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
ENST00000377028 [[95089557, 95092330], [95095689, 95095891], [95112344, 95112480], [95114263, 95114443], [95117886, 95118053], [95118811, 95118912], [95120999, 95121299], [95131214, 95131923]] [[95092151, 95092330], [95095689, 95095891], [95112344, 95112480], [95114263, 95114443], [95117886, 95118053], [95118811, 95118912], [95120999, 95121299], [95131214, 95131509]]
ENST00000483392 [[95091740, 95092330], [95095689, 95095891], [95096616, 95096690], [95097942, 95098015], [95112344, 95112480], [95114263, 95114443], [95117886, 95118053], [95118811, 95118912], [95120999, 95121024]] [[95096670, 95096690], [95097942, 95098015], [95112344, 95112480], [95114263, 95114443], [95117886, 95118053], [95118811, 95118912], [95120999, 95121024]]
ENST00000446125 [[95091842, 95092330], [95095689, 95095891], [95097972, 95098015], [95104860, 95104916], [95112344, 95112480], [95114263, 95114443], [95117886, 95118053], [95118811, 95118912], [95120999, 95121299], [95131214, 95131936]] [[95092151, 95092330], [95095689, 95095891], [95097972, 95098015], [95104860, 95104916], [95112344, 95112480], [95114263, 95114443], [95117886, 95118053], [95118811, 95118912], [95120999, 95121299], [95131214, 95131509]]
ENST00000490854 [[95114374, 95114443], [95117886, 95118053], [95118811, 95118912], [95119852, 95120209]] None
ENST00000472871 [[95117710, 95118053], [95118811, 95121299], [95131214, 95131923]] None
NM_001322186 [[95089557, 95092330], [95095689, 95095891], [95112344, 95112480], [95114263, 95114443], [95117886, 95118053], [95118811, 95118912], [95120999, 95121299], [95157164, 95157326], [95157766, 95157873], [95201423, 95201667]] [[95092151, 95092330], [95095689, 95095891], [95112344, 95112480], [95114263, 95114443], [95117886, 95118053], [95118811, 95118912], [95120999, 95121299], [95157164, 95157270]]
NM_001322184 [[95089557, 95092330], [95095689, 95095891], [95112344, 95112480], [95114263, 95114443], [95117886, 95118053], [95118811, 95118912], [95120999, 95121299], [95141630, 95141684], [95201423, 95201667]] [[95092151, 95092330], [95095689, 95095891], [95112344, 95112480], [95114263, 95114373]]
NM_001322183 [[95089557, 95092330], [95095689, 95095891], [95112344, 95112480], [95114263, 95114443], [95117886, 95118053], [95118811, 95118912], [95141630, 95141684], [95201423, 95201667]] [[95092151, 95092330], [95095689, 95095891], [95112344, 95112480], [95114263, 95114373]]
NM_001322185 [[95089557, 95092330], [95095689, 95095891], [95112344, 95112480], [95114263, 95114443], [95117886, 95118053], [95118811, 95118912], [95120999, 95121299], [95201423, 95201667]] [[95092151, 95092330], [95095689, 95095891], [95112344, 95112480], [95114263, 95114373]]
NM_001322182 [[95089557, 95092330], [95095689, 95095891], [95112344, 95112480], [95114263, 95114443], [95117886, 95118053], [95118811, 95118912], [95201423, 95201667]] [[95092151, 95092330], [95095689, 95095891], [95112344, 95112480], [95114263, 95114373]]
NM_001129889 [[95089557, 95092330], [95095689, 95095891], [95097972, 95098015], [95104860, 95104916], [95112344, 95112480], [95114263, 95114443], [95117886, 95118053], [95118811, 95118912], [95120999, 95121299], [95131214, 95131936]] [[95092151, 95092330], [95095689, 95095891], [95097972, 95098015], [95104860, 95104916], [95112344, 95112480], [95114263, 95114443], [95117886, 95118053], [95118811, 95118912], [95120999, 95121299], [95131214, 95131509]]
NM_001922 [[95089557, 95092330], [95095689, 95095891], [95112344, 95112480], [95114263, 95114443], [95117886, 95118053], [95118811, 95118912], [95120999, 95121299], [95131214, 95131936]] [[95092151, 95092330], [95095689, 95095891], [95112344, 95112480], [95114263, 95114443], [95117886, 95118053], [95118811, 95118912], [95120999, 95121299], [95131214, 95131509]]
Promoter
Chrom Start End Description
chr13 95121086 95121093 CAGE_peak_11_at_DCT_5end
chr13 95121132 95121142 CAGE_peak_9_at_DCT_5end
chr13 95131432 95131447 CAGE_peak_4_at_DCT_5end
chr13 95131475 95131494 CAGE_peak_7_at_DCT_5end
chr13 95131687 95131693 CAGE_peak_6_at_DCT_5end
chr13 95131717 95131724 CAGE_peak_5_at_DCT_5end
chr13 95131731 95131756 CAGE_peak_3_at_DCT_5end
chr13 95131822 95131842 CAGE_peak_2_at_DCT_5end
chr13 95131926 95131944 CAGE_peak_1_at_DCT_5end
chr13 95132078 95132083 CAGE_peak_8_at_DCT_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I094594 94594378 94596890 2 [{'connected_gene': 'TGDS', 'score': 550.77}, {'connected_gene': 'GPR180', 'score': 65.15}, {'connected_gene': 'DCT', 'score': 0.25}]
chr13 GH13I094481 94481629 94482077 0.52 [{'connected_gene': 'TGDS', 'score': 13.68}, {'connected_gene': 'TRF-GAA1-5', 'score': 0.2}, {'connected_gene': 'DCT', 'score': 0.2}, {'connected_gene': 'GC13M094348', 'score': 0.12}]
chr13 GH13I094482 94482087 94482236 0.52 [{'connected_gene': 'TGDS', 'score': 13.68}, {'connected_gene': 'TRF-GAA1-5', 'score': 0.2}, {'connected_gene': 'DCT', 'score': 0.2}, {'connected_gene': 'GC13M094348', 'score': 0.12}]
chr13 GH13I094476 94476080 94476492 0.27 [{'connected_gene': 'DCT', 'score': 7.45}, {'connected_gene': 'TRF-GAA1-5', 'score': 0.19}, {'connected_gene': 'GC13M094348', 'score': 0.13}]
chr13 GH13I094545 94545696 94546776 0.38 [{'connected_gene': 'DCT', 'score': 17.25}, {'connected_gene': 'TRF-GAA1-5', 'score': 0.77}, {'connected_gene': 'GC13M094348', 'score': 0.08}]
chr13 GH13I094419 94419547 94419656 0.54 [{'connected_gene': 'DCT', 'score': 10.94}, {'connected_gene': 'GC13M094348', 'score': 0.2}, {'connected_gene': 'TRF-GAA1-5', 'score': 0.12}]
chr13 GH13I094548 94548200 94550710 1.25 [{'connected_gene': 'DCT', 'score': 562.55}, {'connected_gene': 'TRF-GAA1-5', 'score': 550.77}, {'connected_gene': 'GC13M094348', 'score': 0.08}]
chr13 GH13I094479 94479647 94479731 0.81 [{'connected_gene': 'DCT', 'score': 550.19}, {'connected_gene': 'TRF-GAA1-5', 'score': 0.19}, {'connected_gene': 'GC13M094348', 'score': 0.13}]
chr13 GH13I094432 94432539 94434074 0.79 [{'connected_gene': 'DCT', 'score': 4.94}, {'connected_gene': 'GC13M094348', 'score': 0.18}, {'connected_gene': 'TRF-GAA1-5', 'score': 0.13}]
chr13 GH13I094558 94558609 94560369 0.2 [{'connected_gene': 'GPR180', 'score': 31.32}, {'connected_gene': 'DCT', 'score': 0.44}, {'connected_gene': 'TGDS', 'score': 0.28}]
chr13 GH13I094484 94484107 94484256 0.2 [{'connected_gene': 'TRF-GAA1-5', 'score': 0.2}, {'connected_gene': 'DCT', 'score': 0.2}, {'connected_gene': 'GC13M094348', 'score': 0.12}]
chr13 GH13I094480 94480242 94481421 0.72 [{'connected_gene': 'TRF-GAA1-5', 'score': 0.2}, {'connected_gene': 'DCT', 'score': 0.2}, {'connected_gene': 'GC13M094348', 'score': 0.12}]

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