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
ENST00000370872 [[75171169, 75172141], [75172582, 75172678], [75172786, 75172888], [75175781, 75175931], [75180262, 75180314], [75188801, 75188954], [75198639, 75198702]] [[75171979, 75172141], [75172582, 75172678], [75172786, 75172888], [75175781, 75175931], [75180262, 75180314], [75188801, 75188818]]
ENST00000340866 [[75171169, 75172141], [75172582, 75172678], [75172786, 75172888], [75175781, 75175931], [75180262, 75180314], [75184892, 75185056], [75188801, 75188954], [75190394, 75190518], [75198639, 75198714]] [[75171979, 75172141], [75172582, 75172678], [75172786, 75172888], [75175781, 75175931], [75180262, 75180314], [75184892, 75185056], [75188801, 75188954], [75190394, 75190505]]
ENST00000492102 [[75171171, 75172141], [75172582, 75174511]] None
ENST00000417775 [[75171173, 75172141], [75172582, 75172678], [75172786, 75172888], [75175781, 75175931], [75180262, 75180314], [75184892, 75185056], [75188801, 75188954], [75190394, 75190518], [75196065, 75196104], [75198639, 75199092]] [[75171979, 75172141], [75172582, 75172678], [75172786, 75172888], [75175781, 75175931], [75180262, 75180314], [75184892, 75185056], [75188801, 75188954], [75190394, 75190505]]
ENST00000370871 [[75171655, 75172141], [75172582, 75172678], [75175781, 75175931], [75180262, 75180314], [75184892, 75185056], [75188801, 75188954], [75190394, 75190518], [75198639, 75198706]] [[75171979, 75172141], [75172582, 75172678], [75175781, 75175931], [75180262, 75180314], [75184892, 75185056], [75188801, 75188954], [75190394, 75190505]]
ENST00000370870 [[75172788, 75172888], [75175781, 75175931], [75180262, 75180314], [75184892, 75185056], [75188801, 75188954], [75190394, 75190518], [75196065, 75196104], [75198639, 75198745]] [[75172788, 75172888], [75175781, 75175931], [75180262, 75180314], [75184892, 75185056], [75188801, 75188954], [75190394, 75190505]]
ENST00000441120 [[75175792, 75175931], [75180262, 75180314], [75184892, 75185056], [75188801, 75188954], [75190394, 75190518], [75198450, 75198495]] [[75175792, 75175931], [75180262, 75180314], [75184892, 75185056], [75188801, 75188954], [75190394, 75190505]]
NM_001130042 [[75171169, 75172141], [75172582, 75172678], [75172786, 75172888], [75175781, 75175931], [75180262, 75180314], [75184892, 75185056], [75188801, 75188954], [75190394, 75190518], [75196065, 75196104], [75198639, 75199092]] [[75171979, 75172141], [75172582, 75172678], [75172786, 75172888], [75175781, 75175931], [75180262, 75180314], [75184892, 75185056], [75188801, 75188954], [75190394, 75190505]]
NM_001889 [[75171169, 75172141], [75172582, 75172678], [75172786, 75172888], [75175781, 75175931], [75180262, 75180314], [75184892, 75185056], [75188801, 75188954], [75190394, 75190518], [75198639, 75199092]] [[75171979, 75172141], [75172582, 75172678], [75172786, 75172888], [75175781, 75175931], [75180262, 75180314], [75184892, 75185056], [75188801, 75188954], [75190394, 75190505]]
NM_001130043 [[75171169, 75172141], [75172582, 75172678], [75175781, 75175931], [75180262, 75180314], [75184892, 75185056], [75188801, 75188954], [75190394, 75190518], [75198639, 75199092]] [[75171979, 75172141], [75172582, 75172678], [75175781, 75175931], [75180262, 75180314], [75184892, 75185056], [75188801, 75188954], [75190394, 75190505]]
NM_001134759 [[75171169, 75172141], [75172582, 75172678], [75172786, 75172888], [75175781, 75175931], [75180262, 75180314], [75188801, 75188954], [75198639, 75199092]] [[75171979, 75172141], [75172582, 75172678], [75172786, 75172888], [75175781, 75175931], [75180262, 75180314], [75188801, 75188818]]
Promoter
Chrom Start End Description
chr1 75198593 75198604 CAGE_peak_9_at_CRYZ_5end
chr1 75198605 75198621 CAGE_peak_6_at_CRYZ_5end
chr1 75198681 75198750 CAGE_peak_1_at_CRYZ_5end
chr1 75198940 75198973 CAGE_peak_2_at_CRYZ_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I074729 74729846 74734968 2.49 [{'connected_gene': 'CRYZ', 'score': 627.28}, {'connected_gene': 'TYW3', 'score': 567.98}, {'connected_gene': 'ENSG00000272864', 'score': 0.29}]
chr1 GH01I075074 75074486 75075790 0.59 [{'connected_gene': 'CRYZ', 'score': 3.96}, {'connected_gene': 'GC01M074990', 'score': 0.34}, {'connected_gene': 'ENSG00000261213', 'score': 0.25}]