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
ENST00000263257 [[46436991, 46444203], [46457037, 46457204], [46464267, 46464411], [46476524, 46476804]] [[46443120, 46444203], [46457037, 46457204], [46464267, 46464411], [46476524, 46476609]]
ENST00000596784 [[46444151, 46444203], [46457037, 46457204], [46464267, 46464411], [46465529, 46465864]] [[46444151, 46444203], [46457037, 46457106]]
ENST00000599462 [[46470651, 46471197], [46476524, 46476567]] None
NM_002516 [[46436991, 46444203], [46457037, 46457204], [46464267, 46464411], [46476524, 46476657]] [[46443120, 46444203], [46457037, 46457204], [46464267, 46464411], [46476524, 46476609]]
Promoter
Chrom Start End Description
chr19 46476654 46476725 CAGE_peak_2_at_NOVA2_5end
chr19 46476791 46476819 CAGE_peak_1_at_NOVA2_5end
chr19 46477121 46477125 CAGE_peak_3_at_NOVA2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I045058 45058868 45061498 1.1 [{'connected_gene': 'ZNF180', 'score': 40.31}, {'connected_gene': 'ZNF225', 'score': 38.25}, {'connected_gene': 'ZNF234', 'score': 19.38}, {'connected_gene': 'ZNF227', 'score': 18.73}, {'connected_gene': 'ZNF226', 'score': 15.73}, {'connected_gene': 'ZNF285', 'score': 14.85}, {'connected_gene': 'LOC100379224', 'score': 12.64}, {'connected_gene': 'MRPS15P2', 'score': 11.65}, {'connected_gene': 'IRF2BP1', 'score': 11.32}, {'connected_gene': 'SYMPK', 'score': 11.06}, {'connected_gene': 'ZNF235', 'score': 11.06}, {'connected_gene': 'ENSG00000267114', 'score': 10.95}, {'connected_gene': 'SNRPD2', 'score': 10.62}, {'connected_gene': 'DM1-AS', 'score': 10.45}, {'connected_gene': 'ZNF112', 'score': 10.22}, {'connected_gene': 'ENSG00000259605', 'score': 9.98}, {'connected_gene': 'ZNF284', 'score': 9.83}, {'connected_gene': 'NOVA2', 'score': 9.82}, {'connected_gene': 'CCDC61', 'score': 9.66}, {'connected_gene': 'CLASRP', 'score': 5.66}, {'connected_gene': 'GC19P045068', 'score': 0.44}, {'connected_gene': 'GC19P045054', 'score': 0.44}]
chr19 GH19I045994 45994443 45996287 2.02 [{'connected_gene': 'CCDC61', 'score': 571.54}, {'connected_gene': 'ENSG00000268810', 'score': 23.81}, {'connected_gene': 'SYMPK', 'score': 21.06}, {'connected_gene': 'FOXA3', 'score': 10.76}, {'connected_gene': 'QPCTL', 'score': 10.44}, {'connected_gene': 'CD3EAP', 'score': 4.88}, {'connected_gene': 'NOVA2', 'score': 0.34}]
chr19 GH19I045927 45927303 45928417 1.23 [{'connected_gene': 'CCDC61', 'score': 40.95}, {'connected_gene': 'SYMPK', 'score': 34.19}, {'connected_gene': 'CLASRP', 'score': 32.18}, {'connected_gene': 'ENSG00000269148', 'score': 22.3}, {'connected_gene': 'ENSG00000268810', 'score': 19.02}, {'connected_gene': 'PNMA8A', 'score': 17.23}, {'connected_gene': 'PPP5D1', 'score': 14.77}, {'connected_gene': 'FBXO46', 'score': 14.11}, {'connected_gene': 'MYPOP', 'score': 12.68}, {'connected_gene': 'QPCTL', 'score': 12.19}, {'connected_gene': 'IRF2BP1', 'score': 11.28}, {'connected_gene': 'FOXA3', 'score': 10.96}, {'connected_gene': 'PNMA8B', 'score': 10.82}, {'connected_gene': 'SNRPD2', 'score': 10.23}, {'connected_gene': 'NOVA2', 'score': 10.04}, {'connected_gene': 'DM1-AS', 'score': 10.02}, {'connected_gene': 'ENSG00000269124', 'score': 9.77}, {'connected_gene': 'FKRP', 'score': 4.67}, {'connected_gene': 'NANOS2', 'score': 0.39}, {'connected_gene': 'GC19M045925', 'score': 0.31}]
chr19 GH19I046241 46241094 46242620 0.31 [{'connected_gene': 'CCDC61', 'score': 10.72}, {'connected_gene': 'NOVA2', 'score': 10.72}, {'connected_gene': 'LOC93429', 'score': 5.85}, {'connected_gene': 'IGFL3', 'score': 4.75}, {'connected_gene': 'ENSG00000277748', 'score': 0.44}, {'connected_gene': 'ENSG00000269745', 'score': 0.39}]
chr19 GH19I046238 46238680 46239999 0.31 [{'connected_gene': 'CCDC61', 'score': 10.72}, {'connected_gene': 'NOVA2', 'score': 10.72}, {'connected_gene': 'IGFL2-AS1', 'score': 8.96}, {'connected_gene': 'ENSG00000269745', 'score': 0.44}, {'connected_gene': 'ENSG00000277748', 'score': 0.39}]
chr19 GH19I046240 46240844 46240993 0.43 [{'connected_gene': 'CCDC61', 'score': 10.72}, {'connected_gene': 'NOVA2', 'score': 10.72}, {'connected_gene': 'ENSG00000277748', 'score': 0.44}, {'connected_gene': 'ENSG00000269745', 'score': 0.39}]
chr19 GH19I045960 45960203 45960963 0.6 [{'connected_gene': 'CCDC61', 'score': 5.9}, {'connected_gene': 'GC19M045925', 'score': 0.77}, {'connected_gene': 'NOVA2', 'score': 0.39}]
chr19 GH19I046782 46782400 46789163 2.34 [{'connected_gene': 'SLC1A5', 'score': 575.06}, {'connected_gene': 'CCDC61', 'score': 72.39}, {'connected_gene': 'ZC3H4', 'score': 67.02}, {'connected_gene': 'CCDC9', 'score': 46.72}, {'connected_gene': 'BICRA', 'score': 46.57}, {'connected_gene': 'NOP53-AS1', 'score': 37.1}, {'connected_gene': 'ENSG00000269148', 'score': 36.78}, {'connected_gene': 'PRKD2', 'score': 31.3}, {'connected_gene': 'SNORD23', 'score': 29.51}, {'connected_gene': 'ENSG00000268810', 'score': 22.26}, {'connected_gene': 'NOP53', 'score': 21.72}, {'connected_gene': 'STRN4', 'score': 14.95}, {'connected_gene': 'IRF2BP1', 'score': 12.93}, {'connected_gene': 'SYMPK', 'score': 12.01}, {'connected_gene': 'LOC105372421', 'score': 11.94}, {'connected_gene': 'PNMA8A', 'score': 11.84}, {'connected_gene': 'IGFL4', 'score': 11.22}, {'connected_gene': 'PPP5D1', 'score': 11.18}, {'connected_gene': 'MEIS3', 'score': 10.85}, {'connected_gene': 'LOC93429', 'score': 10.56}, {'connected_gene': 'NOVA2', 'score': 10.46}, {'connected_gene': 'FKRP', 'score': 10.11}, {'connected_gene': 'ENSG00000268746', 'score': 9.8}, {'connected_gene': 'CCDC8', 'score': 5.54}, {'connected_gene': 'ENSG00000275719', 'score': 0.77}, {'connected_gene': 'PIR51442', 'score': 0.31}]
chr19 GH19I046265 46265364 46265513 0.71 [{'connected_gene': 'HIF3A', 'score': 11.73}, {'connected_gene': 'IGFL4', 'score': 11.22}, {'connected_gene': 'PGLYRP1', 'score': 11.06}, {'connected_gene': 'MIR769', 'score': 11.06}, {'connected_gene': 'CCDC61', 'score': 10.2}, {'connected_gene': 'NOVA2', 'score': 10.2}, {'connected_gene': 'IGFL1P2', 'score': 0.77}]
chr19 GH19I045500 45496019 45496343 0.86 [{'connected_gene': 'RTN2', 'score': 553.68}, {'connected_gene': 'NOVA2', 'score': 3.05}, {'connected_gene': 'DMPK', 'score': 1.18}, {'connected_gene': 'PPM1N', 'score': 0.44}]
chr19 GH19I045250 45250689 45253580 2.22 [{'connected_gene': 'MARK4', 'score': 570.57}, {'connected_gene': 'ZNF235', 'score': 30.24}, {'connected_gene': 'MRPS15P2', 'score': 17.63}, {'connected_gene': 'ZNF180', 'score': 17.32}, {'connected_gene': 'ZNF285', 'score': 14.85}, {'connected_gene': 'IRF2BP1', 'score': 12.94}, {'connected_gene': 'ZNF112', 'score': 12.57}, {'connected_gene': 'ERCC2', 'score': 10.69}, {'connected_gene': 'ENSG00000267114', 'score': 10.25}, {'connected_gene': 'RELB', 'score': 9.95}, {'connected_gene': 'NOVA2', 'score': 9.82}, {'connected_gene': 'VASP', 'score': 2.97}, {'connected_gene': 'CLASRP', 'score': 1.63}, {'connected_gene': 'EXOC3L2', 'score': 0.44}, {'connected_gene': 'GC19M045307', 'score': 0.22}]
chr19 GH19I045974 45974003 45974172 0.65 [{'connected_gene': 'NOVA2', 'score': 550.77}, {'connected_gene': 'CCDC61', 'score': 0.34}]
chr19 GH19I045972 45972143 45972252 0.66 [{'connected_gene': 'NOVA2', 'score': 550.77}, {'connected_gene': 'DM1-AS', 'score': 10.51}, {'connected_gene': 'ENSG00000259605', 'score': 10.03}, {'connected_gene': 'GC19M045925', 'score': 0.37}]
chr19 GH19I045973 45973000 45974001 1.48 [{'connected_gene': 'NOVA2', 'score': 550.77}, {'connected_gene': 'CD3EAP', 'score': 5.54}, {'connected_gene': 'GC19M045925', 'score': 0.37}]
chr19 GH19I045602 45601043 45601443 0.65 [{'connected_gene': 'GPR4', 'score': 569.31}, {'connected_gene': 'OPA3', 'score': 550.77}, {'connected_gene': 'NOVA2', 'score': 4.49}, {'connected_gene': 'GC19P045560', 'score': 0.26}]
chr19 GH19I046263 46263024 46263173 0.92 [{'connected_gene': 'IRF2BP1', 'score': 42.8}, {'connected_gene': 'ZC3H4', 'score': 34.37}, {'connected_gene': 'CCDC61', 'score': 31.02}, {'connected_gene': 'PPP5D1', 'score': 24.38}, {'connected_gene': 'ENSG00000269124', 'score': 20.65}, {'connected_gene': 'NOVA2', 'score': 19.99}, {'connected_gene': 'ENSG00000268810', 'score': 19.74}, {'connected_gene': 'PNMA8A', 'score': 14.63}, {'connected_gene': 'HIF3A', 'score': 11.73}, {'connected_gene': 'IGFL4', 'score': 11.22}, {'connected_gene': 'MIR769', 'score': 11.06}, {'connected_gene': 'PGLYRP1', 'score': 11.06}, {'connected_gene': 'PNMA8B', 'score': 10.86}, {'connected_gene': 'DM1-AS', 'score': 10.47}, {'connected_gene': 'SAE1', 'score': 10.41}, {'connected_gene': 'PPP5C', 'score': 10.14}, {'connected_gene': 'ENSG00000259605', 'score': 9.99}, {'connected_gene': 'IGFL1P2', 'score': 0.77}]
chr19 GH19I045483 45483815 45484069 0.28 [{'connected_gene': 'CLASRP', 'score': 1.72}, {'connected_gene': 'RELB', 'score': 1.62}, {'connected_gene': 'NOVA2', 'score': 1.21}, {'connected_gene': 'PPM1N', 'score': 0.77}, {'connected_gene': 'ERCC1', 'score': 0.44}]
chr19 GH19I045151 45151470 45155212 1.18 [{'connected_gene': 'LOC105372420', 'score': 550.77}, {'connected_gene': 'ZNF285', 'score': 14.85}, {'connected_gene': 'PPP1R37', 'score': 10.54}, {'connected_gene': 'NOVA2', 'score': 9.82}, {'connected_gene': 'GEMIN7', 'score': 7.77}, {'connected_gene': 'NKPD1', 'score': 7.57}, {'connected_gene': 'GC19M045151', 'score': 0.77}, {'connected_gene': 'MARK4', 'score': 0.19}]
chr19 GH19I046600 46600083 46604706 2.33 [{'connected_gene': 'PPP5D1', 'score': 565.51}, {'connected_gene': 'CALM3', 'score': 556.9}, {'connected_gene': 'ENSG00000268423', 'score': 550.77}, {'connected_gene': 'GC19M046598', 'score': 550.77}, {'connected_gene': 'ZC3H4', 'score': 65.44}, {'connected_gene': 'ENSG00000268810', 'score': 43.08}, {'connected_gene': 'CCDC61', 'score': 40.01}, {'connected_gene': 'ENSG00000269148', 'score': 36.1}, {'connected_gene': 'FBXO46', 'score': 30.44}, {'connected_gene': 'CCDC9', 'score': 22.26}, {'connected_gene': 'IRF2BP1', 'score': 21.24}, {'connected_gene': 'PNMA8A', 'score': 14.67}, {'connected_gene': 'DM1-AS', 'score': 13.24}, {'connected_gene': 'GNG8', 'score': 12.29}, {'connected_gene': 'SLC1A5', 'score': 12.06}, {'connected_gene': 'INAFM1', 'score': 11.49}, {'connected_gene': 'PNMA8B', 'score': 10.93}, {'connected_gene': 'ENSG00000269124', 'score': 10.85}, {'connected_gene': 'SLC8A2', 'score': 10.63}, {'connected_gene': 'SAE1', 'score': 10.42}, {'connected_gene': 'QPCTL', 'score': 10.41}, {'connected_gene': 'ENSG00000259605', 'score': 10.18}, {'connected_gene': 'PRKD2', 'score': 10.14}, {'connected_gene': 'NOVA2', 'score': 9.82}, {'connected_gene': 'SNRPD2', 'score': 9.67}, {'connected_gene': 'ENSG00000269292', 'score': 0.44}]
chr19 GH19I045952 45952359 45957018 1.14 [{'connected_gene': 'GC19M045925', 'score': 550.77}, {'connected_gene': 'CCDC61', 'score': 19.19}, {'connected_gene': 'MYPOP', 'score': 11.48}, {'connected_gene': 'MIR769', 'score': 11.28}, {'connected_gene': 'PGLYRP1', 'score': 11.27}, {'connected_gene': 'SYMPK', 'score': 11.01}, {'connected_gene': 'FOXA3', 'score': 11.01}, {'connected_gene': 'IGFL4', 'score': 10.12}, {'connected_gene': 'HIF3A', 'score': 9.88}, {'connected_gene': 'DMWD', 'score': 4.69}, {'connected_gene': 'ERCC1', 'score': 4.5}, {'connected_gene': 'NOVA2', 'score': 0.37}, {'connected_gene': 'NANOS2', 'score': 0.28}]
chr19 GH19I045999 45999601 46001283 1.38 [{'connected_gene': 'GC19M045998', 'score': 550.77}, {'connected_gene': 'ENSG00000268810', 'score': 31.75}, {'connected_gene': 'CCDC61', 'score': 12.02}, {'connected_gene': 'CLASRP', 'score': 11.01}, {'connected_gene': 'SYMPK', 'score': 11.0}, {'connected_gene': 'FOXA3', 'score': 11.0}, {'connected_gene': 'QPCTL', 'score': 10.45}, {'connected_gene': 'PNMA8A', 'score': 3.3}, {'connected_gene': 'EML2', 'score': 3.01}, {'connected_gene': 'PNMA8B', 'score': 2.39}, {'connected_gene': 'NOVA2', 'score': 2.03}]

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