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
ENST00000445930 [[53173889, 53174022], [53175026, 53175106], [53175200, 53175240], [53175481, 53175534], [53177818, 53177886], [53178127, 53178242], [53180598, 53180686], [53184798, 53184860], [53184946, 53185070], [53185694, 53185756], [53187578, 53187699], [53187827, 53187908], [53190682, 53190754], [53194216, 53195305]] [[53173895, 53174022], [53175026, 53175106], [53175200, 53175240], [53175481, 53175534], [53177818, 53177886], [53178127, 53178242], [53180598, 53180686], [53184798, 53184860], [53184946, 53185070], [53185694, 53185756], [53187578, 53187699], [53187827, 53187908], [53190682, 53190754], [53194216, 53194335]]
ENST00000555887 [[53173895, 53174022], [53175026, 53175106], [53175200, 53175240], [53175481, 53175807]] None
ENST00000458604 [[53173901, 53174022], [53175200, 53175240], [53175481, 53175534], [53177818, 53177886], [53178127, 53178242], [53180598, 53180686], [53184798, 53185406]] None
ENST00000557240 [[53173909, 53174022], [53175026, 53175106], [53175200, 53175240], [53175481, 53175534], [53178127, 53178242], [53180598, 53180686], [53184798, 53184860], [53184946, 53185020]] [[53173937, 53174022], [53175026, 53175106], [53175200, 53175240], [53175481, 53175534], [53178127, 53178163]]
ENST00000554956 [[53173918, 53174022], [53175026, 53175106], [53175200, 53175551]] None
ENST00000554952 [[53173919, 53174022], [53175026, 53175106], [53175200, 53175240], [53175481, 53175534], [53176292, 53177053]] None
ENST00000553899 [[53173919, 53174247], [53175026, 53175106], [53175200, 53175240], [53175481, 53175534], [53177818, 53177886], [53178127, 53178242], [53180598, 53180620]] [[53173937, 53174048]]
ENST00000606149 [[53173921, 53174022], [53175026, 53175106], [53175200, 53175240], [53175481, 53175534], [53177818, 53177886], [53178127, 53178242], [53180598, 53180686], [53184798, 53184860], [53184946, 53185070], [53185694, 53185756], [53187578, 53187699], [53187827, 53187908], [53190682, 53190754], [53194216, 53194709]] [[53173937, 53174022], [53175026, 53175106], [53175200, 53175240], [53175481, 53175534], [53177818, 53177886], [53178127, 53178242], [53180598, 53180686], [53184798, 53184860], [53184946, 53185070], [53185694, 53185756], [53187578, 53187699], [53187827, 53187908], [53190682, 53190754], [53194216, 53194335]]
ENST00000554044 [[53173926, 53174022], [53175026, 53175106], [53175200, 53175424], [53177818, 53177886], [53178127, 53178242], [53180598, 53180686], [53184798, 53184860], [53184946, 53185057]] [[53173937, 53174022], [53175026, 53175106], [53175200, 53175248]]
ENST00000555339 [[53173936, 53174022], [53175481, 53175534], [53177818, 53177886], [53178127, 53178242], [53180598, 53180686], [53184798, 53184860], [53184946, 53185057]] [[53173937, 53174022], [53175481, 53175534], [53177818, 53177886], [53178127, 53178242], [53180598, 53180686], [53184798, 53184860], [53184946, 53185057]]
ENST00000556813 [[53173939, 53174022], [53175026, 53175106], [53175200, 53175240], [53175481, 53175534], [53177818, 53177886], [53178127, 53178242], [53180598, 53180686], [53184798, 53184860], [53184946, 53185070], [53190682, 53190754]] [[53173939, 53174022], [53175026, 53175106], [53175200, 53175240], [53175481, 53175534], [53177818, 53177886], [53178127, 53178242], [53180598, 53180686], [53184798, 53184860], [53184946, 53185070], [53190682, 53190754]]
ENST00000553798 [[53173948, 53174247], [53175026, 53175106], [53175200, 53175384]] [[53173948, 53174048]]
ENST00000557517 [[53174004, 53174247], [53175026, 53175106], [53175200, 53175424], [53176292, 53176325]] [[53174004, 53174048]]
ENST00000557085 [[53177263, 53177886], [53178127, 53178242], [53180598, 53180750]] None
ENST00000555175 [[53184948, 53185070], [53185694, 53185756], [53190682, 53190754], [53194216, 53194712]] [[53184948, 53185070], [53185694, 53185756], [53190682, 53190700]]
ENST00000551328 [[53185224, 53185756], [53187578, 53187696]] None
ENST00000557557 [[53188217, 53190592], [53190682, 53190754], [53194216, 53194708]] None
ENST00000557632 [[53190462, 53190754], [53194216, 53194535]] None
NM_002806 [[53173895, 53174022], [53175026, 53175106], [53175200, 53175240], [53175481, 53175534], [53177818, 53177886], [53178127, 53178242], [53180598, 53180686], [53184798, 53184860], [53184946, 53185070], [53185694, 53185756], [53187578, 53187699], [53187827, 53187908], [53190682, 53190754], [53194216, 53194716]] [[53173895, 53174022], [53175026, 53175106], [53175200, 53175240], [53175481, 53175534], [53177818, 53177886], [53178127, 53178242], [53180598, 53180686], [53184798, 53184860], [53184946, 53185070], [53185694, 53185756], [53187578, 53187699], [53187827, 53187908], [53190682, 53190754], [53194216, 53194335]]
Promoter
Chrom Start End Description
chr14 53173896 53173907 CAGE_peak_2_at_PSMC6_5end
chr14 53173910 53173939 CAGE_peak_1_at_PSMC6_5end
chr14 53190525 53190534 CAGE_peak_4_at_PSMC6_5end
chr14 53190537 53190545 CAGE_peak_3_at_PSMC6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I052702 52702843 52704176 0.79 [{'connected_gene': 'STYX', 'score': 25.07}, {'connected_gene': 'PSMC6', 'score': 0.77}, {'connected_gene': 'ERO1A', 'score': 0.44}]
chr14 GH14I052740 52740645 52743999 0.69 [{'connected_gene': 'STYX', 'score': 24.42}, {'connected_gene': 'PSMC6', 'score': 11.34}, {'connected_gene': 'ERO1A', 'score': 10.99}, {'connected_gene': 'ENSG00000259049', 'score': 0.29}]
chr14 GH14I052699 52699544 52702179 0.98 [{'connected_gene': 'STYX', 'score': 29.47}, {'connected_gene': 'ERO1A', 'score': 5.93}, {'connected_gene': 'PSMC6', 'score': 0.44}]
chr14 GH14I052706 52706117 52708531 1.98 [{'connected_gene': 'PSMC6', 'score': 550.77}, {'connected_gene': 'STYX', 'score': 22.8}]
chr14 GH14I052693 52693623 52699109 1.92 [{'connected_gene': 'ERO1A', 'score': 576.63}, {'connected_gene': 'STYX', 'score': 16.54}, {'connected_gene': 'PSMC6', 'score': 0.39}]
chr14 GH14I051979 51979203 51979352 0.88 [{'connected_gene': 'LOC105370500', 'score': 11.3}, {'connected_gene': 'FRMD6', 'score': 10.74}, {'connected_gene': 'PSMC6', 'score': 9.75}, {'connected_gene': 'TMX1', 'score': 9.67}, {'connected_gene': 'LOC105370497', 'score': 0.44}, {'connected_gene': 'ENSG00000259007', 'score': 0.44}, {'connected_gene': 'GNG2', 'score': 0.1}]
chr14 GH14I051980 51979001 51979201 0.86 [{'connected_gene': 'LOC105370500', 'score': 11.3}, {'connected_gene': 'FRMD6', 'score': 10.74}, {'connected_gene': 'PSMC6', 'score': 9.75}, {'connected_gene': 'TMX1', 'score': 9.67}, {'connected_gene': 'LOC105370497', 'score': 0.44}, {'connected_gene': 'ENSG00000259007', 'score': 0.44}, {'connected_gene': 'GNG2', 'score': 0.1}]
chr14 GH14I053278 53278801 53279852 0.85 [{'connected_gene': 'LOC101927620', 'score': 15.11}, {'connected_gene': 'LOC105370500', 'score': 13.35}, {'connected_gene': 'BMP4', 'score': 12.84}, {'connected_gene': 'ENSG00000237356', 'score': 12.81}, {'connected_gene': 'PSMC6', 'score': 9.73}, {'connected_gene': 'GC14M053236', 'score': 0.31}, {'connected_gene': 'PIR59222', 'score': 0.25}]