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
ENST00000356929 [[21473961, 21477541], [21492047, 21492143], [21493302, 21493429], [21512011, 21512212]] [[21476075, 21477541], [21492047, 21492143], [21493302, 21493429], [21512011, 21512014]]
ENST00000598046 [[21475405, 21477541], [21492047, 21492143], [21510761, 21510943], [21512011, 21512227]] [[21510829, 21510943], [21512011, 21512014]]
ENST00000601295 [[21477197, 21477541], [21492047, 21492143], [21512011, 21512138]] [[21477197, 21477541], [21492047, 21492081]]
ENST00000602023 [[21477344, 21477541], [21489619, 21489743], [21492047, 21492143], [21512011, 21512184]] [[21477344, 21477539]]
NM_001297561 [[21473961, 21477541], [21492047, 21492143], [21512011, 21512214]] [[21476075, 21477541], [21492047, 21492081]]
NM_001297560 [[21473961, 21477541], [21492047, 21492143], [21510761, 21510943], [21512011, 21512241]] [[21476075, 21477541], [21492047, 21492081]]
NM_021269 [[21473962, 21477541], [21492047, 21492143], [21493302, 21493429], [21512011, 21512212]] [[21476075, 21477541], [21492047, 21492143], [21493302, 21493429], [21512011, 21512014]]
Promoter
Chrom Start End Description
chr19 21476394 21476407 CAGE_peak_5_at_ZNF708_5end
chr19 21512115 21512135 CAGE_peak_3_at_ZNF708_5end
chr19 21512144 21512191 CAGE_peak_2_at_ZNF708_5end
chr19 21512202 21512225 CAGE_peak_1_at_ZNF708_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I021474 21474199 21475600 0.74 [{'connected_gene': 'ZNF708', 'score': 18.12}, {'connected_gene': 'LINC00664', 'score': 0.44}, {'connected_gene': 'GC19P021464', 'score': 0.39}, {'connected_gene': 'ENSG00000269237', 'score': 0.2}]
chr19 GH19I021314 21314299 21315636 0.66 [{'connected_gene': 'ZNF708', 'score': 24.19}, {'connected_gene': 'ZNF429', 'score': 7.86}, {'connected_gene': 'ENSG00000213976', 'score': 6.56}, {'connected_gene': 'ZNF493', 'score': 3.25}, {'connected_gene': 'ZNF100', 'score': 2.38}, {'connected_gene': 'ZNF430', 'score': 2.0}, {'connected_gene': 'BNIP3P25', 'score': 0.77}, {'connected_gene': 'GC19M022292', 'score': 0.34}]
chr19 GH19I021328 21328149 21330189 1.96 [{'connected_gene': 'ZNF708', 'score': 574.16}, {'connected_gene': 'LOC105372321', 'score': 30.25}, {'connected_gene': 'ZNF100', 'score': 11.55}, {'connected_gene': 'ZNF43', 'score': 10.63}, {'connected_gene': 'ZNF66', 'score': 10.49}, {'connected_gene': 'ENSG00000213976', 'score': 7.53}, {'connected_gene': 'GC19P021323', 'score': 0.44}]
chr19 GH19I021589 21589648 21590174 0.2 [{'connected_gene': 'ZNF708', 'score': 15.73}, {'connected_gene': 'ENSG00000274503', 'score': 0.77}, {'connected_gene': 'LOC101929007', 'score': 0.77}, {'connected_gene': 'ENSG00000268555', 'score': 0.77}]
chr19 GH19I021482 21482399 21484148 0.59 [{'connected_gene': 'LINC00664', 'score': 550.77}, {'connected_gene': 'ENSG00000268555', 'score': 30.47}, {'connected_gene': 'ZNF708', 'score': 19.17}, {'connected_gene': 'LOC105372321', 'score': 14.67}, {'connected_gene': 'GC19P021464', 'score': 0.37}, {'connected_gene': 'ENSG00000269237', 'score': 0.18}]
chr19 GH19I021504 21504733 21507337 2.28 [{'connected_gene': 'ZNF429', 'score': 577.39}, {'connected_gene': 'ENSG00000268555', 'score': 29.56}, {'connected_gene': 'ZNF708', 'score': 19.94}, {'connected_gene': 'ZNF493', 'score': 4.65}, {'connected_gene': 'ZNF100', 'score': 2.77}, {'connected_gene': 'ZNF430', 'score': 2.32}, {'connected_gene': 'PIR57057', 'score': 0.44}, {'connected_gene': 'PIR58149', 'score': 0.39}]
chr19 GH19I021141 21141125 21144781 1.98 [{'connected_gene': 'ZNF431', 'score': 550.77}, {'connected_gene': 'ZNF100', 'score': 12.96}, {'connected_gene': 'ZNF708', 'score': 12.57}, {'connected_gene': 'ZNF714', 'score': 11.84}, {'connected_gene': 'LOC641367', 'score': 10.93}, {'connected_gene': 'ENSG00000268555', 'score': 10.71}, {'connected_gene': 'LOC105372321', 'score': 6.59}, {'connected_gene': 'ZNF738', 'score': 5.56}, {'connected_gene': 'ZNF429', 'score': 4.7}, {'connected_gene': 'RPL7AP10', 'score': 0.44}]
chr19 GH19I021358 21358339 21360401 1.29 [{'connected_gene': 'ZNF738', 'score': 570.75}, {'connected_gene': 'LOC105372321', 'score': 30.21}, {'connected_gene': 'ZNF708', 'score': 23.7}, {'connected_gene': 'ZNF100', 'score': 22.72}, {'connected_gene': 'LOC641367', 'score': 10.95}, {'connected_gene': 'ZNF43', 'score': 10.64}, {'connected_gene': 'ZNF66', 'score': 10.49}, {'connected_gene': 'ENSG00000213976', 'score': 7.62}, {'connected_gene': 'LOC100422298', 'score': 0.34}]
chr19 GH19I021461 21461848 21464548 1.38 [{'connected_gene': 'LOC105372321', 'score': 563.99}, {'connected_gene': 'GC19P021464', 'score': 550.77}, {'connected_gene': 'ENSG00000268555', 'score': 26.09}, {'connected_gene': 'ZNF708', 'score': 21.0}, {'connected_gene': 'BNIP3P26', 'score': 10.54}, {'connected_gene': 'GC19P021412', 'score': 0.23}, {'connected_gene': 'ENSG00000269237', 'score': 0.22}]
chr19 GH19I021200 21200297 21200999 0.2 [{'connected_gene': 'LOC105372321', 'score': 13.72}, {'connected_gene': 'ZNF708', 'score': 13.25}, {'connected_gene': 'GC19P021189', 'score': 0.39}, {'connected_gene': 'ENSG00000268892', 'score': 0.34}]
chr19 GH19I021196 21196804 21199774 0.84 [{'connected_gene': 'LOC105372321', 'score': 14.41}, {'connected_gene': 'ZNF708', 'score': 12.98}, {'connected_gene': 'GC19P021189', 'score': 0.44}, {'connected_gene': 'ENSG00000268892', 'score': 0.34}]
chr19 GH19I021607 21607371 21609620 0.54 [{'connected_gene': 'ENSG00000268555', 'score': 46.48}, {'connected_gene': 'ZNF708', 'score': 13.37}, {'connected_gene': 'ZNF85', 'score': 5.15}, {'connected_gene': 'GC19P021601', 'score': 0.44}, {'connected_gene': 'GC19P021614', 'score': 0.44}, {'connected_gene': 'LOC105372323', 'score': 0.39}]
chr19 GH19I021322 21322400 21323228 1.11 [{'connected_gene': 'GC19P021323', 'score': 550.77}, {'connected_gene': 'ZNF708', 'score': 31.34}, {'connected_gene': 'ZNF429', 'score': 3.72}, {'connected_gene': 'ZNF493', 'score': 3.31}, {'connected_gene': 'BNIP3P25', 'score': 0.77}]
chr19 GH19I021609 21609730 21610140 0.2 [{'connected_gene': 'ENSG00000268555', 'score': 44.44}, {'connected_gene': 'ZNF708', 'score': 13.22}, {'connected_gene': 'ZNF738', 'score': 7.15}, {'connected_gene': 'GC19P021614', 'score': 0.77}, {'connected_gene': 'GC19P021601', 'score': 0.44}, {'connected_gene': 'LOC105372323', 'score': 0.37}]
chr19 GH19I021597 21597162 21598166 0.2 [{'connected_gene': 'ENSG00000268555', 'score': 58.92}, {'connected_gene': 'ZNF708', 'score': 15.72}, {'connected_gene': 'GC19P021601', 'score': 0.77}, {'connected_gene': 'LOC105372323', 'score': 0.77}]
chr19 GH19I021590 21590317 21591619 0.54 [{'connected_gene': 'ENSG00000274503', 'score': 550.77}, {'connected_gene': 'ZNF708', 'score': 12.07}, {'connected_gene': 'LOC101929007', 'score': 0.77}, {'connected_gene': 'ENSG00000268555', 'score': 0.77}]
chr19 GH19I021220 21220998 21223533 0.31 [{'connected_gene': 'ENSG00000268892', 'score': 550.77}, {'connected_gene': 'ZNF708', 'score': 13.97}, {'connected_gene': 'MTDHP3', 'score': 5.8}, {'connected_gene': 'ZNF429', 'score': 4.67}, {'connected_gene': 'GC19P021189', 'score': 0.29}]
chr19 GH19I021567 21567660 21570235 1.39 [{'connected_gene': 'ENSG00000268081', 'score': 550.77}, {'connected_gene': 'ENSG00000268555', 'score': 62.18}, {'connected_gene': 'ZNF429', 'score': 37.28}, {'connected_gene': 'ZNF708', 'score': 18.6}, {'connected_gene': 'ZNF100', 'score': 13.01}, {'connected_gene': 'LOC641367', 'score': 10.99}, {'connected_gene': 'LINC00664', 'score': 4.99}, {'connected_gene': 'GC19P021564', 'score': 0.77}]
chr19 GH19I021610 21610516 21613339 1.1 [{'connected_gene': 'ENSG00000268555', 'score': 45.12}, {'connected_gene': 'ZNF429', 'score': 19.7}, {'connected_gene': 'ZNF708', 'score': 13.19}, {'connected_gene': 'GC19P021614', 'score': 0.77}, {'connected_gene': 'GC19P021601', 'score': 0.39}, {'connected_gene': 'LOC105372323', 'score': 0.37}]
chr19 GH19I021600 21600212 21605926 1.38 [{'connected_gene': 'GC19P021601', 'score': 550.77}, {'connected_gene': 'ENSG00000268555', 'score': 40.88}, {'connected_gene': 'ZNF429', 'score': 27.8}, {'connected_gene': 'ZNF708', 'score': 12.42}, {'connected_gene': 'LOC105372321', 'score': 10.99}, {'connected_gene': 'ZNF85', 'score': 4.94}, {'connected_gene': 'LOC105372323', 'score': 0.44}, {'connected_gene': 'GC19P021614', 'score': 0.39}]
chr19 GH19I021585 21585183 21585800 0.65 [{'connected_gene': 'ENSG00000268555', 'score': 550.77}, {'connected_gene': 'ZNF429', 'score': 20.92}, {'connected_gene': 'ZNF493', 'score': 4.02}, {'connected_gene': 'ZNF100', 'score': 2.25}, {'connected_gene': 'ZNF708', 'score': 2.1}, {'connected_gene': 'GC19M022315', 'score': 0.77}]
chr19 GH19I021323 21322119 21322268 0.2 [{'connected_gene': 'GC19P021323', 'score': 550.77}, {'connected_gene': 'LOC105372321', 'score': 29.65}, {'connected_gene': 'BNIP3P25', 'score': 0.77}, {'connected_gene': 'ZNF708', 'score': 0.44}]
chr19 GH19I021592 21592325 21595756 0.95 [{'connected_gene': 'ENSG00000274503', 'score': 550.77}, {'connected_gene': 'LOC101929007', 'score': 550.77}, {'connected_gene': 'LOC105372323', 'score': 550.77}, {'connected_gene': 'ENSG00000268555', 'score': 61.63}, {'connected_gene': 'ZNF708', 'score': 15.73}, {'connected_gene': 'LOC105372321', 'score': 14.49}]