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
ENST00000260323 [[54305100, 54308083], [54435214, 54435237], [54435816, 54435881], [54527227, 54527306], [54528627, 54528633], [54529816, 54529888], [54542422, 54542642], [54556365, 54556593], [54557552, 54557694], [54586092, 54586262], [54590008, 54590124], [54592407, 54592571], [54614136, 54614293], [54624240, 54624309], [54625964, 54626054], [54630558, 54630687], [54685245, 54685379], [54707179, 54707265], [54786805, 54786932], [54792276, 54792373], [54793032, 54793176], [54799314, 54799392], [54803950, 54804028], [54817746, 54817835], [54825114, 54825264], [54838919, 54839043], [54841832, 54841889], [54847629, 54847710], [54859997, 54860145], [54914524, 54914617], [54915992, 54916152], [54919025, 54920797]] [[54305100, 54308083], [54435214, 54435237], [54435816, 54435881], [54527227, 54527306], [54528627, 54528633], [54529816, 54529888], [54542422, 54542642], [54556365, 54556593], [54557552, 54557694], [54586092, 54586262], [54590008, 54590124], [54592407, 54592571], [54614136, 54614293], [54624240, 54624309], [54625964, 54626054], [54630558, 54630687], [54685245, 54685379], [54707179, 54707265], [54786805, 54786932], [54792276, 54792373], [54793032, 54793176], [54799314, 54799392], [54803950, 54804028], [54817746, 54817835], [54825114, 54825264], [54838919, 54839043], [54841832, 54841889], [54847629, 54847710], [54859997, 54860145], [54914524, 54914617], [54915992, 54916152], [54919025, 54919311]]
ENST00000545554 [[54305100, 54308083], [54336621, 54336644], [54435816, 54435881], [54527227, 54527306], [54529747, 54529753], [54529816, 54529888], [54542422, 54542642], [54556365, 54556593], [54557552, 54557694], [54586092, 54586262], [54590008, 54590124], [54592407, 54592571], [54614136, 54614293], [54624240, 54624309], [54625964, 54626054], [54630558, 54630687], [54685245, 54685379], [54707179, 54707265], [54786805, 54786932], [54792276, 54792373], [54793032, 54793176], [54799314, 54799392], [54803950, 54804028], [54817746, 54817835], [54825114, 54825264], [54838919, 54839043], [54841832, 54841889], [54847629, 54847710], [54859997, 54860145], [54914524, 54914617], [54915992, 54916152], [54919025, 54920806]] [[54305100, 54308083], [54336621, 54336644], [54435816, 54435881], [54527227, 54527306], [54529747, 54529753], [54529816, 54529888], [54542422, 54542642], [54556365, 54556593], [54557552, 54557694], [54586092, 54586262], [54590008, 54590124], [54592407, 54592571], [54614136, 54614293], [54624240, 54624309], [54625964, 54626054], [54630558, 54630687], [54685245, 54685379], [54707179, 54707265], [54786805, 54786932], [54792276, 54792373], [54793032, 54793176], [54799314, 54799392], [54803950, 54804028], [54817746, 54817835], [54825114, 54825264], [54838919, 54839043], [54841832, 54841889], [54847629, 54847710], [54859997, 54860145], [54914524, 54914617], [54915992, 54916152], [54919025, 54919311]]
ENST00000537900 [[54305100, 54308083], [54435214, 54435237], [54435816, 54435881], [54527227, 54527306], [54529816, 54529888], [54542422, 54542642], [54556365, 54556593], [54557552, 54557694], [54586092, 54586262], [54590008, 54590124], [54592407, 54592571], [54614136, 54614293], [54624240, 54624309], [54625964, 54626054], [54630558, 54630687], [54685245, 54685379], [54707179, 54707265], [54786805, 54786932], [54792276, 54792373], [54793032, 54793176], [54799314, 54799392], [54803950, 54804028], [54817746, 54817835], [54825114, 54825264], [54838919, 54839043], [54841832, 54841889], [54847629, 54847710], [54859997, 54860145], [54914524, 54914617], [54915992, 54916152], [54919025, 54920806]] [[54305100, 54308083], [54435214, 54435237], [54435816, 54435881], [54527227, 54527306], [54529816, 54529888], [54542422, 54542642], [54556365, 54556593], [54557552, 54557694], [54586092, 54586262], [54590008, 54590124], [54592407, 54592571], [54614136, 54614293], [54624240, 54624309], [54625964, 54626054], [54630558, 54630687], [54685245, 54685379], [54707179, 54707265], [54786805, 54786932], [54792276, 54792373], [54793032, 54793176], [54799314, 54799392], [54803950, 54804028], [54817746, 54817835], [54825114, 54825264], [54838919, 54839043], [54841832, 54841889], [54847629, 54847710], [54859997, 54860145], [54914524, 54914617], [54915992, 54916152], [54919025, 54919311]]
ENST00000561210 [[54556342, 54556593], [54557552, 54557694], [54586092, 54586262], [54590008, 54590124], [54592407, 54592571], [54614136, 54614293], [54624240, 54624309], [54625964, 54626054], [54630558, 54630687], [54685245, 54685379], [54707179, 54707265], [54709083, 54709268]] None
ENST00000539562 [[54901539, 54901642], [54914524, 54914617], [54915992, 54916152], [54919025, 54919607]] [[54916030, 54916152], [54919025, 54919311]]
ENST00000559093 [[54793168, 54793176], [54799314, 54799392], [54803950, 54804028], [54804545, 54804575], [54817746, 54817835], [54825114, 54825264], [54838919, 54839021]] [[54793168, 54793176], [54799314, 54799392], [54803950, 54804028], [54804545, 54804575], [54817746, 54817835], [54825114, 54825264], [54838919, 54839021]]
ENST00000560537 [[54903672, 54903842], [54914524, 54914617], [54915992, 54916091]] [[54916030, 54916091]]
NM_001329919 [[54270376, 54271124], [54304844, 54308083], [54435214, 54435237], [54435816, 54435881], [54527227, 54527306], [54529816, 54529888], [54542422, 54542642], [54556365, 54556593], [54557552, 54557694], [54586092, 54586262], [54590008, 54590124], [54592407, 54592571], [54614136, 54614293], [54624240, 54624309], [54625964, 54626054], [54630558, 54630687], [54685245, 54685379], [54707179, 54707265], [54786805, 54786932], [54792276, 54792373], [54793032, 54793176], [54799314, 54799392], [54803950, 54804028], [54817746, 54817835], [54825114, 54825264], [54838919, 54839043], [54841832, 54841889], [54847629, 54847710], [54859997, 54860145], [54914524, 54914617], [54915992, 54916152], [54919025, 54920806]] [[54305100, 54308083], [54435214, 54435237], [54435816, 54435881], [54527227, 54527306], [54529816, 54529888], [54542422, 54542642], [54556365, 54556593], [54557552, 54557694], [54586092, 54586262], [54590008, 54590124], [54592407, 54592571], [54614136, 54614293], [54624240, 54624309], [54625964, 54626054], [54630558, 54630687], [54685245, 54685379], [54707179, 54707265], [54786805, 54786932], [54792276, 54792373], [54793032, 54793176], [54799314, 54799392], [54803950, 54804028], [54817746, 54817835], [54825114, 54825264], [54838919, 54839043], [54841832, 54841889], [54847629, 54847710], [54859997, 54860145], [54914524, 54914617], [54915992, 54916152], [54919025, 54919311]]
NM_001080534 [[54304844, 54308083], [54435214, 54435237], [54435816, 54435881], [54527227, 54527306], [54528627, 54528633], [54529816, 54529888], [54542422, 54542642], [54556365, 54556593], [54557552, 54557694], [54586092, 54586262], [54590008, 54590124], [54592407, 54592571], [54614136, 54614293], [54624240, 54624309], [54625964, 54626054], [54630558, 54630687], [54685245, 54685379], [54707179, 54707265], [54786805, 54786932], [54792276, 54792373], [54793032, 54793176], [54799314, 54799392], [54803950, 54804028], [54817746, 54817835], [54825114, 54825264], [54838919, 54839043], [54841832, 54841889], [54847629, 54847710], [54859997, 54860145], [54914524, 54914617], [54915992, 54916152], [54919025, 54920806]] [[54305100, 54308083], [54435214, 54435237], [54435816, 54435881], [54527227, 54527306], [54528627, 54528633], [54529816, 54529888], [54542422, 54542642], [54556365, 54556593], [54557552, 54557694], [54586092, 54586262], [54590008, 54590124], [54592407, 54592571], [54614136, 54614293], [54624240, 54624309], [54625964, 54626054], [54630558, 54630687], [54685245, 54685379], [54707179, 54707265], [54786805, 54786932], [54792276, 54792373], [54793032, 54793176], [54799314, 54799392], [54803950, 54804028], [54817746, 54817835], [54825114, 54825264], [54838919, 54839043], [54841832, 54841889], [54847629, 54847710], [54859997, 54860145], [54914524, 54914617], [54915992, 54916152], [54919025, 54919311]]
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I053830 53830053 53833793 1.1 [{'connected_gene': 'UNC13C', 'score': 18.82}, {'connected_gene': 'WDR72', 'score': 6.68}, {'connected_gene': 'ENSG00000259301', 'score': 0.44}, {'connected_gene': 'RNU6-449P', 'score': 0.2}]
chr15 GH15I053861 53861671 53863455 0.2 [{'connected_gene': 'UNC13C', 'score': 19.58}, {'connected_gene': 'WDR72', 'score': 4.83}, {'connected_gene': 'ENSG00000259301', 'score': 0.31}, {'connected_gene': 'ENSG00000280362', 'score': 0.25}]
chr15 GH15I054100 54100103 54100200 0.24 [{'connected_gene': 'UNC13C', 'score': 10.76}, {'connected_gene': 'GC15P054127', 'score': 0.31}, {'connected_gene': 'LOC100422032', 'score': 0.25}]
chr15 GH15I054012 54012862 54012921 0.61 [{'connected_gene': 'UNC13C', 'score': 550.29}, {'connected_gene': 'LOC100422032', 'score': 0.28}]
chr15 GH15I054167 54167600 54167620 0.23 [{'connected_gene': 'UNC13C', 'score': 7.25}, {'connected_gene': 'GC15P054127', 'score': 0.28}, {'connected_gene': 'HNRNPA1P74', 'score': 0.1}]
chr15 GH15I054577 54577318 54578809 0.31 [{'connected_gene': 'UNC13C', 'score': 4.42}, {'connected_gene': 'GC15M057404', 'score': 0.29}, {'connected_gene': 'GC15M057436', 'score': 0.21}]
chr15 GH15I054617 54617802 54620151 0.63 [{'connected_gene': 'UNC13C', 'score': 5.96}, {'connected_gene': 'GC15M057404', 'score': 0.44}, {'connected_gene': 'GC15P054741', 'score': 0.13}]
chr15 GH15I054033 54033464 54033613 0.2 [{'connected_gene': 'LOC100422032', 'score': 0.37}, {'connected_gene': 'UNC13C', 'score': 0.22}]
chr15 GH15I054326 54326183 54326332 0.31 [{'connected_gene': 'HNRNPA1P74', 'score': 0.77}, {'connected_gene': 'GC15M057436', 'score': 0.08}, {'connected_gene': 'UNC13C', 'score': 0.05}]
chr15 GH15I054247 54247005 54247032 0.33 [{'connected_gene': 'HNRNPA1P74', 'score': 0.19}, {'connected_gene': 'GC15P054127', 'score': 0.13}, {'connected_gene': 'UNC13C', 'score': 0.06}]
chr15 GH15I053837 53837304 53837473 0.59 [{'connected_gene': 'ENSG00000259301', 'score': 550.77}, {'connected_gene': 'UNC13C', 'score': 16.63}, {'connected_gene': 'RNU6-449P', 'score': 0.19}]
chr15 GH15I053978 53978201 53978999 0.74 [{'connected_gene': 'ENSG00000259669', 'score': 558.18}, {'connected_gene': 'UNC13C', 'score': 550.77}, {'connected_gene': 'GC15P053932', 'score': 0.25}, {'connected_gene': 'LOC100422032', 'score': 0.19}]
chr15 GH15I053982 53982307 53982463 0.33 [{'connected_gene': 'ENSG00000259669', 'score': 6.86}, {'connected_gene': 'UNC13C', 'score': 0.77}, {'connected_gene': 'LOC100422032', 'score': 0.2}]
chr15 GH15I054148 54148713 54149549 0.54 [{'connected_gene': 'GC15P054127', 'score': 0.34}, {'connected_gene': 'UNC13C', 'score': 0.09}, {'connected_gene': 'HNRNPA1P74', 'score': 0.09}]
chr15 GH15I054150 54150384 54150533 0.71 [{'connected_gene': 'GC15P054127', 'score': 0.34}, {'connected_gene': 'UNC13C', 'score': 0.09}, {'connected_gene': 'HNRNPA1P74', 'score': 0.09}]
chr15 GH15I054599 54599251 54599665 0.2 [{'connected_gene': 'GC15M057404', 'score': 0.39}, {'connected_gene': 'GC15M057436', 'score': 0.18}, {'connected_gene': 'UNC13C', 'score': 0.03}]
chr15 GH15I054583 54583600 54584000 0.56 [{'connected_gene': 'GC15M057404', 'score': 0.31}, {'connected_gene': 'GC15M057436', 'score': 0.2}, {'connected_gene': 'UNC13C', 'score': 0.03}]
chr15 GH15I054519 54519643 54520338 0.59 [{'connected_gene': 'GC15M057436', 'score': 0.77}, {'connected_gene': 'GC15M057404', 'score': 0.16}, {'connected_gene': 'UNC13C', 'score': 0.03}]
chr15 GH15I054499 54499175 54499576 0.24 [{'connected_gene': 'GC15M057436', 'score': 0.37}, {'connected_gene': 'HNRNPA1P74', 'score': 0.1}, {'connected_gene': 'UNC13C', 'score': 0.03}]

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