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
ENST00000319933 [[102594402, 102594597], [102601608, 102601698], [102611597, 102614361]] [[102611620, 102612241]]
ENST00000515669 [[102594736, 102594887], [102601608, 102601698], [102611597, 102612929]] [[102611620, 102612241]]
ENST00000510890 [[102595124, 102595492], [102601608, 102601698], [102611597, 102614072]] [[102611620, 102612241]]
NM_033211 [[102594402, 102594597], [102601608, 102601698], [102611597, 102614361]] [[102611620, 102612241]]
NM_001316969 [[102594736, 102594887], [102601608, 102601698], [102611597, 102614361]] [[102611620, 102612241]]
NM_001316968 [[102595057, 102595492], [102601608, 102601698], [102611597, 102614361]] [[102611620, 102612241]]
Promoter
Chrom Start End Description
chr5 102594270 102594305 CAGE_peak_6_at_C5orf30_5end
chr5 102594418 102594445 CAGE_peak_2_at_C5orf30_5end
chr5 102594449 102594478 CAGE_peak_1_at_C5orf30_5end
chr5 102594488 102594508 CAGE_peak_3_at_C5orf30_5end
chr5 102594725 102594768 CAGE_peak_4_at_C5orf30_5end
chr5 102595119 102595142 CAGE_peak_5_at_C5orf30_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I103257 103257912 103263487 2.24 [{'connected_gene': 'C5orf30', 'score': 550.77}, {'connected_gene': 'PPIP5K2', 'score': 30.22}, {'connected_gene': 'GC05P103272', 'score': 0.39}]
chr5 GH05I103544 103544537 103544934 0.22 [{'connected_gene': 'C5orf30', 'score': 3.52}, {'connected_gene': 'LINC02115', 'score': 0.77}, {'connected_gene': 'NUDT12', 'score': 0.37}]
chr5 GH05I103542 103542833 103542960 0.24 [{'connected_gene': 'LINC02115', 'score': 550.77}, {'connected_gene': 'C5orf30', 'score': 6.26}, {'connected_gene': 'NUDT12', 'score': 0.37}]
chr5 GH05I103449 103449966 103453509 1.2 [{'connected_gene': 'ENSG00000248203', 'score': 10.78}, {'connected_gene': 'GIN1', 'score': 4.57}, {'connected_gene': 'C5orf30', 'score': 1.76}, {'connected_gene': 'ENSG00000250567', 'score': 0.28}, {'connected_gene': 'PDZPH1P', 'score': 0.19}]
chr5 GH05I103271 103271601 103272200 0.64 [{'connected_gene': 'GC05P103272', 'score': 550.77}, {'connected_gene': 'PPIP5K2', 'score': 12.4}, {'connected_gene': 'C5orf30', 'score': 0.39}]