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
ENST00000588098 [[42449547, 42449791], [42452026, 42452063]] [[42449731, 42449791], [42452026, 42452063]]
ENST00000587295 [[42449548, 42449791], [42453200, 42453353], [42453452, 42453552]] [[42449731, 42449791], [42453200, 42453353], [42453452, 42453552]]
ENST00000353281 [[42449549, 42449791], [42451721, 42451838], [42452365, 42452479], [42452958, 42453084], [42453200, 42453353], [42453452, 42453552], [42453675, 42453756], [42454376, 42454456], [42455065, 42455158], [42455729, 42455877], [42456010, 42456078], [42457056, 42457182], [42457369, 42457521], [42457613, 42457669], [42457753, 42457858], [42457967, 42458013], [42458246, 42458429], [42460860, 42461072], [42461261, 42461314], [42461452, 42461506], [42461678, 42461722], [42461905, 42461953], [42462315, 42462444], [42462531, 42462577], [42462653, 42462703], [42462918, 42463084], [42463191, 42463289], [42463377, 42463499], [42466653, 42466873]] [[42449731, 42449791], [42451721, 42451838], [42452365, 42452479], [42452958, 42453084], [42453200, 42453353], [42453452, 42453552], [42453675, 42453756], [42454376, 42454456], [42455065, 42455158], [42455729, 42455877], [42456010, 42456078], [42457056, 42457182], [42457369, 42457521], [42457613, 42457669], [42457753, 42457858], [42457967, 42458013], [42458246, 42458429], [42460860, 42461072], [42461261, 42461314], [42461452, 42461506], [42461678, 42461722], [42461905, 42461953], [42462315, 42462444], [42462531, 42462577], [42462653, 42462703], [42462918, 42463084], [42463191, 42463289], [42463377, 42463499], [42466653, 42466841]]
ENST00000262407 [[42449550, 42449791], [42451721, 42451838], [42452026, 42452128], [42452365, 42452479], [42452958, 42453084], [42453200, 42453353], [42453452, 42453552], [42453675, 42453756], [42454376, 42454456], [42455065, 42455158], [42455729, 42455877], [42456010, 42456078], [42457056, 42457182], [42457369, 42457521], [42457613, 42457669], [42457753, 42457858], [42457967, 42458013], [42458246, 42458429], [42460860, 42461072], [42461261, 42461314], [42461452, 42461506], [42461678, 42461722], [42461905, 42461953], [42462315, 42462444], [42462531, 42462577], [42462653, 42462703], [42462918, 42463084], [42463191, 42463289], [42463377, 42463499], [42466653, 42466873]] [[42449731, 42449791], [42451721, 42451838], [42452026, 42452128], [42452365, 42452479], [42452958, 42453084], [42453200, 42453353], [42453452, 42453552], [42453675, 42453756], [42454376, 42454456], [42455065, 42455158], [42455729, 42455877], [42456010, 42456078], [42457056, 42457182], [42457369, 42457521], [42457613, 42457669], [42457753, 42457858], [42457967, 42458013], [42458246, 42458429], [42460860, 42461072], [42461261, 42461314], [42461452, 42461506], [42461678, 42461722], [42461905, 42461953], [42462315, 42462444], [42462531, 42462577], [42462653, 42462703], [42462918, 42463084], [42463191, 42463289], [42463377, 42463499], [42466653, 42466841]]
ENST00000592462 [[42451291, 42453084], [42453200, 42453353], [42453452, 42453552], [42453675, 42453756], [42454376, 42454456], [42455065, 42455158], [42455729, 42455877], [42456010, 42456078], [42457056, 42457182], [42457369, 42457521], [42457613, 42457669], [42457753, 42457858], [42457967, 42458013], [42458246, 42458429], [42460860, 42460865]] None
ENST00000592226 [[42457424, 42457521], [42457613, 42457669], [42457753, 42457858], [42457967, 42458429], [42460860, 42461072], [42461261, 42461314], [42461452, 42461506], [42461678, 42461722], [42461905, 42461953], [42462531, 42462570]] None
ENST00000377068 [[42457424, 42457521], [42457613, 42457669], [42457753, 42457858], [42457967, 42458429], [42460860, 42461072], [42461261, 42461314], [42461452, 42461506], [42461678, 42461722], [42461905, 42461953], [42462531, 42462577], [42462653, 42462688]] [[42458034, 42458429], [42460860, 42461072], [42461261, 42461314]]
ENST00000591990 [[42461050, 42461072], [42461261, 42461314], [42461452, 42461506], [42461678, 42461953], [42462315, 42462444], [42462531, 42462563]] None
ENST00000589645 [[42461131, 42461314], [42461452, 42461506], [42461678, 42461722], [42461905, 42461953], [42462315, 42462444], [42462531, 42462570], [42462649, 42462731]] None
ENST00000592075 [[42461305, 42461506], [42461678, 42461722], [42461905, 42461953], [42462315, 42462444], [42462531, 42462570]] None
ENST00000592253 [[42461305, 42461314], [42461452, 42461506], [42461678, 42461722], [42461905, 42461953], [42462315, 42462444], [42462531, 42462709]] None
ENST00000592944 [[42461688, 42461722], [42461905, 42461953], [42462315, 42462444], [42462531, 42462570], [42462649, 42462703], [42462918, 42463177]] None
NM_000419 [[42449548, 42449791], [42451721, 42451838], [42452026, 42452128], [42452365, 42452479], [42452958, 42453084], [42453200, 42453353], [42453452, 42453552], [42453675, 42453756], [42454376, 42454456], [42455065, 42455158], [42455729, 42455877], [42456010, 42456078], [42457056, 42457182], [42457369, 42457521], [42457613, 42457669], [42457753, 42457858], [42457967, 42458013], [42458246, 42458429], [42460860, 42461072], [42461261, 42461314], [42461452, 42461506], [42461678, 42461722], [42461905, 42461953], [42462315, 42462444], [42462531, 42462577], [42462653, 42462703], [42462918, 42463084], [42463191, 42463289], [42463377, 42463499], [42466653, 42466969]] [[42449731, 42449791], [42451721, 42451838], [42452026, 42452128], [42452365, 42452479], [42452958, 42453084], [42453200, 42453353], [42453452, 42453552], [42453675, 42453756], [42454376, 42454456], [42455065, 42455158], [42455729, 42455877], [42456010, 42456078], [42457056, 42457182], [42457369, 42457521], [42457613, 42457669], [42457753, 42457858], [42457967, 42458013], [42458246, 42458429], [42460860, 42461072], [42461261, 42461314], [42461452, 42461506], [42461678, 42461722], [42461905, 42461953], [42462315, 42462444], [42462531, 42462577], [42462653, 42462703], [42462918, 42463084], [42463191, 42463289], [42463377, 42463499], [42466653, 42466841]]
Promoter
Chrom Start End Description
chr17 42462703 42462743 CAGE_peak_4_at_ITGA2B_5end
chr17 42466864 42466880 CAGE_peak_1_at_ITGA2B_5end
chr17 42466942 42466947 CAGE_peak_6_at_ITGA2B_5end
chr17 42466963 42466982 CAGE_peak_3_at_ITGA2B_5end
chr17 42466993 42467000 CAGE_peak_7_at_ITGA2B_5end
chr17 42467001 42467024 CAGE_peak_2_at_ITGA2B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I044374 44374173 44376500 1.02 [{'connected_gene': 'ASB16', 'score': 11.17}, {'connected_gene': 'GRN', 'score': 9.58}, {'connected_gene': 'GC17M044369', 'score': 0.44}, {'connected_gene': 'ITGA2B', 'score': 0.39}]
chr17 GH17I044323 44323572 44327416 2.52 [{'connected_gene': 'SLC25A39', 'score': 572.43}, {'connected_gene': 'SLC4A1', 'score': 30.08}, {'connected_gene': 'UBTF', 'score': 2.45}, {'connected_gene': 'ASB16-AS1', 'score': 1.68}, {'connected_gene': 'ITGA2B', 'score': 1.56}, {'connected_gene': 'TMUB2', 'score': 1.36}, {'connected_gene': 'ENSG00000267211', 'score': 0.77}, {'connected_gene': 'GC17P044298', 'score': 0.31}, {'connected_gene': 'GC17P044299', 'score': 0.31}]
chr17 GH17I044389 44389495 44391044 1.6 [{'connected_gene': 'ITGA2B', 'score': 550.77}, {'connected_gene': 'ASB16-AS1', 'score': 23.8}, {'connected_gene': 'DHX8', 'score': 22.37}, {'connected_gene': 'UBTF', 'score': 12.86}, {'connected_gene': 'TMUB2', 'score': 12.33}, {'connected_gene': 'ENSG00000224505', 'score': 11.7}, {'connected_gene': 'FAM171A2', 'score': 11.69}, {'connected_gene': 'SLC25A39', 'score': 4.6}, {'connected_gene': 'HEXIM2', 'score': 4.58}, {'connected_gene': 'RN7SL258P', 'score': 0.37}]
chr17 GH17I044439 44438528 44438754 0.63 [{'connected_gene': 'ITGA2B', 'score': 11.3}, {'connected_gene': 'FAM171A2', 'score': 10.82}, {'connected_gene': 'SLC25A39', 'score': 4.96}, {'connected_gene': 'RN7SL258P', 'score': 0.31}, {'connected_gene': 'GC17P044475', 'score': 0.28}, {'connected_gene': 'GPATCH8', 'score': 0.21}]
chr17 GH17I044438 44438773 44439001 0.63 [{'connected_gene': 'ITGA2B', 'score': 11.3}, {'connected_gene': 'FAM171A2', 'score': 10.81}, {'connected_gene': 'RN7SL258P', 'score': 0.31}, {'connected_gene': 'GC17P044475', 'score': 0.28}, {'connected_gene': 'GPATCH8', 'score': 0.21}]
chr17 GH17I044384 44384888 44386184 1.4 [{'connected_gene': 'ITGA2B', 'score': 0.77}, {'connected_gene': 'GC17M044369', 'score': 0.37}]
chr17 GH17I044344 44344432 44349883 2.56 [{'connected_gene': 'GRN', 'score': 559.57}, {'connected_gene': 'UBTF', 'score': 25.03}, {'connected_gene': 'SLC25A39', 'score': 15.37}, {'connected_gene': 'MEOX1', 'score': 14.91}, {'connected_gene': 'C17orf53', 'score': 12.91}, {'connected_gene': 'RUNDC3A-AS1', 'score': 12.72}, {'connected_gene': 'TMUB2', 'score': 12.6}, {'connected_gene': 'MAP3K14-AS1', 'score': 12.02}, {'connected_gene': 'LSM12', 'score': 11.82}, {'connected_gene': 'RUNDC3A', 'score': 11.39}, {'connected_gene': 'ENSG00000221496', 'score': 11.38}, {'connected_gene': 'RNU6-453P', 'score': 11.38}, {'connected_gene': 'ASB16-AS1', 'score': 11.37}, {'connected_gene': 'ITGA2B', 'score': 11.3}, {'connected_gene': 'ENSG00000224505', 'score': 11.27}, {'connected_gene': 'SLC4A1', 'score': 11.03}, {'connected_gene': 'CD300LG', 'score': 10.56}, {'connected_gene': 'EFTUD2', 'score': 10.44}, {'connected_gene': 'DHX8', 'score': 10.15}, {'connected_gene': 'HEXIM2', 'score': 9.68}, {'connected_gene': 'GC17P044353', 'score': 0.44}, {'connected_gene': 'GC17P044352', 'score': 0.44}]
chr17 GH17I044392 44392818 44393854 0.94 [{'connected_gene': 'FAM171A2', 'score': 12.06}, {'connected_gene': 'MEIOC', 'score': 9.8}, {'connected_gene': 'ITGA2B', 'score': 0.77}, {'connected_gene': 'RN7SL258P', 'score': 0.37}]
chr17 GH17I044443 44443811 44445759 0.65 [{'connected_gene': 'GPATCH8', 'score': 11.48}, {'connected_gene': 'ITGA2B', 'score': 10.9}, {'connected_gene': 'GRN', 'score': 5.72}, {'connected_gene': 'SLC25A39', 'score': 5.51}, {'connected_gene': 'HEXIM2', 'score': 4.8}, {'connected_gene': 'GC17P044475', 'score': 0.29}, {'connected_gene': 'RN7SL258P', 'score': 0.28}]
chr17 GH17I044467 44467045 44467250 0.63 [{'connected_gene': 'GPATCH8', 'score': 11.49}, {'connected_gene': 'ITGA2B', 'score': 10.94}, {'connected_gene': 'MEIOC', 'score': 10.25}, {'connected_gene': 'GC17P044475', 'score': 0.44}, {'connected_gene': 'RN7SL258P', 'score': 0.22}]

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