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
ENST00000496039 [[40177593, 40179151], [40179635, 40180149]] None
ENST00000461831 [[40177593, 40179151], [40179635, 40179746], [40180067, 40180264], [40180584, 40180707]] None
ENST00000436535 [[40179035, 40179151], [40179650, 40179746], [40180067, 40180264], [40180800, 40181094], [40183636, 40183802], [40186242, 40186353], [40189754, 40189903], [40214824, 40215075]] [[40179035, 40179151], [40179650, 40179746], [40180067, 40180264], [40180800, 40181094], [40183636, 40183802], [40186242, 40186353], [40189754, 40189903]]
ENST00000587304 [[40192730, 40193207], [40194851, 40195135]] None
ENST00000453355 [[40213256, 40215076], [40217118, 40217383]] None
NM_001242704 [[40177593, 40179151], [40179635, 40179746], [40180067, 40180264], [40180800, 40181091], [40183636, 40183802], [40186242, 40186353], [40189754, 40189903], [40190031, 40190044]] [[40178914, 40179151], [40179635, 40179746], [40180067, 40180264], [40180800, 40181091], [40183636, 40183802], [40186242, 40186353], [40189754, 40189903], [40190031, 40190044]]
Promoter
Chrom Start End Description
chr17 40180680 40180726 CAGE_peak_1_at_ZNF385C_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I041733 41733372 41735380 1.6 [{'connected_gene': 'HAP1', 'score': 575.32}, {'connected_gene': 'ENSG00000267758', 'score': 28.46}, {'connected_gene': 'STAT5A', 'score': 18.92}, {'connected_gene': 'RETREG3', 'score': 10.69}, {'connected_gene': 'GHDC', 'score': 10.38}, {'connected_gene': 'NAGLU', 'score': 10.16}, {'connected_gene': 'PLEKHH3', 'score': 10.03}, {'connected_gene': 'LOC108783654', 'score': 9.99}, {'connected_gene': 'ZNF385C', 'score': 4.29}, {'connected_gene': 'RN7SL399P', 'score': 0.77}]
chr17 GH17I041705 41705005 41706620 1.3 [{'connected_gene': 'HAP1', 'score': 16.73}, {'connected_gene': 'RN7SL399P', 'score': 11.99}, {'connected_gene': 'FKBP10', 'score': 10.93}, {'connected_gene': 'P3H4', 'score': 10.93}, {'connected_gene': 'KLHL10', 'score': 10.75}, {'connected_gene': 'NT5C3B', 'score': 10.74}, {'connected_gene': 'ENSG00000267765', 'score': 5.03}, {'connected_gene': 'ZNF385C', 'score': 3.98}, {'connected_gene': 'TTC25', 'score': 1.3}, {'connected_gene': 'GAST', 'score': 0.44}, {'connected_gene': 'GC17P041692', 'score': 0.39}, {'connected_gene': 'GC17P041691', 'score': 0.39}]
chr17 GH17I041696 41696256 41697922 1.27 [{'connected_gene': 'HAP1', 'score': 17.34}, {'connected_gene': 'RN7SL399P', 'score': 11.79}, {'connected_gene': 'FKBP10', 'score': 10.87}, {'connected_gene': 'P3H4', 'score': 10.87}, {'connected_gene': 'NT5C3B', 'score': 10.27}, {'connected_gene': 'KLHL10', 'score': 10.27}, {'connected_gene': 'KLHL11', 'score': 10.25}, {'connected_gene': 'ZNF385C', 'score': 4.37}, {'connected_gene': 'GC17P041692', 'score': 0.44}, {'connected_gene': 'GC17P041691', 'score': 0.44}, {'connected_gene': 'GAST', 'score': 0.37}]
chr17 GH17I042128 42128774 42137199 1.39 [{'connected_gene': 'DHX58', 'score': 44.14}, {'connected_gene': 'CNP', 'score': 23.74}, {'connected_gene': 'HSPB9', 'score': 22.62}, {'connected_gene': 'CNTD1', 'score': 15.62}, {'connected_gene': 'NBR2', 'score': 13.14}, {'connected_gene': 'RETREG3', 'score': 12.95}, {'connected_gene': 'RAB5C', 'score': 12.79}, {'connected_gene': 'KCNH4', 'score': 11.47}, {'connected_gene': 'HCRT', 'score': 11.45}, {'connected_gene': 'ZNF385C', 'score': 11.02}, {'connected_gene': 'DNAJC7', 'score': 10.83}, {'connected_gene': 'NKIRAS2', 'score': 10.82}, {'connected_gene': 'PLEKHH3', 'score': 9.99}, {'connected_gene': 'ENSG00000236194', 'score': 9.9}, {'connected_gene': 'KLHL11', 'score': 9.26}, {'connected_gene': 'PIR31172', 'score': 0.44}, {'connected_gene': 'ENSG00000267261', 'score': 0.34}, {'connected_gene': 'LOC105371781', 'score': 0.34}]
chr17 GH17I042110 42110772 42114032 1.85 [{'connected_gene': 'DHX58', 'score': 585.51}, {'connected_gene': 'PIR51780', 'score': 550.77}, {'connected_gene': 'GC17P042116', 'score': 550.77}, {'connected_gene': 'CNP', 'score': 11.63}, {'connected_gene': 'KCNH4', 'score': 11.3}, {'connected_gene': 'HCRT', 'score': 11.28}, {'connected_gene': 'RAB5C', 'score': 11.16}, {'connected_gene': 'IFI35', 'score': 6.86}, {'connected_gene': 'AOC4P', 'score': 5.53}, {'connected_gene': 'KAT2A', 'score': 0.44}, {'connected_gene': 'ZNF385C', 'score': 0.39}]
chr17 GH17I042088 42088458 42088468 0.78 [{'connected_gene': 'DHX58', 'score': 12.14}, {'connected_gene': 'KCNH4', 'score': 10.41}, {'connected_gene': 'HCRT', 'score': 10.41}, {'connected_gene': 'KLHL10', 'score': 5.13}, {'connected_gene': 'HSPB9', 'score': 5.1}, {'connected_gene': 'CNP', 'score': 2.41}, {'connected_gene': 'TTC25', 'score': 1.53}, {'connected_gene': 'ZNF385C', 'score': 0.39}, {'connected_gene': 'C17orf113', 'score': 0.28}]
chr17 GH17I042082 42082223 42082372 0.43 [{'connected_gene': 'DHX58', 'score': 12.1}, {'connected_gene': 'KCNH4', 'score': 10.41}, {'connected_gene': 'HCRT', 'score': 10.4}, {'connected_gene': 'ZNF385C', 'score': 0.37}, {'connected_gene': 'C17orf113', 'score': 0.29}]
chr17 GH17I042026 42026411 42029065 1.2 [{'connected_gene': 'DHX58', 'score': 12.57}, {'connected_gene': 'ZNF385C', 'score': 12.4}, {'connected_gene': 'CNP', 'score': 11.26}, {'connected_gene': 'KLHL11', 'score': 9.88}, {'connected_gene': 'RNU7-97P', 'score': 9.59}, {'connected_gene': 'PIR51799', 'score': 0.77}, {'connected_gene': 'GC17M042043', 'score': 0.39}]
chr17 GH17I042107 42107201 42108886 1.05 [{'connected_gene': 'DHX58', 'score': 34.88}, {'connected_gene': 'ZNF385C', 'score': 0.44}]
chr17 GH17I041995 41995623 41997263 0.82 [{'connected_gene': 'DNAJC7', 'score': 12.28}, {'connected_gene': 'CNP', 'score': 11.74}, {'connected_gene': 'ZNF385C', 'score': 11.07}, {'connected_gene': 'KCNH4', 'score': 10.4}, {'connected_gene': 'HCRT', 'score': 10.4}, {'connected_gene': 'KLHL11', 'score': 9.89}, {'connected_gene': 'NKIRAS2', 'score': 0.39}, {'connected_gene': 'GC17M041984', 'score': 0.39}]
chr17 GH17I042015 42015853 42018754 2.29 [{'connected_gene': 'DNAJC7', 'score': 550.77}, {'connected_gene': 'NKIRAS2', 'score': 550.44}, {'connected_gene': 'ENSG00000267758', 'score': 34.95}, {'connected_gene': 'CNTNAP1', 'score': 21.73}, {'connected_gene': 'ENSG00000259623', 'score': 21.38}, {'connected_gene': 'STAT5A', 'score': 18.99}, {'connected_gene': 'NAGLU', 'score': 18.28}, {'connected_gene': 'NT5C3B', 'score': 17.84}, {'connected_gene': 'TUBG2', 'score': 16.9}, {'connected_gene': 'RETREG3', 'score': 14.52}, {'connected_gene': 'CNP', 'score': 11.69}, {'connected_gene': 'GHDC', 'score': 11.51}, {'connected_gene': 'ENSG00000267765', 'score': 11.26}, {'connected_gene': 'ZNF385C', 'score': 10.73}, {'connected_gene': 'ACLY', 'score': 10.35}, {'connected_gene': 'PSME3', 'score': 10.32}, {'connected_gene': 'LOC108783654', 'score': 9.97}, {'connected_gene': 'HSD17B1P1', 'score': 9.91}]
chr17 GH17I041989 41989863 41990012 1.07 [{'connected_gene': 'CNP', 'score': 11.73}, {'connected_gene': 'NKIRAS2', 'score': 11.46}, {'connected_gene': 'DNAJC7', 'score': 11.42}, {'connected_gene': 'ZNF385C', 'score': 10.8}, {'connected_gene': 'KLHL11', 'score': 10.09}, {'connected_gene': 'GC17M041984', 'score': 0.77}]
chr17 GH17I042101 42101643 42101812 0.83 [{'connected_gene': 'CNP', 'score': 10.53}, {'connected_gene': 'KCNH4', 'score': 10.5}, {'connected_gene': 'HCRT', 'score': 10.49}, {'connected_gene': 'KLHL11', 'score': 10.1}, {'connected_gene': 'ZNF385C', 'score': 0.77}, {'connected_gene': 'DHX58', 'score': 0.39}]
chr17 GH17I042071 42071609 42073165 0.63 [{'connected_gene': 'JUP', 'score': 8.34}, {'connected_gene': 'NT5C3B', 'score': 8.1}, {'connected_gene': 'CNP', 'score': 4.75}, {'connected_gene': 'C17orf113', 'score': 0.34}, {'connected_gene': 'ZNF385C', 'score': 0.31}]
chr17 GH17I042010 42010001 42013938 1.07 [{'connected_gene': 'NKIRAS2', 'score': 550.77}, {'connected_gene': 'NT5C3B', 'score': 20.33}, {'connected_gene': 'CNP', 'score': 11.71}, {'connected_gene': 'ZNF385C', 'score': 10.72}, {'connected_gene': 'DNAJC7', 'score': 0.44}]
chr17 GH17I042324 42324683 42326649 0.88 [{'connected_gene': 'CAVIN1', 'score': 12.02}, {'connected_gene': 'STAT5B', 'score': 11.83}, {'connected_gene': 'ATP6V0A1', 'score': 11.69}, {'connected_gene': 'RNU7-97P', 'score': 11.15}, {'connected_gene': 'ZNF385C', 'score': 10.43}, {'connected_gene': 'MIR5010', 'score': 4.76}, {'connected_gene': 'GC17M042314', 'score': 0.44}, {'connected_gene': 'GC17M042386', 'score': 0.21}, {'connected_gene': 'STAT3', 'score': 0.21}]
chr17 GH17I042328 42328075 42330438 1 [{'connected_gene': 'CAVIN1', 'score': 12.02}, {'connected_gene': 'STAT5B', 'score': 11.81}, {'connected_gene': 'RNU7-97P', 'score': 11.15}, {'connected_gene': 'ATP6V0A1', 'score': 10.94}, {'connected_gene': 'ZNF385C', 'score': 10.42}, {'connected_gene': 'STAT3', 'score': 4.89}, {'connected_gene': 'LOC105371781', 'score': 4.72}, {'connected_gene': 'MIR5010', 'score': 4.67}, {'connected_gene': 'GC17M042314', 'score': 0.39}, {'connected_gene': 'GC17M042386', 'score': 0.22}]
chr17 GH17I042332 42332762 42333784 0.63 [{'connected_gene': 'CAVIN1', 'score': 12.02}, {'connected_gene': 'STAT5B', 'score': 11.8}, {'connected_gene': 'RNU7-97P', 'score': 11.16}, {'connected_gene': 'ATP6V0A1', 'score': 10.94}, {'connected_gene': 'ZNF385C', 'score': 10.42}, {'connected_gene': 'LOC105371781', 'score': 4.85}, {'connected_gene': 'HSPB9', 'score': 4.67}, {'connected_gene': 'GC17M042314', 'score': 0.37}, {'connected_gene': 'GC17M042386', 'score': 0.22}, {'connected_gene': 'STAT3', 'score': 0.22}]
chr17 GH17I042334 42334638 42335529 0.38 [{'connected_gene': 'CAVIN1', 'score': 12.03}, {'connected_gene': 'STAT5B', 'score': 11.8}, {'connected_gene': 'RNU7-97P', 'score': 11.26}, {'connected_gene': 'ATP6V0A1', 'score': 11.08}, {'connected_gene': 'ZNF385C', 'score': 10.42}, {'connected_gene': 'ENSG00000236194', 'score': 10.32}, {'connected_gene': 'LOC105371781', 'score': 4.85}, {'connected_gene': 'GC17M042314', 'score': 0.37}, {'connected_gene': 'GC17M042386', 'score': 0.23}, {'connected_gene': 'STAT3', 'score': 0.23}]
chr17 GH17I042928 42928162 42929973 1.2 [{'connected_gene': 'G6PC', 'score': 13.31}, {'connected_gene': 'LINC00671', 'score': 13.3}, {'connected_gene': 'RNU6-287P', 'score': 13.28}, {'connected_gene': 'AOC3', 'score': 12.38}, {'connected_gene': 'AOC2', 'score': 12.37}, {'connected_gene': 'CNTD1', 'score': 10.8}, {'connected_gene': 'COA3', 'score': 10.8}, {'connected_gene': 'VPS25', 'score': 10.73}, {'connected_gene': 'RAMP2-AS1', 'score': 10.72}, {'connected_gene': 'HMGN2P15', 'score': 10.72}, {'connected_gene': 'RAMP2', 'score': 10.72}, {'connected_gene': 'VAT1', 'score': 10.6}, {'connected_gene': 'RND2', 'score': 10.6}, {'connected_gene': 'ZNF385C', 'score': 4.61}, {'connected_gene': 'RNY4P2', 'score': 0.77}, {'connected_gene': 'GC17M042933', 'score': 0.77}]
chr17 GH17I042118 42118703 42118832 0.57 [{'connected_gene': 'ZNF385C', 'score': 11.98}, {'connected_gene': 'CNP', 'score': 11.62}, {'connected_gene': 'KCNH4', 'score': 11.3}, {'connected_gene': 'HCRT', 'score': 11.3}, {'connected_gene': 'RAB5C', 'score': 11.18}, {'connected_gene': 'KAT2A', 'score': 0.77}, {'connected_gene': 'PIR51780', 'score': 0.44}, {'connected_gene': 'GC17P042116', 'score': 0.44}]
chr17 GH17I042097 42097650 42099257 0.77 [{'connected_gene': 'ZNF385C', 'score': 550.77}, {'connected_gene': 'CNP', 'score': 10.53}, {'connected_gene': 'KCNH4', 'score': 10.49}, {'connected_gene': 'HCRT', 'score': 10.48}, {'connected_gene': 'KLHL11', 'score': 10.1}, {'connected_gene': 'DHX58', 'score': 9.73}, {'connected_gene': 'C17orf113', 'score': 0.25}]
chr17 GH17I042000 42000043 42001335 0.4 [{'connected_gene': 'NT5C3B', 'score': 23.74}, {'connected_gene': 'DNAJC7', 'score': 12.28}, {'connected_gene': 'CNP', 'score': 11.72}, {'connected_gene': 'ZNF385C', 'score': 11.08}, {'connected_gene': 'DHX58', 'score': 10.64}, {'connected_gene': 'HCRT', 'score': 10.4}, {'connected_gene': 'KCNH4', 'score': 10.4}, {'connected_gene': 'KLHL10', 'score': 10.22}, {'connected_gene': 'KLHL11', 'score': 9.89}, {'connected_gene': 'NKIRAS2', 'score': 0.39}, {'connected_gene': 'GC17M041984', 'score': 0.39}]
chr17 GH17I041991 41991494 41993625 0.63 [{'connected_gene': 'NT5C3B', 'score': 21.68}, {'connected_gene': 'DNAJC7', 'score': 12.26}, {'connected_gene': 'CNP', 'score': 11.74}, {'connected_gene': 'ZNF385C', 'score': 11.06}, {'connected_gene': 'KCNH4', 'score': 10.4}, {'connected_gene': 'HCRT', 'score': 10.4}, {'connected_gene': 'KLHL11', 'score': 10.09}, {'connected_gene': 'DHX58', 'score': 4.43}, {'connected_gene': 'GC17M041984', 'score': 0.44}, {'connected_gene': 'NKIRAS2', 'score': 0.37}]
chr17 GH17I041981 41981395 41983100 0.38 [{'connected_gene': 'NT5C3B', 'score': 18.79}, {'connected_gene': 'NKIRAS2', 'score': 11.66}, {'connected_gene': 'DNAJC7', 'score': 11.62}, {'connected_gene': 'ZNF385C', 'score': 10.77}, {'connected_gene': 'RAB5C', 'score': 10.52}, {'connected_gene': 'KLHL10', 'score': 10.12}, {'connected_gene': 'KCNH4', 'score': 10.03}, {'connected_gene': 'HCRT', 'score': 10.03}, {'connected_gene': 'GC17M041984', 'score': 0.77}, {'connected_gene': 'GC17P041975', 'score': 0.44}]
chr17 GH17I042002 42002383 42003574 0.93 [{'connected_gene': 'NT5C3B', 'score': 15.2}, {'connected_gene': 'ZNF385C', 'score': 11.94}, {'connected_gene': 'CNP', 'score': 11.72}, {'connected_gene': 'KLHL11', 'score': 10.37}, {'connected_gene': 'NKIRAS2', 'score': 0.44}, {'connected_gene': 'GC17M041984', 'score': 0.37}, {'connected_gene': 'DNAJC7', 'score': 0.37}]
chr17 GH17I042065 42065263 42065412 0.31 [{'connected_gene': 'NT5C3B', 'score': 4.45}, {'connected_gene': 'C17orf113', 'score': 0.39}, {'connected_gene': 'ZNF385C', 'score': 0.29}]
chr17 GH17I042050 42050000 42051001 1.34 [{'connected_gene': 'C17orf113', 'score': 550.77}, {'connected_gene': 'DNAJC7', 'score': 11.92}, {'connected_gene': 'NKIRAS2', 'score': 11.88}, {'connected_gene': 'DHX58', 'score': 11.53}, {'connected_gene': 'CNP', 'score': 10.8}, {'connected_gene': 'RAB5C', 'score': 10.52}, {'connected_gene': 'HCRT', 'score': 10.09}, {'connected_gene': 'KCNH4', 'score': 10.09}, {'connected_gene': 'NT5C3B', 'score': 6.42}, {'connected_gene': 'PIR44940', 'score': 0.77}, {'connected_gene': 'ZNF385C', 'score': 0.25}]
chr17 GH17I042049 42049034 42049272 0.22 [{'connected_gene': 'C17orf113', 'score': 550.77}, {'connected_gene': 'CNP', 'score': 12.5}, {'connected_gene': 'DNAJC7', 'score': 11.92}, {'connected_gene': 'NKIRAS2', 'score': 11.88}, {'connected_gene': 'DHX58', 'score': 11.53}, {'connected_gene': 'RAB5C', 'score': 10.51}, {'connected_gene': 'HCRT', 'score': 10.1}, {'connected_gene': 'KCNH4', 'score': 10.09}, {'connected_gene': 'PIR44940', 'score': 0.77}, {'connected_gene': 'ZNF385C', 'score': 0.25}]
chr17 GH17I042068 42067363 42067512 0.78 [{'connected_gene': 'C17orf113', 'score': 0.37}, {'connected_gene': 'ZNF385C', 'score': 0.29}]
chr17 GH17I042067 42067643 42067792 0.76 [{'connected_gene': 'C17orf113', 'score': 0.37}, {'connected_gene': 'ZNF385C', 'score': 0.29}]
chr17 GH17I042063 42063343 42064645 1.16 [{'connected_gene': 'LOC108783654', 'score': 5.28}, {'connected_gene': 'IFI35', 'score': 5.03}, {'connected_gene': 'JUP', 'score': 4.16}, {'connected_gene': 'ATP6V0A1', 'score': 1.57}, {'connected_gene': 'C17orf113', 'score': 0.39}, {'connected_gene': 'ZNF385C', 'score': 0.29}]
chr17 GH17I041664 41664859 41668475 1.75 [{'connected_gene': 'ENSG00000278954', 'score': 550.77}, {'connected_gene': 'GC17M041665', 'score': 550.77}, {'connected_gene': 'HAP1', 'score': 6.54}, {'connected_gene': 'ZNF385C', 'score': 4.58}]
chr17 GH17I041965 41965171 41968624 2.22 [{'connected_gene': 'GC17P041968', 'score': 550.77}, {'connected_gene': 'GC17P041973', 'score': 550.77}, {'connected_gene': 'PIR42788', 'score': 550.77}, {'connected_gene': 'CNP', 'score': 550.77}, {'connected_gene': 'NT5C3B', 'score': 59.04}, {'connected_gene': 'ENSG00000267758', 'score': 16.37}, {'connected_gene': 'NKIRAS2', 'score': 11.12}, {'connected_gene': 'DNAJC7', 'score': 11.09}, {'connected_gene': 'ZNF385C', 'score': 10.7}, {'connected_gene': 'DHX58', 'score': 10.61}, {'connected_gene': 'STAT5A', 'score': 10.47}, {'connected_gene': 'KLHL11', 'score': 10.3}, {'connected_gene': 'RAB5C', 'score': 10.27}, {'connected_gene': 'PSME3', 'score': 10.24}, {'connected_gene': 'VPS25', 'score': 10.15}, {'connected_gene': 'TTC25', 'score': 0.28}]
chr17 GH17I041917 41917153 41920817 2.24 [{'connected_gene': 'GC17P041919', 'score': 550.77}, {'connected_gene': 'ACLY', 'score': 550.39}, {'connected_gene': 'NT5C3B', 'score': 32.75}, {'connected_gene': 'HSD17B1', 'score': 10.19}, {'connected_gene': 'FKBP10', 'score': 6.6}, {'connected_gene': 'ZNF385C', 'score': 5.07}, {'connected_gene': 'GC17M041900', 'score': 0.34}, {'connected_gene': 'PIR36467', 'score': 0.34}]
chr17 GH17I042022 42022530 42026175 1.41 [{'connected_gene': 'PIR51799', 'score': 550.77}, {'connected_gene': 'NT5C3B', 'score': 20.22}, {'connected_gene': 'PLEKHH3', 'score': 12.75}, {'connected_gene': 'DHX58', 'score': 12.12}, {'connected_gene': 'ZNF385C', 'score': 11.67}, {'connected_gene': 'CNP', 'score': 11.02}, {'connected_gene': 'ACLY', 'score': 10.3}, {'connected_gene': 'DNAJC7', 'score': 0.77}, {'connected_gene': 'NKIRAS2', 'score': 0.39}]
chr17 GH17I041986 41986586 41988590 0.75 [{'connected_gene': 'GC17M041984', 'score': 550.77}, {'connected_gene': 'NT5C3B', 'score': 23.69}, {'connected_gene': 'HMGN2P15', 'score': 12.75}, {'connected_gene': 'RAMP2-AS1', 'score': 12.32}, {'connected_gene': 'CNP', 'score': 11.99}, {'connected_gene': 'NKIRAS2', 'score': 11.46}, {'connected_gene': 'DNAJC7', 'score': 11.42}, {'connected_gene': 'ZNF385C', 'score': 10.88}, {'connected_gene': 'KLHL11', 'score': 10.41}, {'connected_gene': 'KLHL10', 'score': 10.22}]

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