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
ENST00000378454 [[24171983, 24175062], [24178557, 24178860], [24205229, 24205330], [24278276, 24278439], [24289079, 24289134], [24291159, 24291306], [24301942, 24302074], [24302195, 24302272], [24353796, 24353851], [24357685, 24358280]] [[24174957, 24175062], [24178557, 24178860], [24205229, 24205330], [24278276, 24278439], [24289079, 24289134], [24291159, 24291306], [24301942, 24302074], [24302195, 24302272], [24353796, 24353851], [24357685, 24357978]]
ENST00000378450 [[24171983, 24175062], [24178557, 24178860], [24205229, 24205531]] [[24174957, 24175062], [24178557, 24178860], [24205229, 24205511]]
ENST00000436313 [[24353459, 24353547], [24353796, 24353851], [24357685, 24357881]] [[24353532, 24353547], [24353796, 24353851], [24357685, 24357881]]
NM_016356 [[24171982, 24175062], [24178557, 24178860], [24205229, 24205330], [24278276, 24278439], [24289079, 24289134], [24291159, 24291306], [24301942, 24302074], [24302195, 24302272], [24353796, 24353851], [24357685, 24358280]] [[24174957, 24175062], [24178557, 24178860], [24205229, 24205330], [24278276, 24278439], [24289079, 24289134], [24291159, 24291306], [24301942, 24302074], [24302195, 24302272], [24353796, 24353851], [24357685, 24357978]]
NM_001195610 [[24171982, 24175062], [24178557, 24178860], [24205229, 24205330], [24278276, 24278439], [24289079, 24289134], [24291159, 24291306], [24301942, 24302074], [24302195, 24302272], [24353796, 24353851], [24357685, 24358075], [24383408, 24383520]] [[24174957, 24175062], [24178557, 24178860], [24205229, 24205330], [24278276, 24278439], [24289079, 24289134], [24291159, 24291306], [24301942, 24302074], [24302195, 24302272], [24353796, 24353851], [24357685, 24357978]]
Promoter
Chrom Start End Description
chr6 24358088 24358099 CAGE_peak_5_at_DCDC2_5end
chr6 24358114 24358125 CAGE_peak_4_at_DCDC2_5end
chr6 24358146 24358176 CAGE_peak_1_at_DCDC2_5end
chr6 24358196 24358199 CAGE_peak_8_at_DCDC2_5end
chr6 24358226 24358239 CAGE_peak_3_at_DCDC2_5end
chr6 24358264 24358295 CAGE_peak_2_at_DCDC2_5end
chr6 24358302 24358309 CAGE_peak_6_at_DCDC2_5end
chr6 24358328 24358339 CAGE_peak_7_at_DCDC2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I024399 24399304 24404562 2.26 [{'connected_gene': 'MRS2', 'score': 588.36}, {'connected_gene': 'PIR56278', 'score': 550.77}, {'connected_gene': 'ALDH5A1', 'score': 13.95}, {'connected_gene': 'DCDC2', 'score': 0.37}]
chr6 GH06I024385 24385397 24386213 1.11 [{'connected_gene': 'MRS2', 'score': 5.85}, {'connected_gene': 'DCDC2', 'score': 0.77}]
chr6 GH06I024685 24685943 24686180 0.22 [{'connected_gene': 'TDP2', 'score': 12.66}, {'connected_gene': 'KIAA0319', 'score': 10.48}, {'connected_gene': 'DCDC2', 'score': 5.44}, {'connected_gene': 'ENSG00000272345', 'score': 0.37}, {'connected_gene': 'ACOT13', 'score': 0.37}]
chr6 GH06I024382 24382062 24384050 1 [{'connected_gene': 'DCDC2', 'score': 550.77}, {'connected_gene': 'MRS2', 'score': 5.92}, {'connected_gene': 'RNU6-391P', 'score': 0.37}]
chr6 GH06I024357 24357038 24358640 1.69 [{'connected_gene': 'DCDC2', 'score': 555.53}, {'connected_gene': 'KAAG1', 'score': 550.77}, {'connected_gene': 'GC06P024361', 'score': 0.77}]
chr6 GH06I024312 24312534 24314663 1.34 [{'connected_gene': 'DCDC2', 'score': 16.77}, {'connected_gene': 'KAAG1', 'score': 7.12}, {'connected_gene': 'ENSG00000251830', 'score': 0.11}]
chr6 GH06I024331 24331958 24333326 0.49 [{'connected_gene': 'DCDC2', 'score': 5.38}, {'connected_gene': 'KAAG1', 'score': 0.34}, {'connected_gene': 'ENSG00000251830', 'score': 0.1}]
chr6 GH06I024348 24348440 24348692 0.22 [{'connected_gene': 'DCDC2', 'score': 5.83}, {'connected_gene': 'KAAG1', 'score': 2.05}, {'connected_gene': 'ENSG00000251830', 'score': 0.09}]
chr6 GH06I024321 24321514 24324833 1.09 [{'connected_gene': 'DCDC2', 'score': 12.68}, {'connected_gene': 'RNU6-391P', 'score': 11.05}, {'connected_gene': 'MRS2', 'score': 5.56}, {'connected_gene': 'KAAG1', 'score': 5.38}, {'connected_gene': 'ENSG00000251830', 'score': 0.1}]
chr6 GH06I024341 24341273 24341462 1.15 [{'connected_gene': 'KAAG1', 'score': 6.24}, {'connected_gene': 'DCDC2', 'score': 4.46}, {'connected_gene': 'ENSG00000251830', 'score': 0.1}]
chr6 GH06I024394 24394624 24395749 0.88 [{'connected_gene': 'RNU6-391P', 'score': 11.35}, {'connected_gene': 'MRS2', 'score': 0.44}, {'connected_gene': 'DCDC2', 'score': 0.39}]
chr6 GH06I024389 24389393 24389522 0.74 [{'connected_gene': 'RNU6-391P', 'score': 12.06}, {'connected_gene': 'DCDC2', 'score': 0.44}, {'connected_gene': 'MRS2', 'score': 0.39}]
chr6 GH06I024282 24282801 24284356 1.13 [{'connected_gene': 'RNU6-391P', 'score': 10.96}, {'connected_gene': 'KAAG1', 'score': 0.19}, {'connected_gene': 'DCDC2', 'score': 0.15}, {'connected_gene': 'ENSG00000251830', 'score': 0.13}]
chr6 GH06I024799 24799585 24799976 0.7 [{'connected_gene': 'C6orf229', 'score': 550.77}, {'connected_gene': 'GMNN', 'score': 5.72}, {'connected_gene': 'ALDH5A1', 'score': 3.28}, {'connected_gene': 'DCDC2', 'score': 3.18}, {'connected_gene': 'GPLD1', 'score': 1.58}, {'connected_gene': 'ENSG00000282804', 'score': 0.39}]
chr6 GH06I024359 24359588 24360960 1.18 [{'connected_gene': 'GC06P024361', 'score': 550.77}, {'connected_gene': 'MRS2', 'score': 14.54}, {'connected_gene': 'KAAG1', 'score': 0.77}, {'connected_gene': 'DCDC2', 'score': 0.34}]
chr6 GH06I024251 24251249 24252845 0.43 [{'connected_gene': 'ENSG00000251830', 'score': 0.17}, {'connected_gene': 'KAAG1', 'score': 0.15}, {'connected_gene': 'DCDC2', 'score': 0.12}]
chr6 GH06I024228 24228699 24229400 1.01 [{'connected_gene': 'ENSG00000251830', 'score': 0.21}, {'connected_gene': 'KAAG1', 'score': 0.13}, {'connected_gene': 'DCDC2', 'score': 0.1}]
chr6 GH06I024363 24363655 24363683 0.22 [{'connected_gene': 'GC06P024366', 'score': 550.77}, {'connected_gene': 'RNU6-391P', 'score': 550.77}, {'connected_gene': 'GPLD1', 'score': 3.04}, {'connected_gene': 'GC06P024361', 'score': 0.77}, {'connected_gene': 'DCDC2', 'score': 0.37}]