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
ENST00000558721 [[59887073, 59887113], [59888492, 59888553], [59901933, 59902067], [59904100, 59904180], [59908890, 59909080], [59910377, 59910421]] None
ENST00000560874 [[59887927, 59888112], [59888441, 59888553], [59901933, 59902067], [59904100, 59904180], [59908890, 59908938]] None
ENST00000560580 [[59891841, 59891910], [59901933, 59902067], [59904100, 59904180], [59907246, 59907407], [59908890, 59909008]] None
ENST00000560111 [[59891851, 59891910], [59901933, 59902067], [59903590, 59903875]] None
ENST00000559189 [[59891875, 59891910], [59901933, 59902067], [59904100, 59904180], [59908890, 59909080], [59910377, 59910699]] [[59910437, 59910699]]
ENST00000560585 [[59903982, 59904180], [59908748, 59909080], [59910377, 59912207]] [[59910437, 59911754]]
ENST00000396065 [[59903982, 59904180], [59908890, 59909080], [59910377, 59913023]] [[59910437, 59911754]]
ENST00000559626 [[59908632, 59909080], [59910377, 59910597]] [[59910437, 59910597]]
ENST00000560210 [[59908729, 59909080], [59932288, 59932438]] None
ENST00000559200 [[59910137, 59910285], [59910377, 59910896]] [[59910437, 59910896]]
NM_004751 [[59903981, 59904180], [59908890, 59909080], [59910377, 59912210]] [[59910437, 59911754]]
Promoter
Chrom Start End Description
chr15 59903975 59903992 CAGE_peak_1_at_GCNT3_5end
chr15 59903999 59904006 CAGE_peak_13_at_GCNT3_5end
chr15 59904021 59904030 CAGE_peak_8_at_GCNT3_5end
chr15 59904033 59904043 CAGE_peak_14_at_GCNT3_5end
chr15 59904045 59904065 CAGE_peak_3_at_GCNT3_5end
chr15 59904077 59904099 CAGE_peak_2_at_GCNT3_5end
chr15 59904110 59904119 CAGE_peak_11_at_GCNT3_5end
chr15 59908653 59908680 CAGE_peak_4_at_GCNT3_5end
chr15 59908698 59908705 CAGE_peak_22_at_GCNT3_5end
chr15 59908719 59908730 CAGE_peak_6_at_GCNT3_5end
chr15 59908741 59908754 CAGE_peak_12_at_GCNT3_5end
chr15 59908762 59908770 CAGE_peak_18_at_GCNT3_5end
chr15 59908801 59908817 CAGE_peak_10_at_GCNT3_5end
chr15 59908820 59908829 CAGE_peak_20_at_GCNT3_5end
chr15 59908840 59908861 CAGE_peak_7_at_GCNT3_5end
chr15 59908870 59908880 CAGE_peak_21_at_GCNT3_5end
chr15 59908915 59908930 CAGE_peak_5_at_GCNT3_5end
chr15 59908955 59908965 CAGE_peak_16_at_GCNT3_5end
chr15 59909013 59909022 CAGE_peak_19_at_GCNT3_5end
chr15 59910132 59910144 CAGE_peak_9_at_GCNT3_5end
chr15 59910171 59910184 CAGE_peak_15_at_GCNT3_5end
chr15 59910206 59910219 CAGE_peak_17_at_GCNT3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I059553 59553738 59557199 1.57 [{'connected_gene': 'GCNT3', 'score': 2.39}, {'connected_gene': 'RPL21P117', 'score': 0.77}, {'connected_gene': 'GC15M059576', 'score': 0.37}, {'connected_gene': 'RNA5SP396', 'score': 0.37}]
chr15 GH15I059611 59611209 59613406 1.68 [{'connected_gene': 'GCNT3', 'score': 550.37}, {'connected_gene': 'GTF2A2', 'score': 20.23}, {'connected_gene': 'GC15M059584', 'score': 0.37}, {'connected_gene': 'GC15P059642', 'score': 0.31}]
chr15 GH15I059586 59586937 59588218 0.77 [{'connected_gene': 'ICE2', 'score': 39.0}, {'connected_gene': 'SLTM', 'score': 23.72}, {'connected_gene': 'MINDY2', 'score': 21.06}, {'connected_gene': 'RPS3AP6', 'score': 20.16}, {'connected_gene': 'GC15M059584', 'score': 0.44}, {'connected_gene': 'GCNT3', 'score': 0.44}, {'connected_gene': 'GC15M059575', 'score': 0.39}]
chr15 GH15I059270 59270779 59287092 1.62 [{'connected_gene': 'MYO1E', 'score': 15.98}, {'connected_gene': 'FAM81A', 'score': 10.85}, {'connected_gene': 'MIR2116', 'score': 10.12}, {'connected_gene': 'ENSG00000259250', 'score': 4.93}, {'connected_gene': 'GCNT3', 'score': 1.21}, {'connected_gene': 'GC15M059271', 'score': 0.44}, {'connected_gene': 'ENSG00000259771', 'score': 0.44}, {'connected_gene': 'GC15M059344', 'score': 0.21}]
chr15 GH15I059614 59614519 59616901 1.09 [{'connected_gene': 'GTF2A2', 'score': 10.45}, {'connected_gene': 'GC15M059584', 'score': 0.37}, {'connected_gene': 'GCNT3', 'score': 0.34}, {'connected_gene': 'GC15P059642', 'score': 0.31}]
chr15 GH15I059609 59609524 59610268 0.38 [{'connected_gene': 'GC15M059584', 'score': 0.39}, {'connected_gene': 'GCNT3', 'score': 0.37}, {'connected_gene': 'GC15P059642', 'score': 0.29}]
chr15 GH15I059622 59622402 59622551 0.74 [{'connected_gene': 'GC15P059642', 'score': 0.37}, {'connected_gene': 'GC15M059584', 'score': 0.31}, {'connected_gene': 'GCNT3', 'score': 0.31}]
chr15 GH15I059593 59593807 59597052 1.19 [{'connected_gene': 'GC15M059584', 'score': 550.77}, {'connected_gene': 'GCNT3', 'score': 550.77}]
chr15 GH15I059582 59582642 59583541 0.2 [{'connected_gene': 'GC15M059575', 'score': 0.44}, {'connected_gene': 'GCNT3', 'score': 0.39}]
chr15 GH15I059590 59590994 59591931 0.58 [{'connected_gene': 'GC15M059584', 'score': 0.77}, {'connected_gene': 'GCNT3', 'score': 0.77}, {'connected_gene': 'GC15M059575', 'score': 0.37}]