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
ENST00000425708 [[44481261, 44490231], [44491004, 44491115], [44491938, 44492065], [44492359, 44492454], [44492805, 44492974], [44496612, 44497188], [44518967, 44519162]] [[44488066, 44490231], [44491004, 44491115], [44491938, 44492065], [44492359, 44492454], [44492805, 44492974], [44496612, 44497041]]
ENST00000396077 [[44482405, 44490231], [44491004, 44491115], [44491938, 44492065], [44492359, 44492454], [44492805, 44492974], [44496612, 44497188], [44499735, 44499856], [44519082, 44519162]] [[44488066, 44490231], [44491004, 44491115], [44491938, 44492065], [44492359, 44492454], [44492805, 44492974], [44496612, 44497041]]
ENST00000460529 [[44491614, 44492065], [44492359, 44492454], [44492805, 44492974], [44496612, 44497188], [44499735, 44499756]] None
ENST00000474600 [[44496370, 44497188], [44519082, 44519141]] None
NM_181489 [[44481261, 44490231], [44491004, 44491115], [44491938, 44492065], [44492359, 44492454], [44492805, 44492974], [44496612, 44497188], [44499735, 44499856], [44519082, 44519162]] [[44488066, 44490231], [44491004, 44491115], [44491938, 44492065], [44492359, 44492454], [44492805, 44492974], [44496612, 44497041]]
Promoter
Chrom Start End Description
chr3 44519131 44519186 CAGE_peak_1_at_ZNF445_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 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 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 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 GH03I045109 45109175 45111267 1.12 [{'connected_gene': 'ZNF445', 'score': 4.68}, {'connected_gene': 'CDCP1', 'score': 0.28}, {'connected_gene': 'LOC105377059', 'score': 0.26}]
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 GH03I044359 44359065 44360434 0.92 [{'connected_gene': 'ZNF445', 'score': 9.38}, {'connected_gene': 'ZNF197', 'score': 8.44}, {'connected_gene': 'TMEM42', 'score': 5.37}, {'connected_gene': 'LOC105377055', 'score': 0.34}, {'connected_gene': 'TCAIM', 'score': 0.34}, {'connected_gene': 'LINC01988', 'score': 0.21}]
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 GH03I044613 44613081 44613382 0.24 [{'connected_gene': 'ZNF660', 'score': 3.95}, {'connected_gene': 'ZNF445', 'score': 3.39}, {'connected_gene': 'ZKSCAN7', 'score': 2.85}, {'connected_gene': 'ZNF197', 'score': 2.56}, {'connected_gene': 'ZNF501', 'score': 1.76}, {'connected_gene': 'PIR39553', 'score': 0.44}, {'connected_gene': 'ENSG00000236869', 'score': 0.19}]
chr3 GH03I044355 44355055 44356400 1.02 [{'connected_gene': 'ZNF660', 'score': 45.06}, {'connected_gene': 'ZNF445', 'score': 10.84}, {'connected_gene': 'ZNF197', 'score': 8.93}, {'connected_gene': 'LOC105377055', 'score': 0.37}, {'connected_gene': 'TCAIM', 'score': 0.37}, {'connected_gene': 'LINC01988', 'score': 0.2}]
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 GH03I044468 44468572 44469582 1.03 [{'connected_gene': 'ZNF660', 'score': 45.99}, {'connected_gene': 'ZNF197', 'score': 16.47}, {'connected_gene': 'ZNF445', 'score': 0.44}, {'connected_gene': 'GC03M044441', '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 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 GH03I043734 43734722 43739342 1.12 [{'connected_gene': 'RNU6-367P', 'score': 10.26}, {'connected_gene': 'ZNF445', 'score': 4.72}, {'connected_gene': 'PIR40588', 'score': 0.39}, {'connected_gene': 'LOC105377054', 'score': 0.34}, {'connected_gene': 'GC03M043165', 'score': 0.07}]
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 GH03I044476 44476010 44478273 1.89 [{'connected_gene': 'LOC101928529', 'score': 550.77}, {'connected_gene': 'ZNF445', 'score': 550.77}, {'connected_gene': 'GC03M044441', 'score': 0.29}]
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 GH03I044442 44442092 44443475 0.43 [{'connected_gene': 'ZNF197', 'score': 5.94}, {'connected_gene': 'GC03M044441', 'score': 0.77}, {'connected_gene': 'LINC00694', 'score': 0.77}, {'connected_gene': 'ZNF445', 'score': 0.29}]
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 GH03I044602 44602478 44602731 0.22 [{'connected_gene': 'ZNF197-AS1', 'score': 11.74}, {'connected_gene': 'ZNF445', 'score': 11.57}, {'connected_gene': 'ZKSCAN7', 'score': 10.52}, {'connected_gene': 'ZNF501', 'score': 9.77}, {'connected_gene': 'ZNF660', 'score': 2.28}, {'connected_gene': 'ZNF35', 'score': 2.14}, {'connected_gene': 'ZNF197', 'score': 1.54}, {'connected_gene': 'PIR39553', 'score': 0.37}, {'connected_gene': 'ENSG00000236869', 'score': 0.18}]
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 GH03I044435 44435425 44436593 0.49 [{'connected_gene': 'PIR57313', 'score': 0.77}, {'connected_gene': 'LINC00694', 'score': 0.77}, {'connected_gene': 'ZNF445', 'score': 0.26}]
chr3 GH03I044445 44445115 44446028 0.2 [{'connected_gene': 'GC03M044441', 'score': 550.77}, {'connected_gene': 'LINC00694', 'score': 0.44}, {'connected_gene': 'ZNF445', 'score': 0.29}]
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}]
chr3 GH03I044444 44444001 44444815 0.2 [{'connected_gene': 'GC03M044441', 'score': 550.77}, {'connected_gene': 'ZNF197', 'score': 14.76}, {'connected_gene': 'LINC00694', 'score': 0.77}, {'connected_gene': 'ZNF445', 'score': 0.29}]