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
ENST00000306324 [[177015949, 177016794], [177017335, 177017954]] [[177016361, 177016794], [177017335, 177017670]]
NM_014621 [[177016112, 177016794], [177017335, 177017951]] [[177016361, 177016794], [177017335, 177017670]]
Promoter
Chrom Start End Description
chr2 177016272 177016286 CAGE_peak_2_at_HOXD4_5end
chr2 177016336 177016350 CAGE_peak_1_at_HOXD4_5end
chr2 177016535 177016548 CAGE_peak_3_at_HOXD4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I175180 175180126 175182367 2.11 [{'connected_gene': 'ATP5MC3', 'score': 578.85}, {'connected_gene': 'GC02P175182', 'score': 550.77}, {'connected_gene': 'HOXD9', 'score': 10.18}, {'connected_gene': 'CIR1', 'score': 10.0}, {'connected_gene': 'HOXD4', 'score': 9.8}, {'connected_gene': 'GC02M175181', 'score': 0.77}]
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 GH02I176455 176455013 176456765 0.9 [{'connected_gene': 'HOXD4', 'score': 11.1}, {'connected_gene': 'MIR10B', 'score': 11.1}, {'connected_gene': 'HOXD3', 'score': 11.1}, {'connected_gene': 'HOXD11', 'score': 10.04}, {'connected_gene': 'HOXD10', 'score': 10.04}, {'connected_gene': 'ENSG00000229434', 'score': 0.23}, {'connected_gene': 'PPIAP67', 'score': 0.13}]
chr2 GH02I176175 176175133 176175282 0.6 [{'connected_gene': 'HOXD4', 'score': 11.56}, {'connected_gene': 'HOXD3', 'score': 11.5}, {'connected_gene': 'MIR10B', 'score': 10.97}, {'connected_gene': 'HOXD-AS2', 'score': 10.83}, {'connected_gene': 'HOXD10', 'score': 10.42}, {'connected_gene': 'HOXD11', 'score': 10.41}, {'connected_gene': 'HAGLROS', 'score': 0.77}, {'connected_gene': 'ENSG00000272729', 'score': 0.44}, {'connected_gene': 'HAGLR', 'score': 0.39}]
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 GH02I176480 176480099 176480318 0.22 [{'connected_gene': 'HOXD4', 'score': 1.68}, {'connected_gene': 'ENSG00000229434', 'score': 0.31}, {'connected_gene': 'PPIAP67', 'score': 0.11}]
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 GH02I176445 176445631 176447044 0.59 [{'connected_gene': 'HOXD3', 'score': 10.68}, {'connected_gene': 'HOXD8', 'score': 10.68}, {'connected_gene': 'HOXD-AS2', 'score': 10.68}, {'connected_gene': 'HOXD4', 'score': 10.11}, {'connected_gene': 'MIR10B', 'score': 9.47}, {'connected_gene': 'ENSG00000229434', 'score': 0.21}, {'connected_gene': 'PPIAP67', 'score': 0.14}]
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 GH02I176581 176581557 176584860 1.02 [{'connected_gene': 'HOXD3', 'score': 10.32}, {'connected_gene': 'HOXD4', 'score': 10.01}, {'connected_gene': 'MIR10B', 'score': 10.01}, {'connected_gene': 'GC02P176590', 'score': 0.44}, {'connected_gene': 'ENSG00000236231', 'score': 0.23}]
chr2 GH02I176683 176683193 176683291 0.2 [{'connected_gene': 'HOXD3', 'score': 10.35}, {'connected_gene': 'HOXD4', 'score': 10.34}, {'connected_gene': 'LOC105369143', 'score': 0.77}, {'connected_gene': 'PIR52992', 'score': 0.15}]
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 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}]
chr2 GH02I176151 176151244 176151303 0.68 [{'connected_gene': 'GC02P176169', 'score': 550.77}, {'connected_gene': 'PIR51248', 'score': 550.77}, {'connected_gene': 'HOXD4', 'score': 550.77}, {'connected_gene': 'GC02P176168', 'score': 550.77}, {'connected_gene': 'MIR10B', 'score': 550.77}, {'connected_gene': 'ENSG00000278500', 'score': 550.77}, {'connected_gene': 'HOXD8', 'score': 6.95}, {'connected_gene': 'ENSG00000272729', 'score': 0.39}, {'connected_gene': 'HOXD3', 'score': 0.39}]