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
ENST00000520125 [[21881635, 21881768], [21882234, 21882341], [21882726, 21882817], [21882946, 21883032], [21883157, 21883283], [21890640, 21890667]] [[21882759, 21882817], [21882946, 21883032], [21883157, 21883283], [21890640, 21890667]]
ENST00000521157 [[21881635, 21881768], [21882234, 21882817], [21882946, 21883032], [21883157, 21883283], [21890640, 21890734], [21891619, 21891786], [21892020, 21892055], [21894003, 21894037], [21894148, 21894374]] [[21882759, 21882817], [21882946, 21883032], [21883157, 21883283], [21890640, 21890734], [21891619, 21891786], [21892020, 21892055], [21894003, 21894037], [21894148, 21894193]]
ENST00000397940 [[21881644, 21882134], [21882234, 21882817], [21882946, 21883032], [21883157, 21883283], [21890640, 21890734], [21891619, 21891786], [21892020, 21892055], [21894003, 21894037], [21894148, 21894407]] [[21882759, 21882817], [21882946, 21883032], [21883157, 21883283], [21890640, 21890734], [21891619, 21891786], [21892020, 21892055], [21894003, 21894037], [21894148, 21894193]]
ENST00000522813 [[21881647, 21881768], [21882726, 21882817], [21882946, 21883032], [21883157, 21883283], [21890640, 21890734], [21891619, 21891666]] [[21882759, 21882817], [21882946, 21883032], [21883157, 21883283], [21890640, 21890734], [21891619, 21891666]]
ENST00000518119 [[21881944, 21882134], [21882234, 21882341], [21882726, 21882817], [21882946, 21883032], [21883157, 21883283], [21890640, 21890734], [21891619, 21891786], [21892020, 21892055], [21894003, 21894037], [21894148, 21894408]] [[21882759, 21882817], [21882946, 21883032], [21883157, 21883283], [21890640, 21890734], [21891619, 21891786], [21892020, 21892055], [21894003, 21894037], [21894148, 21894193]]
ENST00000520180 [[21882270, 21882341], [21882946, 21883032], [21883157, 21883283], [21890640, 21890734], [21891619, 21891659]] None
ENST00000289820 [[21882353, 21882560], [21882726, 21882817], [21882946, 21883032], [21883157, 21883283], [21890640, 21890734], [21891619, 21891786], [21892020, 21892055], [21894003, 21894037], [21894148, 21894408]] [[21882759, 21882817], [21882946, 21883032], [21883157, 21883283], [21890640, 21890734], [21891619, 21891786], [21892020, 21892055], [21894003, 21894037], [21894148, 21894193]]
ENST00000381530 [[21882361, 21882560], [21882726, 21882817], [21882946, 21883032], [21883157, 21883283], [21890640, 21890734], [21892020, 21892055], [21894003, 21894037], [21894148, 21894408]] [[21882759, 21882817], [21882946, 21883032], [21883157, 21883283], [21890640, 21890734], [21892020, 21892055], [21894003, 21894015]]
ENST00000522953 [[21890611, 21890734], [21891619, 21891786], [21892020, 21892055], [21894003, 21894051]] None
ENST00000520456 [[21891618, 21891786], [21892020, 21892055], [21894003, 21894037], [21894148, 21894408]] None
ENST00000519373 [[21891729, 21891786], [21892020, 21892055], [21893868, 21894037], [21894148, 21894407]] None
ENST00000524322 [[21894001, 21894037], [21894148, 21894290]] None
NM_001286680 [[21881620, 21882134], [21882234, 21882341], [21882726, 21882817], [21882946, 21883032], [21883157, 21883283], [21890640, 21890734], [21891619, 21891786], [21892020, 21892055], [21894003, 21894037], [21894148, 21894408]] [[21882759, 21882817], [21882946, 21883032], [21883157, 21883283], [21890640, 21890734], [21891619, 21891786], [21892020, 21892055], [21894003, 21894037], [21894148, 21894193]]
NM_001286681 [[21882353, 21882560], [21882726, 21882817], [21882946, 21883032], [21883157, 21883283], [21890640, 21890734], [21892020, 21892055], [21894003, 21894037], [21894148, 21894408]] [[21882759, 21882817], [21882946, 21883032], [21883157, 21883283], [21890640, 21890734], [21892020, 21892055], [21894003, 21894015]]
NM_182795 [[21882353, 21882560], [21882726, 21882817], [21882946, 21883032], [21883157, 21883283], [21890640, 21890734], [21891619, 21891786], [21892020, 21892055], [21894003, 21894037], [21894148, 21894408]] [[21882759, 21882817], [21882946, 21883032], [21883157, 21883283], [21890640, 21890734], [21891619, 21891786], [21892020, 21892055], [21894003, 21894037], [21894148, 21894193]]
Promoter
Chrom Start End Description
chr8 21881602 21881612 CAGE_peak_4_at_NPM2_5end
chr8 21881639 21881651 CAGE_peak_2_at_NPM2_5end
chr8 21881661 21881729 CAGE_peak_1_at_NPM2_5end
chr8 21881739 21881750 CAGE_peak_3_at_NPM2_5end
chr8 21882244 21882260 CAGE_peak_7_at_NPM2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I022202 22202827 22206671 0.96 [{'connected_gene': 'PHYHIP', 'score': 11.62}, {'connected_gene': 'POLR3D', 'score': 11.57}, {'connected_gene': 'MIR320A', 'score': 11.57}, {'connected_gene': 'BMP1', 'score': 11.52}, {'connected_gene': 'SFTPC', 'score': 11.51}, {'connected_gene': 'LGI3', 'score': 10.76}, {'connected_gene': 'NPM2', 'score': 10.09}, {'connected_gene': 'LOC105379319', 'score': 0.39}]
chr8 GH08I021907 21907528 21915376 2.11 [{'connected_gene': 'DOK2', 'score': 550.77}, {'connected_gene': 'FGF17', 'score': 17.44}, {'connected_gene': 'NPM2', 'score': 11.35}, {'connected_gene': 'HR', 'score': 11.35}, {'connected_gene': 'GFRA2', 'score': 7.15}, {'connected_gene': 'GC08M021903', 'score': 0.44}]
chr8 GH08I021915 21915390 21915400 0.92 [{'connected_gene': 'DOK2', 'score': 550.77}, {'connected_gene': 'NPM2', 'score': 11.07}, {'connected_gene': 'FGF17', 'score': 11.05}, {'connected_gene': 'XPO7', 'score': 0.77}]
chr8 GH08I021916 21915410 21915579 0.92 [{'connected_gene': 'DOK2', 'score': 550.77}, {'connected_gene': 'NPM2', 'score': 11.07}, {'connected_gene': 'FGF17', 'score': 11.05}, {'connected_gene': 'XPO7', 'score': 0.77}]
chr8 GH08I022030 22030179 22031639 0.95 [{'connected_gene': 'FGF17', 'score': 6.76}, {'connected_gene': 'DMTN', 'score': 5.22}, {'connected_gene': 'NPM2', 'score': 0.44}]
chr8 GH08I022036 22036890 22037059 1.03 [{'connected_gene': 'FGF17', 'score': 0.77}, {'connected_gene': 'NPM2', 'score': 0.39}]
chr8 GH08I022172 22172168 22172397 0.72 [{'connected_gene': 'BMP1', 'score': 16.36}, {'connected_gene': 'REEP4', 'score': 11.12}, {'connected_gene': 'NPM2', 'score': 10.44}, {'connected_gene': 'LOC101929237', 'score': 8.98}, {'connected_gene': 'ENSG00000177725', 'score': 0.77}, {'connected_gene': 'LOC105379319', 'score': 0.37}]
chr8 GH08I022223 22223843 22225204 0.84 [{'connected_gene': 'BMP1', 'score': 10.97}, {'connected_gene': 'SFTPC', 'score': 10.95}, {'connected_gene': 'NPM2', 'score': 10.52}, {'connected_gene': 'ENSG00000251034', 'score': 9.47}, {'connected_gene': 'SORBS3', 'score': 9.47}, {'connected_gene': 'PIWIL2', 'score': 6.59}, {'connected_gene': 'PHYHIP', 'score': 6.4}, {'connected_gene': 'LOC105379319', 'score': 0.29}]
chr8 GH08I022164 22164364 22171141 2.39 [{'connected_gene': 'BMP1', 'score': 578.33}, {'connected_gene': 'ENSG00000177725', 'score': 550.77}, {'connected_gene': 'C8orf58', 'score': 15.25}, {'connected_gene': 'FAM160B2', 'score': 15.12}, {'connected_gene': 'ENSG00000253200', 'score': 14.99}, {'connected_gene': 'LOC107986927', 'score': 12.83}, {'connected_gene': 'SORBS3', 'score': 12.66}, {'connected_gene': 'REEP4', 'score': 11.42}, {'connected_gene': 'NPM2', 'score': 10.59}, {'connected_gene': 'POLR3D', 'score': 10.34}, {'connected_gene': 'LOC101929237', 'score': 8.98}, {'connected_gene': 'XPO7', 'score': 5.82}, {'connected_gene': 'SFTPC', 'score': 0.39}]
chr8 GH08I022176 22176908 22177057 0.31 [{'connected_gene': 'SFTPC', 'score': 11.19}, {'connected_gene': 'NPM2', 'score': 10.37}, {'connected_gene': 'ENSG00000177725', 'score': 0.44}, {'connected_gene': 'BMP1', 'score': 0.39}, {'connected_gene': 'LOC105379319', 'score': 0.39}]
chr8 GH08I022439 22439557 22449773 2.73 [{'connected_gene': 'PPP3CC', 'score': 573.7}, {'connected_gene': 'ENSG00000253200', 'score': 36.3}, {'connected_gene': 'CCAR2', 'score': 35.33}, {'connected_gene': 'C8orf58', 'score': 24.03}, {'connected_gene': 'SORBS3', 'score': 21.55}, {'connected_gene': 'ENSG00000251034', 'score': 21.41}, {'connected_gene': 'FAM160B2', 'score': 15.43}, {'connected_gene': 'POLR3D', 'score': 14.76}, {'connected_gene': 'BIN3', 'score': 14.03}, {'connected_gene': 'XPO7', 'score': 11.69}, {'connected_gene': 'PDLIM2', 'score': 10.41}, {'connected_gene': 'ENSG00000248235', 'score': 10.4}, {'connected_gene': 'BTF3P3', 'score': 8.58}, {'connected_gene': 'NPM2', 'score': 1.43}]
chr8 GH08I022009 22009601 22011400 1.53 [{'connected_gene': 'GFRA2', 'score': 7.41}, {'connected_gene': 'NPM2', 'score': 3.65}, {'connected_gene': 'PHYHIP', 'score': 2.75}, {'connected_gene': 'DMTN', 'score': 2.54}, {'connected_gene': 'LGI3', 'score': 2.02}, {'connected_gene': 'PIR59461', 'score': 0.44}, {'connected_gene': 'GC08P022006', 'score': 0.44}]
chr8 GH08I021917 21917950 21922279 2.36 [{'connected_gene': 'XPO7', 'score': 550.77}, {'connected_gene': 'ENSG00000253200', 'score': 26.09}, {'connected_gene': 'BIN3', 'score': 24.94}, {'connected_gene': 'FGF17', 'score': 16.85}, {'connected_gene': 'FAM160B2', 'score': 13.78}, {'connected_gene': 'NPM2', 'score': 13.25}, {'connected_gene': 'C8orf58', 'score': 10.53}, {'connected_gene': 'POLR3D', 'score': 9.95}, {'connected_gene': 'GFRA2', 'score': 8.38}, {'connected_gene': 'DMTN', 'score': 5.33}, {'connected_gene': 'DOK2', 'score': 1.55}, {'connected_gene': 'PHYHIP', 'score': 1.29}, {'connected_gene': 'GC08P021924', 'score': 0.77}]
chr8 GH08I022700 22700275 22706271 1.66 [{'connected_gene': 'XPO7', 'score': 15.37}, {'connected_gene': 'BIN3', 'score': 14.21}, {'connected_gene': 'CCAR2', 'score': 13.8}, {'connected_gene': 'ENSG00000253200', 'score': 10.43}, {'connected_gene': 'NPM2', 'score': 4.67}, {'connected_gene': 'TNFRSF10C', 'score': 3.88}, {'connected_gene': 'PDLIM2', 'score': 3.17}, {'connected_gene': 'TNFRSF10B', 'score': 2.66}, {'connected_gene': 'PPP3CC', 'score': 1.91}, {'connected_gene': 'EGR3', 'score': 1.87}, {'connected_gene': 'GC08P022700', 'score': 0.77}, {'connected_gene': 'ENSG00000253125', 'score': 0.39}, {'connected_gene': 'GC08M022705', 'score': 0.23}]
chr8 GH08I021971 21971054 21971819 0.72 [{'connected_gene': 'XPO7', 'score': 12.21}, {'connected_gene': 'NPM2', 'score': 11.72}, {'connected_gene': 'FGF17', 'score': 11.1}, {'connected_gene': 'GC08M021982', 'score': 0.37}, {'connected_gene': 'GC08P021924', 'score': 0.25}]
chr8 GH08I022182 22182688 22182837 0.31 [{'connected_gene': 'LGI3', 'score': 11.6}, {'connected_gene': 'SFTPC', 'score': 11.6}, {'connected_gene': 'FGF17', 'score': 10.24}, {'connected_gene': 'NPM2', 'score': 10.24}, {'connected_gene': 'LOC100507071', 'score': 10.15}, {'connected_gene': 'PIWIL2', 'score': 10.15}, {'connected_gene': 'LOC101929237', 'score': 8.76}, {'connected_gene': 'LOC105379319', 'score': 0.44}, {'connected_gene': 'ENSG00000177725', 'score': 0.39}, {'connected_gene': 'BMP1', 'score': 0.37}]
chr8 GH08I022177 22177355 22180171 1 [{'connected_gene': 'LGI3', 'score': 11.31}, {'connected_gene': 'SFTPC', 'score': 11.31}, {'connected_gene': 'XPO7', 'score': 10.94}, {'connected_gene': 'NPM2', 'score': 10.37}, {'connected_gene': 'FGF17', 'score': 10.25}, {'connected_gene': 'LOC100507071', 'score': 10.14}, {'connected_gene': 'PIWIL2', 'score': 10.14}, {'connected_gene': 'CCAR2', 'score': 10.1}, {'connected_gene': 'BMP1', 'score': 8.89}, {'connected_gene': 'LOC101929237', 'score': 8.76}, {'connected_gene': 'ENSG00000177725', 'score': 0.44}, {'connected_gene': 'LOC105379319', 'score': 0.39}]
chr8 GH08I022023 22023843 22025724 1.52 [{'connected_gene': 'NPM2', 'score': 555.85}, {'connected_gene': 'FGF17', 'score': 0.39}]
chr8 GH08I022027 22027270 22027419 0.54 [{'connected_gene': 'NPM2', 'score': 0.77}, {'connected_gene': 'FGF17', 'score': 0.39}]
chr8 GH08I021766 21766885 21767046 0.53 [{'connected_gene': 'SORBS3', 'score': 11.18}, {'connected_gene': 'GFRA2', 'score': 1.79}, {'connected_gene': 'NPM2', 'score': 1.47}, {'connected_gene': 'PIR47014', 'score': 0.34}, {'connected_gene': 'GC08P021598', 'score': 0.1}]
chr8 GH08I021922 21922850 21922999 0.31 [{'connected_gene': 'GC08P021924', 'score': 550.77}, {'connected_gene': 'NPM2', 'score': 11.26}, {'connected_gene': 'FGF17', 'score': 11.24}, {'connected_gene': 'SFTPC', 'score': 9.93}, {'connected_gene': 'LGI3', 'score': 9.52}, {'connected_gene': 'XPO7', 'score': 0.77}]

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