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
ENST00000305850 [[81040102, 81040882], [81045534, 81045715], [81047740, 81047786], [81050930, 81050990], [81051362, 81051439], [81053704, 81053881], [81056201, 81056303], [81058319, 81058383], [81060130, 81060243], [81061775, 81061902], [81062173, 81062927]] [[81045544, 81045715], [81047740, 81047786], [81050930, 81050990], [81051362, 81051439], [81053704, 81053881], [81056201, 81056303], [81058319, 81058383], [81060130, 81060243], [81061775, 81061902], [81062173, 81062256]]
ENST00000299572 [[81040156, 81040882], [81045534, 81045715], [81047740, 81047786], [81050930, 81050990], [81051362, 81051439], [81053704, 81053881], [81056359, 81056490]] [[81045544, 81045715], [81047740, 81047786], [81050930, 81050990], [81051362, 81051439], [81053704, 81053881], [81056359, 81056443]]
ENST00000439957 [[81040811, 81040882], [81045534, 81045715], [81047740, 81047786], [81051362, 81051439], [81053704, 81053881], [81056201, 81056303], [81058319, 81058383], [81060130, 81060243], [81061775, 81061902], [81062173, 81062914]] [[81045544, 81045715], [81047740, 81047786], [81051362, 81051439], [81053704, 81053881], [81056201, 81056303], [81058319, 81058383], [81060130, 81060243], [81061775, 81061902], [81062173, 81062256]]
ENST00000393335 [[81040818, 81040882], [81045534, 81045715], [81047740, 81047786], [81050930, 81050990], [81051362, 81051439], [81053704, 81053881], [81056201, 81056303], [81058319, 81058383], [81060130, 81060243], [81061775, 81061902], [81066174, 81066719]] [[81045544, 81045715], [81047740, 81047786], [81050930, 81050990], [81051362, 81051439], [81053704, 81053881], [81056201, 81056303], [81058319, 81058383], [81060130, 81060243], [81061775, 81061902], [81066174, 81066299]]
ENST00000569461 [[81040827, 81040882], [81045534, 81045715], [81047740, 81047786], [81053704, 81053751]] None
ENST00000428963 [[81040848, 81040882], [81045534, 81045715], [81047740, 81047786], [81050930, 81050990], [81051362, 81051439], [81053704, 81053881], [81058319, 81058383], [81060130, 81060243], [81061775, 81061902], [81062173, 81062265]] [[81045544, 81045715], [81047740, 81047786], [81050930, 81050990], [81051362, 81051439], [81053704, 81053881], [81058319, 81058383], [81060130, 81060243], [81061775, 81061902], [81062173, 81062256]]
ENST00000564669 [[81040861, 81041050], [81045534, 81045715], [81047740, 81047786], [81050930, 81050990], [81051362, 81051439], [81053704, 81053881]] [[81045544, 81045715], [81047740, 81047786], [81050930, 81050990], [81051362, 81051439], [81053704, 81053881]]
ENST00000568445 [[81040867, 81040882], [81045534, 81045715], [81047740, 81047996], [81050930, 81050990], [81051362, 81051441]] [[81045544, 81045715], [81047740, 81047800]]
ENST00000562943 [[81051359, 81051439], [81053704, 81053881], [81056201, 81056257], [81056331, 81056479]] [[81051359, 81051439], [81053704, 81053881], [81056201, 81056257], [81056331, 81056335]]
NM_018455 [[81040102, 81040882], [81045534, 81045715], [81047740, 81047786], [81050930, 81050990], [81051362, 81051439], [81053704, 81053881], [81056359, 81056487]] [[81045544, 81045715], [81047740, 81047786], [81050930, 81050990], [81051362, 81051439], [81053704, 81053881], [81056359, 81056443]]
NM_001270473 [[81040102, 81040882], [81045534, 81045715], [81047740, 81047786], [81051362, 81051439], [81053704, 81053881], [81056201, 81056303], [81058319, 81058383], [81060130, 81060243], [81061775, 81061902], [81062173, 81065090]] [[81045544, 81045715], [81047740, 81047786], [81051362, 81051439], [81053704, 81053881], [81056201, 81056303], [81058319, 81058383], [81060130, 81060243], [81061775, 81061902], [81062173, 81062256]]
NM_001270474 [[81040102, 81040882], [81045534, 81045715], [81047740, 81047786], [81050930, 81050990], [81051362, 81051439], [81053704, 81053881], [81058319, 81058383], [81060130, 81060243], [81061775, 81061902], [81062173, 81065090]] [[81045544, 81045715], [81047740, 81047786], [81050930, 81050990], [81051362, 81051439], [81053704, 81053881], [81058319, 81058383], [81060130, 81060243], [81061775, 81061902], [81062173, 81062256]]
NM_001100624 [[81040102, 81040882], [81045534, 81045715], [81047740, 81047786], [81050930, 81050990], [81051362, 81051439], [81053704, 81053881], [81056201, 81056303], [81058319, 81058383], [81060130, 81060243], [81061775, 81061902], [81062173, 81065090]] [[81045544, 81045715], [81047740, 81047786], [81050930, 81050990], [81051362, 81051439], [81053704, 81053881], [81056201, 81056303], [81058319, 81058383], [81060130, 81060243], [81061775, 81061902], [81062173, 81062256]]
NM_001100625 [[81040102, 81040882], [81045534, 81045715], [81047740, 81047786], [81050930, 81050990], [81051362, 81051439], [81053704, 81053881], [81056201, 81056303], [81058319, 81058383], [81060130, 81060243], [81061775, 81061902], [81066174, 81066712]] [[81045544, 81045715], [81047740, 81047786], [81050930, 81050990], [81051362, 81051439], [81053704, 81053881], [81056201, 81056303], [81058319, 81058383], [81060130, 81060243], [81061775, 81061902], [81066174, 81066299]]
Promoter
Chrom Start End Description
chr16 81040113 81040172 CAGE_peak_2_at_CENPN_5end
chr16 81040794 81040865 CAGE_peak_1_at_CENPN_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I081003 81003371 81008944 2.33 [{'connected_gene': 'CMC2', 'score': 558.05}, {'connected_gene': 'CENPN', 'score': 557.33}, {'connected_gene': 'ENSG00000260213', 'score': 14.08}, {'connected_gene': 'ATMIN', 'score': 11.94}, {'connected_gene': 'GCSH', 'score': 7.05}, {'connected_gene': 'ENSG00000278985', 'score': 0.34}]
chr16 GH16I081016 81016745 81023033 0.31 [{'connected_gene': 'CMC2', 'score': 557.09}, {'connected_gene': 'ATMIN', 'score': 20.83}, {'connected_gene': 'ENSG00000260213', 'score': 16.8}, {'connected_gene': 'GCSH', 'score': 11.03}, {'connected_gene': 'CENPN', 'score': 0.39}, {'connected_gene': 'ENSG00000284512', 'score': 0.18}]
chr16 GH16I081872 81872716 81872865 0.4 [{'connected_gene': 'CENPN', 'score': 6.59}, {'connected_gene': 'GC16M081818', 'score': 0.23}, {'connected_gene': 'GC16P081959', 'score': 0.17}, {'connected_gene': 'PLCG2', 'score': 0.12}]
chr16 GH16I081873 81872869 81875305 0.92 [{'connected_gene': 'PLCG2', 'score': 12.39}, {'connected_gene': 'CENPN', 'score': 6.61}, {'connected_gene': 'GC16M081818', 'score': 0.22}, {'connected_gene': 'GC16P081959', 'score': 0.17}]
chr16 GH16I080803 80803200 80810618 2.32 [{'connected_gene': 'CDYL2', 'score': 579.18}, {'connected_gene': 'GCSH', 'score': 5.26}, {'connected_gene': 'CENPN', 'score': 3.14}, {'connected_gene': 'CMC2', 'score': 2.61}, {'connected_gene': 'ATMIN', 'score': 1.75}, {'connected_gene': 'LINC02170', 'score': 0.17}]
chr16 GH16I080996 80996462 80998491 1.62 [{'connected_gene': 'ENSG00000260213', 'score': 12.24}, {'connected_gene': 'CMC2', 'score': 6.26}, {'connected_gene': 'CENPN', 'score': 0.44}, {'connected_gene': 'ENSG00000278985', 'score': 0.39}]
chr16 GH16I080987 80987636 80987785 0.46 [{'connected_gene': 'ENSG00000278985', 'score': 0.77}, {'connected_gene': 'CENPN', 'score': 0.37}, {'connected_gene': 'CMC2', 'score': 0.29}]
chr16 GH16I080991 80991041 80994939 1.6 [{'connected_gene': 'ENSG00000260213', 'score': 13.85}, {'connected_gene': 'ATMIN', 'score': 11.83}, {'connected_gene': 'CENPN', 'score': 6.3}, {'connected_gene': 'CMC2', 'score': 6.23}, {'connected_gene': 'ENSG00000278985', 'score': 0.44}]
chr16 GH16I080935 80935579 80940051 1.53 [{'connected_gene': 'ENSG00000260213', 'score': 14.43}, {'connected_gene': 'ATMIN', 'score': 8.19}, {'connected_gene': 'CENPN', 'score': 6.38}, {'connected_gene': 'GC16P080969', 'score': 0.29}, {'connected_gene': 'LINC02170', 'score': 0.25}]

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