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
ENST00000538780 [[110152032, 110152702], [110181905, 110182033], [110205816, 110208312]] [[110181951, 110182033], [110205816, 110207093]]
ENST00000543653 [[110152539, 110152702], [110160336, 110160630]] None
ENST00000358906 [[110172571, 110172705], [110181919, 110182033], [110205816, 110208299]] [[110181951, 110182033], [110205816, 110207093]]
NM_032829 [[110152186, 110152702], [110181905, 110182033], [110205816, 110208312]] [[110181951, 110182033], [110205816, 110207093]]
Promoter
Chrom Start End Description
chr12 110151623 110151644 CAGE_peak_1_at_C12orf34_5end
chr12 110181989 110181991 CAGE_peak_3_at_C12orf34_5end
chr12 110205871 110205882 CAGE_peak_4_at_C12orf34_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I109501 109501953 109505407 0.56 [{'connected_gene': 'SART3', 'score': 23.21}, {'connected_gene': 'KCTD10', 'score': 19.95}, {'connected_gene': 'IFT81', 'score': 12.76}, {'connected_gene': 'ALKBH2', 'score': 12.63}, {'connected_gene': 'UBE3B', 'score': 11.38}, {'connected_gene': 'ENSG00000255655', 'score': 10.96}, {'connected_gene': 'RNU4-32P', 'score': 10.69}, {'connected_gene': 'MVK', 'score': 10.69}, {'connected_gene': 'MMAB', 'score': 10.68}, {'connected_gene': 'ANAPC7', 'score': 10.67}, {'connected_gene': 'FAM222A', 'score': 10.55}, {'connected_gene': 'TRPV4', 'score': 10.32}, {'connected_gene': 'MYO1H', 'score': 7.45}, {'connected_gene': 'PIR31921', 'score': 0.44}, {'connected_gene': 'GC12P109501', 'score': 0.44}, {'connected_gene': 'PIR34953', 'score': 0.29}]
chr12 GH12I109709 109709125 109711260 1.04 [{'connected_gene': 'UBE3B', 'score': 11.58}, {'connected_gene': 'MMAB', 'score': 11.03}, {'connected_gene': 'MVK', 'score': 11.03}, {'connected_gene': 'RNU4-32P', 'score': 11.02}, {'connected_gene': 'FAM222A', 'score': 0.77}, {'connected_gene': 'RN7SKP250', 'score': 0.25}, {'connected_gene': 'GC12M109663', 'score': 0.25}]
chr12 GH12I109648 109648419 109649795 0.56 [{'connected_gene': 'FAM222A-AS1', 'score': 11.35}, {'connected_gene': 'FAM222A', 'score': 5.54}, {'connected_gene': 'UBE3B', 'score': 5.29}, {'connected_gene': 'KCTD10', 'score': 4.78}, {'connected_gene': 'MMAB', 'score': 4.71}, {'connected_gene': 'TRPV4', 'score': 4.59}, {'connected_gene': 'RN7SKP250', 'score': 0.39}, {'connected_gene': 'GC12M109663', 'score': 0.39}, {'connected_gene': 'GC12M109613', 'score': 0.29}]
chr12 GH12I109734 109734225 109735100 0.66 [{'connected_gene': 'FAM222A-AS1', 'score': 16.61}, {'connected_gene': 'FAM222A', 'score': 10.93}, {'connected_gene': 'TRPV4', 'score': 9.94}, {'connected_gene': 'GC12P109715', 'score': 0.37}]
chr12 GH12I109736 109736886 109743354 1.12 [{'connected_gene': 'FAM222A-AS1', 'score': 17.58}, {'connected_gene': 'FAM222A', 'score': 16.19}, {'connected_gene': 'TRPV4', 'score': 9.95}, {'connected_gene': 'GC12P109715', 'score': 0.34}]
chr12 GH12I109751 109751531 109753452 0.77 [{'connected_gene': 'FAM222A-AS1', 'score': 17.35}, {'connected_gene': 'FAM222A', 'score': 11.29}, {'connected_gene': 'MMAB', 'score': 10.73}, {'connected_gene': 'MVK', 'score': 10.73}, {'connected_gene': 'RNU4-32P', 'score': 10.72}, {'connected_gene': 'GLTP', 'score': 10.66}, {'connected_gene': 'ENSG00000249094', 'score': 10.66}, {'connected_gene': 'GC12P109715', 'score': 0.28}]
chr12 GH12I109746 109745121 109745669 0.46 [{'connected_gene': 'FAM222A-AS1', 'score': 5.35}, {'connected_gene': 'GC12P109715', 'score': 0.31}, {'connected_gene': 'FAM222A', 'score': 0.29}]
chr12 GH12I109758 109758863 109758865 0.4 [{'connected_gene': 'FAM222A-AS1', 'score': 0.39}, {'connected_gene': 'GC12P109715', 'score': 0.26}, {'connected_gene': 'FAM222A', 'score': 0.26}]
chr12 GH12I109767 109767715 109768794 0.2 [{'connected_gene': 'FAM222A-AS1', 'score': 0.44}, {'connected_gene': 'GC12P109715', 'score': 0.23}, {'connected_gene': 'FAM222A', 'score': 0.23}]
chr12 GH12I109745 109745696 109745837 0.31 [{'connected_gene': 'FAM222A-AS1', 'score': 0.31}, {'connected_gene': 'GC12P109715', 'score': 0.29}, {'connected_gene': 'FAM222A', 'score': 0.29}]
chr12 GH12I109737 109736676 109736865 0.89 [{'connected_gene': 'FAM222A', 'score': 10.93}, {'connected_gene': 'FAM222A-AS1', 'score': 10.63}, {'connected_gene': 'TRPV4', 'score': 9.94}, {'connected_gene': 'GC12P109715', 'score': 0.34}]
chr12 GH12I109650 109650412 109652085 0.54 [{'connected_gene': 'FAM222A', 'score': 16.26}, {'connected_gene': 'FAM222A-AS1', 'score': 10.72}, {'connected_gene': 'MMAB', 'score': 10.37}, {'connected_gene': 'MVK', 'score': 10.37}, {'connected_gene': 'RNU4-32P', 'score': 10.37}, {'connected_gene': 'TRPV4', 'score': 4.69}, {'connected_gene': 'RN7SKP250', 'score': 0.39}, {'connected_gene': 'GC12M109663', 'score': 0.39}, {'connected_gene': 'GC12M109613', 'score': 0.29}]
chr12 GH12I109760 109760081 109761365 0.94 [{'connected_gene': 'FAM222A', 'score': 5.65}, {'connected_gene': 'FAM222A-AS1', 'score': 4.63}, {'connected_gene': 'GC12P109715', 'score': 0.25}]
chr12 GH12I109678 109678347 109681229 0.83 [{'connected_gene': 'FAM222A', 'score': 5.11}, {'connected_gene': 'USP30', 'score': 4.67}, {'connected_gene': 'RN7SKP250', 'score': 0.37}, {'connected_gene': 'GC12M109663', 'score': 0.37}]
chr12 GH12I109655 109655232 109659181 0.52 [{'connected_gene': 'FAM222A', 'score': 16.15}, {'connected_gene': 'TRPV4', 'score': 14.73}, {'connected_gene': 'FAM222A-AS1', 'score': 10.98}, {'connected_gene': 'MMAB', 'score': 10.65}, {'connected_gene': 'MVK', 'score': 10.65}, {'connected_gene': 'RNU4-32P', 'score': 10.64}, {'connected_gene': 'KCTD10', 'score': 7.57}, {'connected_gene': 'RN7SKP250', 'score': 0.44}, {'connected_gene': 'GC12M109663', 'score': 0.44}, {'connected_gene': 'GC12M109613', 'score': 0.26}]
chr12 GH12I109777 109777696 109777805 0.91 [{'connected_gene': 'FAM222A', 'score': 11.4}, {'connected_gene': 'TRPV4', 'score': 11.15}, {'connected_gene': 'FAM222A-AS1', 'score': 0.77}, {'connected_gene': 'MIR4497', 'score': 0.22}]
chr12 GH12I109725 109725350 109725409 0.7 [{'connected_gene': 'FAM222A', 'score': 550.39}, {'connected_gene': 'TRPV4', 'score': 10.46}, {'connected_gene': 'GC12P109715', 'score': 0.44}, {'connected_gene': 'FAM222A-AS1', 'score': 0.25}]
chr12 GH12I109630 109630408 109632876 0.52 [{'connected_gene': 'FAM222A', 'score': 11.04}, {'connected_gene': 'TRPV4', 'score': 10.37}, {'connected_gene': 'KCTD10', 'score': 9.37}, {'connected_gene': 'UBE3B', 'score': 7.28}, {'connected_gene': 'MVK', 'score': 4.63}, {'connected_gene': 'GC12M109613', 'score': 0.37}, {'connected_gene': 'RN7SKP250', 'score': 0.29}, {'connected_gene': 'GC12M109663', 'score': 0.29}]
chr12 GH12I109629 109629278 109629782 0.31 [{'connected_gene': 'FAM222A', 'score': 11.04}, {'connected_gene': 'TRPV4', 'score': 10.37}, {'connected_gene': 'GC12M109613', 'score': 0.39}, {'connected_gene': 'RN7SKP250', 'score': 0.29}, {'connected_gene': 'GC12M109663', 'score': 0.29}]
chr12 GH12I109625 109625114 109625486 1.02 [{'connected_gene': 'FAM222A', 'score': 14.94}, {'connected_gene': 'MMAB', 'score': 10.96}, {'connected_gene': 'MVK', 'score': 10.96}, {'connected_gene': 'RNU4-32P', 'score': 10.95}, {'connected_gene': 'C12orf76', 'score': 2.23}, {'connected_gene': 'TCHP', 'score': 1.3}, {'connected_gene': 'GC12M109613', 'score': 0.44}, {'connected_gene': 'RN7SKP250', 'score': 0.28}, {'connected_gene': 'GC12M109663', 'score': 0.28}]
chr12 GH12I109712 109712619 109712965 0.38 [{'connected_gene': 'FAM222A', 'score': 555.16}, {'connected_gene': 'MMAB', 'score': 11.03}, {'connected_gene': 'MVK', 'score': 11.03}, {'connected_gene': 'RNU4-32P', 'score': 11.02}, {'connected_gene': 'RN7SKP250', 'score': 0.25}, {'connected_gene': 'GC12M109663', 'score': 0.25}]
chr12 GH12I109699 109699259 109700389 0.49 [{'connected_gene': 'FAM222A', 'score': 6.15}, {'connected_gene': 'FAM216A', 'score': 4.75}, {'connected_gene': 'RN7SKP250', 'score': 0.28}, {'connected_gene': 'GC12M109663', 'score': 0.28}]
chr12 GH12I109689 109689401 109689600 0.43 [{'connected_gene': 'FAM222A', 'score': 0.34}, {'connected_gene': 'RN7SKP250', 'score': 0.31}, {'connected_gene': 'GC12M109663', 'score': 0.31}]
chr12 GH12I109686 109686502 109689057 0.38 [{'connected_gene': 'FAM222A', 'score': 4.65}, {'connected_gene': 'RN7SKP250', 'score': 0.34}, {'connected_gene': 'GC12M109663', 'score': 0.34}]
chr12 GH12I109695 109695577 109696644 1.06 [{'connected_gene': 'FAM222A', 'score': 0.37}, {'connected_gene': 'RN7SKP250', 'score': 0.29}, {'connected_gene': 'GC12M109663', 'score': 0.29}]
chr12 GH12I109879 109878007 109878230 0.55 [{'connected_gene': 'TCHP', 'score': 2.06}, {'connected_gene': 'FAM222A', 'score': 1.62}, {'connected_gene': 'GLTP', 'score': 0.77}, {'connected_gene': 'RN7SL441P', 'score': 0.39}]
chr12 GH12I109559 109559987 109561780 0.2 [{'connected_gene': 'KCTD10', 'score': 21.41}, {'connected_gene': 'FAM222A', 'score': 10.13}, {'connected_gene': 'TRPV4', 'score': 9.98}, {'connected_gene': 'ENSG00000255655', 'score': 9.64}, {'connected_gene': 'MVK', 'score': 8.84}, {'connected_gene': 'MMAB', 'score': 7.2}, {'connected_gene': 'RNU4-32P', 'score': 0.44}, {'connected_gene': 'GC12M109568', 'score': 0.44}, {'connected_gene': 'PIR34953', 'score': 0.31}]
chr12 GH12I109764 109764489 109767071 0.49 [{'connected_gene': 'TRPV4', 'score': 4.35}, {'connected_gene': 'FAM222A-AS1', 'score': 0.44}, {'connected_gene': 'GC12P109715', 'score': 0.23}, {'connected_gene': 'FAM222A', 'score': 0.23}]
chr12 GH12I109730 109730566 109733362 0.52 [{'connected_gene': 'TRPV4', 'score': 15.56}, {'connected_gene': 'FAM222A-AS1', 'score': 11.25}, {'connected_gene': 'GLTP', 'score': 10.83}, {'connected_gene': 'ENSG00000249094', 'score': 10.83}, {'connected_gene': 'FAM222A', 'score': 5.34}, {'connected_gene': 'ATP2A2', 'score': 4.39}, {'connected_gene': 'GC12P109715', 'score': 0.37}]
chr12 GH12I109726 109723456 109723465 0.66 [{'connected_gene': 'TRPV4', 'score': 10.46}, {'connected_gene': 'GC12P109715', 'score': 0.44}, {'connected_gene': 'FAM222A', 'score': 0.44}, {'connected_gene': 'FAM222A-AS1', 'score': 0.23}]
chr12 GH12I109723 109723556 109723605 0.69 [{'connected_gene': 'TRPV4', 'score': 10.46}, {'connected_gene': 'GC12P109715', 'score': 0.44}, {'connected_gene': 'FAM222A', 'score': 0.44}, {'connected_gene': 'FAM222A-AS1', 'score': 0.25}]
chr12 GH12I109724 109723805 109724407 0.43 [{'connected_gene': 'TRPV4', 'score': 10.46}, {'connected_gene': 'GC12P109715', 'score': 0.44}, {'connected_gene': 'FAM222A', 'score': 0.44}, {'connected_gene': 'FAM222A-AS1', 'score': 0.25}]
chr12 GH12I109700 109700394 109702363 0.46 [{'connected_gene': 'TRPV4', 'score': 10.1}, {'connected_gene': 'FAM222A', 'score': 5.31}, {'connected_gene': 'RN7SKP250', 'score': 0.28}, {'connected_gene': 'GC12M109663', 'score': 0.28}]
chr12 GH12I109878 109878836 109882221 2.41 [{'connected_gene': 'GLTP', 'score': 565.03}, {'connected_gene': 'TCHP', 'score': 550.77}, {'connected_gene': 'ENSG00000249094', 'score': 550.77}, {'connected_gene': 'RNU4-32P', 'score': 11.47}, {'connected_gene': 'KCTD10', 'score': 11.15}, {'connected_gene': 'IFT81', 'score': 10.62}, {'connected_gene': 'ANKRD13A', 'score': 10.46}, {'connected_gene': 'PPP1CC', 'score': 10.14}, {'connected_gene': 'FAM216A', 'score': 9.89}, {'connected_gene': 'UBE3B', 'score': 9.72}, {'connected_gene': 'ALKBH2', 'score': 9.66}, {'connected_gene': 'C12orf76', 'score': 3.73}, {'connected_gene': 'FAM222A', 'score': 1.27}]
chr12 GH12I109727 109725676 109728167 0.93 [{'connected_gene': 'GLTP', 'score': 10.82}, {'connected_gene': 'ENSG00000249094', 'score': 10.82}, {'connected_gene': 'TRPV4', 'score': 10.68}, {'connected_gene': 'FAM222A', 'score': 6.6}, {'connected_gene': 'GC12P109715', 'score': 0.39}, {'connected_gene': 'FAM222A-AS1', 'score': 0.25}]
chr12 GH12I109626 109626551 109627391 0.54 [{'connected_gene': 'MVK', 'score': 15.19}, {'connected_gene': 'MMAB', 'score': 10.96}, {'connected_gene': 'RNU4-32P', 'score': 10.95}, {'connected_gene': 'FAM222A', 'score': 10.68}, {'connected_gene': 'GC12M109613', 'score': 0.39}, {'connected_gene': 'RN7SKP250', 'score': 0.28}, {'connected_gene': 'GC12M109663', 'score': 0.28}]
chr12 GH12I109670 109670101 109671839 0.49 [{'connected_gene': 'MVK', 'score': 4.86}, {'connected_gene': 'RN7SKP250', 'score': 0.44}, {'connected_gene': 'GC12M109663', 'score': 0.44}, {'connected_gene': 'FAM222A', 'score': 0.26}]
chr12 GH12I109627 109627470 109628202 0.54 [{'connected_gene': 'MMAB', 'score': 10.96}, {'connected_gene': 'MVK', 'score': 10.96}, {'connected_gene': 'RNU4-32P', 'score': 10.95}, {'connected_gene': 'FAM222A', 'score': 10.68}, {'connected_gene': 'KCTD10', 'score': 7.74}, {'connected_gene': 'GC12M109613', 'score': 0.39}, {'connected_gene': 'RN7SKP250', 'score': 0.28}, {'connected_gene': 'GC12M109663', 'score': 0.28}]
chr12 GH12I109711 109711621 109712591 0.83 [{'connected_gene': 'MMAB', 'score': 11.03}, {'connected_gene': 'MVK', 'score': 11.03}, {'connected_gene': 'RNU4-32P', 'score': 11.02}, {'connected_gene': 'FAM222A', 'score': 0.77}, {'connected_gene': 'RN7SKP250', 'score': 0.25}, {'connected_gene': 'GC12M109663', 'score': 0.25}]
chr12 GH12I109721 109721416 109722884 0.91 [{'connected_gene': 'MMAB', 'score': 10.89}, {'connected_gene': 'MVK', 'score': 10.89}, {'connected_gene': 'RNU4-32P', 'score': 10.88}, {'connected_gene': 'TRPV4', 'score': 10.45}, {'connected_gene': 'TCTN1', 'score': 4.0}, {'connected_gene': 'FAM222A', 'score': 0.44}, {'connected_gene': 'GC12P109715', 'score': 0.44}, {'connected_gene': 'FAM222A-AS1', 'score': 0.23}]
chr12 GH12I109717 109717327 109721357 1.01 [{'connected_gene': 'MMAB', 'score': 10.89}, {'connected_gene': 'MVK', 'score': 10.89}, {'connected_gene': 'RNU4-32P', 'score': 10.88}, {'connected_gene': 'TRPV4', 'score': 10.57}, {'connected_gene': 'GLTP', 'score': 5.35}, {'connected_gene': 'HVCN1', 'score': 4.05}, {'connected_gene': 'GC12P109715', 'score': 0.77}, {'connected_gene': 'FAM222A', 'score': 0.44}, {'connected_gene': 'FAM222A-AS1', 'score': 0.23}]
chr12 GH12I109687 109686176 109686325 0.74 [{'connected_gene': 'PPTC7', 'score': 5.06}, {'connected_gene': 'RN7SKP250', 'score': 0.34}, {'connected_gene': 'GC12M109663', 'score': 0.34}, {'connected_gene': 'FAM222A', 'score': 0.31}]
chr12 GH12I109762 109762776 109763871 0.99 [{'connected_gene': 'ALKBH2', 'score': 9.67}, {'connected_gene': 'FAM222A', 'score': 4.93}, {'connected_gene': 'FAM222A-AS1', 'score': 4.59}, {'connected_gene': 'GC12P109715', 'score': 0.25}]
chr12 GH12I109706 109706621 109707917 1.1 [{'connected_gene': 'RNU4-32P', 'score': 11.03}, {'connected_gene': 'MMAB', 'score': 11.03}, {'connected_gene': 'MVK', 'score': 11.03}, {'connected_gene': 'FAM222A', 'score': 0.44}, {'connected_gene': 'RN7SKP250', 'score': 0.26}, {'connected_gene': 'GC12M109663', 'score': 0.26}]
chr12 GH12I109713 109713536 109717246 2.22 [{'connected_gene': 'GC12P109715', 'score': 550.77}, {'connected_gene': 'FAM222A', 'score': 550.77}, {'connected_gene': 'RNU4-32P', 'score': 21.66}, {'connected_gene': 'MMAB', 'score': 10.71}, {'connected_gene': 'MVK', 'score': 10.71}, {'connected_gene': 'TRPV4', 'score': 10.56}, {'connected_gene': 'UBE3B', 'score': 10.11}]
chr12 GH12I109497 109497378 109498726 0.38 [{'connected_gene': 'PIR31921', 'score': 550.77}, {'connected_gene': 'GC12P109501', 'score': 550.77}, {'connected_gene': 'MVK', 'score': 19.05}, {'connected_gene': 'UBE3B', 'score': 18.15}, {'connected_gene': 'KCTD10', 'score': 11.41}, {'connected_gene': 'ENSG00000255655', 'score': 10.97}, {'connected_gene': 'RNU4-32P', 'score': 10.68}, {'connected_gene': 'MMAB', 'score': 10.67}, {'connected_gene': 'FAM222A', 'score': 10.55}, {'connected_gene': 'TRPV4', 'score': 10.32}, {'connected_gene': 'MYO1H', 'score': 7.45}]
chr12 GH12I109612 109612308 109623300 0.81 [{'connected_gene': 'GC12M109613', 'score': 550.77}, {'connected_gene': 'MYO1H', 'score': 19.89}, {'connected_gene': 'MMAB', 'score': 18.89}, {'connected_gene': 'MVK', 'score': 18.85}, {'connected_gene': 'KCTD10', 'score': 14.09}, {'connected_gene': 'RNU4-32P', 'score': 11.21}, {'connected_gene': 'FAM222A', 'score': 11.19}, {'connected_gene': 'FAM222A-AS1', 'score': 10.85}, {'connected_gene': 'UBE3B', 'score': 8.82}, {'connected_gene': 'ACACB', 'score': 4.42}, {'connected_gene': 'RN7SKP250', 'score': 0.25}, {'connected_gene': 'GC12M109663', 'score': 0.25}]

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