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
ENST00000547409 [[52463029, 52463726], [52464137, 52464199]] None
ENST00000336854 [[52463754, 52464026], [52464137, 52464267], [52467358, 52467686], [52470569, 52471278]] [[52467434, 52467686], [52470569, 52470974]]
ENST00000552544 [[52463759, 52464267], [52467358, 52467687]] None
ENST00000550604 [[52463770, 52464112], [52467358, 52467687]] [[52467434, 52467687]]
ENST00000553049 [[52463786, 52463855], [52464137, 52464267], [52467358, 52467686], [52470569, 52470888]] [[52467434, 52467686], [52470569, 52470888]]
ENST00000552947 [[52463795, 52464026], [52464137, 52465218]] None
ENST00000548915 [[52463803, 52463832], [52464137, 52464267], [52467358, 52467686], [52470569, 52470740]] [[52467434, 52467686], [52470569, 52470740]]
NM_001098673 [[52463757, 52463855], [52464137, 52464267], [52467358, 52467686], [52470569, 52471279]] [[52467434, 52467686], [52470569, 52470974]]
NM_021934 [[52463757, 52464026], [52464137, 52464267], [52467358, 52467686], [52470569, 52471279]] [[52467434, 52467686], [52470569, 52470974]]
Promoter
Chrom Start End Description
chr12 52463751 52463814 CAGE_peak_1_at_C12orf44_5end
chr12 52463884 52463905 CAGE_peak_3_at_C12orf44_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I051237 51237906 51242613 2.28 [{'connected_gene': 'DAZAP2', 'score': 550.77}, {'connected_gene': 'HNRNPA3P10', 'score': 35.19}, {'connected_gene': 'ATF1', 'score': 17.87}, {'connected_gene': 'TFCP2', 'score': 14.44}, {'connected_gene': 'LIMA1', 'score': 12.49}, {'connected_gene': 'LETMD1', 'score': 10.65}, {'connected_gene': 'CSRNP2', 'score': 10.61}, {'connected_gene': 'POU6F1', 'score': 10.05}, {'connected_gene': 'ATG101', 'score': 9.84}, {'connected_gene': 'LOC102723983', 'score': 0.31}]
chr12 GH12I052031 52031855 52034757 1.72 [{'connected_gene': 'ATG101', 'score': 12.03}, {'connected_gene': 'RNU6-574P', 'score': 11.47}, {'connected_gene': 'NR4A1', 'score': 9.67}, {'connected_gene': 'GRASP', 'score': 3.81}, {'connected_gene': 'ACVR1B', 'score': 1.93}, {'connected_gene': 'ENSG00000259884', 'score': 0.31}]
chr12 GH12I052068 52068997 52071850 2.3 [{'connected_gene': 'ATG101', 'score': 564.5}, {'connected_gene': 'HNRNPA3P10', 'score': 31.16}, {'connected_gene': 'EIF4B', 'score': 15.56}, {'connected_gene': 'TFCP2', 'score': 10.5}, {'connected_gene': 'OR7E47P', 'score': 9.88}, {'connected_gene': 'KRT6C', 'score': 4.82}]
chr12 GH12I052277 52277299 52286486 1.73 [{'connected_gene': 'KRT86', 'score': 27.96}, {'connected_gene': 'ZNF740', 'score': 15.06}, {'connected_gene': 'KRT80', 'score': 13.3}, {'connected_gene': 'KRT7', 'score': 13.27}, {'connected_gene': 'HNRNPA3P10', 'score': 12.85}, {'connected_gene': 'CSAD', 'score': 11.97}, {'connected_gene': 'KRT87P', 'score': 11.89}, {'connected_gene': 'KRT83', 'score': 11.14}, {'connected_gene': 'ENSG00000257808', 'score': 9.87}, {'connected_gene': 'NR4A1', 'score': 3.36}, {'connected_gene': 'ATG101', 'score': 3.05}, {'connected_gene': 'KRT5', 'score': 1.77}, {'connected_gene': 'KRT6A', 'score': 1.65}, {'connected_gene': 'KRT84', 'score': 1.29}, {'connected_gene': 'ENSG00000257830', 'score': 0.77}, {'connected_gene': 'KRT81', 'score': 0.31}, {'connected_gene': 'ENSG00000257829', 'score': 0.31}, {'connected_gene': 'GC12P052156', 'score': 0.13}]
chr12 GH12I052941 52941755 52953466 2.78 [{'connected_gene': 'KRT18', 'score': 560.82}, {'connected_gene': 'KRT8', 'score': 560.62}, {'connected_gene': 'PCBP2', 'score': 28.01}, {'connected_gene': 'SP1', 'score': 24.27}, {'connected_gene': 'ZNF740', 'score': 23.04}, {'connected_gene': 'AAAS', 'score': 22.44}, {'connected_gene': 'ENSG00000257808', 'score': 19.06}, {'connected_gene': 'EIF4B', 'score': 19.05}, {'connected_gene': 'ATG101', 'score': 13.75}, {'connected_gene': 'ATF7', 'score': 12.74}, {'connected_gene': 'LOC100652999', 'score': 12.05}, {'connected_gene': 'CALCOCO1', 'score': 10.75}, {'connected_gene': 'KRT7-AS', 'score': 10.51}, {'connected_gene': 'KRT71', 'score': 9.18}, {'connected_gene': 'LOC283335', 'score': 4.6}, {'connected_gene': 'GC12M052900', 'score': 0.25}]
chr12 GH12I052491 52491379 52497734 1.85 [{'connected_gene': 'KRT6A', 'score': 563.51}, {'connected_gene': 'KRT6C', 'score': 21.45}, {'connected_gene': 'KRT5', 'score': 19.58}, {'connected_gene': 'KRT71', 'score': 10.39}, {'connected_gene': 'KRT82', 'score': 10.29}, {'connected_gene': 'KRT84', 'score': 10.01}, {'connected_gene': 'KRT87P', 'score': 9.88}, {'connected_gene': 'KRT86', 'score': 9.88}, {'connected_gene': 'KRT2', 'score': 9.71}, {'connected_gene': 'KRT78', 'score': 9.69}, {'connected_gene': 'KRT83', 'score': 9.47}, {'connected_gene': 'PFDN5', 'score': 4.93}, {'connected_gene': 'KRT6B', 'score': 3.27}, {'connected_gene': 'ATG101', 'score': 1.61}, {'connected_gene': 'KRT75', 'score': 1.48}, {'connected_gene': 'KRT7', 'score': 1.33}, {'connected_gene': 'KRT18', 'score': 1.3}, {'connected_gene': 'GC12M052518', 'score': 0.34}]
chr12 GH12I052515 52515331 52526757 1.77 [{'connected_gene': 'KRT5', 'score': 568.84}, {'connected_gene': 'GC12M052518', 'score': 550.77}, {'connected_gene': 'KRT6A', 'score': 17.52}, {'connected_gene': 'KRT6C', 'score': 11.83}, {'connected_gene': 'KRT71', 'score': 11.19}, {'connected_gene': 'KRT74', 'score': 10.6}, {'connected_gene': 'KRT84', 'score': 9.95}, {'connected_gene': 'KRT2', 'score': 9.93}, {'connected_gene': 'KRT4', 'score': 9.72}, {'connected_gene': 'KRT82', 'score': 9.69}, {'connected_gene': 'KRT83', 'score': 9.27}, {'connected_gene': 'KRT78', 'score': 9.22}, {'connected_gene': 'ENSG00000259884', 'score': 5.2}, {'connected_gene': 'KRT6B', 'score': 4.2}, {'connected_gene': 'KRT1', 'score': 4.16}, {'connected_gene': 'KRT76', 'score': 3.68}, {'connected_gene': 'ATG101', 'score': 2.28}, {'connected_gene': 'KRT75', 'score': 1.53}, {'connected_gene': 'GC12P052543', 'score': 0.34}]
chr12 GH12I052022 52022662 52027805 2.57 [{'connected_gene': 'NR4A1', 'score': 555.55}, {'connected_gene': 'HNRNPA3P10', 'score': 25.01}, {'connected_gene': 'EIF4B', 'score': 23.55}, {'connected_gene': 'RNU6-574P', 'score': 12.12}, {'connected_gene': 'ATG101', 'score': 10.08}, {'connected_gene': 'KRT80', 'score': 4.61}, {'connected_gene': 'GRASP', 'score': 3.5}, {'connected_gene': 'ACVRL1', 'score': 2.43}, {'connected_gene': 'ENSG00000259884', 'score': 0.29}]
chr12 GH12I052060 52060937 52065715 1.5 [{'connected_gene': 'OR7E47P', 'score': 11.56}, {'connected_gene': 'KRT6C', 'score': 5.3}, {'connected_gene': 'ENSG00000259884', 'score': 0.77}, {'connected_gene': 'ATG101', 'score': 0.44}]
chr12 GH12I052073 52073228 52076073 1.1 [{'connected_gene': 'OR7E47P', 'score': 7.77}, {'connected_gene': 'KRT6C', 'score': 5.02}, {'connected_gene': 'ATG101', 'score': 0.44}]
chr12 GH12I052066 52066144 52067564 0.49 [{'connected_gene': 'OR7E47P', 'score': 8.2}, {'connected_gene': 'KRT6C', 'score': 7.4}, {'connected_gene': 'ATG101', 'score': 0.77}, {'connected_gene': 'ENSG00000259884', 'score': 0.44}]
chr12 GH12I052180 52180900 52196029 2.18 [{'connected_gene': 'KRT80', 'score': 577.37}, {'connected_gene': 'ZNF740', 'score': 33.88}, {'connected_gene': 'KRT7', 'score': 16.34}, {'connected_gene': 'HNRNPA3P10', 'score': 15.27}, {'connected_gene': 'POU6F1', 'score': 14.08}, {'connected_gene': 'SPRYD3', 'score': 13.93}, {'connected_gene': 'CSAD', 'score': 10.36}, {'connected_gene': 'ENSG00000257808', 'score': 9.82}, {'connected_gene': 'C12orf80', 'score': 6.82}, {'connected_gene': 'NR4A1', 'score': 5.14}, {'connected_gene': 'FIGNL2', 'score': 2.46}, {'connected_gene': 'ACVRL1', 'score': 2.35}, {'connected_gene': 'ATG101', 'score': 1.59}, {'connected_gene': 'GRASP', 'score': 1.33}, {'connected_gene': 'ACVR1B', 'score': 1.32}, {'connected_gene': 'GC12P052184', 'score': 0.44}, {'connected_gene': 'LINC00592', 'score': 0.34}, {'connected_gene': 'GC12P052156', 'score': 0.29}]
chr12 GH12I052630 52630659 52631059 0.66 [{'connected_gene': 'LOC105369772', 'score': 550.77}, {'connected_gene': 'KRT72', 'score': 39.93}, {'connected_gene': 'ENSG00000257605', 'score': 11.92}, {'connected_gene': 'HNRNPA3P10', 'score': 11.16}, {'connected_gene': 'ATG101', 'score': 10.98}, {'connected_gene': 'KRT73', 'score': 8.26}, {'connected_gene': 'GC12P052549', 'score': 0.18}]
chr12 GH12I051863 51863012 51866666 0.91 [{'connected_gene': 'HNRNPA3P10', 'score': 11.24}, {'connected_gene': 'ATG101', 'score': 11.03}, {'connected_gene': 'ANKRD33', 'score': 9.25}, {'connected_gene': 'FIGNL2', 'score': 0.37}, {'connected_gene': 'GC12P051836', 'score': 0.29}, {'connected_gene': 'GC12P051832', 'score': 0.29}, {'connected_gene': 'GC12P051838', 'score': 0.29}, {'connected_gene': 'GC12P051835', 'score': 0.29}, {'connected_gene': 'GC12P051837', 'score': 0.29}]
chr12 GH12I052143 52143138 52158068 1.71 [{'connected_gene': 'HNRNPA3P10', 'score': 24.14}, {'connected_gene': 'EIF4B', 'score': 15.56}, {'connected_gene': 'KRT7-AS', 'score': 10.63}, {'connected_gene': 'KRT5', 'score': 9.83}, {'connected_gene': 'ENSG00000257989', 'score': 7.16}, {'connected_gene': 'KRT7', 'score': 5.58}, {'connected_gene': 'KRT6A', 'score': 5.14}, {'connected_gene': 'OR7E47P', 'score': 4.87}, {'connected_gene': 'IGFBP6', 'score': 4.66}, {'connected_gene': 'KRT6C', 'score': 4.45}, {'connected_gene': 'KRT80', 'score': 2.94}, {'connected_gene': 'ATG101', 'score': 2.52}, {'connected_gene': 'KRT84', 'score': 1.86}, {'connected_gene': 'NR4A1', 'score': 1.79}, {'connected_gene': 'KRT6B', 'score': 1.23}, {'connected_gene': 'GC12P052156', 'score': 0.44}, {'connected_gene': 'GC12M052157', 'score': 0.44}, {'connected_gene': 'LOC105369771', 'score': 0.29}]
chr12 GH12I052894 52894877 52910978 2.31 [{'connected_gene': 'GC12M052900', 'score': 550.77}, {'connected_gene': 'ZNF740', 'score': 82.97}, {'connected_gene': 'AAAS', 'score': 75.5}, {'connected_gene': 'PCBP2', 'score': 53.52}, {'connected_gene': 'SP1', 'score': 50.57}, {'connected_gene': 'MAP3K12', 'score': 47.43}, {'connected_gene': 'ATF7', 'score': 32.92}, {'connected_gene': 'LOC100652999', 'score': 32.28}, {'connected_gene': 'EIF4B', 'score': 27.31}, {'connected_gene': 'ENSG00000257808', 'score': 27.13}, {'connected_gene': 'ATG101', 'score': 22.94}, {'connected_gene': 'TARBP2', 'score': 20.72}, {'connected_gene': 'CALCOCO1', 'score': 19.69}, {'connected_gene': 'CSAD', 'score': 19.28}, {'connected_gene': 'KRT18', 'score': 18.74}, {'connected_gene': 'SPRYD3', 'score': 14.0}, {'connected_gene': 'PFDN5', 'score': 13.37}, {'connected_gene': 'ENSG00000257605', 'score': 11.94}, {'connected_gene': 'C12orf10', 'score': 11.93}, {'connected_gene': 'KRT7-AS', 'score': 10.51}, {'connected_gene': 'NPFF', 'score': 10.3}, {'connected_gene': 'KRT74', 'score': 10.22}, {'connected_gene': 'KRT78', 'score': 10.11}, {'connected_gene': 'KRT79', 'score': 10.1}, {'connected_gene': 'KRT8', 'score': 9.93}, {'connected_gene': 'KRT82', 'score': 9.58}, {'connected_gene': 'KRT84', 'score': 9.42}, {'connected_gene': 'IGFBP6', 'score': 9.4}, {'connected_gene': 'SOAT2', 'score': 9.4}, {'connected_gene': 'KRT83', 'score': 9.17}, {'connected_gene': 'KRT1', 'score': 1.74}, {'connected_gene': 'KRT76', 'score': 1.71}, {'connected_gene': 'GC12M052898', 'score': 0.44}, {'connected_gene': 'GC12M052899', 'score': 0.44}]
chr12 GH12I052058 52058784 52060554 0.87 [{'connected_gene': 'ENSG00000259884', 'score': 550.77}, {'connected_gene': 'HNRNPA3P10', 'score': 12.06}, {'connected_gene': 'OR7E47P', 'score': 5.95}, {'connected_gene': 'KRT6C', 'score': 5.07}, {'connected_gene': 'EIF4B', 'score': 4.77}, {'connected_gene': 'ATG101', 'score': 0.44}, {'connected_gene': 'NR4A1', 'score': 0.28}]

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