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
ENST00000261170	[[14765575, 14766225], [14767800, 14767877], [14769566, 14769661], [14772144, 14772243], [14773975, 14774150], [14774938, 14775131], [14778690, 14778849], [14781579, 14781671], [14792795, 14792884], [14794015, 14794153], [14796507, 14796640], [14798162, 14798249], [14804340, 14804445], [14804892, 14804964], [14805885, 14805948], [14809445, 14809551], [14813914, 14813996], [14822655, 14822767], [14825806, 14825892], [14827558, 14827694], [14829787, 14829905], [14832590, 14832687], [14834289, 14834411], [14835975, 14836191], [14839094, 14839159], [14840884, 14840997], [14849165, 14849519]]	[[14766050, 14766225], [14767800, 14767877], [14769566, 14769661], [14772144, 14772243], [14773975, 14774150], [14774938, 14775131], [14778690, 14778849], [14781579, 14781671], [14792795, 14792884], [14794015, 14794153], [14796507, 14796640], [14798162, 14798249], [14804340, 14804445], [14804892, 14804964], [14805885, 14805948], [14809445, 14809551], [14813914, 14813996], [14822655, 14822767], [14825806, 14825892], [14827558, 14827694], [14829787, 14829905], [14832590, 14832687], [14834289, 14834411], [14835975, 14836191], [14839094, 14839159], [14840884, 14840997], [14849165, 14849382]]
ENST00000535803	[[14827225, 14827694], [14829787, 14829905], [14832590, 14832687], [14834289, 14834411], [14835975, 14836191], [14839094, 14839159], [14840884, 14840997], [14849165, 14849509]]	None
NM_004963	[[14765565, 14766225], [14767800, 14767877], [14769566, 14769661], [14772144, 14772243], [14773975, 14774150], [14774938, 14775131], [14778690, 14778849], [14781579, 14781671], [14792795, 14792884], [14794015, 14794153], [14796507, 14796640], [14798162, 14798249], [14804340, 14804445], [14804892, 14804964], [14805885, 14805948], [14809445, 14809551], [14813914, 14813996], [14822655, 14822767], [14825806, 14825892], [14827558, 14827694], [14829787, 14829905], [14832590, 14832687], [14834289, 14834411], [14835975, 14836191], [14839094, 14839159], [14840884, 14840997], [14849165, 14849519]]	[[14766050, 14766225], [14767800, 14767877], [14769566, 14769661], [14772144, 14772243], [14773975, 14774150], [14774938, 14775131], [14778690, 14778849], [14781579, 14781671], [14792795, 14792884], [14794015, 14794153], [14796507, 14796640], [14798162, 14798249], [14804340, 14804445], [14804892, 14804964], [14805885, 14805948], [14809445, 14809551], [14813914, 14813996], [14822655, 14822767], [14825806, 14825892], [14827558, 14827694], [14829787, 14829905], [14832590, 14832687], [14834289, 14834411], [14835975, 14836191], [14839094, 14839159], [14840884, 14840997], [14849165, 14849382]]

Promoter

Chrom	Start	End	Description
chr12	14849414	14849417	CAGE_peak_8_at_GUCY2C_5end
chr12	14849430	14849439	CAGE_peak_4_at_GUCY2C_5end
chr12	14849447	14849450	CAGE_peak_7_at_GUCY2C_5end
chr12	14849455	14849469	CAGE_peak_2_at_GUCY2C_5end
chr12	14849470	14849540	CAGE_peak_1_at_GUCY2C_5end
chr12	14849553	14849558	CAGE_peak_5_at_GUCY2C_5end
chr12	14849578	14849586	CAGE_peak_3_at_GUCY2C_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I014643	14643867	14644800	0.69	[{'connected_gene': 'PLBD1', 'score': 6.08}, {'connected_gene': 'GC12P014627', 'score': 0.37}, {'connected_gene': 'ENSG00000214772', 'score': 0.34}, {'connected_gene': 'GUCY2C', 'score': 0.23}]
chr12	GH12I014566	14566730	14569351	1.92	[{'connected_gene': 'PLBD1', 'score': 556.91}, {'connected_gene': 'PLBD1-AS1', 'score': 556.44}, {'connected_gene': 'GUCY2C', 'score': 19.49}, {'connected_gene': 'ATF7IP', 'score': 12.36}, {'connected_gene': 'ENSG00000261324', 'score': 11.24}, {'connected_gene': 'ENSG00000214772', 'score': 10.71}, {'connected_gene': 'WBP11', 'score': 10.53}, {'connected_gene': 'HIST4H4', 'score': 9.92}]
chr12	GH12I014613	14613171	14615519	0.99	[{'connected_gene': 'PLBD1', 'score': 16.88}, {'connected_gene': 'PLBD1-AS1', 'score': 11.52}, {'connected_gene': 'GUCY2C', 'score': 10.66}, {'connected_gene': 'GC12P014627', 'score': 0.39}]
chr12	GH12I014751	14751276	14752779	0.31	[{'connected_gene': 'GUCY2C', 'score': 22.85}, {'connected_gene': 'H2AFJ', 'score': 16.27}, {'connected_gene': 'SMCO3', 'score': 10.95}, {'connected_gene': 'C12orf60', 'score': 10.9}, {'connected_gene': 'WBP11', 'score': 10.84}, {'connected_gene': 'GC12M014736', 'score': 0.39}, {'connected_gene': 'LOC105369669', 'score': 0.37}, {'connected_gene': 'ENSG00000261324', 'score': 0.37}, {'connected_gene': 'ENSG00000214772', 'score': 0.17}]
chr12	GH12I014723	14723827	14723956	0.62	[{'connected_gene': 'GUCY2C', 'score': 11.7}, {'connected_gene': 'HIST4H4', 'score': 11.61}, {'connected_gene': 'PDE6H', 'score': 10.07}, {'connected_gene': 'GC12M014736', 'score': 0.37}, {'connected_gene': 'ENSG00000214772', 'score': 0.22}]
chr12	GH12I014619	14619215	14619276	0.46	[{'connected_gene': 'GUCY2C', 'score': 10.58}, {'connected_gene': 'GC12P014627', 'score': 0.44}, {'connected_gene': 'PLBD1-AS1', 'score': 0.23}, {'connected_gene': 'PLBD1', 'score': 0.23}]
chr12	GH12I014199	14199239	14200611	0.38	[{'connected_gene': 'GUCY2C', 'score': 4.6}, {'connected_gene': 'GC12P014194', 'score': 0.44}, {'connected_gene': 'GC12P014213', 'score': 0.39}]
chr12	GH12I014704	14704187	14704336	0.31	[{'connected_gene': 'GUCY2C', 'score': 14.38}, {'connected_gene': 'ENSG00000214772', 'score': 0.28}, {'connected_gene': 'GC12M014736', 'score': 0.28}]
chr12	GH12I014700	14700047	14700196	0.31	[{'connected_gene': 'GUCY2C', 'score': 0.77}, {'connected_gene': 'ENSG00000214772', 'score': 0.29}, {'connected_gene': 'GC12M014736', 'score': 0.28}]
chr12	GH12I014694	14694557	14696922	0.99	[{'connected_gene': 'GUCY2C', 'score': 564.97}, {'connected_gene': 'ENSG00000214772', 'score': 0.29}]
chr12	GH12I014677	14677879	14680505	0.52	[{'connected_gene': 'GUCY2C', 'score': 15.26}, {'connected_gene': 'ENSG00000214772', 'score': 0.39}]
chr12	GH12I014755	14755655	14757784	0.92	[{'connected_gene': 'C12orf60', 'score': 28.76}, {'connected_gene': 'GUCY2C', 'score': 11.02}, {'connected_gene': 'SMCO3', 'score': 10.96}, {'connected_gene': 'WBP11', 'score': 10.4}, {'connected_gene': 'ENSG00000261324', 'score': 0.39}, {'connected_gene': 'LOC105369669', 'score': 0.39}, {'connected_gene': 'GC12M014736', 'score': 0.37}, {'connected_gene': 'ENSG00000214772', 'score': 0.16}]
chr12	GH12I014710	14710527	14715836	0.74	[{'connected_gene': 'HIST4H4', 'score': 11.14}, {'connected_gene': 'GUCY2C', 'score': 6.82}, {'connected_gene': 'C12orf60', 'score': 5.03}, {'connected_gene': 'H2AFJ', 'score': 4.99}, {'connected_gene': 'GC12M014736', 'score': 0.31}, {'connected_gene': 'ENSG00000214772', 'score': 0.25}]
chr12	GH12I014577	14577400	14577636	0.89	[{'connected_gene': 'HIST4H4', 'score': 10.18}, {'connected_gene': 'GUCY2C', 'score': 9.97}, {'connected_gene': 'PLBD1-AS1', 'score': 0.44}, {'connected_gene': 'PLBD1', 'score': 0.44}, {'connected_gene': 'GC12P014627', 'score': 0.25}]
chr12	GH12I014717	14716727	14716876	0.52	[{'connected_gene': 'HIST4H4', 'score': 11.15}, {'connected_gene': 'GUCY2C', 'score': 0.34}, {'connected_gene': 'GC12M014736', 'score': 0.34}, {'connected_gene': 'ENSG00000214772', 'score': 0.23}]
chr12	GH12I014716	14716883	14717556	0.57	[{'connected_gene': 'HIST4H4', 'score': 11.15}, {'connected_gene': 'C12orf60', 'score': 10.55}, {'connected_gene': 'GUCY2C', 'score': 9.81}, {'connected_gene': 'H2AFJ', 'score': 5.25}, {'connected_gene': 'GC12M014736', 'score': 0.34}, {'connected_gene': 'ENSG00000214772', 'score': 0.23}]
chr12	GH12I014221	14221127	14221296	0.81	[{'connected_gene': 'RNU6-491P', 'score': 11.35}, {'connected_gene': 'GUCY2C', 'score': 9.46}, {'connected_gene': 'ENSG00000256084', 'score': 0.77}, {'connected_gene': 'PIR33666', 'score': 0.39}]
chr12	GH12I014219	14219136	14219823	0.31	[{'connected_gene': 'RNU6-491P', 'score': 11.33}, {'connected_gene': 'GUCY2C', 'score': 9.46}, {'connected_gene': 'ENSG00000256084', 'score': 0.77}, {'connected_gene': 'PIR33666', 'score': 0.39}]
chr12	GH12I014540	14540233	14542462	0.2	[{'connected_gene': 'PLBD1-AS1', 'score': 18.03}, {'connected_gene': 'PLBD1', 'score': 12.37}, {'connected_gene': 'GUCY2C', 'score': 10.24}, {'connected_gene': 'ERP27', 'score': 5.19}, {'connected_gene': 'LOC101928317', 'score': 0.39}, {'connected_gene': 'GC12M014554', 'score': 0.39}, {'connected_gene': 'RN7SKP134', 'score': 0.39}]
chr12	GH12I014545	14545170	14546090	0.63	[{'connected_gene': 'PLBD1-AS1', 'score': 12.31}, {'connected_gene': 'PLBD1', 'score': 12.31}, {'connected_gene': 'GUCY2C', 'score': 9.49}, {'connected_gene': 'GC12M014554', 'score': 0.44}, {'connected_gene': 'RN7SKP134', 'score': 0.44}, {'connected_gene': 'LOC101928317', 'score': 0.37}]
chr12	GH12I014665	14665607	14666403	0.54	[{'connected_gene': 'ENSG00000214772', 'score': 550.77}, {'connected_gene': 'GUCY2C', 'score': 18.28}]
chr12	GH12I014664	14664567	14664716	0.56	[{'connected_gene': 'ENSG00000214772', 'score': 550.77}, {'connected_gene': 'GUCY2C', 'score': 0.29}, {'connected_gene': 'GC12P014627', 'score': 0.28}]
chr12	GH12I014628	14628551	14630856	0.69	[{'connected_gene': 'ENSG00000261324', 'score': 15.72}, {'connected_gene': 'HIST4H4', 'score': 13.18}, {'connected_gene': 'PLBD1', 'score': 5.86}, {'connected_gene': 'GC12P014627', 'score': 0.77}, {'connected_gene': 'ENSG00000214772', 'score': 0.28}, {'connected_gene': 'GUCY2C', 'score': 0.2}]
chr12	GH12I014621	14621947	14622096	0.7	[{'connected_gene': 'ENSG00000214772', 'score': 11.1}, {'connected_gene': 'RNU6-491P', 'score': 11.05}, {'connected_gene': 'GUCY2C', 'score': 10.79}, {'connected_gene': 'GC12P014627', 'score': 0.44}, {'connected_gene': 'PLBD1', 'score': 0.23}]
chr12	GH12I014620	14619492	14621061	0.31	[{'connected_gene': 'ENSG00000214772', 'score': 11.09}, {'connected_gene': 'RNU6-491P', 'score': 11.05}, {'connected_gene': 'GUCY2C', 'score': 10.78}, {'connected_gene': 'GC12P014627', 'score': 0.44}, {'connected_gene': 'PLBD1-AS1', 'score': 0.23}, {'connected_gene': 'PLBD1', 'score': 0.23}]
chr12	GH12I014553	14553593	14555999	0.86	[{'connected_gene': 'GC12M014554', 'score': 550.77}, {'connected_gene': 'RN7SKP134', 'score': 550.77}, {'connected_gene': 'HIST4H4', 'score': 10.03}, {'connected_gene': 'GUCY2C', 'score': 8.44}, {'connected_gene': 'ERP27', 'score': 5.06}, {'connected_gene': 'PLBD1-AS1', 'score': 0.39}, {'connected_gene': 'PLBD1', 'score': 0.39}]