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
ENST00000265572 [[54138283, 54142389], [54147318, 54147671], [54163340, 54163645], [54164007, 54164257]] [[54141856, 54142389], [54147318, 54147671], [54163340, 54163597]]
ENST00000522508 [[54141350, 54142389], [54147318, 54147671], [54155298, 54155472], [54163340, 54163645], [54164007, 54164177]] [[54155378, 54155472], [54163340, 54163597]]
ENST00000524278 [[54141762, 54142389], [54147318, 54147671], [54151077, 54151292]] [[54141856, 54142389], [54147318, 54147661]]
ENST00000520287 [[54141772, 54142389], [54147318, 54147671], [54163340, 54163972]] [[54141856, 54142389], [54147318, 54147671], [54163340, 54163597]]
NM_001282904 [[54138275, 54142389], [54147318, 54147671], [54155298, 54155472], [54163340, 54163645], [54164007, 54164257]] [[54141856, 54142389], [54147318, 54147661]]
NM_001318497 [[54138275, 54142389], [54147318, 54147671], [54163340, 54163645], [54164007, 54164257]] [[54141769, 54142389], [54147318, 54147671], [54163340, 54163597]]
NM_000912 [[54138275, 54142389], [54147318, 54147671], [54163340, 54163645], [54164007, 54164257]] [[54141856, 54142389], [54147318, 54147671], [54163340, 54163597]]
Promoter
Chrom Start End Description
chr8 54164109 54164137 CAGE_peak_3_at_OPRK1_5end
chr8 54164145 54164187 CAGE_peak_1_at_OPRK1_5end
chr8 54164189 54164202 CAGE_peak_2_at_OPRK1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I053251 53251639 53251698 0.61 [{'connected_gene': 'OPRK1', 'score': 550.77}, {'connected_gene': 'EI24P5', 'score': 0.22}]
chr8 GH08I053204 53204701 53204850 0.2 [{'connected_gene': 'ENSG00000254687', 'score': 11.79}, {'connected_gene': 'EI24P5', 'score': 0.39}, {'connected_gene': 'LOC105375836', 'score': 0.31}, {'connected_gene': 'OPRK1', 'score': 0.25}]