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
ENST00000552551 [[53290976, 53291402], [53292244, 53292303], [53292462, 53292683], [53293558, 53293849], [53294371, 53294467], [53294942, 53295003], [53295647, 53295856], [53298441, 53298811], [53343239, 53343626]] [[53291211, 53291402], [53292244, 53292303], [53292462, 53292683], [53293558, 53293849], [53294371, 53294467], [53294942, 53295003], [53295647, 53295856], [53298441, 53298765]]
ENST00000293308 [[53290977, 53291402], [53292244, 53292303], [53292462, 53292683], [53293558, 53293849], [53294371, 53294467], [53294942, 53295003], [53295647, 53295856], [53298441, 53298856]] [[53291211, 53291402], [53292244, 53292303], [53292462, 53292683], [53293558, 53293849], [53294371, 53294467], [53294942, 53295003], [53295647, 53295856], [53298441, 53298765]]
ENST00000546583 [[53290991, 53291402], [53292244, 53292303], [53292462, 53292683], [53293558, 53293849], [53294371, 53295856], [53298441, 53298836]] None
ENST00000550170 [[53290999, 53291402], [53292244, 53292303], [53292462, 53292683], [53293558, 53293849], [53294371, 53295003], [53295647, 53295856], [53298441, 53298828]] None
ENST00000546897 [[53291064, 53291402], [53292244, 53292303], [53292462, 53292683], [53293558, 53293849], [53294371, 53294467], [53294942, 53295003], [53295647, 53295856], [53298441, 53298811], [53343498, 53343608]] [[53291211, 53291402], [53292244, 53292303], [53292462, 53292683], [53293558, 53293849], [53294371, 53294467], [53294942, 53295003], [53295647, 53295856], [53298441, 53298765]]
ENST00000552150 [[53291080, 53291402], [53292244, 53292303], [53292462, 53292683], [53293558, 53293849], [53294371, 53294467], [53294942, 53295003], [53295647, 53295856], [53298441, 53298811], [53320195, 53320253]] [[53291211, 53291402], [53292244, 53292303], [53292462, 53292683], [53293558, 53293849], [53294371, 53294467], [53294942, 53295003], [53295647, 53295856], [53298441, 53298811], [53320195, 53320233]]
ENST00000547031 [[53292252, 53292683], [53293558, 53293849], [53294371, 53294467], [53294942, 53295007]] None
ENST00000549176 [[53293577, 53293849], [53294371, 53294467], [53294942, 53295003], [53295647, 53295988]] None
ENST00000546826 [[53293718, 53293849], [53294371, 53294467], [53294942, 53295003], [53295647, 53295856], [53298441, 53298811], [53343239, 53343369], [53343498, 53343666]] [[53293718, 53293849], [53294371, 53294467], [53294942, 53295003], [53295647, 53295856], [53298441, 53298765]]
ENST00000547176 [[53293779, 53293849], [53294371, 53294467], [53295647, 53295731]] [[53293779, 53293849], [53294371, 53294467], [53295647, 53295731]]
ENST00000548998 [[53293791, 53293849], [53294371, 53294467], [53294942, 53295003], [53295647, 53295856], [53298441, 53298811], [53343239, 53343301], [53343498, 53343560]] [[53293791, 53293849], [53294371, 53294467], [53294942, 53295003], [53295647, 53295856], [53298441, 53298811], [53343239, 53343301], [53343498, 53343510]]
ENST00000546900 [[53294371, 53294467], [53294942, 53295003], [53295647, 53295856], [53297275, 53297432]] [[53294371, 53294467], [53294942, 53295003], [53295647, 53295829]]
ENST00000547413 [[53295647, 53295856], [53298441, 53298863], [53300304, 53300402]] [[53295647, 53295856], [53298441, 53298765]]
ENST00000546542 [[53298459, 53298811], [53300431, 53300844]] [[53298459, 53298811], [53300431, 53300619]]
ENST00000549198 [[53342267, 53342612], [53343239, 53343369], [53343498, 53343615]] None
ENST00000552877 [[53342433, 53342612], [53343239, 53343301], [53343498, 53343658]] None
ENST00000551318 [[53342434, 53342612], [53343239, 53343362], [53343498, 53343704]] None
ENST00000546921 [[53342999, 53343301], [53343498, 53343738]] None
NM_002273 [[53290970, 53291402], [53292244, 53292303], [53292462, 53292683], [53293558, 53293849], [53294371, 53294467], [53294942, 53295003], [53295647, 53295856], [53298441, 53298868]] [[53291211, 53291402], [53292244, 53292303], [53292462, 53292683], [53293558, 53293849], [53294371, 53294467], [53294942, 53295003], [53295647, 53295856], [53298441, 53298765]]
NM_001256282 [[53290970, 53291402], [53292244, 53292303], [53292462, 53292683], [53293558, 53293849], [53294371, 53294467], [53294942, 53295003], [53295647, 53295856], [53298441, 53298811], [53320195, 53320253]] [[53291211, 53291402], [53292244, 53292303], [53292462, 53292683], [53293558, 53293849], [53294371, 53294467], [53294942, 53295003], [53295647, 53295856], [53298441, 53298811], [53320195, 53320233]]
NR_045962 [[53290970, 53291402], [53292244, 53292303], [53292462, 53292683], [53293558, 53293849], [53294371, 53294467], [53294942, 53295003], [53295647, 53295856], [53298441, 53298811], [53343239, 53343650]] None
NM_001256293 [[53290970, 53291402], [53292244, 53292303], [53292462, 53292683], [53293558, 53293849], [53294371, 53294467], [53294942, 53295003], [53295647, 53295856], [53298441, 53298811], [53343498, 53343650]] [[53291211, 53291402], [53292244, 53292303], [53292462, 53292683], [53293558, 53293849], [53294371, 53294467], [53294942, 53295003], [53295647, 53295856], [53298441, 53298765]]
Promoter
Chrom Start End Description
chr12 53297486 53297500 CAGE_peak_15_at_KRT8_5end
chr12 53298570 53298600 CAGE_peak_5_at_KRT8_5end
chr12 53298672 53298713 CAGE_peak_7_at_KRT8_5end
chr12 53298841 53298867 CAGE_peak_1_at_KRT8_5end
chr12 53301072 53301086 CAGE_peak_12_at_KRT8_5end
chr12 53301119 53301125 CAGE_peak_14_at_KRT8_5end
chr12 53320245 53320259 CAGE_peak_4_at_KRT8_5end
chr12 53343573 53343584 CAGE_peak_6_at_KRT8_5end
chr12 53343602 53343631 CAGE_peak_3_at_KRT8_5end
chr12 53343633 53343696 CAGE_peak_2_at_KRT8_5end
chr12 53343709 53343716 CAGE_peak_9_at_KRT8_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
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 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 GH12I052988 52988905 52989351 0.72 [{'connected_gene': 'KRT18', 'score': 11.19}, {'connected_gene': 'EIF4B', 'score': 0.37}, {'connected_gene': 'KRT8', 'score': 0.28}]
chr12 GH12I052911 52911529 52916364 0.86 [{'connected_gene': 'KRT18', 'score': 18.96}, {'connected_gene': 'KRT78', 'score': 9.95}, {'connected_gene': 'KRT84', 'score': 9.1}, {'connected_gene': 'KRT8', 'score': 8.72}, {'connected_gene': 'IGFBP6', 'score': 8.39}, {'connected_gene': 'SOAT2', 'score': 8.39}, {'connected_gene': 'GC12M052900', 'score': 0.39}]
chr12 GH12I052918 52918470 52918621 0.66 [{'connected_gene': 'KRT18', 'score': 11.81}, {'connected_gene': 'KRT78', 'score': 9.95}, {'connected_gene': 'KRT8', 'score': 9.16}, {'connected_gene': 'KRT84', 'score': 9.11}, {'connected_gene': 'IGFBP6', 'score': 8.4}, {'connected_gene': 'SOAT2', 'score': 8.39}, {'connected_gene': 'GC12M052900', 'score': 0.37}]
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 GH12I052978 52978642 52979842 0.2 [{'connected_gene': 'KRT18', 'score': 12.25}, {'connected_gene': 'KRT71', 'score': 9.91}, {'connected_gene': 'KRT84', 'score': 9.61}, {'connected_gene': 'IGFBP6', 'score': 9.34}, {'connected_gene': 'SOAT2', 'score': 9.33}, {'connected_gene': 'EIF4B', 'score': 7.94}, {'connected_gene': 'TNS2', 'score': 5.11}, {'connected_gene': 'KRT8', 'score': 0.31}]
chr12 GH12I052878 52878501 52880400 1.39 [{'connected_gene': 'KRT8', 'score': 6.79}, {'connected_gene': 'PFDN5', 'score': 5.24}, {'connected_gene': 'RPL7P41', 'score': 0.44}, {'connected_gene': 'KRT78', 'score': 0.29}]
chr12 GH12I052923 52923767 52929926 1.94 [{'connected_gene': 'KRT8', 'score': 559.02}, {'connected_gene': 'KRT18', 'score': 20.24}, {'connected_gene': 'PFDN5', 'score': 13.76}, {'connected_gene': 'CSAD', 'score': 11.43}, {'connected_gene': 'ZNF740', 'score': 9.97}, {'connected_gene': 'KRT84', 'score': 9.71}, {'connected_gene': 'GC12M052900', 'score': 0.34}]
chr12 GH12I052953 52953617 52953766 0.66 [{'connected_gene': 'KRT8', 'score': 0.77}, {'connected_gene': 'EIF4B', 'score': 0.23}]
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 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 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 GH12I052974 52974386 52977851 1.34 [{'connected_gene': 'EIF4B', 'score': 14.02}, {'connected_gene': 'KRT18', 'score': 12.27}, {'connected_gene': 'KRT82', 'score': 10.03}, {'connected_gene': 'KRT71', 'score': 9.92}, {'connected_gene': 'KRT84', 'score': 9.61}, {'connected_gene': 'SOAT2', 'score': 9.34}, {'connected_gene': 'IGFBP6', 'score': 9.33}, {'connected_gene': 'KRT8', 'score': 4.75}, {'connected_gene': 'TNS2', 'score': 4.55}]
chr12 GH12I052991 52991403 52994032 1.29 [{'connected_gene': 'EIF4B', 'score': 14.24}, {'connected_gene': 'KRT18', 'score': 11.19}, {'connected_gene': 'TNS2', 'score': 8.78}, {'connected_gene': 'SPRYD3', 'score': 6.63}, {'connected_gene': 'KRT8', 'score': 0.26}]
chr12 GH12I052999 52999073 53000585 0.86 [{'connected_gene': 'EIF4B', 'score': 27.32}, {'connected_gene': 'KRT8', 'score': 0.25}]
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 GH12I052883 52883858 52885724 1.36 [{'connected_gene': 'RPL7P41', 'score': 550.77}, {'connected_gene': 'MAP3K12', 'score': 14.88}, {'connected_gene': 'TARBP2', 'score': 13.59}, {'connected_gene': 'ZNF740', 'score': 13.46}, {'connected_gene': 'AAAS', 'score': 12.84}, {'connected_gene': 'SP1', 'score': 11.81}, {'connected_gene': 'CSAD', 'score': 11.57}, {'connected_gene': 'ENSG00000257808', 'score': 11.52}, {'connected_gene': 'ATF7', 'score': 11.49}, {'connected_gene': 'PCBP2', 'score': 11.25}, {'connected_gene': 'NPFF', 'score': 10.06}, {'connected_gene': 'LOC100652999', 'score': 9.93}, {'connected_gene': 'KRT18', 'score': 6.06}, {'connected_gene': 'KRT8', 'score': 5.27}, {'connected_gene': 'KRT78', 'score': 0.28}]
chr12 GH12I052980 52980193 52981401 1.44 [{'connected_gene': 'ENSG00000270175', 'score': 12.38}, {'connected_gene': 'KRT18', 'score': 12.25}, {'connected_gene': 'MAP3K12', 'score': 11.14}, {'connected_gene': 'KRT71', 'score': 9.91}, {'connected_gene': 'KRT84', 'score': 9.61}, {'connected_gene': 'IGFBP6', 'score': 9.34}, {'connected_gene': 'SOAT2', 'score': 9.33}, {'connected_gene': 'EIF4B', 'score': 0.31}, {'connected_gene': 'KRT8', '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}]

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