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
ENST00000008938	[[46522410, 46522677], [46522783, 46522905], [46525992, 46526323]]	[[46522495, 46522677], [46522783, 46522905], [46525992, 46526279]]
NM_005091	[[46522410, 46522677], [46522783, 46522905], [46525992, 46526556]]	[[46522495, 46522677], [46522783, 46522905], [46525992, 46526279]]

Promoter

Chrom	Start	End	Description
chr19	46526304	46526317	CAGE_peak_1_at_PGLYRP1_5end
chr19	46526341	46526350	CAGE_peak_3_at_PGLYRP1_5end
chr19	46526602	46526625	CAGE_peak_2_at_PGLYRP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I046021	46021201	46022600	0.88	[{'connected_gene': 'PGLYRP1', 'score': 550.77}, {'connected_gene': 'LOC105372421', 'score': 550.77}, {'connected_gene': 'CCDC61', 'score': 11.56}, {'connected_gene': 'CLASRP', 'score': 11.01}, {'connected_gene': 'ENSG00000268810', 'score': 9.74}, {'connected_gene': 'PTGIR', 'score': 4.31}, {'connected_gene': 'GC19P046021', 'score': 0.77}, {'connected_gene': 'GC19P046013', 'score': 0.44}]
chr19	GH19I046023	46023043	46023102	0.5	[{'connected_gene': 'PGLYRP1', 'score': 550.77}, {'connected_gene': 'LOC105372421', 'score': 550.77}, {'connected_gene': 'GC19P046021', 'score': 0.77}, {'connected_gene': 'GC19P046013', 'score': 0.39}]
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	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	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	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}]