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
ENST00000494373 [[54014180, 54014509], [54015719, 54015842], [54021481, 54021514]] None
ENST00000405123 [[54014216, 54014509], [54021481, 54021586], [54023069, 54023150], [54024651, 54024729], [54024868, 54024932], [54026183, 54026218], [54028533, 54028757], [54028849, 54028979], [54035435, 54035597], [54036350, 54036410], [54040085, 54040210], [54041996, 54042072], [54045034, 54045357]] [[54014347, 54014509], [54021481, 54021586], [54023069, 54023150], [54024651, 54024729], [54024868, 54024932], [54026183, 54026218], [54028533, 54028757], [54028849, 54028979], [54035435, 54035597], [54036350, 54036410], [54040085, 54040210], [54041996, 54042072], [54045034, 54045106]]
ENST00000185150 [[54014216, 54014509], [54021481, 54021586], [54023069, 54023150], [54024651, 54024729], [54024868, 54024932], [54026183, 54026218], [54028533, 54028757], [54028849, 54028979], [54035435, 54035597], [54036350, 54036410], [54040085, 54040210], [54041679, 54041757], [54041996, 54042072], [54045034, 54045956]] [[54014347, 54014509], [54021481, 54021586], [54023069, 54023150], [54024651, 54024729], [54024868, 54024932], [54026183, 54026218], [54028533, 54028757], [54028849, 54028979], [54035435, 54035597], [54036350, 54036410], [54040085, 54040210], [54041679, 54041757], [54041996, 54042072], [54045034, 54045106]]
ENST00000378239 [[54014216, 54014509], [54021481, 54021586], [54023069, 54023150], [54024651, 54024729], [54024868, 54024932], [54026183, 54026218], [54028533, 54028757], [54028849, 54028979], [54036350, 54036410], [54040085, 54040210], [54041679, 54041757], [54041996, 54042072], [54045034, 54045956]] [[54014347, 54014509], [54021481, 54021586], [54023069, 54023150], [54024651, 54024729], [54024868, 54024932], [54026183, 54026218], [54028533, 54028757], [54028849, 54028979], [54036350, 54036410], [54040085, 54040210], [54041679, 54041757], [54041996, 54042072], [54045034, 54045106]]
NM_001127398 [[54014067, 54014509], [54021481, 54021586], [54023069, 54023150], [54024651, 54024729], [54024868, 54024932], [54026183, 54026218], [54028533, 54028757], [54028849, 54028979], [54036350, 54036410], [54040085, 54040210], [54041679, 54041757], [54041996, 54042072], [54045034, 54045956]] [[54014347, 54014509], [54021481, 54021586], [54023069, 54023150], [54024651, 54024729], [54024868, 54024932], [54026183, 54026218], [54028533, 54028757], [54028849, 54028979], [54036350, 54036410], [54040085, 54040210], [54041679, 54041757], [54041996, 54042072], [54045034, 54045106]]
NM_001127397 [[54014067, 54014509], [54021481, 54021586], [54023069, 54023150], [54024651, 54024729], [54024868, 54024932], [54026183, 54026218], [54028533, 54028757], [54028849, 54028979], [54035435, 54035597], [54036350, 54036410], [54040085, 54040210], [54041996, 54042072], [54045034, 54045956]] [[54014347, 54014509], [54021481, 54021586], [54023069, 54023150], [54024651, 54024729], [54024868, 54024932], [54026183, 54026218], [54028533, 54028757], [54028849, 54028979], [54035435, 54035597], [54036350, 54036410], [54040085, 54040210], [54041996, 54042072], [54045034, 54045106]]
NM_015701 [[54014067, 54014509], [54021481, 54021586], [54023069, 54023150], [54024651, 54024729], [54024868, 54024932], [54026183, 54026218], [54028533, 54028757], [54028849, 54028979], [54035435, 54035597], [54036350, 54036410], [54040085, 54040210], [54041679, 54041757], [54041996, 54042072], [54045034, 54045956]] [[54014347, 54014509], [54021481, 54021586], [54023069, 54023150], [54024651, 54024729], [54024868, 54024932], [54026183, 54026218], [54028533, 54028757], [54028849, 54028979], [54035435, 54035597], [54036350, 54036410], [54040085, 54040210], [54041679, 54041757], [54041996, 54042072], [54045034, 54045106]]
Promoter
Chrom Start End Description
chr2 54013633 54013650 CAGE_peak_6_at_ERLEC1_5end
chr2 54014146 54014159 CAGE_peak_3_at_ERLEC1_5end
chr2 54014168 54014220 CAGE_peak_1_at_ERLEC1_5end
chr2 54014270 54014287 CAGE_peak_2_at_ERLEC1_5end
chr2 54014300 54014311 CAGE_peak_4_at_ERLEC1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I053820 53820184 53820333 0.2 [{'connected_gene': 'ACYP2', 'score': 15.78}, {'connected_gene': 'PIR55664', 'score': 0.39}, {'connected_gene': 'ERLEC1', 'score': 0.29}, {'connected_gene': 'ASB3', 'score': 0.29}, {'connected_gene': 'GPR75-ASB3', 'score': 0.28}]
chr2 GH02I053826 53826226 53827418 1.59 [{'connected_gene': 'ACYP2', 'score': 16.46}, {'connected_gene': 'PIR55664', 'score': 0.77}, {'connected_gene': 'GPR75-ASB3', 'score': 0.29}, {'connected_gene': 'ERLEC1', 'score': 0.28}, {'connected_gene': 'ASB3', 'score': 0.28}]
chr2 GH02I053785 53785485 53788485 2.07 [{'connected_gene': 'ASB3', 'score': 554.8}, {'connected_gene': 'ERLEC1', 'score': 550.77}, {'connected_gene': 'ACYP2', 'score': 17.08}, {'connected_gene': 'GPR75', 'score': 4.45}, {'connected_gene': 'GPR75-ASB3', 'score': 0.19}]
chr2 GH02I053766 53766744 53769247 1.99 [{'connected_gene': 'CHAC2', 'score': 550.77}, {'connected_gene': 'ACYP2', 'score': 8.79}, {'connected_gene': 'ASB3', 'score': 4.31}, {'connected_gene': 'ERLEC1', 'score': 0.37}, {'connected_gene': 'GC02P053747', 'score': 0.34}, {'connected_gene': 'GPR75-ASB3', 'score': 0.16}]
chr2 GH02I053769 53769444 53769487 0.66 [{'connected_gene': 'CHAC2', 'score': 550.77}, {'connected_gene': 'ACYP2', 'score': 16.94}, {'connected_gene': 'ERLEC1', 'score': 0.37}, {'connected_gene': 'ASB3', 'score': 0.37}, {'connected_gene': 'GC02P053747', 'score': 0.34}, {'connected_gene': 'GPR75-ASB3', 'score': 0.16}]
chr2 GH02I053811 53811722 53814192 0.63 [{'connected_gene': 'ERLEC1', 'score': 11.87}, {'connected_gene': 'ASB3', 'score': 11.87}, {'connected_gene': 'ACYP2', 'score': 11.74}, {'connected_gene': 'PIR55664', 'score': 0.37}, {'connected_gene': 'GPR75-ASB3', 'score': 0.25}]
chr2 GH02I053791 53791902 53792237 0.31 [{'connected_gene': 'GPR75', 'score': 8.3}, {'connected_gene': 'ACYP2', 'score': 7.01}, {'connected_gene': 'ASB3', 'score': 3.06}, {'connected_gene': 'ERLEC1', 'score': 0.44}, {'connected_gene': 'PIR55664', 'score': 0.28}, {'connected_gene': 'GPR75-ASB3', 'score': 0.2}]