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
ENST00000252250 [[52862299, 52863081], [52863194, 52863229], [52863453, 52863674], [52864288, 52864414], [52864915, 52865080], [52865204, 52865300], [52865455, 52865516], [52865849, 52866064], [52866981, 52867569]] [[52862845, 52863081], [52863194, 52863229], [52863453, 52863674], [52864288, 52864414], [52864915, 52865080], [52865204, 52865300], [52865455, 52865516], [52865849, 52866064], [52866981, 52867521]]
ENST00000553087 [[52863805, 52864414], [52864915, 52865217]] None
NM_173086 [[52862299, 52863081], [52863194, 52863229], [52863453, 52863674], [52864288, 52864414], [52864915, 52865080], [52865204, 52865300], [52865455, 52865516], [52865849, 52866064], [52866981, 52867569]] [[52862845, 52863081], [52863194, 52863229], [52863453, 52863674], [52864288, 52864414], [52864915, 52865080], [52865204, 52865300], [52865455, 52865516], [52865849, 52866064], [52866981, 52867521]]
Promoter
Chrom Start End Description
chr12 52867581 52867598 CAGE_peak_1_at_KRT6C_5end
chr12 52867616 52867640 CAGE_peak_2_at_KRT6C_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I052435 52435451 52437586 0.66 [{'connected_gene': 'KRT75', 'score': 550.77}, {'connected_gene': 'KRT6C', 'score': 11.38}, {'connected_gene': 'KRT6A', 'score': 4.63}, {'connected_gene': 'KRT6B', 'score': 0.37}, {'connected_gene': 'GC12M052334', 'score': 0.34}, {'connected_gene': 'GC12M052373', 'score': 0.31}]
chr12 GH12I052422 52422376 52425048 0.2 [{'connected_gene': 'KRT90P', 'score': 550.77}, {'connected_gene': 'KRT6C', 'score': 11.08}, {'connected_gene': 'KRT75', 'score': 0.39}, {'connected_gene': 'ENSG00000257500', 'score': 0.37}, {'connected_gene': 'GC12M052334', 'score': 0.28}, {'connected_gene': 'GC12M052373', 'score': 0.28}]
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 GH12I052390 52390500 52392997 0.68 [{'connected_gene': 'KRT86', 'score': 17.33}, {'connected_gene': 'SP1', 'score': 15.56}, {'connected_gene': 'HNRNPA3P10', 'score': 15.25}, {'connected_gene': 'ZNF740', 'score': 14.46}, {'connected_gene': 'AAAS', 'score': 12.24}, {'connected_gene': 'CSAD', 'score': 10.36}, {'connected_gene': 'KRT6C', 'score': 9.98}, {'connected_gene': 'ENSG00000257808', 'score': 9.82}, {'connected_gene': 'KRT71', 'score': 9.77}, {'connected_gene': 'KRT83', 'score': 8.38}, {'connected_gene': 'KRT72', 'score': 5.98}, {'connected_gene': 'KRT84', 'score': 0.77}, {'connected_gene': 'KRT82', 'score': 0.39}, {'connected_gene': 'ENSG00000258253', 'score': 0.39}, {'connected_gene': 'GC12M052334', 'score': 0.2}, {'connected_gene': 'GC12M052373', 'score': 0.19}]
chr12 GH12I052358 52358637 52358766 0.52 [{'connected_gene': 'KRT84', 'score': 12.2}, {'connected_gene': 'KRT86', 'score': 10.41}, {'connected_gene': 'KRT83', 'score': 10.28}, {'connected_gene': 'KRT6C', 'score': 10.12}, {'connected_gene': 'KRT78', 'score': 9.35}, {'connected_gene': 'KRT4', 'score': 9.16}, {'connected_gene': 'KRT85', 'score': 0.44}, {'connected_gene': 'KRT89P', 'score': 0.37}, {'connected_gene': 'GC12M052334', 'score': 0.15}]
chr12 GH12I052395 52395877 52396026 0.59 [{'connected_gene': 'KRT83', 'score': 10.18}, {'connected_gene': 'KRT71', 'score': 10.17}, {'connected_gene': 'KRT6C', 'score': 10.11}, {'connected_gene': 'KRT86', 'score': 6.96}, {'connected_gene': 'KRT84', 'score': 0.44}, {'connected_gene': 'KRT82', 'score': 0.39}, {'connected_gene': 'ENSG00000258253', 'score': 0.37}, {'connected_gene': 'GC12M052334', 'score': 0.21}, {'connected_gene': 'GC12M052373', 'score': 0.2}]
chr12 GH12I052451 52451903 52453869 0.9 [{'connected_gene': 'KRT6B', 'score': 550.77}, {'connected_gene': 'KRT6A', 'score': 550.26}, {'connected_gene': 'KRT6C', 'score': 11.16}, {'connected_gene': 'PFDN5', 'score': 4.6}, {'connected_gene': 'GC12M052334', 'score': 0.44}, {'connected_gene': 'GC12M052373', 'score': 0.44}]
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 GH12I052513 52513353 52514578 0.77 [{'connected_gene': 'KRT6A', 'score': 10.71}, {'connected_gene': 'KRT71', 'score': 10.38}, {'connected_gene': 'KRT6C', 'score': 10.03}, {'connected_gene': 'KRT5', 'score': 5.54}, {'connected_gene': 'ENSG00000259884', 'score': 5.2}, {'connected_gene': 'GC12M052518', 'score': 0.44}]
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 GH12I052869 52869799 52876851 1.78 [{'connected_gene': 'KRT2', 'score': 20.63}, {'connected_gene': 'PCBP2', 'score': 19.35}, {'connected_gene': 'EIF4B', 'score': 15.65}, {'connected_gene': 'AAAS', 'score': 15.53}, {'connected_gene': 'SP1', 'score': 14.86}, {'connected_gene': 'ZNF740', 'score': 14.44}, {'connected_gene': 'ATF7', 'score': 12.74}, {'connected_gene': 'KRT84', 'score': 12.12}, {'connected_gene': 'LOC100652999', 'score': 12.05}, {'connected_gene': 'PFDN5', 'score': 10.79}, {'connected_gene': 'CALCOCO1', 'score': 10.75}, {'connected_gene': 'KRT79', 'score': 10.51}, {'connected_gene': 'ENSG00000257808', 'score': 9.79}, {'connected_gene': 'KRT4', 'score': 7.83}, {'connected_gene': 'KRT8', 'score': 7.29}, {'connected_gene': 'KRT18', 'score': 6.57}, {'connected_gene': 'KRT78', 'score': 6.4}, {'connected_gene': 'KRT3', 'score': 5.12}, {'connected_gene': 'KRT6C', 'score': 3.8}, {'connected_gene': 'KRT76', 'score': 3.79}, {'connected_gene': 'KRT1', 'score': 3.04}, {'connected_gene': 'RARG', 'score': 2.73}, {'connected_gene': 'KRT6A', 'score': 1.41}, {'connected_gene': 'KRT5', 'score': 1.26}, {'connected_gene': 'RPL7P41', 'score': 0.39}]
chr12 GH12I052034 52034786 52039104 2.17 [{'connected_gene': 'NR4A1', 'score': 550.39}, {'connected_gene': 'OR7E47P', 'score': 6.75}, {'connected_gene': 'KRT6C', 'score': 5.81}, {'connected_gene': 'SLC4A8', 'score': 5.22}, {'connected_gene': 'ENSG00000259884', 'score': 0.34}]
chr12 GH12I052049 52049310 52055768 2.24 [{'connected_gene': 'NR4A1', 'score': 550.31}, {'connected_gene': 'HNRNPA3P10', 'score': 12.06}, {'connected_gene': 'OR7E47P', 'score': 11.32}, {'connected_gene': 'KRT6C', 'score': 5.46}, {'connected_gene': 'EIF4B', 'score': 4.91}, {'connected_gene': 'ENSG00000259884', 'score': 0.44}]
chr12 GH12I052438 52438272 52439455 0.43 [{'connected_gene': 'KRT6C', 'score': 7.24}, {'connected_gene': 'KRT75', 'score': 0.77}, {'connected_gene': 'KRT6B', 'score': 0.39}, {'connected_gene': 'GC12M052334', 'score': 0.34}, {'connected_gene': 'GC12M052373', 'score': 0.34}]
chr12 GH12I052473 52473795 52473854 0.76 [{'connected_gene': 'KRT6C', 'score': 550.77}, {'connected_gene': 'PFDN5', 'score': 4.7}, {'connected_gene': 'KRT6A', 'score': 0.37}]
chr12 GH12I052439 52439922 52443523 1.14 [{'connected_gene': 'KRT6C', 'score': 21.84}, {'connected_gene': 'KRT84', 'score': 9.92}, {'connected_gene': 'KRT2', 'score': 9.16}, {'connected_gene': 'KRT4', 'score': 8.94}, {'connected_gene': 'KRT75', 'score': 0.44}, {'connected_gene': 'KRT6B', 'score': 0.39}, {'connected_gene': 'GC12M052334', 'score': 0.37}, {'connected_gene': 'GC12M052373', 'score': 0.34}]
chr12 GH12I052474 52473957 52474086 0.49 [{'connected_gene': 'KRT6C', 'score': 550.77}, {'connected_gene': 'KRT6A', 'score': 0.37}]
chr12 GH12I052499 52499348 52501040 0.2 [{'connected_gene': 'KRT6C', 'score': 21.18}, {'connected_gene': 'KRT5', 'score': 11.17}, {'connected_gene': 'KRT71', 'score': 10.4}, {'connected_gene': 'KRT82', 'score': 10.28}, {'connected_gene': 'KRT84', 'score': 10.0}, {'connected_gene': 'KRT87P', 'score': 9.88}, {'connected_gene': 'KRT86', 'score': 9.88}, {'connected_gene': 'KRT78', 'score': 9.69}, {'connected_gene': 'KRT83', 'score': 9.48}, {'connected_gene': 'KRT2', 'score': 9.21}, {'connected_gene': 'KRT6A', 'score': 7.13}, {'connected_gene': 'GC12M052518', 'score': 0.37}]
chr12 GH12I052426 52426659 52427888 0.4 [{'connected_gene': 'KRT6C', 'score': 11.14}, {'connected_gene': 'KRT71', 'score': 9.24}, {'connected_gene': 'KRT75', 'score': 0.44}, {'connected_gene': 'KRT90P', 'score': 0.44}, {'connected_gene': 'ENSG00000257500', 'score': 0.37}, {'connected_gene': 'GC12M052334', 'score': 0.29}, {'connected_gene': 'GC12M052373', 'score': 0.28}]
chr12 GH12I052506 52506844 52507581 0.63 [{'connected_gene': 'KRT6C', 'score': 10.61}, {'connected_gene': 'KRT71', 'score': 10.36}, {'connected_gene': 'KRT82', 'score': 10.21}, {'connected_gene': 'KRT84', 'score': 10.15}, {'connected_gene': 'KRT78', 'score': 9.64}, {'connected_gene': 'KRT4', 'score': 9.33}, {'connected_gene': 'ENSG00000259884', 'score': 5.88}, {'connected_gene': 'KRT5', 'score': 5.5}, {'connected_gene': 'GC12M052518', 'score': 0.39}, {'connected_gene': 'KRT6A', 'score': 0.39}]
chr12 GH12I052130 52130770 52131072 0.63 [{'connected_gene': 'KRT6C', 'score': 4.42}, {'connected_gene': 'LOC105369771', 'score': 0.39}, {'connected_gene': 'GC12P052156', 'score': 0.31}]
chr12 GH12I052415 52415885 52417490 0.79 [{'connected_gene': 'ZNF740', 'score': 12.61}, {'connected_gene': 'KRT6C', 'score': 8.23}, {'connected_gene': 'C12orf10', 'score': 5.36}, {'connected_gene': 'ENSG00000257500', 'score': 0.44}, {'connected_gene': 'KRT90P', 'score': 0.44}, {'connected_gene': 'GC12M052334', 'score': 0.26}, {'connected_gene': 'GC12M052373', 'score': 0.25}]
chr12 GH12I052196 52196680 52219185 1.73 [{'connected_gene': 'ZNF740', 'score': 43.5}, {'connected_gene': 'HNRNPA3P10', 'score': 38.13}, {'connected_gene': 'KRT7', 'score': 33.58}, {'connected_gene': 'KRT86', 'score': 11.72}, {'connected_gene': 'KRT87P', 'score': 11.69}, {'connected_gene': 'KRT81', 'score': 11.15}, {'connected_gene': 'POU6F1', 'score': 10.95}, {'connected_gene': 'KRT83', 'score': 10.81}, {'connected_gene': 'LOC283335', 'score': 10.78}, {'connected_gene': 'KRT7-AS', 'score': 10.76}, {'connected_gene': 'CSAD', 'score': 10.36}, {'connected_gene': 'ENSG00000257808', 'score': 9.82}, {'connected_gene': 'KRT84', 'score': 9.69}, {'connected_gene': 'KRT6C', 'score': 8.97}, {'connected_gene': 'KRT80', 'score': 7.52}, {'connected_gene': 'C12orf80', 'score': 7.26}, {'connected_gene': 'LINC00592', 'score': 6.62}, {'connected_gene': 'NR4A1', 'score': 5.7}, {'connected_gene': 'ACVR1B', 'score': 1.86}, {'connected_gene': 'KRT71', 'score': 1.42}, {'connected_gene': 'GRASP', 'score': 1.2}, {'connected_gene': 'GC12P052184', 'score': 0.31}, {'connected_gene': 'GC12P052156', 'score': 0.23}]
chr12 GH12I052078 52078874 52083826 1.32 [{'connected_gene': 'OR7E47P', 'score': 560.71}, {'connected_gene': 'ENSG00000257663', 'score': 550.77}, {'connected_gene': 'NR4A1', 'score': 11.94}, {'connected_gene': 'GRASP', 'score': 11.45}, {'connected_gene': 'ENSG00000257989', 'score': 6.1}, {'connected_gene': 'EIF4B', 'score': 5.38}, {'connected_gene': 'KRT6C', 'score': 5.16}]
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 GH12I052056 52056257 52057659 0.72 [{'connected_gene': 'OR7E47P', 'score': 7.12}, {'connected_gene': 'KRT6C', 'score': 5.38}, {'connected_gene': 'ENSG00000259884', 'score': 0.77}, {'connected_gene': 'NR4A1', 'score': 0.29}]
chr12 GH12I052124 52124799 52128177 1.13 [{'connected_gene': 'KRT80', 'score': 11.08}, {'connected_gene': 'KRT86', 'score': 10.54}, {'connected_gene': 'KRT87P', 'score': 10.53}, {'connected_gene': 'KRT7', 'score': 10.44}, {'connected_gene': 'KRT83', 'score': 10.14}, {'connected_gene': 'KRT84', 'score': 9.09}, {'connected_gene': 'ENSG00000257989', 'score': 8.37}, {'connected_gene': 'OR7E47P', 'score': 7.37}, {'connected_gene': 'KRT6C', 'score': 4.43}, {'connected_gene': 'LOC105369771', 'score': 0.44}, {'connected_gene': 'GC12P052156', 'score': 0.31}]
chr12 GH12I052579 52579604 52583286 1.02 [{'connected_gene': 'KRT72', 'score': 34.39}, {'connected_gene': 'KRT1', 'score': 11.49}, {'connected_gene': 'KRT71', 'score': 10.96}, {'connected_gene': 'KRT78', 'score': 10.38}, {'connected_gene': 'KRT79', 'score': 10.37}, {'connected_gene': 'KRT2', 'score': 10.26}, {'connected_gene': 'KRT84', 'score': 10.2}, {'connected_gene': 'KRT4', 'score': 10.0}, {'connected_gene': 'KRT6C', 'score': 9.87}, {'connected_gene': 'KRT76', 'score': 9.5}, {'connected_gene': 'KRT83', 'score': 9.1}, {'connected_gene': 'KRT73', 'score': 6.82}, {'connected_gene': 'KRT74', 'score': 0.44}, {'connected_gene': 'KRT73-AS1', 'score': 0.34}, {'connected_gene': 'GC12P052549', '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 GH12I052121 52121272 52122566 0.96 [{'connected_gene': 'HNRNPA3P10', 'score': 12.88}, {'connected_gene': 'KRT80', 'score': 11.07}, {'connected_gene': 'KRT86', 'score': 10.54}, {'connected_gene': 'KRT87P', 'score': 10.53}, {'connected_gene': 'KRT7', 'score': 10.43}, {'connected_gene': 'KRT83', 'score': 10.14}, {'connected_gene': 'KRT84', 'score': 9.09}, {'connected_gene': 'KRT6C', 'score': 5.06}, {'connected_gene': 'LOC105369771', 'score': 0.77}, {'connected_gene': 'GC12P052156', 'score': 0.29}]
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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