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
ENST00000522422 [[95731930, 95732242], [95738558, 95738669], [95751640, 95751762], [95751872, 95752007]] [[95732226, 95732242], [95738558, 95738669], [95751640, 95751762], [95751872, 95752007]]
ENST00000520774 [[95732102, 95732242], [95738558, 95738669], [95750596, 95750687], [95751640, 95751762], [95751872, 95751989]] [[95732226, 95732242], [95738558, 95738669], [95750596, 95750604]]
ENST00000414645 [[95732127, 95732242], [95738558, 95738669], [95746857, 95746982], [95750596, 95750687], [95751640, 95751762], [95751872, 95752018], [95768263, 95768387], [95773927, 95774062], [95777410, 95777542], [95777938, 95778037], [95778839, 95778913], [95780622, 95780781], [95782679, 95782799], [95789893, 95790014], [95792586, 95792643], [95793311, 95793394], [95795897, 95796030], [95800121, 95800280], [95801973, 95806064]] [[95732226, 95732242], [95738558, 95738669], [95746857, 95746982], [95750596, 95750687], [95751640, 95751762], [95751872, 95752018], [95768263, 95768387], [95773927, 95774062], [95777410, 95777542], [95777938, 95778037], [95778839, 95778913], [95780622, 95780781], [95782679, 95782799], [95789893, 95790014], [95792586, 95792643], [95793311, 95793394], [95795897, 95796030], [95800121, 95800280], [95801973, 95802138]]
ENST00000519353 [[95738623, 95738669], [95750596, 95750687], [95751640, 95751762], [95751872, 95751953]] [[95738623, 95738669], [95750596, 95750687], [95751640, 95751762], [95751872, 95751953]]
ENST00000519176 [[95738629, 95738669], [95746857, 95746982], [95750596, 95750687], [95751640, 95751762], [95751872, 95752018], [95756712, 95757312]] [[95738629, 95738669], [95746857, 95746982], [95750596, 95750687], [95751640, 95751762], [95751872, 95752018], [95756712, 95756761]]
ENST00000521525 [[95751747, 95751762], [95751872, 95752018], [95756570, 95757211]] [[95751747, 95751762], [95751872, 95752018], [95756570, 95756613]]
ENST00000523020 [[95751877, 95752018], [95768263, 95768387], [95773927, 95774062], [95777938, 95778037], [95778839, 95778913], [95780622, 95780781], [95782679, 95782775]] [[95751877, 95752018], [95768263, 95768387], [95773927, 95774062], [95777938, 95778037], [95778839, 95778913], [95780622, 95780781], [95782679, 95782775]]
ENST00000522669 [[95789905, 95790014], [95792586, 95792643], [95795897, 95796030], [95800121, 95800280], [95801973, 95802063]] [[95789905, 95790014], [95792586, 95792643], [95795897, 95795957]]
NM_181787 [[95732102, 95732242], [95738558, 95738669], [95746857, 95746982], [95750596, 95750687], [95751640, 95751762], [95751872, 95752018], [95768263, 95768387], [95773927, 95774062], [95777410, 95777542], [95777938, 95778037], [95778839, 95778913], [95780622, 95780781], [95782679, 95782799], [95789893, 95790014], [95792586, 95792643], [95793311, 95793394], [95795897, 95796030], [95800121, 95800280], [95801973, 95806076]] [[95732226, 95732242], [95738558, 95738669], [95746857, 95746982], [95750596, 95750687], [95751640, 95751762], [95751872, 95752018], [95768263, 95768387], [95773927, 95774062], [95777410, 95777542], [95777938, 95778037], [95778839, 95778913], [95780622, 95780781], [95782679, 95782799], [95789893, 95790014], [95792586, 95792643], [95793311, 95793394], [95795897, 95796030], [95800121, 95800280], [95801973, 95802138]]
Promoter
Chrom Start End Description
chr8 95731904 95731954 CAGE_peak_3_at_DPY19L4_5end
chr8 95732095 95732159 CAGE_peak_1_at_DPY19L4_5end
chr8 95732166 95732186 CAGE_peak_2_at_DPY19L4_5end
chr8 95802932 95802951 CAGE_peak_4_at_DPY19L4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I095094 95094788 95096555 0.63 [{'connected_gene': 'PLEKHF2', 'score': 12.78}, {'connected_gene': 'RNU6-1209P', 'score': 11.58}, {'connected_gene': 'DPY19L4', 'score': 4.6}, {'connected_gene': 'ENSG00000254248', 'score': 0.44}, {'connected_gene': 'MIR3150BHG', 'score': 0.29}, {'connected_gene': 'NDUFAF6', 'score': 0.08}]
chr8 GH08I094690 94690877 94694117 0.78 [{'connected_gene': 'ESRP1', 'score': 11.51}, {'connected_gene': 'DPY19L4', 'score': 6.19}, {'connected_gene': 'RPS15AP26', 'score': 0.77}, {'connected_gene': 'GC08P094705', 'score': 0.39}]
chr8 GH08I093915 93915458 93919263 2.22 [{'connected_gene': 'PDP1', 'score': 565.38}, {'connected_gene': 'MIR378D2', 'score': 550.77}, {'connected_gene': 'ENSG00000264448', 'score': 550.77}, {'connected_gene': 'LINC00535', 'score': 24.11}, {'connected_gene': 'FAM92A', 'score': 21.43}, {'connected_gene': 'ENSG00000253854', 'score': 19.34}, {'connected_gene': 'RPL34P18', 'score': 17.89}, {'connected_gene': 'TMEM67', 'score': 11.69}, {'connected_gene': 'DPY19L4', 'score': 11.28}, {'connected_gene': 'PSMA2P2', 'score': 0.31}]
chr8 GH08I094760 94760104 94761382 0.75 [{'connected_gene': 'DPY19L4', 'score': 5.12}, {'connected_gene': 'INTS8', 'score': 4.94}, {'connected_gene': 'ENSG00000254307', 'score': 0.29}]
chr8 GH08I094718 94718637 94721525 2.14 [{'connected_gene': 'DPY19L4', 'score': 556.16}, {'connected_gene': 'VIRMA', 'score': 75.65}, {'connected_gene': 'RBM12B', 'score': 50.15}, {'connected_gene': 'INTS8', 'score': 49.38}, {'connected_gene': 'C8orf37', 'score': 39.47}, {'connected_gene': 'NDUFAF6', 'score': 13.25}, {'connected_gene': 'RPL34P18', 'score': 11.26}, {'connected_gene': 'TMEM67', 'score': 10.99}, {'connected_gene': 'ENSG00000272509', 'score': 10.57}, {'connected_gene': 'ESRP1', 'score': 10.12}, {'connected_gene': 'ENSG00000253704', 'score': 9.77}, {'connected_gene': 'ENSG00000254307', 'score': 0.19}]
chr8 GH08I094748 94748866 94749581 0.83 [{'connected_gene': 'DPY19L4', 'score': 5.24}, {'connected_gene': 'ENSG00000254307', 'score': 0.26}]
chr8 GH08I094774 94774037 94774432 0.26 [{'connected_gene': 'RAD54B', 'score': 1.73}, {'connected_gene': 'VIRMA', 'score': 1.3}, {'connected_gene': 'ENSG00000254307', 'score': 0.37}, {'connected_gene': 'DPY19L4', 'score': 0.23}]
chr8 GH08I093974 93974253 93974402 0.56 [{'connected_gene': 'ENSG00000275386', 'score': 550.77}, {'connected_gene': 'RPL34P18', 'score': 17.48}, {'connected_gene': 'VIRMA', 'score': 12.15}, {'connected_gene': 'ENSG00000253854', 'score': 11.51}, {'connected_gene': 'INTS8', 'score': 10.34}, {'connected_gene': 'TMEM67', 'score': 9.95}, {'connected_gene': 'DPY19L4', 'score': 9.72}]