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
ENST00000307522	[[46913628, 46916841]]	[[46914450, 46916067]]
NM_032040	[[46913585, 46916919]]	[[46914450, 46916067]]

Promoter

Chrom	Start	End	Description
chr19	46916658	46916668	CAGE_peak_5_at_CCDC8_5end
chr19	46916678	46916710	CAGE_peak_3_at_CCDC8_5end
chr19	46916779	46916800	CAGE_peak_4_at_CCDC8_5end
chr19	46916805	46916852	CAGE_peak_1_at_CCDC8_5end
chr19	46916863	46916874	CAGE_peak_2_at_CCDC8_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I046522	46522370	46523634	0.7	[{'connected_gene': 'GNG8', 'score': 10.7}, {'connected_gene': 'PNMA8A', 'score': 6.37}, {'connected_gene': 'PNMA8B', 'score': 4.99}, {'connected_gene': 'CCDC8', 'score': 4.86}, {'connected_gene': 'PTGIR', 'score': 1.34}, {'connected_gene': 'GC19M046472', 'score': 0.77}, {'connected_gene': 'GC19M046508', 'score': 0.39}, {'connected_gene': 'PPP5D1', 'score': 0.18}]
chr19	GH19I046410	46410632	46414605	2.24	[{'connected_gene': 'CCDC8', 'score': 561.17}, {'connected_gene': 'CCDC61', 'score': 50.74}, {'connected_gene': 'ZC3H4', 'score': 50.6}, {'connected_gene': 'ENSG00000269148', 'score': 30.13}, {'connected_gene': 'ENSG00000268810', 'score': 29.9}, {'connected_gene': 'FBXO46', 'score': 23.78}, {'connected_gene': 'CCDC9', 'score': 21.05}, {'connected_gene': 'PRKD2', 'score': 18.35}, {'connected_gene': 'SYMPK', 'score': 12.66}, {'connected_gene': 'QPCTL', 'score': 12.15}, {'connected_gene': 'SLC1A5', 'score': 12.03}, {'connected_gene': 'ENSG00000269124', 'score': 10.98}, {'connected_gene': 'HIF3A', 'score': 10.85}, {'connected_gene': 'PPP5C', 'score': 10.22}, {'connected_gene': 'DM1-AS', 'score': 9.96}, {'connected_gene': 'PNMA8A', 'score': 6.98}, {'connected_gene': 'ERCC1', 'score': 5.42}, {'connected_gene': 'LOC105372426', 'score': 0.44}]
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	GH19I046295	46295845	46305236	2.62	[{'connected_gene': 'HIF3A', 'score': 565.97}, {'connected_gene': 'PPP5C', 'score': 20.92}, {'connected_gene': 'ENSG00000269124', 'score': 8.77}, {'connected_gene': 'FOSB', 'score': 5.26}, {'connected_gene': 'IGFL3', 'score': 4.57}, {'connected_gene': 'MYPOP', 'score': 1.82}, {'connected_gene': 'IRF2BP1', 'score': 1.58}, {'connected_gene': 'CCDC8', 'score': 1.49}, {'connected_gene': 'DACT3', 'score': 1.23}, {'connected_gene': 'GC19M046308', 'score': 0.44}, {'connected_gene': 'RNU6-924P', 'score': 0.44}]
chr19	GH19I046407	46407154	46409867	1.12	[{'connected_gene': 'PPP5C', 'score': 12.73}, {'connected_gene': 'PNMA8A', 'score': 12.35}, {'connected_gene': 'HIF3A', 'score': 10.86}, {'connected_gene': 'LOC105372426', 'score': 0.77}, {'connected_gene': 'CCDC8', 'score': 0.44}]
chr19	GH19I046415	46415300	46417540	1.35	[{'connected_gene': 'PPP5C', 'score': 18.68}, {'connected_gene': 'IRF2BP1', 'score': 14.21}, {'connected_gene': 'ENSG00000269124', 'score': 12.65}, {'connected_gene': 'HIF3A', 'score': 10.85}, {'connected_gene': 'CCDC8', 'score': 10.46}, {'connected_gene': 'PNMA8C', 'score': 0.39}]
chr19	GH19I046425	46425655	46427353	1.13	[{'connected_gene': 'PNMA8A', 'score': 25.19}, {'connected_gene': 'CCDC8', 'score': 13.09}, {'connected_gene': 'PNMA8C', 'score': 0.77}]
chr19	GH19I046442	46442278	46443608	0.99	[{'connected_gene': 'PNMA8A', 'score': 29.76}, {'connected_gene': 'HIF3A', 'score': 10.59}, {'connected_gene': 'CCDC8', 'score': 7.39}, {'connected_gene': 'PIR47325', 'score': 0.77}, {'connected_gene': 'GC19P046447', 'score': 0.77}, {'connected_gene': 'PNMA8C', 'score': 0.39}]
chr19	GH19I046428	46428317	46429181	0.88	[{'connected_gene': 'PNMA8C', 'score': 550.77}, {'connected_gene': 'PNMA8A', 'score': 20.03}, {'connected_gene': 'CCDC8', 'score': 5.1}]
chr19	GH19I046403	46403672	46406050	1.3	[{'connected_gene': 'LOC105372426', 'score': 550.77}, {'connected_gene': 'GC19M046401', 'score': 550.77}, {'connected_gene': 'PPP5C', 'score': 18.03}, {'connected_gene': 'ENSG00000268810', 'score': 14.6}, {'connected_gene': 'ENSG00000204850', 'score': 12.46}, {'connected_gene': 'PNMA8B', 'score': 12.45}, {'connected_gene': 'PNMA8A', 'score': 12.35}, {'connected_gene': 'QPCTL', 'score': 10.41}, {'connected_gene': 'CCDC8', 'score': 5.65}]