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
ENST00000557325 [[74424712, 74426256], [74436712, 74436828], [74438554, 74438611], [74439586, 74439727], [74440579, 74440681], [74441626, 74441688], [74442638, 74442718], [74443026, 74443115], [74443726, 74443762], [74444001, 74444077], [74449720, 74449864], [74453516, 74453596], [74454588, 74454875], [74474398, 74474515], [74477793, 74477853], [74482526, 74482631]] [[74426232, 74426256], [74436712, 74436828], [74438554, 74438611], [74439586, 74439727], [74440579, 74440681], [74441626, 74441688], [74442638, 74442718], [74443026, 74443115], [74443726, 74443762], [74444001, 74444077], [74449720, 74449864], [74453516, 74453596], [74454588, 74454805]]
ENST00000334696 [[74429395, 74433717], [74436712, 74436828], [74438554, 74438611], [74439586, 74439727], [74440579, 74440681], [74441626, 74441688], [74442638, 74442718], [74443026, 74443115], [74443726, 74443762], [74444001, 74444077], [74449720, 74449864], [74453516, 74453596], [74454588, 74454875], [74477793, 74477853], [74482526, 74482633], [74485952, 74486035]] [[74433630, 74433717], [74436712, 74436828], [74438554, 74438611], [74439586, 74439727], [74440579, 74440681], [74441626, 74441688], [74442638, 74442718], [74443026, 74443115], [74443726, 74443762], [74444001, 74444077], [74449720, 74449864], [74453516, 74453596], [74454588, 74454805]]
ENST00000553284 [[74443035, 74443115], [74443726, 74443762], [74444001, 74444077], [74449720, 74449864], [74453516, 74453596], [74454588, 74454875], [74462810, 74463011]] [[74443035, 74443115], [74443726, 74443762], [74444001, 74444077], [74449720, 74449864], [74453516, 74453596], [74454588, 74454805]]
ENST00000555829 [[74427786, 74428253], [74436712, 74436828], [74438554, 74438611], [74439586, 74439637]] [[74428235, 74428253], [74436712, 74436828], [74438554, 74438611], [74439586, 74439637]]
ENST00000556242 [[74452926, 74453848], [74454588, 74454875], [74477793, 74477853], [74482526, 74482633], [74485952, 74486013]] [[74453789, 74453848], [74454588, 74454805]]
ENST00000554664 [[74454849, 74454875], [74477793, 74477853], [74482526, 74482633], [74485176, 74486102]] None
ENST00000556108 [[74463219, 74463479], [74477793, 74477853], [74482550, 74482633], [74485952, 74486000]] None
ENST00000557681 [[74475632, 74475895], [74477793, 74477853], [74482526, 74482633], [74485952, 74485974]] None
NM_001330189 [[74424618, 74426256], [74436712, 74436828], [74438554, 74438611], [74439586, 74439727], [74440579, 74440681], [74441626, 74441688], [74442638, 74442718], [74443026, 74443115], [74443726, 74443762], [74444001, 74444077], [74449720, 74449864], [74453516, 74453596], [74454588, 74454875], [74463352, 74463479], [74477793, 74477853], [74482526, 74482633], [74485952, 74486035]] [[74426232, 74426256], [74436712, 74436828], [74438554, 74438611], [74439586, 74439727], [74440579, 74440681], [74441626, 74441688], [74442638, 74442718], [74443026, 74443115], [74443726, 74443762], [74444001, 74444077], [74449720, 74449864], [74453516, 74453596], [74454588, 74454805]]
NM_001321984 [[74427800, 74428253], [74436712, 74436828], [74438554, 74438611], [74439586, 74439727], [74440579, 74440681], [74441626, 74441688], [74442638, 74442718], [74443026, 74443115], [74443726, 74443762], [74444001, 74444077], [74449720, 74449864], [74453516, 74453596], [74454588, 74454875], [74463352, 74463479], [74477793, 74477853], [74482526, 74482633], [74485952, 74486026]] [[74428235, 74428253], [74436712, 74436828], [74438554, 74438611], [74439586, 74439727], [74440579, 74440681], [74441626, 74441688], [74442638, 74442718], [74443026, 74443115], [74443726, 74443762], [74444001, 74444077], [74449720, 74449864], [74453516, 74453596], [74454588, 74454805]]
NM_001321988 [[74429932, 74433717], [74436712, 74436828], [74438554, 74438611], [74439586, 74439727], [74440579, 74440681], [74441626, 74441688], [74442638, 74442718], [74443026, 74443115], [74443726, 74443762], [74444001, 74444077], [74449720, 74449864], [74453516, 74453596], [74454588, 74454875], [74477793, 74477853], [74482526, 74482633], [74485176, 74486026]] [[74433630, 74433717], [74436712, 74436828], [74438554, 74438611], [74439586, 74439727], [74440579, 74440681], [74441626, 74441688], [74442638, 74442718], [74443026, 74443115], [74443726, 74443762], [74444001, 74444077], [74449720, 74449864], [74453516, 74453596], [74454588, 74454805]]
NM_001321987 [[74429932, 74433717], [74436712, 74436828], [74438554, 74438611], [74439586, 74439727], [74440579, 74440681], [74441626, 74441688], [74442638, 74442718], [74443026, 74443115], [74443726, 74443762], [74444001, 74444077], [74449720, 74449864], [74453516, 74453596], [74454588, 74454875], [74463352, 74463479], [74474398, 74474515], [74477793, 74477853], [74482526, 74482633], [74485952, 74486026]] [[74433630, 74433717], [74436712, 74436828], [74438554, 74438611], [74439586, 74439727], [74440579, 74440681], [74441626, 74441688], [74442638, 74442718], [74443026, 74443115], [74443726, 74443762], [74444001, 74444077], [74449720, 74449864], [74453516, 74453596], [74454588, 74454805]]
NM_001321985 [[74429932, 74433717], [74436712, 74436828], [74438554, 74438611], [74439586, 74439727], [74440579, 74440681], [74441626, 74441688], [74442638, 74442718], [74443026, 74443115], [74443726, 74443762], [74444001, 74444077], [74449720, 74449864], [74453516, 74453596], [74454588, 74454875], [74474398, 74474515], [74477793, 74477853], [74482526, 74482633], [74485952, 74486026]] [[74433630, 74433717], [74436712, 74436828], [74438554, 74438611], [74439586, 74439727], [74440579, 74440681], [74441626, 74441688], [74442638, 74442718], [74443026, 74443115], [74443726, 74443762], [74444001, 74444077], [74449720, 74449864], [74453516, 74453596], [74454588, 74454805]]
NM_001249 [[74429932, 74433717], [74436712, 74436828], [74438554, 74438611], [74439586, 74439727], [74440579, 74440681], [74441626, 74441688], [74442638, 74442718], [74443026, 74443115], [74443726, 74443762], [74444001, 74444077], [74449720, 74449864], [74453516, 74453596], [74454588, 74454875], [74477793, 74477853], [74482526, 74482633], [74485952, 74486026]] [[74433630, 74433717], [74436712, 74436828], [74438554, 74438611], [74439586, 74439727], [74440579, 74440681], [74441626, 74441688], [74442638, 74442718], [74443026, 74443115], [74443726, 74443762], [74444001, 74444077], [74449720, 74449864], [74453516, 74453596], [74454588, 74454805]]
NM_001321986 [[74429932, 74433717], [74436712, 74436828], [74438554, 74438611], [74439586, 74439727], [74440579, 74440681], [74441626, 74441688], [74442638, 74442718], [74443026, 74443115], [74443726, 74443762], [74444001, 74444077], [74449720, 74449864], [74453516, 74453596], [74454588, 74454875], [74471307, 74471428], [74477793, 74477853], [74482550, 74482633], [74485952, 74486026]] [[74433630, 74433717], [74436712, 74436828], [74438554, 74438611], [74439586, 74439727], [74440579, 74440681], [74441626, 74441688], [74442638, 74442718], [74443026, 74443115], [74443726, 74443762], [74444001, 74444077], [74449720, 74449864], [74453516, 74453596], [74454588, 74454805]]
Promoter
Chrom Start End Description
chr14 74454889 74454892 CAGE_peak_10_at_ENTPD5_5end
chr14 74462846 74462877 CAGE_peak_2_at_ENTPD5_5end
chr14 74462922 74462955 CAGE_peak_3_at_ENTPD5_5end
chr14 74485960 74486017 CAGE_peak_1_at_ENTPD5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I074017 74017732 74020332 2 [{'connected_gene': 'ENTPD5', 'score': 557.6}, {'connected_gene': 'BBOF1', 'score': 550.77}, {'connected_gene': 'LOC100506476', 'score': 38.77}, {'connected_gene': 'ZNF410', 'score': 15.38}, {'connected_gene': 'NUMB', 'score': 14.95}, {'connected_gene': 'ELMSAN1', 'score': 12.75}, {'connected_gene': 'RBM25', 'score': 11.11}, {'connected_gene': 'PGF', 'score': 10.15}, {'connected_gene': 'LIN52', 'score': 6.77}, {'connected_gene': 'RPL41P4', 'score': 0.37}]
chr14 GH14I074061 74061488 74063187 0.59 [{'connected_gene': 'LIN52', 'score': 27.58}, {'connected_gene': 'ALDH6A1', 'score': 12.53}, {'connected_gene': 'LOC100506476', 'score': 10.89}, {'connected_gene': 'ENTPD5', 'score': 7.52}, {'connected_gene': 'PTGR2', 'score': 5.46}, {'connected_gene': 'GC14P074048', 'score': 0.39}, {'connected_gene': 'BBOF1', 'score': 0.26}]
chr14 GH14I073949 73949296 73951373 2.05 [{'connected_gene': 'COQ6', 'score': 550.77}, {'connected_gene': 'FAM161B', 'score': 550.77}, {'connected_gene': 'LOC100506476', 'score': 41.94}, {'connected_gene': 'PTGR2', 'score': 27.67}, {'connected_gene': 'ENTPD5', 'score': 6.15}, {'connected_gene': 'GC14M073922', 'score': 0.44}]
chr14 GH14I074027 74027930 74029273 0.57 [{'connected_gene': 'FAM161B', 'score': 16.82}, {'connected_gene': 'LIN52', 'score': 11.14}, {'connected_gene': 'ALDH6A1', 'score': 11.14}, {'connected_gene': 'COQ6', 'score': 11.04}, {'connected_gene': 'LINC02274', 'score': 10.04}, {'connected_gene': 'ENTPD5', 'score': 6.3}, {'connected_gene': 'BBOF1', 'score': 0.44}, {'connected_gene': 'GC14P074048', 'score': 0.34}]
chr14 GH14I073861 73861199 73862965 0.73 [{'connected_gene': 'PTGR2', 'score': 31.54}, {'connected_gene': 'ENTPD5', 'score': 6.03}, {'connected_gene': 'LIN52', 'score': 4.47}, {'connected_gene': 'ENSG00000223300', 'score': 0.77}, {'connected_gene': 'ENSG00000258653', 'score': 0.39}, {'connected_gene': 'ENSG00000273711', 'score': 0.34}]
chr14 GH14I073994 73994254 74000427 1.08 [{'connected_gene': 'PTGR2', 'score': 28.31}, {'connected_gene': 'LIN52', 'score': 16.64}, {'connected_gene': 'LOC100506476', 'score': 15.3}, {'connected_gene': 'COQ6', 'score': 11.58}, {'connected_gene': 'FAM161B', 'score': 11.58}, {'connected_gene': 'ALDH6A1', 'score': 10.13}, {'connected_gene': 'ENSG00000223300', 'score': 9.78}, {'connected_gene': 'ENTPD5', 'score': 6.15}, {'connected_gene': 'BBOF1', 'score': 5.44}, {'connected_gene': 'RPL41P4', 'score': 0.44}, {'connected_gene': 'GC14M073963', 'score': 0.29}]
chr14 GH14I073928 73928747 73930339 0.2 [{'connected_gene': 'PTGR2', 'score': 29.03}, {'connected_gene': 'FAM161B', 'score': 20.11}, {'connected_gene': 'LOC100506476', 'score': 18.92}, {'connected_gene': 'COQ6', 'score': 12.45}, {'connected_gene': 'ALDH6A1', 'score': 10.65}, {'connected_gene': 'LIN52', 'score': 10.65}, {'connected_gene': 'ENSG00000223300', 'score': 10.53}, {'connected_gene': 'ENTPD5', 'score': 6.1}, {'connected_gene': 'ENSG00000258891', 'score': 0.44}, {'connected_gene': 'ENSG00000199472', 'score': 0.34}, {'connected_gene': 'GC14M073922', 'score': 0.31}, {'connected_gene': 'ZNF410', 'score': 0.26}, {'connected_gene': 'ENSG00000258653', 'score': 0.18}]
chr14 GH14I073898 73898188 73899956 0.31 [{'connected_gene': 'PTGR2', 'score': 42.06}, {'connected_gene': 'LOC100506476', 'score': 40.75}, {'connected_gene': 'ENSG00000223300', 'score': 10.93}, {'connected_gene': 'ENTPD5', 'score': 6.05}, {'connected_gene': 'LIN52', 'score': 4.39}, {'connected_gene': 'ENSG00000270140', 'score': 0.44}, {'connected_gene': 'PIR36223', 'score': 0.39}, {'connected_gene': 'ZNF410', 'score': 0.39}, {'connected_gene': 'ENSG00000258891', 'score': 0.28}, {'connected_gene': 'ENSG00000258653', 'score': 0.25}]
chr14 GH14I073942 73942330 73944202 0.86 [{'connected_gene': 'PTGR2', 'score': 29.4}, {'connected_gene': 'LOC100506476', 'score': 19.5}, {'connected_gene': 'LIN52', 'score': 9.51}, {'connected_gene': 'ALDH6A1', 'score': 9.51}, {'connected_gene': 'LINC02274', 'score': 8.88}, {'connected_gene': 'ENTPD5', 'score': 6.17}, {'connected_gene': 'COQ6', 'score': 0.44}, {'connected_gene': 'ENSG00000258891', 'score': 0.44}, {'connected_gene': 'FAM161B', 'score': 0.44}, {'connected_gene': 'GC14M073922', 'score': 0.39}]
chr14 GH14I073849 73849846 73853324 2.05 [{'connected_gene': 'PTGR2', 'score': 582.13}, {'connected_gene': 'ENSG00000258653', 'score': 550.77}, {'connected_gene': 'LOC100506476', 'score': 40.83}, {'connected_gene': 'ZNF410', 'score': 11.24}, {'connected_gene': 'PNMA1', 'score': 10.84}, {'connected_gene': 'ENTPD5', 'score': 5.36}, {'connected_gene': 'FAM161B', 'score': 5.36}, {'connected_gene': 'ENSG00000270576', 'score': 0.39}]
chr14 GH14I074013 74013745 74015004 0.8 [{'connected_gene': 'LOC100506476', 'score': 38.78}, {'connected_gene': 'LIN52', 'score': 8.98}, {'connected_gene': 'ENTPD5', 'score': 7.26}, {'connected_gene': 'BBOF1', 'score': 0.77}, {'connected_gene': 'RPL41P4', 'score': 0.39}]
chr14 GH14I073977 73977497 73978607 0.46 [{'connected_gene': 'LOC100506476', 'score': 18.77}, {'connected_gene': 'PTGR2', 'score': 18.32}, {'connected_gene': 'COQ6', 'score': 11.86}, {'connected_gene': 'FAM161B', 'score': 11.86}, {'connected_gene': 'LIN52', 'score': 4.62}, {'connected_gene': 'GC14M073963', 'score': 0.39}, {'connected_gene': 'RPL41P4', 'score': 0.31}, {'connected_gene': 'ENTPD5', 'score': 0.26}]
chr14 GH14I074133 74133589 74135448 1.42 [{'connected_gene': 'GC14P074134', 'score': 550.77}, {'connected_gene': 'LIN52', 'score': 18.95}, {'connected_gene': 'LOC100506476', 'score': 11.1}, {'connected_gene': 'ALDH6A1', 'score': 10.86}, {'connected_gene': 'ENTPD5', 'score': 8.18}, {'connected_gene': 'LOC105370563', 'score': 0.44}]
chr14 GH14I073767 73767602 73775476 1.72 [{'connected_gene': 'ENSG00000258559', 'score': 50.22}, {'connected_gene': 'YLPM1', 'score': 47.91}, {'connected_gene': 'RBM25', 'score': 33.53}, {'connected_gene': 'NT5CP1', 'score': 32.66}, {'connected_gene': 'PNMA1', 'score': 21.3}, {'connected_gene': 'PTGR2', 'score': 16.45}, {'connected_gene': 'LOC100506476', 'score': 15.43}, {'connected_gene': 'LIN52', 'score': 14.46}, {'connected_gene': 'DNAL1', 'score': 12.33}, {'connected_gene': 'ABCD4', 'score': 11.82}, {'connected_gene': 'ENSG00000223300', 'score': 11.03}, {'connected_gene': 'ENSG00000258443', 'score': 10.02}, {'connected_gene': 'FAM161B', 'score': 9.96}, {'connected_gene': 'ELMSAN1', 'score': 8.92}, {'connected_gene': 'LINC02274', 'score': 8.49}, {'connected_gene': 'ACOT1', 'score': 5.12}, {'connected_gene': 'ENTPD5', 'score': 4.46}, {'connected_gene': 'RIOX1', 'score': 3.09}, {'connected_gene': 'ZNF410', 'score': 2.27}, {'connected_gene': 'COQ6', 'score': 1.93}, {'connected_gene': 'GC14M073765', 'score': 0.44}, {'connected_gene': 'MIR4505', 'score': 0.39}]

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