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
ENST00000379672 [[12692855, 12693208], [12798256, 12798296], [12799723, 12799828], [12812213, 12812290], [12819216, 12819328], [12823071, 12823148], [12832245, 12832363], [12844372, 12844441], [12846904, 12846986], [12847385, 12847513], [12852456, 12852568], [12852965, 12853047], [12855817, 12855898], [12859183, 12859297], [12859971, 12860063], [12862033, 12862214], [12876618, 12876636], [12877405, 12877627], [12883374, 12883550], [12887847, 12888225], [12893348, 12894959]] [[12693155, 12693208], [12798256, 12798296], [12799723, 12799828], [12812213, 12812290], [12819216, 12819328], [12823071, 12823148], [12832245, 12832363], [12844372, 12844441], [12846904, 12846986], [12847385, 12847513], [12852456, 12852568], [12852965, 12853047], [12855817, 12855898], [12859183, 12859297], [12859971, 12860063], [12862033, 12862214], [12876618, 12876636], [12877405, 12877627], [12883374, 12883550], [12887847, 12888225], [12893348, 12893488]]
ENST00000340825 [[12692855, 12693208], [12798256, 12798296], [12799723, 12799828], [12812213, 12812290], [12819216, 12819328], [12823071, 12823148], [12832245, 12832363], [12844372, 12844441], [12846904, 12846986], [12847385, 12847513], [12852456, 12852568], [12852965, 12853047], [12855817, 12855898], [12859183, 12859297], [12859971, 12860063], [12862033, 12862214], [12877405, 12877627], [12883374, 12883550], [12887847, 12888225], [12893348, 12894960]] [[12693155, 12693208], [12798256, 12798296], [12799723, 12799828], [12812213, 12812290], [12819216, 12819328], [12823071, 12823148], [12832245, 12832363], [12844372, 12844441], [12846904, 12846986], [12847385, 12847513], [12852456, 12852568], [12852965, 12853047], [12855817, 12855898], [12859183, 12859297], [12859971, 12860063], [12862033, 12862214], [12877405, 12877627], [12883374, 12883550], [12887847, 12888225], [12893348, 12893488]]
ENST00000580768 [[12692856, 12693208], [12798256, 12798296], [12799723, 12799828], [12812213, 12812290], [12819216, 12819328], [12823071, 12823148], [12844372, 12844441], [12846904, 12846986], [12847385, 12847513], [12852456, 12852568], [12852965, 12853047], [12855817, 12855898], [12859183, 12859297], [12859971, 12860063], [12862033, 12862214], [12877405, 12877627], [12883374, 12883550], [12887847, 12888225], [12890417, 12890469], [12893348, 12894959]] [[12693155, 12693208], [12798256, 12798296], [12799723, 12799828], [12812213, 12812290], [12819216, 12819328], [12823071, 12823148], [12844372, 12844441], [12846904, 12846908]]
ENST00000544416 [[12693076, 12693208], [12798256, 12798296], [12799723, 12799828], [12812213, 12812290], [12819216, 12819328], [12823071, 12823148], [12832245, 12832363], [12844372, 12844441], [12846904, 12846986], [12847385, 12847513], [12852456, 12852568], [12852965, 12853047], [12855817, 12855898], [12859183, 12859297], [12859971, 12860063], [12862033, 12862214], [12887847, 12888225], [12893348, 12893901]] [[12693155, 12693208], [12798256, 12798296], [12799723, 12799828], [12812213, 12812290], [12819216, 12819328], [12823071, 12823148], [12832245, 12832363], [12844372, 12844441], [12846904, 12846986], [12847385, 12847513], [12852456, 12852568], [12852965, 12853047], [12855817, 12855898], [12859183, 12859297], [12859971, 12860063], [12862033, 12862214], [12887847, 12888100]]
ENST00000262444 [[12693076, 12693208], [12798256, 12798296], [12799723, 12799828], [12812213, 12812290], [12819216, 12819328], [12823071, 12823148], [12832245, 12832363], [12844372, 12844441], [12846904, 12846986], [12847385, 12847513], [12852456, 12852568], [12852965, 12853047], [12855817, 12855898], [12859183, 12859297], [12859971, 12860063], [12862033, 12862214], [12876618, 12876636], [12877405, 12877627], [12883374, 12883550], [12887847, 12888225], [12890417, 12890469], [12893348, 12893901]] [[12693155, 12693208], [12798256, 12798296], [12799723, 12799828], [12812213, 12812290], [12819216, 12819328], [12823071, 12823148], [12832245, 12832363], [12844372, 12844441], [12846904, 12846986], [12847385, 12847513], [12852456, 12852568], [12852965, 12853047], [12855817, 12855898], [12859183, 12859297], [12859971, 12860063], [12862033, 12862214], [12876618, 12876636], [12877405, 12877627], [12883374, 12883550], [12887847, 12888225], [12890417, 12890425]]
ENST00000578442 [[12693807, 12694062], [12798256, 12798296], [12799723, 12799828], [12812213, 12812290], [12819216, 12819328], [12823071, 12823148], [12832245, 12832698]] None
ENST00000538915 [[12852997, 12853047], [12855817, 12855898], [12859183, 12859297], [12859971, 12860063], [12862033, 12862362]] None
ENST00000583608 [[12859080, 12859297], [12859971, 12860063], [12862033, 12862214], [12876618, 12876636], [12877405, 12877627]] [[12859235, 12859297], [12859971, 12860063], [12862033, 12862214], [12876618, 12876636], [12877405, 12877627]]
ENST00000578087 [[12877028, 12877048], [12877405, 12877627], [12883374, 12883550], [12884223, 12884364]] None
ENST00000581437 [[12883424, 12883550], [12887847, 12888350]] [[12883424, 12883550], [12887847, 12888269]]
ENST00000584974 [[12887805, 12892233]] None
NM_001321168 [[12692828, 12693208], [12798256, 12798296], [12799723, 12799828], [12812213, 12812290], [12819216, 12819328], [12823071, 12823148], [12844372, 12844441], [12846904, 12846986], [12847385, 12847513], [12852456, 12852568], [12852965, 12853047], [12855817, 12855898], [12859183, 12859297], [12859971, 12860063], [12862033, 12862214], [12877405, 12877627], [12883374, 12883550], [12887847, 12888225], [12890417, 12890469], [12893348, 12894961]] [[12844390, 12844441], [12846904, 12846986], [12847385, 12847513], [12852456, 12852568], [12852965, 12853047], [12855817, 12855898], [12859183, 12859297], [12859971, 12860063], [12862033, 12862214], [12877405, 12877627], [12883374, 12883550], [12887847, 12888225], [12890417, 12890425]]
NR_135569 [[12692828, 12693208], [12798256, 12798296], [12799723, 12799828], [12812213, 12812290], [12819216, 12819328], [12823071, 12823148], [12832245, 12832363], [12844372, 12844441], [12846904, 12846986], [12847385, 12847513], [12852456, 12852568], [12852965, 12853047], [12855817, 12855898], [12859183, 12859297], [12859971, 12860063], [12862033, 12862214], [12887847, 12888225], [12893348, 12894961]] None
NM_001321166 [[12692828, 12693208], [12798256, 12798296], [12799723, 12799828], [12812213, 12812290], [12819216, 12819328], [12823071, 12823148], [12832245, 12832363], [12844372, 12844441], [12846904, 12846986], [12847385, 12847513], [12852456, 12852568], [12852965, 12853047], [12855817, 12855898], [12859183, 12859297], [12859971, 12860063], [12862033, 12862214], [12877405, 12877627], [12883374, 12883550], [12887847, 12888225], [12893348, 12894961]] [[12693155, 12693208], [12798256, 12798296], [12799723, 12799828], [12812213, 12812290], [12819216, 12819328], [12823071, 12823148], [12832245, 12832363], [12844372, 12844441], [12846904, 12846986], [12847385, 12847513], [12852456, 12852568], [12852965, 12853047], [12855817, 12855898], [12859183, 12859297], [12859971, 12860063], [12862033, 12862214], [12877405, 12877627], [12883374, 12883550], [12887847, 12888225], [12893348, 12893488]]
NM_001321164 [[12692828, 12693208], [12798256, 12798296], [12799723, 12799828], [12812213, 12812290], [12819216, 12819328], [12823071, 12823148], [12832245, 12832363], [12844372, 12844441], [12846904, 12846986], [12847385, 12847513], [12852456, 12852568], [12852965, 12853047], [12855817, 12855898], [12859183, 12859297], [12859971, 12860063], [12862033, 12862214], [12877405, 12877627], [12883374, 12883550], [12887847, 12888225], [12890417, 12890469], [12893348, 12894961]] [[12693155, 12693208], [12798256, 12798296], [12799723, 12799828], [12812213, 12812290], [12819216, 12819328], [12823071, 12823148], [12832245, 12832363], [12844372, 12844441], [12846904, 12846986], [12847385, 12847513], [12852456, 12852568], [12852965, 12853047], [12855817, 12855898], [12859183, 12859297], [12859971, 12860063], [12862033, 12862214], [12877405, 12877627], [12883374, 12883550], [12887847, 12888225], [12890417, 12890425]]
NM_014859 [[12692828, 12693208], [12798256, 12798296], [12799723, 12799828], [12812213, 12812290], [12819216, 12819328], [12823071, 12823148], [12832245, 12832363], [12844372, 12844441], [12846904, 12846986], [12847385, 12847513], [12852456, 12852568], [12852965, 12853047], [12855817, 12855898], [12859183, 12859297], [12859971, 12860063], [12862033, 12862214], [12876618, 12876636], [12877405, 12877627], [12883374, 12883550], [12887847, 12888225], [12893348, 12894961]] [[12693155, 12693208], [12798256, 12798296], [12799723, 12799828], [12812213, 12812290], [12819216, 12819328], [12823071, 12823148], [12832245, 12832363], [12844372, 12844441], [12846904, 12846986], [12847385, 12847513], [12852456, 12852568], [12852965, 12853047], [12855817, 12855898], [12859183, 12859297], [12859971, 12860063], [12862033, 12862214], [12876618, 12876636], [12877405, 12877627], [12883374, 12883550], [12887847, 12888225], [12893348, 12893488]]
NM_001321167 [[12692828, 12693208], [12798256, 12798296], [12799723, 12799828], [12812213, 12812290], [12819216, 12819328], [12823071, 12823148], [12832245, 12832363], [12844372, 12844441], [12846904, 12846986], [12847385, 12847513], [12852456, 12852568], [12852965, 12853047], [12855817, 12855898], [12859183, 12859297], [12859971, 12860063], [12862033, 12862214], [12876618, 12876636], [12877405, 12877627], [12883374, 12883550], [12887847, 12888225], [12890417, 12890469], [12893348, 12894961]] [[12693155, 12693208], [12798256, 12798296], [12799723, 12799828], [12812213, 12812290], [12819216, 12819328], [12823071, 12823148], [12832245, 12832363], [12844372, 12844441], [12846904, 12846986], [12847385, 12847513], [12852456, 12852568], [12852965, 12853047], [12855817, 12855898], [12859183, 12859297], [12859971, 12860063], [12862033, 12862214], [12876618, 12876636], [12877405, 12877627], [12883374, 12883550], [12887847, 12888225], [12890417, 12890425]]
Promoter
Chrom Start End Description
chr17 12692774 12692863 CAGE_peak_1_at_ARHGAP44_5end
chr17 12693001 12693031 CAGE_peak_2_at_ARHGAP44_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I012745 12745380 12746196 0.2 [{'connected_gene': 'ARHGAP44', 'score': 10.7}, {'connected_gene': 'GC17P012738', 'score': 0.44}, {'connected_gene': 'PIR47070', 'score': 0.37}, {'connected_gene': 'MYOCD', 'score': 0.18}]
chr17 GH17I012893 12893391 12893535 0.22 [{'connected_gene': 'ARHGAP44', 'score': 10.49}, {'connected_gene': 'MIR1269B', 'score': 0.34}, {'connected_gene': 'GC17M012817', 'score': 0.19}]
chr17 GH17I012791 12791001 12791200 0.43 [{'connected_gene': 'ARHGAP44', 'score': 550.77}, {'connected_gene': 'LOC100128006', 'score': 550.77}, {'connected_gene': 'GC17P012798', 'score': 0.44}]
chr17 GH17I012788 12788904 12790613 1.87 [{'connected_gene': 'ARHGAP44', 'score': 550.77}, {'connected_gene': 'LOC100128006', 'score': 550.77}]
chr17 GH17I012721 12721116 12723627 0.31 [{'connected_gene': 'MYOCD', 'score': 10.87}, {'connected_gene': 'ARHGAP44', 'score': 10.38}, {'connected_gene': 'GC17P012717', 'score': 0.44}, {'connected_gene': 'GC17P012738', 'score': 0.37}]
chr17 GH17I013002 13002774 13003432 0.62 [{'connected_gene': 'ELAC2', 'score': 22.87}, {'connected_gene': 'ARHGAP44', 'score': 10.39}, {'connected_gene': 'PIR40121', 'score': 0.77}]
chr17 GH17I012976 12976801 12977808 0.38 [{'connected_gene': 'ELAC2', 'score': 16.97}, {'connected_gene': 'ENSG00000280168', 'score': 0.77}, {'connected_gene': 'ENSG00000277621', 'score': 0.44}, {'connected_gene': 'ARHGAP44', 'score': 0.09}]
chr17 GH17I012741 12741978 12742973 1.07 [{'connected_gene': 'LOC101928418', 'score': 11.18}, {'connected_gene': 'ARHGAP44', 'score': 10.45}, {'connected_gene': 'GC17P012738', 'score': 0.77}, {'connected_gene': 'PIR47070', 'score': 0.34}, {'connected_gene': 'MYOCD', 'score': 0.18}]
chr17 GH17I012743 12743184 12743333 0.4 [{'connected_gene': 'LOC101928418', 'score': 11.18}, {'connected_gene': 'ARHGAP44', 'score': 10.45}, {'connected_gene': 'GC17P012738', 'score': 0.77}, {'connected_gene': 'PIR47070', 'score': 0.34}, {'connected_gene': 'MYOCD', 'score': 0.18}]
chr17 GH17I012982 12982344 12982473 0.59 [{'connected_gene': 'ENSG00000277621', 'score': 550.77}, {'connected_gene': 'ENSG00000280168', 'score': 0.44}, {'connected_gene': 'ARHGAP44', 'score': 0.08}]
chr17 GH17I012815 12815964 12816433 0.95 [{'connected_gene': 'GC17P012817', 'score': 550.77}, {'connected_gene': 'PIR50397', 'score': 0.44}, {'connected_gene': 'ARHGAP44', 'score': 0.31}]
chr17 GH17I012987 12987159 12987623 0.2 [{'connected_gene': 'PIR35917', 'score': 550.77}, {'connected_gene': 'PIR37245', 'score': 550.77}, {'connected_gene': 'GC17P012984', 'score': 0.77}, {'connected_gene': 'ARHGAP44', 'score': 0.08}]
chr17 GH17I012974 12974000 12974401 0.61 [{'connected_gene': 'ENSG00000280168', 'score': 550.77}, {'connected_gene': 'GC17M012972', 'score': 550.77}, {'connected_gene': 'ENSG00000277621', 'score': 0.44}, {'connected_gene': 'ARHGAP44', 'score': 0.09}]
chr17 GH17I012820 12820964 12822115 0.31 [{'connected_gene': 'GC17M012817', 'score': 550.77}, {'connected_gene': 'GC17P012817', 'score': 0.77}, {'connected_gene': 'ARHGAP44', 'score': 0.29}]
chr17 GH17I012983 12983750 12986351 0.88 [{'connected_gene': 'GC17P012984', 'score': 550.77}, {'connected_gene': 'ELAC2', 'score': 20.47}, {'connected_gene': 'PIR37245', 'score': 0.77}, {'connected_gene': 'ARHGAP44', 'score': 0.08}]

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