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
ENST00000299529 [[78632665, 78632840], [78633384, 78633563], [78635840, 78635954], [78640268, 78640572]] [[78632770, 78632840], [78633384, 78633563], [78635840, 78635954], [78640268, 78640319]]
ENST00000406419 [[78632817, 78632840], [78633384, 78633678], [78635840, 78635954], [78640268, 78640420]] [[78632817, 78632840], [78633384, 78633678], [78635840, 78635863]]
ENST00000560753 [[78640162, 78640563]] None
NM_004378 [[78632665, 78632840], [78633384, 78633563], [78635840, 78635954], [78640268, 78640572]] [[78632770, 78632840], [78633384, 78633563], [78635840, 78635954], [78640268, 78640319]]
Promoter
Chrom Start End Description
chr15 78632686 78632701 CAGE_peak_1_at_CRABP1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I078453 78453201 78457704 1.26 [{'connected_gene': 'PSMA4', 'score': 19.94}, {'connected_gene': 'IREB2', 'score': 16.27}, {'connected_gene': 'WDR61', 'score': 10.41}, {'connected_gene': 'CRABP1', 'score': 9.98}, {'connected_gene': 'ENSG00000259474', 'score': 0.31}, {'connected_gene': 'GC15M078021', 'score': 0.07}]
chr15 GH15I078263 78263669 78267781 1.69 [{'connected_gene': 'DNAJA4', 'score': 560.02}, {'connected_gene': 'LOC105370911', 'score': 550.77}, {'connected_gene': 'CRABP1', 'score': 10.39}, {'connected_gene': 'IREB2', 'score': 10.07}, {'connected_gene': 'ENSG00000259562', 'score': 9.84}, {'connected_gene': 'LOC645752', 'score': 7.59}, {'connected_gene': 'LOC105370910', 'score': 0.39}, {'connected_gene': 'GC15M078021', 'score': 0.04}]
chr15 GH15I078315 78315392 78317578 0.92 [{'connected_gene': 'IREB2', 'score': 32.08}, {'connected_gene': 'ENSG00000259562', 'score': 32.05}, {'connected_gene': 'WDR61', 'score': 22.65}, {'connected_gene': 'ENSG00000260988', 'score': 21.07}, {'connected_gene': 'CRABP1', 'score': 12.44}, {'connected_gene': 'ACSBG1', 'score': 10.18}, {'connected_gene': 'ENSG00000259322', 'score': 10.12}, {'connected_gene': 'HYKK', 'score': 9.79}, {'connected_gene': 'CHRNA5', 'score': 9.57}, {'connected_gene': 'DNAJA4', 'score': 8.93}, {'connected_gene': 'GC15P078331', 'score': 0.39}, {'connected_gene': 'GC15M078021', 'score': 0.05}]
chr15 GH15I078494 78494905 78495729 0.59 [{'connected_gene': 'IREB2', 'score': 10.94}, {'connected_gene': 'WDR61', 'score': 10.03}, {'connected_gene': 'CRABP1', 'score': 10.03}, {'connected_gene': 'GC15M078501', 'score': 0.44}, {'connected_gene': 'GC15M078500', 'score': 0.44}, {'connected_gene': 'ENSG00000259474', 'score': 0.39}, {'connected_gene': 'GC15M078021', 'score': 0.08}]
chr15 GH15I078411 78411164 78411268 0.51 [{'connected_gene': 'IREB2', 'score': 11.51}, {'connected_gene': 'CRABP1', 'score': 11.29}, {'connected_gene': 'SH2D7', 'score': 9.82}, {'connected_gene': 'TBC1D2B', 'score': 9.82}, {'connected_gene': 'DNAJA4', 'score': 2.06}, {'connected_gene': 'ENSG00000259413', 'score': 0.31}, {'connected_gene': 'RWDD1P1', 'score': 0.31}, {'connected_gene': 'GC15M078021', 'score': 0.06}]
chr15 GH15I078388 78388846 78390283 0.43 [{'connected_gene': 'IREB2', 'score': 16.28}, {'connected_gene': 'CRABP1', 'score': 11.9}, {'connected_gene': 'CIB2', 'score': 5.38}, {'connected_gene': 'LOC645752', 'score': 4.46}, {'connected_gene': 'ENSG00000259413', 'score': 0.44}, {'connected_gene': 'RWDD1P1', 'score': 0.44}, {'connected_gene': 'LOC105370912', 'score': 0.39}, {'connected_gene': 'GC15M078021', 'score': 0.06}]
chr15 GH15I078307 78307982 78308877 0.95 [{'connected_gene': 'IREB2', 'score': 22.25}, {'connected_gene': 'ENSG00000259562', 'score': 22.17}, {'connected_gene': 'HYKK', 'score': 19.21}, {'connected_gene': 'WDR61', 'score': 16.37}, {'connected_gene': 'CRABP1', 'score': 11.05}, {'connected_gene': 'ENSG00000260988', 'score': 10.15}, {'connected_gene': 'ENSG00000259322', 'score': 10.14}, {'connected_gene': 'GC15P078331', 'score': 0.34}, {'connected_gene': 'GC15M078021', 'score': 0.05}]
chr15 GH15I078340 78340714 78342288 0.6 [{'connected_gene': 'CRABP1', 'score': 555.55}, {'connected_gene': 'ENSG00000279694', 'score': 550.77}, {'connected_gene': 'WDR61', 'score': 12.65}, {'connected_gene': 'ENSG00000259562', 'score': 10.31}, {'connected_gene': 'HMG20A', 'score': 10.15}, {'connected_gene': 'ENSG00000260988', 'score': 9.96}, {'connected_gene': 'CSPG4P13', 'score': 5.05}, {'connected_gene': 'GC15M078021', 'score': 0.05}]
chr15 GH15I078341 78340219 78340703 1.06 [{'connected_gene': 'CRABP1', 'score': 550.77}, {'connected_gene': 'ENSG00000279694', 'score': 550.77}, {'connected_gene': 'WDR61', 'score': 12.65}, {'connected_gene': 'ENSG00000259562', 'score': 10.33}, {'connected_gene': 'HMG20A', 'score': 10.15}, {'connected_gene': 'ENSG00000260988', 'score': 9.96}, {'connected_gene': 'GC15M078021', 'score': 0.05}]
chr15 GH15I078399 78399037 78399600 0.58 [{'connected_gene': 'CRABP1', 'score': 11.63}, {'connected_gene': 'IREB2', 'score': 11.12}, {'connected_gene': 'ENSG00000259413', 'score': 0.37}, {'connected_gene': 'RWDD1P1', 'score': 0.37}, {'connected_gene': 'LOC105370912', 'score': 0.34}, {'connected_gene': 'GC15M078021', 'score': 0.06}]
chr15 GH15I078387 78387839 78387988 0.2 [{'connected_gene': 'CRABP1', 'score': 11.9}, {'connected_gene': 'IREB2', 'score': 10.55}, {'connected_gene': 'ENSG00000259413', 'score': 0.44}, {'connected_gene': 'RWDD1P1', 'score': 0.44}, {'connected_gene': 'LOC105370912', 'score': 0.39}, {'connected_gene': 'GC15M078021', 'score': 0.06}]
chr15 GH15I078405 78405639 78405788 0.2 [{'connected_gene': 'CRABP1', 'score': 11.56}, {'connected_gene': 'IREB2', 'score': 11.33}, {'connected_gene': 'ENSG00000259413', 'score': 0.34}, {'connected_gene': 'RWDD1P1', 'score': 0.34}, {'connected_gene': 'LOC105370912', 'score': 0.29}, {'connected_gene': 'GC15M078021', 'score': 0.06}]
chr15 GH15I078390 78390939 78391088 0.2 [{'connected_gene': 'CRABP1', 'score': 11.89}, {'connected_gene': 'IREB2', 'score': 10.55}, {'connected_gene': 'ENSG00000259413', 'score': 0.44}, {'connected_gene': 'RWDD1P1', 'score': 0.44}, {'connected_gene': 'LOC105370912', 'score': 0.37}, {'connected_gene': 'GC15M078021', 'score': 0.06}]
chr15 GH15I078389 78387468 78387668 0.2 [{'connected_gene': 'CRABP1', 'score': 11.9}, {'connected_gene': 'IREB2', 'score': 10.55}, {'connected_gene': 'ENSG00000259413', 'score': 0.77}, {'connected_gene': 'RWDD1P1', 'score': 0.77}, {'connected_gene': 'LOC105370912', 'score': 0.39}, {'connected_gene': 'GC15M078021', 'score': 0.06}]
chr15 GH15I078391 78390345 78390581 0.43 [{'connected_gene': 'CRABP1', 'score': 11.89}, {'connected_gene': 'IREB2', 'score': 10.55}, {'connected_gene': 'ENSG00000259413', 'score': 0.44}, {'connected_gene': 'RWDD1P1', 'score': 0.44}, {'connected_gene': 'LOC105370912', 'score': 0.37}, {'connected_gene': 'GC15M078021', 'score': 0.06}]
chr15 GH15I078275 78275430 78277745 0.86 [{'connected_gene': 'CRABP1', 'score': 10.3}, {'connected_gene': 'IREB2', 'score': 10.14}, {'connected_gene': 'TBC1D2B', 'score': 9.93}, {'connected_gene': 'SH2D7', 'score': 9.93}, {'connected_gene': 'ENSG00000259562', 'score': 9.31}, {'connected_gene': 'WDR61', 'score': 6.23}, {'connected_gene': 'LOC105370910', 'score': 0.77}, {'connected_gene': 'LOC105370911', 'score': 0.39}, {'connected_gene': 'DNAJA4', 'score': 0.39}, {'connected_gene': 'GC15M078021', 'score': 0.05}]
chr15 GH15I078305 78305412 78307516 1.08 [{'connected_gene': 'CRABP1', 'score': 11.05}, {'connected_gene': 'IREB2', 'score': 10.36}, {'connected_gene': 'HYKK', 'score': 10.17}, {'connected_gene': 'WDR61', 'score': 8.03}, {'connected_gene': 'DNAJA4', 'score': 4.66}, {'connected_gene': 'GC15P078331', 'score': 0.34}, {'connected_gene': 'GC15M078021', 'score': 0.05}]
chr15 GH15I078397 78397019 78397208 0.67 [{'connected_gene': 'CRABP1', 'score': 11.33}, {'connected_gene': 'IREB2', 'score': 10.91}, {'connected_gene': 'HYKK', 'score': 10.83}, {'connected_gene': 'ENSG00000259413', 'score': 0.39}, {'connected_gene': 'RWDD1P1', 'score': 0.39}, {'connected_gene': 'LOC105370912', 'score': 0.34}, {'connected_gene': 'GC15M078021', 'score': 0.06}]
chr15 GH15I078394 78394839 78395776 0.71 [{'connected_gene': 'CRABP1', 'score': 11.71}, {'connected_gene': 'IREB2', 'score': 11.1}, {'connected_gene': 'HYKK', 'score': 10.83}, {'connected_gene': 'CIB2', 'score': 4.5}, {'connected_gene': 'ENSG00000259413', 'score': 0.39}, {'connected_gene': 'RWDD1P1', 'score': 0.39}, {'connected_gene': 'LOC105370912', 'score': 0.37}, {'connected_gene': 'GC15M078021', 'score': 0.06}]
chr15 GH15I078564 78564707 78566946 1.93 [{'connected_gene': 'CHRNA5', 'score': 598.59}, {'connected_gene': 'PSMA4', 'score': 13.84}, {'connected_gene': 'IREB2', 'score': 13.14}, {'connected_gene': 'TBC1D2B', 'score': 10.96}, {'connected_gene': 'HYKK', 'score': 10.75}, {'connected_gene': 'MORF4L1', 'score': 9.42}, {'connected_gene': 'ADAMTS7', 'score': 9.41}, {'connected_gene': 'CRABP1', 'score': 9.36}, {'connected_gene': 'RASGRF1', 'score': 4.7}, {'connected_gene': 'ENSG00000261762', 'score': 0.31}, {'connected_gene': 'GC15M078021', 'score': 0.12}]
chr15 GH15I078460 78460972 78462348 1 [{'connected_gene': 'CHRNA5', 'score': 43.9}, {'connected_gene': 'IREB2', 'score': 21.22}, {'connected_gene': 'WDR61', 'score': 11.07}, {'connected_gene': 'CRABP1', 'score': 10.27}, {'connected_gene': 'ACSBG1', 'score': 1.9}, {'connected_gene': 'ENSG00000259474', 'score': 0.34}, {'connected_gene': 'GC15M078021', 'score': 0.07}]
chr15 GH15I078447 78447512 78451094 1.19 [{'connected_gene': 'CHRNA5', 'score': 33.71}, {'connected_gene': 'CRABP1', 'score': 10.19}, {'connected_gene': 'PSMA4', 'score': 9.2}, {'connected_gene': 'IREB2', 'score': 0.39}, {'connected_gene': 'ENSG00000259474', 'score': 0.29}, {'connected_gene': 'GC15M078021', 'score': 0.07}]
chr15 GH15I078671 78671239 78672483 0.66 [{'connected_gene': 'CHRNA5', 'score': 16.31}, {'connected_gene': 'CRABP1', 'score': 9.54}, {'connected_gene': 'CHRNB4', 'score': 6.58}, {'connected_gene': 'GC15M078668', 'score': 0.77}, {'connected_gene': 'LOC646934', 'score': 0.39}, {'connected_gene': 'RPL18P11', 'score': 0.39}, {'connected_gene': 'GC15M078021', 'score': 0.31}]
chr15 GH15I078346 78346947 78349023 0.73 [{'connected_gene': 'GC15P078347', 'score': 550.77}, {'connected_gene': 'IREB2', 'score': 10.49}, {'connected_gene': 'LOC645752', 'score': 6.18}, {'connected_gene': 'CRABP1', 'score': 0.44}, {'connected_gene': 'LOC105370912', 'score': 0.31}, {'connected_gene': 'GC15M078021', 'score': 0.05}]
chr15 GH15I078417 78417922 78420045 0.82 [{'connected_gene': 'ENSG00000259562', 'score': 70.62}, {'connected_gene': 'IREB2', 'score': 49.74}, {'connected_gene': 'TBC1D2B', 'score': 33.09}, {'connected_gene': 'WDR61', 'score': 20.99}, {'connected_gene': 'ENSG00000259322', 'score': 11.81}, {'connected_gene': 'CRABP1', 'score': 11.68}, {'connected_gene': 'CHRNA5', 'score': 11.32}, {'connected_gene': 'HMG20A', 'score': 9.73}, {'connected_gene': 'PSMA4', 'score': 7.03}, {'connected_gene': 'ENSG00000259413', 'score': 0.28}, {'connected_gene': 'RWDD1P1', 'score': 0.28}, {'connected_gene': 'GC15M078021', 'score': 0.06}]
chr15 GH15I078331 78331399 78331933 0.31 [{'connected_gene': 'GC15P078331', 'score': 550.77}, {'connected_gene': 'IREB2', 'score': 10.34}, {'connected_gene': 'CRABP1', 'score': 0.44}, {'connected_gene': 'GC15M078021', 'score': 0.05}]
chr15 GH15I078291 78291799 78291948 0.74 [{'connected_gene': 'ENSG00000259562', 'score': 550.77}, {'connected_gene': 'ENSG00000259322', 'score': 550.77}, {'connected_gene': 'CRABP1', 'score': 10.86}, {'connected_gene': 'WDR61', 'score': 0.44}, {'connected_gene': 'GC15M078021', 'score': 0.05}]