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
ENST00000361189 [[108670409, 108673057], [108679890, 108680012], [108680405, 108680520], [108691615, 108691727], [108698540, 108698723], [108704261, 108704447], [108713904, 108714955], [108717203, 108717404], [108719103, 108719221], [108745542, 108745695]] [[108672931, 108673057], [108679890, 108680012], [108680405, 108680520], [108691615, 108691727], [108698540, 108698723], [108704261, 108704447], [108713904, 108714955], [108717203, 108717404], [108719103, 108719134]]
ENST00000361557 [[108670413, 108673057], [108679890, 108680012], [108680405, 108680520], [108691615, 108691727], [108698540, 108698723], [108704261, 108704447], [108713904, 108714955], [108717203, 108717404], [108719103, 108719226]] [[108672931, 108673057], [108679890, 108680012], [108680405, 108680520], [108691615, 108691727], [108698540, 108698723], [108704261, 108704447], [108713904, 108714955], [108717203, 108717404], [108719103, 108719134]]
ENST00000511624 [[108714867, 108714955], [108717203, 108717404], [108719103, 108719221], [108744844, 108745017]] None
ENST00000512822 [[108719096, 108719221], [108726338, 108726459], [108744817, 108745015]] None
NM_014819 [[108670409, 108673057], [108679890, 108680012], [108680405, 108680520], [108691615, 108691727], [108698540, 108698723], [108704261, 108704447], [108713904, 108714955], [108717203, 108717404], [108719103, 108719221], [108745542, 108745675]] [[108672931, 108673057], [108679890, 108680012], [108680405, 108680520], [108691615, 108691727], [108698540, 108698723], [108704261, 108704447], [108713904, 108714955], [108717203, 108717404], [108719103, 108719134]]
Promoter
Chrom Start End Description
chr5 108744977 108744991 CAGE_peak_9_at_PJA2_5end
chr5 108744993 108745023 CAGE_peak_6_at_PJA2_5end
chr5 108745515 108745519 CAGE_peak_7_at_PJA2_5end
chr5 108745578 108745586 CAGE_peak_4_at_PJA2_5end
chr5 108745603 108745631 CAGE_peak_1_at_PJA2_5end
chr5 108745644 108745650 CAGE_peak_5_at_PJA2_5end
chr5 108745651 108745686 CAGE_peak_2_at_PJA2_5end
chr5 108745689 108745712 CAGE_peak_3_at_PJA2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I109406 109406888 109412486 2.59 [{'connected_gene': 'PJA2', 'score': 563.32}, {'connected_gene': 'LOC285638', 'score': 40.62}, {'connected_gene': 'LINC01023', 'score': 12.29}, {'connected_gene': 'MAN2A1', 'score': 3.6}, {'connected_gene': 'GC05P109401', 'score': 0.44}]
chr5 GH05I109506 109506401 109506800 0.2 [{'connected_gene': 'PJA2', 'score': 6.79}, {'connected_gene': 'ENSG00000248440', 'score': 0.44}, {'connected_gene': 'LOC105379117', 'score': 0.28}, {'connected_gene': 'GC05P109576', 'score': 0.2}]
chr5 GH05I109425 109425000 109425201 0.81 [{'connected_gene': 'PJA2', 'score': 0.37}, {'connected_gene': 'GC05P109401', 'score': 0.34}, {'connected_gene': 'ENSG00000248867', 'score': 0.34}]
chr5 GH05I109395 109395401 109395600 0.4 [{'connected_gene': 'PJA2', 'score': 7.44}, {'connected_gene': 'GC05P109401', 'score': 0.44}, {'connected_gene': 'GC05P109382', 'score': 0.39}]
chr5 GH05I109427 109427300 109428305 0.76 [{'connected_gene': 'PJA2', 'score': 0.37}, {'connected_gene': 'ENSG00000248867', 'score': 0.34}]
chr5 GH05I109643 109643828 109646644 0.72 [{'connected_gene': 'MAN2A1', 'score': 5.89}, {'connected_gene': 'PJA2', 'score': 5.56}, {'connected_gene': 'RN7SKP230', 'score': 4.45}, {'connected_gene': 'LOC105379118', 'score': 0.34}, {'connected_gene': 'PIR59063', 'score': 0.29}]
chr5 GH05I109628 109628303 109631078 0.38 [{'connected_gene': 'LOC285638', 'score': 9.05}, {'connected_gene': 'PJA2', 'score': 5.57}, {'connected_gene': 'ENSG00000271849', 'score': 4.99}, {'connected_gene': 'MAN2A1', 'score': 4.9}, {'connected_gene': 'PIR59063', 'score': 0.37}, {'connected_gene': 'LOC105379118', 'score': 0.28}]
chr5 GH05I109614 109614774 109615732 0.38 [{'connected_gene': 'LOC285638', 'score': 11.69}, {'connected_gene': 'PJA2', 'score': 5.61}, {'connected_gene': 'PIR59063', 'score': 0.77}, {'connected_gene': 'LOC105379118', 'score': 0.23}]
chr5 GH05I109454 109454294 109456861 1.33 [{'connected_gene': 'LOC285638', 'score': 23.09}, {'connected_gene': 'PJA2', 'score': 8.54}, {'connected_gene': 'ENSG00000248867', 'score': 0.44}, {'connected_gene': 'GC05P109466', 'score': 0.39}, {'connected_gene': 'GC05P109465', 'score': 0.39}]
chr5 GH05I109412 109412699 109414229 1.18 [{'connected_gene': 'LOC285638', 'score': 12.88}, {'connected_gene': 'PJA2', 'score': 7.93}, {'connected_gene': 'GC05P109401', 'score': 0.39}, {'connected_gene': 'ENSG00000248867', 'score': 0.28}]
chr5 GH05I109328 109328601 109330888 0.66 [{'connected_gene': 'LOC285638', 'score': 555.05}, {'connected_gene': 'PJA2', 'score': 12.79}, {'connected_gene': 'GC05P109316', 'score': 0.39}]
chr5 GH05I109396 109395001 109395200 0.4 [{'connected_gene': 'LOC285638', 'score': 31.11}, {'connected_gene': 'GC05P109401', 'score': 0.44}, {'connected_gene': 'PJA2', 'score': 0.39}, {'connected_gene': 'GC05P109382', 'score': 0.39}]
chr5 GH05I109334 109334858 109336047 0.2 [{'connected_gene': 'GC05P109335', 'score': 550.77}, {'connected_gene': 'GC05P109334', 'score': 550.77}, {'connected_gene': 'PJA2', 'score': 7.24}, {'connected_gene': 'PIR56439', 'score': 0.31}, {'connected_gene': 'GC05M109363', 'score': 0.31}]
chr5 GH05I109403 109403409 109403468 0.61 [{'connected_gene': 'GC05P109401', 'score': 550.77}, {'connected_gene': 'PJA2', 'score': 550.44}]

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