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
ENST00000248076 [[16999670, 17000109], [17000383, 17003417]] [[17000000, 17000109], [17000383, 17001432]]
ENST00000599210 [[17000000, 17000109], [17000387, 17000891]] [[17000000, 17000109], [17000387, 17000620]]
NM_003950 [[16999670, 17000109], [17000383, 17003411]] [[17000000, 17000109], [17000383, 17001432]]
Promoter
Chrom Start End Description
chr19 16999654 16999673 CAGE_peak_3_at_F2RL3_5end
chr19 16999766 16999777 CAGE_peak_4_at_F2RL3_5end
chr19 16999802 16999844 CAGE_peak_1_at_F2RL3_5end
chr19 16999876 16999884 CAGE_peak_8_at_F2RL3_5end
chr19 16999886 16999899 CAGE_peak_6_at_F2RL3_5end
chr19 16999902 16999936 CAGE_peak_2_at_F2RL3_5end
chr19 16999966 16999976 CAGE_peak_7_at_F2RL3_5end
chr19 17000058 17000065 CAGE_peak_10_at_F2RL3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I016885 16885564 16890966 1.91 [{'connected_gene': 'F2RL3', 'score': 550.77}, {'connected_gene': 'SIN3B', 'score': 15.76}, {'connected_gene': 'CHERP', 'score': 14.46}, {'connected_gene': 'ENSG00000267904', 'score': 12.35}, {'connected_gene': 'ENSG00000268743', 'score': 12.3}, {'connected_gene': 'C19orf44', 'score': 12.05}, {'connected_gene': 'ENSG00000269578', 'score': 11.98}, {'connected_gene': 'GTPBP3', 'score': 11.37}, {'connected_gene': 'ENSG00000268087', 'score': 11.15}, {'connected_gene': 'SMIM7', 'score': 10.35}, {'connected_gene': 'CPAMD8', 'score': 6.17}, {'connected_gene': 'GC19M016856', 'score': 0.39}]
chr19 GH19I017762 17762179 17763241 1.2 [{'connected_gene': 'MAP1S', 'score': 12.46}, {'connected_gene': 'B3GNT3', 'score': 12.42}, {'connected_gene': 'INSL3', 'score': 11.78}, {'connected_gene': 'PLVAP', 'score': 11.59}, {'connected_gene': 'NXNL1', 'score': 11.53}, {'connected_gene': 'F2RL3', 'score': 11.06}, {'connected_gene': 'GC19M017755', 'score': 0.77}, {'connected_gene': 'GC19P020271', 'score': 0.44}, {'connected_gene': 'FCHO1', 'score': 0.39}]
chr19 GH19I017264 17264001 17269054 2.05 [{'connected_gene': 'BABAM1', 'score': 561.23}, {'connected_gene': 'ENSG00000269307', 'score': 550.77}, {'connected_gene': 'USHBP1', 'score': 550.37}, {'connected_gene': 'CHERP', 'score': 13.08}, {'connected_gene': 'ABHD8', 'score': 12.06}, {'connected_gene': 'PLVAP', 'score': 11.67}, {'connected_gene': 'F2RL3', 'score': 11.09}, {'connected_gene': 'OCEL1', 'score': 10.37}, {'connected_gene': 'GTPBP3', 'score': 8.77}, {'connected_gene': 'ENSG00000269427', 'score': 5.32}, {'connected_gene': 'ANKLE1', 'score': 4.86}, {'connected_gene': 'ENSG00000269095', 'score': 0.39}]
chr19 GH19I016893 16893320 16894612 0.86 [{'connected_gene': 'CPAMD8', 'score': 5.67}, {'connected_gene': 'F2RL3', 'score': 0.44}, {'connected_gene': 'RN7SL835P', 'score': 0.39}]
chr19 GH19I016899 16899730 16899899 0.68 [{'connected_gene': 'CPAMD8', 'score': 4.53}, {'connected_gene': 'RN7SL835P', 'score': 0.44}, {'connected_gene': 'F2RL3', 'score': 0.39}]
chr19 GH19I016863 16863201 16863600 0.88 [{'connected_gene': 'SIN3B', 'score': 562.83}, {'connected_gene': 'F2RL3', 'score': 12.21}, {'connected_gene': 'GC19M016869', 'score': 0.44}, {'connected_gene': 'GC19M016856', 'score': 0.39}, {'connected_gene': 'ENSG00000268743', 'score': 0.37}]
chr19 GH19I016892 16892187 16893221 0.83 [{'connected_gene': 'SIN3B', 'score': 6.09}, {'connected_gene': 'CPAMD8', 'score': 5.62}, {'connected_gene': 'F2RL3', 'score': 0.77}, {'connected_gene': 'RN7SL835P', 'score': 0.39}]
chr19 GH19I017487 17487729 17491289 1.25 [{'connected_gene': 'LOC100507551', 'score': 16.74}, {'connected_gene': 'SLC27A1', 'score': 8.64}, {'connected_gene': 'F2RL3', 'score': 5.09}, {'connected_gene': 'PIR43275', 'score': 0.37}]
chr19 GH19I016896 16896000 16898201 1.67 [{'connected_gene': 'ENSG00000269578', 'score': 20.73}, {'connected_gene': 'MED26', 'score': 14.26}, {'connected_gene': 'CHERP', 'score': 12.74}, {'connected_gene': 'COLGALT1', 'score': 12.36}, {'connected_gene': 'SMIM7', 'score': 12.06}, {'connected_gene': 'HAUS8', 'score': 11.83}, {'connected_gene': 'TPM4', 'score': 10.74}, {'connected_gene': 'ENSG00000268743', 'score': 10.59}, {'connected_gene': 'ENSG00000269481', 'score': 9.97}, {'connected_gene': 'PGLS', 'score': 9.76}, {'connected_gene': 'CPAMD8', 'score': 5.96}, {'connected_gene': 'SIN3B', 'score': 5.83}, {'connected_gene': 'UNC13A', 'score': 5.18}, {'connected_gene': 'F2RL3', 'score': 0.44}, {'connected_gene': 'RN7SL835P', 'score': 0.39}]
chr19 GH19I016877 16877050 16877219 0.72 [{'connected_gene': 'GC19M016856', 'score': 550.77}, {'connected_gene': 'F2RL3', 'score': 0.39}, {'connected_gene': 'SIN3B', 'score': 0.25}]