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
ENST00000381086 [[45951948, 45953433], [45954403, 45954544], [45956146, 45956266], [45956811, 45957038], [45960336, 45960439], [45960730, 45960871]] [[45954418, 45954544], [45956146, 45956266], [45956811, 45957038], [45960336, 45960439], [45960730, 45960739]]
ENST00000275521 [[45952196, 45953433], [45954403, 45954544], [45956146, 45956266], [45956811, 45957038], [45960336, 45960873]] [[45954418, 45954544], [45956146, 45956266], [45956811, 45957038], [45960336, 45960739]]
ENST00000460209 [[45953371, 45953433], [45954403, 45954924]] None
ENST00000381083 [[45953403, 45953433], [45954403, 45954544], [45956146, 45956266], [45956811, 45957038], [45960318, 45960850]] [[45954418, 45954544], [45956146, 45956266], [45956811, 45957038], [45960318, 45960739]]
ENST00000428530 [[45953699, 45954147], [45954403, 45954544], [45956146, 45956266], [45956811, 45956996]] [[45954418, 45954544], [45956146, 45956266], [45956811, 45956996]]
ENST00000417621 [[45954068, 45954544], [45956146, 45956266], [45956811, 45957025]] [[45954418, 45954544], [45956146, 45956266], [45956811, 45957025]]
ENST00000448817 [[45956170, 45956266], [45956811, 45957038], [45961225, 45961473]] [[45956170, 45956266], [45956811, 45957038], [45961225, 45961298]]
ENST00000465642 [[45956219, 45956266], [45956811, 45957038], [45959625, 45960014]] None
ENST00000460477 [[45956594, 45957038], [45960336, 45960466]] None
NM_001013398 [[45951843, 45953433], [45954403, 45954544], [45956146, 45956266], [45956811, 45957038], [45960318, 45960871]] [[45954418, 45954544], [45956146, 45956266], [45956811, 45957038], [45960318, 45960739]]
NM_000598 [[45951843, 45953433], [45954403, 45954544], [45956146, 45956266], [45956811, 45957038], [45960336, 45960871]] [[45954418, 45954544], [45956146, 45956266], [45956811, 45957038], [45960336, 45960739]]
Promoter
Chrom Start End Description
chr7 45952284 45952293 CAGE_peak_33_at_IGFBP3_5end
chr7 45952362 45952373 CAGE_peak_25_at_IGFBP3_5end
chr7 45952418 45952432 CAGE_peak_11_at_IGFBP3_5end
chr7 45952439 45952454 CAGE_peak_10_at_IGFBP3_5end
chr7 45952458 45952470 CAGE_peak_12_at_IGFBP3_5end
chr7 45952526 45952533 CAGE_peak_32_at_IGFBP3_5end
chr7 45952542 45952547 CAGE_peak_31_at_IGFBP3_5end
chr7 45952555 45952566 CAGE_peak_18_at_IGFBP3_5end
chr7 45952575 45952582 CAGE_peak_26_at_IGFBP3_5end
chr7 45952626 45952637 CAGE_peak_23_at_IGFBP3_5end
chr7 45952643 45952654 CAGE_peak_22_at_IGFBP3_5end
chr7 45952665 45952679 CAGE_peak_8_at_IGFBP3_5end
chr7 45952690 45952701 CAGE_peak_21_at_IGFBP3_5end
chr7 45952705 45952723 CAGE_peak_9_at_IGFBP3_5end
chr7 45952925 45952936 CAGE_peak_14_at_IGFBP3_5end
chr7 45952960 45952978 CAGE_peak_16_at_IGFBP3_5end
chr7 45952985 45952996 CAGE_peak_19_at_IGFBP3_5end
chr7 45953003 45953022 CAGE_peak_17_at_IGFBP3_5end
chr7 45953044 45953078 CAGE_peak_2_at_IGFBP3_5end
chr7 45953080 45953100 CAGE_peak_7_at_IGFBP3_5end
chr7 45953113 45953132 CAGE_peak_13_at_IGFBP3_5end
chr7 45953149 45953156 CAGE_peak_24_at_IGFBP3_5end
chr7 45954422 45954464 CAGE_peak_4_at_IGFBP3_5end
chr7 45954467 45954535 CAGE_peak_6_at_IGFBP3_5end
chr7 45954539 45954548 CAGE_peak_27_at_IGFBP3_5end
chr7 45954635 45954662 CAGE_peak_20_at_IGFBP3_5end
chr7 45954667 45954675 CAGE_peak_42_at_IGFBP3_5end
chr7 45954712 45954720 CAGE_peak_41_at_IGFBP3_5end
chr7 45956182 45956271 CAGE_peak_5_at_IGFBP3_5end
chr7 45956856 45957005 CAGE_peak_3_at_IGFBP3_5end
chr7 45957011 45957025 CAGE_peak_15_at_IGFBP3_5end
chr7 45957026 45957035 CAGE_peak_28_at_IGFBP3_5end
chr7 45960863 45960877 CAGE_peak_1_at_IGFBP3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I045918 45918292 45925137 2.24 [{'connected_gene': 'IGFBP3', 'score': 550.77}, {'connected_gene': 'ENSG00000237471', 'score': 15.43}, {'connected_gene': 'TTC4P1', 'score': 15.17}, {'connected_gene': 'IGFBP1', 'score': 10.95}, {'connected_gene': 'RNU7-76P', 'score': 10.79}, {'connected_gene': 'ENSG00000229628', 'score': 5.98}, {'connected_gene': 'GC07P046311', 'score': 0.39}]
chr7 GH07I046352 46352463 46352592 0.69 [{'connected_gene': 'IGFBP3', 'score': 12.25}, {'connected_gene': 'GC07P046371', 'score': 0.37}, {'connected_gene': 'LOC105375265', 'score': 0.23}]
chr7 GH07I045917 45917682 45917851 0.84 [{'connected_gene': 'IGFBP3', 'score': 0.77}, {'connected_gene': 'GC07P046311', 'score': 0.39}]
chr7 GH07I046143 46143543 46147663 1.46 [{'connected_gene': 'ZNF619P1', 'score': 550.77}, {'connected_gene': 'GC07P046309', 'score': 550.77}, {'connected_gene': 'ENSG00000237471', 'score': 10.32}, {'connected_gene': 'RNU7-76P', 'score': 10.31}, {'connected_gene': 'TTC4P1', 'score': 9.75}, {'connected_gene': 'IGFBP3', 'score': 2.12}, {'connected_gene': 'GC07M046242', 'score': 0.15}]
chr7 GH07I045908 45908288 45908502 0.22 [{'connected_gene': 'GC07P046311', 'score': 550.77}, {'connected_gene': 'IGFBP3', 'score': 0.39}]

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