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
ENST00000394942 [[64063756, 64066691], [64108521, 64108579]] [[64065496, 64066660]]
ENST00000267522 [[64065219, 64066691], [64091645, 64091751], [64108016, 64108125]] [[64065496, 64066660]]
ENST00000554717 [[64065980, 64066691], [64091645, 64091751], [64108016, 64108125], [64108521, 64108571]] [[64065980, 64066660]]
NM_001258272 [[64063756, 64066691], [64091645, 64091751], [64108016, 64108641]] [[64065496, 64066660]]
NM_001008726 [[64063756, 64066691], [64091645, 64091751], [64108016, 64108125], [64108521, 64108641]] [[64065496, 64066660]]
NM_080666 [[64063756, 64066691], [64091645, 64091751], [64108521, 64108641]] [[64065496, 64066660]]
Promoter
Chrom Start End Description
chr14 64108203 64108217 CAGE_peak_2_at_WDR89_5end
chr14 64108359 64108365 CAGE_peak_9_at_WDR89_5end
chr14 64108537 64108597 CAGE_peak_1_at_WDR89_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH14I064324 64324470 64325484 0.67 [{'connected_gene': 'ZBTB25', 'score': 16.12}, {'connected_gene': 'ENSG00000214770', 'score': 13.59}, {'connected_gene': 'WDR89', 'score': 12.62}, {'connected_gene': 'ZBTB1', 'score': 9.9}, {'connected_gene': 'GC14M064323', 'score': 0.77}, {'connected_gene': 'ESR2', 'score': 0.39}, {'connected_gene': 'PIR41332', 'score': 0.15}]
chr14 GH14I063362 63362291 63363307 0.66 [{'connected_gene': 'KCNH5', 'score': 5.42}, {'connected_gene': 'PPP2R5E', 'score': 4.78}, {'connected_gene': 'GPHB5', 'score': 2.03}, {'connected_gene': 'WDR89', 'score': 1.55}, {'connected_gene': 'GC14P063451', 'score': 0.17}]
chr14 GH14I063852 63852343 63858827 2.61 [{'connected_gene': 'SYNE2', 'score': 581.52}, {'connected_gene': 'ENSG00000258824', 'score': 11.28}, {'connected_gene': 'WDR89', 'score': 10.09}, {'connected_gene': 'ENSG00000214770', 'score': 9.75}, {'connected_gene': 'PPP2R5E', 'score': 1.94}, {'connected_gene': 'GC14P064073', 'score': 0.08}]
chr14 GH14I063633 63633023 63633172 0.6 [{'connected_gene': 'ESR2', 'score': 4.47}, {'connected_gene': 'RNU6-1162P', 'score': 0.77}, {'connected_gene': 'WDR89', 'score': 0.44}]
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 GH14I063752 63752697 63753365 0.82 [{'connected_gene': 'WDR89', 'score': 5.49}, {'connected_gene': 'ENSG00000258411', 'score': 0.44}, {'connected_gene': 'RNU7-116P', 'score': 0.37}]
chr14 GH14I063639 63639930 63643660 2.32 [{'connected_gene': 'WDR89', 'score': 557.54}, {'connected_gene': 'LOC105370532', 'score': 550.77}, {'connected_gene': 'ZBTB1', 'score': 26.79}, {'connected_gene': 'LOC102723809', 'score': 23.02}, {'connected_gene': 'GCATP1', 'score': 4.71}, {'connected_gene': 'SYNE2', 'score': 1.72}, {'connected_gene': 'RNU6-1162P', 'score': 0.39}]
chr14 GH14I063647 63647466 63648200 0.52 [{'connected_gene': 'WDR89', 'score': 4.9}, {'connected_gene': 'ENSG00000200693', 'score': 0.77}, {'connected_gene': 'GC14M063652', 'score': 0.77}, {'connected_gene': 'LOC105370532', 'score': 0.44}]
chr14 GH14I064538 64538294 64543199 2.18 [{'connected_gene': 'LOC102723809', 'score': 574.55}, {'connected_gene': 'HSPA2', 'score': 550.77}, {'connected_gene': 'ZBTB25', 'score': 22.78}, {'connected_gene': 'ZBTB1', 'score': 21.64}, {'connected_gene': 'PPP1R36', 'score': 13.91}, {'connected_gene': 'ENSG00000214770', 'score': 11.72}, {'connected_gene': 'GCATP1', 'score': 11.12}, {'connected_gene': 'WDR89', 'score': 11.08}, {'connected_gene': 'SYNE2', 'score': 10.13}, {'connected_gene': 'PLEKHG3', 'score': 8.23}]
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 GH14I063648 63648777 63652013 0.96 [{'connected_gene': 'ENSG00000200693', 'score': 550.77}, {'connected_gene': 'GC14M063652', 'score': 550.77}, {'connected_gene': 'WDR89', 'score': 10.84}, {'connected_gene': 'SYNE2', 'score': 8.77}, {'connected_gene': 'LOC105370532', 'score': 0.44}]
chr14 GH14I063615 63615003 63615232 0.38 [{'connected_gene': 'GC14P063619', 'score': 0.77}, {'connected_gene': 'GC14P063602', 'score': 0.39}, {'connected_gene': 'WDR89', 'score': 0.31}]
chr14 GH14I063616 63615600 63615800 0.2 [{'connected_gene': 'GC14P063619', 'score': 0.77}, {'connected_gene': 'GC14P063602', 'score': 0.39}, {'connected_gene': 'WDR89', 'score': 0.31}]