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
ENST00000484437 [[44779152, 44779289], [44794836, 44795044], [44795715, 44795860], [44802986, 44803003]] None
ENST00000296121 [[44790237, 44795044], [44795715, 44795860], [44802986, 44803154]] [[44794832, 44795044], [44795715, 44795860], [44802986, 44803094]]
NM_001320334 [[44790235, 44795099], [44795715, 44795860], [44802986, 44803173]] [[44795040, 44795099], [44795715, 44795860], [44802986, 44803094]]
NM_020696 [[44790235, 44795044], [44795715, 44795860], [44802986, 44803173]] [[44794832, 44795044], [44795715, 44795860], [44802986, 44803094]]
Promoter
Chrom Start End Description
chr3 44803088 44803126 CAGE_peak_1_at_KIAA1143_5end
chr3 44803141 44803159 CAGE_peak_2_at_KIAA1143_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I045052 45052688 45066370 1.72 [{'connected_gene': 'ZNF502', 'score': 29.2}, {'connected_gene': 'ZNF852', 'score': 25.25}, {'connected_gene': 'RN7SL145P', 'score': 24.84}, {'connected_gene': 'CLEC3B', 'score': 19.26}, {'connected_gene': 'ZNF35', 'score': 19.16}, {'connected_gene': 'CDCP1', 'score': 16.37}, {'connected_gene': 'ZNF197', 'score': 15.66}, {'connected_gene': 'ZNF660', 'score': 15.3}, {'connected_gene': 'EXOSC7', 'score': 12.21}, {'connected_gene': 'RNU5B-3P', 'score': 11.07}, {'connected_gene': 'TMEM158', 'score': 10.63}, {'connected_gene': 'ENSG00000202268', 'score': 10.23}, {'connected_gene': 'ZDHHC3', 'score': 10.2}, {'connected_gene': 'SACM1L', 'score': 10.19}, {'connected_gene': 'ZNF445', 'score': 9.97}, {'connected_gene': 'LIMD1', 'score': 9.48}, {'connected_gene': 'TMEM42', 'score': 6.46}, {'connected_gene': 'KIAA1143', 'score': 5.3}, {'connected_gene': 'ZNF501', 'score': 4.21}, {'connected_gene': 'LOC105377059', 'score': 0.44}]
chr3 GH03I044648 44648109 44649801 1.94 [{'connected_gene': 'ZNF35', 'score': 561.52}, {'connected_gene': 'ZNF852', 'score': 13.13}, {'connected_gene': 'RPS24P8', 'score': 12.77}, {'connected_gene': 'ZNF501', 'score': 12.23}, {'connected_gene': 'ZNF197', 'score': 10.38}, {'connected_gene': 'ZNF502', 'score': 10.09}, {'connected_gene': 'ZDHHC3', 'score': 10.08}, {'connected_gene': 'KIAA1143', 'score': 5.05}, {'connected_gene': 'ENSG00000272077', 'score': 0.37}, {'connected_gene': 'ENSG00000236869', 'score': 0.28}]
chr3 GH03I044864 44864798 44865940 0.38 [{'connected_gene': 'KIAA1143', 'score': 12.57}, {'connected_gene': 'LIMD1', 'score': 4.23}, {'connected_gene': 'TMEM42', 'score': 0.77}, {'connected_gene': 'GC03P045071', 'score': 0.77}, {'connected_gene': 'PPIAP18', 'score': 0.44}, {'connected_gene': 'KIF15', 'score': 0.15}]
chr3 GH03I044760 44760800 44763306 2.09 [{'connected_gene': 'KIAA1143', 'score': 572.53}, {'connected_gene': 'KIF15', 'score': 550.77}, {'connected_gene': 'ZNF852', 'score': 23.66}, {'connected_gene': 'RN7SL145P', 'score': 10.5}, {'connected_gene': 'HNRNPA1P77', 'score': 0.18}]
chr3 GH03I044611 44611083 44611373 0.24 [{'connected_gene': 'KIAA1143', 'score': 13.67}, {'connected_gene': 'ZNF197', 'score': 3.77}, {'connected_gene': 'ZNF660', 'score': 3.1}, {'connected_gene': 'ZKSCAN7', 'score': 2.34}, {'connected_gene': 'ZNF445', 'score': 1.85}, {'connected_gene': 'ZNF502', 'score': 1.81}, {'connected_gene': 'ZNF501', 'score': 1.64}, {'connected_gene': 'PIR39553', 'score': 0.39}, {'connected_gene': 'ENSG00000236869', 'score': 0.19}]
chr3 GH03I044892 44892731 44893858 0.84 [{'connected_gene': 'ZNF660', 'score': 25.73}, {'connected_gene': 'TGM4', 'score': 8.2}, {'connected_gene': 'KIAA1143', 'score': 5.68}, {'connected_gene': 'ZNF501', 'score': 4.4}, {'connected_gene': 'ENSG00000235845', 'score': 0.44}]
chr3 GH03I044882 44882710 44887950 1.5 [{'connected_gene': 'ZNF660', 'score': 28.46}, {'connected_gene': 'ZKSCAN7', 'score': 10.2}, {'connected_gene': 'KIAA1143', 'score': 8.7}, {'connected_gene': 'TGM4', 'score': 6.76}, {'connected_gene': 'ZNF501', 'score': 4.57}, {'connected_gene': 'ZNF197', 'score': 4.35}, {'connected_gene': 'ENSG00000235845', 'score': 0.39}]
chr3 GH03I044196 44196666 44201021 1.13 [{'connected_gene': 'ZNF660', 'score': 25.21}, {'connected_gene': 'ZNF197', 'score': 7.8}, {'connected_gene': 'KIAA1143', 'score': 7.47}, {'connected_gene': 'ENSG00000271941', 'score': 5.36}, {'connected_gene': 'TOPAZ1', 'score': 0.26}, {'connected_gene': 'PIR53341', 'score': 0.18}]
chr3 GH03I044974 44974043 44977602 2.21 [{'connected_gene': 'EXOSC7', 'score': 566.38}, {'connected_gene': 'ZDHHC3', 'score': 554.91}, {'connected_gene': 'ZNF445', 'score': 16.55}, {'connected_gene': 'RN7SL145P', 'score': 14.75}, {'connected_gene': 'CLEC3B', 'score': 11.34}, {'connected_gene': 'ZNF502', 'score': 11.08}, {'connected_gene': 'ZKSCAN7', 'score': 10.78}, {'connected_gene': 'ZNF852', 'score': 10.5}, {'connected_gene': 'RNU5B-3P', 'score': 9.69}, {'connected_gene': 'KIAA1143', 'score': 9.3}, {'connected_gene': 'ZNF197', 'score': 6.24}]
chr3 GH03I044729 44729001 44730400 2.03 [{'connected_gene': 'ZNF501', 'score': 550.77}, {'connected_gene': 'LOC105377056', 'score': 550.77}, {'connected_gene': 'KIAA1143', 'score': 20.81}, {'connected_gene': 'ZNF852', 'score': 13.09}, {'connected_gene': 'ZNF35', 'score': 10.92}, {'connected_gene': 'ZNF502', 'score': 10.24}, {'connected_gene': 'ZDHHC3', 'score': 10.09}, {'connected_gene': 'PIR43736', 'score': 0.37}]
chr3 GH03I044099 44099357 44101275 0.2 [{'connected_gene': 'RNU6-367P', 'score': 11.38}, {'connected_gene': 'TOPAZ1', 'score': 9.23}, {'connected_gene': 'ZNF502', 'score': 4.97}, {'connected_gene': 'KIAA1143', 'score': 4.09}, {'connected_gene': 'GC03P044115', 'score': 0.39}, {'connected_gene': 'GC03M044082', 'score': 0.37}]
chr3 GH03I044532 44532929 44533078 0.99 [{'connected_gene': 'ZNF197', 'score': 24.83}, {'connected_gene': 'ZNF852', 'score': 12.13}, {'connected_gene': 'ZKSCAN7', 'score': 11.23}, {'connected_gene': 'ENSG00000235845', 'score': 10.51}, {'connected_gene': 'TGM4', 'score': 10.51}, {'connected_gene': 'ZNF445', 'score': 10.46}, {'connected_gene': 'ZNF660', 'score': 10.35}, {'connected_gene': 'ZNF501', 'score': 10.05}, {'connected_gene': 'CLEC3B', 'score': 9.82}, {'connected_gene': 'RNU5B-3P', 'score': 9.81}, {'connected_gene': 'ZNF35', 'score': 9.64}, {'connected_gene': 'KIAA1143', 'score': 6.39}, {'connected_gene': 'LOC100419748', 'score': 0.77}]
chr3 GH03I044624 44624201 44626393 2.02 [{'connected_gene': 'ZNF197', 'score': 584.76}, {'connected_gene': 'ZNF197-AS1', 'score': 550.77}, {'connected_gene': 'ZNF35', 'score': 21.81}, {'connected_gene': 'ZNF852', 'score': 21.56}, {'connected_gene': 'KIAA1143', 'score': 14.13}, {'connected_gene': 'ZNF660', 'score': 11.28}, {'connected_gene': 'ZDHHC3', 'score': 10.08}, {'connected_gene': 'ZNF502', 'score': 10.05}, {'connected_gene': 'ZNF445', 'score': 10.0}, {'connected_gene': 'ENSG00000236869', 'score': 0.21}]
chr3 GH03I045078 45078401 45079975 1.13 [{'connected_gene': 'ENSG00000202268', 'score': 10.43}, {'connected_gene': 'KIAA1143', 'score': 6.77}, {'connected_gene': 'ZNF660', 'score': 6.47}, {'connected_gene': 'EXOSC7', 'score': 5.2}, {'connected_gene': 'ZNF197', 'score': 4.09}, {'connected_gene': 'LOC105377059', 'score': 0.39}, {'connected_gene': 'CDCP1', 'score': 0.2}]
chr3 GH03I044685 44685000 44686200 1.26 [{'connected_gene': 'ENSG00000236869', 'score': 550.77}, {'connected_gene': 'LOC101928592', 'score': 550.77}, {'connected_gene': 'ZNF197', 'score': 24.18}, {'connected_gene': 'ZNF35', 'score': 21.76}, {'connected_gene': 'KIAA1143', 'score': 15.25}, {'connected_gene': 'ZNF852', 'score': 13.11}, {'connected_gene': 'KIF15', 'score': 11.25}, {'connected_gene': 'ZNF501', 'score': 11.14}, {'connected_gene': 'ZNF660', 'score': 10.61}, {'connected_gene': 'ZNF502', 'score': 10.19}, {'connected_gene': 'ZKSCAN7', 'score': 10.17}, {'connected_gene': 'ZDHHC3', 'score': 10.09}, {'connected_gene': 'ZNF445', 'score': 8.93}, {'connected_gene': 'PIR62310', 'score': 0.77}]