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
ENST00000401605 [[29320570, 29320813], [29344239, 29344387], [29354123, 29354263], [29355017, 29355111], [29356520, 29356682], [29358413, 29358532], [29366574, 29366811], [29368097, 29368233], [29375550, 29375694], [29379219, 29379309], [29380069, 29380213], [29383198, 29383333], [29386696, 29386820], [29390341, 29390406], [29397238, 29397579]] [[29344254, 29344387], [29354123, 29354263], [29355017, 29355111], [29356520, 29356682], [29358413, 29358532], [29366574, 29366811], [29368097, 29368233], [29375550, 29375694], [29379219, 29379309], [29380069, 29380213], [29383198, 29383333], [29386696, 29386820], [29390341, 29390406], [29397238, 29397315]]
ENST00000401617 [[29320593, 29320813], [29354123, 29354263], [29355017, 29355111], [29356520, 29356682], [29358413, 29358532], [29366574, 29366811], [29368097, 29368233], [29375550, 29375694], [29379219, 29379309], [29380069, 29380213], [29383198, 29383333], [29386696, 29386820], [29390341, 29390406], [29397238, 29397311], [29404437, 29404563], [29412356, 29412509]] [[29355065, 29355111], [29356520, 29356682], [29358413, 29358532], [29366574, 29366811], [29368097, 29368233], [29375550, 29375694], [29379219, 29379309], [29380069, 29380213], [29383198, 29383333], [29386696, 29386820], [29390341, 29390406], [29397238, 29397311], [29404437, 29404563], [29412356, 29412471]]
ENST00000415891 [[29320606, 29320813], [29344239, 29344387], [29354123, 29354263], [29355017, 29355111], [29356520, 29356682], [29358413, 29358532], [29366574, 29366811], [29368097, 29368233], [29375550, 29375694], [29379219, 29379309], [29380069, 29380268], [29383198, 29383333], [29386696, 29386820], [29390341, 29390406], [29397238, 29397507]] [[29344254, 29344387], [29354123, 29354263], [29355017, 29355111], [29356520, 29356682], [29358413, 29358532], [29366574, 29366811], [29368097, 29368233], [29375550, 29375694], [29379219, 29379309], [29380069, 29380268], [29383198, 29383232]]
ENST00000404424 [[29336861, 29337178], [29344239, 29344387], [29354123, 29354263], [29355017, 29355111], [29356520, 29356682], [29358413, 29358532], [29366574, 29366811], [29368097, 29368233], [29375550, 29375694], [29379219, 29379309], [29380069, 29380213], [29383198, 29383333], [29386696, 29386820], [29390341, 29390406], [29397238, 29397311], [29404437, 29404789]] [[29344254, 29344387], [29354123, 29354263], [29355017, 29355111], [29356520, 29356682], [29358413, 29358532], [29366574, 29366811], [29368097, 29368233], [29375550, 29375694], [29379219, 29379309], [29380069, 29380213], [29383198, 29383333], [29386696, 29386820], [29390341, 29390406], [29397238, 29397311], [29404437, 29404759]]
ENST00000456385 [[29337743, 29338015], [29344239, 29344387], [29354123, 29354263], [29356520, 29356682], [29358413, 29358532], [29366574, 29366811], [29368097, 29368233], [29375550, 29375694], [29379219, 29379309], [29380069, 29380268], [29383198, 29383333], [29386696, 29386820], [29390341, 29390406], [29397238, 29397578]] [[29344254, 29344387], [29354123, 29354263], [29356520, 29356541]]
ENST00000320081 [[29338291, 29338531], [29344239, 29344387], [29354123, 29354263], [29355017, 29355111], [29356520, 29356682], [29358413, 29358532], [29366574, 29366811], [29368097, 29368233], [29375550, 29375694], [29379219, 29379309], [29380069, 29380213], [29383198, 29383333], [29386696, 29386820], [29390341, 29390406], [29397238, 29397311], [29404437, 29406679]] [[29344254, 29344387], [29354123, 29354263], [29355017, 29355111], [29356520, 29356682], [29358413, 29358532], [29366574, 29366811], [29368097, 29368233], [29375550, 29375694], [29379219, 29379309], [29380069, 29380213], [29383198, 29383333], [29386696, 29386820], [29390341, 29390406], [29397238, 29397311], [29404437, 29404759]]
ENST00000449202 [[29341060, 29341227], [29344239, 29344387], [29354123, 29354263], [29355017, 29355111], [29356520, 29356682], [29358413, 29358528]] [[29344254, 29344387], [29354123, 29354263], [29355017, 29355111], [29356520, 29356682], [29358413, 29358528]]
ENST00000491701 [[29344379, 29344387], [29354123, 29355516]] None
ENST00000471165 [[29353479, 29353753], [29354123, 29354226]] None
ENST00000438819 [[29353536, 29353631], [29354123, 29354263], [29355017, 29355111], [29356520, 29356682], [29358413, 29358484]] [[29355065, 29355111], [29356520, 29356682], [29358413, 29358484]]
ENST00000493551 [[29383231, 29383333], [29386696, 29386820], [29390341, 29390742]] None
ENST00000481628 [[29398228, 29398466], [29404437, 29404624]] None
NM_001287528 [[29320541, 29320813], [29344239, 29344387], [29354123, 29354263], [29355017, 29355111], [29356520, 29356682], [29358413, 29358532], [29366574, 29366811], [29368097, 29368233], [29375550, 29375694], [29379219, 29379309], [29380069, 29380213], [29383198, 29383333], [29386696, 29386820], [29390341, 29390406], [29397238, 29397581]] [[29344254, 29344387], [29354123, 29354263], [29355017, 29355111], [29356520, 29356682], [29358413, 29358532], [29366574, 29366811], [29368097, 29368233], [29375550, 29375694], [29379219, 29379309], [29380069, 29380213], [29383198, 29383333], [29386696, 29386820], [29390341, 29390406], [29397238, 29397315]]
NR_109844 [[29337743, 29338015], [29344239, 29344387], [29354123, 29354263], [29356520, 29356682], [29358413, 29358532], [29366574, 29366811], [29368097, 29368233], [29375550, 29375694], [29379219, 29379309], [29380069, 29380268], [29383198, 29383333], [29386696, 29386820], [29390341, 29390406], [29397238, 29397581]] None
NM_001287527 [[29338291, 29338527], [29344239, 29344387], [29354123, 29354263], [29355017, 29355111], [29356520, 29356682], [29358413, 29358532], [29366574, 29366811], [29368097, 29368233], [29375550, 29375694], [29379219, 29379309], [29380069, 29380213], [29383198, 29383333], [29386696, 29386820], [29390341, 29390406], [29397238, 29397311], [29404437, 29406679]] [[29344254, 29344387], [29354123, 29354263], [29355017, 29355111], [29356520, 29356682], [29358413, 29358532], [29366574, 29366811], [29368097, 29368233], [29375550, 29375694], [29379219, 29379309], [29380069, 29380213], [29383198, 29383333], [29386696, 29386820], [29390341, 29390406], [29397238, 29397311], [29404437, 29404759]]
NM_024692 [[29338291, 29338531], [29344239, 29344387], [29354123, 29354263], [29355017, 29355111], [29356520, 29356682], [29358413, 29358532], [29366574, 29366811], [29368097, 29368233], [29375550, 29375694], [29379219, 29379309], [29380069, 29380213], [29383198, 29383333], [29386696, 29386820], [29390341, 29390406], [29397238, 29397311], [29404437, 29406679]] [[29344254, 29344387], [29354123, 29354263], [29355017, 29355111], [29356520, 29356682], [29358413, 29358532], [29366574, 29366811], [29368097, 29368233], [29375550, 29375694], [29379219, 29379309], [29380069, 29380213], [29383198, 29383333], [29386696, 29386820], [29390341, 29390406], [29397238, 29397311], [29404437, 29404759]]
Promoter
Chrom Start End Description
chr2 29320587 29320609 CAGE_peak_19_at_CLIP4_5end
chr2 29336855 29336914 CAGE_peak_7_at_CLIP4_5end
chr2 29336986 29336998 CAGE_peak_9_at_CLIP4_5end
chr2 29337010 29337046 CAGE_peak_2_at_CLIP4_5end
chr2 29337060 29337092 CAGE_peak_3_at_CLIP4_5end
chr2 29337097 29337111 CAGE_peak_10_at_CLIP4_5end
chr2 29337114 29337117 CAGE_peak_21_at_CLIP4_5end
chr2 29337914 29337987 CAGE_peak_4_at_CLIP4_5end
chr2 29338034 29338054 CAGE_peak_20_at_CLIP4_5end
chr2 29338236 29338439 CAGE_peak_1_at_CLIP4_5end
chr2 29338464 29338485 CAGE_peak_5_at_CLIP4_5end
chr2 29338486 29338508 CAGE_peak_6_at_CLIP4_5end
chr2 29341016 29341031 CAGE_peak_17_at_CLIP4_5end
chr2 29341037 29341054 CAGE_peak_13_at_CLIP4_5end
chr2 29341068 29341087 CAGE_peak_15_at_CLIP4_5end
chr2 29353367 29353397 CAGE_peak_12_at_CLIP4_5end
chr2 29353400 29353413 CAGE_peak_28_at_CLIP4_5end
chr2 29353477 29353508 CAGE_peak_11_at_CLIP4_5end
chr2 29353520 29353557 CAGE_peak_8_at_CLIP4_5end
chr2 29398214 29398229 CAGE_peak_27_at_CLIP4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I029112 29112312 29121551 2.34 [{'connected_gene': 'CLIP4', 'score': 550.37}, {'connected_gene': 'TOGARAM2', 'score': 10.87}, {'connected_gene': 'C2orf71', 'score': 5.99}, {'connected_gene': 'GC02P029290', 'score': 0.09}]
chr2 GH02I029165 29165243 29166355 0.88 [{'connected_gene': 'TRMT61B', 'score': 13.84}, {'connected_gene': 'LOC105374386', 'score': 11.47}, {'connected_gene': 'CLIP4', 'score': 11.47}, {'connected_gene': 'TOGARAM2', 'score': 10.91}, {'connected_gene': 'C2orf71', 'score': 5.86}, {'connected_gene': 'GC02P029290', 'score': 0.13}]
chr2 GH02I029138 29138573 29140174 0.38 [{'connected_gene': 'C2orf71', 'score': 6.18}, {'connected_gene': 'CLIP4', 'score': 0.26}, {'connected_gene': 'GC02P029290', 'score': 0.1}]
chr2 GH02I029127 29126330 29126600 0.33 [{'connected_gene': 'C2orf71', 'score': 5.74}, {'connected_gene': 'CLIP4', 'score': 0.31}, {'connected_gene': 'GC02P029290', 'score': 0.1}]
chr2 GH02I029076 29076366 29076508 0.36 [{'connected_gene': 'C2orf71', 'score': 550.77}, {'connected_gene': 'LOC105374386', 'score': 12.97}, {'connected_gene': 'CLIP4', 'score': 12.97}, {'connected_gene': 'TOGARAM2', 'score': 10.31}, {'connected_gene': 'LOC105374385', 'score': 0.39}]
chr2 GH02I029212 29212443 29212559 0.22 [{'connected_gene': 'SPDYA', 'score': 3.37}, {'connected_gene': 'GC02P029290', 'score': 0.18}, {'connected_gene': 'CLIP4', 'score': 0.14}, {'connected_gene': 'ALK', 'score': 0.03}]
chr2 GH02I029259 29259755 29260966 0.49 [{'connected_gene': 'ALK', 'score': 9.31}, {'connected_gene': 'GC02P029290', 'score': 0.31}, {'connected_gene': 'CLIP4', 'score': 0.1}]
chr2 GH02I029281 29281401 29281965 0.66 [{'connected_gene': 'ALK', 'score': 8.52}, {'connected_gene': 'GC02P029290', 'score': 0.44}, {'connected_gene': 'CLIP4', 'score': 0.09}]
chr2 GH02I029196 29196915 29197064 0.73 [{'connected_gene': 'TOGARAM2', 'score': 11.99}, {'connected_gene': 'GC02P029290', 'score': 0.16}, {'connected_gene': 'CLIP4', 'score': 0.15}, {'connected_gene': 'ALK', 'score': 0.03}]
chr2 GH02I029201 29201980 29202704 0.2 [{'connected_gene': 'TOGARAM2', 'score': 11.59}, {'connected_gene': 'GC02P029290', 'score': 0.17}, {'connected_gene': 'CLIP4', 'score': 0.15}, {'connected_gene': 'ALK', 'score': 0.03}]
chr2 GH02I029105 29105791 29109948 1.52 [{'connected_gene': 'TOGARAM2', 'score': 10.69}, {'connected_gene': 'ENSG00000270640', 'score': 6.43}, {'connected_gene': 'CLIP4', 'score': 0.39}, {'connected_gene': 'GC02P029290', 'score': 0.09}]
chr2 GH02I029188 29188997 29189772 0.43 [{'connected_gene': 'TOGARAM2', 'score': 11.45}, {'connected_gene': 'CLIP4', 'score': 0.16}, {'connected_gene': 'GC02P029290', 'score': 0.15}]
chr2 GH02I029110 29110245 29111644 0.84 [{'connected_gene': 'TOGARAM2', 'score': 10.69}, {'connected_gene': 'CLIP4', 'score': 0.39}, {'connected_gene': 'GC02P029290', 'score': 0.1}]
chr2 GH02I029126 29126690 29131183 1.45 [{'connected_gene': 'LOC105374386', 'score': 11.18}, {'connected_gene': 'CLIP4', 'score': 11.18}, {'connected_gene': 'C2orf71', 'score': 5.76}, {'connected_gene': 'GC02P029290', 'score': 0.1}]
chr2 GH02I029122 29122256 29125855 1.2 [{'connected_gene': 'LOC105374386', 'score': 11.68}, {'connected_gene': 'CLIP4', 'score': 11.68}, {'connected_gene': 'C2orf71', 'score': 5.85}, {'connected_gene': 'GC02P029290', 'score': 0.1}]
chr2 GH02I029097 29097678 29097737 0.5 [{'connected_gene': 'LOC105374386', 'score': 550.77}, {'connected_gene': 'CLIP4', 'score': 550.77}, {'connected_gene': 'GC02P029290', 'score': 0.08}]
chr2 GH02I029063 29063235 29067706 0.89 [{'connected_gene': 'LOC105374385', 'score': 550.77}, {'connected_gene': 'LOC105374386', 'score': 21.16}, {'connected_gene': 'C2orf71', 'score': 12.83}, {'connected_gene': 'CLIP4', 'score': 11.69}, {'connected_gene': 'TOGARAM2', 'score': 11.13}]
chr2 GH02I029233 29233555 29233704 0.52 [{'connected_gene': 'ENSG00000197644', 'score': 9.62}, {'connected_gene': 'GC02P029290', 'score': 0.22}, {'connected_gene': 'CLIP4', 'score': 0.12}, {'connected_gene': 'ALK', 'score': 0.03}]
chr2 GH02I029228 29228375 29228524 0.31 [{'connected_gene': 'GC02P029290', 'score': 0.21}, {'connected_gene': 'CLIP4', 'score': 0.12}, {'connected_gene': 'ALK', 'score': 0.03}]
chr2 GH02I029262 29262995 29263144 0.57 [{'connected_gene': 'GC02P029290', 'score': 0.31}, {'connected_gene': 'CLIP4', 'score': 0.1}, {'connected_gene': 'ALK', 'score': 0.03}]
chr2 GH02I029263 29262695 29262859 0.56 [{'connected_gene': 'GC02P029290', 'score': 0.31}, {'connected_gene': 'CLIP4', 'score': 0.1}, {'connected_gene': 'ALK', 'score': 0.03}]

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