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
ENST00000436261 [[44540461, 44542126], [44544033, 44544160], [44544456, 44544548], [44552044, 44552128]] [[44540636, 44542126], [44544033, 44544160], [44544456, 44544471]]
ENST00000489411 [[44541014, 44542129], [44544033, 44544160], [44552044, 44552128]] None
ENST00000463067 [[44541067, 44544602]] None
NM_001287349 [[44540461, 44540791], [44540793, 44542126], [44544033, 44544160], [44544456, 44544548], [44552044, 44552132]] [[44540673, 44540791], [44540793, 44542126], [44544033, 44544160], [44544456, 44544471]]
Promoter
Chrom Start End Description
chr3 44552063 44552064 CAGE_peak_4_at_ZNF852_5end
chr3 44552073 44552084 CAGE_peak_2_at_ZNF852_5end
chr3 44552094 44552131 CAGE_peak_1_at_ZNF852_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I045130 45130418 45141564 1.72 [{'connected_gene': 'ZNF502', 'score': 25.82}, {'connected_gene': 'ZNF852', 'score': 25.25}, {'connected_gene': 'RN7SL145P', 'score': 24.84}, {'connected_gene': 'ZNF35', 'score': 19.15}, {'connected_gene': 'ZNF197', 'score': 12.87}, {'connected_gene': 'RNU5B-3P', 'score': 10.74}, {'connected_gene': 'CLEC3B', 'score': 10.71}, {'connected_gene': 'TMEM158', 'score': 10.51}, {'connected_gene': 'SACM1L', 'score': 10.19}, {'connected_gene': 'ZDHHC3', 'score': 10.13}, {'connected_gene': 'ZNF445', 'score': 9.97}, {'connected_gene': 'ENSG00000202268', 'score': 9.78}, {'connected_gene': 'CDCP1', 'score': 9.36}, {'connected_gene': 'LOC105377059', 'score': 0.2}]
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 GH03I045107 45107997 45108823 0.38 [{'connected_gene': 'ZNF502', 'score': 17.75}, {'connected_gene': 'RN7SL145P', 'score': 16.63}, {'connected_gene': 'ZNF852', 'score': 14.04}, {'connected_gene': 'ZNF197', 'score': 12.87}, {'connected_gene': 'SACM1L', 'score': 10.19}, {'connected_gene': 'ZNF35', 'score': 10.1}, {'connected_gene': 'ZNF445', 'score': 9.97}, {'connected_gene': 'CDCP1', 'score': 0.28}, {'connected_gene': 'LOC105377059', 'score': 0.26}]
chr3 GH03I045103 45103514 45107225 1.45 [{'connected_gene': 'ZNF502', 'score': 17.76}, {'connected_gene': 'RN7SL145P', 'score': 16.63}, {'connected_gene': 'ZNF852', 'score': 14.04}, {'connected_gene': 'ZNF197', 'score': 12.87}, {'connected_gene': 'SACM1L', 'score': 10.19}, {'connected_gene': 'ZNF35', 'score': 10.1}, {'connected_gene': 'ZNF445', 'score': 9.97}, {'connected_gene': 'TMEM158', 'score': 4.98}, {'connected_gene': 'CDCP1', 'score': 1.67}, {'connected_gene': 'LOC105377059', 'score': 0.28}]
chr3 GH03I044712 44712049 44713600 1.83 [{'connected_gene': 'ZNF502', 'score': 578.17}, {'connected_gene': 'SOCS5P3', 'score': 550.77}, {'connected_gene': 'ZNF852', 'score': 13.1}, {'connected_gene': 'ZNF35', 'score': 10.96}, {'connected_gene': 'ZDHHC3', 'score': 10.09}, {'connected_gene': 'LOC105377056', 'score': 0.37}]
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 GH03I044962 44962531 44970626 1.35 [{'connected_gene': 'TGM4', 'score': 16.63}, {'connected_gene': 'RN7SL145P', 'score': 12.33}, {'connected_gene': 'ZNF852', 'score': 11.62}, {'connected_gene': 'CLEC3B', 'score': 11.24}, {'connected_gene': 'ZNF445', 'score': 11.23}, {'connected_gene': 'LIMD1', 'score': 11.19}, {'connected_gene': 'EXOSC7', 'score': 10.83}, {'connected_gene': 'ENSG00000235845', 'score': 10.65}, {'connected_gene': 'ZNF502', 'score': 10.41}, {'connected_gene': 'RNU5B-3P', 'score': 10.06}, {'connected_gene': 'ZDHHC3', 'score': 0.44}, {'connected_gene': 'RPL12P44', 'score': 0.31}]
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 GH03I043689 43689212 43699626 2.28 [{'connected_gene': 'ABHD5', 'score': 555.66}, {'connected_gene': 'ZNF35', 'score': 13.11}, {'connected_gene': 'ZNF852', 'score': 10.17}, {'connected_gene': 'ZNF660', 'score': 4.8}, {'connected_gene': 'ENSG00000261786', 'score': 4.19}, {'connected_gene': 'ANO10', 'score': 0.77}, {'connected_gene': 'PIR40588', 'score': 0.29}, {'connected_gene': 'GC03M043165', 'score': 0.06}]
chr3 GH03I043584 43584149 43584600 1.12 [{'connected_gene': 'NKTR', 'score': 24.97}, {'connected_gene': 'ZNF662', 'score': 21.2}, {'connected_gene': 'ZNF852', 'score': 14.04}, {'connected_gene': 'SNRK-AS1', 'score': 11.24}, {'connected_gene': 'ZNF445', 'score': 9.97}, {'connected_gene': 'RPL18AP9', 'score': 0.15}, {'connected_gene': 'TUBAP3', 'score': 0.15}, {'connected_gene': 'ANO10', 'score': 0.14}, {'connected_gene': 'GC03M043165', 'score': 0.05}]
chr3 GH03I043522 43522560 43523894 0.93 [{'connected_gene': 'NKTR', 'score': 24.98}, {'connected_gene': 'ZNF662', 'score': 21.2}, {'connected_gene': 'SNRK-AS1', 'score': 14.87}, {'connected_gene': 'ZNF852', 'score': 14.04}, {'connected_gene': 'ZNF445', 'score': 9.97}, {'connected_gene': 'RPL18AP9', 'score': 0.28}, {'connected_gene': 'ANO10', 'score': 0.1}, {'connected_gene': 'TUBAP3', 'score': 0.1}, {'connected_gene': 'GC03M043165', 'score': 0.05}]
chr3 GH03I044451 44451158 44452236 0.2 [{'connected_gene': 'ZNF445', 'score': 11.77}, {'connected_gene': 'ZNF852', 'score': 11.35}, {'connected_gene': 'GC03M044441', 'score': 0.44}]
chr3 GH03I044233 44233079 44238725 1.17 [{'connected_gene': 'ZNF660', 'score': 39.63}, {'connected_gene': 'ZNF502', 'score': 20.16}, {'connected_gene': 'ZNF197', 'score': 19.44}, {'connected_gene': 'ZKSCAN7', 'score': 12.54}, {'connected_gene': 'ZNF445', 'score': 11.38}, {'connected_gene': 'ZNF852', 'score': 10.59}, {'connected_gene': 'RNU6-367P', 'score': 9.97}, {'connected_gene': 'ZNF35', 'score': 9.79}, {'connected_gene': 'SNRK-AS1', 'score': 9.72}, {'connected_gene': 'MIR138-1', 'score': 9.49}, {'connected_gene': 'TCAIM', 'score': 7.76}, {'connected_gene': 'ENSG00000271941', 'score': 5.94}, {'connected_gene': 'TOPAZ1', 'score': 0.44}, {'connected_gene': 'PIR53341', 'score': 0.13}]
chr3 GH03I044341 44341787 44343000 0.58 [{'connected_gene': 'ZNF660', 'score': 42.5}, {'connected_gene': 'ZNF852', 'score': 10.52}, {'connected_gene': 'ZNF445', 'score': 10.11}, {'connected_gene': 'ZKSCAN7', 'score': 9.36}, {'connected_gene': 'ZNF197', 'score': 8.43}, {'connected_gene': 'TCAIM', 'score': 0.77}, {'connected_gene': 'LOC105377055', 'score': 0.77}, {'connected_gene': 'LINC01988', 'score': 0.18}]
chr3 GH03I044509 44509381 44512017 1.98 [{'connected_gene': 'ZNF852', 'score': 563.79}, {'connected_gene': 'ZNF660', 'score': 50.7}, {'connected_gene': 'ZNF197', 'score': 18.77}, {'connected_gene': 'ZNF35', 'score': 10.87}, {'connected_gene': 'ZDHHC3', 'score': 10.07}, {'connected_gene': 'ZNF502', 'score': 9.96}, {'connected_gene': 'EI24P3', 'score': 0.37}]
chr3 GH03I045269 45269566 45270695 0.89 [{'connected_gene': 'ZNF852', 'score': 13.04}, {'connected_gene': 'TMEM158', 'score': 11.24}, {'connected_gene': 'ZNF35', 'score': 10.77}, {'connected_gene': 'ZDHHC3', 'score': 10.09}, {'connected_gene': 'RN7SL145P', 'score': 10.05}, {'connected_gene': 'ZNF502', 'score': 9.91}, {'connected_gene': 'CCR3', 'score': 4.04}, {'connected_gene': 'ENSG00000202268', 'score': 0.39}, {'connected_gene': 'GC03M045255', 'score': 0.39}, {'connected_gene': 'LOC105377061', 'score': 0.28}]
chr3 GH03I044104 44104604 44105866 0.74 [{'connected_gene': 'ZNF852', 'score': 11.87}, {'connected_gene': 'RNU6-367P', 'score': 11.24}, {'connected_gene': 'ZNF502', 'score': 10.9}, {'connected_gene': 'SNRK', 'score': 10.31}, {'connected_gene': 'ENSG00000261786', 'score': 7.47}, {'connected_gene': 'GC03P044115', 'score': 0.44}, {'connected_gene': 'GC03M044082', 'score': 0.34}]
chr3 GH03I043767 43767725 43771957 1.75 [{'connected_gene': 'ZNF852', 'score': 19.44}, {'connected_gene': 'SNRK-AS1', 'score': 11.14}, {'connected_gene': 'ZNF445', 'score': 10.07}, {'connected_gene': 'ZNF662', 'score': 10.03}, {'connected_gene': 'ENSG00000235886', 'score': 0.39}, {'connected_gene': 'LOC105377054', 'score': 0.39}, {'connected_gene': 'GC03M043165', 'score': 0.08}]
chr3 GH03I044518 44518249 44518418 0.96 [{'connected_gene': 'ZNF852', 'score': 0.44}, {'connected_gene': 'EI24P3', 'score': 0.44}]
chr3 GH03I044337 44337275 44340862 2.09 [{'connected_gene': 'TCAIM', 'score': 550.77}, {'connected_gene': 'LOC105377055', 'score': 550.77}, {'connected_gene': 'ZNF660', 'score': 44.39}, {'connected_gene': 'ZNF852', 'score': 15.31}, {'connected_gene': 'ZNF35', 'score': 13.14}, {'connected_gene': 'SNRK-AS1', 'score': 12.19}, {'connected_gene': 'ZNF445', 'score': 10.74}, {'connected_gene': 'ZNF197', 'score': 7.35}, {'connected_gene': 'ENSG00000271941', 'score': 5.94}, {'connected_gene': 'ZNF502', 'score': 4.87}, {'connected_gene': 'LINC01988', 'score': 0.17}]
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 GH03I045117 45117655 45128322 1.63 [{'connected_gene': 'RN7SL145P', 'score': 33.45}, {'connected_gene': 'ZNF852', 'score': 31.56}, {'connected_gene': 'LIMD1', 'score': 20.77}, {'connected_gene': 'ZNF502', 'score': 20.45}, {'connected_gene': 'ZNF445', 'score': 18.34}, {'connected_gene': 'TMEM158', 'score': 17.84}, {'connected_gene': 'ZNF197', 'score': 12.87}, {'connected_gene': 'FYCO1', 'score': 12.84}, {'connected_gene': 'CDCP1', 'score': 12.82}, {'connected_gene': 'RNU5B-3P', 'score': 10.33}, {'connected_gene': 'CLEC3B', 'score': 10.32}, {'connected_gene': 'XCR1', 'score': 10.29}, {'connected_gene': 'SACM1L', 'score': 10.19}, {'connected_gene': 'ZNF35', 'score': 10.1}, {'connected_gene': 'ENSG00000202268', 'score': 9.66}, {'connected_gene': 'LOC105377059', 'score': 0.23}]
chr3 GH03I044438 44438419 44441955 1.49 [{'connected_gene': 'LINC00694', 'score': 550.77}, {'connected_gene': 'ZNF660', 'score': 48.66}, {'connected_gene': 'ZNF197', 'score': 25.29}, {'connected_gene': 'ZNF852', 'score': 22.6}, {'connected_gene': 'ZNF502', 'score': 17.77}, {'connected_gene': 'ZNF445', 'score': 10.22}, {'connected_gene': 'ZNF35', 'score': 10.13}, {'connected_gene': 'GC03M044441', 'score': 0.44}]
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 GH03I043685 43685888 43688788 0.93 [{'connected_gene': 'TUBAP3', 'score': 550.77}, {'connected_gene': 'ZNF662', 'score': 21.2}, {'connected_gene': 'ZNF852', 'score': 14.04}, {'connected_gene': 'ZNF197', 'score': 12.87}, {'connected_gene': 'SNRK-AS1', 'score': 11.22}, {'connected_gene': 'ZNF35', 'score': 10.08}, {'connected_gene': 'ZNF445', 'score': 9.97}, {'connected_gene': 'ABHD5', 'score': 4.91}, {'connected_gene': 'ENSG00000261786', 'score': 4.34}, {'connected_gene': 'ANO10', 'score': 0.77}, {'connected_gene': 'RPL18AP9', 'score': 0.08}, {'connected_gene': 'GC03M043165', 'score': 0.06}]
chr3 GH03I043869 43869281 43874312 1.28 [{'connected_gene': 'ENSG00000261786', 'score': 21.02}, {'connected_gene': 'ZNF852', 'score': 11.86}, {'connected_gene': 'ZNF662', 'score': 11.35}, {'connected_gene': 'ZNF502', 'score': 10.89}, {'connected_gene': 'RNU6-367P', 'score': 10.69}, {'connected_gene': 'SNRK', 'score': 10.31}, {'connected_gene': 'MIR138-1', 'score': 10.29}, {'connected_gene': 'TOPAZ1', 'score': 9.7}, {'connected_gene': 'ANO10', 'score': 1.47}, {'connected_gene': 'GC03P043926', 'score': 0.23}, {'connected_gene': 'ENSG00000235886', 'score': 0.16}, {'connected_gene': 'GC03M043165', 'score': 0.15}]
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}]