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
ENST00000269300 [[8782232, 8784103], [8784221, 8784334], [8784946, 8785029], [8785104, 8785198], [8788023, 8788100], [8789545, 8789639], [8789793, 8789922], [8790412, 8790538], [8790837, 8791000], [8791487, 8792208], [8792455, 8792539], [8793289, 8793443], [8796902, 8796972], [8808093, 8808232], [8808985, 8809054], [8812390, 8812491], [8814708, 8814824], [8868912, 8869020]] [[8793289, 8793443], [8796902, 8796972], [8808093, 8808232], [8808985, 8809054], [8812390, 8812491], [8814708, 8814811]]
ENST00000447110 [[8782235, 8784103], [8784221, 8784334], [8784946, 8785029], [8785104, 8785198], [8788023, 8788100], [8789545, 8789639], [8789793, 8789922], [8790412, 8790538], [8790837, 8791000], [8791487, 8792208], [8792455, 8792539], [8793289, 8793443], [8794054, 8794229], [8796902, 8796972], [8808093, 8808232], [8808985, 8809054], [8812390, 8812491], [8814708, 8814824], [8868912, 8869024]] [[8783955, 8784103], [8784221, 8784334], [8784946, 8785029], [8785104, 8785198], [8788023, 8788100], [8789545, 8789639], [8789793, 8789922], [8790412, 8790538], [8790837, 8791000], [8791487, 8792208], [8792455, 8792539], [8793289, 8793443], [8794054, 8794229], [8796902, 8796972], [8808093, 8808232], [8808985, 8809054], [8812390, 8812491], [8814708, 8814811]]
ENST00000581552 [[8783412, 8784103], [8784221, 8784334], [8784946, 8785029], [8785104, 8785198], [8788023, 8788100], [8789545, 8789639], [8789793, 8789922], [8790412, 8790538], [8790837, 8791000], [8791487, 8792208], [8792455, 8792539], [8793289, 8793443], [8794054, 8794229], [8796902, 8796972], [8808093, 8808232], [8808985, 8809054], [8812390, 8812491], [8814708, 8814824], [8815780, 8815834]] [[8783955, 8784103], [8784221, 8784334], [8784946, 8785029], [8785104, 8785198], [8788023, 8788100], [8789545, 8789639], [8789793, 8789922], [8790412, 8790538], [8790837, 8791000], [8791487, 8792208], [8792455, 8792539], [8793289, 8793443], [8794054, 8794229], [8796902, 8796972], [8808093, 8808232], [8808985, 8809054], [8812390, 8812491], [8814708, 8814811]]
ENST00000585260 [[8783780, 8784334], [8784946, 8785029], [8785104, 8785186]] [[8784217, 8784334], [8784946, 8785029], [8785104, 8785186]]
ENST00000583810 [[8783894, 8784103], [8784221, 8784334], [8784946, 8785029], [8785104, 8785825]] None
ENST00000584803 [[8783955, 8784103], [8784221, 8784334], [8784946, 8785029], [8785104, 8785198], [8788023, 8788100], [8789545, 8789639], [8789793, 8789919], [8790412, 8790538], [8790837, 8791000], [8791487, 8792208], [8792455, 8792539], [8793289, 8793443], [8794054, 8794229], [8796902, 8796972], [8808093, 8808232], [8808985, 8809054], [8812390, 8812491], [8814708, 8814824]] [[8783955, 8784103], [8784221, 8784334], [8784946, 8785029], [8785104, 8785198], [8788023, 8788100], [8789545, 8789639], [8789793, 8789919], [8790412, 8790538], [8790837, 8791000], [8791487, 8792208], [8792455, 8792539], [8793289, 8793443], [8794054, 8794229], [8796902, 8796972], [8808093, 8808232], [8808985, 8809054], [8812390, 8812491], [8814708, 8814811]]
ENST00000578515 [[8783955, 8784103], [8784221, 8784334], [8784946, 8785198], [8788023, 8788100], [8789545, 8789639], [8789793, 8789919], [8790412, 8790538], [8790837, 8791000], [8791487, 8792208], [8792455, 8792539], [8793289, 8793443], [8794054, 8794229], [8796902, 8796972], [8808093, 8808232], [8808985, 8809054], [8812390, 8812491], [8814708, 8814824], [8868912, 8869024]] None
ENST00000578743 [[8783957, 8784103], [8784221, 8784334], [8784946, 8785029], [8785104, 8785198], [8788023, 8788100], [8788236, 8788403]] None
ENST00000577214 [[8783967, 8784103], [8784221, 8784334], [8784946, 8785029], [8785104, 8785198], [8788023, 8788100], [8789545, 8789639], [8789793, 8789922], [8790412, 8790587]] None
ENST00000583039 [[8790743, 8791000], [8791487, 8791830]] None
ENST00000584456 [[8791954, 8792208], [8792455, 8792539], [8793289, 8793443], [8794054, 8794229], [8796902, 8796972], [8797095, 8797225]] None
ENST00000578457 [[8792057, 8792270], [8792455, 8792539], [8793289, 8793443], [8794054, 8794229], [8796902, 8796972], [8808093, 8808232], [8808985, 8809054], [8812390, 8812491], [8814708, 8814829]] None
ENST00000580959 [[8792057, 8792208], [8792455, 8792539], [8794054, 8794229], [8796902, 8796972], [8808093, 8808232], [8808985, 8809054], [8812390, 8812491], [8814708, 8814824], [8868912, 8868932]] None
ENST00000583812 [[8792139, 8792208], [8792455, 8792539], [8794054, 8794229], [8796902, 8796967]] None
ENST00000577981 [[8794135, 8794229], [8796902, 8796972], [8808093, 8808232], [8808985, 8809054], [8812390, 8812491], [8868912, 8869029]] None
ENST00000581895 [[8812460, 8812491], [8814708, 8815305]] [[8812460, 8812491], [8814708, 8814811]]
ENST00000583222 [[8819016, 8820164], [8868912, 8869024]] None
NM_014308 [[8782232, 8784103], [8784221, 8784334], [8784946, 8785029], [8785104, 8785198], [8788023, 8788100], [8789545, 8789639], [8789793, 8789922], [8790412, 8790538], [8790837, 8791000], [8791487, 8792208], [8792455, 8792539], [8793289, 8793443], [8794054, 8794229], [8796902, 8796972], [8808093, 8808232], [8808985, 8809054], [8812390, 8812491], [8814708, 8814824], [8815780, 8815834]] [[8783955, 8784103], [8784221, 8784334], [8784946, 8785029], [8785104, 8785198], [8788023, 8788100], [8789545, 8789639], [8789793, 8789922], [8790412, 8790538], [8790837, 8791000], [8791487, 8792208], [8792455, 8792539], [8793289, 8793443], [8794054, 8794229], [8796902, 8796972], [8808093, 8808232], [8808985, 8809054], [8812390, 8812491], [8814708, 8814811]]
NM_001251851 [[8782232, 8784103], [8784221, 8784334], [8784946, 8785029], [8785104, 8785198], [8788023, 8788100], [8789545, 8789639], [8789793, 8789922], [8790412, 8790538], [8790837, 8791000], [8791487, 8792270], [8792455, 8792539], [8793289, 8793443], [8794054, 8794229], [8796902, 8796972], [8808093, 8808232], [8808985, 8809054], [8812390, 8812491], [8814708, 8814824], [8868912, 8869029]] [[8783955, 8784103], [8784221, 8784334], [8784946, 8785029], [8785104, 8785198], [8788023, 8788100], [8789545, 8789639], [8789793, 8789922], [8790412, 8790538], [8790837, 8791000], [8791487, 8791945]]
NM_001142633 [[8782232, 8784103], [8784221, 8784334], [8784946, 8785029], [8785104, 8785198], [8788023, 8788100], [8789545, 8789639], [8789793, 8789922], [8790412, 8790538], [8790837, 8791000], [8791487, 8792208], [8792455, 8792539], [8793289, 8793443], [8794054, 8794229], [8796902, 8796972], [8808093, 8808232], [8808985, 8809054], [8812390, 8812491], [8814708, 8814824], [8868912, 8869029]] [[8783955, 8784103], [8784221, 8784334], [8784946, 8785029], [8785104, 8785198], [8788023, 8788100], [8789545, 8789639], [8789793, 8789922], [8790412, 8790538], [8790837, 8791000], [8791487, 8792208], [8792455, 8792539], [8793289, 8793443], [8794054, 8794229], [8796902, 8796972], [8808093, 8808232], [8808985, 8809054], [8812390, 8812491], [8814708, 8814811]]
NM_001251853 [[8782232, 8784103], [8784221, 8784334], [8784946, 8785029], [8785104, 8785198], [8788023, 8788100], [8789545, 8789639], [8789793, 8789922], [8790412, 8790538], [8790837, 8791000], [8791487, 8792208], [8792455, 8792539], [8794054, 8794229], [8796902, 8796972], [8808093, 8808232], [8808985, 8809054], [8812390, 8812491], [8814708, 8814824], [8868912, 8869029]] [[8783955, 8784103], [8784221, 8784334], [8784946, 8785029], [8785104, 8785198], [8788023, 8788100], [8789545, 8789639], [8789793, 8789922], [8790412, 8790538], [8790837, 8791000], [8791487, 8791945]]
NM_001251855 [[8782232, 8784103], [8784221, 8784334], [8784946, 8785029], [8785104, 8785198], [8788023, 8788100], [8789545, 8789639], [8789793, 8789922], [8790412, 8790538], [8790837, 8791000], [8791487, 8792208], [8792455, 8792539], [8793289, 8793443], [8796902, 8796972], [8808093, 8808232], [8808985, 8809054], [8812390, 8812491], [8814708, 8814824], [8868912, 8869029]] [[8783955, 8784103], [8784221, 8784334], [8784946, 8785029], [8785104, 8785198], [8788023, 8788100], [8789545, 8789639], [8789793, 8789922], [8790412, 8790538], [8790837, 8791000], [8791487, 8791945]]
NM_001251852 [[8782232, 8784103], [8784221, 8784334], [8784946, 8785029], [8785104, 8785198], [8788023, 8788100], [8789545, 8789639], [8789793, 8789922], [8790412, 8790538], [8790837, 8791000], [8791487, 8792208], [8792455, 8792539], [8793289, 8793443], [8794054, 8794229], [8796902, 8796972], [8808093, 8808232], [8808985, 8809054], [8812390, 8812491], [8868912, 8869029]] [[8783955, 8784103], [8784221, 8784334], [8784946, 8785029], [8785104, 8785198], [8788023, 8788100], [8789545, 8789639], [8789793, 8789922], [8790412, 8790538], [8790837, 8791000], [8791487, 8791945]]
Promoter
Chrom Start End Description
chr17 8868991 8869059 CAGE_peak_1_at_PIK3R5_5end
chr17 8869311 8869325 CAGE_peak_4_at_PIK3R5_5end
chr17 8869451 8869461 CAGE_peak_3_at_PIK3R5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I008907 8907795 8909372 0.31 [{'connected_gene': 'NTN1', 'score': 10.38}, {'connected_gene': 'PIK3R5', 'score': 6.8}, {'connected_gene': 'GC17M008877', 'score': 0.37}]
chr17 GH17I008417 8417044 8419253 1.35 [{'connected_gene': 'RNF222', 'score': 12.2}, {'connected_gene': 'SPDYE4', 'score': 10.65}, {'connected_gene': 'RNU7-43P', 'score': 10.52}, {'connected_gene': 'MYH10', 'score': 10.44}, {'connected_gene': 'NDEL1', 'score': 9.83}, {'connected_gene': 'PIK3R5', 'score': 4.74}, {'connected_gene': 'PER1', 'score': 4.48}, {'connected_gene': 'CTC1', 'score': 2.1}, {'connected_gene': 'VAMP2', 'score': 1.91}, {'connected_gene': 'BORCS6', 'score': 1.75}, {'connected_gene': 'GC17P008467', 'score': 0.25}]
chr17 GH17I008975 8975444 8975672 1.15 [{'connected_gene': 'PFAS', 'score': 20.71}, {'connected_gene': 'ENSG00000269947', 'score': 19.38}, {'connected_gene': 'ENSG00000265749', 'score': 13.06}, {'connected_gene': 'CTC1', 'score': 12.63}, {'connected_gene': 'PIK3R5', 'score': 10.21}, {'connected_gene': 'HES7', 'score': 10.17}, {'connected_gene': 'GC17P008970', 'score': 0.77}, {'connected_gene': 'GC17M008984', 'score': 0.44}, {'connected_gene': 'ENSG00000265975', 'score': 0.44}]
chr17 GH17I008929 8929331 8932383 0.31 [{'connected_gene': 'PFAS', 'score': 14.78}, {'connected_gene': 'PIK3R5', 'score': 12.73}, {'connected_gene': 'CNTROB', 'score': 11.03}, {'connected_gene': 'NTN1', 'score': 9.9}, {'connected_gene': 'SPDYE4', 'score': 9.83}, {'connected_gene': 'ENSG00000265749', 'score': 9.7}, {'connected_gene': 'ENSG00000265975', 'score': 5.01}, {'connected_gene': 'GC17M008877', 'score': 0.26}]
chr17 GH17I008912 8912244 8912333 0.63 [{'connected_gene': 'PIK3R5', 'score': 12.85}, {'connected_gene': 'NTN1', 'score': 10.39}, {'connected_gene': 'GC17M008877', 'score': 0.34}]
chr17 GH17I008920 8920762 8921142 0.83 [{'connected_gene': 'PIK3R5', 'score': 57.37}, {'connected_gene': 'NDEL1', 'score': 1.45}, {'connected_gene': 'GC17M008877', 'score': 0.29}]
chr17 GH17I008918 8918614 8919200 0.89 [{'connected_gene': 'PIK3R5', 'score': 19.08}, {'connected_gene': 'NDEL1', 'score': 5.04}, {'connected_gene': 'GC17M008877', 'score': 0.31}]
chr17 GH17I008927 8927397 8927939 0.78 [{'connected_gene': 'PIK3R5', 'score': 26.33}, {'connected_gene': 'NDEL1', 'score': 4.86}, {'connected_gene': 'GC17M008877', 'score': 0.28}]
chr17 GH17I008897 8897401 8902087 1.5 [{'connected_gene': 'PIK3R5', 'score': 22.41}, {'connected_gene': 'NDEL1', 'score': 5.66}, {'connected_gene': 'GC17M008877', 'score': 0.44}]
chr17 GH17I008926 8925639 8926794 0.71 [{'connected_gene': 'PIK3R5', 'score': 20.1}, {'connected_gene': 'NDEL1', 'score': 2.37}, {'connected_gene': 'GC17M008877', 'score': 0.28}]
chr17 GH17I008921 8921859 8925083 1.44 [{'connected_gene': 'PIK3R5', 'score': 35.79}, {'connected_gene': 'RNF222', 'score': 9.31}, {'connected_gene': 'NDEL1', 'score': 3.57}, {'connected_gene': 'GC17M008877', 'score': 0.29}]
chr17 GH17I008419 8419704 8421728 1.46 [{'connected_gene': 'PIK3R5', 'score': 27.11}, {'connected_gene': 'RNF222', 'score': 12.2}, {'connected_gene': 'SPDYE4', 'score': 10.65}, {'connected_gene': 'RNU7-43P', 'score': 10.52}, {'connected_gene': 'MYH10', 'score': 10.44}, {'connected_gene': 'NDEL1', 'score': 8.97}, {'connected_gene': 'PER1', 'score': 6.66}, {'connected_gene': 'VAMP2', 'score': 1.84}, {'connected_gene': 'BORCS6', 'score': 1.79}, {'connected_gene': 'GC17P008467', 'score': 0.25}]
chr17 GH17I008925 8925361 8925373 0.85 [{'connected_gene': 'PIK3R5', 'score': 12.12}, {'connected_gene': 'RPL26', 'score': 9.69}, {'connected_gene': 'GC17M008877', 'score': 0.28}]
chr17 GH17I008933 8933938 8936204 1.42 [{'connected_gene': 'PIK3R5', 'score': 27.31}, {'connected_gene': 'SPDYE4', 'score': 13.94}, {'connected_gene': 'NTN1', 'score': 9.91}, {'connected_gene': 'NDEL1', 'score': 4.1}, {'connected_gene': 'GC17M008877', 'score': 0.26}]
chr17 GH17I008951 8951043 8962661 1.53 [{'connected_gene': 'PIK3R5', 'score': 40.45}, {'connected_gene': 'SPDYE4', 'score': 9.56}, {'connected_gene': 'GC17M008877', 'score': 0.2}]
chr17 GH17I008962 8962891 8967535 2.32 [{'connected_gene': 'PIK3R5', 'score': 577.17}, {'connected_gene': 'ENSG00000266389', 'score': 550.77}, {'connected_gene': 'CTB-41I6.1', 'score': 550.77}, {'connected_gene': 'SPDYE4', 'score': 9.55}, {'connected_gene': 'ENSG00000265975', 'score': 5.78}, {'connected_gene': 'GC17M008877', 'score': 0.18}]
chr17 GH17I008944 8944555 8946812 0.96 [{'connected_gene': 'PIK3R5', 'score': 71.03}, {'connected_gene': 'ENSG00000266389', 'score': 5.33}, {'connected_gene': 'GC17M008877', 'score': 0.22}]
chr17 GH17I008884 8884764 8886113 0.79 [{'connected_gene': 'PIK3R5', 'score': 6.32}, {'connected_gene': 'GC17M008877', 'score': 0.77}, {'connected_gene': 'GC17P008873', 'score': 0.39}]
chr17 GH17I008904 8904377 8905873 0.4 [{'connected_gene': 'PIK3R5', 'score': 17.95}, {'connected_gene': 'GC17M008877', 'score': 0.39}]
chr17 GH17I008913 8912443 8912502 0.7 [{'connected_gene': 'PIK3R5', 'score': 550.23}, {'connected_gene': 'GC17M008877', 'score': 0.34}]
chr17 GH17I008950 8950640 8950687 0.51 [{'connected_gene': 'PIK3R5', 'score': 0.37}, {'connected_gene': 'GC17M008877', 'score': 0.21}]
chr17 GH17I008938 8938421 8943204 1.19 [{'connected_gene': 'PIK3R5', 'score': 0.34}, {'connected_gene': 'GC17M008877', 'score': 0.23}]
chr17 GH17I008947 8947131 8947545 0.7 [{'connected_gene': 'PIK3R5', 'score': 12.19}, {'connected_gene': 'GC17M008877', 'score': 0.22}]
chr17 GH17I008948 8948121 8950155 0.85 [{'connected_gene': 'PIK3R5', 'score': 0.37}, {'connected_gene': 'GC17M008877', 'score': 0.22}]
chr17 GH17I008856 8856910 8862000 1.57 [{'connected_gene': 'PIK3R6', 'score': 24.42}, {'connected_gene': 'PFAS', 'score': 15.5}, {'connected_gene': 'PIK3R5', 'score': 13.76}, {'connected_gene': 'RPL26', 'score': 11.95}, {'connected_gene': 'CTC1', 'score': 10.93}, {'connected_gene': 'SPDYE4', 'score': 10.32}, {'connected_gene': 'CNTROB', 'score': 10.03}, {'connected_gene': 'NDEL1', 'score': 1.35}, {'connected_gene': 'MFSD6L', 'score': 0.21}]
chr17 GH17I008849 8849393 8853460 0.66 [{'connected_gene': 'PIK3R6', 'score': 19.17}, {'connected_gene': 'PIK3R5', 'score': 11.39}, {'connected_gene': 'SPDYE4', 'score': 10.33}, {'connected_gene': 'MFSD6L', 'score': 0.23}]
chr17 GH17I008895 8895509 8897162 0.46 [{'connected_gene': 'CCDC42', 'score': 11.67}, {'connected_gene': 'ENSG00000271851', 'score': 11.06}, {'connected_gene': 'SPDYE4', 'score': 10.38}, {'connected_gene': 'RANGRF', 'score': 9.91}, {'connected_gene': 'PIK3R5', 'score': 7.64}, {'connected_gene': 'GC17M008877', 'score': 0.44}]
chr17 GH17I009252 9252607 9253888 0.77 [{'connected_gene': 'GC17M009252', 'score': 550.77}, {'connected_gene': 'GC17P009254', 'score': 550.77}, {'connected_gene': 'NTN1', 'score': 10.22}, {'connected_gene': 'PIK3R5', 'score': 1.58}, {'connected_gene': 'LOC105371531', 'score': 0.77}, {'connected_gene': 'STX8', 'score': 0.05}]
chr17 GH17I008894 8894201 8895296 1.17 [{'connected_gene': 'ENSG00000271851', 'score': 11.05}, {'connected_gene': 'RANGRF', 'score': 9.91}, {'connected_gene': 'GC17M008877', 'score': 0.77}, {'connected_gene': 'PIK3R5', 'score': 0.19}]
chr17 GH17I008888 8888584 8888753 0.62 [{'connected_gene': 'GC17M008877', 'score': 550.77}, {'connected_gene': 'PIK3R5', 'score': 18.88}, {'connected_gene': 'PIK3R6', 'score': 8.16}, {'connected_gene': 'GC17P008873', 'score': 0.37}]
chr17 GH17I008915 8915402 8917272 1 [{'connected_gene': 'GC17M008877', 'score': 0.31}, {'connected_gene': 'PIK3R5', 'score': 0.25}]
chr17 GH17I008892 8892424 8892573 0.9 [{'connected_gene': 'GC17M008877', 'score': 0.77}, {'connected_gene': 'PIK3R5', 'score': 0.19}]
chr17 GH17I008984 8984944 8986073 1.2 [{'connected_gene': 'GC17M008984', 'score': 550.77}, {'connected_gene': 'PIK3R5', 'score': 4.63}, {'connected_gene': 'GC17P008993', 'score': 0.44}]

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