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
ENST00000354981 [[16252748, 16254056], [16292979, 16293063], [16316570, 16316660], [16336974, 16337097], [16351230, 16351281], [16352309, 16352406], [16354901, 16355054], [16359449, 16360808], [16362338, 16362392], [16385457, 16385546], [16387018, 16387101], [16407748, 16407886], [16409597, 16409649], [16410507, 16410627], [16474935, 16474995], [16478257, 16478323], [16485016, 16485192], [16486366, 16486498], [16486666, 16486835], [16488602, 16488745], [16492062, 16492172], [16493470, 16493568], [16496192, 16496309], [16506736, 16506850], [16509015, 16509085], [16553873, 16554078]] [[16253897, 16254056], [16292979, 16293063], [16316570, 16316660], [16336974, 16337097], [16351230, 16351281], [16352309, 16352406], [16354901, 16355054], [16359449, 16360808], [16362338, 16362392], [16385457, 16385546], [16387018, 16387101], [16407748, 16407886], [16409597, 16409649], [16410507, 16410627], [16474935, 16474995], [16478257, 16478323], [16485016, 16485192], [16486366, 16486498], [16486666, 16486835], [16488602, 16488745], [16492062, 16492172], [16493470, 16493568], [16496192, 16496309], [16506736, 16506850], [16509015, 16509085], [16553873, 16553920]]
ENST00000378003 [[16252749, 16254056], [16292979, 16293063], [16316570, 16316660], [16351230, 16351281], [16352309, 16352406], [16354901, 16355054], [16359449, 16360808], [16362338, 16362392], [16385457, 16385546], [16387018, 16387101], [16407748, 16407886], [16409597, 16409649], [16410507, 16410627], [16474935, 16474995], [16478257, 16478323], [16485016, 16485192], [16486366, 16486498], [16486666, 16486835], [16488602, 16488745], [16492062, 16492172], [16493470, 16493568], [16496192, 16496309], [16506736, 16506850], [16509015, 16509085], [16553873, 16554078]] [[16253897, 16254056], [16292979, 16293063], [16316570, 16316660], [16351230, 16351281], [16352309, 16352406], [16354901, 16355054], [16359449, 16360324]]
ENST00000355755 [[16252749, 16254056], [16292979, 16293063], [16336974, 16337097], [16351230, 16351281], [16352309, 16352406], [16354901, 16355054], [16359449, 16360808], [16362338, 16362392], [16385457, 16385546], [16387018, 16387101], [16407748, 16407886], [16409597, 16409649], [16410507, 16410627], [16474935, 16474995], [16478257, 16478323], [16485016, 16485192], [16486366, 16486498], [16486666, 16486835], [16488602, 16488745], [16492062, 16492172], [16493470, 16493568], [16496192, 16496309], [16506736, 16506850], [16509015, 16509085], [16553873, 16554078]] [[16253897, 16254056], [16292979, 16293063], [16336974, 16337097], [16351230, 16351281], [16352309, 16352406], [16354901, 16355054], [16359449, 16360808], [16362338, 16362392], [16385457, 16385546], [16387018, 16387101], [16407748, 16407886], [16409597, 16409649], [16410507, 16410627], [16474935, 16474995], [16478257, 16478323], [16485016, 16485192], [16486366, 16486498], [16486666, 16486835], [16488602, 16488745], [16492062, 16492172], [16493470, 16493568], [16496192, 16496309], [16506736, 16506850], [16509015, 16509085], [16553873, 16553920]]
ENST00000408042 [[16347487, 16348471], [16351230, 16351281], [16352309, 16352406], [16354901, 16355054], [16359449, 16360808], [16362338, 16362392], [16385457, 16385546], [16387018, 16387101], [16407748, 16407886], [16409597, 16409649], [16410507, 16410627], [16474935, 16474995], [16478257, 16478323], [16485016, 16485192], [16486366, 16486498], [16486666, 16486835], [16488602, 16488745], [16492062, 16492172], [16493470, 16493568], [16496192, 16496309], [16506736, 16506850], [16509015, 16509085], [16553873, 16554078]] [[16347790, 16348471], [16351230, 16351281], [16352309, 16352406], [16354901, 16355054], [16359449, 16360808], [16362338, 16362392], [16385457, 16385546], [16387018, 16387101], [16407748, 16407886], [16409597, 16409649], [16410507, 16410627], [16474935, 16474995], [16478257, 16478323], [16485016, 16485192], [16486366, 16486498], [16486666, 16486835], [16488602, 16488745], [16492062, 16492172], [16493470, 16493568], [16496192, 16496309], [16506736, 16506850], [16509015, 16509085], [16553873, 16553920]]
ENST00000450176 [[16360394, 16360808], [16362338, 16362392], [16362742, 16362775], [16385457, 16385512]] [[16360394, 16360808], [16362338, 16362392], [16362742, 16362775], [16385457, 16385512]]
NM_024704 [[16252748, 16254056], [16292979, 16293063], [16316570, 16316660], [16336974, 16337097], [16351230, 16351281], [16352309, 16352406], [16354901, 16355054], [16359449, 16360808], [16362338, 16362392], [16385457, 16385546], [16387018, 16387101], [16407748, 16407886], [16409597, 16409649], [16410507, 16410627], [16474935, 16474995], [16478257, 16478323], [16485016, 16485192], [16486366, 16486498], [16486666, 16486835], [16488602, 16488745], [16492062, 16492172], [16493470, 16493568], [16496192, 16496309], [16506736, 16506850], [16509015, 16509085], [16553873, 16554079]] [[16253897, 16254056], [16292979, 16293063], [16316570, 16316660], [16336974, 16337097], [16351230, 16351281], [16352309, 16352406], [16354901, 16355054], [16359449, 16360808], [16362338, 16362392], [16385457, 16385546], [16387018, 16387101], [16407748, 16407886], [16409597, 16409649], [16410507, 16410627], [16474935, 16474995], [16478257, 16478323], [16485016, 16485192], [16486366, 16486498], [16486666, 16486835], [16488602, 16488745], [16492062, 16492172], [16493470, 16493568], [16496192, 16496309], [16506736, 16506850], [16509015, 16509085], [16553873, 16553920]]
NM_001199865 [[16252748, 16254056], [16292979, 16293063], [16316570, 16316660], [16336974, 16337097], [16351230, 16351281], [16352309, 16352406], [16359449, 16360808], [16362338, 16362392], [16385457, 16385546], [16387018, 16387101], [16407748, 16407886], [16409597, 16409649], [16410507, 16410627], [16474935, 16474995], [16478257, 16478323], [16485016, 16485192], [16486366, 16486498], [16486666, 16486835], [16488602, 16488745], [16492062, 16492172], [16493470, 16493568], [16496192, 16496309], [16506736, 16506850], [16509015, 16509085], [16553873, 16554079]] [[16253897, 16254056], [16292979, 16293063], [16316570, 16316660], [16336974, 16337097], [16351230, 16351281], [16352309, 16352406], [16359449, 16360808], [16362338, 16362392], [16385457, 16385546], [16387018, 16387101], [16407748, 16407886], [16409597, 16409649], [16410507, 16410627], [16474935, 16474995], [16478257, 16478323], [16485016, 16485192], [16486366, 16486498], [16486666, 16486835], [16488602, 16488745], [16492062, 16492172], [16493470, 16493568], [16496192, 16496309], [16506736, 16506850], [16509015, 16509085], [16553873, 16553920]]
NM_001199866 [[16347487, 16348471], [16351230, 16351281], [16352309, 16352406], [16354901, 16355054], [16359449, 16360808], [16362338, 16362392], [16385457, 16385546], [16387018, 16387101], [16407748, 16407886], [16409597, 16409649], [16410507, 16410627], [16474935, 16474995], [16478257, 16478323], [16485016, 16485192], [16486366, 16486498], [16486666, 16486835], [16488602, 16488745], [16492062, 16492172], [16493470, 16493568], [16496192, 16496309], [16506736, 16506850], [16509015, 16509085], [16553873, 16554079]] [[16347790, 16348471], [16351230, 16351281], [16352309, 16352406], [16354901, 16355054], [16359449, 16360808], [16362338, 16362392], [16385457, 16385546], [16387018, 16387101], [16407748, 16407886], [16409597, 16409649], [16410507, 16410627], [16474935, 16474995], [16478257, 16478323], [16485016, 16485192], [16486366, 16486498], [16486666, 16486835], [16488602, 16488745], [16492062, 16492172], [16493470, 16493568], [16496192, 16496309], [16506736, 16506850], [16509015, 16509085], [16553873, 16553920]]
Promoter
Chrom Start End Description
chr20 16553949 16553973 CAGE_peak_3_at_KIF16B_5end
chr20 16553974 16554028 CAGE_peak_1_at_KIF16B_5end
chr20 16554057 16554077 CAGE_peak_4_at_KIF16B_5end
chr20 16554078 16554113 CAGE_peak_2_at_KIF16B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I016392 16392496 16392747 0.52 [{'connected_gene': 'OTOR', 'score': 2.4}, {'connected_gene': 'GC20P016478', 'score': 0.17}, {'connected_gene': 'PPIAP17', 'score': 0.1}, {'connected_gene': 'KIF16B', 'score': 0.09}]
chr20 GH20I016541 16541356 16541505 0.54 [{'connected_gene': 'KIF16B', 'score': 10.94}, {'connected_gene': 'ENSG00000228809', 'score': 10.42}, {'connected_gene': 'SNRPB2', 'score': 10.42}, {'connected_gene': 'GC20P016478', 'score': 0.21}]
chr20 GH20I016532 16532713 16534066 0.43 [{'connected_gene': 'KIF16B', 'score': 30.12}, {'connected_gene': 'ENSG00000228809', 'score': 9.67}, {'connected_gene': 'SNRPB2', 'score': 9.67}, {'connected_gene': 'GC20P016478', 'score': 0.22}]
chr20 GH20I016538 16538722 16540101 0.2 [{'connected_gene': 'KIF16B', 'score': 40.43}, {'connected_gene': 'ENSG00000228809', 'score': 10.42}, {'connected_gene': 'SNRPB2', 'score': 10.42}, {'connected_gene': 'GC20P016478', 'score': 0.21}]
chr20 GH20I016526 16526933 16531619 1.08 [{'connected_gene': 'KIF16B', 'score': 38.89}, {'connected_gene': 'ENSG00000228809', 'score': 9.74}, {'connected_gene': 'SNRPB2', 'score': 9.74}, {'connected_gene': 'GC20P016478', 'score': 0.23}]
chr20 GH20I016158 16158601 16158800 0.31 [{'connected_gene': 'KIF16B', 'score': 4.48}, {'connected_gene': 'PPIAP17', 'score': 0.2}, {'connected_gene': 'GC20P016020', 'score': 0.12}]
chr20 GH20I016434 16434236 16434345 0.63 [{'connected_gene': 'KIF16B', 'score': 12.12}, {'connected_gene': 'GC20P016478', 'score': 0.26}, {'connected_gene': 'PPIAP17', 'score': 0.08}]
chr20 GH20I016614 16614743 16616130 0.49 [{'connected_gene': 'KIF16B', 'score': 38.15}, {'connected_gene': 'LOC105372542', 'score': 0.77}, {'connected_gene': 'GC20M016670', 'score': 0.22}, {'connected_gene': 'ENSG00000200494', 'score': 0.22}]
chr20 GH20I016639 16639224 16640152 0.49 [{'connected_gene': 'KIF16B', 'score': 10.71}, {'connected_gene': 'LOC105372542', 'score': 0.31}, {'connected_gene': 'GC20M016670', 'score': 0.29}, {'connected_gene': 'ENSG00000200494', 'score': 0.29}]
chr20 GH20I016624 16624256 16624365 0.49 [{'connected_gene': 'KIF16B', 'score': 11.02}, {'connected_gene': 'LOC105372542', 'score': 0.39}, {'connected_gene': 'GC20M016670', 'score': 0.25}, {'connected_gene': 'ENSG00000200494', 'score': 0.25}]
chr20 GH20I016661 16661427 16664878 0.52 [{'connected_gene': 'KIF16B', 'score': 16.47}, {'connected_gene': 'GC20M016670', 'score': 0.44}, {'connected_gene': 'ENSG00000200494', 'score': 0.44}, {'connected_gene': 'LOC105372542', 'score': 0.23}]
chr20 GH20I016606 16606623 16609319 0.68 [{'connected_gene': 'KIF16B', 'score': 34.43}, {'connected_gene': 'LOC105372541', 'score': 0.77}, {'connected_gene': 'LOC105372542', 'score': 0.77}]
chr20 GH20I016536 16536699 16537507 0.31 [{'connected_gene': 'KIF16B', 'score': 20.3}, {'connected_gene': 'GC20P016478', 'score': 0.22}]
chr20 GH20I016484 16484917 16487894 0.2 [{'connected_gene': 'KIF16B', 'score': 9.7}, {'connected_gene': 'GC20P016478', 'score': 0.44}]
chr20 GH20I016571 16571401 16571600 0.2 [{'connected_gene': 'KIF16B', 'score': 598.56}, {'connected_gene': 'GC20P016478', 'score': 0.16}]
chr20 GH20I016552 16552116 16552265 0.2 [{'connected_gene': 'KIF16B', 'score': 40.48}, {'connected_gene': 'GC20P016478', 'score': 0.19}]
chr20 GH20I016551 16551676 16551825 0.46 [{'connected_gene': 'KIF16B', 'score': 43.96}, {'connected_gene': 'GC20P016478', 'score': 0.19}]
chr20 GH20I016572 16572007 16576109 2.04 [{'connected_gene': 'KIF16B', 'score': 599.75}, {'connected_gene': 'ENSG00000273998', 'score': 0.77}]
chr20 GH20I016283 16283884 16284413 0.31 [{'connected_gene': 'PPIAP17', 'score': 0.22}, {'connected_gene': 'GC20P016478', 'score': 0.08}, {'connected_gene': 'KIF16B', 'score': 0.06}]
chr20 GH20I016317 16317801 16318600 0.63 [{'connected_gene': 'PPIAP17', 'score': 0.16}, {'connected_gene': 'GC20P016478', 'score': 0.1}, {'connected_gene': 'KIF16B', 'score': 0.07}]
chr20 GH20I016351 16351965 16352165 0.2 [{'connected_gene': 'PPIAP17', 'score': 0.13}, {'connected_gene': 'GC20P016478', 'score': 0.13}, {'connected_gene': 'KIF16B', 'score': 0.07}]
chr20 GH20I016350 16350109 16351160 0.51 [{'connected_gene': 'PPIAP17', 'score': 0.13}, {'connected_gene': 'GC20P016478', 'score': 0.13}, {'connected_gene': 'KIF16B', 'score': 0.07}]
chr20 GH20I016349 16349936 16350085 0.31 [{'connected_gene': 'PPIAP17', 'score': 0.13}, {'connected_gene': 'GC20P016478', 'score': 0.13}, {'connected_gene': 'KIF16B', 'score': 0.07}]
chr20 GH20I016352 16351476 16351625 0.31 [{'connected_gene': 'PPIAP17', 'score': 0.13}, {'connected_gene': 'GC20P016478', 'score': 0.13}, {'connected_gene': 'KIF16B', 'score': 0.07}]
chr20 GH20I016308 16308071 16310407 0.2 [{'connected_gene': 'PPIAP17', 'score': 0.18}, {'connected_gene': 'GC20P016478', 'score': 0.1}, {'connected_gene': 'KIF16B', 'score': 0.07}]
chr20 GH20I016280 16280105 16280882 0.31 [{'connected_gene': 'PPIAP17', 'score': 0.22}, {'connected_gene': 'GC20P016478', 'score': 0.08}, {'connected_gene': 'KIF16B', 'score': 0.06}]
chr20 GH20I016586 16586387 16588177 0.38 [{'connected_gene': 'RPLP0P1', 'score': 550.77}, {'connected_gene': 'KIF16B', 'score': 20.69}, {'connected_gene': 'LOC105372541', 'score': 0.37}]
chr20 GH20I016605 16605415 16605538 0.25 [{'connected_gene': 'LOC105372541', 'score': 550.77}, {'connected_gene': 'KIF16B', 'score': 9.82}, {'connected_gene': 'RPLP0P1', 'score': 0.37}]
chr20 GH20I016578 16578908 16581539 0.9 [{'connected_gene': 'ENSG00000275728', 'score': 550.77}, {'connected_gene': 'KIF16B', 'score': 48.8}, {'connected_gene': 'SNRPB2', 'score': 10.08}, {'connected_gene': 'ENSG00000228809', 'score': 10.07}, {'connected_gene': 'ENSG00000273998', 'score': 0.77}]
chr20 GH20I016462 16462956 16463025 0.38 [{'connected_gene': 'GC20P016478', 'score': 0.37}, {'connected_gene': 'KIF16B', 'score': 0.14}, {'connected_gene': 'PPIAP17', 'score': 0.07}]
chr20 GH20I016474 16474655 16475977 0.9 [{'connected_gene': 'GC20P016478', 'score': 0.77}, {'connected_gene': 'KIF16B', 'score': 0.15}, {'connected_gene': 'PPIAP17', 'score': 0.07}]
chr20 GH20I016459 16459456 16459605 0.49 [{'connected_gene': 'GC20P016478', 'score': 0.37}, {'connected_gene': 'KIF16B', 'score': 0.14}, {'connected_gene': 'PPIAP17', 'score': 0.07}]
chr20 GH20I016395 16395551 16395828 0.2 [{'connected_gene': 'GC20P016478', 'score': 0.18}, {'connected_gene': 'KIF16B', 'score': 0.1}, {'connected_gene': 'PPIAP17', 'score': 0.09}]
chr20 GH20I016444 16444216 16444345 0.2 [{'connected_gene': 'GC20P016478', 'score': 0.29}, {'connected_gene': 'KIF16B', 'score': 0.13}, {'connected_gene': 'PPIAP17', 'score': 0.08}]
chr20 GH20I016472 16472351 16472788 0.78 [{'connected_gene': 'GC20P016478', 'score': 0.44}, {'connected_gene': 'KIF16B', 'score': 0.15}, {'connected_gene': 'PPIAP17', 'score': 0.07}]
chr20 GH20I016581 16581606 16581906 0.22 [{'connected_gene': 'ENSG00000275728', 'score': 550.77}, {'connected_gene': 'KIF16B', 'score': 38.52}, {'connected_gene': 'RPLP0P1', 'score': 0.44}]
chr20 GH20I016518 16518456 16518585 0.63 [{'connected_gene': 'GC20P016478', 'score': 0.26}, {'connected_gene': 'KIF16B', 'score': 0.23}]
chr20 GH20I016479 16479376 16480178 0.57 [{'connected_gene': 'GC20P016478', 'score': 550.77}, {'connected_gene': 'KIF16B', 'score': 9.69}]
chr20 GH20I016491 16491033 16491872 0.77 [{'connected_gene': 'GC20P016478', 'score': 0.39}, {'connected_gene': 'KIF16B', 'score': 0.18}]
chr20 GH20I016514 16514001 16514800 0.2 [{'connected_gene': 'GC20P016478', 'score': 0.28}, {'connected_gene': 'KIF16B', 'score': 0.22}]
chr20 GH20I016397 16397040 16401292 0.31 [{'connected_gene': 'GC20P016478', 'score': 0.18}, {'connected_gene': 'PPIAP17', 'score': 0.09}, {'connected_gene': 'KIF16B', 'score': 0.09}]
chr20 GH20I016368 16368776 16368945 0.68 [{'connected_gene': 'GC20P016478', 'score': 0.14}, {'connected_gene': 'PPIAP17', 'score': 0.11}, {'connected_gene': 'KIF16B', 'score': 0.08}]

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