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
ENST00000261263 [[72148653, 72149068], [72163579, 72163639], [72164371, 72164479], [72167738, 72167802], [72175810, 72175865], [72176349, 72176438], [72179310, 72184699]] [[72148909, 72149068], [72163579, 72163639], [72164371, 72164479], [72167738, 72167802], [72175810, 72175865], [72176349, 72176438], [72179310, 72179453]]
ENST00000358546 [[72164315, 72164479], [72167738, 72167802], [72175810, 72175865], [72176349, 72176438], [72179310, 72179699]] None
ENST00000547246 [[72164389, 72164479], [72167738, 72168080]] None
ENST00000552686 [[72176193, 72176438], [72179310, 72179469]] None
NM_014999 [[72148642, 72149068], [72163579, 72163639], [72164371, 72164479], [72167738, 72167802], [72175810, 72175865], [72176349, 72176438], [72179310, 72187256]] [[72148909, 72149068], [72163579, 72163639], [72164371, 72164479], [72167738, 72167802], [72175810, 72175865], [72176349, 72176438], [72179310, 72179453]]
Promoter
Chrom Start End Description
chr12 72148614 72148699 CAGE_peak_1_at_RAB21_5end
chr12 72148728 72148739 CAGE_peak_3_at_RAB21_5end
chr12 72148820 72148829 CAGE_peak_4_at_RAB21_5end
chr12 72148996 72149025 CAGE_peak_2_at_RAB21_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I071782 71782084 71782594 0.43 [{'connected_gene': 'TBC1D15', 'score': 12.73}, {'connected_gene': 'RAB21', 'score': 12.11}, {'connected_gene': 'TPH2', 'score': 11.3}, {'connected_gene': 'ENSG00000257410', 'score': 0.37}]
chr12 GH12I071780 71780158 71781250 0.56 [{'connected_gene': 'TBC1D15', 'score': 12.73}, {'connected_gene': 'RAB21', 'score': 12.11}, {'connected_gene': 'TPH2', 'score': 11.3}, {'connected_gene': 'ENSG00000257410', 'score': 0.37}]
chr12 GH12I071787 71787721 71787870 0.54 [{'connected_gene': 'TBC1D15', 'score': 12.03}, {'connected_gene': 'TPH2', 'score': 10.38}, {'connected_gene': 'ENSG00000257410', 'score': 0.39}, {'connected_gene': 'RAB21', 'score': 0.29}]
chr12 GH12I071747 71747101 71747250 0.64 [{'connected_gene': 'TMEM19', 'score': 11.39}, {'connected_gene': 'ZFC3H1', 'score': 11.13}, {'connected_gene': 'THAP2', 'score': 11.12}, {'connected_gene': 'ENSG00000212461', 'score': 10.96}, {'connected_gene': 'RAB21', 'score': 0.44}, {'connected_gene': 'ENSG00000257515', 'score': 0.28}]
chr12 GH12I071719 71719592 71720743 0.31 [{'connected_gene': 'TMEM19', 'score': 11.25}, {'connected_gene': 'ZFC3H1', 'score': 10.99}, {'connected_gene': 'ENSG00000257515', 'score': 6.51}, {'connected_gene': 'RAB21', 'score': 0.29}]
chr12 GH12I071731 71731471 71732469 1.13 [{'connected_gene': 'TMEM19', 'score': 11.77}, {'connected_gene': 'ZFC3H1', 'score': 11.57}, {'connected_gene': 'ENSG00000257515', 'score': 6.69}, {'connected_gene': 'RAB21', 'score': 0.34}]
chr12 GH12I071721 71721888 71722428 0.62 [{'connected_gene': 'TMEM19', 'score': 11.23}, {'connected_gene': 'ZFC3H1', 'score': 10.99}, {'connected_gene': 'ENSG00000257515', 'score': 0.39}, {'connected_gene': 'RAB21', 'score': 0.29}]
chr12 GH12I071753 71753104 71753160 0.89 [{'connected_gene': 'RAB21', 'score': 550.77}, {'connected_gene': 'TMEM19', 'score': 11.42}, {'connected_gene': 'ZFC3H1', 'score': 11.24}, {'connected_gene': 'THAP2', 'score': 11.23}, {'connected_gene': 'ENSG00000212461', 'score': 10.82}, {'connected_gene': 'ENSG00000257515', 'score': 0.26}]
chr12 GH12I071754 71754080 71756872 2.06 [{'connected_gene': 'RAB21', 'score': 550.77}, {'connected_gene': 'ZFC3H1', 'score': 31.45}, {'connected_gene': 'TBC1D15', 'score': 10.15}, {'connected_gene': 'ENSG00000257410', 'score': 0.26}]
chr12 GH12I071799 71799001 71799201 0.2 [{'connected_gene': 'ENSG00000257410', 'score': 550.77}, {'connected_gene': 'TBC1D15', 'score': 11.11}, {'connected_gene': 'TPH2', 'score': 10.0}, {'connected_gene': 'RAB21', 'score': 0.26}]
chr12 GH12I071709 71709677 71711350 0.83 [{'connected_gene': 'ENSG00000257515', 'score': 557.44}, {'connected_gene': 'TMEM19', 'score': 12.17}, {'connected_gene': 'ZFC3H1', 'score': 11.08}, {'connected_gene': 'RAB21', 'score': 0.26}]