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
ENST00000305097 [[152552735, 152555841]] [[152553571, 152554693]]
NM_002563 [[152552481, 152559228]] [[152553571, 152554693]]
Promoter
Chrom Start End Description
chr3 152552637 152552648 CAGE_peak_4_at_P2RY1_5end
chr3 152552655 152552680 CAGE_peak_3_at_P2RY1_5end
chr3 152552685 152552731 CAGE_peak_2_at_P2RY1_5end
chr3 152552911 152552926 CAGE_peak_1_at_P2RY1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I153283 153283426 153288196 1.52 [{'connected_gene': 'RAP2B', 'score': 19.2}, {'connected_gene': 'ENSG00000244268', 'score': 11.94}, {'connected_gene': 'P2RY1', 'score': 1.59}, {'connected_gene': 'LOC105374166', 'score': 0.29}, {'connected_gene': 'LOC105374164', 'score': 0.18}, {'connected_gene': 'GC03P153002', 'score': 0.06}]
chr3 GH03I153288 153288981 153290000 1.37 [{'connected_gene': 'RAP2B', 'score': 21.88}, {'connected_gene': 'ENSG00000244268', 'score': 12.07}, {'connected_gene': 'P2RY1', 'score': 2.45}, {'connected_gene': 'LOC105374166', 'score': 0.29}, {'connected_gene': 'LOC105374164', 'score': 0.17}, {'connected_gene': 'GC03P153002', 'score': 0.06}]
chr3 GH03I153292 153292802 153293940 1.19 [{'connected_gene': 'RAP2B', 'score': 7.04}, {'connected_gene': 'P2RY1', 'score': 1.79}, {'connected_gene': 'LOC105374166', 'score': 0.31}, {'connected_gene': 'LOC105374164', 'score': 0.17}, {'connected_gene': 'GC03P153002', 'score': 0.06}]
chr3 GH03I153246 153246590 153248399 0.81 [{'connected_gene': 'RAP2B', 'score': 27.06}, {'connected_gene': 'ENSG00000244268', 'score': 11.49}, {'connected_gene': 'P2RY1', 'score': 2.35}, {'connected_gene': 'LOC105374164', 'score': 0.26}, {'connected_gene': 'LOC105374166', 'score': 0.19}, {'connected_gene': 'GC03P153002', 'score': 0.07}]
chr3 GH03I153251 153250596 153250800 0.42 [{'connected_gene': 'RAP2B', 'score': 24.19}, {'connected_gene': 'ENSG00000244268', 'score': 11.41}, {'connected_gene': 'P2RY1', 'score': 2.13}, {'connected_gene': 'LOC105374164', 'score': 0.25}, {'connected_gene': 'LOC105374166', 'score': 0.2}, {'connected_gene': 'GC03P153002', 'score': 0.07}]
chr3 GH03I153245 153245111 153245293 0.37 [{'connected_gene': 'RAP2B', 'score': 20.66}, {'connected_gene': 'ENSG00000244268', 'score': 11.04}, {'connected_gene': 'P2RY1', 'score': 1.98}, {'connected_gene': 'LOC105374164', 'score': 0.26}, {'connected_gene': 'LOC105374166', 'score': 0.18}, {'connected_gene': 'GC03P153002', 'score': 0.07}]
chr3 GH03I153158 153158940 153167942 2.65 [{'connected_gene': 'RAP2B', 'score': 559.97}, {'connected_gene': 'ENSG00000244268', 'score': 550.77}, {'connected_gene': 'P2RY1', 'score': 1.15}, {'connected_gene': 'GC03P153191', 'score': 0.31}, {'connected_gene': 'GC03P153002', 'score': 0.1}]
chr3 GH03I152865 152865703 152866081 0.56 [{'connected_gene': 'RAP2B', 'score': 6.8}, {'connected_gene': 'P2RY1', 'score': 2.67}, {'connected_gene': 'GC03P152840', 'score': 0.31}, {'connected_gene': 'GC03P153002', 'score': 0.12}]
chr3 GH03I152857 152857123 152857514 0.87 [{'connected_gene': 'P2RY1', 'score': 14.52}, {'connected_gene': 'RAP2B', 'score': 5.49}, {'connected_gene': 'GC03P152840', 'score': 0.37}, {'connected_gene': 'GC03P153002', 'score': 0.11}]
chr3 GH03I152691 152691803 152691956 0.25 [{'connected_gene': 'P2RY1', 'score': 10.71}, {'connected_gene': 'PIR32822', 'score': 0.44}, {'connected_gene': 'LOC102724289', 'score': 0.26}, {'connected_gene': 'GC03M152802', 'score': 0.14}]
chr3 GH03I152721 152721072 152721221 0.2 [{'connected_gene': 'P2RY1', 'score': 10.45}, {'connected_gene': 'PIR32822', 'score': 0.28}, {'connected_gene': 'LOC102724289', 'score': 0.19}, {'connected_gene': 'GC03M152802', 'score': 0.18}]
chr3 GH03I152603 152603043 152603798 0.43 [{'connected_gene': 'P2RY1', 'score': 8.86}, {'connected_gene': 'GC03P152593', 'score': 0.44}, {'connected_gene': 'LOC102724289', 'score': 0.26}]
chr3 GH03I152656 152656173 152658023 0.95 [{'connected_gene': 'P2RY1', 'score': 5.38}, {'connected_gene': 'LOC102724289', 'score': 0.44}, {'connected_gene': 'PIR32822', 'score': 0.31}]
chr3 GH03I152609 152609397 152611233 0.43 [{'connected_gene': 'P2RY1', 'score': 15.5}, {'connected_gene': 'GC03P152593', 'score': 0.37}, {'connected_gene': 'LOC102724289', 'score': 0.28}]
chr3 GH03I152872 152872001 152872200 0.2 [{'connected_gene': 'P2RY1', 'score': 11.04}, {'connected_gene': 'GC03P152840', 'score': 0.29}, {'connected_gene': 'GC03P153002', 'score': 0.12}]
chr3 GH03I152834 152834168 152837801 1.97 [{'connected_gene': 'P2RY1', 'score': 550.77}, {'connected_gene': 'GC03P152840', 'score': 0.77}]
chr3 GH03I152839 152839201 152839400 0.2 [{'connected_gene': 'GC03P152840', 'score': 550.77}, {'connected_gene': 'P2RY1', 'score': 0.77}]

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