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
ENST00000370318 [[74123237, 74123744], [74135186, 74135301], [74138431, 74138534], [74149931, 74150168], [74155250, 74155470], [74161247, 74161982]] [[74123732, 74123744], [74135186, 74135301], [74138431, 74138534], [74149931, 74150168], [74155250, 74155470], [74161247, 74161904]]
ENST00000370315 [[74133431, 74135301], [74138431, 74138534], [74149931, 74150168], [74155250, 74155470], [74161247, 74161999]] [[74134949, 74135301], [74138431, 74138534], [74149931, 74150168], [74155250, 74155470], [74161247, 74161904]]
ENST00000459924 [[74149465, 74150168], [74155250, 74155408]] None
Promoter
Chrom Start End Description
chr6 74161555 74161569 CAGE_peak_5_at_MB21D1_5end
chr6 74161847 74161858 CAGE_peak_3_at_MB21D1_5end
chr6 74161977 74162027 CAGE_peak_1_at_MB21D1_5end
chr6 74162045 74162056 CAGE_peak_2_at_MB21D1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I072824 72824837 72827787 0.8 [{'connected_gene': 'KCNQ5', 'score': 8.46}, {'connected_gene': 'CGAS', 'score': 5.32}, {'connected_gene': 'GC06M072905', 'score': 0.17}, {'connected_gene': 'GC06P072687', 'score': 0.12}]
chr6 GH06I073421 73421429 73423445 1.04 [{'connected_gene': 'OOEP', 'score': 11.85}, {'connected_gene': 'DDX43', 'score': 11.85}, {'connected_gene': 'RPS6P8', 'score': 11.83}, {'connected_gene': 'RPL39P3', 'score': 11.34}, {'connected_gene': 'OOEP-AS1', 'score': 11.33}, {'connected_gene': 'CGAS', 'score': 0.31}]
chr6 GH06I073577 73577158 73582217 1.77 [{'connected_gene': 'SLC17A5', 'score': 34.39}, {'connected_gene': 'MTO1', 'score': 21.44}, {'connected_gene': 'EEF1A1', 'score': 19.63}, {'connected_gene': 'LOC105377857', 'score': 13.01}, {'connected_gene': 'CD109', 'score': 10.79}, {'connected_gene': 'CGAS', 'score': 7.2}, {'connected_gene': 'GC06P073558', 'score': 0.34}, {'connected_gene': 'GC06P073601', 'score': 0.34}]
chr6 GH06I073584 73584602 73587668 1.73 [{'connected_gene': 'SLC17A5', 'score': 32.93}, {'connected_gene': 'EEF1A1', 'score': 17.94}, {'connected_gene': 'LOC105377857', 'score': 12.99}, {'connected_gene': 'EIF3EP1', 'score': 12.58}, {'connected_gene': 'CGAS', 'score': 12.12}, {'connected_gene': 'ENSG00000229852', 'score': 11.72}, {'connected_gene': 'CD109', 'score': 7.46}, {'connected_gene': 'GC06P073601', 'score': 0.37}, {'connected_gene': 'GC06P073558', 'score': 0.31}]
chr6 GH06I073665 73665255 73667089 0.52 [{'connected_gene': 'SLC17A5', 'score': 10.3}, {'connected_gene': 'CGAS', 'score': 5.56}, {'connected_gene': 'GC06M073661', 'score': 0.77}, {'connected_gene': 'CD109', 'score': 0.44}]
chr6 GH06I073454 73454379 73455222 0.51 [{'connected_gene': 'MTO1', 'score': 7.63}, {'connected_gene': 'SLC17A5', 'score': 7.35}, {'connected_gene': 'CGAS', 'score': 0.77}]
chr6 GH06I073455 73455601 73456600 0.79 [{'connected_gene': 'MTO1', 'score': 9.69}, {'connected_gene': 'SLC17A5', 'score': 7.48}, {'connected_gene': 'CGAS', 'score': 0.77}]
chr6 GH06I073449 73449858 73450007 0.49 [{'connected_gene': 'MTO1', 'score': 7.52}, {'connected_gene': 'CGAS', 'score': 0.77}, {'connected_gene': 'OOEP', 'score': 0.23}]
chr6 GH06I073809 73809069 73809247 0.23 [{'connected_gene': 'CD109', 'score': 3.11}, {'connected_gene': 'CGAS', 'score': 1.64}, {'connected_gene': 'PIR44699', 'score': 0.2}, {'connected_gene': 'LOC101928489', 'score': 0.14}]
chr6 GH06I073720 73720817 73725908 1.35 [{'connected_gene': 'CD109', 'score': 37.26}, {'connected_gene': 'LOC101928489', 'score': 13.31}, {'connected_gene': 'SLC17A5', 'score': 13.11}, {'connected_gene': 'CGAS', 'score': 3.69}, {'connected_gene': 'EEF1A1', 'score': 3.67}, {'connected_gene': 'PIR44699', 'score': 0.1}]
chr6 GH06I073450 73450063 73453251 1.81 [{'connected_gene': 'CGAS', 'score': 550.77}, {'connected_gene': 'MTO1', 'score': 18.87}, {'connected_gene': 'SLC17A5', 'score': 7.48}, {'connected_gene': 'EIF3EP1', 'score': 5.74}, {'connected_gene': 'OOEP', 'score': 0.22}]