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
ENST00000254722 [[1665252, 1665407], [1670196, 1670288], [1673145, 1673344], [1674322, 1674478], [1675165, 1675369], [1678351, 1678494], [1679825, 1680036], [1680480, 1680868]] [[1670204, 1670288], [1673145, 1673344], [1674322, 1674478], [1675165, 1675369], [1678351, 1678494], [1679825, 1680036], [1680480, 1680740]]
ENST00000571360 [[1665322, 1665407], [1670196, 1670288], [1673184, 1673344], [1674322, 1674463]] [[1670204, 1670288], [1673184, 1673344], [1674322, 1674463]]
ENST00000571870 [[1665354, 1665407], [1670196, 1670288], [1672965, 1673344], [1674322, 1674478], [1675165, 1675224]] None
ENST00000573770 [[1665361, 1665407], [1670196, 1670288], [1673145, 1673344], [1674127, 1674478], [1675165, 1675266]] [[1670204, 1670288], [1673145, 1673344], [1674127, 1674189]]
ENST00000576406 [[1665361, 1665407], [1673145, 1673344], [1674322, 1674478], [1675165, 1675369], [1678351, 1678494], [1679825, 1679872]] [[1675287, 1675369], [1678351, 1678494], [1679825, 1679872]]
ENST00000571149 [[1665405, 1665567], [1670196, 1670288], [1673145, 1673322]] [[1670204, 1670288], [1673145, 1673322]]
ENST00000570731 [[1666122, 1666177], [1670196, 1670288], [1673145, 1673344], [1674322, 1674435]] [[1670204, 1670288], [1673145, 1673344], [1674322, 1674435]]
ENST00000577053 [[1669567, 1669955], [1670196, 1670288], [1673145, 1673344], [1674322, 1674374]] [[1670204, 1670288], [1673145, 1673344], [1674322, 1674374]]
ENST00000570820 [[1673819, 1674478], [1675165, 1675326]] None
ENST00000572048 [[1675012, 1675369], [1678351, 1678494], [1679825, 1679898]] [[1675287, 1675369], [1678351, 1678494], [1679825, 1679898]]
ENST00000573763 [[1675012, 1675369], [1678356, 1678494], [1679825, 1680036], [1680480, 1680503]] [[1675327, 1675369], [1678356, 1678494], [1679825, 1680036], [1680480, 1680503]]
ENST00000572517 [[1679743, 1680036], [1680480, 1680859]] None
NM_001329904 [[1665218, 1665407], [1673145, 1673344], [1674322, 1674478], [1675165, 1675369], [1678351, 1678494], [1679825, 1680036], [1680480, 1680868]] [[1675287, 1675369], [1678351, 1678494], [1679825, 1680036], [1680480, 1680740]]
NM_002615 [[1665218, 1665407], [1670196, 1670288], [1673145, 1673344], [1674322, 1674478], [1675165, 1675369], [1678351, 1678494], [1679825, 1680036], [1680480, 1680868]] [[1670204, 1670288], [1673145, 1673344], [1674322, 1674478], [1675165, 1675369], [1678351, 1678494], [1679825, 1680036], [1680480, 1680740]]
NM_001329903 [[1666097, 1666177], [1670196, 1670288], [1673145, 1673344], [1674322, 1674478], [1675165, 1675369], [1678351, 1678494], [1679825, 1680036], [1680480, 1680868]] [[1670204, 1670288], [1673145, 1673344], [1674322, 1674478], [1675165, 1675369], [1678351, 1678494], [1679825, 1680036], [1680480, 1680740]]
NM_001329905 [[1674964, 1675369], [1678351, 1678494], [1679825, 1680036], [1680480, 1680868]] [[1675287, 1675369], [1678351, 1678494], [1679825, 1680036], [1680480, 1680740]]
Promoter
Chrom Start End Description
chr17 1665279 1665295 CAGE_peak_2_at_SERPINF1_5end
chr17 1665306 1665317 CAGE_peak_3_at_SERPINF1_5end
chr17 1665345 1665362 CAGE_peak_1_at_SERPINF1_5end
chr17 1673118 1673165 CAGE_peak_4_at_SERPINF1_5end
chr17 1673182 1673207 CAGE_peak_5_at_SERPINF1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I001752 1751807 1751956 0.31 [{'connected_gene': 'MIR22HG', 'score': 7.06}, {'connected_gene': 'SERPINF2', 'score': 0.44}, {'connected_gene': 'SERPINF1', 'score': 0.39}]
chr17 GH17I001746 1746788 1747796 0.85 [{'connected_gene': 'SERPINF2', 'score': 19.29}, {'connected_gene': 'TLCD2', 'score': 8.34}, {'connected_gene': 'SERPINF1', 'score': 0.39}]
chr17 GH17I001744 1744565 1745044 0.2 [{'connected_gene': 'SERPINF2', 'score': 578.71}, {'connected_gene': 'SERPINF1', 'score': 0.37}]
chr17 GH17I001767 1767587 1767736 0.51 [{'connected_gene': 'SERPINF2', 'score': 12.9}, {'connected_gene': 'SERPINF1', 'score': 0.44}, {'connected_gene': 'PIR54968', 'score': 0.39}]
chr17 GH17I001751 1751987 1753400 1.05 [{'connected_gene': 'SERPINF2', 'score': 18.2}, {'connected_gene': 'GEMIN4', 'score': 16.76}, {'connected_gene': 'PRPF8', 'score': 13.94}, {'connected_gene': 'MNT', 'score': 11.59}, {'connected_gene': 'WDR81', 'score': 11.45}, {'connected_gene': 'RN7SL608P', 'score': 10.64}, {'connected_gene': 'SMYD4', 'score': 10.64}, {'connected_gene': 'ENSG00000262228', 'score': 9.88}, {'connected_gene': 'MIR22HG', 'score': 6.7}, {'connected_gene': 'SERPINF1', 'score': 0.44}]
chr17 GH17I001773 1773001 1774317 0.86 [{'connected_gene': 'SERPINF2', 'score': 12.37}, {'connected_gene': 'WDR81', 'score': 11.58}, {'connected_gene': 'MIR22HG', 'score': 11.58}, {'connected_gene': 'MIR22', 'score': 11.58}, {'connected_gene': 'SMYD4', 'score': 11.58}, {'connected_gene': 'RPA1', 'score': 11.58}, {'connected_gene': 'SERPINF1', 'score': 5.88}, {'connected_gene': 'PIR54968', 'score': 0.77}]
chr17 GH17I001765 1765457 1766400 0.86 [{'connected_gene': 'SERPINF1', 'score': 16.63}, {'connected_gene': 'SERPINF2', 'score': 12.84}, {'connected_gene': 'PIR54968', 'score': 0.39}]
chr17 GH17I001761 1761608 1765036 2.19 [{'connected_gene': 'SERPINF1', 'score': 577.88}, {'connected_gene': 'SMYD4', 'score': 19.5}, {'connected_gene': 'SERPINF2', 'score': 12.84}, {'connected_gene': 'RPA1', 'score': 11.45}, {'connected_gene': 'WDR81', 'score': 7.57}, {'connected_gene': 'RTN4RL1', 'score': 1.92}, {'connected_gene': 'SLC43A2', 'score': 1.69}, {'connected_gene': 'PITPNA', 'score': 1.27}, {'connected_gene': 'PIR54968', 'score': 0.37}]
chr17 GH17I001769 1769435 1772000 1.3 [{'connected_gene': 'SERPINF1', 'score': 17.04}, {'connected_gene': 'SMYD4', 'score': 16.69}, {'connected_gene': 'SERPINF2', 'score': 12.87}, {'connected_gene': 'PIR54968', 'score': 0.44}]
chr17 GH17I001766 1766427 1767200 1 [{'connected_gene': 'SERPINF1', 'score': 17.85}, {'connected_gene': 'PRPF8', 'score': 15.99}, {'connected_gene': 'RN7SL608P', 'score': 15.77}, {'connected_gene': 'WDR81', 'score': 14.16}, {'connected_gene': 'SERPINF2', 'score': 12.9}, {'connected_gene': 'SMYD4', 'score': 12.83}, {'connected_gene': 'TLCD2', 'score': 12.41}, {'connected_gene': 'ENSG00000263050', 'score': 11.64}, {'connected_gene': 'DPH1', 'score': 11.47}, {'connected_gene': 'PIR54968', 'score': 0.39}]
chr17 GH17I001321 1321681 1322648 0.91 [{'connected_gene': 'CRK', 'score': 5.99}, {'connected_gene': 'SERPINF1', 'score': 4.88}, {'connected_gene': 'GC17M001298', 'score': 0.44}, {'connected_gene': 'GC17P001337', 'score': 0.39}]
chr17 GH17I001712 1712254 1719294 2.63 [{'connected_gene': 'WDR81', 'score': 568.13}, {'connected_gene': 'MIR22', 'score': 550.77}, {'connected_gene': 'MIR22HG', 'score': 550.77}, {'connected_gene': 'GC17M001715', 'score': 550.77}, {'connected_gene': 'SMYD4', 'score': 57.6}, {'connected_gene': 'PRPF8', 'score': 50.04}, {'connected_gene': 'GEMIN4', 'score': 40.69}, {'connected_gene': 'RPA1', 'score': 36.37}, {'connected_gene': 'SERPINF2', 'score': 32.54}, {'connected_gene': 'METTL16', 'score': 23.67}, {'connected_gene': 'TSR1', 'score': 15.35}, {'connected_gene': 'TLCD2', 'score': 13.07}, {'connected_gene': 'MNT', 'score': 11.58}, {'connected_gene': 'SMG6', 'score': 11.26}, {'connected_gene': 'DPH1', 'score': 10.69}, {'connected_gene': 'RN7SL608P', 'score': 10.64}, {'connected_gene': 'ENSG00000262434', 'score': 10.6}, {'connected_gene': 'ENSG00000263345', 'score': 10.28}, {'connected_gene': 'ENSG00000262228', 'score': 9.88}, {'connected_gene': 'SERPINF1', 'score': 5.94}, {'connected_gene': 'SLC43A2', 'score': 3.41}, {'connected_gene': 'PITPNA', 'score': 3.36}, {'connected_gene': 'SCARF1', 'score': 2.33}, {'connected_gene': 'OVCA2', 'score': 2.15}]
chr17 GH17I001785 1785668 1789099 1.14 [{'connected_gene': 'SMYD4', 'score': 28.11}, {'connected_gene': 'SERPINF1', 'score': 16.56}, {'connected_gene': 'SERPINF2', 'score': 12.04}, {'connected_gene': 'RPA1', 'score': 11.83}, {'connected_gene': 'MIR22', 'score': 11.74}, {'connected_gene': 'WDR81', 'score': 11.74}, {'connected_gene': 'MIR22HG', 'score': 11.74}, {'connected_gene': 'TLCD2', 'score': 11.67}, {'connected_gene': 'PIR53033', 'score': 0.44}]
chr17 GH17I001782 1781802 1784861 1.2 [{'connected_gene': 'SMYD4', 'score': 27.77}, {'connected_gene': 'SERPINF1', 'score': 15.24}, {'connected_gene': 'SERPINF2', 'score': 12.67}, {'connected_gene': 'RPA1', 'score': 11.81}, {'connected_gene': 'MIR22', 'score': 11.75}, {'connected_gene': 'WDR81', 'score': 11.75}, {'connected_gene': 'MIR22HG', 'score': 11.75}, {'connected_gene': 'TLCD2', 'score': 11.68}, {'connected_gene': 'PIR53033', 'score': 0.77}]
chr17 GH17I001792 1792348 1793890 0.96 [{'connected_gene': 'SMYD4', 'score': 8.08}, {'connected_gene': 'RPA1', 'score': 7.66}, {'connected_gene': 'MIR22HG', 'score': 6.2}, {'connected_gene': 'SERPINF1', 'score': 5.29}, {'connected_gene': 'PIR53033', 'score': 0.39}]
chr17 GH17I001774 1774528 1775238 0.31 [{'connected_gene': 'SMYD4', 'score': 26.38}, {'connected_gene': 'WDR81', 'score': 16.96}, {'connected_gene': 'SERPINF2', 'score': 11.98}, {'connected_gene': 'MIR22HG', 'score': 11.52}, {'connected_gene': 'MIR22', 'score': 11.5}, {'connected_gene': 'RPA1', 'score': 11.18}, {'connected_gene': 'PIR54968', 'score': 0.77}, {'connected_gene': 'SERPINF1', 'score': 0.39}]
chr17 GH17I001890 1890618 1891731 0.31 [{'connected_gene': 'GC17P001889', 'score': 550.77}, {'connected_gene': 'DPH1', 'score': 11.5}, {'connected_gene': 'SMYD4', 'score': 11.16}, {'connected_gene': 'RPA1', 'score': 11.16}, {'connected_gene': 'TLCD2', 'score': 11.0}, {'connected_gene': 'RTN4RL1', 'score': 5.33}, {'connected_gene': 'SERPINF1', 'score': 4.95}, {'connected_gene': 'GC17P001897', 'score': 0.44}, {'connected_gene': 'GC17P001886', 'score': 0.44}, {'connected_gene': 'GC17P001899', 'score': 0.44}]
chr17 GH17I002040 2040952 2044985 2.07 [{'connected_gene': 'ENSG00000262533', 'score': 550.77}, {'connected_gene': 'ENSG00000263050', 'score': 550.77}, {'connected_gene': 'OVCA2', 'score': 550.77}, {'connected_gene': 'DPH1', 'score': 16.94}, {'connected_gene': 'PRPF8', 'score': 13.79}, {'connected_gene': 'MNT', 'score': 11.61}, {'connected_gene': 'WDR81', 'score': 11.23}, {'connected_gene': 'RN7SL608P', 'score': 10.65}, {'connected_gene': 'SMYD4', 'score': 10.53}, {'connected_gene': 'MYO1C', 'score': 9.67}, {'connected_gene': 'SRR', 'score': 4.82}, {'connected_gene': 'SGSM2', 'score': 4.71}, {'connected_gene': 'SERPINF1', 'score': 4.67}, {'connected_gene': 'GC17M002005', 'score': 0.1}]
chr17 GH17I001781 1781191 1781552 0.2 [{'connected_gene': 'PIR53033', 'score': 550.77}, {'connected_gene': 'SMYD4', 'score': 27.54}, {'connected_gene': 'SERPINF2', 'score': 12.35}, {'connected_gene': 'TLCD2', 'score': 11.78}, {'connected_gene': 'RPA1', 'score': 11.59}, {'connected_gene': 'WDR81', 'score': 11.58}, {'connected_gene': 'MIR22HG', 'score': 11.58}, {'connected_gene': 'MIR22', 'score': 11.57}, {'connected_gene': 'SERPINF1', 'score': 5.9}]
chr17 GH17I001778 1778534 1780820 0.99 [{'connected_gene': 'PIR53033', 'score': 550.77}, {'connected_gene': 'PIR54968', 'score': 550.77}, {'connected_gene': 'SMYD4', 'score': 27.47}, {'connected_gene': 'SERPINF2', 'score': 12.35}, {'connected_gene': 'TLCD2', 'score': 11.79}, {'connected_gene': 'WDR81', 'score': 11.58}, {'connected_gene': 'MIR22HG', 'score': 11.58}, {'connected_gene': 'MIR22', 'score': 11.57}, {'connected_gene': 'RPA1', 'score': 11.57}, {'connected_gene': 'SERPINF1', 'score': 5.85}]
chr17 GH17I001777 1777007 1777156 0.91 [{'connected_gene': 'PIR54968', 'score': 550.77}, {'connected_gene': 'SMYD4', 'score': 37.49}, {'connected_gene': 'WDR81', 'score': 27.14}, {'connected_gene': 'RPA1', 'score': 22.08}, {'connected_gene': 'PRPF8', 'score': 16.54}, {'connected_gene': 'RN7SL608P', 'score': 13.33}, {'connected_gene': 'SERPINF2', 'score': 11.98}, {'connected_gene': 'MIR22HG', 'score': 11.52}, {'connected_gene': 'MIR22', 'score': 11.5}, {'connected_gene': 'METTL16', 'score': 10.17}, {'connected_gene': 'SERPINF1', 'score': 0.37}]

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