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
ENST00000537691 [[24540045, 24540237], [24540735, 24540850], [24542141, 24542313], [24542707, 24542887], [24543259, 24543334], [24543499, 24543574], [24543739, 24543823], [24543914, 24544004], [24544380, 24544485], [24544713, 24544800], [24545035, 24545095], [24545357, 24545491], [24545568, 24545623], [24545714, 24545766], [24546087, 24546221], [24546362, 24546599], [24546801, 24546976], [24547096, 24547204]] [[24540191, 24540237], [24540735, 24540850], [24542141, 24542313], [24542707, 24542887], [24543259, 24543334], [24543499, 24543574], [24543739, 24543823], [24543914, 24544004], [24544380, 24544485], [24544713, 24544800], [24545035, 24545095], [24545357, 24545491], [24545568, 24545623], [24545714, 24545766], [24546087, 24546221], [24546362, 24546599], [24546801, 24546939]]
ENST00000397016 [[24540045, 24540237], [24540735, 24540850], [24542141, 24542313], [24542707, 24542887], [24543259, 24543334], [24543499, 24543574], [24543739, 24543823], [24543914, 24544004], [24544380, 24544485], [24544713, 24544800], [24545035, 24545095], [24545357, 24545491], [24545568, 24545623], [24545714, 24545766], [24546087, 24546221], [24546362, 24546599], [24546801, 24546976], [24547096, 24547309]] [[24542145, 24542313], [24542707, 24542887], [24543259, 24543334], [24543499, 24543574], [24543739, 24543823], [24543914, 24544004], [24544380, 24544485], [24544713, 24544800], [24545035, 24545095], [24545357, 24545491], [24545568, 24545623], [24545714, 24545766], [24546087, 24546221], [24546362, 24546599], [24546801, 24546939]]
ENST00000560356 [[24540056, 24540247], [24540735, 24540850], [24542141, 24542313], [24542707, 24542887], [24543259, 24543334]] [[24542145, 24542313], [24542707, 24542887], [24543259, 24543334]]
ENST00000558450 [[24540105, 24540184], [24540735, 24540850], [24542141, 24542313], [24542707, 24542887], [24543259, 24543304]] [[24542145, 24542313], [24542707, 24542887], [24543259, 24543304]]
ENST00000558995 [[24540157, 24540850], [24542141, 24542313], [24542707, 24542887], [24543259, 24543574], [24543739, 24543823], [24543914, 24544004], [24544380, 24544485], [24544713, 24544800], [24545035, 24545095], [24545357, 24545491], [24545568, 24545623], [24545714, 24545766], [24546087, 24546221], [24546362, 24546599], [24546801, 24546976], [24547096, 24547295]] None
ENST00000559778 [[24540225, 24540345], [24540748, 24540850], [24542141, 24542313], [24542707, 24542856]] [[24542145, 24542313], [24542707, 24542856]]
ENST00000560761 [[24540298, 24540345], [24540735, 24540850], [24542097, 24542313], [24542707, 24542887], [24543259, 24543334], [24543499, 24543523]] [[24542145, 24542313], [24542707, 24542887], [24543259, 24543334], [24543499, 24543523]]
ENST00000557889 [[24540395, 24540644], [24540808, 24540850], [24542141, 24542303]] [[24542145, 24542303]]
ENST00000558541 [[24540568, 24540850], [24542141, 24542313], [24542707, 24542887], [24543259, 24543334], [24543499, 24543574], [24543739, 24543823], [24543914, 24544004], [24544380, 24544386]] [[24542145, 24542313], [24542707, 24542887], [24543259, 24543334], [24543499, 24543574], [24543739, 24543823], [24543914, 24544004], [24544380, 24544386]]
ENST00000558859 [[24540730, 24540850], [24542707, 24542887], [24543259, 24543369], [24543499, 24543574], [24543739, 24543823], [24543914, 24543935]] [[24543766, 24543823], [24543914, 24543935]]
ENST00000560092 [[24540733, 24540850], [24542707, 24542887], [24543259, 24543510]] None
ENST00000559197 [[24540740, 24540850], [24542141, 24542328], [24542707, 24542887], [24543259, 24543334], [24543499, 24543520]] [[24542145, 24542328], [24542707, 24542887], [24543259, 24543334], [24543499, 24543520]]
ENST00000560828 [[24540740, 24540850], [24542141, 24542313], [24542707, 24542887], [24543259, 24543334], [24543739, 24543791]] [[24542145, 24542313], [24542707, 24542887], [24543259, 24543334], [24543739, 24543791]]
ENST00000216775 [[24540755, 24540850], [24542141, 24542313], [24542707, 24542887], [24543259, 24543334], [24543499, 24543574], [24543739, 24543823], [24543914, 24544004], [24544380, 24544485], [24544713, 24544800], [24545035, 24545095], [24545357, 24545491], [24545568, 24545623], [24545714, 24545766], [24546087, 24546221], [24546362, 24546599], [24546801, 24546976], [24547096, 24547295]] [[24542145, 24542313], [24542707, 24542887], [24543259, 24543334], [24543499, 24543574], [24543739, 24543823], [24543914, 24544004], [24544380, 24544485], [24544713, 24544800], [24545035, 24545095], [24545357, 24545491], [24545568, 24545623], [24545714, 24545766], [24546087, 24546221], [24546362, 24546599], [24546801, 24546939]]
ENST00000560884 [[24540758, 24540850], [24542141, 24542313], [24542707, 24542887], [24543259, 24543369], [24543499, 24543520]] [[24542145, 24542313], [24542707, 24542887], [24543259, 24543369], [24543499, 24543520]]
ENST00000558795 [[24540770, 24540850], [24542141, 24542313], [24542742, 24542887], [24543259, 24543574], [24543739, 24543823], [24543914, 24544004], [24544380, 24544720]] [[24542145, 24542313], [24542742, 24542772]]
ENST00000559207 [[24540789, 24540850], [24543259, 24543334], [24543499, 24543574], [24543739, 24543823], [24543914, 24544004], [24544380, 24544485], [24544713, 24544793]] [[24543766, 24543823], [24543914, 24544004], [24544380, 24544485], [24544713, 24544793]]
ENST00000460657 [[24540797, 24542313], [24542707, 24542887], [24543259, 24544004], [24544380, 24545095], [24545357, 24545623], [24545714, 24546221], [24546362, 24546599], [24546801, 24546976], [24547096, 24547295]] None
ENST00000557829 [[24544766, 24545890], [24546087, 24546221], [24546362, 24547296]] None
ENST00000560845 [[24545039, 24545095], [24545357, 24545491], [24545568, 24545623], [24545714, 24546049]] None
NM_001280558 [[24540045, 24540237], [24540735, 24540850], [24542141, 24542313], [24542707, 24542887], [24543259, 24543334], [24543499, 24543574], [24543739, 24543823], [24543914, 24544004], [24544380, 24544485], [24544713, 24544800], [24545035, 24545095], [24545357, 24545491], [24545568, 24545623], [24545714, 24545766], [24546087, 24546221], [24546362, 24546599], [24546801, 24546976], [24547096, 24547309]] [[24540191, 24540237], [24540735, 24540850], [24542141, 24542313], [24542707, 24542887], [24543259, 24543334], [24543499, 24543574], [24543739, 24543823], [24543914, 24544004], [24544380, 24544485], [24544713, 24544800], [24545035, 24545095], [24545357, 24545491], [24545568, 24545623], [24545714, 24545766], [24546087, 24546221], [24546362, 24546599], [24546801, 24546939]]
NM_006032 [[24540555, 24540850], [24542141, 24542313], [24542707, 24542887], [24543259, 24543334], [24543499, 24543574], [24543739, 24543823], [24543914, 24544004], [24544380, 24544485], [24544713, 24544800], [24545035, 24545095], [24545357, 24545491], [24545568, 24545623], [24545714, 24545766], [24546087, 24546221], [24546362, 24546599], [24546801, 24546976], [24547096, 24547309]] [[24542145, 24542313], [24542707, 24542887], [24543259, 24543334], [24543499, 24543574], [24543739, 24543823], [24543914, 24544004], [24544380, 24544485], [24544713, 24544800], [24545035, 24545095], [24545357, 24545491], [24545568, 24545623], [24545714, 24545766], [24546087, 24546221], [24546362, 24546599], [24546801, 24546939]]
Promoter
Chrom Start End Description
chr14 24540104 24540132 CAGE_peak_3_at_CPNE6_5end
chr14 24540154 24540163 CAGE_peak_4_at_CPNE6_5end
chr14 24540747 24540758 CAGE_peak_2_at_CPNE6_5end
chr14 24540761 24540779 CAGE_peak_1_at_CPNE6_5end
chr14 24545144 24545182 CAGE_peak_8_at_CPNE6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I024106 24106201 24106400 0.69 [{'connected_gene': 'CPNE6', 'score': 12.12}, {'connected_gene': 'CARMIL3', 'score': 11.98}, {'connected_gene': 'FITM1', 'score': 11.34}, {'connected_gene': 'PSME1', 'score': 11.31}, {'connected_gene': 'IRF9', 'score': 11.21}, {'connected_gene': 'EMC9', 'score': 10.96}, {'connected_gene': 'PSME2', 'score': 10.81}, {'connected_gene': 'RNF31', 'score': 10.81}, {'connected_gene': 'TM9SF1', 'score': 10.34}, {'connected_gene': 'ENSG00000254692', 'score': 9.96}, {'connected_gene': 'CHMP4A', 'score': 9.96}, {'connected_gene': 'NRL', 'score': 0.44}, {'connected_gene': 'DCAF11', 'score': 0.44}, {'connected_gene': 'PCK2', 'score': 0.39}]
chr14 GH14I024071 24071513 24071572 0.5 [{'connected_gene': 'CPNE6', 'score': 550.77}, {'connected_gene': 'PCK2', 'score': 0.34}]
chr14 GH14I024070 24070863 24070922 0.68 [{'connected_gene': 'CPNE6', 'score': 550.77}, {'connected_gene': 'PCK2', 'score': 0.34}]
chr14 GH14I024080 24080532 24082348 1.44 [{'connected_gene': 'CARMIL3', 'score': 12.89}, {'connected_gene': 'PSME2', 'score': 10.67}, {'connected_gene': 'RNF31', 'score': 10.67}, {'connected_gene': 'IPO4', 'score': 10.35}, {'connected_gene': 'TM9SF1', 'score': 10.34}, {'connected_gene': 'REC8', 'score': 9.96}, {'connected_gene': 'EMC9', 'score': 9.21}, {'connected_gene': 'PCK2', 'score': 0.39}, {'connected_gene': 'CPNE6', 'score': 0.39}, {'connected_gene': 'NRL', 'score': 0.29}]
chr14 GH14I024079 24079812 24079961 0.59 [{'connected_gene': 'CARMIL3', 'score': 11.97}, {'connected_gene': 'EMC9', 'score': 9.13}, {'connected_gene': 'CPNE6', 'score': 0.44}, {'connected_gene': 'PCK2', 'score': 0.39}, {'connected_gene': 'NRL', 'score': 0.28}]
chr14 GH14I024073 24073911 24076119 0.75 [{'connected_gene': 'DHRS4-AS1', 'score': 5.51}, {'connected_gene': 'CPNE6', 'score': 0.77}, {'connected_gene': 'PCK2', 'score': 0.37}]
chr14 GH14I024091 24090400 24096893 2.51 [{'connected_gene': 'PCK2', 'score': 550.77}, {'connected_gene': 'RNA5SP383', 'score': 31.84}, {'connected_gene': 'NGDN', 'score': 31.53}, {'connected_gene': 'ACIN1', 'score': 27.27}, {'connected_gene': 'NYNRIN', 'score': 22.27}, {'connected_gene': 'NFATC4', 'score': 21.86}, {'connected_gene': 'KHNYN', 'score': 21.33}, {'connected_gene': 'IPO4', 'score': 20.52}, {'connected_gene': 'SLC7A8', 'score': 14.08}, {'connected_gene': 'TINF2', 'score': 12.92}, {'connected_gene': 'CARMIL3', 'score': 11.9}, {'connected_gene': 'C14orf119', 'score': 11.57}, {'connected_gene': 'NRL', 'score': 11.43}, {'connected_gene': 'DCAF11', 'score': 11.43}, {'connected_gene': 'SDR39U1', 'score': 11.24}, {'connected_gene': 'ENSG00000259321', 'score': 10.98}, {'connected_gene': 'TM9SF1', 'score': 10.67}, {'connected_gene': 'IRF9', 'score': 10.38}, {'connected_gene': 'RNF31', 'score': 10.16}, {'connected_gene': 'EMC9', 'score': 10.11}, {'connected_gene': 'LOC102724814', 'score': 10.05}, {'connected_gene': 'EFS', 'score': 9.91}, {'connected_gene': 'TSSK4', 'score': 9.89}, {'connected_gene': 'NOP9', 'score': 9.77}, {'connected_gene': 'DHRS4', 'score': 5.72}, {'connected_gene': 'CPNE6', 'score': 0.34}]
chr14 GH14I024108 24108116 24109600 1.19 [{'connected_gene': 'EMC9', 'score': 17.68}, {'connected_gene': 'CPNE6', 'score': 12.12}, {'connected_gene': 'CARMIL3', 'score': 11.97}, {'connected_gene': 'FITM1', 'score': 11.34}, {'connected_gene': 'PSME1', 'score': 11.31}, {'connected_gene': 'IRF9', 'score': 11.21}, {'connected_gene': 'PSME2', 'score': 10.83}, {'connected_gene': 'RNF31', 'score': 10.83}, {'connected_gene': 'TM9SF1', 'score': 10.34}, {'connected_gene': 'ENSG00000254692', 'score': 9.96}, {'connected_gene': 'CHMP4A', 'score': 9.96}, {'connected_gene': 'NRL', 'score': 0.44}, {'connected_gene': 'DCAF11', 'score': 0.44}, {'connected_gene': 'PCK2', 'score': 0.39}]
chr14 GH14I024086 24086636 24086835 0.35 [{'connected_gene': 'NRL', 'score': 23.64}, {'connected_gene': 'CARMIL3', 'score': 12.73}, {'connected_gene': 'DCAF11', 'score': 11.4}, {'connected_gene': 'IRF9', 'score': 10.36}, {'connected_gene': 'IPO4', 'score': 10.02}, {'connected_gene': 'TM9SF1', 'score': 10.02}, {'connected_gene': 'TSSK4', 'score': 9.88}, {'connected_gene': 'PCK2', 'score': 0.44}, {'connected_gene': 'CPNE6', 'score': 0.37}]
chr14 GH14I024084 24084624 24084683 0.5 [{'connected_gene': 'NRL', 'score': 550.29}, {'connected_gene': 'CARMIL3', 'score': 11.73}, {'connected_gene': 'PSME2', 'score': 10.67}, {'connected_gene': 'RNF31', 'score': 10.67}, {'connected_gene': 'IPO4', 'score': 10.0}, {'connected_gene': 'TM9SF1', 'score': 9.99}, {'connected_gene': 'REC8', 'score': 9.71}, {'connected_gene': 'PCK2', 'score': 0.44}, {'connected_gene': 'CPNE6', 'score': 0.39}]
chr14 GH14I024083 24083616 24083675 0.79 [{'connected_gene': 'NRL', 'score': 550.29}, {'connected_gene': 'CARMIL3', 'score': 11.73}, {'connected_gene': 'PSME2', 'score': 10.67}, {'connected_gene': 'RNF31', 'score': 10.67}, {'connected_gene': 'IPO4', 'score': 10.0}, {'connected_gene': 'TM9SF1', 'score': 9.99}, {'connected_gene': 'REC8', 'score': 9.71}, {'connected_gene': 'PCK2', 'score': 0.39}, {'connected_gene': 'CPNE6', 'score': 0.39}]
chr14 GH14I024090 24090212 24090361 0.66 [{'connected_gene': 'NRL', 'score': 11.43}, {'connected_gene': 'DCAF11', 'score': 11.43}, {'connected_gene': 'CARMIL3', 'score': 11.34}, {'connected_gene': 'IRF9', 'score': 10.36}, {'connected_gene': 'IPO4', 'score': 10.03}, {'connected_gene': 'TM9SF1', 'score': 10.02}, {'connected_gene': 'TSSK4', 'score': 9.88}, {'connected_gene': 'PCK2', 'score': 0.77}, {'connected_gene': 'CPNE6', 'score': 0.37}]

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