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
ENST00000295589 [[26483021, 26483792], [26484777, 26484905], [26487258, 26487520], [26490854, 26491106], [26491777, 26492084]] [[26483259, 26483792], [26484777, 26484905], [26487258, 26487520], [26490854, 26491106], [26491777, 26491889]]
NM_000730 [[26483017, 26483792], [26484777, 26484905], [26487258, 26487520], [26490854, 26491106], [26491777, 26492042]] [[26483259, 26483792], [26484777, 26484905], [26487258, 26487520], [26490854, 26491106], [26491777, 26491889]]
Promoter
Chrom Start End Description
chr4 26491909 26491918 CAGE_peak_2_at_CCKAR_5end
chr4 26492048 26492059 CAGE_peak_3_at_CCKAR_5end
chr4 26492076 26492113 CAGE_peak_1_at_CCKAR_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I026781 26781904 26783234 0.93 [{'connected_gene': 'CCKAR', 'score': 9.81}, {'connected_gene': 'GC04P026778', 'score': 0.77}, {'connected_gene': 'STIM2', 'score': 0.18}]
chr4 GH04I026819 26819059 26819228 0.31 [{'connected_gene': 'CCKAR', 'score': 9.91}, {'connected_gene': 'STIM2', 'score': 0.28}, {'connected_gene': 'GC04P026778', 'score': 0.26}]
chr4 GH04I026687 26687184 26688779 0.31 [{'connected_gene': 'CCKAR', 'score': 9.74}, {'connected_gene': 'TBC1D19', 'score': 6.55}, {'connected_gene': 'PIR55333', 'score': 0.44}, {'connected_gene': 'GC04P026702', 'score': 0.39}]
chr4 GH04I026529 26529004 26530805 0.31 [{'connected_gene': 'CCKAR', 'score': 12.03}, {'connected_gene': 'TBC1D19', 'score': 11.51}, {'connected_gene': 'GC04M026372', 'score': 0.44}]
chr4 GH04I026580 26580209 26581288 0.31 [{'connected_gene': 'CCKAR', 'score': 10.21}, {'connected_gene': 'TBC1D19', 'score': 0.77}, {'connected_gene': 'PIR55333', 'score': 0.15}]
chr4 GH04I026594 26594182 26595062 0.65 [{'connected_gene': 'CCKAR', 'score': 9.75}, {'connected_gene': 'TBC1D19', 'score': 0.37}, {'connected_gene': 'PIR55333', 'score': 0.17}]
chr4 GH04I026374 26374477 26376582 0.2 [{'connected_gene': 'CCKAR', 'score': 6.35}, {'connected_gene': 'GC04P026432', 'score': 0.22}, {'connected_gene': 'LOC105374542', 'score': 0.18}, {'connected_gene': 'GC04M026372', 'score': 0.11}, {'connected_gene': 'RBPJ', 'score': 0.08}]
chr4 GH04I026369 26369177 26370058 0.49 [{'connected_gene': 'CCKAR', 'score': 6.22}, {'connected_gene': 'GC04P026432', 'score': 0.21}, {'connected_gene': 'LOC105374542', 'score': 0.19}, {'connected_gene': 'RBPJ', 'score': 0.08}]
chr4 GH04I026361 26361387 26362821 0.38 [{'connected_gene': 'CCKAR', 'score': 6.21}, {'connected_gene': 'LOC105374542', 'score': 0.21}, {'connected_gene': 'GC04P026432', 'score': 0.19}, {'connected_gene': 'RBPJ', 'score': 0.08}]
chr4 GH04I026348 26348603 26349912 0.31 [{'connected_gene': 'CCKAR', 'score': 4.61}, {'connected_gene': 'LOC105374542', 'score': 0.23}, {'connected_gene': 'GC04P026432', 'score': 0.18}, {'connected_gene': 'RBPJ', 'score': 0.09}]
chr4 GH04I026345 26345601 26346612 0.97 [{'connected_gene': 'CCKAR', 'score': 6.16}, {'connected_gene': 'LOC105374542', 'score': 0.25}, {'connected_gene': 'GC04P026432', 'score': 0.17}, {'connected_gene': 'RBPJ', 'score': 0.09}]
chr4 GH04I026359 26359400 26359801 1.07 [{'connected_gene': 'CCKAR', 'score': 6.0}, {'connected_gene': 'LOC105374542', 'score': 0.21}, {'connected_gene': 'GC04P026432', 'score': 0.19}, {'connected_gene': 'RBPJ', 'score': 0.08}]
chr4 GH04I026341 26341201 26343743 1.29 [{'connected_gene': 'CCKAR', 'score': 4.99}, {'connected_gene': 'LOC105374542', 'score': 0.26}, {'connected_gene': 'GC04P026432', 'score': 0.16}, {'connected_gene': 'RBPJ', 'score': 0.1}]
chr4 GH04I026355 26355802 26356527 0.51 [{'connected_gene': 'CCKAR', 'score': 15.6}, {'connected_gene': 'LOC105374542', 'score': 0.22}, {'connected_gene': 'GC04P026432', 'score': 0.18}, {'connected_gene': 'RBPJ', 'score': 0.08}]
chr4 GH04I026458 26458983 26460506 0.87 [{'connected_gene': 'CCKAR', 'score': 25.82}, {'connected_gene': 'GC04P026432', 'score': 0.31}, {'connected_gene': 'GC04M026372', 'score': 0.2}]
chr4 GH04I026457 26457602 26458759 0.58 [{'connected_gene': 'CCKAR', 'score': 10.66}, {'connected_gene': 'GC04P026432', 'score': 0.31}, {'connected_gene': 'GC04M026372', 'score': 0.2}]
chr4 GH04I026461 26461969 26463665 0.43 [{'connected_gene': 'CCKAR', 'score': 12.09}, {'connected_gene': 'GC04P026432', 'score': 0.31}, {'connected_gene': 'GC04M026372', 'score': 0.21}]
chr4 GH04I026490 26490421 26490480 0.5 [{'connected_gene': 'CCKAR', 'score': 550.77}, {'connected_gene': 'GC04M026372', 'score': 0.29}, {'connected_gene': 'GC04P026432', 'score': 0.22}]
chr4 GH04I026500 26500619 26500848 0.7 [{'connected_gene': 'CCKAR', 'score': 5.53}, {'connected_gene': 'GC04M026372', 'score': 0.34}]
chr4 GH04I026501 26500859 26501008 0.64 [{'connected_gene': 'CCKAR', 'score': 0.39}, {'connected_gene': 'GC04M026372', 'score': 0.34}]
chr4 GH04I026014 26014270 26016830 0.85 [{'connected_gene': 'STIM2', 'score': 4.22}, {'connected_gene': 'CCKAR', 'score': 1.72}, {'connected_gene': 'LINC02357', 'score': 0.22}, {'connected_gene': 'PIR49686', 'score': 0.16}]
chr4 GH04I026477 26477576 26477641 0.22 [{'connected_gene': 'TBC1D19', 'score': 10.3}, {'connected_gene': 'CCKAR', 'score': 0.39}, {'connected_gene': 'GC04P026432', 'score': 0.26}, {'connected_gene': 'GC04M026372', 'score': 0.25}]
chr4 GH04I026605 26605872 26609057 0.31 [{'connected_gene': 'TBC1D19', 'score': 17.25}, {'connected_gene': 'CCKAR', 'score': 10.08}, {'connected_gene': 'PIR55333', 'score': 0.19}]
chr4 GH04I026503 26503666 26504542 0.31 [{'connected_gene': 'TBC1D19', 'score': 10.75}, {'connected_gene': 'CCKAR', 'score': 0.39}, {'connected_gene': 'GC04M026372', 'score': 0.34}]
chr4 GH04I026647 26647624 26648582 0.52 [{'connected_gene': 'TBC1D19', 'score': 14.57}, {'connected_gene': 'CCKAR', 'score': 9.62}, {'connected_gene': 'PIR55333', 'score': 0.29}]
chr4 GH04I026603 26603195 26604355 0.2 [{'connected_gene': 'TBC1D19', 'score': 15.5}, {'connected_gene': 'CCKAR', 'score': 10.09}, {'connected_gene': 'PIR55333', 'score': 0.18}]
chr4 GH04I026318 26318361 26324391 2.3 [{'connected_gene': 'RBPJ', 'score': 550.1}, {'connected_gene': 'CCKAR', 'score': 4.45}, {'connected_gene': 'LOC105374542', 'score': 0.34}, {'connected_gene': 'GC04P026432', 'score': 0.14}]
chr4 GH04I026963 26963833 26966050 0.2 [{'connected_gene': 'LOC105374546', 'score': 9.87}, {'connected_gene': 'STIM2', 'score': 9.68}, {'connected_gene': 'CCKAR', 'score': 9.03}, {'connected_gene': 'GC04P026973', 'score': 0.44}, {'connected_gene': 'LOC100421493', 'score': 0.16}]
chr4 GH04I026524 26524857 26525802 0.31 [{'connected_gene': 'GC04M026372', 'score': 550.77}, {'connected_gene': 'CCKAR', 'score': 11.59}, {'connected_gene': 'TBC1D19', 'score': 10.72}]
chr4 GH04I026434 26434379 26434528 0.43 [{'connected_gene': 'GC04P026432', 'score': 550.77}, {'connected_gene': 'CCKAR', 'score': 0.22}, {'connected_gene': 'GC04M026372', 'score': 0.16}, {'connected_gene': 'RBPJ', 'score': 0.06}]
chr4 GH04I026452 26452659 26453613 0.56 [{'connected_gene': 'GC04P026432', 'score': 0.34}, {'connected_gene': 'CCKAR', 'score': 0.28}, {'connected_gene': 'GC04M026372', 'score': 0.19}]
chr4 GH04I026509 26509426 26511089 0.2 [{'connected_gene': 'GC04M026372', 'score': 0.39}, {'connected_gene': 'CCKAR', 'score': 0.37}]