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
ENST00000252486 [[45409010, 45409098], [45409858, 45409924], [45411016, 45411209], [45411789, 45412650]] [[45409881, 45409924], [45411016, 45411209], [45411789, 45412507]]
ENST00000446996 [[45409047, 45409098], [45409843, 45409924], [45411016, 45411209], [45411789, 45412201]] [[45409881, 45409924], [45411016, 45411209], [45411789, 45412201]]
ENST00000485628 [[45409052, 45409098], [45409858, 45410583]] None
ENST00000434152 [[45409068, 45409180], [45409858, 45409924], [45411016, 45411209], [45411789, 45412282]] [[45409125, 45409180], [45409858, 45409924], [45411016, 45411209], [45411789, 45412282]]
ENST00000425718 [[45409616, 45409924], [45411016, 45411209], [45411789, 45412211]] [[45409881, 45409924], [45411016, 45411209], [45411789, 45412211]]
NM_000041 [[45409005, 45409098], [45409858, 45409924], [45411016, 45411209], [45411789, 45412652]] [[45409881, 45409924], [45411016, 45411209], [45411789, 45412507]]
NM_001302691 [[45409005, 45409098], [45409843, 45409924], [45411016, 45411209], [45411789, 45412652]] [[45409881, 45409924], [45411016, 45411209], [45411789, 45412507]]
NM_001302688 [[45409005, 45409180], [45409858, 45409924], [45411016, 45411209], [45411789, 45412652]] [[45409125, 45409180], [45409858, 45409924], [45411016, 45411209], [45411789, 45412507]]
NM_001302689 [[45409277, 45409301], [45409858, 45409924], [45411016, 45411209], [45411789, 45412652]] [[45409881, 45409924], [45411016, 45411209], [45411789, 45412507]]
NM_001302690 [[45409657, 45409781], [45409858, 45409924], [45411016, 45411209], [45411789, 45412652]] [[45409881, 45409924], [45411016, 45411209], [45411789, 45412507]]
Promoter
Chrom Start End Description
chr19 45409042 45409061 CAGE_peak_1_at_APOE_5end
chr19 45409274 45409280 CAGE_peak_6_at_APOE_5end
chr19 45409845 45409890 CAGE_peak_2_at_APOE_5end
chr19 45411107 45411153 CAGE_peak_3_at_APOE_5end
chr19 45411165 45411180 CAGE_peak_5_at_APOE_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I044856 44856002 44859542 1.31 [{'connected_gene': 'NECTIN2', 'score': 17.68}, {'connected_gene': 'APOE', 'score': 12.36}, {'connected_gene': 'ENSG00000266903', 'score': 5.21}, {'connected_gene': 'PIR35850', 'score': 0.77}, {'connected_gene': 'TOMM40', 'score': 0.29}]
chr19 GH19I044868 44868106 44871193 1.26 [{'connected_gene': 'NECTIN2', 'score': 53.81}, {'connected_gene': 'TOMM40', 'score': 12.96}, {'connected_gene': 'APOE', 'score': 12.02}, {'connected_gene': 'ZNF225', 'score': 5.52}, {'connected_gene': 'PIR35850', 'score': 0.37}]
chr19 GH19I044806 44806648 44810162 1.94 [{'connected_gene': 'BCAM', 'score': 557.51}, {'connected_gene': 'ENSG00000252200', 'score': 11.51}, {'connected_gene': 'CEACAM19', 'score': 11.16}, {'connected_gene': 'APOE', 'score': 11.03}, {'connected_gene': 'ZNF404', 'score': 4.42}, {'connected_gene': 'PIR44195', 'score': 0.77}, {'connected_gene': 'GC19M044733', 'score': 0.34}]
chr19 GH19I044903 44903357 44907334 2.23 [{'connected_gene': 'APOE', 'score': 560.16}, {'connected_gene': 'ZNF180', 'score': 43.5}, {'connected_gene': 'ZNF224', 'score': 37.41}, {'connected_gene': 'CLASRP', 'score': 34.57}, {'connected_gene': 'ZNF45', 'score': 33.34}, {'connected_gene': 'ZNF230', 'score': 32.18}, {'connected_gene': 'ZNF284', 'score': 26.1}, {'connected_gene': 'ZNF234', 'score': 24.29}, {'connected_gene': 'FBXO46', 'score': 23.48}, {'connected_gene': 'ENSG00000269148', 'score': 21.0}, {'connected_gene': 'ZNF225', 'score': 12.72}, {'connected_gene': 'NECTIN2', 'score': 5.81}, {'connected_gene': 'OPA3', 'score': 4.49}, {'connected_gene': 'GC19P044899', 'score': 0.44}, {'connected_gene': 'GC19M044904', 'score': 0.44}, {'connected_gene': 'TOMM40', 'score': 0.39}]
chr19 GH19I044722 44721001 44721655 0.94 [{'connected_gene': 'APOE', 'score': 9.43}, {'connected_gene': 'CEACAM19', 'score': 4.98}, {'connected_gene': 'CEACAM16', 'score': 3.58}, {'connected_gene': 'CLASRP', 'score': 1.28}, {'connected_gene': 'ENSG00000252200', 'score': 0.77}, {'connected_gene': 'GC19M044726', 'score': 0.77}, {'connected_gene': 'ENSG00000266903', 'score': 0.77}]
chr19 GH19I044960 44960730 44962093 0.49 [{'connected_gene': 'APOC2', 'score': 13.97}, {'connected_gene': 'RELB', 'score': 12.36}, {'connected_gene': 'GEMIN7', 'score': 11.41}, {'connected_gene': 'PPP1R37', 'score': 11.4}, {'connected_gene': 'ZNF296', 'score': 11.4}, {'connected_gene': 'RNU6-611P', 'score': 11.37}, {'connected_gene': 'APOE', 'score': 11.31}, {'connected_gene': 'CLPTM1', 'score': 0.44}, {'connected_gene': 'GC19M044995', 'score': 0.29}]
chr19 GH19I044951 44951126 44952269 1.16 [{'connected_gene': 'APOC2', 'score': 26.41}, {'connected_gene': 'APOE', 'score': 13.28}, {'connected_gene': 'MARK4', 'score': 2.4}, {'connected_gene': 'ENSG00000267114', 'score': 0.77}]
chr19 GH19I045005 45005179 45009445 0.86 [{'connected_gene': 'APOC2', 'score': 17.73}, {'connected_gene': 'CLPTM1', 'score': 14.89}, {'connected_gene': 'CLASRP', 'score': 13.05}, {'connected_gene': 'ENSG00000267114', 'score': 12.68}, {'connected_gene': 'RNU6-611P', 'score': 12.48}, {'connected_gene': 'GEMIN7', 'score': 11.79}, {'connected_gene': 'ZNF296', 'score': 11.79}, {'connected_gene': 'PPP1R37', 'score': 11.77}, {'connected_gene': 'ZNF223', 'score': 11.58}, {'connected_gene': 'ZNF227', 'score': 10.64}, {'connected_gene': 'APOE', 'score': 10.42}, {'connected_gene': 'QPCTL', 'score': 10.41}, {'connected_gene': 'ZNF235', 'score': 10.28}, {'connected_gene': 'ZNF226', 'score': 9.9}, {'connected_gene': 'RELB', 'score': 0.44}]
chr19 GH19I045015 45015317 45017910 1.02 [{'connected_gene': 'APOC2', 'score': 18.51}, {'connected_gene': 'CLASRP', 'score': 13.1}, {'connected_gene': 'RNU6-611P', 'score': 12.51}, {'connected_gene': 'GEMIN7', 'score': 11.9}, {'connected_gene': 'ZNF296', 'score': 11.9}, {'connected_gene': 'PPP1R37', 'score': 11.87}, {'connected_gene': 'APOE', 'score': 10.41}, {'connected_gene': 'RELB', 'score': 0.37}]
chr19 GH19I044923 44923872 44928150 1.43 [{'connected_gene': 'APOC1P1', 'score': 560.61}, {'connected_gene': 'GC19P044927', 'score': 550.77}, {'connected_gene': 'APOC2', 'score': 10.5}, {'connected_gene': 'APOC4', 'score': 9.2}, {'connected_gene': 'IGSF23', 'score': 7.96}, {'connected_gene': 'BCAM', 'score': 6.1}, {'connected_gene': 'APOE', 'score': 4.67}, {'connected_gene': 'APOC1', 'score': 3.32}, {'connected_gene': 'GC19P044915', 'score': 0.39}]
chr19 GH19I045038 45038096 45042036 2.23 [{'connected_gene': 'CLASRP', 'score': 564.07}, {'connected_gene': 'ZNF180', 'score': 83.61}, {'connected_gene': 'ZNF225', 'score': 57.93}, {'connected_gene': 'ZNF284', 'score': 51.09}, {'connected_gene': 'ZNF224', 'score': 49.84}, {'connected_gene': 'MRPS15P2', 'score': 44.92}, {'connected_gene': 'ZNF223', 'score': 43.81}, {'connected_gene': 'ZNF235', 'score': 43.68}, {'connected_gene': 'ZNF234', 'score': 41.22}, {'connected_gene': 'ZNF112', 'score': 40.99}, {'connected_gene': 'ZNF227', 'score': 37.62}, {'connected_gene': 'ZNF226', 'score': 35.61}, {'connected_gene': 'CCDC61', 'score': 32.27}, {'connected_gene': 'ENSG00000267114', 'score': 21.24}, {'connected_gene': 'SYMPK', 'score': 21.05}, {'connected_gene': 'QPCTL', 'score': 20.81}, {'connected_gene': 'GEMIN7', 'score': 17.26}, {'connected_gene': 'ZNF296', 'score': 12.65}, {'connected_gene': 'PPP1R37', 'score': 12.61}, {'connected_gene': 'CEACAM19', 'score': 12.24}, {'connected_gene': 'IRF2BP1', 'score': 11.56}, {'connected_gene': 'APOE', 'score': 11.22}, {'connected_gene': 'ZNF285', 'score': 10.86}, {'connected_gene': 'SNRPD2', 'score': 10.79}, {'connected_gene': 'DM1-AS', 'score': 9.96}, {'connected_gene': 'ERCC1', 'score': 9.9}, {'connected_gene': 'ENSG00000269148', 'score': 9.68}, {'connected_gene': 'NECTIN2', 'score': 6.46}, {'connected_gene': 'TRAPPC6A', 'score': 5.25}, {'connected_gene': 'CD3EAP', 'score': 4.73}, {'connected_gene': 'RNU6-611P', 'score': 0.44}, {'connected_gene': 'RELB', 'score': 0.28}]
chr19 GH19I045401 45401488 45407656 2.56 [{'connected_gene': 'CD3EAP', 'score': 580.45}, {'connected_gene': 'PPP1R13L', 'score': 554.58}, {'connected_gene': 'CCDC61', 'score': 79.13}, {'connected_gene': 'ZNF180', 'score': 71.0}, {'connected_gene': 'CLASRP', 'score': 61.45}, {'connected_gene': 'FBXO46', 'score': 58.33}, {'connected_gene': 'ENSG00000269148', 'score': 58.06}, {'connected_gene': 'IRF2BP1', 'score': 21.26}, {'connected_gene': 'ERCC1', 'score': 20.6}, {'connected_gene': 'ENSG00000268810', 'score': 20.45}, {'connected_gene': 'EML2', 'score': 12.8}, {'connected_gene': 'SYMPK', 'score': 12.03}, {'connected_gene': 'PPM1N', 'score': 11.98}, {'connected_gene': 'RTN2', 'score': 11.96}, {'connected_gene': 'VASP', 'score': 11.69}, {'connected_gene': 'ERCC2', 'score': 11.67}, {'connected_gene': 'DMWD', 'score': 11.34}, {'connected_gene': 'QPCTL', 'score': 11.32}, {'connected_gene': 'MIR330', 'score': 10.49}, {'connected_gene': 'ENSG00000259605', 'score': 10.33}, {'connected_gene': 'ENSG00000267114', 'score': 10.24}, {'connected_gene': 'APOE', 'score': 4.71}, {'connected_gene': 'KLC3', 'score': 4.5}]
chr19 GH19I044889 44889191 44894261 2.4 [{'connected_gene': 'TOMM40', 'score': 554.7}, {'connected_gene': 'ENSG00000267282', 'score': 550.77}, {'connected_gene': 'ZNF180', 'score': 44.22}, {'connected_gene': 'ZNF234', 'score': 32.3}, {'connected_gene': 'ZNF45', 'score': 25.11}, {'connected_gene': 'ZNF224', 'score': 19.01}, {'connected_gene': 'CLASRP', 'score': 16.41}, {'connected_gene': 'ZNF155', 'score': 14.94}, {'connected_gene': 'ENSG00000269148', 'score': 12.84}, {'connected_gene': 'ZNF225', 'score': 12.55}, {'connected_gene': 'FBXO46', 'score': 12.31}, {'connected_gene': 'ZNF284', 'score': 12.08}, {'connected_gene': 'ZNF230', 'score': 11.72}, {'connected_gene': 'MRPS15P2', 'score': 11.65}, {'connected_gene': 'DM1-AS', 'score': 10.45}, {'connected_gene': 'SYMPK', 'score': 10.32}, {'connected_gene': 'RELB', 'score': 10.26}, {'connected_gene': 'ENSG00000259605', 'score': 9.98}, {'connected_gene': 'APOE', 'score': 5.93}, {'connected_gene': 'NECTIN2', 'score': 5.45}, {'connected_gene': 'APOC1P1', 'score': 4.36}, {'connected_gene': 'GEMIN7', 'score': 1.91}, {'connected_gene': 'ZNF285', 'score': 1.21}, {'connected_gene': 'GC19P044899', 'score': 0.44}]
chr19 GH19I044866 44866423 44867000 0.43 [{'connected_gene': 'TOMM40', 'score': 12.96}, {'connected_gene': 'APOE', 'score': 12.02}, {'connected_gene': 'PIR35850', 'score': 0.39}, {'connected_gene': 'NECTIN2', 'score': 0.34}]
chr19 GH19I044807 44806384 44806533 0.2 [{'connected_gene': 'ENSG00000252200', 'score': 11.51}, {'connected_gene': 'CEACAM19', 'score': 11.16}, {'connected_gene': 'APOE', 'score': 11.03}, {'connected_gene': 'BCAM', 'score': 0.77}, {'connected_gene': 'PIR44195', 'score': 0.77}, {'connected_gene': 'GC19M044733', 'score': 0.34}]
chr19 GH19I044721 44721777 44726686 1.67 [{'connected_gene': 'ENSG00000252200', 'score': 550.77}, {'connected_gene': 'GC19M044726', 'score': 550.77}, {'connected_gene': 'ENSG00000266903', 'score': 17.64}, {'connected_gene': 'APOE', 'score': 12.54}, {'connected_gene': 'RELB', 'score': 10.11}, {'connected_gene': 'APOC2', 'score': 5.16}, {'connected_gene': 'BCL3', 'score': 4.67}, {'connected_gene': 'CLASRP', 'score': 4.09}, {'connected_gene': 'IGSF23', 'score': 3.32}, {'connected_gene': 'APOC4', 'score': 2.58}]
chr19 GH19I044717 44717683 44719751 1.33 [{'connected_gene': 'ENSG00000266903', 'score': 594.57}, {'connected_gene': 'APOE', 'score': 9.43}, {'connected_gene': 'CEACAM16', 'score': 0.34}]
chr19 GH19I044909 44909534 44915843 2.27 [{'connected_gene': 'GC19P044915', 'score': 550.77}, {'connected_gene': 'GC19M044904', 'score': 550.77}, {'connected_gene': 'APOC1', 'score': 550.77}, {'connected_gene': 'APOE', 'score': 11.91}, {'connected_gene': 'RELB', 'score': 11.27}, {'connected_gene': 'NECTIN2', 'score': 6.19}, {'connected_gene': 'BCAM', 'score': 4.91}, {'connected_gene': 'ENSG00000280087', 'score': 0.77}]

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