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
ENST00000331462 [[177053306, 177054181], [177054535, 177055688]] [[177053529, 177054181], [177054535, 177054870]]
NM_024501 [[177053306, 177054181], [177054535, 177055635]] [[177053529, 177054181], [177054535, 177054870]]
Promoter
Chrom Start End Description
chr2 177053386 177053402 CAGE_peak_1_at_HOXD1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I176489 176489749 176492249 1.08 [{'connected_gene': 'HAGLR', 'score': 10.94}, {'connected_gene': 'HOXD1', 'score': 10.94}, {'connected_gene': 'HOXD3', 'score': 10.52}, {'connected_gene': 'ENSG00000229434', 'score': 0.37}, {'connected_gene': 'PPIAP67', 'score': 0.1}]
chr2 GH02I176492 176492585 176494001 0.6 [{'connected_gene': 'HAGLR', 'score': 10.94}, {'connected_gene': 'HOXD1', 'score': 10.94}, {'connected_gene': 'HOXD3', 'score': 10.52}, {'connected_gene': 'ENSG00000222043', 'score': 5.16}, {'connected_gene': 'ENSG00000229434', 'score': 0.39}, {'connected_gene': 'PPIAP67', 'score': 0.1}]
chr2 GH02I176500 176500993 176501162 0.46 [{'connected_gene': 'HAGLR', 'score': 10.01}, {'connected_gene': 'HOXD1', 'score': 10.01}, {'connected_gene': 'ENSG00000229434', 'score': 0.44}, {'connected_gene': 'PPIAP67', 'score': 0.1}]
chr2 GH02I176297 176297070 176297458 0.95 [{'connected_gene': 'HAGLR', 'score': 10.05}, {'connected_gene': 'HOXD1', 'score': 10.05}, {'connected_gene': 'GC02P176303', 'score': 0.44}, {'connected_gene': 'GC02P176273', 'score': 0.34}, {'connected_gene': 'MTX2', 'score': 0.31}]
chr2 GH02I176496 176496217 176497145 0.2 [{'connected_gene': 'HAGLR', 'score': 10.94}, {'connected_gene': 'HOXD1', 'score': 10.94}, {'connected_gene': 'HOXD-AS2', 'score': 10.56}, {'connected_gene': 'HOXD3', 'score': 10.56}, {'connected_gene': 'ENSG00000229434', 'score': 0.39}, {'connected_gene': 'PPIAP67', 'score': 0.1}]
chr2 GH02I176574 176574635 176574846 0.66 [{'connected_gene': 'HAGLR', 'score': 9.39}, {'connected_gene': 'HOXD1', 'score': 9.39}, {'connected_gene': 'GC02P176590', 'score': 0.37}, {'connected_gene': 'ENSG00000236231', 'score': 0.26}]
chr2 GH02I176514 176514354 176516942 0.2 [{'connected_gene': 'HAGLR', 'score': 10.57}, {'connected_gene': 'HOXD1', 'score': 10.57}, {'connected_gene': 'ENSG00000229434', 'score': 0.44}, {'connected_gene': 'ENSG00000236231', 'score': 0.37}]
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 GH02I176128 176128150 176141429 2.47 [{'connected_gene': 'HOXD8', 'score': 558.68}, {'connected_gene': 'HOXD3', 'score': 550.77}, {'connected_gene': 'HOXD1', 'score': 21.87}, {'connected_gene': 'HAGLR', 'score': 20.72}, {'connected_gene': 'ATF2', 'score': 19.11}, {'connected_gene': 'HOXD4', 'score': 18.94}, {'connected_gene': 'HOXD9', 'score': 15.79}, {'connected_gene': 'HAGLROS', 'score': 11.59}, {'connected_gene': 'HOXD11', 'score': 10.66}, {'connected_gene': 'HOXD-AS2', 'score': 5.12}, {'connected_gene': 'LOC100129455', 'score': 0.44}, {'connected_gene': 'GC02M176128', 'score': 0.44}]
chr2 GH02I176544 176544514 176546214 0.31 [{'connected_gene': 'HOXD4', 'score': 10.95}, {'connected_gene': 'MIR10B', 'score': 10.95}, {'connected_gene': 'HOXD3', 'score': 10.95}, {'connected_gene': 'HAGLR', 'score': 10.78}, {'connected_gene': 'HOXD1', 'score': 10.78}, {'connected_gene': 'HOXD10', 'score': 10.21}, {'connected_gene': 'HOXD11', 'score': 10.21}, {'connected_gene': 'ENSG00000236231', 'score': 0.39}, {'connected_gene': 'GC02P176590', 'score': 0.25}]
chr2 GH02I176449 176449693 176450384 0.43 [{'connected_gene': 'HOXD4', 'score': 10.83}, {'connected_gene': 'HOXD3', 'score': 10.83}, {'connected_gene': 'HOXD8', 'score': 10.72}, {'connected_gene': 'HOXD-AS2', 'score': 10.68}, {'connected_gene': 'MIR10B', 'score': 10.31}, {'connected_gene': 'HAGLR', 'score': 9.71}, {'connected_gene': 'HOXD1', 'score': 9.71}, {'connected_gene': 'HOXD11', 'score': 9.62}, {'connected_gene': 'HOXD10', 'score': 9.62}, {'connected_gene': 'ENSG00000229434', 'score': 0.22}, {'connected_gene': 'PPIAP67', 'score': 0.14}]
chr2 GH02I176561 176561611 176562011 0.42 [{'connected_gene': 'HOXD3', 'score': 10.34}, {'connected_gene': 'HAGLR', 'score': 10.16}, {'connected_gene': 'HOXD1', 'score': 10.16}, {'connected_gene': 'HOXD4', 'score': 9.94}, {'connected_gene': 'MIR10B', 'score': 9.77}, {'connected_gene': 'GC02P176590', 'score': 0.31}, {'connected_gene': 'ENSG00000236231', 'score': 0.29}]
chr2 GH02I176562 176562021 176563022 0.75 [{'connected_gene': 'HOXD3', 'score': 10.34}, {'connected_gene': 'HAGLR', 'score': 10.16}, {'connected_gene': 'HOXD1', 'score': 10.16}, {'connected_gene': 'HOXD4', 'score': 9.94}, {'connected_gene': 'MIR10B', 'score': 9.77}, {'connected_gene': 'GC02P176590', 'score': 0.31}, {'connected_gene': 'ENSG00000236231', 'score': 0.29}]
chr2 GH02I176621 176621357 176621762 0.44 [{'connected_gene': 'HOXD3', 'score': 22.48}, {'connected_gene': 'HOXD10', 'score': 10.2}, {'connected_gene': 'HOXD11', 'score': 10.2}, {'connected_gene': 'HAGLR', 'score': 9.63}, {'connected_gene': 'HOXD1', 'score': 9.63}, {'connected_gene': 'LOC105373754', 'score': 0.44}, {'connected_gene': 'LINC01117', 'score': 0.37}]
chr2 GH02I176503 176503294 176504900 0.67 [{'connected_gene': 'HOXD3', 'score': 10.56}, {'connected_gene': 'HOXD4', 'score': 10.15}, {'connected_gene': 'MIR10B', 'score': 10.15}, {'connected_gene': 'HAGLR', 'score': 10.01}, {'connected_gene': 'HOXD1', 'score': 10.01}, {'connected_gene': 'ENSG00000229434', 'score': 0.77}, {'connected_gene': 'PPIAP67', 'score': 0.1}]
chr2 GH02I176186 176186870 176189800 1.65 [{'connected_gene': 'HOXD1', 'score': 563.95}, {'connected_gene': 'HAGLR', 'score': 550.77}, {'connected_gene': 'MIR7704', 'score': 550.77}, {'connected_gene': 'HAGLROS', 'score': 0.39}]
chr2 GH02I176552 176552179 176555202 1.32 [{'connected_gene': 'HNRNPA3', 'score': 14.81}, {'connected_gene': 'HOXD4', 'score': 11.42}, {'connected_gene': 'HOXD3', 'score': 11.42}, {'connected_gene': 'HOXD-AS2', 'score': 11.25}, {'connected_gene': 'MIR10B', 'score': 10.48}, {'connected_gene': 'HAGLR', 'score': 10.2}, {'connected_gene': 'HOXD1', 'score': 10.2}, {'connected_gene': 'HOXD13', 'score': 9.54}, {'connected_gene': 'ENSG00000236231', 'score': 0.34}, {'connected_gene': 'GC02P176590', 'score': 0.28}]
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 GH02I176565 176565450 176566791 0.6 [{'connected_gene': 'HOXD-AS2', 'score': 10.76}, {'connected_gene': 'HOXD3', 'score': 10.76}, {'connected_gene': 'HAGLR', 'score': 10.16}, {'connected_gene': 'HOXD1', 'score': 10.16}, {'connected_gene': 'HOXD11', 'score': 10.08}, {'connected_gene': 'HOXD4', 'score': 9.93}, {'connected_gene': 'MIR10B', 'score': 9.77}, {'connected_gene': 'GC02P176590', 'score': 0.34}, {'connected_gene': 'ENSG00000236231', 'score': 0.29}]