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
ENST00000299767	[[104324111, 104324342], [104325298, 104325401], [104326054, 104326196], [104326603, 104326720], [104327733, 104328065], [104331472, 104331584], [104332117, 104332237], [104333286, 104333403], [104335187, 104335325], [104335406, 104335484], [104335609, 104335675], [104336304, 104336574], [104336851, 104337097], [104337515, 104337652], [104340395, 104340474], [104340563, 104340719], [104341088, 104341208], [104341410, 104341704]]	[[104324293, 104324342], [104325298, 104325401], [104326054, 104326196], [104326603, 104326720], [104327733, 104328065], [104331472, 104331584], [104332117, 104332237], [104333286, 104333403], [104335187, 104335325], [104335406, 104335484], [104335609, 104335675], [104336304, 104336574], [104336851, 104337097], [104337515, 104337652], [104340395, 104340474], [104340563, 104340719], [104341088, 104341208], [104341410, 104341440]]
ENST00000548462	[[104324215, 104324342], [104325298, 104325401], [104326054, 104326196], [104326603, 104326720], [104327733, 104328065], [104331472, 104331584], [104332117, 104332237], [104333286, 104333403], [104335187, 104335325], [104335406, 104335484], [104335609, 104335675], [104336304, 104337097], [104337515, 104337652], [104340395, 104340474], [104340563, 104340719], [104341088, 104341208], [104341410, 104341705]]	None
ENST00000550479	[[104332015, 104332237], [104333286, 104333403], [104335187, 104335546]]	None
ENST00000549334	[[104323884, 104324116], [104325298, 104325401], [104326054, 104326196], [104326603, 104326707]]	[[104326154, 104326196], [104326603, 104326707]]
ENST00000548622	[[104324159, 104324342], [104325298, 104325954]]	None
ENST00000540297	[[104324187, 104324342], [104325298, 104325401], [104325488, 104325526], [104326054, 104326196], [104326603, 104326720], [104327733, 104327768]]	[[104324293, 104324342], [104325298, 104325401], [104325488, 104325498]]
ENST00000551983	[[104335611, 104335675], [104336304, 104336574], [104336851, 104337245]]	None
ENST00000552051	[[104337396, 104337652], [104340395, 104340474], [104340563, 104340719], [104341088, 104341178]]	None
ENST00000550595	[[104337573, 104337652], [104340395, 104340474], [104340563, 104340719], [104341088, 104341208], [104347163, 104347423]]	[[104337573, 104337652], [104340395, 104340474], [104340563, 104340719], [104341088, 104341208], [104347163, 104347172]]
NM_003299	[[104324111, 104324342], [104325298, 104325401], [104326054, 104326196], [104326603, 104326720], [104327733, 104328065], [104331472, 104331584], [104332117, 104332237], [104333286, 104333403], [104335187, 104335325], [104335406, 104335484], [104335609, 104335675], [104336304, 104336574], [104336851, 104337097], [104337515, 104337652], [104340395, 104340474], [104340563, 104340719], [104341088, 104341208], [104341410, 104341708]]	[[104324293, 104324342], [104325298, 104325401], [104326054, 104326196], [104326603, 104326720], [104327733, 104328065], [104331472, 104331584], [104332117, 104332237], [104333286, 104333403], [104335187, 104335325], [104335406, 104335484], [104335609, 104335675], [104336304, 104336574], [104336851, 104337097], [104337515, 104337652], [104340395, 104340474], [104340563, 104340719], [104341088, 104341208], [104341410, 104341440]]

Promoter

Chrom	Start	End	Description
chr12	104324152	104324196	CAGE_peak_1_at_HSP90B1_5end
chr12	104324239	104324284	CAGE_peak_2_at_HSP90B1_5end
chr12	104325063	104325076	CAGE_peak_25_at_HSP90B1_5end
chr12	104325341	104325369	CAGE_peak_6_at_HSP90B1_5end
chr12	104331518	104331524	CAGE_peak_22_at_HSP90B1_5end
chr12	104335611	104335634	CAGE_peak_8_at_HSP90B1_5end
chr12	104337515	104337541	CAGE_peak_3_at_HSP90B1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I103955	103955644	103958248	2.12	[{'connected_gene': 'C12orf73', 'score': 563.56}, {'connected_gene': 'TDG', 'score': 14.89}, {'connected_gene': 'TTC41P', 'score': 12.37}, {'connected_gene': 'HSP90B1', 'score': 12.37}, {'connected_gene': 'GC12P103942', 'score': 0.39}]
chr12	GH12I103848	103848965	103849602	0.58	[{'connected_gene': 'C12orf73', 'score': 8.41}, {'connected_gene': 'NT5DC3', 'score': 6.16}, {'connected_gene': 'ENSG00000257327', 'score': 0.44}, {'connected_gene': 'TTC41P', 'score': 0.18}, {'connected_gene': 'HSP90B1', 'score': 0.18}]
chr12	GH12I103968	103968836	103970167	0.59	[{'connected_gene': 'C12orf73', 'score': 13.22}, {'connected_gene': 'TTC41P', 'score': 10.96}, {'connected_gene': 'HSP90B1', 'score': 10.96}, {'connected_gene': 'TDG', 'score': 0.77}, {'connected_gene': 'GC12P104022', 'score': 0.23}]
chr12	GH12I103855	103855167	103856390	1.05	[{'connected_gene': 'C12orf73', 'score': 8.82}, {'connected_gene': 'ENSG00000257681', 'score': 5.62}, {'connected_gene': 'ENSG00000257327', 'score': 0.39}, {'connected_gene': 'TTC41P', 'score': 0.19}, {'connected_gene': 'HSP90B1', 'score': 0.19}]
chr12	GH12I103936	103936620	103936774	0.46	[{'connected_gene': 'TDG', 'score': 5.77}, {'connected_gene': 'C12orf73', 'score': 5.21}, {'connected_gene': 'HSP90B1', 'score': 0.44}, {'connected_gene': 'MIR3652', 'score': 0.44}, {'connected_gene': 'GC12P103942', 'score': 0.44}]
chr12	GH12I103964	103964391	103967512	2.11	[{'connected_gene': 'TDG', 'score': 600.16}, {'connected_gene': 'C12orf73', 'score': 563.48}, {'connected_gene': 'NFYB', 'score': 11.8}, {'connected_gene': 'TTC41P', 'score': 10.96}, {'connected_gene': 'HSP90B1', 'score': 10.96}, {'connected_gene': 'GC12P104022', 'score': 0.22}]
chr12	GH12I103858	103858152	103861135	1.56	[{'connected_gene': 'TDG', 'score': 21.63}, {'connected_gene': 'TTC41P', 'score': 11.58}, {'connected_gene': 'C12orf73', 'score': 10.39}, {'connected_gene': 'NT5DC3', 'score': 5.26}, {'connected_gene': 'ENSG00000257327', 'score': 0.37}, {'connected_gene': 'HSP90B1', 'score': 0.19}]
chr12	GH12I103843	103843667	103845227	0.31	[{'connected_gene': 'NT5DC3', 'score': 9.81}, {'connected_gene': 'TTC41P', 'score': 9.03}, {'connected_gene': 'C12orf73', 'score': 5.1}, {'connected_gene': 'ENSG00000257327', 'score': 0.77}, {'connected_gene': 'HSP90B1', 'score': 0.17}]
chr12	GH12I103915	103915130	103916134	0.2	[{'connected_gene': 'NT5DC3', 'score': 11.02}, {'connected_gene': 'TTC41P', 'score': 10.63}, {'connected_gene': 'HSP90B1', 'score': 0.39}, {'connected_gene': 'ENSG00000257327', 'score': 0.19}]
chr12	GH12I103909	103909003	103909152	0.31	[{'connected_gene': 'NT5DC3', 'score': 6.18}, {'connected_gene': 'TTC41P', 'score': 0.34}, {'connected_gene': 'HSP90B1', 'score': 0.34}, {'connected_gene': 'ENSG00000257327', 'score': 0.2}]
chr12	GH12I103960	103960236	103961939	0.79	[{'connected_gene': 'TTC41P', 'score': 19.2}, {'connected_gene': 'C12orf73', 'score': 14.19}, {'connected_gene': 'HSP90B1', 'score': 12.35}, {'connected_gene': 'NT5DC3', 'score': 6.35}, {'connected_gene': 'GC12P103942', 'score': 0.37}]
chr12	GH12I103925	103925039	103925788	1.09	[{'connected_gene': 'TTC41P', 'score': 11.01}, {'connected_gene': 'C12orf73', 'score': 6.34}, {'connected_gene': 'HSP90B1', 'score': 0.77}, {'connected_gene': 'ENSG00000257327', 'score': 0.18}]
chr12	GH12I103884	103884383	103884532	0.56	[{'connected_gene': 'TTC41P', 'score': 11.76}, {'connected_gene': 'HSP90B1', 'score': 11.76}, {'connected_gene': 'C12orf73', 'score': 7.28}, {'connected_gene': 'ENSG00000257327', 'score': 0.26}]
chr12	GH12I103905	103905857	103906759	0.68	[{'connected_gene': 'TTC41P', 'score': 21.1}, {'connected_gene': 'HSP90B1', 'score': 11.77}, {'connected_gene': 'TDG', 'score': 10.89}, {'connected_gene': 'C12orf73', 'score': 6.84}, {'connected_gene': 'ENSG00000257327', 'score': 0.21}]
chr12	GH12I103907	103907510	103907893	0.85	[{'connected_gene': 'TTC41P', 'score': 11.77}, {'connected_gene': 'HSP90B1', 'score': 11.77}, {'connected_gene': 'TDG', 'score': 10.99}, {'connected_gene': 'NT5DC3', 'score': 10.17}, {'connected_gene': 'ENSG00000257327', 'score': 0.2}]
chr12	GH12I103883	103883023	103883172	0.54	[{'connected_gene': 'TTC41P', 'score': 11.94}, {'connected_gene': 'HSP90B1', 'score': 11.94}, {'connected_gene': 'TDG', 'score': 10.91}, {'connected_gene': 'ENSG00000257327', 'score': 0.26}]
chr12	GH12I103879	103879888	103882020	0.81	[{'connected_gene': 'TTC41P', 'score': 25.26}, {'connected_gene': 'HSP90B1', 'score': 11.94}, {'connected_gene': 'NT5DC3', 'score': 11.09}, {'connected_gene': 'TDG', 'score': 10.91}, {'connected_gene': 'C12orf73', 'score': 4.8}, {'connected_gene': 'ENSG00000257327', 'score': 0.28}]
chr12	GH12I103904	103904083	103904232	0.31	[{'connected_gene': 'TTC41P', 'score': 11.36}, {'connected_gene': 'HSP90B1', 'score': 11.36}, {'connected_gene': 'NT5DC3', 'score': 9.93}, {'connected_gene': 'ENSG00000257327', 'score': 0.21}]
chr12	GH12I103927	103927133	103933562	2.3	[{'connected_gene': 'TTC41P', 'score': 561.01}, {'connected_gene': 'HSP90B1', 'score': 550.77}, {'connected_gene': 'MIR3652', 'score': 550.77}, {'connected_gene': 'GC12P103934', 'score': 550.77}, {'connected_gene': 'GC12P103932', 'score': 550.77}, {'connected_gene': 'TDG', 'score': 19.2}, {'connected_gene': 'RPL18AP3', 'score': 10.94}, {'connected_gene': 'C12orf73', 'score': 10.08}, {'connected_gene': 'NT5DC3', 'score': 6.31}, {'connected_gene': 'ENSG00000257681', 'score': 5.73}]
chr12	GH12I103867	103867700	103868936	0.51	[{'connected_gene': 'TTC41P', 'score': 13.49}, {'connected_gene': 'NT5DC3', 'score': 11.32}, {'connected_gene': 'ENSG00000212594', 'score': 9.43}, {'connected_gene': 'C12orf73', 'score': 6.78}, {'connected_gene': 'ENSG00000257681', 'score': 5.79}, {'connected_gene': 'ENSG00000257327', 'score': 0.31}, {'connected_gene': 'HSP90B1', 'score': 0.21}]
chr12	GH12I103900	103900690	103903765	0.31	[{'connected_gene': 'TTC41P', 'score': 21.87}, {'connected_gene': 'NT5DC3', 'score': 15.83}, {'connected_gene': 'HSP90B1', 'score': 11.36}, {'connected_gene': 'C12orf73', 'score': 6.84}, {'connected_gene': 'ENSG00000257327', 'score': 0.21}]
chr12	GH12I103878	103878023	103878212	0.77	[{'connected_gene': 'TTC41P', 'score': 24.24}, {'connected_gene': 'NT5DC3', 'score': 11.09}, {'connected_gene': 'HSP90B1', 'score': 10.95}, {'connected_gene': 'TDG', 'score': 10.84}, {'connected_gene': 'ENSG00000257327', 'score': 0.28}]