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
ENST00000545606 [[67663060, 67663565], [67675689, 67675833], [67686401, 67686556], [67688812, 67688936], [67691186, 67691443], [67691527, 67691633], [67692729, 67692875], [67696102, 67696395], [67698384, 67698526], [67698883, 67700377], [67701176, 67701272], [67703680, 67703850], [67703931, 67704096], [67705472, 67705580], [67706385, 67713731]] [[67663497, 67663565], [67675689, 67675833], [67686401, 67686556], [67688812, 67688936], [67691186, 67691443], [67691527, 67691633], [67692729, 67692875], [67696102, 67696395], [67698384, 67698526], [67698883, 67700377], [67701176, 67701272], [67703680, 67703850], [67703931, 67704096], [67705472, 67705580], [67706385, 67706610]]
ENST00000541058 [[67663169, 67663565], [67675689, 67675956]] None
ENST00000539109 [[67663497, 67663565], [67664210, 67664575]] None
ENST00000539434 [[67663505, 67663565], [67675689, 67675833], [67686401, 67686969]] None
ENST00000540525 [[67663680, 67664040], [67675689, 67675833], [67686401, 67686424]] [[67675693, 67675833], [67686401, 67686424]]
ENST00000535146 [[67688734, 67688936], [67691186, 67691443], [67691527, 67691628]] None
ENST00000540319 [[67688799, 67688936], [67691186, 67691443], [67691527, 67691633], [67692729, 67692875], [67696102, 67696395], [67698384, 67698526], [67698883, 67699092], [67701176, 67701272], [67703680, 67703850], [67703931, 67705161]] [[67688799, 67688936], [67691186, 67691443], [67691527, 67691633], [67692729, 67692875], [67696102, 67696395], [67698384, 67698526], [67698883, 67699092], [67701176, 67701215]]
ENST00000544619 [[67692751, 67692875], [67696102, 67696395], [67698384, 67698461], [67699322, 67700377], [67701176, 67701272], [67703680, 67703850], [67703931, 67704096], [67705472, 67705580], [67706385, 67708388]] [[67692751, 67692875], [67696102, 67696395], [67698384, 67698461], [67699322, 67700377], [67701176, 67701272], [67703680, 67703850], [67703931, 67704096], [67705472, 67705580], [67706385, 67706610]]
NM_018448 [[67663060, 67663565], [67675689, 67675833], [67686401, 67686556], [67688812, 67688936], [67691186, 67691443], [67691527, 67691633], [67692729, 67692875], [67696102, 67696395], [67698384, 67698526], [67698883, 67700377], [67701176, 67701272], [67703680, 67703850], [67703931, 67704096], [67705472, 67705580], [67706385, 67708472]] [[67663497, 67663565], [67675689, 67675833], [67686401, 67686556], [67688812, 67688936], [67691186, 67691443], [67691527, 67691633], [67692729, 67692875], [67696102, 67696395], [67698384, 67698526], [67698883, 67700377], [67701176, 67701272], [67703680, 67703850], [67703931, 67704096], [67705472, 67705580], [67706385, 67706610]]
NM_001329676 [[67663060, 67663565], [67675689, 67675833], [67685297, 67685407], [67686401, 67686556], [67688812, 67688936], [67691186, 67691443], [67691527, 67691633], [67692729, 67692875], [67696102, 67696395], [67698384, 67698526], [67698883, 67700377], [67701176, 67701272], [67703680, 67703850], [67703931, 67704096], [67705472, 67705580], [67706385, 67708472]] [[67675830, 67675833], [67685297, 67685407], [67686401, 67686556], [67688812, 67688936], [67691186, 67691443], [67691527, 67691633], [67692729, 67692875], [67696102, 67696395], [67698384, 67698526], [67698883, 67700377], [67701176, 67701272], [67703680, 67703850], [67703931, 67704096], [67705472, 67705580], [67706385, 67706610]]
NM_001329675 [[67663060, 67663565], [67667285, 67667406], [67675689, 67675833], [67686401, 67686556], [67688812, 67688936], [67691186, 67691443], [67691527, 67691633], [67692729, 67692875], [67696102, 67696395], [67698384, 67698526], [67698883, 67700377], [67701176, 67701272], [67703680, 67703850], [67703931, 67704096], [67705472, 67705580], [67706385, 67708472]] [[67675693, 67675833], [67686401, 67686556], [67688812, 67688936], [67691186, 67691443], [67691527, 67691633], [67692729, 67692875], [67696102, 67696395], [67698384, 67698526], [67698883, 67700377], [67701176, 67701272], [67703680, 67703850], [67703931, 67704096], [67705472, 67705580], [67706385, 67706610]]
NM_001329674 [[67663060, 67663565], [67667279, 67667406], [67675689, 67675833], [67686401, 67686556], [67688812, 67688936], [67691186, 67691443], [67691527, 67691633], [67692729, 67692875], [67696102, 67696395], [67698384, 67698526], [67698883, 67700377], [67701176, 67701272], [67703680, 67703850], [67703931, 67704096], [67705472, 67705580], [67706385, 67708472]] [[67675693, 67675833], [67686401, 67686556], [67688812, 67688936], [67691186, 67691443], [67691527, 67691633], [67692729, 67692875], [67696102, 67696395], [67698384, 67698526], [67698883, 67700377], [67701176, 67701272], [67703680, 67703850], [67703931, 67704096], [67705472, 67705580], [67706385, 67706610]]
Promoter
Chrom Start End Description
chr12 67663056 67663067 CAGE_peak_7_at_CAND1_5end
chr12 67663079 67663088 CAGE_peak_11_at_CAND1_5end
chr12 67663108 67663204 CAGE_peak_1_at_CAND1_5end
chr12 67663207 67663228 CAGE_peak_4_at_CAND1_5end
chr12 67663239 67663255 CAGE_peak_3_at_CAND1_5end
chr12 67663351 67663358 CAGE_peak_8_at_CAND1_5end
chr12 67663376 67663430 CAGE_peak_2_at_CAND1_5end
chr12 67663460 67663468 CAGE_peak_5_at_CAND1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I067067 67067729 67070564 1.29 [{'connected_gene': 'GRIP1', 'score': 557.26}, {'connected_gene': 'ENSG00000256248', 'score': 550.77}, {'connected_gene': 'CAND1', 'score': 15.09}, {'connected_gene': 'GGTA2P', 'score': 10.68}, {'connected_gene': 'ENSG00000279310', 'score': 0.77}, {'connected_gene': 'LOC102724421', 'score': 0.31}]
chr12 GH12I067719 67719780 67723687 1.02 [{'connected_gene': 'NUP107', 'score': 19.37}, {'connected_gene': 'CAND1', 'score': 13.55}, {'connected_gene': 'ENSG00000235872', 'score': 11.62}, {'connected_gene': 'LINC02421', 'score': 0.44}, {'connected_gene': 'LOC105369816', 'score': 0.26}]
chr12 GH12I067039 67039378 67041088 0.74 [{'connected_gene': 'CAND1', 'score': 11.6}, {'connected_gene': 'GRIP1', 'score': 0.31}, {'connected_gene': 'ENSG00000279310', 'score': 0.31}, {'connected_gene': 'ENSG00000256248', 'score': 0.31}, {'connected_gene': 'LOC102724421', 'score': 0.22}, {'connected_gene': 'GC12M066970', 'score': 0.2}]
chr12 GH12I067034 67034484 67035330 0.49 [{'connected_gene': 'CAND1', 'score': 21.85}, {'connected_gene': 'GRIP1', 'score': 0.29}, {'connected_gene': 'ENSG00000279310', 'score': 0.29}, {'connected_gene': 'ENSG00000256248', 'score': 0.29}, {'connected_gene': 'GC12M066970', 'score': 0.21}]
chr12 GH12I067320 67320482 67321642 0.46 [{'connected_gene': 'CAND1', 'score': 25.54}, {'connected_gene': 'GGTA2P', 'score': 10.77}, {'connected_gene': 'GC12P067317', 'score': 0.77}, {'connected_gene': 'MRPL40P1', 'score': 0.29}]
chr12 GH12I067592 67592158 67595180 1.02 [{'connected_gene': 'CAND1', 'score': 21.44}, {'connected_gene': 'ENSG00000235872', 'score': 10.53}, {'connected_gene': 'LINC02442', 'score': 0.77}, {'connected_gene': 'DYRK2', 'score': 0.23}]
chr12 GH12I067394 67394119 67395427 0.38 [{'connected_gene': 'CAND1', 'score': 9.16}, {'connected_gene': 'LOC105369813', 'score': 0.44}, {'connected_gene': 'NTAN1P3', 'score': 0.29}, {'connected_gene': 'LOC105369812', 'score': 0.26}]
chr12 GH12I067365 67365787 67367425 0.31 [{'connected_gene': 'CAND1', 'score': 14.1}, {'connected_gene': 'LOC105369812', 'score': 0.39}, {'connected_gene': 'LOC105369813', 'score': 0.34}]
chr12 GH12I067357 67357496 67360167 0.77 [{'connected_gene': 'CAND1', 'score': 14.81}, {'connected_gene': 'LOC105369812', 'score': 0.77}, {'connected_gene': 'LOC105369813', 'score': 0.31}]
chr12 GH12I067410 67410462 67412117 0.54 [{'connected_gene': 'CAND1', 'score': 7.76}, {'connected_gene': 'NTAN1P3', 'score': 0.39}, {'connected_gene': 'LOC105369813', 'score': 0.34}, {'connected_gene': 'LOC105369812', 'score': 0.22}]
chr12 GH12I067267 67267647 67272231 2.11 [{'connected_gene': 'CAND1', 'score': 565.26}, {'connected_gene': 'GC12M067262', 'score': 550.77}, {'connected_gene': 'GC12P067317', 'score': 0.25}]
chr12 GH12I067274 67274401 67274600 0.43 [{'connected_gene': 'CAND1', 'score': 0.44}, {'connected_gene': 'GC12P067317', 'score': 0.26}]
chr12 GH12I067388 67388361 67389118 0.54 [{'connected_gene': 'LOC105369813', 'score': 550.77}, {'connected_gene': 'CAND1', 'score': 10.58}, {'connected_gene': 'LOC105369812', 'score': 0.29}, {'connected_gene': 'NTAN1P3', 'score': 0.28}]
chr12 GH12I067354 67354287 67354764 0.4 [{'connected_gene': 'LOC105369812', 'score': 550.77}, {'connected_gene': 'CAND1', 'score': 14.07}, {'connected_gene': 'MRPL40P1', 'score': 0.77}]
chr12 GH12I067355 67355423 67356840 1 [{'connected_gene': 'LOC105369812', 'score': 550.77}, {'connected_gene': 'CAND1', 'score': 10.94}, {'connected_gene': 'LOC105369813', 'score': 0.29}]
chr12 GH12I067441 67441402 67442707 1.22 [{'connected_gene': 'LINC02420', 'score': 570.21}, {'connected_gene': 'ENSG00000235872', 'score': 10.22}, {'connected_gene': 'CAND1', 'score': 4.36}, {'connected_gene': 'NTAN1P3', 'score': 0.37}, {'connected_gene': 'LOC105369812', 'score': 0.17}]
chr12 GH12I067424 67424673 67432837 1.24 [{'connected_gene': 'LINC02420', 'score': 18.37}, {'connected_gene': 'ENSG00000235872', 'score': 10.17}, {'connected_gene': 'CAND1', 'score': 6.05}, {'connected_gene': 'NTAN1P3', 'score': 0.77}, {'connected_gene': 'LOC105369812', 'score': 0.19}]
chr12 GH12I066900 66900509 66901810 0.57 [{'connected_gene': 'GC12M066901', 'score': 550.77}, {'connected_gene': 'CAND1', 'score': 10.35}, {'connected_gene': 'GC12M066727', 'score': 0.1}, {'connected_gene': 'GRIP1', 'score': 0.1}, {'connected_gene': 'ENSG00000256248', 'score': 0.1}]