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
ENST00000566037 [[47495033, 47495337], [47497809, 47497904], [47531309, 47531399], [47533666, 47533805], [47536901, 47537001], [47545575, 47545683], [47549431, 47549512], [47581343, 47581458]] [[47497849, 47497904], [47531309, 47531399], [47533666, 47533805], [47536901, 47537001], [47545575, 47545683], [47549431, 47549512], [47581343, 47581458]]
ENST00000566044 [[47495205, 47495337], [47497792, 47497904], [47531309, 47531399], [47533666, 47533805], [47536901, 47537001], [47545575, 47545683], [47549431, 47549512], [47581343, 47581459], [47614205, 47614269], [47621578, 47621674], [47622815, 47623013], [47627410, 47627468], [47628047, 47628125], [47630283, 47630442], [47644736, 47644831], [47674945, 47675001], [47675509, 47675603], [47682443, 47682527], [47683010, 47683115], [47684454, 47684537], [47684741, 47684832], [47694416, 47694478], [47694567, 47694730], [47695629, 47695711], [47697587, 47697645], [47699852, 47699943], [47703125, 47703328], [47722951, 47723086], [47727288, 47727418], [47730291, 47730399], [47732358, 47732499], [47733139, 47733656]] [[47497849, 47497904], [47531309, 47531399], [47533666, 47533805], [47536901, 47537001], [47545575, 47545683], [47549431, 47549512], [47581343, 47581459], [47614205, 47614269], [47621578, 47621674], [47622815, 47623013], [47627410, 47627468], [47628047, 47628125], [47630283, 47630442], [47644736, 47644831], [47674945, 47675001], [47675509, 47675603], [47682443, 47682527], [47683010, 47683115], [47684454, 47684537], [47684741, 47684832], [47694416, 47694478], [47694567, 47694730], [47695629, 47695711], [47697587, 47697645], [47699852, 47699943], [47703125, 47703328], [47722951, 47723086], [47727288, 47727418], [47730291, 47730399], [47732358, 47732499], [47733139, 47733277]]
ENST00000455779 [[47495209, 47495337], [47497792, 47497904], [47531309, 47531399], [47533666, 47533805], [47536901, 47537001], [47545575, 47545683], [47549431, 47549512], [47581343, 47581459], [47614205, 47614269], [47621578, 47621674], [47622815, 47623013], [47627410, 47627468], [47628047, 47628125], [47630283, 47630442], [47644736, 47644831], [47674945, 47675001], [47675509, 47675603], [47682443, 47682527], [47683010, 47683115], [47684454, 47684537], [47684741, 47684832], [47694416, 47694478], [47694567, 47694730], [47695629, 47695711], [47697587, 47697645], [47698795, 47698886], [47703125, 47703328], [47722951, 47723086], [47727288, 47727418], [47730291, 47730399], [47732358, 47732499], [47733139, 47735434]] [[47497849, 47497904], [47531309, 47531399], [47533666, 47533805], [47536901, 47537001], [47545575, 47545683], [47549431, 47549512], [47581343, 47581459], [47614205, 47614269], [47621578, 47621674], [47622815, 47623013], [47627410, 47627468], [47628047, 47628125], [47630283, 47630442], [47644736, 47644831], [47674945, 47675001], [47675509, 47675603], [47682443, 47682527], [47683010, 47683115], [47684454, 47684537], [47684741, 47684832], [47694416, 47694478], [47694567, 47694730], [47695629, 47695711], [47697587, 47697645], [47698795, 47698886], [47703125, 47703328], [47722951, 47723086], [47727288, 47727418], [47730291, 47730399], [47732358, 47732499], [47733139, 47733277]]
ENST00000299167 [[47495236, 47495337], [47531309, 47531399], [47533666, 47533805], [47536901, 47537001], [47545575, 47545683], [47549431, 47549512], [47581343, 47581459], [47614205, 47614269], [47621578, 47621674], [47622815, 47623013], [47627410, 47627468], [47628047, 47628125], [47630283, 47630442], [47644736, 47644831], [47674945, 47675001], [47675509, 47675603], [47682443, 47682527], [47683010, 47683115], [47684454, 47684537], [47684741, 47684832], [47694416, 47694478], [47694567, 47694730], [47695629, 47695711], [47697587, 47697645], [47699852, 47699943], [47703125, 47703328], [47722951, 47723086], [47727288, 47727418], [47730291, 47730399], [47732358, 47732499], [47733139, 47735434]] [[47495261, 47495337], [47531309, 47531399], [47533666, 47533805], [47536901, 47537001], [47545575, 47545683], [47549431, 47549512], [47581343, 47581459], [47614205, 47614269], [47621578, 47621674], [47622815, 47623013], [47627410, 47627468], [47628047, 47628125], [47630283, 47630442], [47644736, 47644831], [47674945, 47675001], [47675509, 47675603], [47682443, 47682527], [47683010, 47683115], [47684454, 47684537], [47684741, 47684832], [47694416, 47694478], [47694567, 47694730], [47695629, 47695711], [47697587, 47697645], [47699852, 47699943], [47703125, 47703328], [47722951, 47723086], [47727288, 47727418], [47730291, 47730399], [47732358, 47732499], [47733139, 47733277]]
ENST00000323584 [[47495237, 47495337], [47531309, 47531399], [47533666, 47533805], [47536901, 47537001], [47545575, 47545683], [47549431, 47549512], [47581343, 47581459], [47614205, 47614269], [47621578, 47621674], [47622815, 47623013], [47627410, 47627468], [47628047, 47628125], [47630283, 47630442], [47644736, 47644831], [47674945, 47675001], [47675509, 47675603], [47682443, 47682527], [47683010, 47683115], [47684454, 47684537], [47684741, 47684832], [47694416, 47694478], [47694567, 47694730], [47695629, 47695711], [47697587, 47697645], [47698795, 47698886], [47703125, 47703328], [47722951, 47723086], [47727288, 47727418], [47730291, 47730399], [47732358, 47732499], [47733139, 47734254]] [[47495261, 47495337], [47531309, 47531399], [47533666, 47533805], [47536901, 47537001], [47545575, 47545683], [47549431, 47549512], [47581343, 47581459], [47614205, 47614269], [47621578, 47621674], [47622815, 47623013], [47627410, 47627468], [47628047, 47628125], [47630283, 47630442], [47644736, 47644831], [47674945, 47675001], [47675509, 47675603], [47682443, 47682527], [47683010, 47683115], [47684454, 47684537], [47684741, 47684832], [47694416, 47694478], [47694567, 47694730], [47695629, 47695711], [47697587, 47697645], [47698795, 47698886], [47703125, 47703328], [47722951, 47723086], [47727288, 47727418], [47730291, 47730399], [47732358, 47732499], [47733139, 47733277]]
ENST00000565424 [[47495241, 47495337], [47581343, 47582075]] None
ENST00000567402 [[47495246, 47495337], [47531309, 47531399], [47533666, 47533805], [47536901, 47537001], [47545575, 47545683], [47549431, 47549512], [47581343, 47581459], [47614205, 47614269], [47621578, 47621674], [47622815, 47623013], [47624215, 47624749]] None
ENST00000570047 [[47533666, 47533805], [47536901, 47537001], [47545575, 47545683], [47549431, 47549512], [47581343, 47581459], [47596308, 47596406], [47614205, 47614269], [47621578, 47621669]] [[47533666, 47533805], [47536901, 47537001], [47545575, 47545683], [47549431, 47549512], [47581343, 47581459], [47596308, 47596327]]
ENST00000566275 [[47694613, 47694730], [47695629, 47695711], [47697587, 47697645], [47699852, 47699943], [47703125, 47703328], [47709496, 47710320]] [[47694613, 47694730], [47695629, 47695711], [47697587, 47697645], [47699852, 47699943], [47703125, 47703328], [47709496, 47709578]]
ENST00000566319 [[47698700, 47699943], [47703125, 47703328], [47722951, 47723086], [47727288, 47727418], [47730291, 47730399], [47732358, 47732499], [47733139, 47734259]] None
ENST00000566721 [[47495239, 47495337], [47497008, 47497433]] None
ENST00000563376 [[47495260, 47495337], [47496251, 47496363], [47497792, 47497904], [47531309, 47531399], [47533666, 47533805], [47536901, 47537001], [47545575, 47545642]] [[47497849, 47497904], [47531309, 47531399], [47533666, 47533805], [47536901, 47537001], [47545575, 47545642]]
ENST00000567200 [[47496022, 47496363], [47497809, 47497880]] [[47497849, 47497880]]
ENST00000564873 [[47496577, 47497904], [47531309, 47531399], [47533666, 47533742]] [[47497849, 47497904], [47531309, 47531399], [47533666, 47533742]]
ENST00000566436 [[47628060, 47628125], [47630283, 47630442], [47631714, 47631947]] None
ENST00000568439 [[47630338, 47630442], [47644736, 47644831], [47653040, 47653340]] [[47630338, 47630442], [47644736, 47644831], [47653040, 47653070]]
ENST00000568171 [[47684740, 47684832], [47694416, 47694478], [47694567, 47694730], [47695629, 47695711], [47697587, 47698301]] None
ENST00000564711 [[47730382, 47730399], [47732358, 47732499], [47733066, 47733605]] [[47730382, 47730399], [47732358, 47732499], [47733066, 47733144]]
NM_000293 [[47495209, 47495337], [47531309, 47531399], [47533666, 47533805], [47536901, 47537001], [47545575, 47545683], [47549431, 47549512], [47581343, 47581459], [47614205, 47614269], [47621578, 47621674], [47622815, 47623013], [47627410, 47627468], [47628047, 47628125], [47630283, 47630442], [47644736, 47644831], [47674945, 47675001], [47675509, 47675603], [47682443, 47682527], [47683010, 47683115], [47684454, 47684537], [47684741, 47684832], [47694416, 47694478], [47694567, 47694730], [47695629, 47695711], [47697587, 47697645], [47698795, 47698886], [47703125, 47703328], [47722951, 47723086], [47727288, 47727418], [47730291, 47730399], [47732358, 47732499], [47733139, 47735434]] [[47495261, 47495337], [47531309, 47531399], [47533666, 47533805], [47536901, 47537001], [47545575, 47545683], [47549431, 47549512], [47581343, 47581459], [47614205, 47614269], [47621578, 47621674], [47622815, 47623013], [47627410, 47627468], [47628047, 47628125], [47630283, 47630442], [47644736, 47644831], [47674945, 47675001], [47675509, 47675603], [47682443, 47682527], [47683010, 47683115], [47684454, 47684537], [47684741, 47684832], [47694416, 47694478], [47694567, 47694730], [47695629, 47695711], [47697587, 47697645], [47698795, 47698886], [47703125, 47703328], [47722951, 47723086], [47727288, 47727418], [47730291, 47730399], [47732358, 47732499], [47733139, 47733277]]
NM_001031835 [[47495209, 47495337], [47497792, 47497904], [47531309, 47531399], [47533666, 47533805], [47536901, 47537001], [47545575, 47545683], [47549431, 47549512], [47581343, 47581459], [47614205, 47614269], [47621578, 47621674], [47622815, 47623013], [47627410, 47627468], [47628047, 47628125], [47630283, 47630442], [47644736, 47644831], [47674945, 47675001], [47675509, 47675603], [47682443, 47682527], [47683010, 47683115], [47684454, 47684537], [47684741, 47684832], [47694416, 47694478], [47694567, 47694730], [47695629, 47695711], [47697587, 47697645], [47699852, 47699943], [47703125, 47703328], [47722951, 47723086], [47727288, 47727418], [47730291, 47730399], [47732358, 47732499], [47733139, 47735434]] [[47497849, 47497904], [47531309, 47531399], [47533666, 47533805], [47536901, 47537001], [47545575, 47545683], [47549431, 47549512], [47581343, 47581459], [47614205, 47614269], [47621578, 47621674], [47622815, 47623013], [47627410, 47627468], [47628047, 47628125], [47630283, 47630442], [47644736, 47644831], [47674945, 47675001], [47675509, 47675603], [47682443, 47682527], [47683010, 47683115], [47684454, 47684537], [47684741, 47684832], [47694416, 47694478], [47694567, 47694730], [47695629, 47695711], [47697587, 47697645], [47699852, 47699943], [47703125, 47703328], [47722951, 47723086], [47727288, 47727418], [47730291, 47730399], [47732358, 47732499], [47733139, 47733277]]
Promoter
Chrom Start End Description
chr16 47495201 47495215 CAGE_peak_2_at_PHKB_5end
chr16 47495225 47495259 CAGE_peak_1_at_PHKB_5end
chr16 47495272 47495279 CAGE_peak_4_at_PHKB_5end
chr16 47495282 47495293 CAGE_peak_3_at_PHKB_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I047573 47573488 47575308 0.79 [{'connected_gene': 'LONP2', 'score': 4.09}, {'connected_gene': 'EIF4BP5', 'score': 0.44}, {'connected_gene': 'GC16M047600', 'score': 0.34}, {'connected_gene': 'PHKB', 'score': 0.14}]
chr16 GH16I047523 47523133 47524304 1.02 [{'connected_gene': 'ITFG1', 'score': 10.52}, {'connected_gene': 'PHKB', 'score': 10.5}, {'connected_gene': 'SHCBP1', 'score': 5.06}, {'connected_gene': 'ENSG00000262038', 'score': 0.44}, {'connected_gene': 'RNA5SP425', 'score': 0.37}]
chr16 GH16I047459 47459225 47464187 2.26 [{'connected_gene': 'ITFG1', 'score': 550.77}, {'connected_gene': 'PHKB', 'score': 550.77}, {'connected_gene': 'ENSG00000261131', 'score': 22.99}, {'connected_gene': 'SIAH1', 'score': 11.22}, {'connected_gene': 'SHCBP1', 'score': 4.89}, {'connected_gene': 'GPT2', 'score': 4.44}, {'connected_gene': 'LONP2', 'score': 4.0}]
chr16 GH16I047617 47617830 47617979 0.6 [{'connected_gene': 'ITFG1', 'score': 10.69}, {'connected_gene': 'PHKB', 'score': 10.68}, {'connected_gene': 'PIR31968', 'score': 0.37}, {'connected_gene': 'NDUFA5P11', 'score': 0.37}]
chr16 GH16I047643 47643124 47644485 0.49 [{'connected_gene': 'ITFG1', 'score': 10.62}, {'connected_gene': 'PHKB', 'score': 10.61}, {'connected_gene': 'PIR31968', 'score': 0.44}, {'connected_gene': 'LINC02133', 'score': 0.18}]
chr16 GH16I047475 47475148 47476520 0.85 [{'connected_gene': 'ITFG1', 'score': 0.39}, {'connected_gene': 'PHKB', 'score': 0.39}, {'connected_gene': 'PIR32661', 'score': 0.31}]
chr16 GH16I047470 47470502 47471306 0.67 [{'connected_gene': 'ITFG1', 'score': 0.44}, {'connected_gene': 'PHKB', 'score': 0.44}, {'connected_gene': 'PIR32661', 'score': 0.29}]
chr16 GH16I047467 47467477 47469144 1.14 [{'connected_gene': 'ITFG1', 'score': 0.77}, {'connected_gene': 'PHKB', 'score': 0.44}, {'connected_gene': 'PIR32661', 'score': 0.28}]
chr16 GH16I047464 47464201 47464600 0.88 [{'connected_gene': 'ITFG1', 'score': 550.77}, {'connected_gene': 'PHKB', 'score': 0.77}, {'connected_gene': 'PIR32661', 'score': 0.26}]
chr16 GH16I047491 47491233 47494833 1.49 [{'connected_gene': 'PHKB', 'score': 5.7}, {'connected_gene': 'LONP2', 'score': 4.11}, {'connected_gene': 'SHCBP1', 'score': 3.66}, {'connected_gene': 'PIR32661', 'score': 0.39}, {'connected_gene': 'ITFG1', 'score': 0.31}]
chr16 GH16I047457 47457700 47458383 0.31 [{'connected_gene': 'PHKB', 'score': 0.77}, {'connected_gene': 'ITFG1', 'score': 0.44}, {'connected_gene': 'RNA5SP424', 'score': 0.44}]
chr16 GH16I047566 47566601 47566800 0.2 [{'connected_gene': 'EIF4BP5', 'score': 550.77}, {'connected_gene': 'ITFG1', 'score': 10.71}, {'connected_gene': 'PHKB', 'score': 10.71}, {'connected_gene': 'LOC100420642', 'score': 0.77}]
chr16 GH16I047565 47565001 47566199 0.77 [{'connected_gene': 'EIF4BP5', 'score': 550.77}, {'connected_gene': 'ITFG1', 'score': 10.71}, {'connected_gene': 'PHKB', 'score': 10.71}, {'connected_gene': 'LOC100420642', 'score': 0.77}]
chr16 GH16I047567 47567810 47569083 0.31 [{'connected_gene': 'EIF4BP5', 'score': 550.77}, {'connected_gene': 'ITFG1', 'score': 10.81}, {'connected_gene': 'PHKB', 'score': 10.81}, {'connected_gene': 'GC16M047600', 'score': 0.29}]
chr16 GH16I047572 47572790 47572939 0.2 [{'connected_gene': 'EIF4BP5', 'score': 0.44}, {'connected_gene': 'GC16M047600', 'score': 0.31}, {'connected_gene': 'PHKB', 'score': 0.14}]
chr16 GH16I047627 47627130 47627279 0.31 [{'connected_gene': 'PIR31968', 'score': 0.39}, {'connected_gene': 'NDUFA5P11', 'score': 0.31}, {'connected_gene': 'PHKB', 'score': 0.1}]
chr16 GH16I047503 47503731 47505151 0.43 [{'connected_gene': 'PIR32661', 'score': 550.77}, {'connected_gene': 'RNA5SP425', 'score': 550.77}, {'connected_gene': 'ITFG1', 'score': 11.53}, {'connected_gene': 'PHKB', 'score': 11.53}, {'connected_gene': 'GPT2', 'score': 4.19}]
chr16 GH16I047520 47520410 47520559 0.78 [{'connected_gene': 'ENSG00000262038', 'score': 0.44}, {'connected_gene': 'RNA5SP425', 'score': 0.37}, {'connected_gene': 'PHKB', 'score': 0.22}]