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
ENST00000301732 [[2325881, 2326806], [2327597, 2327671], [2327879, 2328070], [2328288, 2328459], [2328943, 2329131], [2331027, 2331222], [2331381, 2331510], [2333186, 2333359], [2334279, 2334438], [2334779, 2334999], [2335442, 2335647], [2336694, 2336968], [2338026, 2338330], [2339434, 2339621], [2342140, 2342239], [2345590, 2345741], [2347329, 2347540], [2347766, 2347922], [2348386, 2348541], [2349403, 2349533], [2350005, 2350149], [2353969, 2354151], [2358450, 2358624], [2367283, 2367404], [2367648, 2367765], [2369581, 2369841], [2373523, 2373689], [2374404, 2374532], [2376010, 2376275], [2376413, 2376493], [2378453, 2378758], [2379648, 2379855], [2390573, 2390736]] [[2326674, 2326806], [2327597, 2327671], [2327879, 2328070], [2328288, 2328459], [2328943, 2329131], [2331027, 2331222], [2331381, 2331510], [2333186, 2333359], [2334279, 2334438], [2334779, 2334999], [2335442, 2335647], [2336694, 2336968], [2338026, 2338330], [2339434, 2339621], [2342140, 2342239], [2345590, 2345741], [2347329, 2347540], [2347766, 2347922], [2348386, 2348541], [2349403, 2349533], [2350005, 2350149], [2353969, 2354151], [2358450, 2358624], [2367283, 2367404], [2367648, 2367765], [2369581, 2369841], [2373523, 2373689], [2374404, 2374532], [2376010, 2376275], [2376413, 2376467]]
ENST00000382381 [[2325881, 2326806], [2327597, 2327671], [2327879, 2328070], [2328288, 2328459], [2328943, 2329131], [2331027, 2331222], [2331381, 2331510], [2333186, 2333359], [2334279, 2334438], [2334779, 2334999], [2335442, 2335647], [2336694, 2336968], [2338026, 2338330], [2339434, 2339621], [2342140, 2342239], [2345590, 2345741], [2347329, 2347540], [2347766, 2347922], [2348386, 2348541], [2349403, 2349533], [2350005, 2350149], [2353969, 2354151], [2367283, 2367404], [2367648, 2367765], [2369581, 2369841], [2373523, 2373689], [2374404, 2374532], [2376010, 2376275], [2376413, 2376493], [2378453, 2378758], [2379648, 2379855], [2390573, 2390747]] [[2326674, 2326806], [2327597, 2327671], [2327879, 2328070], [2328288, 2328459], [2328943, 2329131], [2331027, 2331222], [2331381, 2331510], [2333186, 2333359], [2334279, 2334438], [2334779, 2334999], [2335442, 2335647], [2336694, 2336968], [2338026, 2338330], [2339434, 2339621], [2342140, 2342239], [2345590, 2345741], [2347329, 2347540], [2347766, 2347922], [2348386, 2348541], [2349403, 2349533], [2350005, 2350149], [2353969, 2354151], [2367283, 2367404], [2367648, 2367765], [2369581, 2369841], [2373523, 2373689], [2374404, 2374532], [2376010, 2376275], [2376413, 2376467]]
ENST00000563623 [[2339048, 2339621], [2342140, 2342239], [2345590, 2345741], [2347329, 2347540], [2347766, 2347922], [2348386, 2348541], [2349403, 2349533], [2350005, 2350149], [2353969, 2354151], [2358450, 2358624], [2367283, 2367404], [2367648, 2367765], [2369581, 2369841], [2373523, 2373689], [2374404, 2374532], [2376010, 2376275], [2376413, 2376493], [2378453, 2378758], [2379648, 2379855], [2390573, 2390598]] None
ENST00000566200 [[2328295, 2328459], [2328943, 2329131], [2331027, 2331222], [2331381, 2331510], [2333186, 2333742]] None
ENST00000569062 [[2331393, 2331506], [2333186, 2333973]] None
ENST00000567910 [[2373339, 2373689], [2374404, 2374532], [2376010, 2376275], [2376413, 2376493], [2378453, 2378758], [2379648, 2379725]] [[2373506, 2373689], [2374404, 2374532], [2376010, 2376275], [2376413, 2376467]]
NM_001089 [[2325878, 2326806], [2327597, 2327671], [2327879, 2328070], [2328288, 2328459], [2328943, 2329131], [2331027, 2331222], [2331381, 2331510], [2333186, 2333359], [2334279, 2334438], [2334779, 2334999], [2335442, 2335647], [2336694, 2336968], [2338026, 2338330], [2339434, 2339621], [2342140, 2342239], [2345590, 2345741], [2347329, 2347540], [2347766, 2347922], [2348386, 2348541], [2349403, 2349533], [2350005, 2350149], [2353969, 2354151], [2358450, 2358624], [2367283, 2367404], [2367648, 2367765], [2369581, 2369841], [2373523, 2373689], [2374404, 2374532], [2376010, 2376275], [2376413, 2376493], [2378453, 2378758], [2379648, 2379855], [2390573, 2390747]] [[2326674, 2326806], [2327597, 2327671], [2327879, 2328070], [2328288, 2328459], [2328943, 2329131], [2331027, 2331222], [2331381, 2331510], [2333186, 2333359], [2334279, 2334438], [2334779, 2334999], [2335442, 2335647], [2336694, 2336968], [2338026, 2338330], [2339434, 2339621], [2342140, 2342239], [2345590, 2345741], [2347329, 2347540], [2347766, 2347922], [2348386, 2348541], [2349403, 2349533], [2350005, 2350149], [2353969, 2354151], [2358450, 2358624], [2367283, 2367404], [2367648, 2367765], [2369581, 2369841], [2373523, 2373689], [2374404, 2374532], [2376010, 2376275], [2376413, 2376467]]
Promoter
Chrom Start End Description
chr16 2379688 2379711 CAGE_peak_3_at_ABCA3_5end
chr16 2390672 2390686 CAGE_peak_4_at_ABCA3_5end
chr16 2390692 2390703 CAGE_peak_5_at_ABCA3_5end
chr16 2390704 2390762 CAGE_peak_1_at_ABCA3_5end
chr16 2390769 2390789 CAGE_peak_2_at_ABCA3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I001928 1928801 1930646 1.62 [{'connected_gene': 'IFT140', 'score': 20.55}, {'connected_gene': 'CCDC154', 'score': 16.6}, {'connected_gene': 'TSC2', 'score': 16.29}, {'connected_gene': 'ERVK13-1', 'score': 15.14}, {'connected_gene': 'FAHD1', 'score': 14.47}, {'connected_gene': 'EME2', 'score': 13.73}, {'connected_gene': 'NME3', 'score': 13.7}, {'connected_gene': 'CRAMP1', 'score': 13.6}, {'connected_gene': 'ENSG00000260447', 'score': 13.47}, {'connected_gene': 'TELO2', 'score': 12.53}, {'connected_gene': 'SNHG19', 'score': 12.22}, {'connected_gene': 'E4F1', 'score': 12.18}, {'connected_gene': 'HAGH', 'score': 10.57}, {'connected_gene': 'UBE2I', 'score': 10.03}, {'connected_gene': 'NUBP2', 'score': 9.82}, {'connected_gene': 'UNKL', 'score': 9.8}, {'connected_gene': 'MEIOB', 'score': 5.45}, {'connected_gene': 'RNF151', 'score': 5.34}, {'connected_gene': 'BRICD5', 'score': 3.43}, {'connected_gene': 'DNASE1L2', 'score': 1.61}, {'connected_gene': 'TBL3', 'score': 1.51}, {'connected_gene': 'MLST8', 'score': 1.47}, {'connected_gene': 'ABCA3', 'score': 1.19}, {'connected_gene': 'GC16M001938', 'score': 0.44}, {'connected_gene': 'HS3ST6', 'score': 0.44}]
chr16 GH16I002696 2696220 2696878 0.2 [{'connected_gene': 'PRSS27', 'score': 12.61}, {'connected_gene': 'SRRM2-AS1', 'score': 11.56}, {'connected_gene': 'KCTD5', 'score': 10.06}, {'connected_gene': 'KREMEN2', 'score': 10.01}, {'connected_gene': 'PAQR4', 'score': 10.01}, {'connected_gene': 'ABCA17P', 'score': 9.25}, {'connected_gene': 'ABCA3', 'score': 9.25}, {'connected_gene': 'ENSG00000269937', 'score': 6.78}, {'connected_gene': 'GC16P002972', 'score': 0.77}, {'connected_gene': 'GC16P002983', 'score': 0.77}, {'connected_gene': 'PIR57562', 'score': 0.77}, {'connected_gene': 'GC16P003025', 'score': 0.39}]
chr16 GH16I002460 2459020 2459169 0.64 [{'connected_gene': 'TEDC2', 'score': 550.77}, {'connected_gene': 'PIR54822', 'score': 550.77}, {'connected_gene': 'LOC105371050', 'score': 550.77}, {'connected_gene': 'CCNF', 'score': 12.99}, {'connected_gene': 'ABCA17P', 'score': 11.47}, {'connected_gene': 'ABCA3', 'score': 11.47}]
chr16 GH16I002459 2459386 2460921 1.98 [{'connected_gene': 'TEDC2', 'score': 550.77}, {'connected_gene': 'LOC105371050', 'score': 550.77}, {'connected_gene': 'SRRM2', 'score': 32.54}, {'connected_gene': 'ZNF263', 'score': 30.53}, {'connected_gene': 'ENSG00000255513', 'score': 29.49}, {'connected_gene': 'SNORA64', 'score': 28.63}, {'connected_gene': 'LOC105371055', 'score': 27.67}, {'connected_gene': 'TELO2', 'score': 26.93}, {'connected_gene': 'ENSG00000260954', 'score': 25.08}, {'connected_gene': 'THOC6', 'score': 22.31}, {'connected_gene': 'E4F1', 'score': 21.36}, {'connected_gene': 'CRAMP1', 'score': 21.1}, {'connected_gene': 'ZNF598', 'score': 20.07}, {'connected_gene': 'SPSB3', 'score': 13.79}, {'connected_gene': 'CCNF', 'score': 12.97}, {'connected_gene': 'SNORD60', 'score': 12.79}, {'connected_gene': 'TRAF7', 'score': 12.6}, {'connected_gene': 'ERVK13-1', 'score': 12.25}, {'connected_gene': 'NUBP2', 'score': 12.09}, {'connected_gene': 'ABCA3', 'score': 11.47}, {'connected_gene': 'ABCA17P', 'score': 11.47}, {'connected_gene': 'ZNF597', 'score': 10.73}, {'connected_gene': 'TSC2', 'score': 10.73}, {'connected_gene': 'LOC652276', 'score': 10.21}, {'connected_gene': 'GC16M002463', 'score': 0.77}]
chr16 GH16I002339 2339164 2341373 2.11 [{'connected_gene': 'ABCA17P', 'score': 564.83}, {'connected_gene': 'ABCA3', 'score': 550.77}, {'connected_gene': 'PIR33563', 'score': 550.77}, {'connected_gene': 'IFT140', 'score': 20.52}, {'connected_gene': 'ZNF213-AS1', 'score': 19.37}, {'connected_gene': 'ZNF75A', 'score': 18.7}, {'connected_gene': 'TSC2', 'score': 15.62}, {'connected_gene': 'ERVK13-1', 'score': 15.18}, {'connected_gene': 'ENSG00000261123', 'score': 15.07}, {'connected_gene': 'ENSG00000260646', 'score': 14.06}, {'connected_gene': 'CRAMP1', 'score': 13.57}, {'connected_gene': 'ENSG00000260447', 'score': 13.46}, {'connected_gene': 'NME3', 'score': 13.09}, {'connected_gene': 'LOC105371049', 'score': 12.95}, {'connected_gene': 'CCDC154', 'score': 12.76}, {'connected_gene': 'TIGD7', 'score': 12.62}, {'connected_gene': 'TELO2', 'score': 12.51}, {'connected_gene': 'ZNF205', 'score': 12.43}, {'connected_gene': 'E4F1', 'score': 12.25}, {'connected_gene': 'SNHG19', 'score': 12.23}, {'connected_gene': 'ZNF263', 'score': 11.95}, {'connected_gene': 'EME2', 'score': 10.56}, {'connected_gene': 'NUBP2', 'score': 10.04}, {'connected_gene': 'UNKL', 'score': 9.8}]
chr16 GH16I002386 2386937 2387418 0.43 [{'connected_gene': 'ABCA17P', 'score': 12.2}, {'connected_gene': 'ABCA3', 'score': 12.2}, {'connected_gene': 'CCNF', 'score': 12.03}, {'connected_gene': 'TBC1D24', 'score': 7.88}, {'connected_gene': 'ERVK13-1', 'score': 5.34}, {'connected_gene': 'GC16P002400', 'score': 0.39}, {'connected_gene': 'GC16M002369', 'score': 0.37}]
chr16 GH16I002388 2388980 2389129 0.8 [{'connected_gene': 'ABCA17P', 'score': 12.2}, {'connected_gene': 'ABCA3', 'score': 12.2}, {'connected_gene': 'CCNF', 'score': 12.03}, {'connected_gene': 'ERVK13-1', 'score': 5.84}, {'connected_gene': 'GC16P002400', 'score': 0.39}, {'connected_gene': 'GC16M002369', 'score': 0.37}]
chr16 GH16I002372 2372344 2373909 0.43 [{'connected_gene': 'ABCA17P', 'score': 19.74}, {'connected_gene': 'ABCA3', 'score': 12.27}, {'connected_gene': 'CCNF', 'score': 11.67}, {'connected_gene': 'GC16M002369', 'score': 0.77}, {'connected_gene': 'GC16P002400', 'score': 0.31}]
chr16 GH16I002423 2423200 2423369 0.74 [{'connected_gene': 'ABCA17P', 'score': 12.0}, {'connected_gene': 'ABCA3', 'score': 12.0}, {'connected_gene': 'NTN3', 'score': 11.99}, {'connected_gene': 'TBC1D24', 'score': 10.97}, {'connected_gene': 'GC16P002427', 'score': 0.77}, {'connected_gene': 'GC16P002400', 'score': 0.34}]
chr16 GH16I002506 2506583 2511005 1.41 [{'connected_gene': 'TBC1D24', 'score': 20.99}, {'connected_gene': 'PDPK1', 'score': 14.63}, {'connected_gene': 'CEMP1', 'score': 14.4}, {'connected_gene': 'ABCA17P', 'score': 11.63}, {'connected_gene': 'ABCA3', 'score': 11.63}, {'connected_gene': 'CCNF', 'score': 11.61}, {'connected_gene': 'SRRM2', 'score': 1.64}, {'connected_gene': 'ATP6V0C', 'score': 0.77}, {'connected_gene': 'ENSG00000260272', 'score': 0.39}, {'connected_gene': 'GC16M002495', 'score': 0.39}]
chr16 GH16I002439 2439996 2440806 0.46 [{'connected_gene': 'NTN3', 'score': 12.32}, {'connected_gene': 'TBC1D24', 'score': 12.32}, {'connected_gene': 'ABCA3', 'score': 11.62}, {'connected_gene': 'ABCA17P', 'score': 11.62}, {'connected_gene': 'RNPS1', 'score': 11.42}, {'connected_gene': 'ECI1', 'score': 11.41}, {'connected_gene': 'MIR940', 'score': 10.91}, {'connected_gene': 'PKD1', 'score': 9.85}, {'connected_gene': 'GC16P002435', 'score': 0.77}, {'connected_gene': 'MIR6767', 'score': 0.77}, {'connected_gene': 'CCNF', 'score': 0.39}]
chr16 GH16I002332 2332611 2332670 0.5 [{'connected_gene': 'RPS16P7', 'score': 550.77}, {'connected_gene': 'ABCA3', 'score': 550.44}, {'connected_gene': 'PIR38241', 'score': 0.25}]
chr16 GH16I002296 2296260 2297411 0.95 [{'connected_gene': 'RNPS1', 'score': 12.53}, {'connected_gene': 'ABCA17P', 'score': 11.77}, {'connected_gene': 'ABCA3', 'score': 11.77}, {'connected_gene': 'PIR38241', 'score': 0.39}, {'connected_gene': 'RPS16P7', 'score': 0.28}]
chr16 GH16I002672 2672400 2675190 1.64 [{'connected_gene': 'ERVK13-1', 'score': 568.82}, {'connected_gene': 'ENSG00000261613', 'score': 51.29}, {'connected_gene': 'ENSG00000269937', 'score': 12.53}, {'connected_gene': 'PRSS27', 'score': 12.03}, {'connected_gene': 'SRRM2-AS1', 'score': 10.91}, {'connected_gene': 'ABCA17P', 'score': 9.5}, {'connected_gene': 'ABCA3', 'score': 9.5}, {'connected_gene': 'GC16P003029', 'score': 0.77}, {'connected_gene': 'PIR59611', 'score': 0.77}]
chr16 GH16I002364 2364053 2367294 0.78 [{'connected_gene': 'GC16M002363', 'score': 550.77}, {'connected_gene': 'ABCA17P', 'score': 25.37}, {'connected_gene': 'ABCA3', 'score': 12.47}, {'connected_gene': 'CCNF', 'score': 11.78}, {'connected_gene': 'NTN3', 'score': 11.54}, {'connected_gene': 'TBC1D24', 'score': 11.54}, {'connected_gene': 'SRRM2-AS1', 'score': 9.02}, {'connected_gene': 'GC16M002369', 'score': 0.77}]
chr16 GH16I002689 2689889 2693843 0.99 [{'connected_gene': 'GC16M002686', 'score': 550.77}, {'connected_gene': 'KCTD5', 'score': 20.14}, {'connected_gene': 'PRSS27', 'score': 13.21}, {'connected_gene': 'SRRM2-AS1', 'score': 11.57}, {'connected_gene': 'SRRM2', 'score': 11.53}, {'connected_gene': 'PAQR4', 'score': 10.04}, {'connected_gene': 'KREMEN2', 'score': 10.04}, {'connected_gene': 'ABCA17P', 'score': 9.3}, {'connected_gene': 'ABCA3', 'score': 9.3}, {'connected_gene': 'ENSG00000269937', 'score': 8.77}, {'connected_gene': 'GC16P002972', 'score': 0.77}, {'connected_gene': 'GC16P002983', 'score': 0.77}, {'connected_gene': 'PIR57562', 'score': 0.77}]
chr16 GH16I002669 2669944 2670473 1.11 [{'connected_gene': 'GC16P003029', 'score': 550.77}, {'connected_gene': 'ERVK13-1', 'score': 17.76}, {'connected_gene': 'PRSS27', 'score': 12.01}, {'connected_gene': 'TBC1D24', 'score': 11.59}, {'connected_gene': 'SRRM2-AS1', 'score': 10.9}, {'connected_gene': 'ABCA17P', 'score': 9.5}, {'connected_gene': 'ABCA3', 'score': 9.5}]
chr16 GH16I002670 2670835 2671547 0.49 [{'connected_gene': 'GC16P003029', 'score': 550.77}, {'connected_gene': 'ERVK13-1', 'score': 17.77}, {'connected_gene': 'PRSS27', 'score': 12.03}, {'connected_gene': 'SRRM2-AS1', 'score': 10.9}, {'connected_gene': 'ABCA17P', 'score': 9.5}, {'connected_gene': 'ABCA3', 'score': 9.5}, {'connected_gene': 'ENSG00000261613', 'score': 6.41}]

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