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
ENST00000354960 [[120415549, 120419893], [120422324, 120422408], [120423735, 120423810], [120425690, 120425754], [120427009, 120427087], [120428758, 120428859], [120432201, 120432289], [120440199, 120440294], [120442089, 120442215], [120446703, 120446850], [120460114, 120460174], [120463613, 120463789], [120473704, 120473792], [120474792, 120474901], [120481450, 120481518], [120483987, 120484125], [120486475, 120486565], [120488227, 120488299], [120517677, 120517767], [120527863, 120528452], [120549674, 120550146]] [[120419755, 120419893], [120422324, 120422408], [120423735, 120423810], [120425690, 120425754], [120427009, 120427087], [120428758, 120428859], [120432201, 120432289], [120440199, 120440294], [120442089, 120442215], [120446703, 120446850], [120460114, 120460174], [120463613, 120463789], [120473704, 120473792], [120474792, 120474901], [120481450, 120481518], [120483987, 120484125], [120486475, 120486565], [120488227, 120488299], [120517677, 120517767], [120527863, 120528452], [120549674, 120549826]]
ENST00000394439 [[120415551, 120419893], [120422324, 120422408], [120423735, 120423810], [120425690, 120425754], [120427009, 120427087], [120428758, 120428859], [120432201, 120432289], [120440199, 120440294], [120442089, 120442215], [120446703, 120446850], [120460114, 120460174], [120463613, 120463789], [120473704, 120473792], [120474792, 120474901], [120481450, 120481518], [120483987, 120484125], [120486475, 120486565], [120488227, 120488299], [120517677, 120517767], [120527863, 120528452], [120549149, 120549202]] [[120419755, 120419893], [120422324, 120422408], [120423735, 120423810], [120425690, 120425754], [120427009, 120427087], [120428758, 120428859], [120432201, 120432289], [120440199, 120440294], [120442089, 120442215], [120446703, 120446850], [120460114, 120460174], [120463613, 120463789], [120473704, 120473792], [120474792, 120474901], [120481450, 120481518], [120483987, 120484125], [120486475, 120486565], [120488227, 120488299], [120517677, 120517767], [120527863, 120528448]]
ENST00000264805 [[120419695, 120419893], [120422324, 120422408], [120423735, 120423810], [120425690, 120425754], [120427009, 120427087], [120428758, 120428859], [120432201, 120432289], [120440199, 120440294], [120442089, 120442215], [120446703, 120446850], [120460114, 120460174], [120463613, 120463789], [120473704, 120473792], [120474792, 120474901], [120481450, 120481518], [120483987, 120484125], [120486475, 120486565], [120488227, 120488299], [120517677, 120517767], [120527863, 120528452], [120548304, 120548788]] [[120419755, 120419893], [120422324, 120422408], [120423735, 120423810], [120425690, 120425754], [120427009, 120427087], [120428758, 120428859], [120432201, 120432289], [120440199, 120440294], [120442089, 120442215], [120446703, 120446850], [120460114, 120460174], [120463613, 120463789], [120473704, 120473792], [120474792, 120474901], [120481450, 120481518], [120483987, 120484125], [120486475, 120486565], [120488227, 120488299], [120517677, 120517767], [120527863, 120528452], [120548304, 120548330]]
ENST00000513594 [[120438214, 120438279], [120440199, 120440294], [120442089, 120442215], [120446703, 120446850], [120460114, 120460253]] None
ENST00000512739 [[120442154, 120442215], [120446703, 120446850], [120460114, 120460174], [120463613, 120463789], [120464248, 120464452]] None
ENST00000503412 [[120421977, 120422408], [120423735, 120423810], [120425690, 120425754], [120427009, 120427087], [120428758, 120428859], [120432201, 120432289], [120440199, 120440254]] [[120422312, 120422408], [120423735, 120423810], [120425690, 120425754], [120427009, 120427087], [120428758, 120428859], [120432201, 120432289], [120440199, 120440254]]
ENST00000512494 [[120423544, 120423810], [120425690, 120425754], [120427009, 120427090]] None
ENST00000509612 [[120428807, 120428859], [120432201, 120432289], [120440199, 120440797]] None
ENST00000512450 [[120440233, 120440294], [120442089, 120442215], [120446703, 120446850], [120448198, 120448431]] None
ENST00000502912 [[120459935, 120459997], [120460114, 120460174], [120462908, 120463157]] None
ENST00000508914 [[120473595, 120473792], [120474792, 120474901], [120481450, 120481518], [120483987, 120484127]] None
ENST00000420633 [[120517680, 120517767], [120527863, 120528452], [120549149, 120549220]] [[120517680, 120517767], [120527863, 120528448]]
NM_033430 [[120415549, 120419893], [120422324, 120422408], [120423735, 120423810], [120425690, 120425754], [120427009, 120427087], [120428758, 120428859], [120432201, 120432289], [120440199, 120440294], [120442089, 120442215], [120446703, 120446850], [120460114, 120460174], [120463613, 120463789], [120473704, 120473792], [120474792, 120474901], [120481450, 120481518], [120483987, 120484125], [120486475, 120486565], [120488227, 120488299], [120517677, 120517767], [120527863, 120528452], [120548304, 120548442]] [[120419755, 120419893], [120422324, 120422408], [120423735, 120423810], [120425690, 120425754], [120427009, 120427087], [120428758, 120428859], [120432201, 120432289], [120440199, 120440294], [120442089, 120442215], [120446703, 120446850], [120460114, 120460174], [120463613, 120463789], [120473704, 120473792], [120474792, 120474901], [120481450, 120481518], [120483987, 120484125], [120486475, 120486565], [120488227, 120488299], [120517677, 120517767], [120527863, 120528452], [120548304, 120548330]]
NM_033437 [[120415549, 120419893], [120422324, 120422408], [120423735, 120423810], [120425690, 120425754], [120427009, 120427087], [120428758, 120428859], [120432201, 120432289], [120440199, 120440294], [120442089, 120442215], [120446703, 120446850], [120460114, 120460174], [120463613, 120463789], [120473704, 120473792], [120474792, 120474901], [120481450, 120481518], [120483987, 120484125], [120486475, 120486565], [120488227, 120488299], [120517677, 120517767], [120527863, 120528452], [120549149, 120549239]] [[120419755, 120419893], [120422324, 120422408], [120423735, 120423810], [120425690, 120425754], [120427009, 120427087], [120428758, 120428859], [120432201, 120432289], [120440199, 120440294], [120442089, 120442215], [120446703, 120446850], [120460114, 120460174], [120463613, 120463789], [120473704, 120473792], [120474792, 120474901], [120481450, 120481518], [120483987, 120484125], [120486475, 120486565], [120488227, 120488299], [120517677, 120517767], [120527863, 120528448]]
NM_001083 [[120415549, 120419893], [120422324, 120422408], [120423735, 120423810], [120425690, 120425754], [120427009, 120427087], [120428758, 120428859], [120432201, 120432289], [120440199, 120440294], [120442089, 120442215], [120446703, 120446850], [120460114, 120460174], [120463613, 120463789], [120473704, 120473792], [120474792, 120474901], [120481450, 120481518], [120483987, 120484125], [120486475, 120486565], [120488227, 120488299], [120517677, 120517767], [120527863, 120528452], [120549674, 120549981]] [[120419755, 120419893], [120422324, 120422408], [120423735, 120423810], [120425690, 120425754], [120427009, 120427087], [120428758, 120428859], [120432201, 120432289], [120440199, 120440294], [120442089, 120442215], [120446703, 120446850], [120460114, 120460174], [120463613, 120463789], [120473704, 120473792], [120474792, 120474901], [120481450, 120481518], [120483987, 120484125], [120486475, 120486565], [120488227, 120488299], [120517677, 120517767], [120527863, 120528452], [120549674, 120549826]]
Promoter
Chrom Start End Description
chr4 120548405 120548466 CAGE_peak_3_at_PDE5A_5end
chr4 120548779 120548825 CAGE_peak_8_at_PDE5A_5end
chr4 120548828 120548836 CAGE_peak_17_at_PDE5A_5end
chr4 120548851 120548873 CAGE_peak_7_at_PDE5A_5end
chr4 120548878 120548899 CAGE_peak_9_at_PDE5A_5end
chr4 120549047 120549058 CAGE_peak_18_at_PDE5A_5end
chr4 120549072 120549101 CAGE_peak_6_at_PDE5A_5end
chr4 120549103 120549131 CAGE_peak_10_at_PDE5A_5end
chr4 120549163 120549215 CAGE_peak_5_at_PDE5A_5end
chr4 120549834 120549846 CAGE_peak_15_at_PDE5A_5end
chr4 120549851 120549880 CAGE_peak_1_at_PDE5A_5end
chr4 120549895 120549908 CAGE_peak_12_at_PDE5A_5end
chr4 120549931 120549938 CAGE_peak_21_at_PDE5A_5end
chr4 120549947 120549969 CAGE_peak_2_at_PDE5A_5end
chr4 120550160 120550201 CAGE_peak_4_at_PDE5A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I119681 119681274 119685228 0.71 [{'connected_gene': 'PDE5A', 'score': 10.69}, {'connected_gene': 'LOC645513', 'score': 6.79}, {'connected_gene': 'LOC105377397', 'score': 0.44}]
chr4 GH04I119511 119511439 119511573 0.22 [{'connected_gene': 'PDE5A', 'score': 1.99}, {'connected_gene': 'ENSG00000250950', 'score': 0.22}, {'connected_gene': 'LOC645513', 'score': 0.22}, {'connected_gene': 'GC04P119579', 'score': 0.22}]
chr4 GH04I119646 119646265 119647305 0.38 [{'connected_gene': 'PDE5A', 'score': 0.37}, {'connected_gene': 'LOC105377397', 'score': 0.26}]
chr4 GH04I119654 119653086 119653275 0.31 [{'connected_gene': 'PDE5A', 'score': 0.34}, {'connected_gene': 'LOC105377397', 'score': 0.28}]
chr4 GH04I120006 120006945 120009195 0.96 [{'connected_gene': 'PDE5A', 'score': 6.32}, {'connected_gene': 'GC04P120002', 'score': 0.44}, {'connected_gene': 'ENSG00000253825', 'score': 0.29}]
chr4 GH04I119555 119555204 119555271 0.22 [{'connected_gene': 'PDE5A', 'score': 1.57}, {'connected_gene': 'GC04P119579', 'score': 0.39}, {'connected_gene': 'ENSG00000250950', 'score': 0.15}]
chr4 GH04I119733 119733257 119736734 0.92 [{'connected_gene': 'LOC645513', 'score': 18.26}, {'connected_gene': 'PDE5A', 'score': 4.25}, {'connected_gene': 'LOC105377397', 'score': 0.25}, {'connected_gene': 'LINC01365', 'score': 0.2}]
chr4 GH04I119537 119537665 119538125 0.42 [{'connected_gene': 'LOC645513', 'score': 56.76}, {'connected_gene': 'ENSG00000221245', 'score': 11.23}, {'connected_gene': 'PDE5A', 'score': 6.03}, {'connected_gene': 'GC04P119579', 'score': 0.29}, {'connected_gene': 'ENSG00000250950', 'score': 0.18}]
chr4 GH04I119521 119521090 119522106 0.38 [{'connected_gene': 'LOC645513', 'score': 56.79}, {'connected_gene': 'ENSG00000260091', 'score': 5.89}, {'connected_gene': 'GC04P119579', 'score': 0.25}, {'connected_gene': 'ENSG00000250950', 'score': 0.2}, {'connected_gene': 'PDE5A', 'score': 0.14}]
chr4 GH04I119516 119516838 119519285 1.1 [{'connected_gene': 'LOC645513', 'score': 20.44}, {'connected_gene': 'KLHL2P1', 'score': 5.9}, {'connected_gene': 'PDE5A', 'score': 1.63}, {'connected_gene': 'GC04P119579', 'score': 0.23}, {'connected_gene': 'ENSG00000250950', 'score': 0.21}]
chr4 GH04I119524 119524234 119527521 1.01 [{'connected_gene': 'LOC645513', 'score': 56.77}, {'connected_gene': 'KLHL2P1', 'score': 5.9}, {'connected_gene': 'GC04P119579', 'score': 0.26}, {'connected_gene': 'ENSG00000250950', 'score': 0.2}, {'connected_gene': 'PDE5A', 'score': 0.15}]
chr4 GH04I119653 119653905 119660261 0.72 [{'connected_gene': 'LOC645513', 'score': 42.48}, {'connected_gene': 'USP53', 'score': 15.35}, {'connected_gene': 'PDE5A', 'score': 11.94}, {'connected_gene': 'ENSG00000260091', 'score': 5.66}, {'connected_gene': 'KLHL2P1', 'score': 5.53}, {'connected_gene': 'LOC105377397', 'score': 0.29}]
chr4 GH04I119572 119572060 119572142 0.22 [{'connected_gene': 'C4orf3', 'score': 3.81}, {'connected_gene': 'ENSG00000221245', 'score': 0.77}, {'connected_gene': 'GC04P119639', 'score': 0.22}, {'connected_gene': 'PDE5A', 'score': 0.22}]
chr4 GH04I119678 119678669 119680135 0.51 [{'connected_gene': 'LOC105377397', 'score': 0.39}, {'connected_gene': 'PDE5A', 'score': 0.23}]
chr4 GH04I119663 119663401 119663600 0.2 [{'connected_gene': 'LOC105377397', 'score': 0.31}, {'connected_gene': 'PDE5A', 'score': 0.29}]
chr4 GH04I119623 119623210 119632962 2.13 [{'connected_gene': 'LOC105377396', 'score': 550.77}, {'connected_gene': 'GC04M119628', 'score': 550.77}, {'connected_gene': 'GC04P119639', 'score': 550.77}, {'connected_gene': 'PDE5A', 'score': 550.77}, {'connected_gene': 'LOC645513', 'score': 35.45}, {'connected_gene': 'USP53', 'score': 16.66}, {'connected_gene': 'FABP2', 'score': 6.5}, {'connected_gene': 'KLHL2P1', 'score': 5.87}, {'connected_gene': 'ENSG00000260091', 'score': 5.61}]
chr4 GH04I119589 119589900 119590122 0.22 [{'connected_gene': 'ENSG00000221245', 'score': 11.48}, {'connected_gene': 'PDE5A', 'score': 11.14}, {'connected_gene': 'GC04P119639', 'score': 0.28}]
chr4 GH04I119536 119536686 119536835 0.38 [{'connected_gene': 'ENSG00000221245', 'score': 11.23}, {'connected_gene': 'GC04P119579', 'score': 0.29}, {'connected_gene': 'ENSG00000250950', 'score': 0.18}, {'connected_gene': 'LOC645513', 'score': 0.18}, {'connected_gene': 'PDE5A', 'score': 0.16}]
chr4 GH04I119569 119569803 119571213 0.2 [{'connected_gene': 'ENSG00000221245', 'score': 550.77}, {'connected_gene': 'GC04P119579', 'score': 550.77}, {'connected_gene': 'USP53', 'score': 16.55}, {'connected_gene': 'LOC645513', 'score': 8.94}, {'connected_gene': 'KLHL2P1', 'score': 5.88}, {'connected_gene': 'GC04P119639', 'score': 0.22}, {'connected_gene': 'PDE5A', 'score': 0.22}]

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