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
ENST00000299663 [[8685900, 8687405], [8688685, 8688801], [8689710, 8689862], [8691812, 8691902], [8692450, 8692543], [8693356, 8693559]] [[8687233, 8687405], [8688685, 8688801], [8689710, 8689862], [8691812, 8691902], [8692450, 8692543], [8693356, 8693393]]
ENST00000446457 [[8687079, 8687405], [8691737, 8691902], [8692450, 8692543], [8693356, 8693473]] [[8691753, 8691902], [8692450, 8692543], [8693356, 8693393]]
ENST00000545274 [[8687104, 8687405], [8688685, 8688801], [8691795, 8691902], [8692450, 8692543], [8693356, 8693469]] [[8687233, 8687405], [8688685, 8688801], [8691795, 8691902], [8692450, 8692543], [8693356, 8693393]]
ENST00000537698 [[8687176, 8687405], [8689710, 8689862], [8691812, 8691851]] [[8687312, 8687405], [8689710, 8689862], [8691812, 8691851]]
ENST00000450725 [[8687358, 8687405], [8688685, 8688801], [8691737, 8691902], [8692450, 8692543], [8693356, 8693501]] [[8691753, 8691902], [8692450, 8692543], [8693356, 8693393]]
ENST00000446809 [[8691549, 8691902], [8692450, 8692543], [8693356, 8693497]] None
NM_014358 [[8685900, 8687405], [8688685, 8688801], [8689710, 8689862], [8691812, 8691902], [8692450, 8692543], [8693356, 8693558]] [[8687233, 8687405], [8688685, 8688801], [8689710, 8689862], [8691812, 8691902], [8692450, 8692543], [8693356, 8693393]]
Promoter
Chrom Start End Description
chr12 8693475 8693507 CAGE_peak_1_at_CLEC4E_5end
chr12 8693523 8693534 CAGE_peak_3_at_CLEC4E_5end
chr12 8693539 8693561 CAGE_peak_2_at_CLEC4E_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I008572 8572377 8573071 0.48 [{'connected_gene': 'CLEC6A', 'score': 7.76}, {'connected_gene': 'CLEC4E', 'score': 7.34}, {'connected_gene': 'CLEC4A', 'score': 7.0}, {'connected_gene': 'M6PR', 'score': 3.16}, {'connected_gene': 'CLEC4D', 'score': 1.89}, {'connected_gene': 'NECAP1', 'score': 1.24}, {'connected_gene': 'ENSG00000255801', 'score': 0.44}, {'connected_gene': 'GC12M008563', 'score': 0.37}, {'connected_gene': 'GC12M008571', 'score': 0.34}]
chr12 GH12I008904 8904846 8904961 0.44 [{'connected_gene': 'CLEC6A', 'score': 11.41}, {'connected_gene': 'CLEC4E', 'score': 9.67}, {'connected_gene': 'M6PR', 'score': 8.79}, {'connected_gene': 'CLEC4D', 'score': 2.25}, {'connected_gene': 'PHC1', 'score': 2.02}, {'connected_gene': 'ENSG00000282022', 'score': 0.39}, {'connected_gene': 'A2ML1-AS1', 'score': 0.19}]
chr12 GH12I008672 8672477 8672740 0.39 [{'connected_gene': 'CLEC6A', 'score': 14.6}, {'connected_gene': 'CLEC4E', 'score': 13.35}, {'connected_gene': 'M6PR', 'score': 7.86}, {'connected_gene': 'ENSG00000249790', 'score': 6.33}, {'connected_gene': 'CLEC4D', 'score': 2.64}, {'connected_gene': 'ENSG00000255829', 'score': 0.44}, {'connected_gene': 'LOC101060064', 'score': 0.44}]
chr12 GH12I008449 8449186 8450039 0.2 [{'connected_gene': 'CLEC6A', 'score': 10.81}, {'connected_gene': 'CLEC4E', 'score': 10.33}, {'connected_gene': 'OR7E149P', 'score': 0.39}]
chr12 GH12I008639 8639413 8640154 0.31 [{'connected_gene': 'MFAP5', 'score': 13.03}, {'connected_gene': 'ENSG00000255829', 'score': 13.03}, {'connected_gene': 'CLEC4E', 'score': 10.91}, {'connected_gene': 'A2ML1', 'score': 10.25}, {'connected_gene': 'A2ML1-AS2', 'score': 10.25}, {'connected_gene': 'RNU6-275P', 'score': 10.04}, {'connected_gene': 'HADHAP2', 'score': 0.44}]
chr12 GH12I008637 8637345 8637494 0.31 [{'connected_gene': 'MFAP5', 'score': 13.0}, {'connected_gene': 'ENSG00000255829', 'score': 13.0}, {'connected_gene': 'CLEC4E', 'score': 10.91}, {'connected_gene': 'A2ML1-AS2', 'score': 10.25}, {'connected_gene': 'A2ML1', 'score': 10.25}, {'connected_gene': 'RNU6-275P', 'score': 10.04}, {'connected_gene': 'HADHAP2', 'score': 0.77}]
chr12 GH12I008813 8813263 8814718 0.81 [{'connected_gene': 'LOC642846', 'score': 4.41}, {'connected_gene': 'PHC1', 'score': 3.21}, {'connected_gene': 'CLEC6A', 'score': 1.51}, {'connected_gene': 'M6PR', 'score': 1.45}, {'connected_gene': 'CLEC4E', 'score': 1.21}, {'connected_gene': 'A2ML1-AS2', 'score': 0.44}, {'connected_gene': 'A2ML1-AS1', 'score': 0.37}, {'connected_gene': 'ENSG00000249790', 'score': 0.31}]
chr12 GH12I008612 8612849 8612908 0.87 [{'connected_gene': 'AICDA', 'score': 550.77}, {'connected_gene': 'CLEC4E', 'score': 11.5}, {'connected_gene': 'ENSG00000252727', 'score': 0.37}]
chr12 GH12I008610 8610585 8611928 1.06 [{'connected_gene': 'AICDA', 'score': 558.03}, {'connected_gene': 'CLEC4E', 'score': 11.5}, {'connected_gene': 'ENSG00000252727', 'score': 0.39}]
chr12 GH12I008155 8155151 8155325 0.22 [{'connected_gene': 'ZNF705A', 'score': 550.77}, {'connected_gene': 'CLEC4A', 'score': 15.33}, {'connected_gene': 'CLEC4E', 'score': 12.25}, {'connected_gene': 'C3AR1', 'score': 10.51}, {'connected_gene': 'CLEC6A', 'score': 9.04}, {'connected_gene': 'NECAP1', 'score': 1.88}, {'connected_gene': 'CLEC4D', 'score': 1.51}, {'connected_gene': 'GCSHP4', 'score': 0.39}, {'connected_gene': 'ENSG00000284393', 'score': 0.37}]
chr12 GH12I008902 8902538 8903561 0.54 [{'connected_gene': 'M6PR', 'score': 18.74}, {'connected_gene': 'CLEC6A', 'score': 9.59}, {'connected_gene': 'CLEC4E', 'score': 7.28}, {'connected_gene': 'CLEC2B', 'score': 4.24}, {'connected_gene': 'CLEC4D', 'score': 2.0}, {'connected_gene': 'PHC1', 'score': 0.39}, {'connected_gene': 'ENSG00000282022', 'score': 0.39}, {'connected_gene': 'A2ML1-AS1', 'score': 0.19}]
chr12 GH12I008634 8634854 8637239 0.31 [{'connected_gene': 'HADHAP2', 'score': 550.77}, {'connected_gene': 'MFAP5', 'score': 13.0}, {'connected_gene': 'ENSG00000255829', 'score': 13.0}, {'connected_gene': 'CLEC4E', 'score': 10.91}, {'connected_gene': 'A2ML1-AS2', 'score': 10.25}, {'connected_gene': 'A2ML1', 'score': 10.25}, {'connected_gene': 'RNU6-275P', 'score': 10.04}, {'connected_gene': 'RIMKLB', 'score': 6.33}]
chr12 GH12I008515 8514001 8515800 0.2 [{'connected_gene': 'CLEC4D', 'score': 17.48}, {'connected_gene': 'CLEC4E', 'score': 8.76}, {'connected_gene': 'SUPT4H1P2', 'score': 0.77}, {'connected_gene': 'GC12P008530', 'score': 0.37}]
chr12 GH12I008475 8475418 8476249 0.43 [{'connected_gene': 'CLEC4E', 'score': 10.48}, {'connected_gene': 'GC12P008485', 'score': 0.44}, {'connected_gene': 'CLEC6A', 'score': 0.37}, {'connected_gene': 'RPL15P17', 'score': 0.37}]
chr12 GH12I008466 8466001 8466853 0.2 [{'connected_gene': 'CLEC4E', 'score': 10.44}, {'connected_gene': 'CLEC6A', 'score': 9.43}, {'connected_gene': 'A2ML1', 'score': 9.14}, {'connected_gene': 'A2ML1-AS2', 'score': 9.14}, {'connected_gene': 'CLEC4D', 'score': 7.62}, {'connected_gene': 'RPL15P17', 'score': 0.44}, {'connected_gene': 'GC12P008485', 'score': 0.37}]
chr12 GH12I008539 8539201 8542000 0.7 [{'connected_gene': 'CLEC4E', 'score': 569.57}, {'connected_gene': 'LINC00937', 'score': 7.01}, {'connected_gene': 'GC12P008530', 'score': 0.44}]
chr12 GH12I008492 8492401 8493874 1.08 [{'connected_gene': 'CLEC4E', 'score': 24.6}, {'connected_gene': 'CLEC4D', 'score': 24.33}, {'connected_gene': 'CLEC6A', 'score': 14.28}, {'connected_gene': 'CLEC4A', 'score': 7.88}, {'connected_gene': 'LINC00937', 'score': 6.98}, {'connected_gene': 'NECAP1', 'score': 6.88}, {'connected_gene': 'KLRG1', 'score': 5.28}, {'connected_gene': 'C3AR1', 'score': 3.02}, {'connected_gene': 'M6PR', 'score': 1.97}, {'connected_gene': 'FOXJ2', 'score': 1.57}, {'connected_gene': 'GC12P008489', 'score': 0.77}]
chr12 GH12I008617 8617522 8620265 1.2 [{'connected_gene': 'CLEC4E', 'score': 17.72}, {'connected_gene': 'A2ML1', 'score': 10.21}, {'connected_gene': 'A2ML1-AS2', 'score': 10.21}, {'connected_gene': 'CLEC6A', 'score': 9.75}, {'connected_gene': 'M6PR', 'score': 4.32}, {'connected_gene': 'CLEC4A', 'score': 2.29}, {'connected_gene': 'CLEC4D', 'score': 1.91}, {'connected_gene': 'GC12P008623', 'score': 0.77}, {'connected_gene': 'AICDA', 'score': 0.44}]
chr12 GH12I008609 8609001 8609800 0.88 [{'connected_gene': 'CLEC4E', 'score': 11.88}, {'connected_gene': 'A2ML1', 'score': 9.53}, {'connected_gene': 'A2ML1-AS2', 'score': 9.53}, {'connected_gene': 'KLRB1', 'score': 4.8}, {'connected_gene': 'AICDA', 'score': 0.77}, {'connected_gene': 'ENSG00000252727', 'score': 0.39}]
chr12 GH12I008643 8643915 8646302 0.96 [{'connected_gene': 'CLEC4E', 'score': 10.9}, {'connected_gene': 'A2ML1', 'score': 10.26}, {'connected_gene': 'A2ML1-AS2', 'score': 10.26}, {'connected_gene': 'RNU6-275P', 'score': 10.03}, {'connected_gene': 'RIMKLB', 'score': 6.52}, {'connected_gene': 'HADHAP2', 'score': 0.39}, {'connected_gene': 'MFAP5', 'score': 0.37}]
chr12 GH12I008544 8544345 8544494 0.62 [{'connected_gene': 'CLEC4E', 'score': 16.54}, {'connected_gene': 'A2ML1', 'score': 10.12}, {'connected_gene': 'A2ML1-AS2', 'score': 10.12}, {'connected_gene': 'LOC105369645', 'score': 0.34}]
chr12 GH12I008579 8579081 8580363 0.31 [{'connected_gene': 'CLEC4E', 'score': 11.26}, {'connected_gene': 'RNU6-275P', 'score': 10.3}, {'connected_gene': 'A2ML1', 'score': 9.66}, {'connected_gene': 'A2ML1-AS2', 'score': 9.66}, {'connected_gene': 'LINC00937', 'score': 4.64}, {'connected_gene': 'GC12M008563', 'score': 0.39}, {'connected_gene': 'GC12M008571', 'score': 0.39}, {'connected_gene': 'ENSG00000255801', 'score': 0.39}]
chr12 GH12I008628 8628486 8630617 1.01 [{'connected_gene': 'CLEC4E', 'score': 10.52}, {'connected_gene': 'ENSG00000280345', 'score': 0.77}, {'connected_gene': 'GC12P008623', 'score': 0.44}]
chr12 GH12I008870 8870599 8871421 0.2 [{'connected_gene': 'A2ML1', 'score': 11.0}, {'connected_gene': 'A2ML1-AS2', 'score': 10.99}, {'connected_gene': 'CLEC4E', 'score': 10.06}, {'connected_gene': 'PHC1', 'score': 0.26}, {'connected_gene': 'ENSG00000282022', 'score': 0.26}, {'connected_gene': 'A2ML1-AS1', 'score': 0.26}]
chr12 GH12I008554 8554801 8555000 0.46 [{'connected_gene': 'A2ML1', 'score': 9.68}, {'connected_gene': 'A2ML1-AS2', 'score': 9.68}, {'connected_gene': 'LOC105369645', 'score': 0.44}, {'connected_gene': 'CLEC4E', 'score': 0.39}, {'connected_gene': 'ENSG00000255801', 'score': 0.39}]
chr12 GH12I008563 8563425 8563614 0.2 [{'connected_gene': 'LOC105369645', 'score': 550.77}, {'connected_gene': 'CLEC4E', 'score': 11.55}, {'connected_gene': 'ENSG00000255801', 'score': 0.77}, {'connected_gene': 'GC12M008563', 'score': 0.31}]
chr12 GH12I009033 9033403 9033534 0.24 [{'connected_gene': 'KLRG1', 'score': 10.91}, {'connected_gene': 'CLEC4E', 'score': 4.94}, {'connected_gene': 'M6PR', 'score': 3.27}, {'connected_gene': 'VDAC2P2', 'score': 0.77}, {'connected_gene': 'HNRNPA1P34', 'score': 0.77}]
chr12 GH12I007858 7858795 7862184 1.56 [{'connected_gene': 'RPS20P29', 'score': 550.77}, {'connected_gene': 'SLC2A14', 'score': 12.85}, {'connected_gene': 'NANOGP1', 'score': 12.85}, {'connected_gene': 'ENSG00000255356', 'score': 12.84}, {'connected_gene': 'LRRC23', 'score': 12.23}, {'connected_gene': 'DEFB109F', 'score': 10.79}, {'connected_gene': 'FAM66C', 'score': 10.59}, {'connected_gene': 'CLEC4E', 'score': 4.78}, {'connected_gene': 'LOC100130582', 'score': 0.39}]
chr12 GH12I008565 8565601 8567800 0.31 [{'connected_gene': 'ENSG00000255801', 'score': 561.33}, {'connected_gene': 'CLEC4E', 'score': 20.98}, {'connected_gene': 'LOC105369645', 'score': 0.77}, {'connected_gene': 'GC12M008563', 'score': 0.34}]
chr12 GH12I008560 8560721 8561734 0.2 [{'connected_gene': 'ENSG00000252727', 'score': 11.76}, {'connected_gene': 'RNU6-275P', 'score': 10.32}, {'connected_gene': 'ENSG00000255801', 'score': 10.14}, {'connected_gene': 'LOC105369645', 'score': 0.77}, {'connected_gene': 'CLEC4E', 'score': 0.34}]
chr12 GH12I008562 8562425 8562554 0.38 [{'connected_gene': 'ENSG00000252727', 'score': 11.76}, {'connected_gene': 'RNU6-275P', 'score': 10.32}, {'connected_gene': 'LOC105369645', 'score': 0.77}, {'connected_gene': 'ENSG00000255801', 'score': 0.44}, {'connected_gene': 'CLEC4E', 'score': 0.34}]

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