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
ENST00000335783 [[49431090, 49431166], [49437871, 49437991], [49438686, 49438741], [49439775, 49439896], [49440502, 49440571], [49448663, 49448793], [49456064, 49456184], [49456319, 49456397], [49459856, 49460820]] [[49437889, 49437991], [49438686, 49438741], [49439775, 49439896], [49440502, 49440571], [49448663, 49448793], [49456064, 49456184], [49456319, 49456397], [49459856, 49459988]]
NM_018132 [[49431095, 49431166], [49437871, 49437991], [49438686, 49438741], [49439775, 49439896], [49440502, 49440571], [49448663, 49448793], [49456064, 49456184], [49456319, 49456397], [49459856, 49460820]] [[49437889, 49437991], [49438686, 49438741], [49439775, 49439896], [49440502, 49440571], [49448663, 49448793], [49456064, 49456184], [49456319, 49456397], [49459856, 49459988]]
Promoter
Chrom Start End Description
chr6 49431048 49431059 CAGE_peak_2_at_CENPQ_5end
chr6 49431073 49431135 CAGE_peak_1_at_CENPQ_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I049645 49645230 49648676 1.22 [{'connected_gene': 'RHAG', 'score': 20.38}, {'connected_gene': 'LOC101927020', 'score': 10.5}, {'connected_gene': 'LOC101927048', 'score': 10.5}, {'connected_gene': 'CRISP3', 'score': 10.37}, {'connected_gene': 'C6orf141', 'score': 8.13}, {'connected_gene': 'CENPQ', 'score': 2.19}, {'connected_gene': 'CRISP2', 'score': 0.2}]
chr6 GH06I049555 49555607 49557565 1.38 [{'connected_gene': 'CENPQ', 'score': 12.81}, {'connected_gene': 'PGK2', 'score': 9.9}, {'connected_gene': 'LOC101927020', 'score': 9.35}, {'connected_gene': 'LOC101927048', 'score': 9.35}, {'connected_gene': 'MUT', 'score': 7.51}, {'connected_gene': 'C6orf141', 'score': 0.44}, {'connected_gene': 'CYP2AC1P', 'score': 0.34}]
chr6 GH06I049339 49339241 49339782 0.46 [{'connected_gene': 'CENPQ', 'score': 6.01}, {'connected_gene': 'RNU7-65P', 'score': 0.44}, {'connected_gene': 'ENSG00000217631', 'score': 0.2}]
chr6 GH06I049341 49341787 49343324 0.56 [{'connected_gene': 'CENPQ', 'score': 6.01}, {'connected_gene': 'RNU7-65P', 'score': 0.77}, {'connected_gene': 'ENSG00000217631', 'score': 0.2}]
chr6 GH06I048824 48824960 48829252 1.4 [{'connected_gene': 'CENPQ', 'score': 6.89}, {'connected_gene': 'PIR62700', 'score': 0.25}, {'connected_gene': 'GC06M048881', 'score': 0.2}]
chr6 GH06I049052 49052411 49054959 0.38 [{'connected_gene': 'CENPQ', 'score': 11.27}, {'connected_gene': 'ENSG00000218337', 'score': 0.34}, {'connected_gene': 'GC06P049024', 'score': 0.29}]
chr6 GH06I049325 49325521 49327694 0.69 [{'connected_gene': 'MUT', 'score': 20.21}, {'connected_gene': 'CENPQ', 'score': 6.0}, {'connected_gene': 'RNU7-65P', 'score': 0.37}, {'connected_gene': 'ENSG00000217631', 'score': 0.23}]
chr6 GH06I049461 49461880 49464401 2.08 [{'connected_gene': 'MUT', 'score': 589.43}, {'connected_gene': 'CENPQ', 'score': 550.77}, {'connected_gene': 'GC06P049407', 'score': 0.22}]
chr6 GH06I049523 49523003 49524274 0.94 [{'connected_gene': 'MUT', 'score': 15.98}, {'connected_gene': 'GLYATL3', 'score': 11.92}, {'connected_gene': 'LOC101927020', 'score': 10.07}, {'connected_gene': 'LOC101927048', 'score': 10.06}, {'connected_gene': 'CENPQ', 'score': 6.3}, {'connected_gene': 'GC06P049517', 'score': 0.44}, {'connected_gene': 'GC06M049537', 'score': 0.39}]
chr6 GH06I049532 49532028 49532599 1.07 [{'connected_gene': 'GLYATL3', 'score': 11.97}, {'connected_gene': 'CENPQ', 'score': 7.46}, {'connected_gene': 'GC06M049537', 'score': 0.77}, {'connected_gene': 'GC06P049517', 'score': 0.39}]
chr6 GH06I049479 49479419 49480203 0.38 [{'connected_gene': 'GLYATL3', 'score': 10.9}, {'connected_gene': 'CENPQ', 'score': 0.37}]
chr6 GH06I049499 49499890 49499949 0.5 [{'connected_gene': 'GLYATL3', 'score': 550.77}, {'connected_gene': 'CENPQ', 'score': 0.28}]
chr6 GH06I049528 49528054 49529307 0.38 [{'connected_gene': 'GLYATL3', 'score': 11.89}, {'connected_gene': 'LOC101927020', 'score': 10.06}, {'connected_gene': 'LOC101927048', 'score': 10.06}, {'connected_gene': 'CENPQ', 'score': 4.51}, {'connected_gene': 'GC06M049537', 'score': 0.44}, {'connected_gene': 'GC06P049517', 'score': 0.39}]
chr6 GH06I049569 49569911 49571127 0.6 [{'connected_gene': 'C6orf141', 'score': 17.31}, {'connected_gene': 'CENPQ', 'score': 6.82}, {'connected_gene': 'LOC101927020', 'score': 4.87}, {'connected_gene': 'CYP2AC1P', 'score': 0.44}]
chr6 GH06I049564 49564886 49567269 0.88 [{'connected_gene': 'C6orf141', 'score': 11.17}, {'connected_gene': 'CENPQ', 'score': 9.19}, {'connected_gene': 'LOC101927020', 'score': 4.62}, {'connected_gene': 'CYP2AC1P', 'score': 0.39}]
chr6 GH06I049549 49549688 49555452 2.34 [{'connected_gene': 'C6orf141', 'score': 550.77}, {'connected_gene': 'MUT', 'score': 7.65}, {'connected_gene': 'CENPQ', 'score': 6.7}, {'connected_gene': 'CYP2AC1P', 'score': 0.31}]