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
ENST00000247225 [[64150931, 64153374], [64165286, 64165376], [64193978, 64194757]] [[64152822, 64153374], [64165286, 64165376], [64193978, 64194662]]
NM_030791 [[64150933, 64153374], [64165286, 64165376], [64193978, 64194813]] [[64152822, 64153374], [64165286, 64165376], [64193978, 64194662]]
Promoter
Chrom Start End Description
chr14 64194745 64194799 CAGE_peak_1_at_SGPP1_5end
chr14 64194979 64194990 CAGE_peak_5_at_SGPP1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I063469 63469734 63473799 1.13 [{'connected_gene': 'SGPP1', 'score': 9.88}, {'connected_gene': 'RNU7-116P', 'score': 9.88}, {'connected_gene': 'GC14P063463', 'score': 0.44}, {'connected_gene': 'ENSG00000252800', 'score': 0.44}, {'connected_gene': 'GC14P063451', 'score': 0.34}, {'connected_gene': 'PPP2R5E', 'score': 0.19}]
chr14 GH14I063473 63473946 63474669 0.49 [{'connected_gene': 'SGPP1', 'score': 9.88}, {'connected_gene': 'RNU7-116P', 'score': 9.88}, {'connected_gene': 'ENSG00000252800', 'score': 0.77}, {'connected_gene': 'GC14P063463', 'score': 0.39}, {'connected_gene': 'GC14P063451', 'score': 0.34}, {'connected_gene': 'PPP2R5E', 'score': 0.2}]
chr14 GH14I063704 63704782 63706368 0.74 [{'connected_gene': 'SGPP1', 'score': 12.43}, {'connected_gene': 'RNU7-116P', 'score': 12.38}, {'connected_gene': 'WDR89', 'score': 5.54}, {'connected_gene': 'GC14P063658', 'score': 0.25}]
chr14 GH14I063664 63664183 63664332 0.62 [{'connected_gene': 'SGPP1', 'score': 11.33}, {'connected_gene': 'RNU7-116P', 'score': 11.31}, {'connected_gene': 'GC14P063658', 'score': 0.44}]
chr14 GH14I063701 63701723 63701872 0.63 [{'connected_gene': 'SGPP1', 'score': 12.4}, {'connected_gene': 'RNU7-116P', 'score': 12.38}, {'connected_gene': 'GC14P063658', 'score': 0.26}]
chr14 GH14I063663 63663543 63663692 0.43 [{'connected_gene': 'SGPP1', 'score': 11.33}, {'connected_gene': 'RNU7-116P', 'score': 11.31}, {'connected_gene': 'GC14P063658', 'score': 0.77}]
chr14 GH14I063725 63725034 63728972 1.97 [{'connected_gene': 'SGPP1', 'score': 550.77}, {'connected_gene': 'ENSG00000200693', 'score': 11.74}, {'connected_gene': 'GC14P063658', 'score': 0.2}]
chr14 GH14I063714 63713823 63713972 0.76 [{'connected_gene': 'SGPP1', 'score': 0.39}, {'connected_gene': 'GC14P063658', 'score': 0.22}]
chr14 GH14I063908 63908601 63909200 0.2 [{'connected_gene': 'SYNE2', 'score': 11.36}, {'connected_gene': 'ENSG00000202182', 'score': 11.34}, {'connected_gene': 'RNU7-116P', 'score': 9.77}, {'connected_gene': 'SGPP1', 'score': 9.77}, {'connected_gene': 'GC14P064073', 'score': 0.1}]
chr14 GH14I063745 63745648 63749706 1.29 [{'connected_gene': 'WDR89', 'score': 4.67}, {'connected_gene': 'SGPP1', 'score': 2.01}, {'connected_gene': 'ENSG00000258411', 'score': 0.39}, {'connected_gene': 'RNU7-116P', 'score': 0.39}]
chr14 GH14I063764 63764243 63764392 0.77 [{'connected_gene': 'RNU7-116P', 'score': 12.61}, {'connected_gene': 'SGPP1', 'score': 12.58}, {'connected_gene': 'ENSG00000202182', 'score': 10.37}, {'connected_gene': 'SYNE2', 'score': 10.36}, {'connected_gene': 'ENSG00000258411', 'score': 0.77}, {'connected_gene': 'HMGN2P14', 'score': 0.31}]
chr14 GH14I063770 63770323 63770472 0.54 [{'connected_gene': 'RNU7-116P', 'score': 12.43}, {'connected_gene': 'SGPP1', 'score': 12.4}, {'connected_gene': 'ENSG00000200693', 'score': 11.37}, {'connected_gene': 'RNU6-1162P', 'score': 11.25}, {'connected_gene': 'ENSG00000252800', 'score': 10.15}, {'connected_gene': 'ENSG00000258411', 'score': 0.44}, {'connected_gene': 'HMGN2P14', 'score': 0.34}]
chr14 GH14I063713 63713083 63713232 0.31 [{'connected_gene': 'RNU7-116P', 'score': 12.85}, {'connected_gene': 'SGPP1', 'score': 0.39}, {'connected_gene': 'GC14P063658', 'score': 0.23}]
chr14 GH14I063675 63675735 63679245 1.15 [{'connected_gene': 'ENSG00000200693', 'score': 12.73}, {'connected_gene': 'ENSG00000214770', 'score': 11.55}, {'connected_gene': 'SGPP1', 'score': 11.45}, {'connected_gene': 'TEX21P', 'score': 11.44}, {'connected_gene': 'RNU7-116P', 'score': 11.44}, {'connected_gene': 'ZBTB25', 'score': 10.24}, {'connected_gene': 'SYNE2', 'score': 9.88}, {'connected_gene': 'ENSG00000202182', 'score': 9.88}, {'connected_gene': 'WDR89', 'score': 5.7}, {'connected_gene': 'GC14P063658', 'score': 0.37}]
chr14 GH14I063718 63718737 63719046 0.28 [{'connected_gene': 'ENSG00000200693', 'score': 11.77}, {'connected_gene': 'SGPP1', 'score': 3.5}, {'connected_gene': 'SYNE2', 'score': 1.56}, {'connected_gene': 'PPP2R5E', 'score': 1.55}, {'connected_gene': 'WDR89', 'score': 1.38}, {'connected_gene': 'GC14P063658', 'score': 0.21}]
chr14 GH14I063621 63621696 63622608 0.31 [{'connected_gene': 'GC14P063622', 'score': 550.77}, {'connected_gene': 'ENSG00000206822', 'score': 550.77}, {'connected_gene': 'SGPP1', 'score': 11.25}, {'connected_gene': 'RNU7-116P', 'score': 11.24}, {'connected_gene': 'GC14P063631', 'score': 0.44}, {'connected_gene': 'WDR89', 'score': 0.37}]
chr14 GH14I063655 63655432 63657376 0.46 [{'connected_gene': 'GC14M063656', 'score': 550.77}, {'connected_gene': 'SGPP1', 'score': 10.83}, {'connected_gene': 'RNU7-116P', 'score': 10.81}, {'connected_gene': 'ENSG00000200693', 'score': 0.77}, {'connected_gene': 'GC14M063652', 'score': 0.77}]
chr14 GH14I063673 63672803 63673311 0.64 [{'connected_gene': 'ENSG00000200693', 'score': 12.75}, {'connected_gene': 'GC14P063658', 'score': 0.39}, {'connected_gene': 'SGPP1', 'score': 0.22}]
chr14 GH14I063666 63666483 63666632 0.46 [{'connected_gene': 'GC14P063658', 'score': 0.44}, {'connected_gene': 'SGPP1', 'score': 0.21}]
chr14 GH14I063672 63672576 63672612 0.43 [{'connected_gene': 'ENSG00000200693', 'score': 12.75}, {'connected_gene': 'GC14P063658', 'score': 0.39}, {'connected_gene': 'SGPP1', 'score': 0.22}]
chr14 GH14I063541 63541800 63544801 2.03 [{'connected_gene': 'ENSG00000261242', 'score': 550.77}, {'connected_gene': 'PPP2R5E', 'score': 550.77}, {'connected_gene': 'LOC102723809', 'score': 23.02}, {'connected_gene': 'ENSG00000252800', 'score': 10.87}, {'connected_gene': 'SGPP1', 'score': 10.27}, {'connected_gene': 'RNU7-116P', 'score': 10.26}, {'connected_gene': 'ZBTB1', 'score': 9.65}]
chr14 GH14I063435 63435321 63438947 1.01 [{'connected_gene': 'ENSG00000252800', 'score': 11.69}, {'connected_gene': 'RNU7-116P', 'score': 10.08}, {'connected_gene': 'SGPP1', 'score': 10.08}, {'connected_gene': 'PPP2R5E', 'score': 5.11}, {'connected_gene': 'GC14P063451', 'score': 0.39}, {'connected_gene': 'GPHB5', 'score': 0.13}]