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
ENST00000370693 [[57037123, 57037608], [57046829, 57046939], [57048575, 57054631]] [[57037495, 57037608], [57046829, 57046939], [57048575, 57048988]]
ENST00000545080 [[57038233, 57038259], [57039000, 57039193], [57046829, 57046939], [57048575, 57049498]] [[57039179, 57039193], [57046829, 57046939], [57048575, 57048988]]
NM_004282 [[57037103, 57037608], [57046829, 57046939], [57048575, 57050013]] [[57037495, 57037608], [57046829, 57046939], [57048575, 57048988]]
Promoter
Chrom Start End Description
chr6 57037089 57037146 CAGE_peak_1_at_BAG2_5end
chr6 57037150 57037161 CAGE_peak_5_at_BAG2_5end
chr6 57037165 57037172 CAGE_peak_6_at_BAG2_5end
chr6 57037421 57037481 CAGE_peak_2_at_BAG2_5end
chr6 57037487 57037509 CAGE_peak_3_at_BAG2_5end
chr6 57037538 57037554 CAGE_peak_4_at_BAG2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I057257 57257338 57259726 1.02 [{'connected_gene': 'BAG2', 'score': 16.18}, {'connected_gene': 'LOC101927211', 'score': 10.4}, {'connected_gene': 'RAB23', 'score': 6.1}, {'connected_gene': 'KIAA1586', 'score': 5.01}, {'connected_gene': 'LOC100506188', 'score': 0.77}, {'connected_gene': 'GC06M057222', 'score': 0.44}, {'connected_gene': 'GC06P057245', 'score': 0.39}]
chr6 GH06I057176 57176496 57178681 0.58 [{'connected_gene': 'KIAA1586', 'score': 26.84}, {'connected_gene': 'PRIM2', 'score': 18.04}, {'connected_gene': 'ZNF451', 'score': 11.02}, {'connected_gene': 'LOC101927211', 'score': 0.77}, {'connected_gene': 'BAG2', 'score': 0.44}, {'connected_gene': 'RAB23', 'score': 0.26}]
chr6 GH06I057045 57045975 57048001 2.28 [{'connected_gene': 'KIAA1586', 'score': 565.35}, {'connected_gene': 'GC06M057041', 'score': 550.77}, {'connected_gene': 'PRIM2', 'score': 23.33}, {'connected_gene': 'BEND6', 'score': 16.01}, {'connected_gene': 'ZNF451', 'score': 11.43}, {'connected_gene': 'LOC101927211', 'score': 10.21}, {'connected_gene': 'BAG2', 'score': 10.21}, {'connected_gene': 'ENSG00000272316', 'score': 9.69}, {'connected_gene': 'PIR59769', 'score': 0.31}]
chr6 GH06I057181 57181083 57183127 0.43 [{'connected_gene': 'KIAA1586', 'score': 15.27}, {'connected_gene': 'RAB23', 'score': 11.89}, {'connected_gene': 'ZNF451', 'score': 11.01}, {'connected_gene': 'LOC101927211', 'score': 0.44}, {'connected_gene': 'BAG2', 'score': 0.44}]
chr6 GH06I057104 57104001 57104600 0.2 [{'connected_gene': 'KIAA1586', 'score': 10.77}, {'connected_gene': 'ZNF451', 'score': 4.92}, {'connected_gene': 'GC06M057088', 'score': 0.39}, {'connected_gene': 'BAG2', 'score': 0.2}]
chr6 GH06I057070 57070063 57070132 0.73 [{'connected_gene': 'KIAA1586', 'score': 11.45}, {'connected_gene': 'LOC101927211', 'score': 9.94}, {'connected_gene': 'BAG2', 'score': 9.94}, {'connected_gene': 'PIR59769', 'score': 0.77}]
chr6 GH06I057312 57312174 57318533 2.54 [{'connected_gene': 'PRIM2', 'score': 586.93}, {'connected_gene': 'BEND6', 'score': 14.14}, {'connected_gene': 'LOC101927211', 'score': 10.29}, {'connected_gene': 'BAG2', 'score': 10.29}, {'connected_gene': 'DST', 'score': 10.2}, {'connected_gene': 'RAB23', 'score': 1.38}, {'connected_gene': 'GC06P057297', 'score': 0.37}, {'connected_gene': 'GC06M057367', 'score': 0.22}]
chr6 GH06I057256 57256666 57256812 0.66 [{'connected_gene': 'PRIM2', 'score': 21.31}, {'connected_gene': 'LOC101927211', 'score': 10.4}, {'connected_gene': 'BAG2', 'score': 10.4}, {'connected_gene': 'LOC100506188', 'score': 0.44}, {'connected_gene': 'GC06M057222', 'score': 0.44}, {'connected_gene': 'GC06P057245', 'score': 0.39}]
chr6 GH06I056901 56901736 56903440 1.02 [{'connected_gene': 'BEND6', 'score': 45.87}, {'connected_gene': 'DST', 'score': 12.67}, {'connected_gene': 'BAG2', 'score': 10.0}, {'connected_gene': 'LOC101927211', 'score': 10.0}, {'connected_gene': 'GC06M056915', 'score': 0.37}, {'connected_gene': 'GC06P056873', 'score': 0.29}]
chr6 GH06I056904 56904243 56905292 0.98 [{'connected_gene': 'BEND6', 'score': 51.05}, {'connected_gene': 'DST', 'score': 12.68}, {'connected_gene': 'LOC101927211', 'score': 10.0}, {'connected_gene': 'BAG2', 'score': 10.0}, {'connected_gene': 'GC06M056915', 'score': 0.39}, {'connected_gene': 'GC06P056873', 'score': 0.29}]
chr6 GH06I056866 56866323 56870435 1.25 [{'connected_gene': 'LOC101930010', 'score': 17.36}, {'connected_gene': 'BEND6', 'score': 15.27}, {'connected_gene': 'LOC101927211', 'score': 9.41}, {'connected_gene': 'BAG2', 'score': 9.41}, {'connected_gene': 'RPL17P26', 'score': 0.77}, {'connected_gene': 'DST', 'score': 0.17}]
chr6 GH06I057225 57225000 57225201 0.62 [{'connected_gene': 'LOC101927211', 'score': 10.5}, {'connected_gene': 'BAG2', 'score': 10.5}, {'connected_gene': 'KIAA1586', 'score': 9.63}, {'connected_gene': 'RAB23', 'score': 0.77}, {'connected_gene': 'GC06M057241', 'score': 0.37}, {'connected_gene': 'GC06M057222', 'score': 0.28}]
chr6 GH06I057171 57171289 57176330 2.07 [{'connected_gene': 'LOC101927211', 'score': 550.77}, {'connected_gene': 'BAG2', 'score': 550.77}, {'connected_gene': 'KIAA1586', 'score': 29.45}, {'connected_gene': 'ZNF451', 'score': 27.09}, {'connected_gene': 'PRIM2', 'score': 13.52}, {'connected_gene': 'LINC00680', 'score': 11.85}]
chr6 GH06I057258 57257103 57257252 0.51 [{'connected_gene': 'LOC101927211', 'score': 10.4}, {'connected_gene': 'BAG2', 'score': 10.4}, {'connected_gene': 'PRIM2', 'score': 5.4}, {'connected_gene': 'LOC100506188', 'score': 0.44}, {'connected_gene': 'GC06M057222', 'score': 0.44}, {'connected_gene': 'GC06P057245', 'score': 0.39}]
chr6 GH06I057252 57252428 57254592 0.77 [{'connected_gene': 'LOC101927211', 'score': 10.41}, {'connected_gene': 'BAG2', 'score': 10.4}, {'connected_gene': 'LOC100506188', 'score': 0.44}, {'connected_gene': 'GC06P057245', 'score': 0.44}, {'connected_gene': 'GC06M057222', 'score': 0.39}]
chr6 GH06I057247 57247141 57248505 0.52 [{'connected_gene': 'LOC101927211', 'score': 10.1}, {'connected_gene': 'BAG2', 'score': 10.09}, {'connected_gene': 'GC06P057245', 'score': 0.77}, {'connected_gene': 'LOC100506188', 'score': 0.37}, {'connected_gene': 'GC06M057222', 'score': 0.37}]
chr6 GH06I057264 57264947 57266848 0.89 [{'connected_gene': 'LOC101927211', 'score': 10.7}, {'connected_gene': 'BAG2', 'score': 10.7}, {'connected_gene': 'GC06M057222', 'score': 0.77}, {'connected_gene': 'PIR59303', 'score': 0.37}]
chr6 GH06I057267 57267182 57268792 1.09 [{'connected_gene': 'LOC101927211', 'score': 10.2}, {'connected_gene': 'BAG2', 'score': 10.19}, {'connected_gene': 'GC06M057222', 'score': 0.77}, {'connected_gene': 'PIR59303', 'score': 0.37}]
chr6 GH06I057261 57261755 57264265 0.92 [{'connected_gene': 'LOC100506188', 'score': 550.77}, {'connected_gene': 'GC06M057222', 'score': 550.77}, {'connected_gene': 'BAG2', 'score': 16.14}, {'connected_gene': 'LOC101927211', 'score': 10.71}, {'connected_gene': 'BEND6', 'score': 4.65}, {'connected_gene': 'GC06P057245', 'score': 0.37}]
chr6 GH06I057241 57241902 57243634 1.26 [{'connected_gene': 'GC06M057241', 'score': 550.77}, {'connected_gene': 'ZNF451', 'score': 19.8}, {'connected_gene': 'PRIM2', 'score': 16.04}, {'connected_gene': 'BAG2', 'score': 15.67}, {'connected_gene': 'GUSBP4', 'score': 12.23}, {'connected_gene': 'ENSG00000272316', 'score': 10.64}, {'connected_gene': 'KIAA1586', 'score': 9.92}, {'connected_gene': 'LOC101927211', 'score': 9.78}, {'connected_gene': 'BEND6', 'score': 5.89}, {'connected_gene': 'GC06P057245', 'score': 0.77}, {'connected_gene': 'GC06M057222', 'score': 0.34}]