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
ENST00000426449 [[2487077, 2487106], [2488023, 2488172], [2489164, 2489273], [2489781, 2489907], [2491261, 2491417], [2492062, 2492153]] [[2488103, 2488172], [2489164, 2489273], [2489781, 2489907], [2491261, 2491417], [2492062, 2492153]]
ENST00000434817 [[2487229, 2487289], [2488023, 2488172], [2489164, 2489273], [2489781, 2489907], [2491261, 2491417], [2492062, 2492153], [2493111, 2493254]] [[2488103, 2488172], [2489164, 2489273], [2489781, 2489907], [2491261, 2491417], [2492062, 2492153], [2493111, 2493254]]
ENST00000435221 [[2487240, 2487691], [2488023, 2488172], [2489164, 2489273], [2489781, 2489907], [2491261, 2491417], [2492062, 2492153], [2493111, 2493254]] [[2488103, 2488172], [2489164, 2489273], [2489781, 2489907], [2491261, 2491417], [2492062, 2492153], [2493111, 2493254]]
ENST00000451778 [[2487418, 2487471], [2488023, 2488172], [2489164, 2489273], [2489781, 2489907], [2491261, 2491417], [2492062, 2492153], [2493111, 2493254]] [[2488103, 2488172], [2489164, 2489273], [2489781, 2489907], [2491261, 2491417], [2492062, 2492153], [2493111, 2493254]]
ENST00000409119 [[2487660, 2487700], [2488023, 2488172], [2489164, 2489273], [2489781, 2489907], [2491261, 2491417], [2492062, 2492153], [2492932, 2493157]] [[2488103, 2488172], [2489164, 2489273], [2489781, 2489907], [2491261, 2491417], [2492062, 2492153], [2492932, 2492963]]
ENST00000355716 [[2487804, 2488172], [2489164, 2489273], [2489781, 2489907], [2491261, 2491417], [2492062, 2492153], [2493111, 2493254], [2494303, 2494335], [2494586, 2495268]] [[2488103, 2488172], [2489164, 2489273], [2489781, 2489907], [2491261, 2491417], [2492062, 2492153], [2493111, 2493254], [2494303, 2494335], [2494586, 2494712]]
ENST00000475523 [[2487824, 2487894], [2490790, 2491417], [2492062, 2492153], [2493111, 2493254], [2494303, 2494335], [2494586, 2495268]] None
ENST00000442392 [[2487843, 2488172], [2489164, 2489273], [2489781, 2489907], [2490319, 2490595]] None
ENST00000496064 [[2487995, 2488172], [2489164, 2489273], [2489781, 2489907], [2491261, 2491417], [2492062, 2492974]] None
ENST00000463471 [[2488009, 2488172], [2489164, 2489273], [2489781, 2491417], [2492062, 2492153], [2492932, 2495188]] None
ENST00000466750 [[2489251, 2489273], [2489781, 2491417], [2492062, 2492153], [2493111, 2493254], [2494303, 2494335], [2494586, 2495265]] None
ENST00000482074 [[2487844, 2488172], [2489164, 2489273], [2489781, 2490301]] None
ENST00000471768 [[2491018, 2491417], [2492062, 2492153], [2492932, 2492981]] None
ENST00000463835 [[2491992, 2492153], [2492932, 2493254], [2494303, 2494335], [2494586, 2494943]] None
ENST00000482602 [[2492120, 2492153], [2493215, 2493254], [2494303, 2494335], [2496491, 2496821]] None
ENST00000480305 [[2493239, 2493396], [2494303, 2494335], [2494586, 2494891]] None
NM_001297605 [[2487803, 2488172], [2489164, 2489273], [2489781, 2489907], [2491261, 2491417], [2492062, 2492153], [2494303, 2494335], [2494586, 2497061]] [[2488103, 2488172], [2489164, 2489273], [2489781, 2489907], [2491261, 2491417], [2492062, 2492153], [2494303, 2494307]]
NM_003820 [[2487803, 2488172], [2489164, 2489273], [2489781, 2489907], [2491261, 2491417], [2492062, 2492153], [2493111, 2493254], [2494303, 2494335], [2494586, 2497061]] [[2488103, 2488172], [2489164, 2489273], [2489781, 2489907], [2491261, 2491417], [2492062, 2492153], [2493111, 2493254], [2494303, 2494335], [2494586, 2494712]]
Promoter
Chrom Start End Description
chr1 2487227 2487248 CAGE_peak_4_at_TNFRSF14_5end
chr1 2487249 2487287 CAGE_peak_3_at_TNFRSF14_5end
chr1 2487288 2487295 CAGE_peak_12_at_TNFRSF14_5end
chr1 2487325 2487330 CAGE_peak_15_at_TNFRSF14_5end
chr1 2487402 2487416 CAGE_peak_5_at_TNFRSF14_5end
chr1 2487548 2487559 CAGE_peak_11_at_TNFRSF14_5end
chr1 2487562 2487573 CAGE_peak_8_at_TNFRSF14_5end
chr1 2487588 2487599 CAGE_peak_9_at_TNFRSF14_5end
chr1 2487631 2487646 CAGE_peak_7_at_TNFRSF14_5end
chr1 2487800 2487845 CAGE_peak_2_at_TNFRSF14_5end
chr1 2487854 2487876 CAGE_peak_6_at_TNFRSF14_5end
chr1 2487932 2487943 CAGE_peak_10_at_TNFRSF14_5end
chr1 2487990 2488033 CAGE_peak_1_at_TNFRSF14_5end
chr1 2488970 2488979 CAGE_peak_21_at_TNFRSF14_5end
chr1 2488990 2488993 CAGE_peak_29_at_TNFRSF14_5end
chr1 2489000 2489018 CAGE_peak_13_at_TNFRSF14_5end
chr1 2489027 2489046 CAGE_peak_17_at_TNFRSF14_5end
chr1 2489047 2489054 CAGE_peak_24_at_TNFRSF14_5end
chr1 2489069 2489079 CAGE_peak_20_at_TNFRSF14_5end
chr1 2489184 2489208 CAGE_peak_14_at_TNFRSF14_5end
chr1 2491291 2491303 CAGE_peak_18_at_TNFRSF14_5end
chr1 2491322 2491336 CAGE_peak_16_at_TNFRSF14_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I002253 2253192 2259591 1.63 [{'connected_gene': 'ATAD3B', 'score': 25.92}, {'connected_gene': 'CCNL2', 'score': 25.18}, {'connected_gene': 'ENSG00000240731', 'score': 22.85}, {'connected_gene': 'INTS11', 'score': 22.19}, {'connected_gene': 'CDK11A', 'score': 18.33}, {'connected_gene': 'UBE2J2', 'score': 17.32}, {'connected_gene': 'RER1', 'score': 14.04}, {'connected_gene': 'CDK11B', 'score': 12.9}, {'connected_gene': 'SLC35E2', 'score': 11.66}, {'connected_gene': 'LOC100288379', 'score': 11.6}, {'connected_gene': 'LINC01786', 'score': 11.44}, {'connected_gene': 'PUSL1', 'score': 11.29}, {'connected_gene': 'FAAP20', 'score': 11.14}, {'connected_gene': 'ENSG00000271806', 'score': 10.45}, {'connected_gene': 'LOC100129381', 'score': 10.42}, {'connected_gene': 'MORN1', 'score': 10.28}, {'connected_gene': 'VWA1', 'score': 10.24}, {'connected_gene': 'LINC01770', 'score': 10.21}, {'connected_gene': 'ENSG00000272455', 'score': 9.78}, {'connected_gene': 'PRKCZ-AS1', 'score': 6.22}, {'connected_gene': 'SKI', 'score': 5.67}, {'connected_gene': 'ENSG00000234396', 'score': 5.02}, {'connected_gene': 'TNFRSF14', 'score': 2.62}, {'connected_gene': 'PIR45792', 'score': 0.34}]
chr1 GH01I002570 2570349 2570974 0.24 [{'connected_gene': 'MMEL1', 'score': 18.49}, {'connected_gene': 'TNFRSF14', 'score': 7.53}, {'connected_gene': 'SKI', 'score': 1.2}, {'connected_gene': 'LOC100996583', 'score': 0.77}, {'connected_gene': 'GC01M002564', 'score': 0.77}]
chr1 GH01I002559 2559584 2565797 0.98 [{'connected_gene': 'MMEL1', 'score': 18.53}, {'connected_gene': 'FAM213B', 'score': 9.3}, {'connected_gene': 'TNFRSF14-AS1', 'score': 5.61}, {'connected_gene': 'ENSG00000225931', 'score': 0.77}, {'connected_gene': 'GC01P002557', 'score': 0.77}, {'connected_gene': 'TNFRSF14', 'score': 0.44}, {'connected_gene': 'GC01M002564', 'score': 0.39}]
chr1 GH01I002239 2239686 2241010 1.38 [{'connected_gene': 'NADK', 'score': 17.2}, {'connected_gene': 'SKI', 'score': 4.07}, {'connected_gene': 'TNFRSF14', 'score': 3.91}, {'connected_gene': 'GNB1', 'score': 2.2}, {'connected_gene': 'PANK4', 'score': 2.0}, {'connected_gene': 'PIR45792', 'score': 0.28}]
chr1 GH01I002226 2226396 2236292 2.61 [{'connected_gene': 'SKI', 'score': 564.74}, {'connected_gene': 'SLC35E2', 'score': 20.75}, {'connected_gene': 'ENSG00000272455', 'score': 18.99}, {'connected_gene': 'LOC100129381', 'score': 18.57}, {'connected_gene': 'ENSG00000234396', 'score': 16.34}, {'connected_gene': 'MORN1', 'score': 15.0}, {'connected_gene': 'FAAP20', 'score': 14.23}, {'connected_gene': 'ATAD3B', 'score': 12.84}, {'connected_gene': 'INTS11', 'score': 11.91}, {'connected_gene': 'LOC100129534', 'score': 11.9}, {'connected_gene': 'LINC01786', 'score': 11.8}, {'connected_gene': 'ENSG00000240731', 'score': 11.1}, {'connected_gene': 'ENSG00000271806', 'score': 10.48}, {'connected_gene': 'MIB2', 'score': 10.3}, {'connected_gene': 'CCNL2', 'score': 10.03}, {'connected_gene': 'SLC35E2B', 'score': 9.91}, {'connected_gene': 'PRKCZ-AS1', 'score': 6.63}, {'connected_gene': 'ANKRD65', 'score': 5.12}, {'connected_gene': 'TNFRSF14', 'score': 3.31}, {'connected_gene': 'PIR45792', 'score': 0.25}]
chr1 GH01I003415 3415919 3420135 0.85 [{'connected_gene': 'C1orf174', 'score': 14.11}, {'connected_gene': 'WRAP73', 'score': 12.52}, {'connected_gene': 'TNFRSF14', 'score': 10.68}, {'connected_gene': 'ENSG00000272153', 'score': 10.12}, {'connected_gene': 'ENSG00000225931', 'score': 9.96}, {'connected_gene': 'ARHGEF16', 'score': 6.24}, {'connected_gene': 'GC01M003410', 'score': 0.77}, {'connected_gene': 'GC01P003264', 'score': 0.1}, {'connected_gene': 'PRDM16', 'score': 0.05}]
chr1 GH01I003087 3087782 3088392 0.54 [{'connected_gene': 'C1orf174', 'score': 18.19}, {'connected_gene': 'WRAP73', 'score': 17.26}, {'connected_gene': 'RER1', 'score': 14.15}, {'connected_gene': 'ENSG00000272153', 'score': 13.22}, {'connected_gene': 'FAAP20', 'score': 10.71}, {'connected_gene': 'ENSG00000225931', 'score': 10.45}, {'connected_gene': 'TNFRSF14', 'score': 10.29}, {'connected_gene': 'PIR58969', 'score': 0.44}, {'connected_gene': 'PRDM16', 'score': 0.37}, {'connected_gene': 'MIR4251', 'score': 0.28}]
chr1 GH01I002389 2389860 2396389 2.24 [{'connected_gene': 'RER1', 'score': 564.75}, {'connected_gene': 'MORN1', 'score': 550.77}, {'connected_gene': 'CDK11A', 'score': 20.14}, {'connected_gene': 'LOC100288379', 'score': 14.9}, {'connected_gene': 'ATAD3B', 'score': 12.8}, {'connected_gene': 'CCNL2', 'score': 12.57}, {'connected_gene': 'SLC35E2', 'score': 11.65}, {'connected_gene': 'CDK11B', 'score': 11.07}, {'connected_gene': 'TNFRSF14', 'score': 11.01}, {'connected_gene': 'LOC100129381', 'score': 10.42}, {'connected_gene': 'LOC100129534', 'score': 10.08}, {'connected_gene': 'FAAP20', 'score': 10.08}, {'connected_gene': 'ENSG00000225931', 'score': 9.95}, {'connected_gene': 'ENSG00000272455', 'score': 9.78}, {'connected_gene': 'PEX10', 'score': 9.56}, {'connected_gene': 'ENSG00000226286', 'score': 4.88}, {'connected_gene': 'GC01M002393', 'score': 0.44}]
chr1 GH01I003318 3318622 3324679 1.88 [{'connected_gene': 'LOC105378604', 'score': 550.77}, {'connected_gene': 'C1orf174', 'score': 39.02}, {'connected_gene': 'WRAP73', 'score': 36.07}, {'connected_gene': 'TP73-AS1', 'score': 24.33}, {'connected_gene': 'ENSG00000272153', 'score': 22.54}, {'connected_gene': 'RER1', 'score': 14.15}, {'connected_gene': 'CEP104', 'score': 10.76}, {'connected_gene': 'ENSG00000225931', 'score': 10.45}, {'connected_gene': 'TNFRSF14', 'score': 10.28}, {'connected_gene': 'MORN1', 'score': 10.01}, {'connected_gene': 'GC01P003290', 'score': 0.29}, {'connected_gene': 'GC01P003264', 'score': 0.22}, {'connected_gene': 'PRDM16', 'score': 0.07}]
chr1 GH01I002573 2573596 2573922 0.39 [{'connected_gene': 'GC01M002574', 'score': 550.77}, {'connected_gene': 'GC01M002564', 'score': 550.77}, {'connected_gene': 'TNFRSF14', 'score': 6.43}, {'connected_gene': 'SKI', 'score': 2.08}, {'connected_gene': 'LOC100996583', 'score': 0.44}]
chr1 GH01I002554 2554435 2559281 2.14 [{'connected_gene': 'GC01P002557', 'score': 550.77}, {'connected_gene': 'TNFRSF14', 'score': 550.77}, {'connected_gene': 'TNFRSF14-AS1', 'score': 550.77}, {'connected_gene': 'MMEL1', 'score': 18.19}, {'connected_gene': 'FAM213B', 'score': 6.25}]
chr1 GH01I002288 2288572 2293482 1.57 [{'connected_gene': 'GC01M002291', 'score': 550.77}, {'connected_gene': 'MORN1', 'score': 15.05}, {'connected_gene': 'FAAP20', 'score': 14.05}, {'connected_gene': 'ATAD3B', 'score': 12.84}, {'connected_gene': 'LOC100129534', 'score': 11.98}, {'connected_gene': 'ENSG00000234396', 'score': 11.92}, {'connected_gene': 'INTS11', 'score': 11.91}, {'connected_gene': 'ENSG00000240731', 'score': 11.1}, {'connected_gene': 'ENSG00000272455', 'score': 10.92}, {'connected_gene': 'SLC35E2', 'score': 10.84}, {'connected_gene': 'MIB2', 'score': 10.3}, {'connected_gene': 'CCNL2', 'score': 10.03}, {'connected_gene': 'SLC35E2B', 'score': 9.91}, {'connected_gene': 'LOC100129381', 'score': 9.85}, {'connected_gene': 'SKI', 'score': 6.44}, {'connected_gene': 'CDK11A', 'score': 5.27}, {'connected_gene': 'TNFRSF14', 'score': 3.18}, {'connected_gene': 'PIR62622', 'score': 0.77}]
chr1 GH01I002245 2245801 2252422 1.54 [{'connected_gene': 'ENSG00000234396', 'score': 16.37}, {'connected_gene': 'MORN1', 'score': 15.01}, {'connected_gene': 'FAAP20', 'score': 14.14}, {'connected_gene': 'ATAD3B', 'score': 12.84}, {'connected_gene': 'LOC100129534', 'score': 11.92}, {'connected_gene': 'INTS11', 'score': 11.91}, {'connected_gene': 'LINC01786', 'score': 11.8}, {'connected_gene': 'ENSG00000240731', 'score': 11.11}, {'connected_gene': 'ENSG00000272455', 'score': 10.92}, {'connected_gene': 'SLC35E2', 'score': 10.84}, {'connected_gene': 'MIB2', 'score': 10.3}, {'connected_gene': 'CCNL2', 'score': 10.03}, {'connected_gene': 'SLC35E2B', 'score': 9.91}, {'connected_gene': 'LOC100129381', 'score': 9.85}, {'connected_gene': 'NADK', 'score': 8.04}, {'connected_gene': 'TNFRSF14', 'score': 7.04}, {'connected_gene': 'PRKCZ-AS1', 'score': 6.46}, {'connected_gene': 'SKI', 'score': 5.52}, {'connected_gene': 'GNB1', 'score': 1.54}, {'connected_gene': 'PIR45792', 'score': 0.31}]
chr1 GH01I002574 2574363 2579599 1.74 [{'connected_gene': 'GC01M002574', 'score': 550.77}, {'connected_gene': 'GC01M002564', 'score': 550.77}, {'connected_gene': 'MMEL1', 'score': 27.71}, {'connected_gene': 'TNFRSF14', 'score': 13.99}, {'connected_gene': 'FAM213B', 'score': 9.45}, {'connected_gene': 'SKI', 'score': 7.15}, {'connected_gene': 'LOC100996583', 'score': 0.39}]
chr1 GH01I002150 2150201 2153326 1.23 [{'connected_gene': 'PIR38701', 'score': 550.77}, {'connected_gene': 'NADK', 'score': 30.32}, {'connected_gene': 'FAAP20', 'score': 11.25}, {'connected_gene': 'PRKCZ-AS1', 'score': 8.87}, {'connected_gene': 'ENSG00000271806', 'score': 7.72}, {'connected_gene': 'ENSG00000234396', 'score': 5.88}, {'connected_gene': 'LOC105378589', 'score': 4.56}, {'connected_gene': 'CDK11A', 'score': 4.42}, {'connected_gene': 'CDK11B', 'score': 4.41}, {'connected_gene': 'TNFRSF14', 'score': 3.11}, {'connected_gene': 'GNB1', 'score': 2.27}, {'connected_gene': 'SKI', 'score': 2.17}, {'connected_gene': 'PANK4', 'score': 1.84}, {'connected_gene': 'GC01M002157', 'score': 0.77}, {'connected_gene': 'PRKCZ', 'score': 0.15}]
chr1 GH01I002298 2298667 2302951 1.55 [{'connected_gene': 'GC01P002300', 'score': 550.77}, {'connected_gene': 'SKI', 'score': 21.58}, {'connected_gene': 'TNFRSF14', 'score': 5.73}, {'connected_gene': 'LOC100129534', 'score': 5.29}, {'connected_gene': 'ENSG00000272455', 'score': 4.64}, {'connected_gene': 'PIR31073', 'score': 0.44}]
chr1 GH01I002543 2543335 2550837 2.12 [{'connected_gene': 'GC01M002542', 'score': 550.77}, {'connected_gene': 'ENSG00000272449', 'score': 550.77}, {'connected_gene': 'LOC100288379', 'score': 37.53}, {'connected_gene': 'CDK11A', 'score': 33.31}, {'connected_gene': 'SLC35E2', 'score': 32.23}, {'connected_gene': 'LOC100129381', 'score': 22.22}, {'connected_gene': 'TNFRSF14', 'score': 21.58}, {'connected_gene': 'FAAP20', 'score': 19.7}, {'connected_gene': 'MMEL1', 'score': 18.46}, {'connected_gene': 'RER1', 'score': 13.84}, {'connected_gene': 'ENSG00000234396', 'score': 13.28}, {'connected_gene': 'SLC35E2B', 'score': 12.84}, {'connected_gene': 'ENSG00000225931', 'score': 10.8}, {'connected_gene': 'MORN1', 'score': 10.27}, {'connected_gene': 'FAM213B', 'score': 6.66}, {'connected_gene': 'ENSG00000224387', 'score': 6.32}, {'connected_gene': 'SKI', 'score': 3.71}, {'connected_gene': 'PANK4', 'score': 1.48}, {'connected_gene': 'TNFRSF14-AS1', 'score': 0.44}]

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