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
ENST00000336615 [[818901, 818958], [819573, 819905], [821627, 821860], [821957, 822023], [822396, 822606], [823526, 823587], [823693, 823855], [823997, 824130], [824313, 824436], [824522, 825573]] [[819718, 819905], [821627, 821860], [821957, 822023], [822396, 822606], [823526, 823587], [823693, 823855], [823997, 824130], [824313, 824436], [824522, 824862]]
ENST00000525250 [[820834, 821860], [821957, 822023], [822396, 822606], [823526, 824130], [824313, 824436], [824522, 825219]] None
ENST00000534561 [[821773, 821860], [821957, 822258]] None
ENST00000531923 [[822015, 822606], [823526, 823572]] None
ENST00000529255 [[823542, 823587], [823693, 824130], [824313, 824436], [824522, 825218]] None
ENST00000526083 [[823647, 823855], [823997, 824130], [824313, 824437]] None
NM_020376 [[818900, 818958], [819573, 819905], [821627, 821860], [821957, 822023], [822396, 822606], [823526, 823587], [823693, 823855], [823997, 824130], [824313, 824436], [824522, 825573]] [[819718, 819905], [821627, 821860], [821957, 822023], [822396, 822606], [823526, 823587], [823693, 823855], [823997, 824130], [824313, 824436], [824522, 824862]]
Promoter
Chrom Start End Description
chr11 818906 818924 CAGE_peak_2_at_PNPLA2_5end
chr11 819562 819579 CAGE_peak_1_at_PNPLA2_5end
chr11 819601 819612 CAGE_peak_3_at_PNPLA2_5end
chr11 821664 821701 CAGE_peak_7_at_PNPLA2_5end
chr11 821771 821791 CAGE_peak_6_at_PNPLA2_5end
chr11 821805 821820 CAGE_peak_4_at_PNPLA2_5end
chr11 821969 822000 CAGE_peak_9_at_PNPLA2_5end
chr11 822386 822401 CAGE_peak_10_at_PNPLA2_5end
chr11 822471 822487 CAGE_peak_8_at_PNPLA2_5end
chr11 823694 823744 CAGE_peak_5_at_PNPLA2_5end
chr11 823785 823798 CAGE_peak_11_at_PNPLA2_5end
chr11 823806 823819 CAGE_peak_19_at_PNPLA2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I000818 818246 822879 2.19 [{'connected_gene': 'PNPLA2', 'score': 556.24}, {'connected_gene': 'RPLP2', 'score': 30.33}, {'connected_gene': 'ENSG00000255108', 'score': 28.08}, {'connected_gene': 'LOC171391', 'score': 24.57}, {'connected_gene': 'TMEM80', 'score': 14.5}, {'connected_gene': 'RIC8A', 'score': 12.89}, {'connected_gene': 'BET1L', 'score': 11.78}, {'connected_gene': 'SNORA52', 'score': 11.23}, {'connected_gene': 'PHRF1', 'score': 9.74}, {'connected_gene': 'CRACR2B', 'score': 7.74}, {'connected_gene': 'CD151', 'score': 5.58}, {'connected_gene': 'GC11M000811', 'score': 0.77}]
chr11 GH11I000824 824121 830480 2.19 [{'connected_gene': 'CRACR2B', 'score': 559.51}, {'connected_gene': 'PIR51142', 'score': 550.77}, {'connected_gene': 'CD151', 'score': 41.24}, {'connected_gene': 'ENSG00000255108', 'score': 27.84}, {'connected_gene': 'RPLP2', 'score': 21.01}, {'connected_gene': 'LOC171391', 'score': 6.85}, {'connected_gene': 'CHID1', 'score': 4.87}, {'connected_gene': 'POLR2L', 'score': 4.69}, {'connected_gene': 'B4GALNT4', 'score': 4.26}, {'connected_gene': 'PNPLA2', 'score': 0.44}]

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