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
ENST00000507005 [[146348781, 146348928], [146350330, 146351353], [146480483, 146480828]] None
ENST00000361719 [[146348781, 146348928], [146350330, 146351353], [146480483, 146480733], [146625746, 146625982], [146673385, 146673632], [146678661, 146678830], [146708025, 146708152], [146719904, 146720835], [146755007, 146758731]] [[146350653, 146351353], [146480483, 146480733], [146625746, 146625982], [146673385, 146673632], [146678661, 146678830], [146708025, 146708152], [146719904, 146720835], [146755007, 146755932]]
ENST00000392299 [[146348781, 146348928], [146350330, 146351353], [146480483, 146480733], [146625746, 146625982], [146673385, 146673632], [146678661, 146678830], [146708025, 146708152], [146719904, 146720835], [146747694, 146747779], [146755007, 146758731]] [[146350653, 146351353], [146480483, 146480733], [146625746, 146625982], [146673385, 146673632], [146678661, 146678830], [146708025, 146708152], [146719904, 146720835], [146747694, 146747755]]
ENST00000502405 [[146348838, 146348928], [146350333, 146351353], [146480483, 146481027]] None
ENST00000492807 [[146348917, 146348964], [146350333, 146351353], [146480483, 146480733], [146625746, 146625982], [146673385, 146673632], [146678661, 146678830], [146708025, 146708152], [146719904, 146720835], [146747694, 146747779], [146755007, 146758731]] [[146350653, 146351353], [146480483, 146480733], [146625746, 146625982], [146673385, 146673632], [146678661, 146678830], [146708025, 146708152], [146719904, 146720835], [146747694, 146747755]]
ENST00000355289 [[146350418, 146351353], [146480483, 146480733], [146625746, 146625982], [146673385, 146673632], [146678661, 146678830], [146708025, 146708152], [146719904, 146720835], [146755042, 146756021]] [[146350653, 146351353], [146480483, 146480733], [146625746, 146625982], [146673385, 146673632], [146678661, 146678830], [146708025, 146708152], [146719904, 146720835], [146755042, 146755109]]
ENST00000282753 [[146350418, 146351353], [146480483, 146480733], [146625746, 146625982], [146673385, 146673632], [146678661, 146678830], [146708025, 146708152], [146719904, 146720835], [146755007, 146758734]] [[146350653, 146351353], [146480483, 146480733], [146625746, 146625982], [146673385, 146673632], [146678661, 146678830], [146708025, 146708152], [146719904, 146720835], [146755007, 146755932]]
ENST00000507907 [[146350621, 146351353], [146480483, 146480733], [146625746, 146625982], [146673385, 146673632], [146678661, 146678830], [146708025, 146708152], [146719904, 146720835], [146747694, 146747779], [146755042, 146756021]] [[146350653, 146351353], [146480483, 146480733], [146625746, 146625982], [146673385, 146673632], [146678661, 146678830], [146708025, 146708152], [146719904, 146720835], [146747694, 146747755]]
NM_001278065 [[146348917, 146348964], [146350333, 146351353], [146480483, 146480733], [146625746, 146625982], [146673385, 146673632], [146678661, 146678830], [146708025, 146708152], [146719904, 146720835], [146747694, 146747779], [146755007, 146758734]] [[146350653, 146351353], [146480483, 146480733], [146625746, 146625982], [146673385, 146673632], [146678661, 146678830], [146708025, 146708152], [146719904, 146720835], [146747694, 146747755]]
NM_001278067 [[146350333, 146351353], [146480483, 146480733], [146625746, 146625982], [146673385, 146673632], [146678661, 146678830], [146708025, 146708152], [146719904, 146720835], [146755042, 146758734]] [[146350653, 146351353], [146480483, 146480733], [146625746, 146625982], [146673385, 146673632], [146678661, 146678830], [146708025, 146708152], [146719904, 146720835], [146755042, 146755109]]
NM_001278064 [[146350333, 146351353], [146480483, 146480733], [146625746, 146625982], [146673385, 146673632], [146678661, 146678830], [146708025, 146708152], [146719904, 146720835], [146755007, 146758734]] [[146350653, 146351353], [146480483, 146480733], [146625746, 146625982], [146673385, 146673632], [146678661, 146678830], [146708025, 146708152], [146719904, 146720835], [146755007, 146755932]]
NM_001278066 [[146350333, 146351353], [146480483, 146480733], [146625746, 146625982], [146673385, 146673632], [146678661, 146678830], [146708025, 146708152], [146719904, 146720835], [146747694, 146747779], [146755042, 146758734]] [[146350653, 146351353], [146480483, 146480733], [146625746, 146625982], [146673385, 146673632], [146678661, 146678830], [146708025, 146708152], [146719904, 146720835], [146747694, 146747755]]
Promoter
Chrom Start End Description
chr6 146348798 146348809 CAGE_peak_2_at_GRM1_5end
chr6 146348810 146348850 CAGE_peak_1_at_GRM1_5end
chr6 146350194 146350223 CAGE_peak_4_at_GRM1_5end
chr6 146350267 146350276 CAGE_peak_10_at_GRM1_5end
chr6 146350744 146350749 CAGE_peak_8_at_GRM1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I146289 146289846 146291114 1.25 [{'connected_gene': 'FBXO30', 'score': 8.95}, {'connected_gene': 'ENSG00000270638', 'score': 4.86}, {'connected_gene': 'RAB32', 'score': 1.95}, {'connected_gene': 'RNA5SP222', 'score': 0.25}, {'connected_gene': 'GC06P146172', 'score': 0.13}, {'connected_gene': 'GRM1', 'score': 0.05}]
chr6 GH06I146080 146080744 146081073 0.33 [{'connected_gene': 'FUNDC2P3', 'score': 0.16}, {'connected_gene': 'GRM1', 'score': 0.13}]
chr6 GH06I146028 146028325 146028454 0.88 [{'connected_gene': 'GRM1', 'score': 0.21}, {'connected_gene': 'FUNDC2P3', 'score': 0.11}]
chr6 GH06I146029 146029152 146029211 0.61 [{'connected_gene': 'GRM1', 'score': 550.21}, {'connected_gene': 'FUNDC2P3', 'score': 0.11}]
chr6 GH06I146027 146027658 146027717 0.76 [{'connected_gene': 'GRM1', 'score': 550.21}, {'connected_gene': 'FUNDC2P3', 'score': 0.11}]
chr6 GH06I146103 146103585 146103734 0.2 [{'connected_gene': 'GRM1', 'score': 10.31}, {'connected_gene': 'FUNDC2P3', 'score': 0.2}]
chr6 GH06I145962 145962656 145965747 2.04 [{'connected_gene': 'SHPRH', 'score': 550.77}, {'connected_gene': 'GRM1', 'score': 550.77}, {'connected_gene': 'LOC100507557', 'score': 15.38}, {'connected_gene': 'GC06M145895', 'score': 0.2}]
chr6 GH06I146434 146434201 146435000 0.43 [{'connected_gene': 'RAB32', 'score': 10.55}, {'connected_gene': 'ENSG00000216811', 'score': 0.2}, {'connected_gene': 'PIR37857', 'score': 0.14}, {'connected_gene': 'GRM1', 'score': 0.04}]
chr6 GH06I146337 146337525 146337674 0.2 [{'connected_gene': 'RAB32', 'score': 10.21}, {'connected_gene': 'RNA5SP222', 'score': 0.77}, {'connected_gene': 'GC06P146172', 'score': 0.1}, {'connected_gene': 'GRM1', 'score': 0.05}]
chr6 GH06I146336 146336465 146336554 0.2 [{'connected_gene': 'RAB32', 'score': 10.21}, {'connected_gene': 'RNA5SP222', 'score': 0.77}, {'connected_gene': 'GC06P146172', 'score': 0.1}, {'connected_gene': 'GRM1', 'score': 0.05}]
chr6 GH06I146356 146356311 146356741 0.2 [{'connected_gene': 'LOC101928661', 'score': 9.48}, {'connected_gene': 'ADGB', 'score': 9.48}, {'connected_gene': 'GC06P146359', 'score': 0.77}, {'connected_gene': 'RNA5SP222', 'score': 0.37}, {'connected_gene': 'GRM1', 'score': 0.05}]
chr6 GH06I146312 146312765 146312914 0.38 [{'connected_gene': 'RNA5SP222', 'score': 0.31}, {'connected_gene': 'GC06P146172', 'score': 0.11}, {'connected_gene': 'GRM1', 'score': 0.05}]
chr6 GH06I146339 146339673 146340184 0.6 [{'connected_gene': 'RNA5SP222', 'score': 550.77}, {'connected_gene': 'RAB32', 'score': 10.21}, {'connected_gene': 'GC06P146172', 'score': 0.1}, {'connected_gene': 'GRM1', 'score': 0.05}]
chr6 GH06I146357 146357105 146359777 0.95 [{'connected_gene': 'GC06P146359', 'score': 550.77}, {'connected_gene': 'LOC105378042', 'score': 5.49}, {'connected_gene': 'GRM1', 'score': 4.86}, {'connected_gene': 'RNA5SP222', 'score': 0.37}]