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
ENST00000268668 [[2009508, 2009755], [2011153, 2011292], [2011497, 2011637], [2011797, 2011976]] [[2009625, 2009755], [2011153, 2011292], [2011497, 2011637], [2011797, 2011907]]
ENST00000543683 [[2009543, 2009755], [2011153, 2011292], [2011497, 2011976]] [[2009625, 2009755], [2011153, 2011292], [2011497, 2011735]]
ENST00000565031 [[2009544, 2009755], [2011153, 2011900]] None
ENST00000569148 [[2009552, 2009755], [2011153, 2011259], [2011497, 2011637], [2011797, 2011976]] [[2009625, 2009755], [2011153, 2011259], [2011497, 2011637], [2011797, 2011907]]
ENST00000570172 [[2009558, 2009755], [2011153, 2011292], [2011497, 2011612], [2011797, 2011841]] [[2009625, 2009755], [2011153, 2011292], [2011497, 2011612], [2011797, 2011841]]
NM_004548 [[2009516, 2009755], [2011153, 2011292], [2011497, 2011637], [2011797, 2011976]] [[2009625, 2009755], [2011153, 2011292], [2011497, 2011637], [2011797, 2011907]]
Promoter
Chrom Start End Description
chr16 2009500 2009584 CAGE_peak_1_at_NDUFB10_5end
chr16 2009598 2009610 CAGE_peak_2_at_NDUFB10_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I001900 1900240 1900409 0.62 [{'connected_gene': 'FAHD1', 'score': 33.47}, {'connected_gene': 'HS3ST6', 'score': 12.58}, {'connected_gene': 'MSRB1', 'score': 11.69}, {'connected_gene': 'RPL3L', 'score': 11.65}, {'connected_gene': 'NDUFB10', 'score': 11.65}, {'connected_gene': 'GC16P001892', 'score': 0.44}, {'connected_gene': 'PIR49138', 'score': 0.44}]
chr16 GH16I001901 1900480 1900629 0.52 [{'connected_gene': 'FAHD1', 'score': 31.59}, {'connected_gene': 'HS3ST6', 'score': 12.58}, {'connected_gene': 'MSRB1', 'score': 11.69}, {'connected_gene': 'RPL3L', 'score': 11.65}, {'connected_gene': 'NDUFB10', 'score': 11.65}, {'connected_gene': 'GC16P001892', 'score': 0.44}, {'connected_gene': 'PIR49138', 'score': 0.44}]
chr16 GH16I001863 1863820 1863969 0.62 [{'connected_gene': 'HS3ST6', 'score': 12.47}, {'connected_gene': 'MEIOB', 'score': 12.45}, {'connected_gene': 'MSRB1', 'score': 12.2}, {'connected_gene': 'RPL3L', 'score': 12.18}, {'connected_gene': 'NDUFB10', 'score': 12.17}, {'connected_gene': 'SYNGR3', 'score': 10.5}, {'connected_gene': 'LOC102723890', 'score': 0.44}, {'connected_gene': 'GC16M001851', 'score': 0.44}]
chr16 GH16I001958 1958839 1962037 2.07 [{'connected_gene': 'NDUFB10', 'score': 550.77}, {'connected_gene': 'ENSG00000255513', 'score': 55.62}, {'connected_gene': 'SNHG9', 'score': 46.26}, {'connected_gene': 'ENSG00000261505', 'score': 24.58}, {'connected_gene': 'RPL3L', 'score': 24.16}, {'connected_gene': 'CRAMP1', 'score': 22.94}, {'connected_gene': 'SRRM2', 'score': 21.64}, {'connected_gene': 'ENSG00000260051', 'score': 20.7}, {'connected_gene': 'TELO2', 'score': 19.18}, {'connected_gene': 'TSC2', 'score': 16.59}, {'connected_gene': 'E4F1', 'score': 16.5}, {'connected_gene': 'NUBP2', 'score': 16.3}, {'connected_gene': 'UNKL', 'score': 14.63}, {'connected_gene': 'ERVK13-1', 'score': 14.35}, {'connected_gene': 'IFT140', 'score': 13.64}, {'connected_gene': 'LOC105371055', 'score': 12.95}, {'connected_gene': 'ENSG00000260646', 'score': 12.28}, {'connected_gene': 'UBE2I', 'score': 11.86}, {'connected_gene': 'SPSB3', 'score': 11.58}, {'connected_gene': 'ENSG00000260954', 'score': 11.5}, {'connected_gene': 'ENSG00000261123', 'score': 11.02}, {'connected_gene': 'SNORA64', 'score': 10.73}, {'connected_gene': 'SNHG19', 'score': 10.72}, {'connected_gene': 'NME3', 'score': 10.71}, {'connected_gene': 'TRAF7', 'score': 10.61}, {'connected_gene': 'TBL3', 'score': 10.6}, {'connected_gene': 'LOC105371049', 'score': 10.59}, {'connected_gene': 'ZNF598', 'score': 10.3}, {'connected_gene': 'ENSG00000269937', 'score': 10.01}, {'connected_gene': 'AMDHD2', 'score': 9.77}, {'connected_gene': 'ENSG00000260447', 'score': 9.76}, {'connected_gene': 'GC16M001963', 'score': 0.77}, {'connected_gene': 'GC16M001965', 'score': 0.77}, {'connected_gene': 'SNORA10', 'score': 0.77}]
chr16 GH16I001895 1895872 1896344 0.43 [{'connected_gene': 'PIR49138', 'score': 550.77}, {'connected_gene': 'GC16M001894', 'score': 550.77}, {'connected_gene': 'FAHD1', 'score': 42.65}, {'connected_gene': 'HS3ST6', 'score': 12.55}, {'connected_gene': 'MSRB1', 'score': 12.32}, {'connected_gene': 'RPL3L', 'score': 12.28}, {'connected_gene': 'NDUFB10', 'score': 12.28}, {'connected_gene': 'IGFALS', 'score': 11.28}, {'connected_gene': 'HAGH', 'score': 11.21}, {'connected_gene': 'GC16P001892', 'score': 0.77}]
chr16 GH16I001855 1855330 1856102 0.2 [{'connected_gene': 'GC16M001851', 'score': 550.77}, {'connected_gene': 'FAHD1', 'score': 61.17}, {'connected_gene': 'HAGH', 'score': 34.0}, {'connected_gene': 'HS3ST6', 'score': 12.14}, {'connected_gene': 'MEIOB', 'score': 12.08}, {'connected_gene': 'IGFALS', 'score': 11.96}, {'connected_gene': 'MSRB1', 'score': 11.86}, {'connected_gene': 'RPL3L', 'score': 11.84}, {'connected_gene': 'NDUFB10', 'score': 11.84}, {'connected_gene': 'ENSG00000260541', 'score': 0.39}]