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
ENST00000084798 [[49141198, 49141401], [49142144, 49142310], [49142561, 49142716], [49142805, 49142878], [49143044, 49143140], [49143351, 49143537], [49147683, 49147826], [49148659, 49148734], [49148822, 49149569]] [[49141375, 49141401], [49142144, 49142310], [49142561, 49142716], [49142805, 49142878], [49143044, 49143140], [49143351, 49143537], [49147683, 49147826], [49148659, 49148734], [49148822, 49148889]]
ENST00000599267 [[49141271, 49141401], [49142144, 49142395]] None
ENST00000594088 [[49141272, 49141401], [49141496, 49141642]] None
ENST00000596080 [[49141278, 49141401], [49141496, 49141550], [49142144, 49142310], [49142561, 49142716]] [[49141530, 49141550], [49142144, 49142310], [49142561, 49142716]]
NR_136241 [[49141198, 49141401], [49141496, 49142310], [49142561, 49142716], [49142805, 49142878], [49143044, 49143140], [49143351, 49143537], [49147683, 49147826], [49148659, 49148734], [49148822, 49149569]] None
NM_001217 [[49141198, 49141401], [49142144, 49142310], [49142561, 49142716], [49142805, 49142878], [49143044, 49143140], [49143351, 49143537], [49147683, 49147826], [49148659, 49148734], [49148822, 49149569]] [[49141375, 49141401], [49142144, 49142310], [49142561, 49142716], [49142805, 49142878], [49143044, 49143140], [49143351, 49143537], [49147683, 49147826], [49148659, 49148734], [49148822, 49148889]]
Promoter
Chrom Start End Description
chr19 49147890 49147907 CAGE_peak_12_at_CA11_5end
chr19 49148162 49148195 CAGE_peak_6_at_CA11_5end
chr19 49149161 49149187 CAGE_peak_5_at_CA11_5end
chr19 49149202 49149212 CAGE_peak_11_at_CA11_5end
chr19 49149234 49149251 CAGE_peak_9_at_CA11_5end
chr19 49149268 49149357 CAGE_peak_1_at_CA11_5end
chr19 49149364 49149374 CAGE_peak_8_at_CA11_5end
chr19 49149384 49149393 CAGE_peak_7_at_CA11_5end
chr19 49149405 49149459 CAGE_peak_2_at_CA11_5end
chr19 49149553 49149602 CAGE_peak_4_at_CA11_5end
chr19 49149623 49149666 CAGE_peak_3_at_CA11_5end