [19477403, 19477555], [19481002, 19481147], [19483409, 19483565], [19485446, 19485598], [19488761, 19488840], [19490752, 19490850], [19492691, 19492787], [19498266, 19498342], [19498514, 19498648], [19501716, 19501890], [19503471, 19503550], [19505583, 19505688], [19508442, 19508485], [19509241, 19509462]] [[19468028, 19468067], [19471561, 19471656], [19473824, 19473887], [19474601, 19474689], [19475097, 19475346], [19477403, 19477555], [19481002, 19481147], [19483409, 19483565], [19485446, 19485598], [19488761, 19488840], [19490752, 19490850], [19492691, 19492787], [19498266, 19498342], [19498514, 19498648], [19501716, 19501890], [19503471, 19503550], [19505583, 19505688], [19508442, 19508485], [19509241, 19509288]]
ENST00000572147 [[19485486, 19485598], [19486079, 19486196], [19488761, 19488840], [19490752, 19490850], [19492691, 19492748]] [[19485486, 19485598], [19486079, 19486095]]
ENST00000574033 [[19498262, 19498342], [19501716, 19501890], [19503471, 19503550], [19505583, 19505688], [19508442, 19508485], [19509241, 19509599]] [[19498262, 19498342], [19501716, 19501734]]
NM_001308161 [[19421860, 19422095], [19441734, 19441962], [19451281, 19452148], [19455402, 19455572], [19460863, 19460953], [19471556, 19471656], [19474601, 19474689], [19475097, 19475346], [19477403, 19477555], [19481002, 19481147], [19485446, 19485598], [19488761, 19488840], [19490752, 19490850], [19492691, 19492787], [19498266, 19498342], [19498514, 19498648], [19501716, 19501890], [19503471, 19503550], [19505583, 19505688], [19508442, 19508485], [19509241, 19510435]] [[19451360, 19452148], [19455402, 19455572], [19460863, 19460953], [19471556, 19471656], [19474601, 19474689], [19475097, 19475346], [19477403, 19477555], [19481002, 19481147], [19485446, 19485598], [19488761, 19488840], [19490752, 19490850], [19492691, 19492787], [19498266, 19498342], [19498514, 19498648], [19501716, 19501890], [19503471, 19503550], [19505583, 19505688], [19508442, 19508485], [19509241, 19509288]]
NM_001105249 [[19422056, 19422498], [19441734, 19441962], [19451281, 19452148], [19455402, 19455572], [19460863, 19460953], [19471556, 19471656], [19474601, 19474689], [19475097, 19475346], [19477403, 19477555], [19481002, 19481147], [19483409, 19483565], [19485446, 19485598], [19488761, 19488840], [19490752, 19490850], [19492691, 19492787], [19498266, 19498342], [19498514, 19498648], [19503471, 19503550], [19505583, 19505688], [19508442, 19508485], [19509241, 19510435]] [[19451360, 19452148], [19455402, 19455572], [19460863, 19460953], [19471556, 19471656], [19474601, 19474689], [19475097, 19475346], [19477403, 19477555], [19481002, 19481147], [19483409, 19483565], [19485446, 19485598], [19488761, 19488840], [19490752, 19490850], [19492691, 19492787], [19498266, 19498342], [19498514, 19498648], [19503471, 19503550], [19505583, 19505688], [19508442, 19508485], [19509241, 19509288]]
NM_001105248 [[19422056, 19422498], [19441734, 19441962], [19451281, 19452148], [19455402, 19455572], [19460863, 19460953], [19471556, 19471656], [19474601, 19474689], [19475097, 19475346], [19477403, 19477555], [19481002, 19481147], [19483409, 19483565], [19485446, 19485598], [19488761, 19488840], [19490752, 19490850], [19492691, 19492787], [19498266, 19498342], [19498514, 19498648], [19501716, 19501890], [19503471, 19503550], [19505583, 19505688], [19508442, 19508485], [19509241, 19510435]] [[19451360, 19452148], [19455402, 19455572], [19460863, 19460953], [19471556, 19471656], [19474601, 19474689], [19475097, 19475346], [19477403, 19477555], [19481002, 19481147], [19483409, 19483565], [19485446, 19485598], [19488761, 19488840], [19490752, 19490850], [19492691, 19492787], [19498266, 19498342], [19498514, 19498648], [19501716, 19501890], [19503471, 19503550], [19505583, 19505688], [19508442, 19508485], [19509241, 19509288]]
NM_001261841 [[19429017, 19429414], [19441734, 19441962], [19451281, 19452148], [19455402, 19455572], [19460863, 19460953], [19471556, 19471656], [19474601, 19474689], [19475097, 19475346], [19477403, 19477555], [19481002, 19481147], [19483409, 19483565], [19485446, 19485598], [19488761, 19488840], [19490752, 19490850], [19492691, 19492787], [19498266, 19498342], [19498514, 19498648], [19501716, 19501890], [19503471, 19503550], [19505583, 19505688], [19508442, 19508485], [19509241, 19510435]] [[19451360, 19452148], [19455402, 19455572], [19460863, 19460953], [19471556, 19471656], [19474601, 19474689], [19475097, 19475346], [19477403, 19477555], [19481002, 19481147], [19483409, 19483565], [19485446, 19485598], [19488761, 19488840], [19490752, 19490850], [19492691, 19492787], [19498266, 19498342], [19498514, 19498648], [19501716, 19501890], [19503471, 19503550], [19505583, 19505688], [19508442, 19508485], [19509241, 19509288]]
NM_024780 [[19467771, 19468338], [19471556, 19471656], [19474601, 19474689], [19475097, 19475346], [19477403, 19477555], [19481002, 19481147], [19483409, 19483565], [19485446, 19485598], [19488761, 19488840], [19490752, 19490850], [19492691, 19492787], [19498266, 19498342], [19498514, 19498648], [19501716, 19501890], [19503471, 19503550], [19505583, 19505688], [19508442, 19508485], [19509241, 19510435]] [[19468028, 19468338], [19471556, 19471656], [19474601, 19474689], [19475097, 19475346], [19477403, 19477555], [19481002, 19481147], [19483409, 19483565], [19485446, 19485598], [19488761, 19488840], [19490752, 19490850], [19492691, 19492787], [19498266, 19498342], [19498514, 19498648], [19501716, 19501890], [19503471, 19503550], [19505583, 19505688], [19508442, 19508485], [19509241, 19509288]]
Promoter
Chrom Start End Description
chr16 19421803 19421848 CAGE_peak_4_at_TMC5_5end
chr16 19421885 19421901 CAGE_peak_10_at_TMC5_5end
chr16 19421906 19421915 CAGE_peak_15_at_TMC5_5end
chr16 19421957 19421978 CAGE_peak_5_at_TMC5_5end
chr16 19422035 19422090 CAGE_peak_3_at_TMC5_5end
chr16 19429024 19429065 CAGE_peak_2_at_TMC5_5end
chr16 19429067 19429073 CAGE_peak_18_at_TMC5_5end
chr16 19429197 19429221 CAGE_peak_1_at_TMC5_5end
chr16 19429225 19429228 CAGE_peak_13_at_TMC5_5end
chr16 19429231 19429243 CAGE_peak_6_at_TMC5_5end
chr16 19429245 19429253 CAGE_peak_9_at_TMC5_5end
chr16 19429257 19429270 CAGE_peak_7_at_TMC5_5end
chr16 19467779 19467791 CAGE_peak_23_at_TMC5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I019493 19493779 19494000 0.92 [{'connected_gene': 'CCP110', 'score': 9.67}, {'connected_gene': 'GC16P019498', 'score': 0.77}, {'connected_gene': 'ENSG00000260592', 'score': 0.44}, {'connected_gene': 'TMC5', 'score': 0.18}]
chr16 GH16I019381 19381799 19383437 0.74 [{'connected_gene': 'TMC5', 'score': 34.66}, {'connected_gene': 'SYT17', 'score': 15.28}, {'connected_gene': 'GDE1', 'score': 5.06}, {'connected_gene': 'GC16P019387', 'score': 0.44}, {'connected_gene': 'GC16P019371', 'score': 0.39}, {'connected_gene': 'LOC105371114', 'score': 0.39}, {'connected_gene': 'ENSG00000259925', 'score': 0.37}]
chr16 GH16I019384 19384326 19385441 0.49 [{'connected_gene': 'TMC5', 'score': 17.93}, {'connected_gene': 'SYT17', 'score': 7.63}, {'connected_gene': 'KNOP1', 'score': 5.4}, {'connected_gene': 'GC16P019387', 'score': 0.77}, {'connected_gene': 'LOC105371114', 'score': 0.44}, {'connected_gene': 'GC16P019371', 'score': 0.39}, {'connected_gene': 'ENSG00000259925', 'score': 0.37}]
chr16 GH16I019409 19409998 19411764 2.01 [{'connected_gene': 'TMC5', 'score': 564.66}, {'connected_gene': 'ENSG00000260681', 'score': 550.77}, {'connected_gene': 'SYT17', 'score': 13.98}, {'connected_gene': 'ENSG00000259925', 'score': 9.95}, {'connected_gene': 'KNOP1', 'score': 4.91}]
chr16 GH16I019416 19416473 19420698 1.45 [{'connected_gene': 'TMC5', 'score': 561.69}, {'connected_gene': 'SYT17', 'score': 12.13}, {'connected_gene': 'ENSG00000259925', 'score': 9.78}, {'connected_gene': 'GC16P019423', 'score': 0.77}, {'connected_gene': 'ENSG00000260681', 'score': 0.44}]
chr16 GH16I019428 19428786 19433965 1.22 [{'connected_gene': 'TMC5', 'score': 12.54}, {'connected_gene': 'RNU4-46P', 'score': 11.47}, {'connected_gene': 'COQ7', 'score': 10.25}, {'connected_gene': 'CCP110', 'score': 7.01}, {'connected_gene': 'ENSG00000259925', 'score': 6.75}, {'connected_gene': 'GC16P019423', 'score': 0.44}, {'connected_gene': 'GC16P019447', 'score': 0.37}]
chr16 GH16I019463 19463331 19464248 0.57 [{'connected_gene': 'TMC5', 'score': 7.98}, {'connected_gene': 'GC16P019447', 'score': 0.37}, {'connected_gene': 'ENSG00000260592', 'score': 0.34}]
chr16 GH16I019456 19456415 19456474 0.5 [{'connected_gene': 'TMC5', 'score': 550.25}, {'connected_gene': 'GC16P019447', 'score': 0.44}, {'connected_gene': 'ENSG00000260592', 'score': 0.29}]
chr16 GH16I019554 19554337 19556914 2.09 [{'connected_gene': 'C16orf62', 'score': 560.92}, {'connected_gene': 'RPS15A', 'score': 22.6}, {'connected_gene': 'CCP110', 'score': 19.09}, {'connected_gene': 'COQ7', 'score': 10.09}, {'connected_gene': 'TMC5', 'score': 7.67}, {'connected_gene': 'KNOP1', 'score': 6.91}, {'connected_gene': 'GDE1', 'score': 5.0}, {'connected_gene': 'GC16M019688', 'score': 0.12}, {'connected_gene': 'GC16M019687', 'score': 0.12}]
chr16 GH16I019665 19665528 19669659 0.56 [{'connected_gene': 'C16orf62', 'score': 16.49}, {'connected_gene': 'IQCK', 'score': 11.53}, {'connected_gene': 'KNOP1', 'score': 11.52}, {'connected_gene': 'TMC5', 'score': 4.56}, {'connected_gene': 'GC16M019688', 'score': 0.34}, {'connected_gene': 'GC16M019687', 'score': 0.34}]
chr16 GH16I019479 19479479 19479548 0.72 [{'connected_gene': 'SYT17', 'score': 10.4}, {'connected_gene': 'ENSG00000260592', 'score': 0.44}, {'connected_gene': 'GC16P019447', 'score': 0.29}, {'connected_gene': 'TMC5', 'score': 0.2}]
chr16 GH16I019485 19485819 19485968 0.31 [{'connected_gene': 'SYT17', 'score': 10.4}, {'connected_gene': 'ENSG00000260592', 'score': 0.77}, {'connected_gene': 'GC16P019447', 'score': 0.28}, {'connected_gene': 'TMC5', 'score': 0.18}]
chr16 GH16I019588 19588677 19591290 0.86 [{'connected_gene': 'KNOP1', 'score': 15.17}, {'connected_gene': 'CCP110', 'score': 9.79}, {'connected_gene': 'TMC5', 'score': 4.32}, {'connected_gene': 'C16orf62', 'score': 0.29}, {'connected_gene': 'GC16M019688', 'score': 0.15}, {'connected_gene': 'GC16M019687', 'score': 0.15}]
chr16 GH16I019423 19423342 19426587 0.51 [{'connected_gene': 'RNU4-46P', 'score': 11.43}, {'connected_gene': 'SYT17', 'score': 10.7}, {'connected_gene': 'TMC5', 'score': 9.93}, {'connected_gene': 'ENSG00000259925', 'score': 7.8}, {'connected_gene': 'KNOP1', 'score': 4.78}, {'connected_gene': 'GC16P019423', 'score': 0.77}, {'connected_gene': 'GC16P019447', 'score': 0.34}]
chr16 GH16I019436 19436380 19438400 0.77 [{'connected_gene': 'RNU4-46P', 'score': 11.47}, {'connected_gene': 'COQ7', 'score': 10.05}, {'connected_gene': 'CCP110', 'score': 5.35}, {'connected_gene': 'TMC5', 'score': 4.66}, {'connected_gene': 'GC16P019447', 'score': 0.39}, {'connected_gene': 'GC16P019423', 'score': 0.39}]
chr16 GH16I019386 19386041 19387394 0.31 [{'connected_gene': 'GC16P019387', 'score': 550.77}, {'connected_gene': 'TMC5', 'score': 18.31}, {'connected_gene': 'SYT17', 'score': 7.71}, {'connected_gene': 'LOC105371114', 'score': 0.44}, {'connected_gene': 'ENSG00000259925', 'score': 0.39}, {'connected_gene': 'GC16P019371', 'score': 0.37}]
chr16 GH16I019412 19412840 19414068 0.84 [{'connected_gene': 'ENSG00000260681', 'score': 550.77}, {'connected_gene': 'TMC5', 'score': 14.58}, {'connected_gene': 'SYT17', 'score': 13.81}, {'connected_gene': 'GC16P019423', 'score': 0.44}]
chr16 GH16I019411 19411875 19411950 0.31 [{'connected_gene': 'ENSG00000260681', 'score': 550.77}, {'connected_gene': 'TMC5', 'score': 550.77}, {'connected_gene': 'GC16P019423', 'score': 0.39}]
chr16 GH16I019415 19415218 19416206 0.63 [{'connected_gene': 'ENSG00000260681', 'score': 0.77}, {'connected_gene': 'TMC5', 'score': 0.44}, {'connected_gene': 'GC16P019423', 'score': 0.44}]
chr16 GH16I019392 19392340 19397836 1.12 [{'connected_gene': 'ENSG00000280265', 'score': 550.77}, {'connected_gene': 'LOC105371114', 'score': 550.77}, {'connected_gene': 'TMC5', 'score': 15.25}, {'connected_gene': 'SYT17', 'score': 14.36}, {'connected_gene': 'RNU4-46P', 'score': 11.25}, {'connected_gene': 'COQ7', 'score': 10.72}, {'connected_gene': 'ENSG00000259925', 'score': 0.44}]
chr16 GH16I019487 19487201 19489422 1.15 [{'connected_gene': 'ENSG00000260592', 'score': 550.77}, {'connected_gene': 'COQ7', 'score': 20.4}, {'connected_gene': 'SMG1', 'score': 13.02}, {'connected_gene': 'RPS15A', 'score': 10.59}, {'connected_gene': 'SYT17', 'score': 10.4}, {'connected_gene': 'KNOP1', 'score': 7.69}, {'connected_gene': 'CCP110', 'score': 6.76}, {'connected_gene': 'TMC5', 'score': 5.64}, {'connected_gene': 'GDE1', 'score': 4.61}, {'connected_gene': 'GC16P019498', 'score': 0.39}]

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