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
ENST00000458244 [[53200332, 53201034], [53201142, 53201177], [53201427, 53201648], [53202077, 53202203], [53202469, 53202634], [53203166, 53203262], [53204539, 53204600], [53205546, 53205761], [53207380, 53207634], [53207694, 53207842]] [[53200852, 53201034], [53201142, 53201177], [53201427, 53201648], [53202077, 53202203], [53202469, 53202634], [53203166, 53203262], [53204539, 53204600], [53205546, 53205761], [53207380, 53207634], [53207694, 53207842]]
ENST00000293774 [[53200332, 53201034], [53201142, 53201177], [53201427, 53201648], [53202077, 53202203], [53202469, 53202634], [53203166, 53203262], [53204539, 53204600], [53205546, 53205761], [53207380, 53208335]] [[53200852, 53201034], [53201142, 53201177], [53201427, 53201648], [53202077, 53202203], [53202469, 53202634], [53203166, 53203262], [53204539, 53204600], [53205546, 53205761], [53207380, 53208064]]
ENST00000551956 [[53200332, 53201034], [53201142, 53201177], [53201427, 53201648], [53202077, 53202203], [53202469, 53202634], [53203166, 53203262], [53204539, 53204600], [53205546, 53205761], [53207380, 53208335]] [[53200852, 53201034], [53201142, 53201177], [53201427, 53201648], [53202077, 53202203], [53202469, 53202634], [53203166, 53203262], [53204539, 53204600], [53205546, 53205761], [53207380, 53207842]]
ENST00000548097 [[53200383, 53201034], [53201142, 53201177], [53201427, 53201648], [53202077, 53202203], [53202469, 53202634], [53203166, 53203262], [53204539, 53204600], [53205546, 53205761], [53207631, 53207900]] [[53205735, 53205761], [53207631, 53207842]]
ENST00000549295 [[53202858, 53203262], [53204539, 53204711]] None
ENST00000552668 [[53203166, 53203262], [53204539, 53204600], [53207380, 53207512], [53207631, 53207900]] [[53207462, 53207512], [53207631, 53207842]]
ENST00000551436 [[53205229, 53205761], [53207380, 53207400]] None
NM_002272 [[53200326, 53201034], [53201142, 53201177], [53201427, 53201648], [53202077, 53202203], [53202469, 53202634], [53203166, 53203262], [53204539, 53204600], [53205546, 53205761], [53207380, 53207900]] [[53200852, 53201034], [53201142, 53201177], [53201427, 53201648], [53202077, 53202203], [53202469, 53202634], [53203166, 53203262], [53204539, 53204600], [53205546, 53205761], [53207380, 53207842]]
Promoter
Chrom Start End Description
chr12 53201485 53201493 CAGE_peak_15_at_KRT4_5end
chr12 53201498 53201514 CAGE_peak_5_at_KRT4_5end
chr12 53201516 53201527 CAGE_peak_8_at_KRT4_5end
chr12 53201553 53201562 CAGE_peak_11_at_KRT4_5end
chr12 53201566 53201575 CAGE_peak_13_at_KRT4_5end
chr12 53201596 53201607 CAGE_peak_7_at_KRT4_5end
chr12 53201621 53201631 CAGE_peak_14_at_KRT4_5end
chr12 53201644 53201647 CAGE_peak_18_at_KRT4_5end
chr12 53205597 53205606 CAGE_peak_9_at_KRT4_5end
chr12 53205625 53205638 CAGE_peak_6_at_KRT4_5end
chr12 53205652 53205684 CAGE_peak_2_at_KRT4_5end
chr12 53205697 53205705 CAGE_peak_10_at_KRT4_5end
chr12 53205714 53205729 CAGE_peak_3_at_KRT4_5end
chr12 53207890 53207907 CAGE_peak_1_at_KRT4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH12I052968 52968804 52973493 1.35 [{'connected_gene': 'KRT18', 'score': 19.45}, {'connected_gene': 'KRT79', 'score': 10.09}, {'connected_gene': 'KRT82', 'score': 10.03}, {'connected_gene': 'KRT84', 'score': 9.64}, {'connected_gene': 'KRT71', 'score': 9.27}, {'connected_gene': 'KRT4', 'score': 9.06}, {'connected_gene': 'KRT86', 'score': 8.65}, {'connected_gene': 'KRT8', 'score': 5.58}, {'connected_gene': 'LOC283335', 'score': 5.49}, {'connected_gene': 'SOAT2', 'score': 5.07}, {'connected_gene': 'EIF4B', 'score': 4.5}]
chr12 GH12I052887 52887860 52889647 0.46 [{'connected_gene': 'KRT18', 'score': 11.88}, {'connected_gene': 'KRT78', 'score': 10.58}, {'connected_gene': 'KRT4', 'score': 9.57}, {'connected_gene': 'KRT84', 'score': 9.41}, {'connected_gene': 'IGFBP6', 'score': 9.06}, {'connected_gene': 'SOAT2', 'score': 9.06}, {'connected_gene': 'KRT8', 'score': 7.17}, {'connected_gene': 'PFDN5', 'score': 5.51}, {'connected_gene': 'RPL7P41', 'score': 0.77}, {'connected_gene': 'GC12M052899', 'score': 0.44}, {'connected_gene': 'GC12M052898', 'score': 0.44}]
chr12 GH12I052891 52891105 52891394 0.45 [{'connected_gene': 'KRT18', 'score': 14.23}, {'connected_gene': 'KRT78', 'score': 10.44}, {'connected_gene': 'KRT79', 'score': 10.08}, {'connected_gene': 'KRT4', 'score': 9.65}, {'connected_gene': 'KRT84', 'score': 9.41}, {'connected_gene': 'KRT8', 'score': 8.49}, {'connected_gene': 'KRT83', 'score': 8.38}, {'connected_gene': 'ZNF740', 'score': 2.82}, {'connected_gene': 'SP1', 'score': 1.54}, {'connected_gene': 'GC12M052899', 'score': 0.44}, {'connected_gene': 'GC12M052898', 'score': 0.44}, {'connected_gene': 'RPL7P41', '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 GH12I052957 52957200 52957401 0.8 [{'connected_gene': 'KRT4', 'score': 10.22}, {'connected_gene': 'KRT8', 'score': 0.44}, {'connected_gene': 'EIF4B', 'score': 0.25}]
chr12 GH12I052815 52814106 52814165 0.5 [{'connected_gene': 'KRT4', 'score': 550.77}, {'connected_gene': 'KRT3', 'score': 0.44}]
chr12 GH12I052814 52814541 52814600 0.87 [{'connected_gene': 'KRT4', 'score': 550.77}, {'connected_gene': 'KRT79', 'score': 0.37}]
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 GH12I052867 52867022 52868458 1.09 [{'connected_gene': 'KRT2', 'score': 43.31}, {'connected_gene': 'KRT74', 'score': 11.13}, {'connected_gene': 'KRT79', 'score': 10.87}, {'connected_gene': 'KRT4', 'score': 10.59}, {'connected_gene': 'KRT84', 'score': 10.37}, {'connected_gene': 'KRT8', 'score': 7.39}, {'connected_gene': 'KRT1', 'score': 2.0}, {'connected_gene': 'KRT77', 'score': 1.3}, {'connected_gene': 'RPL7P41', 'score': 0.37}, {'connected_gene': 'KRT78', 'score': 0.37}]
chr12 GH12I052566 52566380 52568150 0.52 [{'connected_gene': 'KRT1', 'score': 10.89}, {'connected_gene': 'KRT5', 'score': 10.09}, {'connected_gene': 'KRT79', 'score': 9.83}, {'connected_gene': 'KRT78', 'score': 9.73}, {'connected_gene': 'KRT4', 'score': 9.49}, {'connected_gene': 'KRT72', 'score': 8.4}, {'connected_gene': 'KRT73', 'score': 4.76}, {'connected_gene': 'KRT74', 'score': 0.44}, {'connected_gene': 'KRT71', 'score': 0.39}, {'connected_gene': 'GC12P052549', 'score': 0.37}]
chr12 GH12I052644 52644399 52647459 1.14 [{'connected_gene': 'KRT1', 'score': 11.3}, {'connected_gene': 'KRT77', 'score': 11.16}, {'connected_gene': 'KRT79', 'score': 10.31}, {'connected_gene': 'KRT76', 'score': 10.26}, {'connected_gene': 'KRT4', 'score': 10.26}, {'connected_gene': 'KRT84', 'score': 9.18}, {'connected_gene': 'ENSG00000257700', 'score': 7.47}, {'connected_gene': 'KRT2', 'score': 0.44}, {'connected_gene': 'KRT128P', 'score': 0.39}, {'connected_gene': 'GC12P052549', 'score': 0.15}]
chr12 GH12I052967 52967227 52968326 0.31 [{'connected_gene': 'KRT79', 'score': 9.68}, {'connected_gene': 'KRT84', 'score': 9.64}, {'connected_gene': 'KRT71', 'score': 9.11}, {'connected_gene': 'KRT4', 'score': 8.74}, {'connected_gene': 'KRT86', 'score': 8.6}, {'connected_gene': 'KRT8', 'score': 0.37}, {'connected_gene': 'EIF4B', 'score': 0.28}]
chr12 GH12I052859 52859506 52861333 1.33 [{'connected_gene': 'KRT79', 'score': 11.14}, {'connected_gene': 'KRT4', 'score': 10.85}, {'connected_gene': 'KRT76', 'score': 10.38}, {'connected_gene': 'KRT1', 'score': 10.36}, {'connected_gene': 'KRT2', 'score': 9.84}, {'connected_gene': 'KRT83', 'score': 9.51}, {'connected_gene': 'KRT71', 'score': 9.36}, {'connected_gene': 'KRT6A', 'score': 2.04}, {'connected_gene': 'RARG', 'score': 1.81}, {'connected_gene': 'KRT5', 'score': 1.47}, {'connected_gene': 'KRT78', 'score': 0.39}, {'connected_gene': 'RPL7P41', 'score': 0.31}]
chr12 GH12I052865 52865357 52865566 0.98 [{'connected_gene': 'KRT79', 'score': 10.87}, {'connected_gene': 'KRT4', 'score': 10.07}, {'connected_gene': 'RPL7P41', 'score': 0.37}, {'connected_gene': 'KRT78', 'score': 0.37}]
chr12 GH12I052866 52866496 52866807 0.31 [{'connected_gene': 'KRT79', 'score': 10.87}, {'connected_gene': 'KRT4', 'score': 10.07}, {'connected_gene': 'RPL7P41', 'score': 0.37}, {'connected_gene': 'KRT78', 'score': 0.37}]
chr12 GH12I052832 52832281 52833084 0.31 [{'connected_gene': 'KRT79', 'score': 550.77}, {'connected_gene': 'KRT4', 'score': 0.37}]
chr12 GH12I052827 52827412 52829767 0.49 [{'connected_gene': 'KRT79', 'score': 0.44}, {'connected_gene': 'KRT4', 'score': 0.39}]
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 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 GH12I052964 52964308 52965980 1.18 [{'connected_gene': 'KRT78', 'score': 10.24}, {'connected_gene': 'KRT79', 'score': 10.04}, {'connected_gene': 'KRT84', 'score': 9.71}, {'connected_gene': 'KRT71', 'score': 9.11}, {'connected_gene': 'KRT86', 'score': 9.11}, {'connected_gene': 'KRT4', 'score': 8.74}, {'connected_gene': 'KRT87P', 'score': 5.88}, {'connected_gene': 'PCBP2', 'score': 2.22}, {'connected_gene': 'AMHR2', 'score': 1.79}, {'connected_gene': 'KRT18', 'score': 1.59}, {'connected_gene': 'KRT8', 'score': 1.57}, {'connected_gene': 'EIF4B', 'score': 0.26}]
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 GH12I052538 52538841 52539845 0.79 [{'connected_gene': 'KRT74', 'score': 11.18}, {'connected_gene': 'KRT84', 'score': 9.68}, {'connected_gene': 'KRT4', 'score': 9.62}, {'connected_gene': 'GC12P052543', 'score': 0.77}, {'connected_gene': 'KRT5', 'score': 0.37}]
chr12 GH12I052886 52886514 52887402 0.31 [{'connected_gene': 'RPL7P41', 'score': 550.77}, {'connected_gene': 'KRT18', 'score': 11.88}, {'connected_gene': 'KRT78', 'score': 10.58}, {'connected_gene': 'KRT4', 'score': 9.57}, {'connected_gene': 'KRT84', 'score': 9.41}, {'connected_gene': 'SOAT2', 'score': 9.06}, {'connected_gene': 'IGFBP6', 'score': 9.06}, {'connected_gene': 'GC12M052899', 'score': 0.39}, {'connected_gene': 'GC12M052898', 'score': 0.39}]

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