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
ENST00000263372 [[38810483, 38810912], [38817232, 38817628], [38817819, 38819660]] [[38810590, 38810912], [38817232, 38817628], [38817819, 38818043]]
ENST00000588137 [[38810882, 38810912], [38815682, 38816129]] None
NM_004823 [[38810483, 38810912], [38817232, 38817628], [38817819, 38819654]] [[38810590, 38810912], [38817232, 38817628], [38817819, 38818043]]
Promoter
Chrom Start End Description
chr19 38810447 38810529 CAGE_peak_1_at_KCNK6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I038312 38312659 38322581 2.82 [{'connected_gene': 'KCNK6', 'score': 556.04}, {'connected_gene': 'YIF1B', 'score': 550.77}, {'connected_gene': 'HNRNPL', 'score': 58.53}, {'connected_gene': 'C19orf33', 'score': 56.77}, {'connected_gene': 'ZNF527', 'score': 55.4}, {'connected_gene': 'ZNF571', 'score': 42.05}, {'connected_gene': 'ZNF573', 'score': 38.29}, {'connected_gene': 'ZFP30', 'score': 31.61}, {'connected_gene': 'ZNF607', 'score': 24.15}, {'connected_gene': 'ZNF793', 'score': 23.0}, {'connected_gene': 'ENSG00000267682', 'score': 19.7}, {'connected_gene': 'CATSPERG', 'score': 19.64}, {'connected_gene': 'ENSG00000269688', 'score': 18.56}, {'connected_gene': 'SPINT2', 'score': 16.45}, {'connected_gene': 'ZNF540', 'score': 15.77}, {'connected_gene': 'ZNF571-AS1', 'score': 13.96}, {'connected_gene': 'ZNF793-AS1', 'score': 13.74}, {'connected_gene': 'ZNF781', 'score': 13.45}, {'connected_gene': 'PPP1R14A', 'score': 11.47}, {'connected_gene': 'ZNF569', 'score': 11.19}, {'connected_gene': 'ZNF570', 'score': 11.1}, {'connected_gene': 'PAK4', 'score': 10.52}, {'connected_gene': 'ENSG00000268756', 'score': 9.86}, {'connected_gene': 'SELENOKP1', 'score': 9.8}, {'connected_gene': 'RASGRP4', 'score': 9.31}, {'connected_gene': 'PSMD8', 'score': 4.7}, {'connected_gene': 'MAP4K1', 'score': 3.67}, {'connected_gene': 'FAM98C', 'score': 1.95}, {'connected_gene': 'EIF3K', 'score': 1.49}]
chr19 GH19I038297 38297828 38299636 1.09 [{'connected_gene': 'KCNK6', 'score': 12.46}, {'connected_gene': 'CATSPERG', 'score': 12.39}, {'connected_gene': 'PPP1R14A', 'score': 11.82}, {'connected_gene': 'SPINT2', 'score': 11.79}, {'connected_gene': 'C19orf33', 'score': 6.7}, {'connected_gene': 'ENSG00000200209', 'score': 0.77}, {'connected_gene': 'ENSG00000267748', 'score': 0.44}]
chr19 GH19I038233 38233901 38234090 0.83 [{'connected_gene': 'YIF1B', 'score': 16.28}, {'connected_gene': 'PPP1R14A', 'score': 12.51}, {'connected_gene': 'KCNK6', 'score': 12.02}, {'connected_gene': 'CATSPERG', 'score': 12.0}, {'connected_gene': 'RASGRP4', 'score': 10.57}, {'connected_gene': 'RYR1', 'score': 10.57}, {'connected_gene': 'SPRED3', 'score': 10.33}, {'connected_gene': 'GGN', 'score': 10.33}, {'connected_gene': 'FAM98C', 'score': 10.33}, {'connected_gene': 'GC19M038811', 'score': 0.77}, {'connected_gene': 'DPF1', 'score': 0.77}]
chr19 GH19I038281 38281840 38283869 0.57 [{'connected_gene': 'C19orf33', 'score': 58.59}, {'connected_gene': 'PPP1R14A', 'score': 12.29}, {'connected_gene': 'SPINT2', 'score': 12.26}, {'connected_gene': 'YIF1B', 'score': 11.78}, {'connected_gene': 'KCNK6', 'score': 11.76}, {'connected_gene': 'CATSPERG', 'score': 11.44}, {'connected_gene': 'GC19M038828', 'score': 0.44}, {'connected_gene': 'ENSG00000267748', 'score': 0.44}]
chr19 GH19I038269 38269860 38271548 1.4 [{'connected_gene': 'C19orf33', 'score': 34.86}, {'connected_gene': 'CATSPERG', 'score': 27.04}, {'connected_gene': 'HNRNPL', 'score': 17.83}, {'connected_gene': 'HKR1', 'score': 16.88}, {'connected_gene': 'ZNF607', 'score': 15.71}, {'connected_gene': 'ZNF793', 'score': 13.62}, {'connected_gene': 'LOC100631378', 'score': 12.13}, {'connected_gene': 'KCNK6', 'score': 11.92}, {'connected_gene': 'DPF1', 'score': 11.42}, {'connected_gene': 'YIF1B', 'score': 11.39}, {'connected_gene': 'ENSG00000269688', 'score': 10.98}, {'connected_gene': 'SPRED3', 'score': 10.42}, {'connected_gene': 'GGN', 'score': 10.42}, {'connected_gene': 'FAM98C', 'score': 10.41}, {'connected_gene': 'ZNF571', 'score': 10.31}, {'connected_gene': 'ZFP30', 'score': 10.27}, {'connected_gene': 'PPP1R14A', 'score': 5.59}, {'connected_gene': 'WDR87', 'score': 4.16}, {'connected_gene': 'GC19M038828', 'score': 0.77}, {'connected_gene': 'PIR58569', 'score': 0.44}, {'connected_gene': 'SPINT2', 'score': 0.31}]
chr19 GH19I038275 38275910 38276524 0.52 [{'connected_gene': 'C19orf33', 'score': 35.17}, {'connected_gene': 'ZFP30', 'score': 31.7}, {'connected_gene': 'ZNF793', 'score': 28.9}, {'connected_gene': 'ZNF607', 'score': 28.2}, {'connected_gene': 'ZNF527', 'score': 22.26}, {'connected_gene': 'ZNF571', 'score': 20.58}, {'connected_gene': 'ZNF569', 'score': 19.07}, {'connected_gene': 'ZNF540', 'score': 16.66}, {'connected_gene': 'ZNF781', 'score': 15.79}, {'connected_gene': 'ENSG00000267152', 'score': 15.2}, {'connected_gene': 'YIF1B', 'score': 11.86}, {'connected_gene': 'KCNK6', 'score': 11.86}, {'connected_gene': 'DPF1', 'score': 11.4}, {'connected_gene': 'CATSPERG', 'score': 11.07}, {'connected_gene': 'SPRED3', 'score': 10.42}, {'connected_gene': 'GGN', 'score': 10.42}, {'connected_gene': 'HKR1', 'score': 10.42}, {'connected_gene': 'FAM98C', 'score': 10.42}, {'connected_gene': 'LOC100631378', 'score': 9.98}, {'connected_gene': 'GC19M038828', 'score': 0.77}, {'connected_gene': 'ENSG00000267748', 'score': 0.39}, {'connected_gene': 'SPINT2', 'score': 0.29}]
chr19 GH19I038276 38276618 38279171 1.17 [{'connected_gene': 'C19orf33', 'score': 19.15}, {'connected_gene': 'ZFP30', 'score': 17.06}, {'connected_gene': 'ZNF540', 'score': 16.66}, {'connected_gene': 'ZNF793', 'score': 16.45}, {'connected_gene': 'ZNF781', 'score': 15.79}, {'connected_gene': 'ENSG00000267152', 'score': 15.2}, {'connected_gene': 'ZNF527', 'score': 14.16}, {'connected_gene': 'ZNF607', 'score': 14.04}, {'connected_gene': 'PPP1R14A', 'score': 12.32}, {'connected_gene': 'SPINT2', 'score': 12.27}, {'connected_gene': 'YIF1B', 'score': 11.87}, {'connected_gene': 'KCNK6', 'score': 11.86}, {'connected_gene': 'CATSPERG', 'score': 11.43}, {'connected_gene': 'HKR1', 'score': 10.42}, {'connected_gene': 'ZNF571', 'score': 10.33}, {'connected_gene': 'ZNF569', 'score': 10.22}, {'connected_gene': 'GC19M038828', 'score': 0.77}, {'connected_gene': 'ENSG00000267748', 'score': 0.39}]
chr19 GH19I038279 38279941 38281355 0.66 [{'connected_gene': 'C19orf33', 'score': 59.11}, {'connected_gene': 'SPINT2', 'score': 19.18}, {'connected_gene': 'ENSG00000267682', 'score': 15.57}, {'connected_gene': 'ZNF527', 'score': 13.03}, {'connected_gene': 'PPP1R14A', 'score': 12.32}, {'connected_gene': 'YIF1B', 'score': 11.76}, {'connected_gene': 'KCNK6', 'score': 11.76}, {'connected_gene': 'CATSPERG', 'score': 11.43}, {'connected_gene': 'ZFP30', 'score': 10.69}, {'connected_gene': 'HKR1', 'score': 10.04}, {'connected_gene': 'ZNF571', 'score': 9.92}, {'connected_gene': 'FBXO17', 'score': 9.8}, {'connected_gene': 'GC19M038828', 'score': 0.44}, {'connected_gene': 'ENSG00000267748', 'score': 0.44}]
chr19 GH19I038373 38373809 38376975 2.12 [{'connected_gene': 'PSMD8', 'score': 556.27}, {'connected_gene': 'HNRNPL', 'score': 75.17}, {'connected_gene': 'ZFP30', 'score': 61.98}, {'connected_gene': 'ZNF571', 'score': 47.47}, {'connected_gene': 'ZNF793', 'score': 35.63}, {'connected_gene': 'ZNF607', 'score': 34.91}, {'connected_gene': 'RN7SL566P', 'score': 28.9}, {'connected_gene': 'ZNF781', 'score': 26.49}, {'connected_gene': 'ZNF540', 'score': 25.78}, {'connected_gene': 'ENSG00000267152', 'score': 25.05}, {'connected_gene': 'ENSG00000269688', 'score': 21.73}, {'connected_gene': 'ZNF569', 'score': 21.71}, {'connected_gene': 'ZNF573', 'score': 18.76}, {'connected_gene': 'CATSPERG', 'score': 16.57}, {'connected_gene': 'KCNK6', 'score': 16.16}, {'connected_gene': 'ZNF570', 'score': 12.94}, {'connected_gene': 'FBXO17', 'score': 11.83}, {'connected_gene': 'FAM98C', 'score': 11.8}, {'connected_gene': 'YIF1B', 'score': 11.08}, {'connected_gene': 'PPP1R14A', 'score': 10.83}, {'connected_gene': 'SPINT2', 'score': 10.82}, {'connected_gene': 'DPF1', 'score': 10.7}, {'connected_gene': 'RASGRP4', 'score': 10.22}, {'connected_gene': 'RYR1', 'score': 10.21}, {'connected_gene': 'ACTN4', 'score': 10.14}, {'connected_gene': 'ENSG00000268756', 'score': 10.09}, {'connected_gene': 'SAMD4B', 'score': 10.07}, {'connected_gene': 'C19orf33', 'score': 5.52}, {'connected_gene': 'GC19P038373', 'score': 0.77}, {'connected_gene': 'ENSG00000267090', 'score': 0.39}]
chr19 GH19I038402 38402432 38404001 2.09 [{'connected_gene': 'FAM98C', 'score': 550.77}, {'connected_gene': 'ZNF571', 'score': 61.9}, {'connected_gene': 'ZFP30', 'score': 53.48}, {'connected_gene': 'HNRNPL', 'score': 43.66}, {'connected_gene': 'ZNF781', 'score': 39.67}, {'connected_gene': 'ZNF793', 'score': 39.44}, {'connected_gene': 'ZNF607', 'score': 39.04}, {'connected_gene': 'ZNF573', 'score': 28.12}, {'connected_gene': 'ZNF540', 'score': 25.5}, {'connected_gene': 'ZNF570', 'score': 23.09}, {'connected_gene': 'PAF1', 'score': 21.35}, {'connected_gene': 'ENSG00000267152', 'score': 20.79}, {'connected_gene': 'CATSPERG', 'score': 19.16}, {'connected_gene': 'PAK4', 'score': 14.3}, {'connected_gene': 'ZNF571-AS1', 'score': 13.96}, {'connected_gene': 'ZNF793-AS1', 'score': 13.75}, {'connected_gene': 'ENSG00000267892', 'score': 13.5}, {'connected_gene': 'ENSG00000269688', 'score': 13.34}, {'connected_gene': 'LOC100631378', 'score': 13.06}, {'connected_gene': 'LOC728533', 'score': 12.37}, {'connected_gene': 'RN7SL566P', 'score': 12.06}, {'connected_gene': 'ZNF569', 'score': 11.19}, {'connected_gene': 'LOC644554', 'score': 10.45}, {'connected_gene': 'ACTN4', 'score': 10.15}, {'connected_gene': 'ENSG00000268756', 'score': 10.09}, {'connected_gene': 'SAMD4B', 'score': 10.07}, {'connected_gene': 'SELENOKP1', 'score': 9.8}, {'connected_gene': 'LGALS7', 'score': 4.61}, {'connected_gene': 'PSMD8', 'score': 4.6}, {'connected_gene': 'KCNK6', 'score': 4.23}, {'connected_gene': 'GC19P038425', 'score': 0.34}]
chr19 GH19I039306 39306541 39306690 0.71 [{'connected_gene': 'EID2B', 'score': 17.26}, {'connected_gene': 'HNRNPL', 'score': 16.91}, {'connected_gene': 'PLEKHG2', 'score': 16.47}, {'connected_gene': 'MED29', 'score': 15.45}, {'connected_gene': 'FBL', 'score': 14.19}, {'connected_gene': 'RPS16', 'score': 11.75}, {'connected_gene': 'ACTN4', 'score': 10.74}, {'connected_gene': 'KCNK6', 'score': 10.56}, {'connected_gene': 'EID2', 'score': 10.13}, {'connected_gene': 'ENSG00000269688', 'score': 10.09}, {'connected_gene': 'GC19M039722', 'score': 0.77}, {'connected_gene': 'GC19M039740', 'score': 0.77}, {'connected_gene': 'LRFN1', 'score': 0.39}, {'connected_gene': 'IFNL1', 'score': 0.39}, {'connected_gene': 'GC19P039283', 'score': 0.34}]
chr19 GH19I038262 38262531 38269200 2.23 [{'connected_gene': 'SPINT2', 'score': 563.27}, {'connected_gene': 'PIR58569', 'score': 550.77}, {'connected_gene': 'ZNF527', 'score': 53.92}, {'connected_gene': 'ZNF571', 'score': 49.27}, {'connected_gene': 'ZFP30', 'score': 47.92}, {'connected_gene': 'HNRNPL', 'score': 43.77}, {'connected_gene': 'HKR1', 'score': 40.0}, {'connected_gene': 'C19orf33', 'score': 31.45}, {'connected_gene': 'ENSG00000267682', 'score': 25.53}, {'connected_gene': 'CATSPERG', 'score': 24.83}, {'connected_gene': 'ZNF607', 'score': 22.74}, {'connected_gene': 'PPP1R14A', 'score': 21.81}, {'connected_gene': 'ZNF793', 'score': 21.11}, {'connected_gene': 'ENSG00000269688', 'score': 19.41}, {'connected_gene': 'LOC284412', 'score': 13.44}, {'connected_gene': 'ZNF569', 'score': 13.26}, {'connected_gene': 'ZNF781', 'score': 12.55}, {'connected_gene': 'ZNF573', 'score': 12.29}, {'connected_gene': 'KCNK6', 'score': 11.9}, {'connected_gene': 'ENSG00000267152', 'score': 11.67}, {'connected_gene': 'YIF1B', 'score': 11.46}, {'connected_gene': 'DPF1', 'score': 11.44}, {'connected_gene': 'ZNF540', 'score': 10.96}, {'connected_gene': 'FBXO17', 'score': 9.81}, {'connected_gene': 'WDR87', 'score': 4.32}, {'connected_gene': 'GC19M038828', 'score': 0.44}]
chr19 GH19I038237 38237069 38237302 0.33 [{'connected_gene': 'GC19M038811', 'score': 550.77}, {'connected_gene': 'KCNK6', 'score': 12.03}, {'connected_gene': 'CATSPERG', 'score': 12.0}, {'connected_gene': 'YIF1B', 'score': 11.25}, {'connected_gene': 'RASGRP4', 'score': 10.57}, {'connected_gene': 'RYR1', 'score': 10.57}, {'connected_gene': 'SPRED3', 'score': 10.33}, {'connected_gene': 'GGN', 'score': 10.33}, {'connected_gene': 'FAM98C', 'score': 10.33}, {'connected_gene': 'SPINT2', 'score': 0.44}]
chr19 GH19I038134 38134741 38134890 0.63 [{'connected_gene': 'GC19M038834', 'score': 550.77}, {'connected_gene': 'GC19M038855', 'score': 550.77}, {'connected_gene': 'YIF1B', 'score': 10.18}, {'connected_gene': 'KCNK6', 'score': 10.18}, {'connected_gene': 'GC19P038124', 'score': 0.39}, {'connected_gene': 'SIPA1L3', 'score': 0.07}]
chr19 GH19I038136 38134921 38135070 0.54 [{'connected_gene': 'GC19M038834', 'score': 550.77}, {'connected_gene': 'GC19M038855', 'score': 550.77}, {'connected_gene': 'YIF1B', 'score': 10.18}, {'connected_gene': 'KCNK6', 'score': 10.18}, {'connected_gene': 'SIPA1L3', 'score': 5.24}, {'connected_gene': 'GC19P038124', 'score': 0.39}]
chr19 GH19I038282 38281381 38281409 0.58 [{'connected_gene': 'ENSG00000267682', 'score': 15.57}, {'connected_gene': 'ZNF527', 'score': 13.03}, {'connected_gene': 'C19orf33', 'score': 12.99}, {'connected_gene': 'PPP1R14A', 'score': 12.32}, {'connected_gene': 'SPINT2', 'score': 12.26}, {'connected_gene': 'YIF1B', 'score': 11.76}, {'connected_gene': 'KCNK6', 'score': 11.76}, {'connected_gene': 'CATSPERG', 'score': 11.44}, {'connected_gene': 'ZFP30', 'score': 10.69}, {'connected_gene': 'HKR1', 'score': 10.04}, {'connected_gene': 'ZNF571', 'score': 9.92}, {'connected_gene': 'FBXO17', 'score': 9.8}, {'connected_gene': 'GC19M038828', 'score': 0.44}, {'connected_gene': 'ENSG00000267748', 'score': 0.44}]
chr19 GH19I038295 38295660 38297412 0.69 [{'connected_gene': 'ENSG00000200209', 'score': 550.77}, {'connected_gene': 'C19orf33', 'score': 39.99}, {'connected_gene': 'KCNK6', 'score': 12.46}, {'connected_gene': 'CATSPERG', 'score': 12.39}, {'connected_gene': 'PPP1R14A', 'score': 11.83}, {'connected_gene': 'SPINT2', 'score': 11.79}, {'connected_gene': 'YIF1B', 'score': 11.78}, {'connected_gene': 'ENSG00000267892', 'score': 5.32}, {'connected_gene': 'ENSG00000267748', 'score': 0.44}]
chr19 GH19I038271 38271762 38272046 0.43 [{'connected_gene': 'GC19M038828', 'score': 550.77}, {'connected_gene': 'C19orf33', 'score': 19.24}, {'connected_gene': 'DPF1', 'score': 11.42}, {'connected_gene': 'YIF1B', 'score': 11.23}, {'connected_gene': 'KCNK6', 'score': 11.23}, {'connected_gene': 'CATSPERG', 'score': 11.06}, {'connected_gene': 'SPRED3', 'score': 10.42}, {'connected_gene': 'GGN', 'score': 10.42}, {'connected_gene': 'FAM98C', 'score': 10.41}, {'connected_gene': 'PIR58569', 'score': 0.44}, {'connected_gene': 'SPINT2', 'score': 0.31}]
chr19 GH19I038272 38272182 38275144 0.83 [{'connected_gene': 'GC19M038828', 'score': 550.77}, {'connected_gene': 'C19orf33', 'score': 36.34}, {'connected_gene': 'CATSPERG', 'score': 29.32}, {'connected_gene': 'ZNF573', 'score': 18.78}, {'connected_gene': 'ZNF571', 'score': 18.53}, {'connected_gene': 'ZNF527', 'score': 14.28}, {'connected_gene': 'ZNF570', 'score': 12.94}, {'connected_gene': 'DPF1', 'score': 11.42}, {'connected_gene': 'YIF1B', 'score': 11.25}, {'connected_gene': 'KCNK6', 'score': 11.23}, {'connected_gene': 'ZFP30', 'score': 10.85}, {'connected_gene': 'SPRED3', 'score': 10.42}, {'connected_gene': 'GGN', 'score': 10.42}, {'connected_gene': 'FAM98C', 'score': 10.42}, {'connected_gene': 'SPINT2', 'score': 7.26}, {'connected_gene': 'HKR1', 'score': 5.44}, {'connected_gene': 'ENSG00000267748', 'score': 0.37}]
chr19 GH19I038135 38135456 38136070 0.77 [{'connected_gene': 'GC19M038834', 'score': 550.77}, {'connected_gene': 'GC19M038855', 'score': 550.77}, {'connected_gene': 'SIPA1L3', 'score': 15.92}, {'connected_gene': 'YIF1B', 'score': 10.18}, {'connected_gene': 'KCNK6', 'score': 10.18}]

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