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
ENST00000591142 [[2037469, 2037828], [2040132, 2040176], [2041038, 2041203], [2041838, 2042139]] [[2037737, 2037828], [2040132, 2040176], [2041038, 2041203], [2041838, 2042015]]
ENST00000591601 [[2037469, 2039855], [2040132, 2040176], [2041038, 2041203], [2041838, 2042033], [2042425, 2042521], [2042605, 2042661], [2042764, 2042869], [2043122, 2043196], [2043501, 2043581], [2046184, 2046282], [2046365, 2046467], [2046602, 2046690], [2050799, 2050886]] [[2039611, 2039855], [2040132, 2040176], [2041038, 2041203], [2041838, 2042033], [2042425, 2042521], [2042605, 2042661], [2042764, 2042869], [2043122, 2043196], [2043501, 2043581], [2046184, 2046282], [2046365, 2046467], [2046602, 2046690], [2050799, 2050850]]
ENST00000309340 [[2037469, 2037828], [2040132, 2040176], [2041038, 2041203], [2041838, 2042033], [2042425, 2042521], [2042605, 2042661], [2042764, 2042869], [2043122, 2043196], [2043501, 2043581], [2046184, 2046282], [2046365, 2046467], [2046602, 2046690], [2050799, 2050946], [2051094, 2051223]] [[2037737, 2037828], [2040132, 2040176], [2041038, 2041203], [2041838, 2042033], [2042425, 2042521], [2042605, 2042661], [2042764, 2042869], [2043122, 2043196], [2043501, 2043581], [2046184, 2046282], [2046365, 2046467], [2046602, 2046690], [2050799, 2050850]]
ENST00000587416 [[2037471, 2041203], [2041838, 2042033], [2042425, 2042521], [2042605, 2042675]] None
ENST00000250896 [[2037480, 2039855], [2040132, 2040176], [2041038, 2041203], [2041838, 2042033], [2042425, 2042521], [2042605, 2042661], [2042764, 2042869], [2043122, 2043196], [2043501, 2043581], [2046184, 2046282], [2046365, 2046467], [2046602, 2046690], [2050799, 2050946], [2051094, 2051243]] [[2039611, 2039855], [2040132, 2040176], [2041038, 2041203], [2041838, 2042033], [2042425, 2042521], [2042605, 2042661], [2042764, 2042869], [2043122, 2043196], [2043501, 2043581], [2046184, 2046282], [2046365, 2046467], [2046602, 2046690], [2050799, 2050850]]
ENST00000589441 [[2037630, 2037828], [2039629, 2039855], [2040132, 2040176], [2041038, 2041206]] [[2037741, 2037828], [2039629, 2039855], [2040132, 2040176], [2041038, 2041206]]
ENST00000541165 [[2039410, 2039855], [2040132, 2040176], [2041038, 2041203], [2041838, 2042033], [2042425, 2042521], [2042605, 2042661], [2042764, 2042869], [2043122, 2043196], [2043501, 2043581], [2046365, 2046467], [2046602, 2046690], [2050799, 2050852]] [[2039611, 2039855], [2040132, 2040176], [2041038, 2041203], [2041838, 2042033], [2042425, 2042521], [2042605, 2042661], [2042764, 2042869], [2043122, 2043196], [2043501, 2043527]]
ENST00000586828 [[2039410, 2039855], [2040132, 2040176], [2041038, 2041203], [2041838, 2042033], [2042425, 2042521], [2042605, 2042661], [2042764, 2042869], [2043122, 2043196], [2043501, 2043581], [2046365, 2046467], [2046602, 2046690], [2050799, 2050852]] [[2043573, 2043581], [2046365, 2046467], [2046602, 2046690], [2050799, 2050850]]
ENST00000591588 [[2039953, 2040176], [2041038, 2041203], [2041838, 2042081]] [[2040128, 2040176], [2041038, 2041203], [2041838, 2042015]]
ENST00000588014 [[2040042, 2040176], [2041038, 2041203], [2041838, 2042033], [2042425, 2042521], [2042605, 2042632]] [[2040128, 2040176], [2041038, 2041203], [2041838, 2042015]]
ENST00000585667 [[2040130, 2040176], [2041038, 2041203], [2041838, 2042033], [2042425, 2042521], [2042605, 2042869], [2043122, 2043196], [2043501, 2043531]] None
ENST00000586620 [[2040782, 2041203], [2041838, 2042035]] None
ENST00000588346 [[2042764, 2042869], [2043122, 2043196], [2043497, 2043581], [2046184, 2046282], [2046365, 2046666]] None
ENST00000589534 [[2046487, 2046690], [2050799, 2050946], [2051094, 2051231]] [[2046487, 2046690], [2050799, 2050850]]
ENST00000589509 [[2046515, 2046690], [2050799, 2050946], [2051216, 2051243]] [[2046532, 2046690], [2050799, 2050850]]
NM_199054 [[2037469, 2039855], [2040132, 2040176], [2041038, 2041203], [2041838, 2042033], [2042425, 2042521], [2042605, 2042661], [2042764, 2042869], [2043122, 2043196], [2043501, 2043581], [2046184, 2046282], [2046365, 2046467], [2046602, 2046690], [2050799, 2050946], [2051094, 2051243]] [[2039611, 2039855], [2040132, 2040176], [2041038, 2041203], [2041838, 2042033], [2042425, 2042521], [2042605, 2042661], [2042764, 2042869], [2043122, 2043196], [2043501, 2043581], [2046184, 2046282], [2046365, 2046467], [2046602, 2046690], [2050799, 2050850]]
NM_017572 [[2037469, 2037828], [2040132, 2040176], [2041038, 2041203], [2041838, 2042033], [2042425, 2042521], [2042605, 2042661], [2042764, 2042869], [2043122, 2043196], [2043501, 2043581], [2046184, 2046282], [2046365, 2046467], [2046602, 2046690], [2050799, 2050946], [2051094, 2051243]] [[2037737, 2037828], [2040132, 2040176], [2041038, 2041203], [2041838, 2042033], [2042425, 2042521], [2042605, 2042661], [2042764, 2042869], [2043122, 2043196], [2043501, 2043581], [2046184, 2046282], [2046365, 2046467], [2046602, 2046690], [2050799, 2050850]]
Promoter
Chrom Start End Description
chr19 2039028 2039048 CAGE_peak_10_at_MKNK2_5end
chr19 2039073 2039085 CAGE_peak_25_at_MKNK2_5end
chr19 2039415 2039452 CAGE_peak_3_at_MKNK2_5end
chr19 2039567 2039629 CAGE_peak_4_at_MKNK2_5end
chr19 2041159 2041180 CAGE_peak_9_at_MKNK2_5end
chr19 2041931 2041945 CAGE_peak_11_at_MKNK2_5end
chr19 2041992 2042006 CAGE_peak_7_at_MKNK2_5end
chr19 2042012 2042062 CAGE_peak_2_at_MKNK2_5end
chr19 2042065 2042114 CAGE_peak_6_at_MKNK2_5end
chr19 2046239 2046257 CAGE_peak_8_at_MKNK2_5end
chr19 2046441 2046457 CAGE_peak_20_at_MKNK2_5end
chr19 2050871 2050895 CAGE_peak_5_at_MKNK2_5end
chr19 2050896 2050906 CAGE_peak_36_at_MKNK2_5end
chr19 2051235 2051252 CAGE_peak_1_at_MKNK2_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 GH19I001935 1935142 1936808 1.33 [{'connected_gene': 'SF3A2', 'score': 17.29}, {'connected_gene': 'MUM1', 'score': 16.19}, {'connected_gene': 'DAZAP1', 'score': 15.19}, {'connected_gene': 'LOC100288123', 'score': 14.24}, {'connected_gene': 'TMEM259', 'score': 14.04}, {'connected_gene': 'TCF3', 'score': 13.9}, {'connected_gene': 'CIRBP', 'score': 12.81}, {'connected_gene': 'MKNK2', 'score': 12.36}, {'connected_gene': 'BTBD2', 'score': 12.33}, {'connected_gene': 'KLF16', 'score': 11.8}, {'connected_gene': 'SPPL2B', 'score': 11.65}, {'connected_gene': 'REXO1', 'score': 11.23}, {'connected_gene': 'ATP8B3', 'score': 11.18}, {'connected_gene': 'GRIN3B', 'score': 10.87}, {'connected_gene': 'DOT1L', 'score': 10.56}, {'connected_gene': 'ZNF555', 'score': 10.46}, {'connected_gene': 'LMNB2', 'score': 9.85}, {'connected_gene': 'AP3D1', 'score': 9.74}, {'connected_gene': 'CSNK1G2-AS1', 'score': 7.25}, {'connected_gene': 'GC19P001933', 'score': 0.77}, {'connected_gene': 'LOC105372238', 'score': 0.77}]
chr19 GH19I002064 2064028 2068185 1.37 [{'connected_gene': 'BTBD2', 'score': 12.97}, {'connected_gene': 'KLF16', 'score': 11.24}, {'connected_gene': 'MOB3A', 'score': 6.58}, {'connected_gene': 'MKNK2', 'score': 1.57}, {'connected_gene': 'GC19M002058', 'score': 0.77}, {'connected_gene': 'GC19P002080', 'score': 0.39}]
chr19 GH19I002326 2326745 2334991 2.55 [{'connected_gene': 'LSM7', 'score': 581.27}, {'connected_gene': 'SPPL2B', 'score': 569.58}, {'connected_gene': 'REXO1', 'score': 3.1}, {'connected_gene': 'MKNK2', 'score': 2.59}, {'connected_gene': 'GNG7', 'score': 2.2}, {'connected_gene': 'CSNK1G2', 'score': 1.71}, {'connected_gene': 'PIR56954', 'score': 0.39}, {'connected_gene': 'ENSG00000273734', 'score': 0.21}]
chr19 GH19I002738 2738342 2740712 2.11 [{'connected_gene': 'SLC39A3', 'score': 562.68}, {'connected_gene': 'ENSG00000267001', 'score': 550.77}, {'connected_gene': 'GC19P002738', 'score': 550.77}, {'connected_gene': 'SF3A2', 'score': 35.22}, {'connected_gene': 'LOC100288123', 'score': 28.41}, {'connected_gene': 'ZNF77', 'score': 24.69}, {'connected_gene': 'CACTIN-AS1', 'score': 24.41}, {'connected_gene': 'DOT1L', 'score': 22.48}, {'connected_gene': 'ZNF555', 'score': 19.88}, {'connected_gene': 'CACTIN', 'score': 19.88}, {'connected_gene': 'GNA11', 'score': 19.8}, {'connected_gene': 'THOP1', 'score': 13.51}, {'connected_gene': 'ZNF554', 'score': 13.19}, {'connected_gene': 'TLE2', 'score': 12.05}, {'connected_gene': 'DIRAS1', 'score': 11.65}, {'connected_gene': 'ENSG00000267139', 'score': 11.52}, {'connected_gene': 'ATP8B3', 'score': 11.25}, {'connected_gene': 'SPPL2B', 'score': 10.54}, {'connected_gene': 'ENSG00000267283', 'score': 10.32}, {'connected_gene': 'MKNK2', 'score': 4.46}]
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 GH19I002037 2037485 2038768 0.67 [{'connected_gene': 'MKNK2', 'score': 7.02}, {'connected_gene': 'BTBD2', 'score': 0.77}]
chr19 GH19I002750 2750338 2751891 0.2 [{'connected_gene': 'MKNK2', 'score': 4.58}, {'connected_gene': 'GC19M002753', 'score': 0.77}, {'connected_gene': 'GC19P002744', 'score': 0.44}]
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 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}]
chr19 GH19I001988 1988582 1988731 0.2 [{'connected_gene': 'ENSG00000267283', 'score': 558.79}, {'connected_gene': 'PIR36928', 'score': 550.77}, {'connected_gene': 'CSNK1G2-AS1', 'score': 13.13}, {'connected_gene': 'BTBD2', 'score': 13.05}, {'connected_gene': 'CSNK1G2', 'score': 12.74}, {'connected_gene': 'MKNK2', 'score': 12.19}]
chr19 GH19I001979 1979509 1982010 0.54 [{'connected_gene': 'GC19P001982', 'score': 550.77}, {'connected_gene': 'CSNK1G2-AS1', 'score': 13.15}, {'connected_gene': 'BTBD2', 'score': 13.03}, {'connected_gene': 'CSNK1G2', 'score': 12.77}, {'connected_gene': 'MKNK2', 'score': 12.18}, {'connected_gene': 'ENSG00000267283', 'score': 8.6}]

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