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
ENST00000264833 [[9964393, 9965539], [9967482, 9967589], [9967938, 9968158], [9968390, 9968537], [9971320, 9971470], [10046979, 10047228]] [[9964861, 9965539], [9967482, 9967589], [9967938, 9968158], [9968390, 9968537], [9971320, 9971470], [10046979, 10047042]]
ENST00000590841 [[9964420, 9965539], [9967482, 9967589], [9967938, 9968158], [9968390, 9968537], [9968772, 9968844]] [[9964861, 9965539], [9967482, 9967589], [9967938, 9968158], [9968390, 9968516]]
ENST00000592448 [[9965226, 9965539], [9967482, 9967589], [9968062, 9968158], [9968390, 9968537], [9968772, 9968822]] [[9967574, 9967589], [9968062, 9968158], [9968390, 9968516]]
ENST00000593091 [[9965291, 9965539], [9967482, 9967589], [9967938, 9968158], [9968390, 9968537], [9971320, 9971470], [10024158, 10024512]] [[9965291, 9965539], [9967482, 9967589], [9967938, 9968158], [9968390, 9968537], [9971320, 9971470], [10024158, 10024293]]
ENST00000590410 [[9967883, 9968158], [9968390, 9968537], [9971320, 9971470], [10046979, 10047000]] None
NM_001304348 [[9964393, 9965539], [9967482, 9967589], [9967938, 9968158], [9968390, 9968537], [9968772, 9968844]] [[9964861, 9965539], [9967482, 9967589], [9967938, 9968158], [9968390, 9968516]]
NM_001304347 [[9964393, 9965539], [9967482, 9967589], [9967938, 9968158], [9968390, 9968537], [9971320, 9971470], [10024158, 10024381]] [[9964861, 9965539], [9967482, 9967589], [9967938, 9968158], [9968390, 9968537], [9971320, 9971470], [10024158, 10024293]]
NM_058164 [[9964393, 9965539], [9967482, 9967589], [9967938, 9968158], [9968390, 9968537], [9971320, 9971470], [10046979, 10047228]] [[9964861, 9965539], [9967482, 9967589], [9967938, 9968158], [9968390, 9968537], [9971320, 9971470], [10046979, 10047042]]
Promoter
Chrom Start End Description
chr19 9968816 9968862 CAGE_peak_4_at_OLFM2_5end
chr19 10047047 10047080 CAGE_peak_5_at_OLFM2_5end
chr19 10047087 10047098 CAGE_peak_7_at_OLFM2_5end
chr19 10047099 10047125 CAGE_peak_3_at_OLFM2_5end
chr19 10047135 10047164 CAGE_peak_2_at_OLFM2_5end
chr19 10047177 10047201 CAGE_peak_1_at_OLFM2_5end
chr19 10047219 10047235 CAGE_peak_6_at_OLFM2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I009936 9936000 9937674 1.77 [{'connected_gene': 'OLFM2', 'score': 559.48}, {'connected_gene': 'ZNF177', 'score': 16.49}, {'connected_gene': 'ENSG00000267273', 'score': 10.11}, {'connected_gene': 'ENSG00000200237', 'score': 9.82}, {'connected_gene': 'OR7D2', 'score': 5.06}, {'connected_gene': 'ENSG00000267650', 'score': 0.22}]
chr19 GH19I009958 9958036 9959099 0.46 [{'connected_gene': 'OLFM2', 'score': 12.84}, {'connected_gene': 'RDH8', 'score': 12.03}, {'connected_gene': 'COL5A3', 'score': 12.03}, {'connected_gene': 'PDE4A', 'score': 5.32}, {'connected_gene': 'ENSG00000267650', 'score': 0.28}]
chr19 GH19I009913 9913600 9915253 2.23 [{'connected_gene': 'OLFM2', 'score': 564.25}, {'connected_gene': 'RDH8', 'score': 11.2}, {'connected_gene': 'COL5A3', 'score': 11.2}, {'connected_gene': 'ENSG00000267273', 'score': 9.81}, {'connected_gene': 'ZNF266', 'score': 4.76}, {'connected_gene': 'GC19P009927', 'score': 0.39}, {'connected_gene': 'PIR54152', 'score': 0.18}]
chr19 GH19I010018 10018345 10018494 0.31 [{'connected_gene': 'OLFM2', 'score': 11.32}, {'connected_gene': 'RDH8', 'score': 0.44}, {'connected_gene': 'C3P1', 'score': 0.37}]
chr19 GH19I009944 9944581 9946480 1.36 [{'connected_gene': 'OLFM2', 'score': 16.67}, {'connected_gene': 'ZNF846', 'score': 2.06}, {'connected_gene': 'COL5A3', 'score': 1.45}, {'connected_gene': 'ENSG00000267650', 'score': 0.23}]
chr19 GH19I009857 9857201 9859129 1.55 [{'connected_gene': 'OLFM2', 'score': 550.18}, {'connected_gene': 'ZNF266', 'score': 5.45}, {'connected_gene': 'PIR54152', 'score': 0.37}, {'connected_gene': 'GC19P009927', 'score': 0.2}]
chr19 GH19I009952 9952365 9952514 0.52 [{'connected_gene': 'OLFM2', 'score': 0.37}, {'connected_gene': 'ENSG00000267650', 'score': 0.26}]
chr19 GH19I009935 9935810 9935954 0.75 [{'connected_gene': 'OLFM2', 'score': 550.77}, {'connected_gene': 'GC19P009927', 'score': 0.44}]
chr19 GH19I009883 9883236 9883918 0.38 [{'connected_gene': 'ZNF559', 'score': 5.0}, {'connected_gene': 'GC19P009927', 'score': 0.26}, {'connected_gene': 'PIR54152', 'score': 0.25}, {'connected_gene': 'OLFM2', 'score': 0.23}]
chr19 GH19I010071 10071225 10071374 0.62 [{'connected_gene': 'ANGPTL6', 'score': 11.91}, {'connected_gene': 'PPAN-P2RY11', 'score': 11.91}, {'connected_gene': 'PPAN', 'score': 11.91}, {'connected_gene': 'RDH8', 'score': 11.86}, {'connected_gene': 'COL5A3', 'score': 11.84}, {'connected_gene': 'EIF3G', 'score': 11.74}, {'connected_gene': 'OLFM2', 'score': 11.14}, {'connected_gene': 'C19orf66', 'score': 0.39}, {'connected_gene': 'C3P1', 'score': 0.29}, {'connected_gene': 'MIR5589', 'score': 0.29}]
chr19 GH19I009933 9933885 9934770 0.91 [{'connected_gene': 'ZNF177', 'score': 16.49}, {'connected_gene': 'OLFM2', 'score': 14.94}, {'connected_gene': 'ENSG00000267273', 'score': 10.11}, {'connected_gene': 'ENSG00000200237', 'score': 9.83}, {'connected_gene': 'GC19P009927', 'score': 0.44}]
chr19 GH19I009948 9948633 9949140 0.62 [{'connected_gene': 'ZNF177', 'score': 16.49}, {'connected_gene': 'OLFM2', 'score': 12.96}, {'connected_gene': 'ENSG00000267273', 'score': 10.11}, {'connected_gene': 'ENSG00000200237', 'score': 9.82}, {'connected_gene': 'ENSG00000267650', 'score': 0.25}]
chr19 GH19I009869 9869033 9869324 0.48 [{'connected_gene': 'ZNF177', 'score': 2.48}, {'connected_gene': 'ZNF846', 'score': 2.44}, {'connected_gene': 'OLFM2', 'score': 1.31}, {'connected_gene': 'PIR54152', 'score': 0.29}, {'connected_gene': 'GC19P009927', 'score': 0.22}]
chr19 GH19I009986 9986549 9987508 0.2 [{'connected_gene': 'COL5A3', 'score': 23.94}, {'connected_gene': 'RDH8', 'score': 12.3}, {'connected_gene': 'OLFM2', 'score': 12.0}, {'connected_gene': 'C19orf66', 'score': 11.22}, {'connected_gene': 'ENSG00000267650', 'score': 0.44}]
chr19 GH19I009941 9941110 9941974 0.56 [{'connected_gene': 'COL5A3', 'score': 12.28}, {'connected_gene': 'RDH8', 'score': 12.27}, {'connected_gene': 'C19orf66', 'score': 11.38}, {'connected_gene': 'OLFM2', 'score': 0.77}, {'connected_gene': 'ENSG00000267650', 'score': 0.23}]
chr19 GH19I009940 9940854 9940994 0.56 [{'connected_gene': 'COL5A3', 'score': 12.28}, {'connected_gene': 'RDH8', 'score': 12.27}, {'connected_gene': 'C19orf66', 'score': 11.38}, {'connected_gene': 'OLFM2', 'score': 0.77}, {'connected_gene': 'ENSG00000267650', 'score': 0.22}]
chr19 GH19I009930 9930965 9931134 0.77 [{'connected_gene': 'COL5A3', 'score': 12.0}, {'connected_gene': 'RDH8', 'score': 11.99}, {'connected_gene': 'C19orf66', 'score': 10.72}, {'connected_gene': 'GC19P009927', 'score': 0.77}, {'connected_gene': 'OLFM2', 'score': 0.44}]
chr19 GH19I009862 9862131 9863800 0.94 [{'connected_gene': 'ILF3', 'score': 15.0}, {'connected_gene': 'PPAN', 'score': 13.93}, {'connected_gene': 'KRI1', 'score': 13.35}, {'connected_gene': 'ZNF266', 'score': 13.23}, {'connected_gene': 'ZNF561', 'score': 12.99}, {'connected_gene': 'ZNF426', 'score': 12.91}, {'connected_gene': 'ZNF846', 'score': 12.71}, {'connected_gene': 'ZNF699', 'score': 12.09}, {'connected_gene': 'FBXL12', 'score': 11.91}, {'connected_gene': 'LOC100419831', 'score': 10.79}, {'connected_gene': 'EIF3G', 'score': 9.86}, {'connected_gene': 'ZNF317', 'score': 9.83}, {'connected_gene': 'PIR54152', 'score': 0.34}, {'connected_gene': 'GC19P009927', 'score': 0.21}, {'connected_gene': 'OLFM2', 'score': 0.19}]
chr19 GH19I009877 9877905 9878054 0.49 [{'connected_gene': 'PIN1', 'score': 11.94}, {'connected_gene': 'RDH8', 'score': 11.14}, {'connected_gene': 'COL5A3', 'score': 11.14}, {'connected_gene': 'OLFM2', 'score': 10.96}, {'connected_gene': 'PIR54152', 'score': 0.28}, {'connected_gene': 'GC19P009927', 'score': 0.25}]
chr19 GH19I009864 9864386 9865617 0.2 [{'connected_gene': 'ZNF846', 'score': 5.47}, {'connected_gene': 'ZNF561', 'score': 4.76}, {'connected_gene': 'ZNF559', 'score': 4.76}, {'connected_gene': 'PIR54152', 'score': 0.31}, {'connected_gene': 'GC19P009927', 'score': 0.21}, {'connected_gene': 'OLFM2', 'score': 0.19}]
chr19 GH19I009917 9917365 9917601 1.06 [{'connected_gene': 'LOC100128428', 'score': 27.15}, {'connected_gene': 'COL5A3', 'score': 11.95}, {'connected_gene': 'RDH8', 'score': 11.94}, {'connected_gene': 'QTRT1', 'score': 11.48}, {'connected_gene': 'C19orf66', 'score': 10.97}, {'connected_gene': 'OR7D2', 'score': 9.84}, {'connected_gene': 'GC19P009927', 'score': 0.44}, {'connected_gene': 'OLFM2', 'score': 0.37}, {'connected_gene': 'PIR54152', 'score': 0.18}]
chr19 GH19I009906 9906303 9907197 0.2 [{'connected_gene': 'GC19P009927', 'score': 0.34}, {'connected_gene': 'OLFM2', 'score': 0.31}, {'connected_gene': 'PIR54152', 'score': 0.2}]
chr19 GH19I009867 9866001 9866494 0.71 [{'connected_gene': 'PIR54152', 'score': 0.31}, {'connected_gene': 'GC19P009927', 'score': 0.21}, {'connected_gene': 'OLFM2', 'score': 0.19}]
chr19 GH19I009863 9863885 9864034 0.4 [{'connected_gene': 'PIR54152', 'score': 0.31}, {'connected_gene': 'GC19P009927', 'score': 0.21}, {'connected_gene': 'OLFM2', 'score': 0.19}]
chr19 GH19I009866 9866585 9866734 0.51 [{'connected_gene': 'PIR54152', 'score': 0.31}, {'connected_gene': 'GC19P009927', 'score': 0.21}, {'connected_gene': 'OLFM2', 'score': 0.2}]
chr19 GH19I009885 9885265 9885414 0.54 [{'connected_gene': 'GC19P009927', 'score': 0.26}, {'connected_gene': 'PIR54152', 'score': 0.25}, {'connected_gene': 'OLFM2', 'score': 0.23}]
chr19 GH19I009638 9638207 9638495 0.24 [{'connected_gene': 'PIR53474', 'score': 550.77}, {'connected_gene': 'ZNF561', 'score': 29.83}, {'connected_gene': 'OR7D4', 'score': 14.79}, {'connected_gene': 'ZNF846', 'score': 13.13}, {'connected_gene': 'ZNF177', 'score': 5.39}, {'connected_gene': 'OR7E24', 'score': 4.49}, {'connected_gene': 'OLFM2', 'score': 3.65}, {'connected_gene': 'ZNF559', 'score': 2.86}, {'connected_gene': 'ZNF562', 'score': 1.94}, {'connected_gene': 'ZNF426', 'score': 1.55}, {'connected_gene': 'ZNF559-ZNF177', 'score': 1.41}, {'connected_gene': 'PIR44678', 'score': 0.77}, {'connected_gene': 'ZNF561-AS1', 'score': 0.37}]
chr19 GH19I009966 9966625 9966774 0.59 [{'connected_gene': 'ENSG00000267510', 'score': 12.54}, {'connected_gene': 'UBE2L4', 'score': 12.07}, {'connected_gene': 'OLFM2', 'score': 7.4}, {'connected_gene': 'ENSG00000267650', 'score': 0.31}, {'connected_gene': 'COL5A3', 'score': 0.26}]
chr19 GH19I009927 9927510 9927774 0.63 [{'connected_gene': 'GC19P009927', 'score': 550.77}, {'connected_gene': 'COL5A3', 'score': 11.87}, {'connected_gene': 'RDH8', 'score': 11.87}, {'connected_gene': 'C19orf66', 'score': 11.53}, {'connected_gene': 'UBL5', 'score': 11.09}, {'connected_gene': 'MRPL4', 'score': 10.24}, {'connected_gene': 'ICAM1', 'score': 10.24}, {'connected_gene': 'OLFM2', 'score': 0.44}]
chr19 GH19I009666 9666007 9666420 0.32 [{'connected_gene': 'PIR46077', 'score': 550.77}, {'connected_gene': 'ZNF846', 'score': 13.96}, {'connected_gene': 'ZNF559', 'score': 4.92}, {'connected_gene': 'ZNF559-ZNF177', 'score': 2.68}, {'connected_gene': 'OR7D4', 'score': 1.51}, {'connected_gene': 'ZNF121', 'score': 1.39}, {'connected_gene': 'ZNF426', 'score': 1.27}, {'connected_gene': 'OLFM2', 'score': 1.16}, {'connected_gene': 'ZNF177', 'score': 1.15}, {'connected_gene': 'ZNF562', 'score': 0.44}]