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
ENST00000374642 [[22962998, 22963195], [22964102, 22964272], [22965325, 22966101]] [[22964109, 22964272], [22965325, 22965900]]
ENST00000438241 [[22963254, 22963353], [22964102, 22964272], [22965325, 22965824]] [[22964109, 22964272], [22965325, 22965824]]
ENST00000402322 [[22964072, 22964272], [22965325, 22966101]] [[22964109, 22964272], [22965325, 22965900]]
NM_015991 [[22962998, 22963195], [22964102, 22964272], [22965325, 22966175]] [[22964109, 22964272], [22965325, 22965900]]
NM_001347465 [[22962998, 22963195], [22964082, 22964272], [22965325, 22966175]] [[22964109, 22964272], [22965325, 22965900]]
NM_001347466 [[22963254, 22963353], [22964102, 22964272], [22965325, 22966175]] [[22964109, 22964272], [22965325, 22965900]]
Promoter
Chrom Start End Description
chr1 22962948 22962961 CAGE_peak_4_at_C1QA_5end
chr1 22963102 22963132 CAGE_peak_1_at_C1QA_5end
chr1 22963133 22963149 CAGE_peak_2_at_C1QA_5end
chr1 22963158 22963176 CAGE_peak_3_at_C1QA_5end
chr1 22964110 22964132 CAGE_peak_5_at_C1QA_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I022412 22412496 22415143 1.15 [{'connected_gene': 'C1QC', 'score': 11.85}, {'connected_gene': 'C1QA', 'score': 11.85}, {'connected_gene': 'LACTBL1', 'score': 10.35}, {'connected_gene': 'ZBTB40', 'score': 5.56}, {'connected_gene': 'LOC105376856', 'score': 0.44}, {'connected_gene': 'ENSG00000279625', 'score': 0.25}]
chr1 GH01I022643 22643584 22643643 0.73 [{'connected_gene': 'C1QC', 'score': 550.77}, {'connected_gene': 'C1QA', 'score': 0.44}]
chr1 GH01I022416 22416491 22417000 1.12 [{'connected_gene': 'C1QA', 'score': 11.86}, {'connected_gene': 'C1QC', 'score': 11.85}, {'connected_gene': 'LACTBL1', 'score': 10.35}, {'connected_gene': 'LOC105376856', 'score': 0.77}, {'connected_gene': 'ENSG00000279625', 'score': 0.23}]
chr1 GH01I022636 22636579 22637200 0.93 [{'connected_gene': 'C1QA', 'score': 550.77}, {'connected_gene': 'C1QC', 'score': 0.44}]
chr1 GH01I022851 22851587 22851811 0.22 [{'connected_gene': 'C1QA', 'score': 2.26}, {'connected_gene': 'C1QB', 'score': 2.24}, {'connected_gene': 'C1QC', 'score': 2.15}, {'connected_gene': 'ENSG00000225952', 'score': 0.39}, {'connected_gene': 'MIR4253', 'score': 0.39}, {'connected_gene': 'EPHB2', 'score': 0.11}]