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
ENST00000284818 [[74903586, 74903789], [74917030, 74917120], [74922235, 74922364], [74939023, 74939076], [74941190, 74941322]] [[74903677, 74903789], [74917030, 74917120], [74922235, 74922364], [74939023, 74939076], [74941190, 74941289]]
ENST00000518893 [[74903660, 74903789], [74922235, 74922364], [74939023, 74939076], [74941190, 74941309]] [[74903677, 74903789], [74922235, 74922364], [74939023, 74939076], [74941190, 74941289]]
NM_001195797 [[74903563, 74903789], [74922235, 74922364], [74939023, 74939076], [74941190, 74941314]] [[74903677, 74903789], [74922235, 74922364], [74939023, 74939076], [74941190, 74941289]]
NM_015364 [[74903563, 74903789], [74917030, 74917120], [74922235, 74922364], [74939023, 74939076], [74941190, 74941314]] [[74903677, 74903789], [74917030, 74917120], [74922235, 74922364], [74939023, 74939076], [74941190, 74941289]]
Promoter
Chrom Start End Description
chr8 74903580 74903661 CAGE_peak_1_at_LY96_5end
chr8 74903677 74903688 CAGE_peak_3_at_LY96_5end
chr8 74903696 74903725 CAGE_peak_2_at_LY96_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I073994 73994801 73995840 0.2 [{'connected_gene': 'TMEM70', 'score': 24.45}, {'connected_gene': 'ELOC', 'score': 11.94}, {'connected_gene': 'LY96', 'score': 0.77}, {'connected_gene': 'GC08M074003', 'score': 0.29}]
chr8 GH08I074032 74032816 74033717 0.2 [{'connected_gene': 'TMEM70', 'score': 16.55}, {'connected_gene': 'LY96', 'score': 11.03}, {'connected_gene': 'ELOC', 'score': 10.49}, {'connected_gene': 'GC08M074003', 'score': 0.77}, {'connected_gene': 'RNU6-1300P', 'score': 0.37}]
chr8 GH08I074008 74008353 74009615 0.38 [{'connected_gene': 'TMEM70', 'score': 7.35}, {'connected_gene': 'LY96', 'score': 0.37}, {'connected_gene': 'GC08M074003', 'score': 0.34}]
chr8 GH08I074014 74014378 74014506 0.27 [{'connected_gene': 'LY96', 'score': 3.89}, {'connected_gene': 'UBE2W', 'score': 2.96}, {'connected_gene': 'TMEM70', 'score': 2.28}, {'connected_gene': 'GC08M074003', 'score': 0.39}]
chr8 GH08I074033 74032546 74032695 0.2 [{'connected_gene': 'LY96', 'score': 11.03}, {'connected_gene': 'TMEM70', 'score': 10.49}, {'connected_gene': 'ELOC', 'score': 10.49}, {'connected_gene': 'GDAP1', 'score': 4.61}, {'connected_gene': 'GC08M074003', 'score': 0.77}, {'connected_gene': 'RNU6-1300P', 'score': 0.37}]
chr8 GH08I073990 73990591 73992966 1.83 [{'connected_gene': 'LY96', 'score': 550.77}, {'connected_gene': 'TMEM70', 'score': 21.21}, {'connected_gene': 'GC08M074003', 'score': 0.28}]
chr8 GH08I073984 73984765 73985777 0.52 [{'connected_gene': 'DSTNP3', 'score': 550.77}, {'connected_gene': 'TMEM70', 'score': 7.8}, {'connected_gene': 'LY96', 'score': 0.44}]
chr8 GH08I073966 73966801 73967000 0.31 [{'connected_gene': 'GC08P073966', 'score': 550.77}, {'connected_gene': 'LY96', 'score': 10.6}, {'connected_gene': 'UBE2W', 'score': 10.5}, {'connected_gene': 'GC08M073941', 'score': 0.44}, {'connected_gene': 'ELOC', 'score': 0.44}]
chr8 GH08I073967 73966406 73966555 0.57 [{'connected_gene': 'GC08P073966', 'score': 550.77}, {'connected_gene': 'LY96', 'score': 10.6}, {'connected_gene': 'UBE2W', 'score': 10.5}, {'connected_gene': 'TMEM70', 'score': 6.19}, {'connected_gene': 'GC08M073941', 'score': 0.44}, {'connected_gene': 'ELOC', 'score': 0.44}]