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
ENST00000295228 [[121103718, 121104212], [121106674, 121109384]] [[121103764, 121104212], [121106674, 121107450]]
NM_002193 [[121103717, 121104212], [121106674, 121109384]] [[121103764, 121104212], [121106674, 121107450]]
Promoter
Chrom Start End Description
chr2 121103706 121103754 CAGE_peak_1_at_INHBB_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I120565 120565743 120567554 0.74 [{'connected_gene': 'INHBB', 'score': 11.19}, {'connected_gene': 'GLI2', 'score': 5.28}, {'connected_gene': 'GC02M120575', 'score': 0.44}, {'connected_gene': 'ENSG00000232140', 'score': 0.44}]
chr2 GH02I120343 120343505 120343654 0.86 [{'connected_gene': 'INHBB', 'score': 0.77}, {'connected_gene': 'LOC105373989', 'score': 0.39}]
chr2 GH02I120346 120346093 120346152 0.61 [{'connected_gene': 'INHBB', 'score': 550.77}, {'connected_gene': 'LOC105373989', 'score': 0.37}]
chr2 GH02I120345 120345400 120346001 0.89 [{'connected_gene': 'INHBB', 'score': 550.77}, {'connected_gene': 'LOC105373989', 'score': 0.37}]
chr2 GH02I120372 120372890 120374552 0.81 [{'connected_gene': 'GLI2', 'score': 20.64}, {'connected_gene': 'MTCO3P43', 'score': 11.52}, {'connected_gene': 'GC02M120375', 'score': 0.77}, {'connected_gene': 'INHBB', 'score': 0.31}]
chr2 GH02I120396 120396227 120401887 1.22 [{'connected_gene': 'GC02M120397', 'score': 550.77}, {'connected_gene': 'GLI2', 'score': 10.72}, {'connected_gene': 'INHBB', 'score': 5.06}, {'connected_gene': 'GC02M120375', 'score': 0.34}]