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
ENST00000542120 [[65179790, 65179825], [65181139, 65181161], [65221614, 65221676], [65222223, 65222289], [65224156, 65224282], [65225898, 65226084], [65230269, 65230438], [65232462, 65232631], [65237159, 65237265], [65258447, 65258560], [65260543, 65260683], [65264381, 65264588], [65268780, 65274812]] [[65224216, 65224282], [65225898, 65226084], [65230269, 65230438], [65232462, 65232631], [65237159, 65237265], [65258447, 65258560], [65260543, 65260683], [65264381, 65264588], [65268780, 65269568]]
ENST00000229088 [[65174588, 65175066], [65179660, 65179825], [65221614, 65221676], [65222223, 65222289], [65224156, 65224282], [65225898, 65226084], [65230269, 65230438], [65232462, 65232631], [65237159, 65237265], [65258447, 65258560], [65260543, 65260683], [65264381, 65264588], [65268780, 65272083]] [[65174588, 65175066], [65179660, 65179825], [65221614, 65221676], [65222223, 65222289], [65224156, 65224282], [65225898, 65226084], [65230269, 65230438], [65232462, 65232631], [65237159, 65237265], [65258447, 65258560], [65260543, 65260683], [65264381, 65264588], [65268780, 65269568]]
ENST00000456757 [[65174972, 65175066], [65179660, 65179825], [65181139, 65181161], [65212235, 65212550]] None
ENST00000544190 [[65174973, 65175066], [65179660, 65179825], [65221614, 65221676], [65222223, 65222289], [65224156, 65224280]] [[65175044, 65175066], [65179660, 65179825], [65221614, 65221676], [65222223, 65222289], [65224156, 65224280]]
ENST00000539867 [[65218351, 65218813], [65221614, 65221676], [65222223, 65222289], [65224156, 65224282], [65225898, 65226084], [65230269, 65230438], [65232462, 65232631], [65237159, 65237265], [65258447, 65258560], [65260543, 65260683], [65264381, 65264588], [65268780, 65269568]] [[65218659, 65218813], [65221614, 65221676], [65222223, 65222289], [65224156, 65224282], [65225898, 65226084], [65230269, 65230438], [65232462, 65232631], [65237159, 65237265], [65258447, 65258560], [65260543, 65260683], [65264381, 65264588], [65268780, 65269568]]
ENST00000544457 [[65218446, 65218813], [65221614, 65221676], [65222223, 65222289], [65225898, 65225985]] [[65218659, 65218813], [65221614, 65221676], [65222223, 65222289], [65225898, 65225985]]
ENST00000539120 [[65218449, 65218494], [65219163, 65219377], [65221614, 65221676], [65222223, 65222289], [65224156, 65224282], [65225898, 65226084], [65230269, 65230291]] [[65224216, 65224282], [65225898, 65226084], [65230269, 65230291]]
NM_001330187 [[65153276, 65153429], [65179660, 65179825], [65181139, 65181161], [65221614, 65221676], [65222223, 65222289], [65224156, 65224282], [65225898, 65226084], [65230269, 65230438], [65232462, 65232631], [65237159, 65237265], [65258447, 65258560], [65260543, 65260683], [65264381, 65264588], [65268780, 65274802]] [[65224216, 65224282], [65225898, 65226084], [65230269, 65230438], [65232462, 65232631], [65237159, 65237265], [65258447, 65258560], [65260543, 65260683], [65264381, 65264588], [65268780, 65269568]]
NM_001330188 [[65174972, 65175066], [65179660, 65179825], [65181139, 65181161], [65221614, 65221676], [65222223, 65222289], [65224156, 65224282], [65225898, 65226084], [65230269, 65230438], [65232462, 65232631], [65237159, 65237265], [65258447, 65258560], [65260543, 65260683], [65264381, 65264588], [65268780, 65274802]] [[65224216, 65224282], [65225898, 65226084], [65230269, 65230438], [65232462, 65232631], [65237159, 65237265], [65258447, 65258560], [65260543, 65260683], [65264381, 65264588], [65268780, 65269568]]
NM_001330186 [[65218351, 65218813], [65221614, 65221676], [65222223, 65222289], [65224156, 65224282], [65225898, 65226084], [65230269, 65230438], [65232462, 65232631], [65237159, 65237265], [65258447, 65258560], [65260543, 65260683], [65264381, 65264588], [65268852, 65274802]] [[65218659, 65218813], [65221614, 65221676], [65222223, 65222289], [65224156, 65224282], [65225898, 65226084], [65230269, 65230438], [65232462, 65232631], [65237159, 65237265], [65258447, 65258560], [65260543, 65260683], [65264381, 65264588], [65268852, 65269568]]
NM_015279 [[65218351, 65218813], [65221614, 65221676], [65222223, 65222289], [65224156, 65224282], [65225898, 65226084], [65230269, 65230438], [65232462, 65232631], [65237159, 65237265], [65258447, 65258560], [65260543, 65260683], [65264381, 65264588], [65268780, 65274802]] [[65218659, 65218813], [65221614, 65221676], [65222223, 65222289], [65224156, 65224282], [65225898, 65226084], [65230269, 65230438], [65232462, 65232631], [65237159, 65237265], [65258447, 65258560], [65260543, 65260683], [65264381, 65264588], [65268780, 65269568]]
Promoter
Chrom Start End Description
chr12 65174246 65174307 CAGE_peak_3_at_TBC1D30_5end
chr12 65174364 65174390 CAGE_peak_4_at_TBC1D30_5end
chr12 65174519 65174584 CAGE_peak_2_at_TBC1D30_5end
chr12 65218382 65218457 CAGE_peak_1_at_TBC1D30_5end
chr12 65218487 65218501 CAGE_peak_7_at_TBC1D30_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I064800 64800618 64801053 0.65 [{'connected_gene': 'TBK1', 'score': 11.42}, {'connected_gene': 'RNU6-166P', 'score': 10.6}, {'connected_gene': 'RASSF3', 'score': 2.47}, {'connected_gene': 'LEMD3', 'score': 1.65}, {'connected_gene': 'GNS', 'score': 1.35}, {'connected_gene': 'TBC1D30', 'score': 0.37}, {'connected_gene': 'GC12M064868', 'score': 0.2}, {'connected_gene': 'GC12P064723', 'score': 0.18}, {'connected_gene': 'GC12P064711', 'score': 0.17}]
chr12 GH12I064826 64826341 64826610 0.76 [{'connected_gene': 'GNS', 'score': 16.28}, {'connected_gene': 'GC12M064868', 'score': 0.26}, {'connected_gene': 'TBC1D30', 'score': 0.25}, {'connected_gene': 'GC12P064711', 'score': 0.14}]
chr12 GH12I064778 64778396 64783090 1.73 [{'connected_gene': 'TBC1D30', 'score': 550.77}, {'connected_gene': 'TBK1', 'score': 29.91}, {'connected_gene': 'GNS', 'score': 20.07}, {'connected_gene': 'PABPC1P4', 'score': 18.76}, {'connected_gene': 'LEMD3', 'score': 16.52}, {'connected_gene': 'LOC100420899', 'score': 9.8}, {'connected_gene': 'RASSF3', 'score': 3.65}, {'connected_gene': 'GC12P064764', 'score': 0.37}, {'connected_gene': 'ENSG00000215159', 'score': 0.34}, {'connected_gene': 'GC12P064723', 'score': 0.21}, {'connected_gene': 'GC12P064711', 'score': 0.2}]
chr12 GH12I064824 64824154 64826041 1.39 [{'connected_gene': 'TBC1D30', 'score': 550.26}, {'connected_gene': 'LEMD3', 'score': 11.62}, {'connected_gene': 'LOC100420899', 'score': 11.11}, {'connected_gene': 'TBK1', 'score': 10.79}, {'connected_gene': 'ENSG00000250280', 'score': 10.33}, {'connected_gene': 'RNU6-166P', 'score': 9.75}, {'connected_gene': 'GC12M064868', 'score': 0.26}, {'connected_gene': 'GC12P064711', 'score': 0.14}]
chr12 GH12I064796 64796119 64796970 0.88 [{'connected_gene': 'TBC1D30', 'score': 0.37}, {'connected_gene': 'GC12M064868', 'score': 0.19}, {'connected_gene': 'GC12P064723', 'score': 0.18}, {'connected_gene': 'GC12P064711', 'score': 0.18}]
chr12 GH12I064818 64818421 64818570 0.74 [{'connected_gene': 'RNU6-166P', 'score': 10.79}, {'connected_gene': 'TBC1D30', 'score': 0.28}, {'connected_gene': 'GC12M064868', 'score': 0.23}, {'connected_gene': 'GC12P064711', 'score': 0.14}]
chr12 GH12I064797 64797321 64797430 0.73 [{'connected_gene': 'RNU6-166P', 'score': 10.6}, {'connected_gene': 'TBC1D30', 'score': 0.37}, {'connected_gene': 'GC12M064868', 'score': 0.19}, {'connected_gene': 'GC12P064723', 'score': 0.18}, {'connected_gene': 'GC12P064711', 'score': 0.17}]
chr12 GH12I064868 64868718 64868871 0.22 [{'connected_gene': 'RPL7P39', 'score': 550.77}, {'connected_gene': 'GC12M064868', 'score': 550.77}, {'connected_gene': 'LINC02389', 'score': 0.39}, {'connected_gene': 'TBC1D30', 'score': 0.17}, {'connected_gene': 'GC12P064711', 'score': 0.1}]

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