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
ENST00000396864 [[24630261, 24630547], [24631352, 24631533], [24632174, 24632358], [24632586, 24632717], [24633086, 24633168], [24633271, 24633343], [24633822, 24634164], [24635055, 24635171], [24635330, 24635774]] [[24631353, 24631533], [24632174, 24632358], [24632586, 24632717], [24633086, 24633168], [24633271, 24633343], [24633822, 24634164], [24635055, 24635171], [24635330, 24635405]]
ENST00000557894 [[24630481, 24630547], [24632174, 24632358], [24632586, 24632717], [24633086, 24633168], [24633271, 24633343], [24633822, 24634164], [24634265, 24634392], [24635055, 24635171], [24635330, 24635601]] [[24632300, 24632358], [24632586, 24632717], [24633086, 24633168], [24633271, 24633343], [24633822, 24634164], [24634265, 24634392], [24635055, 24635171], [24635330, 24635464]]
ENST00000561342 [[24630485, 24630547], [24631352, 24631489], [24632174, 24632358], [24632586, 24632717], [24633086, 24633168], [24633271, 24633343], [24633822, 24634164], [24635055, 24635111]] [[24631353, 24631489], [24632174, 24632191]]
ENST00000561009 [[24630498, 24630547], [24631352, 24631533], [24632174, 24632490]] None
ENST00000560365 [[24630498, 24630547], [24631352, 24631533], [24632174, 24632358], [24632586, 24632795]] None
ENST00000561415 [[24630498, 24630547], [24631352, 24631533], [24632174, 24632358], [24632586, 24632717], [24633086, 24633168], [24633271, 24634164], [24635055, 24635171], [24635330, 24635463]] None
ENST00000559284 [[24630501, 24630547], [24631352, 24631533], [24632174, 24632358], [24632586, 24632717], [24633271, 24633312]] [[24631353, 24631533], [24632174, 24632358], [24632586, 24632717], [24633271, 24633312]]
ENST00000560275 [[24630509, 24630547], [24631352, 24631533], [24632174, 24632358], [24632586, 24632717], [24633086, 24633168], [24633271, 24633343], [24633795, 24633948]] [[24631353, 24631533], [24632174, 24632358], [24632586, 24632717], [24633086, 24633168], [24633271, 24633343], [24633795, 24633948]]
ENST00000561412 [[24630512, 24630547], [24631352, 24631925]] None
ENST00000560852 [[24630525, 24630547], [24631352, 24631489], [24632174, 24632358], [24632586, 24632974]] [[24631353, 24631489], [24632174, 24632191]]
ENST00000324076 [[24632204, 24632358], [24632586, 24632717], [24633086, 24633168], [24633271, 24633343], [24635055, 24635171], [24635330, 24635433]] [[24632204, 24632358], [24632586, 24632717], [24633086, 24633168], [24633271, 24633343], [24635055, 24635171], [24635330, 24635405]]
ENST00000559863 [[24632820, 24633168], [24633271, 24633496]] None
ENST00000559229 [[24633083, 24633343], [24633822, 24634129]] None
ENST00000560542 [[24633738, 24634164], [24634265, 24634658]] None
ENST00000560311 [[24634967, 24635171], [24635330, 24635774]] None
NM_006084 [[24630421, 24630547], [24631352, 24631533], [24632174, 24632358], [24632586, 24632717], [24633086, 24633168], [24633271, 24633343], [24633822, 24634164], [24635055, 24635171], [24635330, 24635774]] [[24631353, 24631533], [24632174, 24632358], [24632586, 24632717], [24633086, 24633168], [24633271, 24633343], [24633822, 24634164], [24635055, 24635171], [24635330, 24635405]]
Promoter
Chrom Start End Description
chr14 24630465 24630531 CAGE_peak_1_at_IRF9_5end
chr14 24630902 24630948 CAGE_peak_2_at_IRF9_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 GH14I024422 24422587 24432903 2.73 [{'connected_gene': 'CBLN3', 'score': 613.66}, {'connected_gene': 'KHNYN', 'score': 587.15}, {'connected_gene': 'SDR39U1', 'score': 48.57}, {'connected_gene': 'NYNRIN', 'score': 32.89}, {'connected_gene': 'MDP1', 'score': 19.14}, {'connected_gene': 'NGDN', 'score': 16.54}, {'connected_gene': 'NFATC4', 'score': 14.4}, {'connected_gene': 'ENSG00000259321', 'score': 11.45}, {'connected_gene': 'TINF2', 'score': 11.17}, {'connected_gene': 'ADCY4', 'score': 10.49}, {'connected_gene': 'ZFHX2-AS1', 'score': 9.84}, {'connected_gene': 'NEDD8-MDP1', 'score': 9.36}, {'connected_gene': 'NEDD8', 'score': 9.36}, {'connected_gene': 'IRF9', 'score': 3.91}, {'connected_gene': 'PSME1', 'score': 1.2}]
chr14 GH14I024270 24270149 24275502 2.41 [{'connected_gene': 'RABGGTA', 'score': 550.77}, {'connected_gene': 'LOC102725044', 'score': 550.77}, {'connected_gene': 'TSSK4', 'score': 35.45}, {'connected_gene': 'IPO4', 'score': 31.35}, {'connected_gene': 'RNF31', 'score': 23.06}, {'connected_gene': 'HOMEZ', 'score': 21.69}, {'connected_gene': 'KHNYN', 'score': 21.54}, {'connected_gene': 'NOP9', 'score': 21.08}, {'connected_gene': 'NGDN', 'score': 20.87}, {'connected_gene': 'DHRS1', 'score': 18.86}, {'connected_gene': 'TINF2', 'score': 17.44}, {'connected_gene': 'LTB4R', 'score': 15.37}, {'connected_gene': 'RNA5SP383', 'score': 12.42}, {'connected_gene': 'NEDD8-MDP1', 'score': 11.71}, {'connected_gene': 'NEDD8', 'score': 11.71}, {'connected_gene': 'GMPR2', 'score': 11.22}, {'connected_gene': 'CHMP4A', 'score': 10.9}, {'connected_gene': 'ENSG00000254692', 'score': 10.9}, {'connected_gene': 'MDP1', 'score': 10.9}, {'connected_gene': 'TM9SF1', 'score': 10.86}, {'connected_gene': 'BCL2L2-PABPN1', 'score': 10.83}, {'connected_gene': 'THTPA', 'score': 10.22}, {'connected_gene': 'SDR39U1', 'score': 9.86}, {'connected_gene': 'LOC102724814', 'score': 9.72}, {'connected_gene': 'CBLN3', 'score': 9.22}, {'connected_gene': 'RIPK3', 'score': 7.48}, {'connected_gene': 'IRF9', 'score': 4.27}, {'connected_gene': 'PSME1', 'score': 1.59}, {'connected_gene': 'DCAF11', 'score': 1.37}, {'connected_gene': 'PIR40275', 'score': 0.44}]
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 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}]
chr14 GH14I024113 24113283 24116397 2.13 [{'connected_gene': 'NRL', 'score': 550.77}, {'connected_gene': 'DCAF11', 'score': 550.77}, {'connected_gene': 'RNF31', 'score': 32.74}, {'connected_gene': 'NFATC4', 'score': 32.08}, {'connected_gene': 'IPO4', 'score': 31.32}, {'connected_gene': 'HOMEZ', 'score': 30.09}, {'connected_gene': 'RNA5SP383', 'score': 27.44}, {'connected_gene': 'TSSK4', 'score': 24.61}, {'connected_gene': 'TM9SF1', 'score': 24.46}, {'connected_gene': 'KHNYN', 'score': 24.4}, {'connected_gene': 'NGDN', 'score': 24.35}, {'connected_gene': 'TINF2', 'score': 23.38}, {'connected_gene': 'LOC102724814', 'score': 21.0}, {'connected_gene': 'THTPA', 'score': 19.2}, {'connected_gene': 'EMC9', 'score': 18.08}, {'connected_gene': 'NOP9', 'score': 12.09}, {'connected_gene': 'PSME1', 'score': 11.86}, {'connected_gene': 'PCK2', 'score': 11.13}, {'connected_gene': 'PSME2', 'score': 11.04}, {'connected_gene': 'IRF9', 'score': 10.43}, {'connected_gene': 'EFS', 'score': 9.9}, {'connected_gene': 'CIDEB', 'score': 9.79}]
chr14 GH14I024240 24240327 24244153 2.5 [{'connected_gene': 'TINF2', 'score': 567.06}, {'connected_gene': 'KHNYN', 'score': 25.59}, {'connected_gene': 'RNA5SP383', 'score': 24.32}, {'connected_gene': 'LOC102724814', 'score': 18.69}, {'connected_gene': 'NGDN', 'score': 15.08}, {'connected_gene': 'NYNRIN', 'score': 12.14}, {'connected_gene': 'RNF31', 'score': 12.06}, {'connected_gene': 'SDR39U1', 'score': 11.17}, {'connected_gene': 'ENSG00000259321', 'score': 10.22}, {'connected_gene': 'TGM1', 'score': 10.0}, {'connected_gene': 'IRF9', 'score': 6.98}, {'connected_gene': 'PSME1', 'score': 2.87}, {'connected_gene': 'RIPK3', 'score': 2.19}, {'connected_gene': 'DHRS4L1', 'score': 1.81}, {'connected_gene': 'DCAF11', 'score': 1.79}, {'connected_gene': 'CIDEB', 'score': 1.37}, {'connected_gene': 'LTB4R', 'score': 1.33}, {'connected_gene': 'NEDD8', 'score': 0.44}]
chr14 GH14I024159 24159525 24163571 2.09 [{'connected_gene': 'IRF9', 'score': 550.77}, {'connected_gene': 'TM9SF1', 'score': 17.92}, {'connected_gene': 'RNA5SP383', 'score': 16.51}, {'connected_gene': 'KHNYN', 'score': 15.65}, {'connected_gene': 'RNF31', 'score': 12.84}, {'connected_gene': 'LOC102724814', 'score': 12.7}, {'connected_gene': 'TINF2', 'score': 12.4}, {'connected_gene': 'HOMEZ', 'score': 9.85}, {'connected_gene': 'CIDEB', 'score': 9.82}, {'connected_gene': 'RIPK3', 'score': 9.47}, {'connected_gene': 'TSSK4', 'score': 4.89}, {'connected_gene': 'ENSG00000259529', 'score': 0.39}, {'connected_gene': 'REC8', 'score': 0.39}]
chr14 GH14I024277 24277001 24282199 1.21 [{'connected_gene': 'PIR40275', 'score': 550.77}, {'connected_gene': 'DHRS1', 'score': 39.77}, {'connected_gene': 'TINF2', 'score': 16.94}, {'connected_gene': 'NOP9', 'score': 12.92}, {'connected_gene': 'LTB4R2', 'score': 12.85}, {'connected_gene': 'LTB4R', 'score': 12.83}, {'connected_gene': 'CIDEB', 'score': 12.83}, {'connected_gene': 'GMPR2', 'score': 12.16}, {'connected_gene': 'NEDD8-MDP1', 'score': 12.16}, {'connected_gene': 'NEDD8', 'score': 12.16}, {'connected_gene': 'MDP1', 'score': 11.14}, {'connected_gene': 'CHMP4A', 'score': 11.13}, {'connected_gene': 'ENSG00000254692', 'score': 11.13}, {'connected_gene': 'TM9SF1', 'score': 11.1}, {'connected_gene': 'ADCY4', 'score': 10.8}, {'connected_gene': 'IPO4', 'score': 10.53}, {'connected_gene': 'REC8', 'score': 10.39}, {'connected_gene': 'TSSK4', 'score': 10.22}, {'connected_gene': 'IRF9', 'score': 3.96}, {'connected_gene': 'KHNYN', 'score': 2.93}, {'connected_gene': 'PSME1', 'score': 1.59}, {'connected_gene': 'DCAF11', 'score': 1.26}, {'connected_gene': 'LOC102725044', 'score': 0.44}]

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