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
ENST00000586470 [[2867332, 2867422], [2873493, 2873616], [2876090, 2876274], [2877270, 2877440]] [[2867419, 2867422], [2873493, 2873616], [2876090, 2876174]]
ENST00000307635 [[2867332, 2867422], [2873493, 2873620], [2876090, 2876274], [2877270, 2878501]] [[2867419, 2867422], [2873493, 2873620], [2876090, 2876274], [2877270, 2878327]]
ENST00000586426 [[2867332, 2867422], [2873493, 2873620], [2876090, 2876274], [2877273, 2878515]] [[2867419, 2867422], [2873493, 2873620], [2876090, 2876274], [2877273, 2878327]]
NM_001300843 [[2867332, 2867422], [2873493, 2873620], [2876090, 2876274], [2877273, 2878515]] [[2867419, 2867422], [2873493, 2873620], [2876090, 2876274], [2877273, 2878327]]
NM_024967 [[2867332, 2867422], [2873493, 2873620], [2876090, 2876274], [2877270, 2878515]] [[2867419, 2867422], [2873493, 2873620], [2876090, 2876274], [2877270, 2878327]]
Promoter
Chrom Start End Description
chr19 2867298 2867317 CAGE_peak_2_at_ZNF556_5end
chr19 2867325 2867348 CAGE_peak_1_at_ZNF556_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I002866 2866491 2868717 1.56 [{'connected_gene': 'ZNF556', 'score': 565.99}, {'connected_gene': 'SF3A2', 'score': 9.98}, {'connected_gene': 'ZNF555', 'score': 7.82}, {'connected_gene': 'SMIM24', 'score': 4.76}, {'connected_gene': 'ENSG00000267398', 'score': 0.44}]
chr19 GH19I002893 2893223 2894347 0.38 [{'connected_gene': 'ZNF556', 'score': 12.11}, {'connected_gene': 'ZNF77', 'score': 11.69}, {'connected_gene': 'ZNF555', 'score': 11.68}, {'connected_gene': 'BTBD2', 'score': 4.58}, {'connected_gene': 'LOC100419704', 'score': 0.77}, {'connected_gene': 'ENSG00000267398', 'score': 0.37}]
chr19 GH19I002863 2863555 2864569 0.43 [{'connected_gene': 'ZNF556', 'score': 14.72}, {'connected_gene': 'ENSG00000267063', 'score': 0.44}]
chr19 GH19I002864 2864765 2866322 0.85 [{'connected_gene': 'ZNF556', 'score': 565.07}, {'connected_gene': 'ENSG00000267063', 'score': 0.44}]
chr19 GH19I002922 2922873 2924076 0.77 [{'connected_gene': 'ZNF77', 'score': 12.36}, {'connected_gene': 'ZNF556', 'score': 11.74}, {'connected_gene': 'ZNF555', 'score': 11.39}, {'connected_gene': 'SLC39A3', 'score': 10.76}, {'connected_gene': 'TLE6', 'score': 10.58}, {'connected_gene': 'LOC101928631', 'score': 9.91}, {'connected_gene': 'GC19M002916', 'score': 0.77}, {'connected_gene': 'GC19M002923', 'score': 0.37}, {'connected_gene': 'GC19M002924', 'score': 0.37}]
chr19 GH19I002693 2693534 2696661 1.2 [{'connected_gene': 'ZNF77', 'score': 22.41}, {'connected_gene': 'CACTIN-AS1', 'score': 18.96}, {'connected_gene': 'DIRAS1', 'score': 18.4}, {'connected_gene': 'CACTIN', 'score': 16.78}, {'connected_gene': 'GNG7', 'score': 15.73}, {'connected_gene': 'SLC39A3', 'score': 12.29}, {'connected_gene': 'ZNF556', 'score': 10.52}, {'connected_gene': 'LINGO3', 'score': 2.28}, {'connected_gene': 'ENSG00000276097', 'score': 0.44}, {'connected_gene': 'PIR43863', 'score': 0.28}]
chr19 GH19I002872 2872200 2872600 0.52 [{'connected_gene': 'ZNF555', 'score': 12.19}, {'connected_gene': 'ZNF57', 'score': 11.89}, {'connected_gene': 'LOC101928631', 'score': 11.81}, {'connected_gene': 'ZNF77', 'score': 11.45}, {'connected_gene': 'AES', 'score': 10.36}, {'connected_gene': 'ENSG00000267398', 'score': 0.77}, {'connected_gene': 'ZNF556', 'score': 0.44}]
chr19 GH19I002887 2887393 2889444 1.25 [{'connected_gene': 'ZNF555', 'score': 17.16}, {'connected_gene': 'LOC101928631', 'score': 12.59}, {'connected_gene': 'ZNF556', 'score': 12.16}, {'connected_gene': 'ZNF77', 'score': 11.8}, {'connected_gene': 'ZNF554', 'score': 11.52}, {'connected_gene': 'THOP1', 'score': 11.47}, {'connected_gene': 'SLC39A3', 'score': 10.59}, {'connected_gene': 'LOC100419704', 'score': 0.44}, {'connected_gene': 'ENSG00000267398', 'score': 0.39}]
chr19 GH19I002690 2690445 2692940 0.46 [{'connected_gene': 'DIRAS1', 'score': 18.35}, {'connected_gene': 'SLC39A3', 'score': 12.29}, {'connected_gene': 'ZNF556', 'score': 10.52}, {'connected_gene': 'GNG7', 'score': 8.96}, {'connected_gene': 'ENSG00000276097', 'score': 0.44}, {'connected_gene': 'PIR43863', 'score': 0.28}]
chr19 GH19I002819 2819203 2820801 2.04 [{'connected_gene': 'ZNF554', 'score': 577.02}, {'connected_gene': 'GC19P002822', 'score': 550.77}, {'connected_gene': 'ZNF77', 'score': 33.03}, {'connected_gene': 'CACTIN-AS1', 'score': 24.53}, {'connected_gene': 'THOP1', 'score': 23.04}, {'connected_gene': 'CACTIN', 'score': 21.36}, {'connected_gene': 'SF3A2', 'score': 20.37}, {'connected_gene': 'LOC100288123', 'score': 18.63}, {'connected_gene': 'SPPL2B', 'score': 13.39}, {'connected_gene': 'ZNF556', 'score': 12.6}, {'connected_gene': 'DOT1L', 'score': 11.99}, {'connected_gene': 'ZNF57', 'score': 11.84}, {'connected_gene': 'LOC101928631', 'score': 11.81}, {'connected_gene': 'C19orf71', 'score': 11.57}, {'connected_gene': 'ZNF555', 'score': 11.07}, {'connected_gene': 'SLC39A3', 'score': 10.91}, {'connected_gene': 'ENSG00000267139', 'score': 10.52}, {'connected_gene': 'TLE6', 'score': 10.25}, {'connected_gene': 'APBA3', 'score': 9.69}, {'connected_gene': 'GC19P002827', 'score': 0.44}]