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
ENST00000490088 [[176973517, 176974086], [176983681, 176984122]] None
ENST00000549469 [[176973604, 176974086], [176976110, 176976244], [176983681, 176983971]] None
ENST00000249501 [[176981306, 176982306], [176983681, 176984670]] [[176981561, 176982306], [176983681, 176983959]]
NM_002148 [[176981491, 176982306], [176983681, 176984670]] [[176981561, 176982306], [176983681, 176983959]]
Promoter
Chrom Start End Description
chr2 176973275 176973300 CAGE_peak_4_at_HOXD10_5end
chr2 176973313 176973325 CAGE_peak_8_at_HOXD10_5end
chr2 176973498 176973524 CAGE_peak_1_at_HOXD10_5end
chr2 176973528 176973535 CAGE_peak_9_at_HOXD10_5end
chr2 176973557 176973561 CAGE_peak_10_at_HOXD10_5end
chr2 176981499 176981522 CAGE_peak_2_at_HOXD10_5end
chr2 176981526 176981543 CAGE_peak_3_at_HOXD10_5end
chr2 176981546 176981557 CAGE_peak_5_at_HOXD10_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I176116 176116613 176116762 0.62 [{'connected_gene': 'HOXD13', 'score': 17.52}, {'connected_gene': 'HOXD-AS2', 'score': 11.42}, {'connected_gene': 'HOXD9', 'score': 0.44}, {'connected_gene': 'HOXD10', 'score': 0.44}]
chr2 GH02I176105 176105133 176105568 0.97 [{'connected_gene': 'HOXD11', 'score': 569.68}, {'connected_gene': 'HOXD13', 'score': 7.94}, {'connected_gene': 'HOXD10', 'score': 5.88}, {'connected_gene': 'HOXD9', 'score': 3.19}, {'connected_gene': 'HOXD8', 'score': 2.9}, {'connected_gene': 'HOXD3', 'score': 1.79}]
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 GH02I176107 176107231 176107290 1.12 [{'connected_gene': 'HOXD11', 'score': 550.77}, {'connected_gene': 'HOXD10', 'score': 550.77}]
chr2 GH02I176121 176121933 176123262 1.06 [{'connected_gene': 'HOXD9', 'score': 557.2}, {'connected_gene': 'HAGLR', 'score': 7.68}, {'connected_gene': 'HOXD10', 'score': 0.39}, {'connected_gene': 'HOXD-AS2', 'score': 0.39}]
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 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 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}]