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
ENST00000256257 [[33405272, 33406385], [33406927, 33407010], [33408561, 33408603], [33408861, 33408907], [33416132, 33416289], [33424216, 33424643]] [[33406270, 33406385], [33406927, 33407010], [33408561, 33408603], [33408861, 33408907], [33416132, 33416289], [33424216, 33424241]]
NM_024787 [[33405271, 33406385], [33406927, 33407010], [33408561, 33408603], [33408861, 33408907], [33416132, 33416289], [33424216, 33424646]] [[33406270, 33406385], [33406927, 33407010], [33408561, 33408603], [33408861, 33408907], [33416132, 33416289], [33424216, 33424241]]
Promoter
Chrom Start End Description
chr8 33424612 33424619 CAGE_peak_3_at_RNF122_5end
chr8 33424636 33424653 CAGE_peak_1_at_RNF122_5end
chr8 33424654 33424665 CAGE_peak_2_at_RNF122_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I033429 33429638 33430008 0.23 [{'connected_gene': 'FUT10', 'score': 30.12}, {'connected_gene': 'RNF122', 'score': 9.66}, {'connected_gene': 'PIR51386', 'score': 0.77}, {'connected_gene': 'LOC100507379', 'score': 0.44}]
chr8 GH08I033470 33470683 33473923 2.09 [{'connected_gene': 'FUT10', 'score': 593.62}, {'connected_gene': 'SNORD13', 'score': 11.67}, {'connected_gene': 'TTI2', 'score': 11.67}, {'connected_gene': 'LOC100630919', 'score': 11.64}, {'connected_gene': 'ENSG00000252505', 'score': 11.35}, {'connected_gene': 'RPL10P18', 'score': 11.35}, {'connected_gene': 'RNF122', 'score': 11.34}, {'connected_gene': 'LOC100507379', 'score': 0.28}]
chr8 GH08I033553 33553189 33560668 1.25 [{'connected_gene': 'FUT10', 'score': 16.54}, {'connected_gene': 'LOC100630919', 'score': 11.63}, {'connected_gene': 'SNORD13', 'score': 11.6}, {'connected_gene': 'TTI2', 'score': 11.6}, {'connected_gene': 'RNF122', 'score': 4.98}, {'connected_gene': 'RPL10P18', 'score': 0.37}, {'connected_gene': 'GC08P033549', 'score': 0.37}]
chr8 GH08I033574 33574366 33575200 0.8 [{'connected_gene': 'FUT10', 'score': 14.04}, {'connected_gene': 'LOC100630919', 'score': 12.05}, {'connected_gene': 'SNORD13', 'score': 12.03}, {'connected_gene': 'TTI2', 'score': 12.03}, {'connected_gene': 'ENSG00000252505', 'score': 11.86}, {'connected_gene': 'RPL10P18', 'score': 11.86}, {'connected_gene': 'MAK16', 'score': 11.16}, {'connected_gene': 'RNF122', 'score': 4.72}, {'connected_gene': 'RN7SL621P', 'score': 0.44}]
chr8 GH08I033511 33511800 33515383 2.15 [{'connected_gene': 'TTI2', 'score': 596.16}, {'connected_gene': 'SNORD13', 'score': 550.77}, {'connected_gene': 'GC08P033513', 'score': 550.77}, {'connected_gene': 'FUT10', 'score': 42.52}, {'connected_gene': 'MAK16', 'score': 30.71}, {'connected_gene': 'RNF122', 'score': 10.29}]
chr8 GH08I033560 33560957 33567937 2.42 [{'connected_gene': 'RNF122', 'score': 558.73}, {'connected_gene': 'FUT10', 'score': 14.71}, {'connected_gene': 'RPL10P18', 'score': 0.34}, {'connected_gene': 'GC08P033549', 'score': 0.34}]
chr8 GH08I033536 33536123 33536272 0.43 [{'connected_gene': 'RNF122', 'score': 16.22}, {'connected_gene': 'SNORD13', 'score': 11.89}, {'connected_gene': 'TTI2', 'score': 11.89}, {'connected_gene': 'GC08P033550', 'score': 0.77}, {'connected_gene': 'LOC100630919', 'score': 0.39}]
chr8 GH08I033580 33580718 33582316 0.77 [{'connected_gene': 'GC08P033581', 'score': 550.77}, {'connected_gene': 'RN7SL621P', 'score': 550.77}, {'connected_gene': 'FUT10', 'score': 12.98}, {'connected_gene': 'LOC100630919', 'score': 12.01}, {'connected_gene': 'SNORD13', 'score': 11.99}, {'connected_gene': 'TTI2', 'score': 11.99}, {'connected_gene': 'ENSG00000252505', 'score': 11.41}, {'connected_gene': 'RPL10P18', 'score': 11.41}, {'connected_gene': 'MAK16', 'score': 10.87}, {'connected_gene': 'RNF122', 'score': 4.6}, {'connected_gene': 'DUSP26', 'score': 0.37}]
chr8 GH08I033572 33572323 33572472 0.43 [{'connected_gene': 'ENSG00000252505', 'score': 11.86}, {'connected_gene': 'RPL10P18', 'score': 11.86}, {'connected_gene': 'RN7SL621P', 'score': 0.44}, {'connected_gene': 'RNF122', 'score': 0.44}]