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
ENST00000244333 [[43964938, 43965999], [43967277, 43967439], [43967750, 43967921], [43968476, 43968608], [43969644, 43969812]] [[43965502, 43965999], [43967277, 43967439], [43967750, 43967921], [43968476, 43968608], [43969644, 43969723]]
ENST00000597741 [[43965594, 43965999], [43967277, 43967921], [43968476, 43968608], [43969644, 43969758]] None
ENST00000594326 [[43965952, 43965999], [43967277, 43967439], [43967750, 43968115]] None
ENST00000595970 [[43968156, 43968608], [43969644, 43969760]] None
NM_014400 [[43964945, 43965999], [43967277, 43967439], [43967750, 43967921], [43968476, 43968608], [43969644, 43969831]] [[43965502, 43965999], [43967277, 43967439], [43967750, 43967921], [43968476, 43968608], [43969644, 43969723]]
Promoter
Chrom Start End Description
chr19 43969748 43969768 CAGE_peak_1_at_LYPD3_5end
chr19 43969782 43969794 CAGE_peak_3_at_LYPD3_5end
chr19 43969796 43969813 CAGE_peak_2_at_LYPD3_5end
chr19 43969827 43969834 CAGE_peak_4_at_LYPD3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I043762 43762674 43769281 1.75 [{'connected_gene': 'ZNF180', 'score': 68.59}, {'connected_gene': 'ZNF45', 'score': 56.07}, {'connected_gene': 'PLAUR', 'score': 40.17}, {'connected_gene': 'XRCC1', 'score': 38.07}, {'connected_gene': 'ZNF155', 'score': 36.76}, {'connected_gene': 'ZNF234', 'score': 33.83}, {'connected_gene': 'ZNF225', 'score': 32.74}, {'connected_gene': 'SMG9', 'score': 31.29}, {'connected_gene': 'ZNF224', 'score': 24.12}, {'connected_gene': 'ZNF230', 'score': 18.3}, {'connected_gene': 'ZNF227', 'score': 10.35}, {'connected_gene': 'ZNF284', 'score': 10.1}, {'connected_gene': 'KCNN4', 'score': 5.72}, {'connected_gene': 'IRGQ', 'score': 4.03}, {'connected_gene': 'ZNF222', 'score': 3.66}, {'connected_gene': 'TEX101', 'score': 1.42}, {'connected_gene': 'LYPD3', 'score': 1.2}]
chr19 GH19I043437 43437284 43440704 1.53 [{'connected_gene': 'ZNF45', 'score': 27.52}, {'connected_gene': 'ZNF224', 'score': 24.83}, {'connected_gene': 'ZNF155', 'score': 24.35}, {'connected_gene': 'ZNF234', 'score': 23.54}, {'connected_gene': 'ZNF225', 'score': 22.07}, {'connected_gene': 'ZNF284', 'score': 20.11}, {'connected_gene': 'MRPS15P2', 'score': 17.63}, {'connected_gene': 'ZNF283', 'score': 15.9}, {'connected_gene': 'PHLDB3', 'score': 13.02}, {'connected_gene': 'ZNF112', 'score': 12.57}, {'connected_gene': 'LYPD3', 'score': 12.24}, {'connected_gene': 'ZNF221', 'score': 11.4}, {'connected_gene': 'ZNF223', 'score': 11.12}, {'connected_gene': 'ZNF235', 'score': 10.16}, {'connected_gene': 'ZNF230', 'score': 9.9}, {'connected_gene': 'ZNF575', 'score': 4.41}, {'connected_gene': 'PLAUR', 'score': 2.33}, {'connected_gene': 'KCNN4', 'score': 1.53}, {'connected_gene': 'SMG9', 'score': 1.3}, {'connected_gene': 'GC19M043399', 'score': 0.39}]
chr19 GH19I043425 43425598 43426929 1.02 [{'connected_gene': 'ZNF45', 'score': 16.11}, {'connected_gene': 'ZNF224', 'score': 15.39}, {'connected_gene': 'ZNF234', 'score': 13.82}, {'connected_gene': 'ZNF155', 'score': 13.17}, {'connected_gene': 'LYPD3', 'score': 11.26}, {'connected_gene': 'PHLDB3', 'score': 11.23}, {'connected_gene': 'ZNF284', 'score': 10.46}, {'connected_gene': 'ZNF428', 'score': 9.82}, {'connected_gene': 'GC19M043399', 'score': 0.77}]
chr19 GH19I043502 43502849 43505876 2.02 [{'connected_gene': 'PHLDB3', 'score': 569.81}, {'connected_gene': 'ZNF575', 'score': 27.74}, {'connected_gene': 'ZNF155', 'score': 19.08}, {'connected_gene': 'ZNF224', 'score': 18.67}, {'connected_gene': 'ZNF180', 'score': 17.81}, {'connected_gene': 'ETHE1', 'score': 17.57}, {'connected_gene': 'ZNF45', 'score': 14.7}, {'connected_gene': 'ZNF230', 'score': 14.28}, {'connected_gene': 'ZNF284', 'score': 13.76}, {'connected_gene': 'ZNF234', 'score': 12.68}, {'connected_gene': 'XRCC1', 'score': 12.3}, {'connected_gene': 'LYPD3', 'score': 0.28}]
chr19 GH19I043467 43467639 43470647 1.53 [{'connected_gene': 'ZNF575', 'score': 24.08}, {'connected_gene': 'ZNF225', 'score': 23.26}, {'connected_gene': 'ZNF221', 'score': 15.25}, {'connected_gene': 'ETHE1', 'score': 13.94}, {'connected_gene': 'ZNF576', 'score': 12.97}, {'connected_gene': 'ZNF112', 'score': 12.71}, {'connected_gene': 'ZNF283', 'score': 12.66}, {'connected_gene': 'ZNF223', 'score': 12.43}, {'connected_gene': 'ENSG00000267191', 'score': 11.7}, {'connected_gene': 'MRPS15P2', 'score': 11.65}, {'connected_gene': 'ZNF227', 'score': 11.51}, {'connected_gene': 'ZNF234', 'score': 11.31}, {'connected_gene': 'IRGQ', 'score': 11.25}, {'connected_gene': 'LOC100505715', 'score': 11.01}, {'connected_gene': 'ZNF226', 'score': 11.0}, {'connected_gene': 'ZNF235', 'score': 10.43}, {'connected_gene': 'ZNF222', 'score': 10.33}, {'connected_gene': 'PHLDB3', 'score': 7.27}, {'connected_gene': 'LYPD3', 'score': 0.77}]
chr19 GH19I043487 43487201 43488000 0.38 [{'connected_gene': 'ZNF575', 'score': 13.4}, {'connected_gene': 'PHLDB3', 'score': 10.62}, {'connected_gene': 'LYPD3', 'score': 0.34}]
chr19 GH19I043474 43474371 43477368 1.38 [{'connected_gene': 'ZNF575', 'score': 25.25}, {'connected_gene': 'ETHE1', 'score': 17.29}, {'connected_gene': 'PHLDB3', 'score': 15.9}, {'connected_gene': 'LYPD3', 'score': 0.39}]
chr19 GH19I043462 43462752 43466312 2.39 [{'connected_gene': 'LYPD3', 'score': 565.22}, {'connected_gene': 'ZNF223', 'score': 49.14}, {'connected_gene': 'ZNF225', 'score': 45.61}, {'connected_gene': 'ZNF235', 'score': 43.49}, {'connected_gene': 'ZNF226', 'score': 37.12}, {'connected_gene': 'ZNF227', 'score': 36.46}, {'connected_gene': 'ZNF45', 'score': 34.46}, {'connected_gene': 'ZNF284', 'score': 26.97}, {'connected_gene': 'PINLYP', 'score': 24.77}, {'connected_gene': 'ZNF576', 'score': 24.75}, {'connected_gene': 'ZNF575', 'score': 24.27}, {'connected_gene': 'ZNF234', 'score': 23.39}, {'connected_gene': 'PHLDB3', 'score': 19.38}, {'connected_gene': 'ETHE1', 'score': 15.34}, {'connected_gene': 'ZNF283', 'score': 15.08}, {'connected_gene': 'ZNF155', 'score': 14.93}, {'connected_gene': 'ZNF222', 'score': 13.73}, {'connected_gene': 'ZNF221', 'score': 13.7}, {'connected_gene': 'ZNF224', 'score': 12.97}, {'connected_gene': 'ZNF112', 'score': 12.15}, {'connected_gene': 'MRPS15P2', 'score': 11.65}, {'connected_gene': 'XRCC1', 'score': 10.92}, {'connected_gene': 'SRRM5', 'score': 10.91}, {'connected_gene': 'IRGQ', 'score': 10.91}, {'connected_gene': 'LOC100505715', 'score': 10.58}, {'connected_gene': 'IRGC', 'score': 10.17}, {'connected_gene': 'ZNF230', 'score': 9.9}, {'connected_gene': 'GC19M043399', 'score': 0.26}]
chr19 GH19I043427 43427169 43427318 0.31 [{'connected_gene': 'LYPD3', 'score': 11.26}, {'connected_gene': 'PHLDB3', 'score': 11.23}, {'connected_gene': 'ZNF428', 'score': 9.82}, {'connected_gene': 'GC19M043399', 'score': 0.77}]
chr19 GH19I043457 43457412 43458270 0.67 [{'connected_gene': 'LYPD3', 'score': 11.84}, {'connected_gene': 'PINLYP', 'score': 7.87}, {'connected_gene': 'ZNF575', 'score': 4.34}, {'connected_gene': 'GC19M043399', 'score': 0.29}]
chr19 GH19I043447 43447001 43447401 0.97 [{'connected_gene': 'LYPD3', 'score': 0.37}, {'connected_gene': 'GC19M043399', 'score': 0.34}]
chr19 GH19I043454 43454599 43455019 0.2 [{'connected_gene': 'LYPD3', 'score': 0.39}, {'connected_gene': 'GC19M043399', 'score': 0.29}]
chr19 GH19I043450 43450600 43451001 0.79 [{'connected_gene': 'LYPD3', 'score': 0.39}, {'connected_gene': 'GC19M043399', 'score': 0.31}]
chr19 GH19I043507 43507342 43508238 0.46 [{'connected_gene': 'ETHE1', 'score': 16.01}, {'connected_gene': 'PHLDB3', 'score': 14.86}, {'connected_gene': 'LYPD3', 'score': 6.69}, {'connected_gene': 'IRGQ', 'score': 4.41}, {'connected_gene': 'GC19P043514', 'score': 0.44}]
chr19 GH19I043498 43498531 43499597 0.88 [{'connected_gene': 'ETHE1', 'score': 15.3}, {'connected_gene': 'PHLDB3', 'score': 5.83}, {'connected_gene': 'LYPD3', 'score': 0.29}]
chr19 GH19I043501 43501381 43502591 0.74 [{'connected_gene': 'ETHE1', 'score': 17.55}, {'connected_gene': 'PHLDB3', 'score': 0.77}, {'connected_gene': 'LYPD3', 'score': 0.28}]
chr19 GH19I043455 43455316 43456200 1.04 [{'connected_gene': 'ETHE1', 'score': 11.44}, {'connected_gene': 'LYPD3', 'score': 0.44}, {'connected_gene': 'GC19M043399', 'score': 0.29}]
chr19 GH19I043458 43458327 43458870 0.38 [{'connected_gene': 'ETHE1', 'score': 4.57}, {'connected_gene': 'LYPD3', 'score': 0.44}, {'connected_gene': 'GC19M043399', 'score': 0.29}]
chr19 GH19I043452 43452267 43453181 0.56 [{'connected_gene': 'LOC100505715', 'score': 23.72}, {'connected_gene': 'ZNF285', 'score': 20.52}, {'connected_gene': 'LOC100379224', 'score': 18.71}, {'connected_gene': 'MRPS15P2', 'score': 17.63}, {'connected_gene': 'ZNF45', 'score': 16.87}, {'connected_gene': 'ENSG00000267191', 'score': 16.58}, {'connected_gene': 'ZNF283', 'score': 15.9}, {'connected_gene': 'ZNF225', 'score': 14.16}, {'connected_gene': 'ZNF428', 'score': 13.77}, {'connected_gene': 'ZNF224', 'score': 13.68}, {'connected_gene': 'ZNF112', 'score': 12.57}, {'connected_gene': 'ZNF284', 'score': 11.77}, {'connected_gene': 'ZNF234', 'score': 11.46}, {'connected_gene': 'ZNF221', 'score': 11.41}, {'connected_gene': 'ZNF155', 'score': 11.24}, {'connected_gene': 'ZNF223', 'score': 11.12}, {'connected_gene': 'ZNF233', 'score': 11.1}, {'connected_gene': 'LOC101928063', 'score': 10.7}, {'connected_gene': 'ZNF576', 'score': 10.39}, {'connected_gene': 'ZNF235', 'score': 10.16}, {'connected_gene': 'LYPD3', 'score': 0.39}, {'connected_gene': 'GC19M043399', 'score': 0.31}]
chr19 GH19I043555 43555289 43555468 0.73 [{'connected_gene': 'GC19M043549', 'score': 550.77}, {'connected_gene': 'ENSG00000269177', 'score': 550.77}, {'connected_gene': 'XRCC1', 'score': 27.05}, {'connected_gene': 'PINLYP', 'score': 13.31}, {'connected_gene': 'ZNF576', 'score': 13.23}, {'connected_gene': 'SRRM5', 'score': 13.23}, {'connected_gene': 'IRGQ', 'score': 13.23}, {'connected_gene': 'ZNF227', 'score': 12.15}, {'connected_gene': 'ZNF575', 'score': 12.01}, {'connected_gene': 'ETHE1', 'score': 11.96}, {'connected_gene': 'ZNF428', 'score': 11.42}, {'connected_gene': 'ZNF45', 'score': 11.35}, {'connected_gene': 'ZNF225', 'score': 11.15}, {'connected_gene': 'PHLDB3', 'score': 11.03}, {'connected_gene': 'CADM4', 'score': 10.75}, {'connected_gene': 'LYPD3', 'score': 10.4}, {'connected_gene': 'ZNF155', 'score': 10.16}, {'connected_gene': 'IRGC', 'score': 10.16}, {'connected_gene': 'ENSG00000268361', 'score': 0.28}]
chr19 GH19I043432 43432989 43433118 0.77 [{'connected_gene': 'GC19M043399', 'score': 0.44}, {'connected_gene': 'LYPD3', 'score': 0.29}]
chr19 GH19I043430 43430129 43430406 0.64 [{'connected_gene': 'GC19M043399', 'score': 0.44}, {'connected_gene': 'LYPD3', 'score': 0.28}]

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