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
ENST00000316334 [[28120049, 28122607], [28124469, 28124628], [28127344, 28127576], [28130372, 28130550], [28133978, 28134122], [28136549, 28136918], [28141776, 28141976], [28143165, 28143413], [28155433, 28155940], [28194511, 28194541]] [[28122471, 28122607], [28124469, 28124628], [28127344, 28127576], [28130372, 28130550], [28133978, 28134122], [28136549, 28136918], [28141776, 28141976], [28143165, 28143413], [28155433, 28155840]]
NM_153371 [[28120049, 28122607], [28124469, 28124628], [28127344, 28127576], [28130372, 28130550], [28133978, 28134122], [28136549, 28136918], [28141776, 28141976], [28143165, 28143413], [28155433, 28155940], [28194511, 28194720]] [[28122471, 28122607], [28124469, 28124628], [28127344, 28127576], [28130372, 28130550], [28133978, 28134122], [28136549, 28136918], [28141776, 28141976], [28143165, 28143413], [28155433, 28155840]]
Promoter
Chrom Start End Description
chr13 28194640 28194652 CAGE_peak_2_at_LNX2_5end
chr13 28194657 28194751 CAGE_peak_1_at_LNX2_5end
chr13 28195210 28195220 CAGE_peak_7_at_LNX2_5end
chr13 28195229 28195261 CAGE_peak_3_at_LNX2_5end
chr13 28195482 28195491 CAGE_peak_4_at_LNX2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I027617 27617884 27623193 2.27 [{'connected_gene': 'POLR1D', 'score': 581.68}, {'connected_gene': 'LNX2', 'score': 565.3}, {'connected_gene': 'PAN3', 'score': 25.31}, {'connected_gene': 'RNU6-63P', 'score': 0.12}]
chr13 GH13I027476 27476899 27478265 1.2 [{'connected_gene': 'POLR1D', 'score': 12.17}, {'connected_gene': 'LNX2', 'score': 10.57}, {'connected_gene': 'MTIF3', 'score': 7.38}, {'connected_gene': 'RNU6-63P', 'score': 0.39}, {'connected_gene': 'GC13P027459', 'score': 0.37}]
chr13 GH13I027638 27637231 27637468 0.6 [{'connected_gene': 'POLR1D', 'score': 13.1}, {'connected_gene': 'LNX2', 'score': 4.9}, {'connected_gene': 'GC13P027624', 'score': 0.39}, {'connected_gene': 'LOC105370128', 'score': 0.26}]
chr13 GH13I027641 27641667 27645510 1.21 [{'connected_gene': 'POLR1D', 'score': 25.24}, {'connected_gene': 'LNX2', 'score': 11.88}, {'connected_gene': 'RNU6-63P', 'score': 10.09}, {'connected_gene': 'GC13P027624', 'score': 0.37}, {'connected_gene': 'LOC105370128', 'score': 0.28}]
chr13 GH13I027652 27652142 27652666 0.2 [{'connected_gene': 'POLR1D', 'score': 18.63}, {'connected_gene': 'LNX2', 'score': 11.83}, {'connected_gene': 'RNU6-63P', 'score': 9.76}, {'connected_gene': 'GC13P027624', 'score': 0.31}, {'connected_gene': 'LOC105370128', 'score': 0.31}]
chr13 GH13I027613 27612978 27614596 0.71 [{'connected_gene': 'POLR1D', 'score': 24.71}, {'connected_gene': 'LNX2', 'score': 8.38}, {'connected_gene': 'RNU6-63P', 'score': 0.13}]
chr13 GH13I027612 27612035 27612596 0.31 [{'connected_gene': 'POLR1D', 'score': 7.22}, {'connected_gene': 'LNX2', 'score': 0.44}, {'connected_gene': 'RNU6-63P', 'score': 0.13}]
chr13 GH13I027599 27599446 27600854 0.95 [{'connected_gene': 'POLR1D', 'score': 36.33}, {'connected_gene': 'LNX2', 'score': 19.75}, {'connected_gene': 'RNU6-63P', 'score': 0.14}]
chr13 GH13I027578 27578370 27579197 0.59 [{'connected_gene': 'POLR1D', 'score': 30.71}, {'connected_gene': 'LNX2', 'score': 10.98}, {'connected_gene': 'RNU6-63P', 'score': 0.16}]
chr13 GH13I027604 27604671 27608007 0.94 [{'connected_gene': 'POLR1D', 'score': 10.07}, {'connected_gene': 'LNX2', 'score': 9.35}, {'connected_gene': 'RNU6-63P', 'score': 0.13}]
chr13 GH13I027548 27548810 27551853 0.78 [{'connected_gene': 'POLR1D', 'score': 20.17}, {'connected_gene': 'LNX2', 'score': 19.48}, {'connected_gene': 'RNU6-63P', 'score': 11.02}]
chr13 GH13I027573 27573059 27573748 0.51 [{'connected_gene': 'POLR1D', 'score': 19.29}, {'connected_gene': 'LNX2', 'score': 0.25}, {'connected_gene': 'RNU6-63P', 'score': 0.17}]
chr13 GH13I027383 27383456 27383675 0.64 [{'connected_gene': 'RASL11A', 'score': 15.15}, {'connected_gene': 'GTF3A', 'score': 13.18}, {'connected_gene': 'RNU6-70P', 'score': 10.89}, {'connected_gene': 'RNU6-63P', 'score': 10.64}, {'connected_gene': 'LNX2', 'score': 10.44}, {'connected_gene': 'POLR1D', 'score': 10.44}, {'connected_gene': 'PLUT', 'score': 10.22}, {'connected_gene': 'PDX1', 'score': 10.22}, {'connected_gene': 'MTIF3', 'score': 4.72}, {'connected_gene': 'LOC105370126', 'score': 0.44}, {'connected_gene': 'GC13M027403', 'score': 0.37}, {'connected_gene': 'RNY1P1', 'score': 0.37}]
chr13 GH13I027380 27380024 27380213 0.67 [{'connected_gene': 'GTF3A', 'score': 11.79}, {'connected_gene': 'LNX2', 'score': 10.6}, {'connected_gene': 'POLR1D', 'score': 10.6}, {'connected_gene': 'RNU6-63P', 'score': 10.28}, {'connected_gene': 'LOC105370126', 'score': 0.44}, {'connected_gene': 'GC13M027403', 'score': 0.34}, {'connected_gene': 'RNY1P1', 'score': 0.34}]
chr13 GH13I027384 27383704 27383853 0.71 [{'connected_gene': 'GTF3A', 'score': 11.17}, {'connected_gene': 'RNU6-70P', 'score': 10.87}, {'connected_gene': 'RNU6-63P', 'score': 10.64}, {'connected_gene': 'LNX2', 'score': 10.44}, {'connected_gene': 'POLR1D', 'score': 10.44}, {'connected_gene': 'RASL11A', 'score': 10.42}, {'connected_gene': 'PLUT', 'score': 10.22}, {'connected_gene': 'PDX1', 'score': 10.22}, {'connected_gene': 'LOC105370126', 'score': 0.44}, {'connected_gene': 'GC13M027403', 'score': 0.37}, {'connected_gene': 'RNY1P1', 'score': 0.37}]
chr13 GH13I027473 27473064 27473213 0.31 [{'connected_gene': 'LNX2', 'score': 10.57}, {'connected_gene': 'POLR1D', 'score': 10.57}, {'connected_gene': 'MTIF3', 'score': 6.87}, {'connected_gene': 'RNU6-63P', 'score': 0.39}, {'connected_gene': 'GC13P027459', 'score': 0.39}]
chr13 GH13I027533 27533002 27533600 1 [{'connected_gene': 'LNX2', 'score': 10.69}, {'connected_gene': 'POLR1D', 'score': 10.69}, {'connected_gene': 'RNU6-63P', 'score': 10.38}, {'connected_gene': 'MTIF3', 'score': 9.33}]
chr13 GH13I027469 27469890 27471362 0.38 [{'connected_gene': 'MTIF3', 'score': 26.49}, {'connected_gene': 'LNX2', 'score': 10.57}, {'connected_gene': 'POLR1D', 'score': 10.56}, {'connected_gene': 'GC13P027459', 'score': 0.39}, {'connected_gene': 'RNU6-63P', 'score': 0.37}]
chr13 GH13I027372 27372510 27375334 0.94 [{'connected_gene': 'LINC01079', 'score': 550.77}, {'connected_gene': 'LOC105370126', 'score': 550.77}, {'connected_gene': 'GTF3A', 'score': 11.76}, {'connected_gene': 'LNX2', 'score': 10.6}, {'connected_gene': 'POLR1D', 'score': 10.6}, {'connected_gene': 'RNU6-63P', 'score': 10.27}]
chr13 GH13I027375 27375844 27375993 0.62 [{'connected_gene': 'LOC105370126', 'score': 550.77}, {'connected_gene': 'GTF3A', 'score': 11.77}, {'connected_gene': 'LNX2', 'score': 10.6}, {'connected_gene': 'POLR1D', 'score': 10.6}, {'connected_gene': 'RNU6-63P', 'score': 10.27}, {'connected_gene': 'GC13M027403', 'score': 0.31}, {'connected_gene': 'RNY1P1', 'score': 0.31}]
chr13 GH13I027958 27958858 27982215 2 [{'connected_gene': 'CDX2', 'score': 557.17}, {'connected_gene': 'URAD', 'score': 22.79}, {'connected_gene': 'RPL21', 'score': 12.76}, {'connected_gene': 'PLUT', 'score': 12.55}, {'connected_gene': 'PDX1', 'score': 12.54}, {'connected_gene': 'GSX1', 'score': 10.83}, {'connected_gene': 'RN7SL272P', 'score': 10.79}, {'connected_gene': 'LNX2', 'score': 1.62}, {'connected_gene': 'FLT3', 'score': 1.36}, {'connected_gene': 'GC13M027960', 'score': 0.44}, {'connected_gene': 'LOC105370132', 'score': 0.44}]
chr13 GH13I027559 27559844 27559993 0.2 [{'connected_gene': 'RNU6-63P', 'score': 10.72}, {'connected_gene': 'LNX2', 'score': 10.65}, {'connected_gene': 'POLR1D', 'score': 10.65}]
chr13 GH13I027505 27505096 27505601 0.4 [{'connected_gene': 'RNU6-63P', 'score': 0.37}, {'connected_gene': 'LNX2', 'score': 0.13}]
chr13 GH13I027569 27569524 27569613 0.6 [{'connected_gene': 'RNU6-63P', 'score': 10.01}, {'connected_gene': 'LNX2', 'score': 0.23}]
chr13 GH13I027396 27396173 27396810 0.83 [{'connected_gene': 'PLUT', 'score': 10.88}, {'connected_gene': 'PDX1', 'score': 10.88}, {'connected_gene': 'RNU6-63P', 'score': 10.78}, {'connected_gene': 'LNX2', 'score': 10.32}, {'connected_gene': 'POLR1D', 'score': 10.32}, {'connected_gene': 'GC13M027403', 'score': 0.44}, {'connected_gene': 'RNY1P1', 'score': 0.44}, {'connected_gene': 'LOC105370126', 'score': 0.34}]