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
ENST00000513488 [[47366567, 47367021], [47367090, 47367222]] None
ENST00000508237 [[47366569, 47369057], [47375467, 47376286], [47388673, 47388818], [47389288, 47389404], [47390059, 47390207], [47394727, 47395345], [47399746, 47399870], [47439270, 47439355]] [[47375774, 47376286], [47388673, 47388818], [47389288, 47389404], [47390059, 47390207], [47394727, 47395087]]
ENST00000362063 [[47371926, 47376286], [47388673, 47388818], [47389288, 47389404], [47390059, 47390207], [47394187, 47395345], [47439774, 47439835]] [[47375774, 47376286], [47388673, 47388818], [47389288, 47389404], [47390059, 47390207], [47394187, 47395087]]
ENST00000430262 [[47373360, 47376286], [47388673, 47388818], [47389288, 47389404], [47390059, 47390207], [47394187, 47395345], [47439270, 47439478]] [[47375774, 47376286], [47388673, 47388818], [47389288, 47389404], [47390059, 47390207], [47394187, 47395087]]
NR_135579 [[47366567, 47369057], [47375467, 47376286], [47388673, 47388818], [47389288, 47389404], [47390059, 47390207], [47394727, 47395345], [47399746, 47399870], [47439270, 47439476]] None
NM_001145365 [[47366567, 47376286], [47388673, 47388818], [47389288, 47389404], [47390059, 47390207], [47394187, 47395345], [47439270, 47439476]] [[47375774, 47376286], [47388673, 47388818], [47389288, 47389404], [47390059, 47390207], [47394187, 47395087]]
NM_014897 [[47366567, 47376286], [47388673, 47388818], [47389288, 47389404], [47390059, 47390207], [47394187, 47395345], [47439774, 47439835]] [[47375774, 47376286], [47388673, 47388818], [47389288, 47389404], [47390059, 47390207], [47394187, 47395087]]
Promoter
Chrom Start End Description
chr17 47439327 47439336 CAGE_peak_4_at_ZNF652_5end
chr17 47439343 47439352 CAGE_peak_9_at_ZNF652_5end
chr17 47439354 47439383 CAGE_peak_3_at_ZNF652_5end
chr17 47439437 47439533 CAGE_peak_1_at_ZNF652_5end
chr17 47439568 47439641 CAGE_peak_2_at_ZNF652_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I049190 49190723 49194755 1.71 [{'connected_gene': 'TRQ-TTG1-1', 'score': 550.77}, {'connected_gene': 'ENSG00000262837', 'score': 155.62}, {'connected_gene': 'UBE2Z', 'score': 119.93}, {'connected_gene': 'FAM117A', 'score': 62.8}, {'connected_gene': 'FLJ45513', 'score': 52.73}, {'connected_gene': 'ENSG00000230532', 'score': 44.34}, {'connected_gene': 'KAT7', 'score': 30.69}, {'connected_gene': 'TAC4', 'score': 27.97}, {'connected_gene': 'PICART1', 'score': 27.03}, {'connected_gene': 'CALCOCO2', 'score': 25.22}, {'connected_gene': 'NXPH3', 'score': 18.13}, {'connected_gene': 'B4GALNT2', 'score': 15.14}, {'connected_gene': 'PHOSPHO1', 'score': 12.63}, {'connected_gene': 'SUMO2P17', 'score': 11.94}, {'connected_gene': 'HOXB4', 'score': 10.57}, {'connected_gene': 'SPOP', 'score': 10.47}, {'connected_gene': 'HOXB6', 'score': 10.18}, {'connected_gene': 'SNF8', 'score': 10.17}, {'connected_gene': 'ENSG00000250751', 'score': 10.16}, {'connected_gene': 'LOC101927166', 'score': 9.82}, {'connected_gene': 'SAMD14', 'score': 9.71}, {'connected_gene': 'ABI3', 'score': 5.26}, {'connected_gene': 'GNGT2', 'score': 3.59}, {'connected_gene': 'ZNF652', 'score': 1.8}]
chr17 GH17I049735 49735428 49751006 1.98 [{'connected_gene': 'LUC7L3', 'score': 36.51}, {'connected_gene': 'ENSG00000262837', 'score': 32.97}, {'connected_gene': 'FAM117A', 'score': 23.72}, {'connected_gene': 'UBE2Z', 'score': 23.06}, {'connected_gene': 'FLJ45513', 'score': 21.21}, {'connected_gene': 'NXPH3', 'score': 20.22}, {'connected_gene': 'ZNF652', 'score': 15.18}, {'connected_gene': 'KAT7', 'score': 13.28}, {'connected_gene': 'ENSG00000230532', 'score': 12.43}, {'connected_gene': 'SLC35B1', 'score': 11.71}, {'connected_gene': 'LOC105371824', 'score': 11.68}, {'connected_gene': 'TAC4', 'score': 11.09}, {'connected_gene': 'COL1A1', 'score': 10.84}, {'connected_gene': 'CALCOCO2', 'score': 10.3}, {'connected_gene': 'LOC100288866', 'score': 10.19}, {'connected_gene': 'CACNA1G-AS1', 'score': 9.86}, {'connected_gene': 'XYLT2', 'score': 9.85}, {'connected_gene': 'SPOP', 'score': 6.07}, {'connected_gene': 'SAMD14', 'score': 4.98}, {'connected_gene': 'ENSG00000248954', 'score': 4.67}, {'connected_gene': 'PPP1R9B', 'score': 3.4}, {'connected_gene': 'DLX4', 'score': 3.0}, {'connected_gene': 'GC17P049768', 'score': 0.31}]
chr17 GH17I049387 49387342 49391888 1.63 [{'connected_gene': 'ZNF652', 'score': 21.0}, {'connected_gene': 'SPOP', 'score': 13.09}, {'connected_gene': 'LOC102724596', 'score': 12.23}, {'connected_gene': 'ENSG00000207127', 'score': 11.99}, {'connected_gene': 'PHB', 'score': 11.99}, {'connected_gene': 'ABI3', 'score': 10.89}, {'connected_gene': 'SNF8', 'score': 10.15}, {'connected_gene': 'PHOSPHO1', 'score': 10.12}, {'connected_gene': 'UBE2Z', 'score': 9.67}, {'connected_gene': 'GNGT2', 'score': 9.33}, {'connected_gene': 'KAT7', 'score': 5.66}, {'connected_gene': 'FAM117A', 'score': 3.84}, {'connected_gene': 'RPL21P124', 'score': 0.39}, {'connected_gene': 'ENSG00000250948', 'score': 0.39}, {'connected_gene': 'ENSG00000262039', 'score': 0.37}]
chr17 GH17I049356 49356591 49363275 2.24 [{'connected_gene': 'ZNF652', 'score': 558.13}, {'connected_gene': 'PIR41840', 'score': 550.77}, {'connected_gene': 'LOC102724596', 'score': 550.77}, {'connected_gene': 'ENSG00000262837', 'score': 15.84}, {'connected_gene': 'UBE2Z', 'score': 10.34}, {'connected_gene': 'KAT7', 'score': 9.85}, {'connected_gene': 'FLJ40194', 'score': 5.6}, {'connected_gene': 'GC17M049339', 'score': 0.34}]
chr17 GH17I049393 49393728 49394416 0.83 [{'connected_gene': 'ZNF652', 'score': 16.7}, {'connected_gene': 'LOC102724596', 'score': 12.21}, {'connected_gene': 'ENSG00000207127', 'score': 12.02}, {'connected_gene': 'PHB', 'score': 12.02}, {'connected_gene': 'ABI3', 'score': 9.2}, {'connected_gene': 'GNGT2', 'score': 9.2}, {'connected_gene': 'RPL21P124', 'score': 0.44}, {'connected_gene': 'ENSG00000250948', 'score': 0.37}, {'connected_gene': 'ENSG00000262039', 'score': 0.34}]
chr17 GH17I049396 49396069 49398372 0.2 [{'connected_gene': 'ZNF652', 'score': 16.88}, {'connected_gene': 'LOC102724596', 'score': 12.2}, {'connected_gene': 'ABI3', 'score': 9.22}, {'connected_gene': 'GNGT2', 'score': 9.22}, {'connected_gene': 'ENSG00000248172', 'score': 8.67}, {'connected_gene': 'DLX3', 'score': 8.67}, {'connected_gene': 'RPL21P124', 'score': 0.77}, {'connected_gene': 'ENSG00000250948', 'score': 0.34}, {'connected_gene': 'ENSG00000262039', 'score': 0.31}]
chr17 GH17I049394 49394801 49395400 1.22 [{'connected_gene': 'ZNF652', 'score': 16.7}, {'connected_gene': 'LOC102724596', 'score': 12.21}, {'connected_gene': 'ENSG00000207127', 'score': 12.02}, {'connected_gene': 'ABI3', 'score': 9.2}, {'connected_gene': 'GNGT2', 'score': 9.2}, {'connected_gene': 'RPL21P124', 'score': 0.44}, {'connected_gene': 'ENSG00000250948', 'score': 0.37}, {'connected_gene': 'ENSG00000262039', 'score': 0.34}]
chr17 GH17I049335 49334201 49334600 0.6 [{'connected_gene': 'ZNF652', 'score': 20.27}, {'connected_gene': 'LOC102724596', 'score': 13.45}, {'connected_gene': 'ENSG00000250186', 'score': 11.15}, {'connected_gene': 'RPL21P124', 'score': 11.15}, {'connected_gene': 'PHB', 'score': 11.13}, {'connected_gene': 'ABI3', 'score': 10.12}, {'connected_gene': 'GNGT2', 'score': 10.12}, {'connected_gene': 'GC17M049339', 'score': 0.44}, {'connected_gene': 'GC17M049326', 'score': 0.44}]
chr17 GH17I049340 49340527 49344053 1.22 [{'connected_gene': 'ZNF652', 'score': 20.77}, {'connected_gene': 'RPL21P124', 'score': 11.4}, {'connected_gene': 'ENSG00000250186', 'score': 11.39}, {'connected_gene': 'PHB', 'score': 11.38}, {'connected_gene': 'ABI3', 'score': 10.74}, {'connected_gene': 'GNGT2', 'score': 10.74}, {'connected_gene': 'FLJ40194', 'score': 5.63}, {'connected_gene': 'GC17M049339', 'score': 0.77}, {'connected_gene': 'PIR41840', 'score': 0.37}]
chr17 GH17I049315 49315119 49317825 1.26 [{'connected_gene': 'ZNF652', 'score': 7.44}, {'connected_gene': 'GC17M049326', 'score': 0.44}, {'connected_gene': 'GC17M049296', 'score': 0.31}, {'connected_gene': 'PIR39420', 'score': 0.31}]
chr17 GH17I049251 49251374 49253244 1.05 [{'connected_gene': 'PHOSPHO1', 'score': 12.39}, {'connected_gene': 'GNGT2', 'score': 11.01}, {'connected_gene': 'ABI3', 'score': 11.01}, {'connected_gene': 'ZNF652', 'score': 6.41}, {'connected_gene': 'FLJ40194', 'score': 0.77}, {'connected_gene': 'GC17P049267', 'score': 0.37}]
chr17 GH17I049235 49235269 49236000 0.75 [{'connected_gene': 'PHOSPHO1', 'score': 13.31}, {'connected_gene': 'ZNF652', 'score': 4.37}, {'connected_gene': 'SPOP', 'score': 3.93}, {'connected_gene': 'CALCOCO2', 'score': 2.69}, {'connected_gene': 'FLJ40194', 'score': 0.39}]
chr17 GH17I049259 49259542 49261436 1.35 [{'connected_gene': 'PHOSPHO1', 'score': 13.0}, {'connected_gene': 'ENSG00000250186', 'score': 10.89}, {'connected_gene': 'RPL21P124', 'score': 10.89}, {'connected_gene': 'PHB', 'score': 10.89}, {'connected_gene': 'ZNF652', 'score': 6.7}, {'connected_gene': 'UBE2Z', 'score': 5.64}, {'connected_gene': 'CALCOCO2', 'score': 4.14}, {'connected_gene': 'GC17P049267', 'score': 0.44}, {'connected_gene': 'FLJ40194', 'score': 0.39}]
chr17 GH17I050171 50171538 50213505 2.83 [{'connected_gene': 'COL1A1', 'score': 566.88}, {'connected_gene': 'SGCA', 'score': 58.54}, {'connected_gene': 'ENSG00000262837', 'score': 27.65}, {'connected_gene': 'LUC7L3', 'score': 23.95}, {'connected_gene': 'TMEM92-AS1', 'score': 17.13}, {'connected_gene': 'TMEM92', 'score': 13.28}, {'connected_gene': 'XYLT2', 'score': 13.27}, {'connected_gene': 'ZNF652', 'score': 12.76}, {'connected_gene': 'PPP1R9B', 'score': 12.76}, {'connected_gene': 'FLJ45513', 'score': 12.56}, {'connected_gene': 'ENSG00000253730', 'score': 12.08}, {'connected_gene': 'LOC105371824', 'score': 11.77}, {'connected_gene': 'MYCBPAP', 'score': 11.21}, {'connected_gene': 'EIF4EP2', 'score': 11.04}, {'connected_gene': 'SAMD14', 'score': 11.0}, {'connected_gene': 'ENSG00000250282', 'score': 10.96}, {'connected_gene': 'PDK2', 'score': 10.95}, {'connected_gene': 'FAM117A', 'score': 10.67}, {'connected_gene': 'ACSF2', 'score': 9.86}, {'connected_gene': 'CHAD', 'score': 9.85}, {'connected_gene': 'HILS1', 'score': 6.09}, {'connected_gene': 'LRRC59', 'score': 3.17}, {'connected_gene': 'ENSG00000249406', 'score': 0.37}, {'connected_gene': 'LOC105371820', 'score': 0.34}]
chr17 GH17I049687 49687048 49689514 1.49 [{'connected_gene': 'NXPH3', 'score': 11.61}, {'connected_gene': 'LOC100288866', 'score': 11.61}, {'connected_gene': 'SLC35B1', 'score': 11.42}, {'connected_gene': 'PHB', 'score': 10.76}, {'connected_gene': 'RPL21P124', 'score': 10.24}, {'connected_gene': 'ENSG00000250186', 'score': 10.24}, {'connected_gene': 'FAM117A', 'score': 5.97}, {'connected_gene': 'SPOP', 'score': 5.55}, {'connected_gene': 'PHOSPHO1', 'score': 5.18}, {'connected_gene': 'SAMD14', 'score': 4.97}, {'connected_gene': 'KAT7', 'score': 2.33}, {'connected_gene': 'ZNF652', 'score': 1.61}, {'connected_gene': 'GNGT2', 'score': 1.33}, {'connected_gene': 'PPP1R9B', 'score': 1.21}, {'connected_gene': 'ABI3', 'score': 1.14}, {'connected_gene': 'GC17P049692', 'score': 0.77}]
chr17 GH17I049395 49395736 49396050 0.31 [{'connected_gene': 'LOC102724596', 'score': 12.21}, {'connected_gene': 'ZNF652', 'score': 12.21}, {'connected_gene': 'ENSG00000207127', 'score': 12.02}, {'connected_gene': 'ABI3', 'score': 9.2}, {'connected_gene': 'GNGT2', 'score': 9.2}, {'connected_gene': 'RPL21P124', 'score': 0.77}, {'connected_gene': 'ENSG00000250948', 'score': 0.34}, {'connected_gene': 'ENSG00000262039', 'score': 0.31}]
chr17 GH17I049334 49334839 49334948 0.38 [{'connected_gene': 'LOC102724596', 'score': 13.45}, {'connected_gene': 'ZNF652', 'score': 13.45}, {'connected_gene': 'ENSG00000250186', 'score': 11.15}, {'connected_gene': 'RPL21P124', 'score': 11.15}, {'connected_gene': 'PHB', 'score': 11.13}, {'connected_gene': 'ABI3', 'score': 10.12}, {'connected_gene': 'GNGT2', 'score': 10.12}, {'connected_gene': 'FLJ40194', 'score': 5.6}, {'connected_gene': 'GC17M049339', 'score': 0.77}, {'connected_gene': 'GC17M049326', 'score': 0.44}]
chr17 GH17I049352 49352130 49354381 0.52 [{'connected_gene': 'RPL21P124', 'score': 11.7}, {'connected_gene': 'ENSG00000250186', 'score': 11.69}, {'connected_gene': 'PHB', 'score': 11.67}, {'connected_gene': 'ENSG00000207127', 'score': 11.11}, {'connected_gene': 'ABI3', 'score': 10.2}, {'connected_gene': 'GNGT2', 'score': 10.2}, {'connected_gene': 'ZNF652', 'score': 6.63}, {'connected_gene': 'FLJ40194', 'score': 5.61}, {'connected_gene': 'PIR41840', 'score': 0.44}, {'connected_gene': 'GC17M049339', 'score': 0.39}]
chr17 GH17I049347 49347703 49347765 0.26 [{'connected_gene': 'RPL21P124', 'score': 11.27}, {'connected_gene': 'ENSG00000250186', 'score': 11.26}, {'connected_gene': 'PHB', 'score': 11.24}, {'connected_gene': 'ZNF652', 'score': 10.2}, {'connected_gene': 'KAT7', 'score': 1.65}, {'connected_gene': 'GC17M049339', 'score': 0.44}, {'connected_gene': 'PIR41840', 'score': 0.39}]
chr17 GH17I049297 49297660 49297899 0.4 [{'connected_gene': 'RPL21P124', 'score': 10.81}, {'connected_gene': 'ENSG00000250186', 'score': 10.81}, {'connected_gene': 'PHB', 'score': 10.79}, {'connected_gene': 'GC17M049296', 'score': 0.44}, {'connected_gene': 'PIR39420', 'score': 0.44}, {'connected_gene': 'GC17M049326', 'score': 0.31}, {'connected_gene': 'ZNF652', 'score': 0.21}]
chr17 GH17I049557 49557539 49557800 1 [{'connected_gene': 'ENSG00000262837', 'score': 14.76}, {'connected_gene': 'ZNF652', 'score': 12.82}, {'connected_gene': 'UBE2Z', 'score': 11.4}, {'connected_gene': 'COL1A1', 'score': 10.12}, {'connected_gene': 'FAM117A', 'score': 9.86}, {'connected_gene': 'TAC4', 'score': 9.8}, {'connected_gene': 'LOC100288866', 'score': 0.37}, {'connected_gene': 'ENSG00000250310', 'score': 0.34}, {'connected_gene': 'MIR6165', 'score': 0.25}]
chr17 GH17I049405 49405823 49406041 0.4 [{'connected_gene': 'ENSG00000250186', 'score': 550.77}, {'connected_gene': 'ZNF652', 'score': 4.78}, {'connected_gene': 'PHB', 'score': 0.44}, {'connected_gene': 'ENSG00000262039', 'score': 0.28}]
chr17 GH17I049341 49339472 49339531 0.93 [{'connected_gene': 'GC17M049339', 'score': 550.77}, {'connected_gene': 'ZNF652', 'score': 550.34}, {'connected_gene': 'ENSG00000250186', 'score': 11.06}, {'connected_gene': 'RPL21P124', 'score': 11.06}, {'connected_gene': 'PHB', 'score': 11.03}, {'connected_gene': 'GC17M049326', 'score': 0.39}]
chr17 GH17I049328 49328400 49328800 1.13 [{'connected_gene': 'GC17M049326', 'score': 0.77}, {'connected_gene': 'GC17M049339', 'score': 0.39}, {'connected_gene': 'ZNF652', 'score': 0.29}]
chr17 GH17I049365 49365344 49366026 0.6 [{'connected_gene': 'GC17P049366', 'score': 550.77}, {'connected_gene': 'LOC102724596', 'score': 0.77}, {'connected_gene': 'ZNF652', 'score': 0.77}]
chr17 GH17I049370 49370942 49372246 0.74 [{'connected_gene': 'ENSG00000262039', 'score': 550.77}, {'connected_gene': 'RPL21P124', 'score': 11.23}, {'connected_gene': 'ENSG00000250186', 'score': 11.22}, {'connected_gene': 'PHB', 'score': 11.18}, {'connected_gene': 'ZNF652', 'score': 8.34}, {'connected_gene': 'ENSG00000250948', 'score': 0.77}, {'connected_gene': 'LOC102724596', 'score': 0.39}]
chr17 GH17I049339 49339601 49339800 0.63 [{'connected_gene': 'GC17M049339', 'score': 550.77}, {'connected_gene': 'ENSG00000250186', 'score': 11.06}, {'connected_gene': 'RPL21P124', 'score': 11.06}, {'connected_gene': 'PHB', 'score': 11.03}, {'connected_gene': 'GC17M049326', 'score': 0.39}, {'connected_gene': 'ZNF652', 'score': 0.34}]
chr17 GH17I049338 49338640 49339281 0.66 [{'connected_gene': 'GC17M049339', 'score': 550.77}, {'connected_gene': 'RPL21P124', 'score': 11.06}, {'connected_gene': 'ENSG00000250186', 'score': 11.05}, {'connected_gene': 'PHB', 'score': 11.03}, {'connected_gene': 'ZNF652', 'score': 7.49}, {'connected_gene': 'GC17M049326', 'score': 0.39}]
chr17 GH17I049349 49349699 49349848 0.46 [{'connected_gene': 'ENSG00000250186', 'score': 11.27}, {'connected_gene': 'RPL21P124', 'score': 11.27}, {'connected_gene': 'PHB', 'score': 11.24}, {'connected_gene': 'GC17M049339', 'score': 0.44}, {'connected_gene': 'PIR41840', 'score': 0.39}, {'connected_gene': 'ZNF652', 'score': 0.39}]

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