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
ENST00000360128 [[33342267, 33342739], [33345895, 33345945], [33346037, 33346147], [33346251, 33346316], [33346505, 33346657], [33347802, 33347857], [33353059, 33353134], [33354142, 33354259], [33354749, 33354815], [33355949, 33358778]] [[33342724, 33342739], [33345895, 33345945], [33346037, 33346147], [33346251, 33346316], [33346505, 33346657], [33347802, 33347857], [33353059, 33353134], [33354142, 33354259], [33354749, 33354815], [33355949, 33356147]]
ENST00000517567 [[33342699, 33342739], [33345895, 33345945], [33346037, 33346530]] None
ENST00000520763 [[33342699, 33342739], [33345895, 33345945], [33346037, 33346147], [33346251, 33346316], [33346505, 33346809]] None
ENST00000518389 [[33342717, 33342739], [33345895, 33345945], [33346037, 33346147], [33346251, 33346316], [33346505, 33346657], [33353059, 33353134], [33354142, 33354259], [33354749, 33354815], [33355949, 33356164]] [[33342717, 33342739], [33345895, 33345945], [33346037, 33346147], [33346251, 33346316], [33346505, 33346657], [33353059, 33353072]]
ENST00000519089 [[33342724, 33343149], [33345895, 33345945], [33346037, 33346120]] None
NM_032509 [[33342684, 33342739], [33345895, 33345945], [33346037, 33346147], [33346251, 33346316], [33346505, 33346657], [33347802, 33347857], [33353059, 33353134], [33354142, 33354259], [33354749, 33354815], [33355949, 33358778]] [[33342724, 33342739], [33345895, 33345945], [33346037, 33346147], [33346251, 33346316], [33346505, 33346657], [33347802, 33347857], [33353059, 33353134], [33354142, 33354259], [33354749, 33354815], [33355949, 33356147]]
Promoter
Chrom Start End Description
chr8 33342691 33342716 CAGE_peak_1_at_MAK16_5end
chr8 33356206 33356213 CAGE_peak_2_at_MAK16_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH08I033483 33483742 33486497 2.08 [{'connected_gene': 'MAK16', 'score': 550.77}, {'connected_gene': 'FUT10', 'score': 40.7}, {'connected_gene': 'GC08P033513', 'score': 0.31}, {'connected_gene': 'TTI2', 'score': 0.31}]
chr8 GH08I033886 33886000 33886251 0.24 [{'connected_gene': 'MAK16', 'score': 1.37}, {'connected_gene': 'GC08P033912', 'score': 0.31}, {'connected_gene': 'RPL6P22', 'score': 0.31}, {'connected_gene': 'LOC105379364', 'score': 0.06}]
chr8 GH08I033433 33433924 33434275 0.26 [{'connected_gene': 'MAK16', 'score': 12.72}, {'connected_gene': 'ENSG00000252505', 'score': 9.66}, {'connected_gene': 'RPL10P18', 'score': 9.66}, {'connected_gene': 'FUT10', 'score': 3.13}, {'connected_gene': 'TTI2', 'score': 2.76}, {'connected_gene': 'LOC100507379', 'score': 0.77}, {'connected_gene': 'PIR51386', 'score': 0.44}]
chr8 GH08I033207 33207201 33207414 0.39 [{'connected_gene': 'TTI2', 'score': 4.01}, {'connected_gene': 'FUT10', 'score': 3.95}, {'connected_gene': 'MAK16', 'score': 2.72}, {'connected_gene': 'ENSG00000253993', 'score': 0.37}, {'connected_gene': 'GC08P033066', 'score': 0.11}, {'connected_gene': 'GC08M033148', 'score': 0.08}]
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 GH08I033509 33509683 33509827 0.74 [{'connected_gene': 'GC08P033513', 'score': 0.77}, {'connected_gene': 'TTI2', 'score': 0.77}, {'connected_gene': 'MAK16', 'score': 0.31}]
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}]