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
ENST00000582888 [[2269484, 2269743], [2271389, 2271441], [2271442, 2271529], [2271780, 2271953], [2272733, 2272819], [2272970, 2273332]] [[2269597, 2269743], [2271389, 2271441], [2271442, 2271529], [2271780, 2271953], [2272733, 2272819], [2272970, 2273107]]
ENST00000590943 [[2269507, 2269743], [2271780, 2271953], [2272733, 2272819], [2272970, 2273487]] [[2269597, 2269743], [2271780, 2271793]]
ENST00000592787 [[2269513, 2269743], [2271383, 2271529], [2271780, 2272261]] None
ENST00000602676 [[2269518, 2269743], [2271383, 2271441], [2271442, 2271529], [2271780, 2271953], [2272733, 2272819], [2272970, 2273487]] [[2269597, 2269743], [2271383, 2271441], [2271442, 2271529], [2271780, 2271953], [2272733, 2272819], [2272970, 2273107]]
ENST00000322297 [[2269519, 2269743], [2271383, 2271438], [2271442, 2271529], [2271780, 2271953], [2272733, 2272819], [2272970, 2273487]] [[2269597, 2269743], [2271383, 2271438], [2271442, 2271529], [2271780, 2271953], [2272733, 2272819], [2272970, 2273107]]
ENST00000583542 [[2269523, 2269743], [2271383, 2271441], [2271442, 2271529], [2271780, 2271953], [2272709, 2272819], [2272970, 2273487]] [[2269597, 2269743], [2271383, 2271441], [2271442, 2271529], [2271780, 2271953], [2272709, 2272819], [2272970, 2273107]]
ENST00000581150 [[2269528, 2269743], [2271383, 2271953], [2272733, 2272819], [2272970, 2273220]] None
ENST00000593012 [[2269547, 2269743], [2271383, 2271953], [2272733, 2273324]] None
ENST00000588673 [[2270289, 2270675], [2271383, 2271529], [2271780, 2271953], [2272733, 2272819], [2272970, 2273173]] [[2270443, 2270675], [2271383, 2271529], [2271780, 2271953], [2272733, 2272819], [2272970, 2273107]]
ENST00000586054 [[2270655, 2273487]] None
ENST00000589361 [[2271317, 2271953], [2272733, 2272776]] None
ENST00000592727 [[2271360, 2271529], [2271780, 2271953], [2272733, 2272819], [2272970, 2273282]] None
ENST00000589739 [[2272522, 2272819], [2272970, 2273332]] None
NM_001301020 [[2269484, 2269743], [2271389, 2271441], [2271442, 2271529], [2271780, 2271953], [2272733, 2272819], [2272970, 2273487]] [[2269597, 2269743], [2271389, 2271441], [2271442, 2271529], [2271780, 2271953], [2272733, 2272819], [2272970, 2273107]]
NM_004152 [[2269484, 2269743], [2271383, 2271441], [2271442, 2271529], [2271780, 2271953], [2272733, 2272819], [2272970, 2273487]] [[2269597, 2269743], [2271383, 2271441], [2271442, 2271529], [2271780, 2271953], [2272733, 2272819], [2272970, 2273107]]
Promoter
Chrom Start End Description
chr19 2269520 2269526 CAGE_peak_1_at_OAZ1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I002160 2160914 2174566 2.66 [{'connected_gene': 'DOT1L', 'score': 581.78}, {'connected_gene': 'CIRBP', 'score': 36.32}, {'connected_gene': 'ZNF77', 'score': 31.34}, {'connected_gene': 'AP3D1', 'score': 30.24}, {'connected_gene': 'GADD45B', 'score': 24.22}, {'connected_gene': 'LOC100288123', 'score': 20.37}, {'connected_gene': 'TCF3', 'score': 20.22}, {'connected_gene': 'DAZAP1', 'score': 19.82}, {'connected_gene': 'SF3A2', 'score': 15.87}, {'connected_gene': 'ENSG00000267317', 'score': 14.16}, {'connected_gene': 'ZNF554', 'score': 14.07}, {'connected_gene': 'LMNB2', 'score': 12.33}, {'connected_gene': 'RPS15', 'score': 11.8}, {'connected_gene': 'MUM1', 'score': 10.88}, {'connected_gene': 'SPPL2B', 'score': 10.61}, {'connected_gene': 'STK11', 'score': 10.57}, {'connected_gene': 'AMH', 'score': 10.46}, {'connected_gene': 'ZNF555', 'score': 10.39}, {'connected_gene': 'ENSG00000267283', 'score': 10.32}, {'connected_gene': 'LSM7', 'score': 10.27}, {'connected_gene': 'ENSG00000261526', 'score': 10.08}, {'connected_gene': 'TLE2', 'score': 9.93}, {'connected_gene': 'PLEKHJ1', 'score': 9.13}, {'connected_gene': 'IZUMO4', 'score': 7.73}, {'connected_gene': 'CSNK1G2', 'score': 7.06}, {'connected_gene': 'MKNK2', 'score': 6.55}, {'connected_gene': 'REXO1', 'score': 4.03}, {'connected_gene': 'PEAK3', 'score': 2.21}, {'connected_gene': 'OAZ1', 'score': 2.07}, {'connected_gene': 'MOB3A', 'score': 1.57}, {'connected_gene': 'GC19M002173', 'score': 0.39}]
chr19 GH19I001895 1895001 1898670 1.75 [{'connected_gene': 'KLF16', 'score': 12.73}, {'connected_gene': 'LOC100288123', 'score': 6.27}, {'connected_gene': 'DOT1L', 'score': 5.99}, {'connected_gene': 'CSNK1G2', 'score': 1.92}, {'connected_gene': 'OAZ1', 'score': 1.84}, {'connected_gene': 'SCAMP4', 'score': 0.44}, {'connected_gene': 'ABHD17A', 'score': 0.39}]
chr19 GH19I002615 2615802 2633599 1.76 [{'connected_gene': 'ZNF77', 'score': 30.54}, {'connected_gene': 'GADD45B', 'score': 24.29}, {'connected_gene': 'SF3A2', 'score': 13.1}, {'connected_gene': 'RNU6-993P', 'score': 13.0}, {'connected_gene': 'GNA11', 'score': 12.12}, {'connected_gene': 'SLC39A3', 'score': 11.22}, {'connected_gene': 'PEAK3', 'score': 10.85}, {'connected_gene': 'CACTIN-AS1', 'score': 10.16}, {'connected_gene': 'TLE2', 'score': 10.0}, {'connected_gene': 'DOT1L', 'score': 8.25}, {'connected_gene': 'SPPL2B', 'score': 4.61}, {'connected_gene': 'OAZ1', 'score': 4.45}, {'connected_gene': 'GNG7', 'score': 3.17}, {'connected_gene': 'DIRAS1', 'score': 1.9}, {'connected_gene': 'PIR33921', 'score': 0.44}, {'connected_gene': 'MIR7850', 'score': 0.44}, {'connected_gene': 'ENSG00000267214', 'score': 0.44}, {'connected_gene': 'ENSG00000267412', 'score': 0.39}]
chr19 GH19I002506 2506513 2507799 1.71 [{'connected_gene': 'GADD45B', 'score': 15.16}, {'connected_gene': 'DOT1L', 'score': 6.36}, {'connected_gene': 'PEAK3', 'score': 2.08}, {'connected_gene': 'OAZ1', 'score': 1.24}, {'connected_gene': 'RNU6-993P', 'score': 0.77}, {'connected_gene': 'LOC101929097', 'score': 0.44}]
chr19 GH19I002038 2038922 2063128 2.91 [{'connected_gene': 'MKNK2', 'score': 564.18}, {'connected_gene': 'SF3A2', 'score': 32.17}, {'connected_gene': 'DAZAP1', 'score': 29.64}, {'connected_gene': 'ZNF77', 'score': 27.74}, {'connected_gene': 'TCF3', 'score': 21.98}, {'connected_gene': 'CIRBP', 'score': 21.17}, {'connected_gene': 'LOC100288123', 'score': 19.49}, {'connected_gene': 'MUM1', 'score': 19.31}, {'connected_gene': 'DOT1L', 'score': 14.12}, {'connected_gene': 'LMNB2', 'score': 12.32}, {'connected_gene': 'BTBD2', 'score': 12.14}, {'connected_gene': 'ENSG00000268798', 'score': 11.72}, {'connected_gene': 'PLK5', 'score': 10.68}, {'connected_gene': 'STK11', 'score': 10.58}, {'connected_gene': 'RPS15', 'score': 10.57}, {'connected_gene': 'PEAK3', 'score': 9.85}, {'connected_gene': 'MOB3A', 'score': 9.62}, {'connected_gene': 'CSNK1G2', 'score': 7.22}, {'connected_gene': 'ABHD17A', 'score': 4.5}, {'connected_gene': 'REXO1', 'score': 4.43}, {'connected_gene': 'GADD45B', 'score': 2.22}, {'connected_gene': 'OAZ1', 'score': 1.88}, {'connected_gene': 'SCAMP4', 'score': 1.4}, {'connected_gene': 'ADAT3', 'score': 1.4}, {'connected_gene': 'GC19P002053', 'score': 0.77}, {'connected_gene': 'GC19M002058', 'score': 0.39}]
chr19 GH19I001939 1939298 1944736 2.58 [{'connected_gene': 'CSNK1G2', 'score': 564.48}, {'connected_gene': 'LOC105372238', 'score': 550.77}, {'connected_gene': 'KLF16', 'score': 14.48}, {'connected_gene': 'ZNF555', 'score': 11.76}, {'connected_gene': 'SF3A2', 'score': 9.69}, {'connected_gene': 'BTBD2', 'score': 9.27}, {'connected_gene': 'CSNK1G2-AS1', 'score': 8.41}, {'connected_gene': 'PEAK3', 'score': 7.31}, {'connected_gene': 'ENSG00000267283', 'score': 7.15}, {'connected_gene': 'REXO1', 'score': 6.36}, {'connected_gene': 'ENSG00000267122', 'score': 5.65}, {'connected_gene': 'MKNK2', 'score': 3.95}, {'connected_gene': 'MOB3A', 'score': 3.7}, {'connected_gene': 'OAZ1', 'score': 3.13}, {'connected_gene': 'DOT1L', 'score': 2.45}]
chr19 GH19I002079 2079414 2098291 2.64 [{'connected_gene': 'MOB3A', 'score': 561.07}, {'connected_gene': 'IZUMO4', 'score': 558.44}, {'connected_gene': 'SF3A2', 'score': 26.43}, {'connected_gene': 'ZNF77', 'score': 24.9}, {'connected_gene': 'BTBD2', 'score': 22.78}, {'connected_gene': 'CIRBP', 'score': 22.36}, {'connected_gene': 'LOC100288123', 'score': 19.68}, {'connected_gene': 'TCF3', 'score': 19.16}, {'connected_gene': 'DAZAP1', 'score': 18.88}, {'connected_gene': 'MKNK2', 'score': 18.49}, {'connected_gene': 'DOT1L', 'score': 13.39}, {'connected_gene': 'LMNB2', 'score': 12.32}, {'connected_gene': 'TLE2', 'score': 12.02}, {'connected_gene': 'ENSG00000268798', 'score': 11.72}, {'connected_gene': 'RPS15', 'score': 11.16}, {'connected_gene': 'ZNF555', 'score': 11.15}, {'connected_gene': 'CSNK1G2', 'score': 10.91}, {'connected_gene': 'PLK5', 'score': 10.68}, {'connected_gene': 'ENSG00000267317', 'score': 10.63}, {'connected_gene': 'STK11', 'score': 10.57}, {'connected_gene': 'MIDN', 'score': 10.38}, {'connected_gene': 'MUM1', 'score': 9.9}, {'connected_gene': 'PEAK3', 'score': 8.35}, {'connected_gene': 'GADD45B', 'score': 3.53}, {'connected_gene': 'REXO1', 'score': 2.81}, {'connected_gene': 'OAZ1', 'score': 2.01}, {'connected_gene': 'KLF16', 'score': 1.95}, {'connected_gene': 'GC19P002087', 'score': 0.77}, {'connected_gene': 'GC19P002086', 'score': 0.77}, {'connected_gene': 'GC19P002080', 'score': 0.44}]
chr19 GH19I001901 1901466 1906477 2.54 [{'connected_gene': 'SCAMP4', 'score': 557.68}, {'connected_gene': 'ADAT3', 'score': 550.77}, {'connected_gene': 'GC19P001907', 'score': 550.77}, {'connected_gene': 'CIRBP', 'score': 12.19}, {'connected_gene': 'TMEM259', 'score': 11.97}, {'connected_gene': 'SF3A2', 'score': 11.32}, {'connected_gene': 'DAZAP1', 'score': 10.89}, {'connected_gene': 'CSNK1G2', 'score': 3.62}, {'connected_gene': 'DOT1L', 'score': 3.21}, {'connected_gene': 'OAZ1', 'score': 2.91}, {'connected_gene': 'PEAK3', 'score': 2.66}, {'connected_gene': 'ABHD17A', 'score': 0.37}]
chr19 GH19I002268 2268538 2275891 2.52 [{'connected_gene': 'GC19P002271', 'score': 550.77}, {'connected_gene': 'OAZ1', 'score': 550.77}, {'connected_gene': 'GC19M002271', 'score': 550.77}, {'connected_gene': 'SF3A2', 'score': 36.33}, {'connected_gene': 'ZNF77', 'score': 24.0}, {'connected_gene': 'LINGO3', 'score': 13.75}, {'connected_gene': 'TCF3', 'score': 13.73}, {'connected_gene': 'MIR1227', 'score': 12.99}, {'connected_gene': 'DAZAP1', 'score': 12.16}, {'connected_gene': 'MUM1', 'score': 11.13}, {'connected_gene': 'RPS15', 'score': 10.57}, {'connected_gene': 'LOC100288123', 'score': 10.08}, {'connected_gene': 'TLE2', 'score': 9.78}, {'connected_gene': 'JSRP1', 'score': 6.3}, {'connected_gene': 'PEAK3', 'score': 5.55}, {'connected_gene': 'LSM7', 'score': 5.53}, {'connected_gene': 'ENSG00000273734', 'score': 0.77}, {'connected_gene': 'LOC105372240', 'score': 0.77}]
chr19 GH19I002287 2287727 2288040 0.73 [{'connected_gene': 'GC19M002288', 'score': 550.77}, {'connected_gene': 'PEAK3', 'score': 21.14}, {'connected_gene': 'CSNK1G2', 'score': 10.98}, {'connected_gene': 'MOB3A', 'score': 5.93}, {'connected_gene': 'MKNK2', 'score': 4.66}, {'connected_gene': 'KLF16', 'score': 1.96}, {'connected_gene': 'DOT1L', 'score': 1.81}, {'connected_gene': 'OAZ1', 'score': 1.62}, {'connected_gene': 'ENSG00000273734', 'score': 0.37}]