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
ENST00000361249 [[57320478, 57320651], [57333281, 57333375], [57340621, 57340766], [57341734, 57341882], [57347117, 57347307], [57349153, 57349354], [57351599, 57351840], [57372339, 57372465], [57373628, 57373786], [57378075, 57378298], [57383237, 57383894]] [[57320574, 57320651], [57333281, 57333375], [57340621, 57340766], [57341734, 57341882], [57347117, 57347307], [57349153, 57349354], [57351599, 57351840], [57372339, 57372465], [57373628, 57373786], [57378075, 57378298], [57383237, 57383389]]
NM_000562 [[57320442, 57320651], [57333281, 57333375], [57340621, 57340766], [57341734, 57341882], [57347117, 57347307], [57349153, 57349354], [57351599, 57351840], [57372339, 57372465], [57373628, 57373786], [57378075, 57378298], [57383237, 57383894]] [[57320574, 57320651], [57333281, 57333375], [57340621, 57340766], [57341734, 57341882], [57347117, 57347307], [57349153, 57349354], [57351599, 57351840], [57372339, 57372465], [57373628, 57373786], [57378075, 57378298], [57383237, 57383389]]
Promoter
Chrom Start End Description
chr1 57320437 57320479 CAGE_peak_1_at_C8A_5end
chr1 57320495 57320514 CAGE_peak_2_at_C8A_5end
chr1 57320524 57320540 CAGE_peak_3_at_C8A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I056574 56574800 56582386 2.5 [{'connected_gene': 'PLPP3', 'score': 554.69}, {'connected_gene': 'C8A', 'score': 8.33}, {'connected_gene': 'FYB2', 'score': 7.87}, {'connected_gene': 'C8B', 'score': 6.59}, {'connected_gene': 'PRKAA2', 'score': 4.96}, {'connected_gene': 'RPL23AP85', 'score': 0.44}, {'connected_gene': 'GC01P056539', 'score': 0.26}]
chr1 GH01I056907 56907863 56912072 1.17 [{'connected_gene': 'C8B', 'score': 21.73}, {'connected_gene': 'C8A', 'score': 19.25}, {'connected_gene': 'FYB2', 'score': 18.15}, {'connected_gene': 'GC01P056889', 'score': 0.34}, {'connected_gene': 'LOC105378745', 'score': 0.23}]
chr1 GH01I057279 57279420 57283946 1.18 [{'connected_gene': 'C8A', 'score': 4.02}, {'connected_gene': 'C8B', 'score': 3.63}, {'connected_gene': 'FYB2', 'score': 2.39}, {'connected_gene': 'GC01P057267', 'score': 0.39}, {'connected_gene': 'GC01P057293', 'score': 0.39}]
chr1 GH01I056831 56831748 56833627 1.2 [{'connected_gene': 'C8A', 'score': 10.96}, {'connected_gene': 'ENSG00000229913', 'score': 0.44}, {'connected_gene': 'GC01P056845', 'score': 0.39}]
chr1 GH01I056866 56866383 56867477 0.58 [{'connected_gene': 'C8A', 'score': 0.39}, {'connected_gene': 'GC01P056889', 'score': 0.34}]
chr1 GH01I056854 56854748 56854807 1.16 [{'connected_gene': 'C8A', 'score': 550.77}, {'connected_gene': 'GC01P056889', 'score': 0.29}]
chr1 GH01I057006 57006755 57006879 0.22 [{'connected_gene': 'FYB2', 'score': 5.49}, {'connected_gene': 'C8A', 'score': 5.05}, {'connected_gene': 'C8B', 'score': 3.8}, {'connected_gene': 'GC01P057000', 'score': 0.44}, {'connected_gene': 'LOC105378748', 'score': 0.39}]