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
ENST00000359204 [[95427639, 95429625], [95430526, 95430605], [95436409, 95436448], [95441236, 95441355], [95443812, 95443855], [95445002, 95445116], [95447160, 95447206], [95451765, 95451850], [95452402, 95452486], [95454617, 95454694], [95457892, 95457938], [95458057, 95458153], [95459786, 95459863], [95462131, 95462329]] [[95429582, 95429625], [95430526, 95430605], [95436409, 95436448], [95441236, 95441355], [95443812, 95443855], [95445002, 95445116], [95447160, 95447206], [95451765, 95451850], [95452402, 95452486], [95454617, 95454694], [95457892, 95457938], [95458057, 95458153], [95459786, 95459863]]
ENST00000460752 [[95429380, 95429625], [95430526, 95435061]] None
ENST00000536233 [[95429380, 95429625], [95430526, 95430605], [95431798, 95431846], [95436409, 95436448], [95441236, 95441355], [95443812, 95443855], [95445002, 95445116], [95447160, 95447206], [95451765, 95451850], [95452402, 95452486], [95454617, 95454694], [95457892, 95457938], [95458057, 95458153], [95459786, 95459863], [95462131, 95462325]] [[95431841, 95431846], [95436409, 95436448], [95441236, 95441355], [95443812, 95443855], [95445002, 95445116], [95447160, 95447206], [95451765, 95451850], [95452402, 95452486], [95454617, 95454694], [95457892, 95457938], [95458057, 95458153], [95459786, 95459863]]
ENST00000483229 [[95429435, 95429625], [95430526, 95430605], [95431582, 95431661], [95431798, 95431848]] None
ENST00000462771 [[95430531, 95430605], [95431798, 95432788]] None
ENST00000371430 [[95431810, 95431846], [95435378, 95435458], [95436409, 95436448], [95441236, 95441355], [95443812, 95443855], [95445002, 95445116], [95447160, 95447206], [95451765, 95451850], [95452402, 95452486], [95454617, 95454694], [95457892, 95457938], [95458057, 95458153], [95459786, 95459863], [95462131, 95462329]] [[95431810, 95431846], [95435378, 95435458], [95436409, 95436448], [95441236, 95441355], [95443812, 95443855], [95445002, 95445116], [95447160, 95447206], [95451765, 95451850], [95452402, 95452486], [95454617, 95454694], [95457892, 95457938], [95458057, 95458153], [95459786, 95459863]]
ENST00000394100 [[95433513, 95433566], [95436409, 95436448], [95441236, 95441355], [95443812, 95443855], [95445002, 95445116], [95447160, 95447206], [95451765, 95451850], [95452402, 95452486], [95454617, 95454694], [95457892, 95457938], [95458057, 95458153], [95459786, 95459863], [95462131, 95462329]] [[95433513, 95433566], [95436409, 95436448], [95441236, 95441355], [95443812, 95443855], [95445002, 95445116], [95447160, 95447206], [95451765, 95451850], [95452402, 95452486], [95454617, 95454694], [95457892, 95457938], [95458057, 95458153], [95459786, 95459863]]
ENST00000472153 [[95443811, 95443855], [95445002, 95445220]] None
ENST00000482719 [[95445009, 95445116], [95447160, 95447698]] None
NM_001347712 [[95427639, 95429625], [95430526, 95430605], [95436409, 95436448], [95441236, 95441355], [95443812, 95443855], [95445002, 95445116], [95447160, 95447206], [95451765, 95451850], [95452402, 95452486], [95454617, 95454694], [95457892, 95457938], [95458057, 95458153], [95459786, 95459863], [95461930, 95462329]] [[95429582, 95429625], [95430526, 95430605], [95436409, 95436448], [95441236, 95441355], [95443812, 95443855], [95445002, 95445116], [95447160, 95447206], [95451765, 95451850], [95452402, 95452486], [95454617, 95454694], [95457892, 95457938], [95458057, 95458153], [95459786, 95459863]]
NM_001347713 [[95427639, 95429625], [95430526, 95430605], [95436409, 95436448], [95441236, 95441355], [95443812, 95443855], [95445002, 95445116], [95447160, 95447206], [95451765, 95451850], [95452402, 95452486], [95454617, 95454694], [95457892, 95457938], [95458057, 95458153], [95459786, 95459863], [95461432, 95461552], [95462131, 95462329]] [[95429582, 95429625], [95430526, 95430605], [95436409, 95436448], [95441236, 95441355], [95443812, 95443855], [95445002, 95445116], [95447160, 95447206], [95451765, 95451850], [95452402, 95452486], [95454617, 95454694], [95457892, 95457938], [95458057, 95458153], [95459786, 95459863]]
NM_001347715 [[95427639, 95429625], [95430526, 95430605], [95436409, 95436448], [95441236, 95441355], [95443812, 95443855], [95445002, 95445116], [95447160, 95447206], [95451765, 95451850], [95452402, 95452486], [95454617, 95454694], [95457892, 95457938], [95458057, 95458153], [95459786, 95459863], [95461475, 95461552], [95462131, 95462329]] [[95429582, 95429625], [95430526, 95430605], [95436409, 95436448], [95441236, 95441355], [95443812, 95443855], [95445002, 95445116], [95447160, 95447206], [95451765, 95451850], [95452402, 95452486], [95454617, 95454694], [95457892, 95457938], [95458057, 95458153], [95459786, 95459863]]
NM_145246 [[95427639, 95429625], [95430526, 95430605], [95436409, 95436448], [95441236, 95441355], [95443812, 95443855], [95445002, 95445116], [95447160, 95447206], [95451765, 95451850], [95452402, 95452486], [95454617, 95454694], [95457892, 95457938], [95458057, 95458153], [95459786, 95459863], [95462131, 95462329]] [[95429582, 95429625], [95430526, 95430605], [95436409, 95436448], [95441236, 95441355], [95443812, 95443855], [95445002, 95445116], [95447160, 95447206], [95451765, 95451850], [95452402, 95452486], [95454617, 95454694], [95457892, 95457938], [95458057, 95458153], [95459786, 95459863]]
NR_144635 [[95427639, 95429625], [95430526, 95430605], [95436409, 95436448], [95441236, 95441355], [95443812, 95443855], [95445002, 95445116], [95447160, 95447206], [95452402, 95452486], [95454617, 95454694], [95457892, 95457938], [95458057, 95458153], [95459786, 95459863], [95462131, 95462329]] None
NM_001347714 [[95427639, 95429625], [95430526, 95430605], [95436409, 95436448], [95441236, 95441355], [95443812, 95443855], [95445002, 95445116], [95447160, 95447206], [95451765, 95451850], [95452402, 95452486], [95454617, 95454694], [95457892, 95457938], [95458057, 95458153], [95459786, 95459863], [95462405, 95462716]] [[95429582, 95429625], [95430526, 95430605], [95436409, 95436448], [95441236, 95441355], [95443812, 95443855], [95445002, 95445116], [95447160, 95447206], [95451765, 95451850], [95452402, 95452486], [95454617, 95454694], [95457892, 95457938], [95458057, 95458153], [95459786, 95459863]]
Promoter
Chrom Start End Description
chr10 95462156 95462167 CAGE_peak_2_at_FRA10AC1_5end
chr10 95462265 95462378 CAGE_peak_1_at_FRA10AC1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I093753 93753695 93754101 0.66 [{'connected_gene': 'LGI1', 'score': 4.05}, {'connected_gene': 'FRA10AC1', 'score': 1.36}, {'connected_gene': 'LOC101927013', 'score': 0.77}, {'connected_gene': 'GC10P093720', 'score': 0.29}]
chr10 GH10I094361 94361242 94363573 2.08 [{'connected_gene': 'NOC3L', 'score': 578.21}, {'connected_gene': 'PIR55864', 'score': 550.77}, {'connected_gene': 'ENSG00000273450', 'score': 30.67}, {'connected_gene': 'FRA10AC1', 'score': 14.79}, {'connected_gene': 'PDE6C', 'score': 13.89}, {'connected_gene': 'PIPSL', 'score': 11.87}, {'connected_gene': 'PLCE1-AS1', 'score': 9.92}, {'connected_gene': 'PLCE1', 'score': 5.42}]
chr10 GH10I092838 92838081 92840563 1.29 [{'connected_gene': 'PDE6C', 'score': 20.6}, {'connected_gene': 'FRA10AC1', 'score': 14.79}, {'connected_gene': 'RPL17P34', 'score': 10.37}, {'connected_gene': 'BTAF1', 'score': 9.89}, {'connected_gene': 'MARK2P9', 'score': 4.15}, {'connected_gene': 'EXOC6', 'score': 0.77}, {'connected_gene': 'ENSG00000225118', 'score': 0.28}]
chr10 GH10I093615 93615401 93616400 0.31 [{'connected_gene': 'PDE6C', 'score': 0.77}, {'connected_gene': 'GC10P093599', 'score': 0.37}, {'connected_gene': 'FRA10AC1', 'score': 0.17}]
chr10 GH10I093701 93701338 93703626 2.14 [{'connected_gene': 'FRA10AC1', 'score': 625.13}, {'connected_gene': 'RPL17P34', 'score': 85.97}, {'connected_gene': 'NOC3L', 'score': 82.21}, {'connected_gene': 'PDE6C', 'score': 74.44}, {'connected_gene': 'ENSG00000273450', 'score': 31.65}, {'connected_gene': 'MYOF', 'score': 12.54}, {'connected_gene': 'HELLS', 'score': 10.7}]
chr10 GH10I093541 93541958 93543193 1.01 [{'connected_gene': 'FRA10AC1', 'score': 12.17}, {'connected_gene': 'RPL17P34', 'score': 10.4}, {'connected_gene': 'HELLS', 'score': 10.21}, {'connected_gene': 'RBP4', 'score': 5.57}, {'connected_gene': 'GC10M093549', 'score': 0.44}, {'connected_gene': 'RNA5SP323', 'score': 0.29}, {'connected_gene': 'GC10M093511', 'score': 0.29}]
chr10 GH10I093752 93752844 93753093 0.62 [{'connected_gene': 'FRA10AC1', 'score': 27.28}, {'connected_gene': 'PDE6C', 'score': 10.18}, {'connected_gene': 'LOC101927013', 'score': 0.77}, {'connected_gene': 'GC10P093720', 'score': 0.29}]
chr10 GH10I093748 93748364 93750218 0.96 [{'connected_gene': 'FRA10AC1', 'score': 25.19}, {'connected_gene': 'LOC101927013', 'score': 0.44}, {'connected_gene': 'GC10P093720', 'score': 0.31}]
chr10 GH10I093745 93745544 93745693 0.49 [{'connected_gene': 'FRA10AC1', 'score': 7.98}, {'connected_gene': 'LOC101927013', 'score': 0.39}, {'connected_gene': 'GC10P093720', 'score': 0.34}]
chr10 GH10I093742 93742601 93743400 0.66 [{'connected_gene': 'FRA10AC1', 'score': 6.23}, {'connected_gene': 'LOC101927013', 'score': 0.39}, {'connected_gene': 'GC10P093720', 'score': 0.34}]
chr10 GH10I093750 93750642 93751898 0.64 [{'connected_gene': 'FRA10AC1', 'score': 25.08}, {'connected_gene': 'LOC101927013', 'score': 0.44}, {'connected_gene': 'GC10P093720', 'score': 0.29}]
chr10 GH10I093754 93752001 93752400 0.65 [{'connected_gene': 'FRA10AC1', 'score': 19.84}, {'connected_gene': 'LOC101927013', 'score': 0.44}, {'connected_gene': 'GC10P093720', 'score': 0.29}]
chr10 GH10I093746 93746524 93748094 1.04 [{'connected_gene': 'FRA10AC1', 'score': 7.79}, {'connected_gene': 'LOC101927013', 'score': 0.39}, {'connected_gene': 'GC10P093720', 'score': 0.31}]
chr10 GH10I093715 93715445 93715644 0.98 [{'connected_gene': 'FRA10AC1', 'score': 9.33}, {'connected_gene': 'GC10P093720', 'score': 0.44}]