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
ENST00000262039 [[39535170, 39535324], [39537534, 39537723], [39542453, 39542597], [39550290, 39550420], [39567775, 39567862], [39570422, 39570518], [39573233, 39573305], [39575853, 39575958], [39576601, 39576694], [39584319, 39584505], [39593405, 39593560], [39595439, 39595530], [39600601, 39600669], [39607406, 39607512], [39609288, 39609405], [39613789, 39613921], [39617655, 39617784], [39618744, 39618814], [39620640, 39620705], [39623696, 39623781], [39629494, 39629569], [39637846, 39638015], [39644703, 39644794], [39647351, 39647477], [39661086, 39667794]] [[39535256, 39535324], [39537534, 39537723], [39542453, 39542597], [39550290, 39550420], [39567775, 39567862], [39570422, 39570518], [39573233, 39573305], [39575853, 39575958], [39576601, 39576694], [39584319, 39584505], [39593405, 39593560], [39595439, 39595530], [39600601, 39600669], [39607406, 39607512], [39609288, 39609405], [39613789, 39613921], [39617655, 39617784], [39618744, 39618814], [39620640, 39620705], [39623696, 39623781], [39629494, 39629569], [39637846, 39638015], [39644703, 39644794], [39647351, 39647477], [39661086, 39661101]]
ENST00000398870 [[39535218, 39535324], [39542453, 39542597], [39550290, 39550420], [39567775, 39567862], [39570422, 39570518], [39573233, 39573305], [39575853, 39575958], [39576601, 39576694], [39584319, 39584505], [39593405, 39593560], [39595439, 39595530], [39600601, 39600669], [39607406, 39607512], [39609288, 39609405], [39613789, 39613921], [39617655, 39617784], [39618744, 39618814], [39620640, 39620705], [39623696, 39623781], [39629494, 39629569], [39637846, 39638015], [39644703, 39644794], [39647351, 39647477], [39661086, 39667794]] [[39535256, 39535324], [39542453, 39542597], [39550290, 39550420], [39567775, 39567862], [39570422, 39570518], [39573233, 39573305], [39575853, 39575958], [39576601, 39576694], [39584319, 39584505], [39593405, 39593560], [39595439, 39595530], [39600601, 39600669], [39607406, 39607512], [39609288, 39609405], [39613789, 39613921], [39617655, 39617784], [39618744, 39618814], [39620640, 39620705], [39623696, 39623781], [39629494, 39629569], [39637846, 39638015], [39644703, 39644794], [39647351, 39647477], [39661086, 39661101]]
ENST00000586545 [[39535220, 39535324], [39537534, 39537723], [39542453, 39542597], [39550290, 39551402]] [[39535256, 39535324], [39537534, 39537723], [39542453, 39542597], [39550290, 39550495]]
ENST00000590220 [[39535226, 39535324], [39537653, 39537723]] None
ENST00000585528 [[39535382, 39535409], [39537534, 39537723], [39542453, 39542597], [39550290, 39550463]] [[39535382, 39535409], [39537534, 39537723], [39542453, 39542597], [39550290, 39550463]]
ENST00000591011 [[39537603, 39537723], [39542453, 39542597], [39550290, 39550420], [39564843, 39565071], [39567775, 39567839]] [[39537603, 39537723], [39542453, 39542597], [39550290, 39550420], [39564843, 39564852]]
ENST00000589550 [[39537631, 39537723], [39542453, 39542597], [39550290, 39550420], [39567775, 39567862], [39570422, 39570566]] None
ENST00000593098 [[39605294, 39607512], [39609288, 39609405], [39613789, 39613921], [39617655, 39617784], [39618744, 39618814], [39620640, 39620705], [39623696, 39623781], [39629494, 39629569], [39637846, 39638015], [39644703, 39644794], [39647351, 39647477], [39661086, 39661443]] [[39607467, 39607512], [39609288, 39609405], [39613789, 39613921], [39617655, 39617784], [39618744, 39618814], [39620640, 39620705], [39623696, 39623781], [39629494, 39629569], [39637846, 39638015], [39644703, 39644794], [39647351, 39647477], [39661086, 39661101]]
ENST00000590013 [[39605745, 39605903], [39607406, 39607512], [39609288, 39609405], [39613789, 39613921], [39617655, 39617781]] [[39607467, 39607512], [39609288, 39609405], [39613789, 39613921], [39617655, 39617781]]
ENST00000596052 [[39606981, 39607275], [39607330, 39607512], [39609288, 39609395]] [[39607467, 39607512], [39609288, 39609395]]
ENST00000597477 [[39613805, 39613921], [39617655, 39617784], [39618744, 39618814], [39620640, 39620705], [39623696, 39623781], [39629494, 39629647]] [[39613805, 39613921], [39617655, 39617784], [39618744, 39618814], [39620640, 39620705], [39623696, 39623781], [39629494, 39629580]]
ENST00000589056 [[39617713, 39617784], [39618744, 39618814], [39620640, 39620705], [39623696, 39623781], [39629494, 39631276]] [[39617775, 39617784], [39618744, 39618814], [39620640, 39620705], [39623696, 39623781], [39629494, 39629580]]
ENST00000587402 [[39617735, 39617784], [39618744, 39618814], [39620640, 39620705], [39623696, 39623781], [39629494, 39629569], [39629831, 39629939]] [[39617775, 39617784], [39618744, 39618814], [39620640, 39620705], [39623696, 39623781], [39629494, 39629569], [39629831, 39629839]]
ENST00000588631 [[39629255, 39629569], [39644703, 39644794], [39647351, 39647477], [39661086, 39661148]] None
ENST00000587261 [[39637601, 39638015], [39639758, 39639858], [39644703, 39644794], [39647351, 39647374]] [[39639832, 39639858], [39644703, 39644794], [39647351, 39647374]]
ENST00000588156 [[39637798, 39638015], [39644703, 39644794], [39647351, 39647477], [39661086, 39661385]] [[39637911, 39638015], [39644703, 39644794], [39647351, 39647477], [39661086, 39661101]]
ENST00000587328 [[39644658, 39644794], [39647351, 39647477], [39661086, 39661360]] [[39644737, 39644794], [39647351, 39647477], [39661086, 39661101]]
NM_001308020 [[39535162, 39535324], [39542453, 39542597], [39550290, 39550420], [39567775, 39567862], [39570422, 39570518], [39573233, 39573305], [39575853, 39575958], [39576601, 39576694], [39584319, 39584505], [39593405, 39593560], [39595439, 39595530], [39600601, 39600669], [39607406, 39607512], [39609288, 39609405], [39613789, 39613921], [39617655, 39617784], [39618744, 39618814], [39620640, 39620705], [39623696, 39623781], [39629494, 39629569], [39637846, 39638015], [39644703, 39644794], [39647351, 39647477], [39661086, 39661448]] [[39535256, 39535324], [39542453, 39542597], [39550290, 39550420], [39567775, 39567862], [39570422, 39570518], [39573233, 39573305], [39575853, 39575958], [39576601, 39576694], [39584319, 39584505], [39593405, 39593560], [39595439, 39595530], [39600601, 39600669], [39607406, 39607512], [39609288, 39609405], [39613789, 39613921], [39617655, 39617784], [39618744, 39618814], [39620640, 39620705], [39623696, 39623781], [39629494, 39629569], [39637846, 39638015], [39644703, 39644794], [39647351, 39647477], [39661086, 39661101]]
NM_002647 [[39535162, 39535324], [39537534, 39537723], [39542453, 39542597], [39550290, 39550420], [39567775, 39567862], [39570422, 39570518], [39573233, 39573305], [39575853, 39575958], [39576601, 39576694], [39584319, 39584505], [39593405, 39593560], [39595439, 39595530], [39600601, 39600669], [39607406, 39607512], [39609288, 39609405], [39613789, 39613921], [39617655, 39617784], [39618744, 39618814], [39620640, 39620705], [39623696, 39623781], [39629494, 39629569], [39637846, 39638015], [39644703, 39644794], [39647351, 39647477], [39661086, 39661448]] [[39535256, 39535324], [39537534, 39537723], [39542453, 39542597], [39550290, 39550420], [39567775, 39567862], [39570422, 39570518], [39573233, 39573305], [39575853, 39575958], [39576601, 39576694], [39584319, 39584505], [39593405, 39593560], [39595439, 39595530], [39600601, 39600669], [39607406, 39607512], [39609288, 39609405], [39613789, 39613921], [39617655, 39617784], [39618744, 39618814], [39620640, 39620705], [39623696, 39623781], [39629494, 39629569], [39637846, 39638015], [39644703, 39644794], [39647351, 39647477], [39661086, 39661101]]
Promoter
Chrom Start End Description
chr18 39535152 39535232 CAGE_peak_1_at_PIK3C3_5end
chr18 39535239 39535250 CAGE_peak_2_at_PIK3C3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I041972 41972249 41973406 0.6 [{'connected_gene': 'PIK3C3', 'score': 5.83}, {'connected_gene': 'KC6', 'score': 4.44}, {'connected_gene': 'GC18M041981', 'score': 0.39}]
chr18 GH18I042095 42095175 42096685 0.2 [{'connected_gene': 'PIK3C3', 'score': 5.51}, {'connected_gene': 'ENSG00000267088', 'score': 0.44}, {'connected_gene': 'GC18P042131', 'score': 0.28}]
chr18 GH18I042113 42113192 42115086 1.03 [{'connected_gene': 'PIK3C3', 'score': 10.47}, {'connected_gene': 'GC18P042131', 'score': 0.37}, {'connected_gene': 'ENSG00000267088', 'score': 0.34}]
chr18 GH18I041991 41991887 41993062 0.8 [{'connected_gene': 'PIK3C3', 'score': 12.13}, {'connected_gene': 'GC18P041990', 'score': 0.77}, {'connected_gene': 'GC18P042007', 'score': 0.37}]
chr18 GH18I042100 42100713 42101450 0.31 [{'connected_gene': 'PIK3C3', 'score': 5.43}, {'connected_gene': 'ENSG00000267088', 'score': 0.39}, {'connected_gene': 'GC18P042131', 'score': 0.29}]
chr18 GH18I042047 42047125 42048966 0.87 [{'connected_gene': 'PIK3C3', 'score': 5.67}, {'connected_gene': 'ENSG00000276174', 'score': 0.77}, {'connected_gene': 'GC18P042007', 'score': 0.26}]
chr18 GH18I041937 41937507 41941715 0.92 [{'connected_gene': 'PIK3C3', 'score': 6.5}, {'connected_gene': 'GC18M041930', 'score': 0.44}]
chr18 GH18I041966 41966511 41968373 0.31 [{'connected_gene': 'PIK3C3', 'score': 6.25}, {'connected_gene': 'GC18M041981', 'score': 0.37}]
chr18 GH18I041954 41954516 41956818 1.95 [{'connected_gene': 'PIK3C3', 'score': 558.0}, {'connected_gene': 'GC18M041981', 'score': 0.29}]
chr18 GH18I041960 41960712 41960975 0.45 [{'connected_gene': 'PIK3C3', 'score': 0.44}, {'connected_gene': 'GC18M041981', 'score': 0.34}]
chr18 GH18I042038 42038072 42039885 0.43 [{'connected_gene': 'ENSG00000276174', 'score': 0.39}, {'connected_gene': 'GC18P042007', 'score': 0.29}, {'connected_gene': 'PIK3C3', 'score': 0.18}]