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
ENST00000546453 [[53215193, 53215861], [53216128, 53216163], [53216799, 53217020], [53217670, 53217796], [53217981, 53218146], [53223806, 53223902], [53224015, 53224246]] None
ENST00000330553 [[53215230, 53215861], [53216128, 53216163], [53216799, 53217020], [53217670, 53217796], [53217981, 53218146], [53223806, 53223902], [53224015, 53224076], [53225189, 53225410], [53227567, 53228079]] [[53215655, 53215861], [53216128, 53216163], [53216799, 53217020], [53217670, 53217796], [53217981, 53218146], [53223806, 53223902], [53224015, 53224076], [53225189, 53225410], [53227567, 53228044]]
ENST00000549255 [[53215527, 53216163], [53216799, 53216924]] [[53215928, 53216163], [53216799, 53216924]]
NM_175834 [[53215230, 53215861], [53216128, 53216163], [53216799, 53217020], [53217670, 53217796], [53217981, 53218146], [53223806, 53223902], [53224015, 53224076], [53225189, 53225410], [53227567, 53228077]] [[53215655, 53215861], [53216128, 53216163], [53216799, 53217020], [53217670, 53217796], [53217981, 53218146], [53223806, 53223902], [53224015, 53224076], [53225189, 53225410], [53227567, 53228044]]
Promoter
Chrom Start End Description
chr12 53224219 53224221 CAGE_peak_3_at_KRT79_5end
chr12 53224364 53224373 CAGE_peak_2_at_KRT79_5end
chr12 53228091 53228096 CAGE_peak_1_at_KRT79_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH12I052920 52920624 52923488 0.89 [{'connected_gene': 'KRT18', 'score': 19.72}, {'connected_gene': 'SP1', 'score': 15.59}, {'connected_gene': 'ZNF740', 'score': 14.5}, {'connected_gene': 'PCBP2', 'score': 14.44}, {'connected_gene': 'LOC100652999', 'score': 13.39}, {'connected_gene': 'ATF7', 'score': 13.08}, {'connected_gene': 'AAAS', 'score': 12.27}, {'connected_gene': 'EIF4B', 'score': 11.11}, {'connected_gene': 'CALCOCO1', 'score': 10.67}, {'connected_gene': 'CSAD', 'score': 10.41}, {'connected_gene': 'NPFF', 'score': 10.3}, {'connected_gene': 'KRT79', 'score': 10.14}, {'connected_gene': 'ENSG00000257808', 'score': 9.86}, {'connected_gene': 'KRT84', 'score': 9.71}, {'connected_gene': 'SOAT2', 'score': 9.63}, {'connected_gene': 'KRT7', 'score': 9.4}, {'connected_gene': 'KRT83', 'score': 9.16}, {'connected_gene': 'GC12M052900', 'score': 0.34}, {'connected_gene': 'KRT8', 'score': 0.31}]
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 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 GH12I052835 52835875 52836636 1.19 [{'connected_gene': 'KRT79', 'score': 550.77}, {'connected_gene': 'ENSG00000257389', 'score': 550.77}, {'connected_gene': 'PFDN5', 'score': 1.59}]
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 GH12I052834 52834301 52834360 0.7 [{'connected_gene': 'KRT79', 'score': 550.77}, {'connected_gene': 'ENSG00000257389', 'score': 0.77}]
chr12 GH12I052962 52962160 52963318 0.31 [{'connected_gene': 'KRT78', 'score': 10.25}, {'connected_gene': 'KRT79', 'score': 10.05}, {'connected_gene': 'KRT84', 'score': 9.71}, {'connected_gene': 'KRT87P', 'score': 5.87}, {'connected_gene': 'KRT8', 'score': 0.39}, {'connected_gene': 'EIF4B', 'score': 0.26}]
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 GH12I052609 52609217 52611129 0.51 [{'connected_gene': 'KRT72', 'score': 25.93}, {'connected_gene': 'KRT2', 'score': 11.11}, {'connected_gene': 'KRT71', 'score': 10.68}, {'connected_gene': 'KRT78', 'score': 10.15}, {'connected_gene': 'KRT76', 'score': 10.13}, {'connected_gene': 'KRT79', 'score': 9.96}, {'connected_gene': 'KRT73', 'score': 6.85}, {'connected_gene': 'GC12P052616', 'score': 0.44}, {'connected_gene': 'KRT73-AS1', 'score': 0.44}, {'connected_gene': 'GC12P052549', 'score': 0.21}]
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 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}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.