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
ENST00000607371 [[40308908, 40309136], [40311752, 40312453], [40314265, 40314339], [40315245, 40315352], [40315623, 40315976], [40316147, 40316186], [40317466, 40317711], [40318314, 40318564], [40321494, 40321694], [40322124, 40322319], [40323805, 40324013], [40327596, 40327754], [40328071, 40328315], [40330117, 40330245], [40330348, 40330495], [40330810, 40331044], [40332887, 40333099]] [[40312057, 40312453], [40314265, 40314339], [40315245, 40315352], [40315623, 40315976], [40316147, 40316186], [40317466, 40317711], [40318314, 40318564], [40321494, 40321694], [40322124, 40322319], [40323805, 40324013], [40327596, 40327754], [40328071, 40328315], [40330117, 40330245], [40330348, 40330495], [40330810, 40331044], [40332887, 40332963]]
ENST00000264661 [[40308912, 40309136], [40311748, 40312453], [40314265, 40314339], [40315245, 40315352], [40315623, 40315976], [40316147, 40316186], [40317466, 40317711], [40318314, 40318564], [40321494, 40321694], [40322124, 40322319], [40323805, 40324013], [40327596, 40327754], [40328071, 40328315], [40330117, 40330245], [40330348, 40330495], [40330810, 40331044], [40332887, 40333296]] [[40312057, 40312453], [40314265, 40314339], [40315245, 40315352], [40315623, 40315976], [40316147, 40316186], [40317466, 40317711], [40318314, 40318564], [40321494, 40321694], [40322124, 40322319], [40323805, 40324013], [40327596, 40327754], [40328071, 40328315], [40330117, 40330245], [40330348, 40330495], [40330810, 40331044], [40332887, 40332963]]
NM_012285 [[40308909, 40309136], [40311748, 40312453], [40314265, 40314339], [40315245, 40315352], [40315623, 40315976], [40316147, 40316186], [40317466, 40317711], [40318314, 40318564], [40321494, 40321694], [40322124, 40322319], [40323805, 40324013], [40327596, 40327754], [40328071, 40328315], [40330117, 40330245], [40330348, 40330495], [40330810, 40331044], [40332887, 40333296]] [[40312057, 40312453], [40314265, 40314339], [40315245, 40315352], [40315623, 40315976], [40316147, 40316186], [40317466, 40317711], [40318314, 40318564], [40321494, 40321694], [40322124, 40322319], [40323805, 40324013], [40327596, 40327754], [40328071, 40328315], [40330117, 40330245], [40330348, 40330495], [40330810, 40331044], [40332887, 40332963]]
Promoter
Chrom Start End Description
chr17 40333109 40333123 CAGE_peak_3_at_KCNH4_5end
chr17 40333150 40333164 CAGE_peak_2_at_KCNH4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I041771 41771280 41780351 1.39 [{'connected_gene': 'HAP1', 'score': 5.81}, {'connected_gene': 'NT5C3B', 'score': 4.98}, {'connected_gene': 'KCNH4', 'score': 4.91}, {'connected_gene': 'JUP', 'score': 0.39}]
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 GH17I042115 42115075 42117633 1.05 [{'connected_gene': 'DHX58', 'score': 36.41}, {'connected_gene': 'CNP', 'score': 11.63}, {'connected_gene': 'KCNH4', 'score': 11.3}, {'connected_gene': 'HCRT', 'score': 11.3}, {'connected_gene': 'RAB5C', 'score': 11.18}, {'connected_gene': 'AOC4P', 'score': 5.5}, {'connected_gene': 'PIR51780', 'score': 0.77}, {'connected_gene': 'GC17P042116', 'score': 0.77}, {'connected_gene': 'KAT2A', 'score': 0.44}]
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 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 GH17I042245 42245834 42256824 1.81 [{'connected_gene': 'STAT5B', 'score': 34.99}, {'connected_gene': 'STAT5A', 'score': 16.0}, {'connected_gene': 'HMGN1P29', 'score': 14.41}, {'connected_gene': 'ENSG00000267758', 'score': 14.3}, {'connected_gene': 'GHDC', 'score': 10.56}, {'connected_gene': 'HCRT', 'score': 10.33}, {'connected_gene': 'KCNH4', 'score': 10.32}, {'connected_gene': 'RPL27', 'score': 10.3}, {'connected_gene': 'NAGLU', 'score': 10.19}, {'connected_gene': 'PLEKHH3', 'score': 10.04}, {'connected_gene': 'ATP6V0A1', 'score': 9.74}, {'connected_gene': 'CNP', 'score': 9.72}, {'connected_gene': 'STAT3', 'score': 6.69}, {'connected_gene': 'MLX', 'score': 5.12}, {'connected_gene': 'EZH1', 'score': 4.89}, {'connected_gene': 'DHX58', 'score': 4.48}, {'connected_gene': 'KLHL11', 'score': 2.07}, {'connected_gene': 'RAB5C', 'score': 1.66}, {'connected_gene': 'RETREG3', 'score': 1.28}, {'connected_gene': 'GC17P042265', 'score': 0.39}, {'connected_gene': 'ENSG00000280295', 'score': 0.37}]
chr17 GH17I042209 42209663 42211006 0.4 [{'connected_gene': 'STAT5B', 'score': 12.14}, {'connected_gene': 'HCRT', 'score': 11.22}, {'connected_gene': 'KCNH4', 'score': 11.2}, {'connected_gene': 'ENSG00000236194', 'score': 10.86}, {'connected_gene': 'GHDC', 'score': 0.37}, {'connected_gene': 'ENSG00000280295', 'score': 0.34}]
chr17 GH17I042211 42211138 42213496 0.58 [{'connected_gene': 'STAT5A', 'score': 12.78}, {'connected_gene': 'STAT5B', 'score': 12.37}, {'connected_gene': 'ENSG00000236194', 'score': 11.55}, {'connected_gene': 'HCRT', 'score': 11.09}, {'connected_gene': 'KCNH4', 'score': 11.07}, {'connected_gene': 'GHDC', 'score': 0.37}, {'connected_gene': 'ENSG00000280295', 'score': 0.34}]
chr17 GH17I042213 42213845 42215622 0.38 [{'connected_gene': 'STAT5A', 'score': 12.67}, {'connected_gene': 'STAT5B', 'score': 12.37}, {'connected_gene': 'HCRT', 'score': 11.0}, {'connected_gene': 'KCNH4', 'score': 10.98}, {'connected_gene': 'NT5C3B', 'score': 6.02}, {'connected_gene': 'ENSG00000280295', 'score': 0.37}, {'connected_gene': 'GHDC', 'score': 0.34}]
chr17 GH17I042218 42218872 42220896 0.2 [{'connected_gene': 'STAT5A', 'score': 12.68}, {'connected_gene': 'STAT5B', 'score': 12.38}, {'connected_gene': 'HCRT', 'score': 10.98}, {'connected_gene': 'KCNH4', 'score': 10.96}, {'connected_gene': 'NT5C3B', 'score': 5.82}, {'connected_gene': 'DHX58', 'score': 5.02}, {'connected_gene': 'ENSG00000280295', 'score': 0.39}, {'connected_gene': 'GHDC', 'score': 0.31}]
chr17 GH17I042178 42178601 42179453 0.88 [{'connected_gene': 'RAB5C', 'score': 12.27}, {'connected_gene': 'CNP', 'score': 9.94}, {'connected_gene': 'ENSG00000236194', 'score': 9.52}, {'connected_gene': 'KCNH4', 'score': 0.77}]
chr17 GH17I042515 42515813 42527972 1.75 [{'connected_gene': 'MLX', 'score': 20.59}, {'connected_gene': 'TUBG2', 'score': 19.88}, {'connected_gene': 'ENSG00000267002', 'score': 15.92}, {'connected_gene': 'CAVIN1', 'score': 15.81}, {'connected_gene': 'NAGLU', 'score': 15.79}, {'connected_gene': 'ENSG00000267340', 'score': 13.59}, {'connected_gene': 'RAB5C', 'score': 12.5}, {'connected_gene': 'KAT2A', 'score': 12.26}, {'connected_gene': 'ATP6V0A1', 'score': 12.1}, {'connected_gene': 'RNU7-97P', 'score': 11.99}, {'connected_gene': 'NBR2', 'score': 11.76}, {'connected_gene': 'P3H4', 'score': 11.21}, {'connected_gene': 'CCR10', 'score': 10.68}, {'connected_gene': 'HCRT', 'score': 10.12}, {'connected_gene': 'KCNH4', 'score': 10.12}, {'connected_gene': 'BECN1', 'score': 5.85}, {'connected_gene': 'DHX58', 'score': 4.58}, {'connected_gene': 'WNK4', 'score': 2.46}, {'connected_gene': 'GC17P042517', 'score': 0.77}, {'connected_gene': 'GC17P042532', 'score': 0.39}]
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 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 GH17I042161 42161086 42162001 0.76 [{'connected_gene': 'NT5C3B', 'score': 8.98}, {'connected_gene': 'DHX58', 'score': 7.08}, {'connected_gene': 'RAB5C', 'score': 0.44}, {'connected_gene': 'KCNH4', 'score': 0.37}]
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 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 GH17I042506 42506305 42507765 0.51 [{'connected_gene': 'RNU7-97P', 'score': 12.67}, {'connected_gene': 'CAVIN1', 'score': 12.19}, {'connected_gene': 'ATP6V0A1', 'score': 12.09}, {'connected_gene': 'PSMC3IP', 'score': 10.55}, {'connected_gene': 'HCRT', 'score': 10.11}, {'connected_gene': 'KCNH4', 'score': 10.11}, {'connected_gene': 'HSD17B1', 'score': 8.32}, {'connected_gene': 'DHX58', 'score': 4.58}, {'connected_gene': 'ENSG00000267632', 'score': 0.77}, {'connected_gene': 'ENSG00000267222', 'score': 0.39}]
chr17 GH17I042511 42511599 42515214 1.03 [{'connected_gene': 'MIR5010', 'score': 550.77}, {'connected_gene': 'RNU7-97P', 'score': 12.35}, {'connected_gene': 'ATP6V0A1', 'score': 12.04}, {'connected_gene': 'CAVIN1', 'score': 11.44}, {'connected_gene': 'STAT5B', 'score': 10.16}, {'connected_gene': 'KCNH4', 'score': 10.11}, {'connected_gene': 'HCRT', 'score': 10.11}, {'connected_gene': 'MLX', 'score': 8.15}, {'connected_gene': 'ENSG00000267632', 'score': 0.77}]
chr17 GH17I042301 42301983 42302562 0.46 [{'connected_gene': 'PIR49037', 'score': 550.77}, {'connected_gene': 'STAT5B', 'score': 12.73}, {'connected_gene': 'ENSG00000236194', 'score': 11.45}, {'connected_gene': 'CAVIN1', 'score': 11.08}, {'connected_gene': 'HCRT', 'score': 10.52}, {'connected_gene': 'KCNH4', 'score': 10.51}, {'connected_gene': 'RNU7-97P', 'score': 10.32}, {'connected_gene': 'GC17M042314', 'score': 0.39}, {'connected_gene': 'STAT5A', 'score': 0.39}]
chr17 GH17I042179 42179821 42181800 1.73 [{'connected_gene': 'GC17P042182', 'score': 550.77}, {'connected_gene': 'KCNH4', 'score': 550.77}, {'connected_gene': 'ENSG00000267758', 'score': 25.45}, {'connected_gene': 'HMGN1P29', 'score': 23.02}, {'connected_gene': 'GHDC', 'score': 11.81}, {'connected_gene': 'NBR2', 'score': 10.23}, {'connected_gene': 'NAGLU', 'score': 10.21}, {'connected_gene': 'STAT5A', 'score': 10.06}, {'connected_gene': 'LOC108783654', 'score': 9.99}, {'connected_gene': 'MLX', 'score': 6.8}, {'connected_gene': 'FKBP10', 'score': 4.12}, {'connected_gene': 'RAB5C', 'score': 0.31}]
chr17 GH17I042508 42508231 42510923 0.38 [{'connected_gene': 'ENSG00000267632', 'score': 550.77}, {'connected_gene': 'RNU7-97P', 'score': 12.37}, {'connected_gene': 'ATP6V0A1', 'score': 12.04}, {'connected_gene': 'CAVIN1', 'score': 11.44}, {'connected_gene': 'HCRT', 'score': 10.11}, {'connected_gene': 'KCNH4', 'score': 10.11}, {'connected_gene': 'MLX', 'score': 8.14}, {'connected_gene': 'STAT5A', 'score': 5.03}, {'connected_gene': 'NAGLU', 'score': 4.53}, {'connected_gene': 'ENSG00000267222', 'score': 0.39}]

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