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
ENST00000536476 [[46741577, 46741675], [46743450, 46743583], [46744548, 46744701], [46746559, 46746688], [46755034, 46755105], [46761147, 46761289], [46762935, 46763045], [46763505, 46763599], [46764504, 46764610], [46766119, 46766580], [46773968, 46774059], [46796951, 46797158]] [[46741615, 46741675], [46743450, 46743583], [46744548, 46744701], [46746559, 46746688], [46755034, 46755105], [46761147, 46761289], [46762935, 46763045], [46763505, 46763599], [46764504, 46764610], [46766119, 46766558]]
ENST00000569810 [[46771949, 46772055], [46773968, 46774059], [46824027, 46824319]] None
ENST00000394809 [[46740890, 46741675], [46743450, 46743583], [46744548, 46744701], [46746559, 46746688], [46755034, 46755105], [46761147, 46761289], [46762935, 46763045], [46763505, 46763599], [46764504, 46764610], [46766119, 46766580], [46771622, 46772055], [46773968, 46774059], [46781628, 46782221]] [[46741615, 46741675], [46743450, 46743583], [46744548, 46744701], [46746559, 46746688], [46755034, 46755105], [46761147, 46761289], [46762935, 46763045], [46763505, 46763599], [46764504, 46764610], [46766119, 46766580], [46771622, 46772055], [46773968, 46774059], [46781628, 46782105]]
ENST00000565182 [[46741579, 46741675], [46743450, 46743583], [46744548, 46744899]] None
ENST00000562104 [[46741603, 46741675], [46743450, 46743583], [46744548, 46744701], [46745498, 46745702]] None
ENST00000564731 [[46759687, 46761289], [46762935, 46763045], [46763505, 46763599], [46764504, 46764610], [46766119, 46766580], [46771622, 46772049]] None
ENST00000569844 [[46761149, 46761289], [46762935, 46763045], [46763505, 46763849]] None
NM_001308301 [[46736193, 46741675], [46743450, 46743583], [46744548, 46744701], [46746559, 46746688], [46755034, 46755105], [46761147, 46761289], [46762935, 46763045], [46763505, 46763599], [46764504, 46764610], [46766119, 46766580], [46773968, 46774059], [46796951, 46797158]] [[46741615, 46741675], [46743450, 46743583], [46744548, 46744701], [46746559, 46746688], [46755034, 46755105], [46761147, 46761289], [46762935, 46763045], [46763505, 46763599], [46764504, 46764610], [46766119, 46766558]]
NM_182493 [[46736193, 46741675], [46743450, 46743583], [46744548, 46744701], [46746559, 46746688], [46755034, 46755105], [46761147, 46761289], [46762935, 46763045], [46763505, 46763599], [46764504, 46764610], [46766119, 46766580], [46771622, 46772055], [46773968, 46774059], [46781628, 46782221]] [[46741615, 46741675], [46743450, 46743583], [46744548, 46744701], [46746559, 46746688], [46755034, 46755105], [46761147, 46761289], [46762935, 46763045], [46763505, 46763599], [46764504, 46764610], [46766119, 46766580], [46771622, 46772055], [46773968, 46774059], [46781628, 46782105]]
Promoter
Chrom Start End Description
chr16 46772043 46772059 CAGE_peak_6_at_MYLK3_5end
chr16 46782248 46782263 CAGE_peak_1_at_MYLK3_5end
chr16 46797007 46797016 CAGE_peak_7_at_MYLK3_5end
chr16 46797054 46797069 CAGE_peak_4_at_MYLK3_5end
chr16 46797107 46797118 CAGE_peak_3_at_MYLK3_5end
chr16 46797139 46797146 CAGE_peak_5_at_MYLK3_5end
chr16 46797149 46797169 CAGE_peak_2_at_MYLK3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I046863 46863437 46863938 0.46 [{'connected_gene': 'MYLK3', 'score': 10.24}, {'connected_gene': 'ENSG00000261725', 'score': 0.39}, {'connected_gene': 'GPT2', 'score': 0.34}]
chr16 GH16I046746 46746478 46750226 1.76 [{'connected_gene': 'MYLK3', 'score': 566.38}, {'connected_gene': 'SHCBP1', 'score': 13.34}, {'connected_gene': 'ORC6', 'score': 11.25}, {'connected_gene': 'VPS35', 'score': 11.25}, {'connected_gene': 'GPT2', 'score': 3.82}, {'connected_gene': 'GC16M046768', 'score': 0.31}, {'connected_gene': 'GC16P046705', 'score': 0.26}]
chr16 GH16I046742 46742421 46744078 1.49 [{'connected_gene': 'MYLK3', 'score': 33.17}, {'connected_gene': 'ENSG00000261131', 'score': 12.53}, {'connected_gene': 'SHCBP1', 'score': 12.48}, {'connected_gene': 'GC16M046768', 'score': 0.29}, {'connected_gene': 'GC16P046705', 'score': 0.28}]
chr16 GH16I046735 46735361 46738937 0.38 [{'connected_gene': 'MYLK3', 'score': 12.11}, {'connected_gene': 'ORC6', 'score': 11.52}, {'connected_gene': 'VPS35', 'score': 11.52}, {'connected_gene': 'SHCBP1', 'score': 11.3}, {'connected_gene': 'GPT2', 'score': 3.81}, {'connected_gene': 'GC16P046705', 'score': 0.29}, {'connected_gene': 'GC16M046768', 'score': 0.28}]
chr16 GH16I046711 46711201 46711800 0.92 [{'connected_gene': 'MYLK3', 'score': 11.96}, {'connected_gene': 'ORC6', 'score': 11.52}, {'connected_gene': 'VPS35', 'score': 11.52}, {'connected_gene': 'GC16P046705', 'score': 0.44}, {'connected_gene': 'GC16M046768', 'score': 0.21}]
chr16 GH16I046710 46710514 46711065 0.2 [{'connected_gene': 'MYLK3', 'score': 11.96}, {'connected_gene': 'ORC6', 'score': 11.52}, {'connected_gene': 'VPS35', 'score': 11.52}, {'connected_gene': 'GC16P046705', 'score': 0.44}, {'connected_gene': 'GC16M046768', 'score': 0.21}]
chr16 GH16I046758 46758457 46758565 0.69 [{'connected_gene': 'MYLK3', 'score': 24.46}, {'connected_gene': 'GC16M046768', 'score': 0.37}, {'connected_gene': 'GC16P046705', 'score': 0.23}]
chr16 GH16I046741 46740189 46740338 0.94 [{'connected_gene': 'MYLK3', 'score': 12.08}, {'connected_gene': 'GC16M046768', 'score': 0.29}, {'connected_gene': 'GC16P046705', 'score': 0.28}]
chr16 GH16I046862 46862715 46863216 0.74 [{'connected_gene': 'GPT2', 'score': 12.02}, {'connected_gene': 'MYLK3', 'score': 10.24}, {'connected_gene': 'ENSG00000261725', 'score': 0.39}]
chr16 GH16I046836 46836801 46837400 0.46 [{'connected_gene': 'GPT2', 'score': 11.47}, {'connected_gene': 'ORC6', 'score': 11.11}, {'connected_gene': 'VPS35', 'score': 11.11}, {'connected_gene': 'MYLK3', 'score': 10.6}, {'connected_gene': 'C16orf87', 'score': 0.44}, {'connected_gene': 'CKBP1', 'score': 0.44}]
chr16 GH16I046864 46863976 46865111 1.31 [{'connected_gene': 'SHCBP1', 'score': 12.34}, {'connected_gene': 'MYLK3', 'score': 10.24}, {'connected_gene': 'ENSG00000261725', 'score': 0.39}, {'connected_gene': 'GPT2', 'score': 0.37}]
chr16 GH16I046727 46727729 46734556 0.38 [{'connected_gene': 'SHCBP1', 'score': 12.95}, {'connected_gene': 'MYLK3', 'score': 12.1}, {'connected_gene': 'ORC6', 'score': 11.54}, {'connected_gene': 'VPS35', 'score': 11.54}, {'connected_gene': 'ANKRD26P1', 'score': 5.55}, {'connected_gene': 'C16orf87', 'score': 4.23}, {'connected_gene': 'GC16P046705', 'score': 0.31}, {'connected_gene': 'GC16M046768', 'score': 0.26}]
chr16 GH16I046740 46740547 46742067 0.56 [{'connected_gene': 'SHCBP1', 'score': 12.94}, {'connected_gene': 'MYLK3', 'score': 12.54}, {'connected_gene': 'GC16M046768', 'score': 0.29}, {'connected_gene': 'GC16P046705', 'score': 0.28}]
chr16 GH16I046726 46726835 46727648 0.2 [{'connected_gene': 'SHCBP1', 'score': 11.31}, {'connected_gene': 'GC16P046705', 'score': 0.34}, {'connected_gene': 'GC16M046768', 'score': 0.25}, {'connected_gene': 'MYLK3', 'score': 0.21}]
chr16 GH16I046754 46754370 46755988 0.31 [{'connected_gene': 'SHCBP1', 'score': 13.36}, {'connected_gene': 'GC16M046768', 'score': 0.37}, {'connected_gene': 'MYLK3', 'score': 0.28}, {'connected_gene': 'GC16P046705', 'score': 0.23}]
chr16 GH16I046716 46716490 46718222 0.31 [{'connected_gene': 'SHCBP1', 'score': 12.36}, {'connected_gene': 'GC16P046705', 'score': 0.39}, {'connected_gene': 'GC16M046768', 'score': 0.22}, {'connected_gene': 'MYLK3', 'score': 0.19}]
chr16 GH16I046745 46745590 46746299 0.43 [{'connected_gene': 'SHCBP1', 'score': 12.12}, {'connected_gene': 'GPT2', 'score': 3.81}, {'connected_gene': 'GC16M046768', 'score': 0.31}, {'connected_gene': 'MYLK3', 'score': 0.26}, {'connected_gene': 'GC16P046705', 'score': 0.26}]
chr16 GH16I046751 46751259 46754116 0.49 [{'connected_gene': 'SHCBP1', 'score': 11.66}, {'connected_gene': 'GPT2', 'score': 4.71}, {'connected_gene': 'GC16M046768', 'score': 0.34}, {'connected_gene': 'MYLK3', 'score': 0.28}, {'connected_gene': 'GC16P046705', 'score': 0.25}]
chr16 GH16I046756 46756546 46758278 1.16 [{'connected_gene': 'SHCBP1', 'score': 14.0}, {'connected_gene': 'C16orf87', 'score': 6.53}, {'connected_gene': 'ORC6', 'score': 3.09}, {'connected_gene': 'GC16M046768', 'score': 0.37}, {'connected_gene': 'MYLK3', 'score': 0.29}, {'connected_gene': 'GC16P046705', 'score': 0.23}]
chr16 GH16I046761 46761702 46764852 0.52 [{'connected_gene': 'SHCBP1', 'score': 13.77}, {'connected_gene': 'ANKRD26P1', 'score': 4.5}, {'connected_gene': 'GC16M046768', 'score': 0.39}, {'connected_gene': 'MYLK3', 'score': 0.31}, {'connected_gene': 'GC16P046705', 'score': 0.22}]
chr16 GH16I046784 46784089 46788658 0.63 [{'connected_gene': 'SHCBP1', 'score': 14.78}, {'connected_gene': 'LOC100130180', 'score': 0.77}, {'connected_gene': 'MYLK3', 'score': 0.77}, {'connected_gene': 'GC16M046768', 'score': 0.39}]
chr16 GH16I046686 46686163 46691941 2.06 [{'connected_gene': 'ORC6', 'score': 550.77}, {'connected_gene': 'VPS35', 'score': 550.77}, {'connected_gene': 'GPT2', 'score': 13.88}, {'connected_gene': 'SHCBP1', 'score': 12.64}, {'connected_gene': 'ENSG00000261131', 'score': 12.39}, {'connected_gene': 'MYLK3', 'score': 10.89}, {'connected_gene': 'ANKRD26P1', 'score': 5.78}, {'connected_gene': 'ENSG00000280376', 'score': 0.37}]
chr16 GH16I046715 46715222 46716369 0.43 [{'connected_gene': 'ANKRD26P1', 'score': 5.65}, {'connected_gene': 'GC16P046705', 'score': 0.39}, {'connected_gene': 'GC16M046768', 'score': 0.22}, {'connected_gene': 'MYLK3', 'score': 0.19}]
chr16 GH16I046843 46843923 46845162 0.38 [{'connected_gene': 'CKBP1', 'score': 550.77}, {'connected_gene': 'GPT2', 'score': 12.1}, {'connected_gene': 'ORC6', 'score': 11.23}, {'connected_gene': 'VPS35', 'score': 11.23}, {'connected_gene': 'MYLK3', 'score': 10.91}, {'connected_gene': 'C16orf87', 'score': 0.39}]
chr16 GH16I046788 46788993 46791076 1.75 [{'connected_gene': 'LOC100130180', 'score': 550.77}, {'connected_gene': 'MYLK3', 'score': 550.77}, {'connected_gene': 'SHCBP1', 'score': 14.75}]
chr16 GH16I046759 46759844 46761264 0.31 [{'connected_gene': 'GC16M046768', 'score': 0.39}, {'connected_gene': 'MYLK3', 'score': 0.31}, {'connected_gene': 'GC16P046705', 'score': 0.22}]
chr16 GH16I046649 46649174 46651087 1.1 [{'connected_gene': 'ENSG00000260909', 'score': 550.77}, {'connected_gene': 'PIR53331', 'score': 550.77}, {'connected_gene': 'MYLK3', 'score': 10.54}]
chr16 GH16I046713 46713201 46713400 0.51 [{'connected_gene': 'GC16P046705', 'score': 0.44}, {'connected_gene': 'GC16M046768', 'score': 0.21}, {'connected_gene': 'MYLK3', 'score': 0.18}]
chr16 GH16I046712 46712601 46713000 0.51 [{'connected_gene': 'GC16P046705', 'score': 0.44}, {'connected_gene': 'GC16M046768', 'score': 0.21}, {'connected_gene': 'MYLK3', 'score': 0.18}]
chr16 GH16I046714 46714231 46715200 0.49 [{'connected_gene': 'GC16P046705', 'score': 0.44}, {'connected_gene': 'GC16M046768', 'score': 0.22}, {'connected_gene': 'MYLK3', 'score': 0.18}]
chr16 GH16I046695 46695807 46698128 0.43 [{'connected_gene': 'PIR35721', 'score': 550.77}, {'connected_gene': 'GPT2', 'score': 13.29}, {'connected_gene': 'MYLK3', 'score': 10.81}, {'connected_gene': 'ORC6', 'score': 0.44}]