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
ENST00000322191 [[91342744, 91344222], [91348408, 91348534], [91352953, 91353077], [91359008, 91359262], [91371452, 91371805], [91403453, 91403631]] [[91344162, 91344222], [91348408, 91348534], [91352953, 91353077], [91359008, 91359262], [91371452, 91371805], [91403453, 91403481]]
ENST00000342512 [[91342744, 91344222], [91348408, 91348534], [91352953, 91353077], [91353569, 91353746], [91359008, 91359262], [91371452, 91371805], [91403453, 91403644]] [[91344162, 91344222], [91348408, 91348534], [91352953, 91353077], [91353569, 91353746], [91359008, 91359262], [91371452, 91371805], [91403453, 91403481]]
ENST00000371774 [[91342745, 91344222], [91348408, 91348534], [91352953, 91353077], [91353569, 91353746], [91359008, 91359262], [91371452, 91371805], [91398905, 91398999], [91403453, 91403648]] [[91344162, 91344222], [91348408, 91348534], [91352953, 91353077], [91353569, 91353746], [91359008, 91359262], [91371452, 91371805], [91398905, 91398999], [91403453, 91403468]]
ENST00000307534 [[91342748, 91344222], [91348408, 91348534], [91352953, 91353077], [91353569, 91353746], [91359008, 91359262], [91371452, 91371805], [91404356, 91405215]] [[91344162, 91344222], [91348408, 91348534], [91352953, 91353077], [91353569, 91353746], [91359008, 91359262], [91371452, 91371805], [91404356, 91405059]]
ENST00000461829 [[91358918, 91359262], [91371452, 91371665]] None
ENST00000488482 [[91385451, 91385610], [91385949, 91386006], [91386293, 91386389], [91403453, 91403713]] None
NM_148978 [[91339253, 91344222], [91348408, 91348534], [91352953, 91353077], [91353569, 91353746], [91359008, 91359262], [91371452, 91371805], [91403453, 91403648]] [[91344162, 91344222], [91348408, 91348534], [91352953, 91353077], [91353569, 91353746], [91359008, 91359262], [91371452, 91371805], [91403453, 91403481]]
NM_138316 [[91339253, 91344222], [91348408, 91348534], [91352953, 91353077], [91359008, 91359262], [91371452, 91371805], [91403453, 91403648]] [[91344162, 91344222], [91348408, 91348534], [91352953, 91353077], [91359008, 91359262], [91371452, 91371805], [91403453, 91403481]]
NM_148977 [[91339253, 91344222], [91348408, 91348534], [91352953, 91353077], [91353569, 91353746], [91359008, 91359262], [91371452, 91371805], [91404356, 91405329]] [[91344162, 91344222], [91348408, 91348534], [91352953, 91353077], [91353569, 91353746], [91359008, 91359262], [91371452, 91371805], [91404356, 91405059]]
Promoter
Chrom Start End Description
chr10 91403575 91403590 CAGE_peak_3_at_PANK1_5end
chr10 91403625 91403649 CAGE_peak_4_at_PANK1_5end
chr10 91403656 91403688 CAGE_peak_2_at_PANK1_5end
chr10 91404961 91405020 CAGE_peak_1_at_PANK1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I089700 89700428 89703701 2.09 [{'connected_gene': 'KIF20B', 'score': 571.75}, {'connected_gene': 'ENSG00000235100', 'score': 23.05}, {'connected_gene': 'LINC00865', 'score': 18.81}, {'connected_gene': 'ENSG00000240996', 'score': 10.65}, {'connected_gene': 'PANK1', 'score': 5.51}, {'connected_gene': 'GC10P089733', 'score': 0.29}]
chr10 GH10I089707 89707601 89708000 0.62 [{'connected_gene': 'KIF20B', 'score': 14.46}, {'connected_gene': 'ENSG00000235100', 'score': 12.09}, {'connected_gene': 'PANK1', 'score': 5.5}, {'connected_gene': 'GC10P089733', 'score': 0.31}]
chr10 GH10I089658 89658844 89659963 0.57 [{'connected_gene': 'LINC00865', 'score': 19.7}, {'connected_gene': 'ENSG00000240996', 'score': 17.0}, {'connected_gene': 'KIF20B', 'score': 11.34}, {'connected_gene': 'SLC16A12-AS1', 'score': 8.97}, {'connected_gene': 'PANK1', 'score': 5.68}, {'connected_gene': 'ENSG00000235100', 'score': 5.28}, {'connected_gene': 'ENSG00000225836', 'score': 0.44}, {'connected_gene': 'GC10M089668', 'score': 0.39}]
chr10 GH10I089655 89655110 89656300 0.65 [{'connected_gene': 'LINC00865', 'score': 18.03}, {'connected_gene': 'PANK1', 'score': 8.2}, {'connected_gene': 'ENSG00000225836', 'score': 0.77}, {'connected_gene': 'GC10M089668', 'score': 0.37}]
chr10 GH10I089667 89667845 89669543 0.46 [{'connected_gene': 'LINC00865', 'score': 17.42}, {'connected_gene': 'PANK1', 'score': 15.18}, {'connected_gene': 'ENSG00000235100', 'score': 8.21}, {'connected_gene': 'GC10M089668', 'score': 0.44}, {'connected_gene': 'ENSG00000225836', 'score': 0.37}]
chr10 GH10I089641 89641864 89647579 2.28 [{'connected_gene': 'PANK1', 'score': 556.8}, {'connected_gene': 'ENSG00000249962', 'score': 550.77}, {'connected_gene': 'LOC105378421', 'score': 550.77}, {'connected_gene': 'KIF20B', 'score': 32.44}, {'connected_gene': 'ENSG00000235100', 'score': 30.5}, {'connected_gene': 'LINC00865', 'score': 18.76}, {'connected_gene': 'ENSG00000240996', 'score': 16.6}, {'connected_gene': 'ENSG00000225836', 'score': 0.44}, {'connected_gene': 'GC10M089601', 'score': 0.23}]
chr10 GH10I089637 89637264 89637413 0.38 [{'connected_gene': 'MIR107', 'score': 10.79}, {'connected_gene': 'KIF20B', 'score': 10.77}, {'connected_gene': 'ENSG00000235100', 'score': 10.74}, {'connected_gene': 'SLC16A12-AS1', 'score': 9.96}, {'connected_gene': 'ENSG00000249962', 'score': 0.44}, {'connected_gene': 'PANK1', 'score': 0.44}, {'connected_gene': 'GC10M089601', 'score': 0.26}]
chr10 GH10I089589 89589184 89589218 0.2 [{'connected_gene': 'SLC16A12-AS1', 'score': 9.68}, {'connected_gene': 'PANK1', 'score': 4.57}, {'connected_gene': 'MIR107', 'score': 0.77}, {'connected_gene': 'GC10M089602', 'score': 0.77}, {'connected_gene': 'GC10M089559', 'score': 0.39}]
chr10 GH10I089609 89609530 89610625 0.69 [{'connected_gene': 'ENSG00000240996', 'score': 10.11}, {'connected_gene': 'KIF20B', 'score': 10.1}, {'connected_gene': 'GC10M089601', 'score': 0.37}, {'connected_gene': 'ENSG00000249962', 'score': 0.28}, {'connected_gene': 'PANK1', 'score': 0.28}]
chr10 GH10I089793 89793744 89793933 0.62 [{'connected_gene': 'PIR43117', 'score': 550.77}, {'connected_gene': 'GC10M089794', 'score': 550.77}, {'connected_gene': 'LINC00865', 'score': 17.47}, {'connected_gene': 'ENSG00000240996', 'score': 5.68}, {'connected_gene': 'PANK1', 'score': 5.4}, {'connected_gene': 'PIR33661', 'score': 0.44}]
chr10 GH10I089620 89620464 89620613 0.52 [{'connected_gene': 'ENSG00000235100', 'score': 16.3}, {'connected_gene': 'ENSG00000240996', 'score': 10.06}, {'connected_gene': 'ENSG00000249962', 'score': 0.34}, {'connected_gene': 'GC10M089601', 'score': 0.31}, {'connected_gene': 'PANK1', 'score': 0.31}]
chr10 GH10I089632 89632672 89634171 0.78 [{'connected_gene': 'ENSG00000235100', 'score': 8.4}, {'connected_gene': 'ENSG00000240996', 'score': 5.8}, {'connected_gene': 'ENSG00000249962', 'score': 0.39}, {'connected_gene': 'PANK1', 'score': 0.39}, {'connected_gene': 'GC10M089601', 'score': 0.26}]
chr10 GH10I089590 89590474 89593215 0.91 [{'connected_gene': 'GC10M089601', 'score': 550.77}, {'connected_gene': 'MIR107', 'score': 550.77}, {'connected_gene': 'GC10M089602', 'score': 550.77}, {'connected_gene': 'PANK1', 'score': 5.08}, {'connected_gene': 'GC10M089559', 'score': 0.37}]
chr10 GH10I089699 89699544 89699693 0.89 [{'connected_gene': 'ENSG00000240996', 'score': 550.77}, {'connected_gene': 'FLJ37201', 'score': 550.77}, {'connected_gene': 'ENSG00000235100', 'score': 550.77}, {'connected_gene': 'KIF20B', 'score': 550.77}, {'connected_gene': 'LINC00865', 'score': 25.8}, {'connected_gene': 'PANK1', 'score': 5.52}]
chr10 GH10I089836 89836651 89838600 0.58 [{'connected_gene': 'PIR39292', 'score': 550.77}, {'connected_gene': 'GC10P089962', 'score': 550.77}, {'connected_gene': 'PIR32405', 'score': 550.77}, {'connected_gene': 'GC10P089960', 'score': 550.77}, {'connected_gene': 'GC10P089957', 'score': 550.77}, {'connected_gene': 'GC10P089956', 'score': 550.77}, {'connected_gene': 'PIR58202', 'score': 550.77}, {'connected_gene': 'GC10P089961', 'score': 550.77}, {'connected_gene': 'PIR50314', 'score': 550.77}, {'connected_gene': 'GC10P089964', 'score': 550.77}, {'connected_gene': 'GC10P089958', 'score': 550.77}, {'connected_gene': 'PIR46943', 'score': 550.77}, {'connected_gene': 'GC10P089963', 'score': 550.77}, {'connected_gene': 'PIR62889', 'score': 550.77}, {'connected_gene': 'MARK2P16', 'score': 550.77}, {'connected_gene': 'PIR58664', 'score': 550.77}, {'connected_gene': 'PIR40019', 'score': 550.77}, {'connected_gene': 'PIR56115', 'score': 550.77}, {'connected_gene': 'PIR38102', 'score': 550.77}, {'connected_gene': 'PIR49207', 'score': 550.77}, {'connected_gene': 'PIR50043', 'score': 550.77}, {'connected_gene': 'GC10P089959', 'score': 550.77}, {'connected_gene': 'LINC00865', 'score': 56.97}, {'connected_gene': 'PANK1', 'score': 5.17}, {'connected_gene': 'GC10M089832', 'score': 0.44}, {'connected_gene': 'PIR58338', 'score': 0.44}]