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
ENST00000406506 [[176964457, 176965103], [176965249, 176966408]] [[176964529, 176965103], [176965249, 176965488]]
ENST00000404162 [[176964529, 176965131], [176965249, 176965488]] [[176964529, 176965131], [176965249, 176965388]]
NM_021193 [[176964529, 176965103], [176965249, 176965488]] [[176964529, 176965103], [176965249, 176965488]]
Promoter
Chrom Start End Description
chr2 176964515 176964540 CAGE_peak_1_at_HOXD12_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I175974 175974674 175975029 0.22 [{'connected_gene': 'LNPK', 'score': 11.69}, {'connected_gene': 'HOXD11', 'score': 9.8}, {'connected_gene': 'HOXD12', 'score': 9.8}, {'connected_gene': 'HAGLROS', 'score': 4.5}, {'connected_gene': 'GC02M175980', 'score': 0.39}, {'connected_gene': 'ENSG00000229779', 'score': 0.2}]
chr2 GH02I176092 176092752 176092811 0.99 [{'connected_gene': 'HOXD13', 'score': 550.44}, {'connected_gene': 'HOXD12', 'score': 0.44}]
chr2 GH02I176099 176099746 176099805 0.61 [{'connected_gene': 'HOXD12', 'score': 550.77}, {'connected_gene': 'GC02P176100', 'score': 550.77}, {'connected_gene': 'HOXD11', 'score': 0.77}]
chr2 GH02I176096 176096463 176098282 0.94 [{'connected_gene': 'HOXD12', 'score': 550.77}, {'connected_gene': 'HAGLROS', 'score': 6.73}, {'connected_gene': 'LNPK', 'score': 5.12}, {'connected_gene': 'HOXD13', 'score': 0.44}]
chr2 GH02I176073 176073451 176073970 0.76 [{'connected_gene': 'HOXD11', 'score': 11.35}, {'connected_gene': 'HOXD12', 'score': 11.34}, {'connected_gene': 'HOXD10', 'score': 11.34}, {'connected_gene': 'HOXD1', 'score': 10.14}, {'connected_gene': 'HAGLR', 'score': 10.13}, {'connected_gene': 'LNPK', 'score': 4.46}, {'connected_gene': 'EVX2', 'score': 0.39}, {'connected_gene': 'GC02M176020', 'score': 0.23}]
chr2 GH02I176177 176177335 176179500 0.9 [{'connected_gene': 'HAGLROS', 'score': 582.37}, {'connected_gene': 'HAGLR', 'score': 15.04}, {'connected_gene': 'HOXD1', 'score': 12.62}, {'connected_gene': 'HOXD4', 'score': 11.51}, {'connected_gene': 'HOXD3', 'score': 11.46}, {'connected_gene': 'HOXD-AS2', 'score': 10.96}, {'connected_gene': 'MIR10B', 'score': 10.41}, {'connected_gene': 'HOXD11', 'score': 9.9}, {'connected_gene': 'HOXD12', 'score': 9.89}, {'connected_gene': 'HOXD10', 'score': 9.7}, {'connected_gene': 'HOXD13', 'score': 9.4}]
chr2 GH02I176159 176159703 176162723 0.54 [{'connected_gene': 'HAGLROS', 'score': 29.24}, {'connected_gene': 'HAGLR', 'score': 27.29}, {'connected_gene': 'HOXD1', 'score': 24.54}, {'connected_gene': 'HOXD-AS2', 'score': 11.78}, {'connected_gene': 'HOXD9', 'score': 11.72}, {'connected_gene': 'HOXD3', 'score': 11.63}, {'connected_gene': 'HOXD8', 'score': 11.59}, {'connected_gene': 'HOXD10', 'score': 11.41}, {'connected_gene': 'HOXD11', 'score': 11.4}, {'connected_gene': 'HOXD13', 'score': 11.27}, {'connected_gene': 'HOXD12', 'score': 10.98}, {'connected_gene': 'ENSG00000272729', 'score': 0.77}, {'connected_gene': 'ENSG00000278500', 'score': 0.39}]
chr2 GH02I176171 176171373 176171522 0.49 [{'connected_gene': 'HAGLROS', 'score': 33.37}, {'connected_gene': 'HOXD-AS2', 'score': 11.27}, {'connected_gene': 'HOXD3', 'score': 11.27}, {'connected_gene': 'HOXD10', 'score': 11.01}, {'connected_gene': 'HOXD11', 'score': 11.01}, {'connected_gene': 'HOXD8', 'score': 10.92}, {'connected_gene': 'HOXD12', 'score': 10.77}, {'connected_gene': 'HOXD9', 'score': 10.56}, {'connected_gene': 'HOXD13', 'score': 10.49}, {'connected_gene': 'ENSG00000272729', 'score': 0.44}, {'connected_gene': 'ENSG00000278500', 'score': 0.34}]
chr2 GH02I176173 176172853 176173002 0.75 [{'connected_gene': 'HOXD-AS2', 'score': 11.25}, {'connected_gene': 'HOXD3', 'score': 11.25}, {'connected_gene': 'HOXD10', 'score': 11.01}, {'connected_gene': 'HOXD11', 'score': 11.01}, {'connected_gene': 'HOXD8', 'score': 10.92}, {'connected_gene': 'HOXD12', 'score': 10.77}, {'connected_gene': 'HOXD9', 'score': 10.55}, {'connected_gene': 'HOXD13', 'score': 10.48}, {'connected_gene': 'HAGLROS', 'score': 0.77}, {'connected_gene': 'ENSG00000272729', 'score': 0.44}, {'connected_gene': 'ENSG00000278500', 'score': 0.34}]
chr2 GH02I176172 176171813 176171962 0.49 [{'connected_gene': 'HOXD-AS2', 'score': 11.27}, {'connected_gene': 'HOXD3', 'score': 11.25}, {'connected_gene': 'HOXD10', 'score': 11.01}, {'connected_gene': 'HOXD11', 'score': 11.01}, {'connected_gene': 'HOXD8', 'score': 10.92}, {'connected_gene': 'HOXD12', 'score': 10.77}, {'connected_gene': 'HOXD9', 'score': 10.56}, {'connected_gene': 'HOXD13', 'score': 10.49}, {'connected_gene': 'ENSG00000272729', 'score': 0.44}, {'connected_gene': 'HAGLROS', 'score': 0.44}, {'connected_gene': 'ENSG00000278500', 'score': 0.34}]