PsyMuKB

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
NM_001002923	[[46543005, 46543194], [46543414, 46543674], [46543775, 46543826], [46544201, 46544274]]	[[46543149, 46543194], [46543414, 46543674], [46543775, 46543826], [46544201, 46544220]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
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	GH19I046067	46067803	46071041	1.31	[{'connected_gene': 'HIF3A', 'score': 10.4}, {'connected_gene': 'IRF2BP1', 'score': 10.13}, {'connected_gene': 'LOC93429', 'score': 9.23}, {'connected_gene': 'IGFL3', 'score': 7.52}, {'connected_gene': 'KLC3', 'score': 6.92}, {'connected_gene': 'PIR33092', 'score': 0.77}, {'connected_gene': 'LOC400706', 'score': 0.44}, {'connected_gene': 'IGFL4', 'score': 0.44}]
chr19	GH19I046040	46040996	46041055	0.95	[{'connected_gene': 'IGFL4', 'score': 550.28}, {'connected_gene': 'CCDC61', 'score': 12.78}, {'connected_gene': 'PIR35316', 'score': 0.37}, {'connected_gene': 'LOC105372421', 'score': 0.37}]
chr19	GH19I046078	46078683	46078812	0.62	[{'connected_gene': 'LOC400706', 'score': 550.77}, {'connected_gene': 'IGFL2', 'score': 550.77}, {'connected_gene': 'PIR37387', 'score': 550.77}, {'connected_gene': 'GC19P046077', 'score': 550.77}, {'connected_gene': 'IGFL4', 'score': 550.77}, {'connected_gene': 'HIF3A', 'score': 10.23}, {'connected_gene': 'SYMPK', 'score': 9.98}, {'connected_gene': 'FOXA3', 'score': 9.98}]
chr19	GH19I046077	46077401	46078038	1.34	[{'connected_gene': 'LOC400706', 'score': 550.77}, {'connected_gene': 'IGFL2', 'score': 550.77}, {'connected_gene': 'PIR37387', 'score': 550.77}, {'connected_gene': 'GC19P046077', 'score': 550.77}, {'connected_gene': 'IGFL4', 'score': 550.77}, {'connected_gene': 'IGFL3', 'score': 11.31}, {'connected_gene': 'HIF3A', 'score': 10.23}, {'connected_gene': 'SYMPK', 'score': 9.98}, {'connected_gene': 'FOXA3', 'score': 9.98}]
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	GH19I045629	45629628	45633344	1.37	[{'connected_gene': 'EML2', 'score': 9.64}, {'connected_gene': 'IGFL4', 'score': 4.85}, {'connected_gene': 'NKPD1', 'score': 2.06}, {'connected_gene': 'NANOS2', 'score': 1.93}, {'connected_gene': 'EXOC3L2', 'score': 1.48}, {'connected_gene': 'GC19M045633', 'score': 0.77}, {'connected_gene': 'PIR54112', 'score': 0.34}]
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	GH19I045680	45680909	45682385	1.2	[{'connected_gene': 'GC19M045670', 'score': 550.77}, {'connected_gene': 'SNRPD2', 'score': 19.64}, {'connected_gene': 'IGFL4', 'score': 10.62}, {'connected_gene': 'QPCTL', 'score': 0.39}, {'connected_gene': 'GIPR', 'score': 0.39}, {'connected_gene': 'GC19P045665', 'score': 0.37}]
chr19	GH19I046056	46056583	46056832	0.56	[{'connected_gene': 'PIR35316', 'score': 550.77}, {'connected_gene': 'HIF3A', 'score': 10.52}, {'connected_gene': 'IGFL4', 'score': 0.34}, {'connected_gene': 'LOC105372421', 'score': 0.29}]
chr19	GH19I046065	46065643	46065792	0.62	[{'connected_gene': 'PIR33092', 'score': 550.77}, {'connected_gene': 'IRF2BP1', 'score': 14.3}, {'connected_gene': 'PPP1R37', 'score': 13.78}, {'connected_gene': 'ENSG00000268810', 'score': 12.96}, {'connected_gene': 'PGLYRP1', 'score': 11.51}, {'connected_gene': 'MIR769', 'score': 11.5}, {'connected_gene': 'PPP5C', 'score': 10.18}, {'connected_gene': 'HIF3A', 'score': 10.03}, {'connected_gene': 'PIR35316', 'score': 0.44}, {'connected_gene': 'LOC400706', 'score': 0.39}, {'connected_gene': 'IGFL4', 'score': 0.39}]
chr19	GH19I045466	45466964	45471228	2.27	[{'connected_gene': 'GC19P045469', 'score': 550.77}, {'connected_gene': 'FOSB', 'score': 550.77}, {'connected_gene': 'ZNF180', 'score': 28.95}, {'connected_gene': 'CLASRP', 'score': 27.63}, {'connected_gene': 'CCDC61', 'score': 25.38}, {'connected_gene': 'CD3EAP', 'score': 20.86}, {'connected_gene': 'FBXO46', 'score': 20.52}, {'connected_gene': 'ENSG00000269148', 'score': 14.79}, {'connected_gene': 'ENSG00000268810', 'score': 13.43}, {'connected_gene': 'BLOC1S3', 'score': 12.14}, {'connected_gene': 'PPP1R13L', 'score': 12.02}, {'connected_gene': 'RTN2', 'score': 11.91}, {'connected_gene': 'VASP', 'score': 11.87}, {'connected_gene': 'IGFL4', 'score': 10.6}, {'connected_gene': 'IRF2BP1', 'score': 10.09}, {'connected_gene': 'ERCC1', 'score': 7.97}, {'connected_gene': 'PPM1N', 'score': 5.78}]
chr19	GH19I046049	46049763	46049832	0.57	[{'connected_gene': 'PIR35316', 'score': 0.44}, {'connected_gene': 'LOC105372421', 'score': 0.31}, {'connected_gene': 'IGFL4', 'score': 0.31}]