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
ENST00000342947	[[24737971, 24738878], [24742378, 24742452], [24745802, 24745995], [24747745, 24747873], [24749842, 24750007], [24756872, 24756993], [24758665, 24758837], [24784180, 24784373], [24789182, 24789412], [24797325, 24797732]]	[[24738644, 24738878], [24742378, 24742452], [24745802, 24745995], [24747745, 24747873], [24749842, 24750007], [24756872, 24756993], [24758665, 24758837], [24784180, 24784373], [24789182, 24789393]]
ENST00000419307	[[24737973, 24738878], [24742378, 24742452], [24745802, 24745995], [24747745, 24747873], [24749842, 24750007], [24756872, 24756993], [24758665, 24758837], [24784180, 24784373], [24797325, 24797639]]	[[24738644, 24738878], [24742378, 24742452], [24745802, 24745995], [24747745, 24747873], [24749842, 24750007], [24756872, 24756993], [24758665, 24758749]]
ENST00000545231	[[24737976, 24738878], [24742378, 24742452], [24745802, 24745995], [24747745, 24747873], [24749842, 24750007], [24756872, 24756993], [24758665, 24758837], [24784180, 24784373], [24789182, 24789412], [24800949, 24801058], [24801747, 24801859], [24808825, 24809244]]	[[24738644, 24738878], [24742378, 24742452], [24745802, 24745995], [24747745, 24747873], [24749842, 24750007], [24756872, 24756993], [24758665, 24758749]]
ENST00000409970	[[24737999, 24738878], [24742378, 24742452], [24745802, 24745995], [24747745, 24747873], [24749842, 24750007], [24756872, 24756993], [24758665, 24758837], [24784180, 24784373], [24797014, 24797094]]	[[24738644, 24738878], [24742378, 24742452], [24745802, 24745995], [24747745, 24747873], [24749842, 24750007], [24756872, 24756993], [24758665, 24758749]]
ENST00000409775	[[24738613, 24738878], [24742378, 24742452], [24745802, 24745995], [24747745, 24747873], [24749842, 24750007], [24756872, 24756993], [24758665, 24758837], [24784180, 24784373], [24789182, 24789412], [24797014, 24797162]]	[[24738644, 24738878], [24742378, 24742452], [24745802, 24745995], [24747745, 24747873], [24749842, 24750007], [24756872, 24756993], [24758665, 24758837], [24784180, 24784373], [24789182, 24789393]]
ENST00000411476	[[24747853, 24747873], [24749842, 24750007], [24755109, 24755192], [24756872, 24756993], [24758665, 24758837], [24784180, 24784353]]	[[24749905, 24750007], [24755109, 24755192], [24756872, 24756993], [24758665, 24758837], [24784180, 24784353]]
ENST00000493723	[[24756087, 24756993], [24758665, 24758837], [24784180, 24784373], [24789182, 24789412]]	None
ENST00000414428	[[24758693, 24758837], [24784180, 24784373], [24797325, 24797559]]	[[24758693, 24758749]]
ENST00000479636	[[24737974, 24738878], [24742378, 24745656]]	None
ENST00000430096	[[24742045, 24742452], [24745802, 24745845]]	[[24742327, 24742452], [24745802, 24745845]]
ENST00000415480	[[24746897, 24747041], [24747745, 24747873], [24749842, 24750007], [24756872, 24756935]]	[[24746930, 24747041], [24747745, 24747873], [24749842, 24750007], [24756872, 24756935]]
ENST00000446822	[[24746898, 24747044], [24747745, 24747873], [24749842, 24750007], [24756872, 24756993], [24758665, 24758715]]	[[24746930, 24747044], [24747745, 24747873], [24749842, 24750007], [24756872, 24756993], [24758665, 24758715]]
ENST00000469133	[[24747654, 24747873], [24749842, 24750206]]	None
ENST00000559637	[[24749842, 24750007], [24756872, 24756993], [24758665, 24758837], [24764304, 24764403]]	None
ENST00000473990	[[24782963, 24784373], [24789182, 24789413]]	None

Promoter

Chrom	Start	End	Description
chr7	24797032	24797090	CAGE_peak_1_at_DFNA5_5end
chr7	24797468	24797477	CAGE_peak_7_at_DFNA5_5end
chr7	24797517	24797528	CAGE_peak_6_at_DFNA5_5end
chr7	24797546	24797611	CAGE_peak_2_at_DFNA5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I025123	25123761	25127856	2.09	[{'connected_gene': 'CYCS', 'score': 559.49}, {'connected_gene': 'GSDME', 'score': 9.61}, {'connected_gene': 'OSBPL3', 'score': 4.87}, {'connected_gene': 'PIR56122', 'score': 0.44}, {'connected_gene': 'C7orf31', 'score': 0.23}]
chr7	GH07I024774	24774242	24774369	0.33	[{'connected_gene': 'MPP6', 'score': 4.7}, {'connected_gene': 'OSBPL3', 'score': 1.51}, {'connected_gene': 'GSDME', 'score': 0.37}, {'connected_gene': 'SNRPCP19', 'score': 0.12}]
chr7	GH07I024572	24572019	24575324	1.86	[{'connected_gene': 'MPP6', 'score': 561.98}, {'connected_gene': 'GSDME', 'score': 6.49}, {'connected_gene': 'SUMO2P14', 'score': 0.37}]
chr7	GH07I024700	24700062	24700417	0.42	[{'connected_gene': 'MPP6', 'score': 18.76}, {'connected_gene': 'GSDME', 'score': 12.98}, {'connected_gene': 'GC07M024702', 'score': 0.77}, {'connected_gene': 'ENSG00000271330', 'score': 0.31}]
chr7	GH07I024751	24751928	24753070	0.2	[{'connected_gene': 'MPP6', 'score': 12.89}, {'connected_gene': 'GSDME', 'score': 10.41}, {'connected_gene': 'PIR41431', 'score': 0.28}]
chr7	GH07I024732	24732454	24734531	1.26	[{'connected_gene': 'MPP6', 'score': 16.83}, {'connected_gene': 'GSDME', 'score': 14.98}, {'connected_gene': 'PIR41431', 'score': 0.37}]
chr7	GH07I024668	24668520	24671093	0.86	[{'connected_gene': 'MPP6', 'score': 36.38}, {'connected_gene': 'RNU6-1103P', 'score': 10.04}, {'connected_gene': 'GSDME', 'score': 9.56}, {'connected_gene': 'ENSG00000271330', 'score': 0.77}, {'connected_gene': 'SUMO2P14', 'score': 0.18}]
chr7	GH07I025073	25073486	25073752	0.52	[{'connected_gene': 'OSBPL3', 'score': 11.33}, {'connected_gene': 'GSDME', 'score': 10.0}, {'connected_gene': 'GC07P025051', 'score': 0.34}, {'connected_gene': 'GC07P025032', 'score': 0.26}, {'connected_gene': 'CYCS', 'score': 0.23}]
chr7	GH07I024819	24819842	24823524	1.73	[{'connected_gene': 'OSBPL3', 'score': 21.87}, {'connected_gene': 'GSDME', 'score': 9.11}, {'connected_gene': 'C7orf31', 'score': 2.58}, {'connected_gene': 'SNRPCP19', 'score': 0.18}]
chr7	GH07I024824	24824297	24835071	1.57	[{'connected_gene': 'OSBPL3', 'score': 22.32}, {'connected_gene': 'GSDME', 'score': 6.09}, {'connected_gene': 'C7orf31', 'score': 1.7}, {'connected_gene': 'SNRPCP19', 'score': 0.18}]
chr7	GH07I024920	24920411	24923938	1.47	[{'connected_gene': 'OSBPL3', 'score': 11.16}, {'connected_gene': 'GSDME', 'score': 6.4}, {'connected_gene': 'SNRPCP19', 'score': 0.37}]
chr7	GH07I024877	24877692	24878484	0.66	[{'connected_gene': 'OSBPL3', 'score': 11.81}, {'connected_gene': 'GSDME', 'score': 9.67}, {'connected_gene': 'SNRPCP19', 'score': 0.31}]
chr7	GH07I024841	24841892	24844291	1.16	[{'connected_gene': 'OSBPL3', 'score': 11.88}, {'connected_gene': 'GSDME', 'score': 9.8}, {'connected_gene': 'SNRPCP19', 'score': 0.21}]
chr7	GH07I024852	24852022	24852171	0.56	[{'connected_gene': 'OSBPL3', 'score': 11.3}, {'connected_gene': 'GSDME', 'score': 9.85}, {'connected_gene': 'SNRPCP19', 'score': 0.23}]
chr7	GH07I024882	24882602	24884011	0.77	[{'connected_gene': 'OSBPL3', 'score': 20.03}, {'connected_gene': 'SNRPCP19', 'score': 0.34}, {'connected_gene': 'GSDME', 'score': 0.13}]
chr7	GH07I024892	24892604	24892663	0.5	[{'connected_gene': 'OSBPL3', 'score': 561.25}, {'connected_gene': 'SNRPCP19', 'score': 0.39}, {'connected_gene': 'GSDME', 'score': 0.12}]
chr7	GH07I024894	24894962	24895111	0.54	[{'connected_gene': 'OSBPL3', 'score': 11.92}, {'connected_gene': 'SNRPCP19', 'score': 0.39}, {'connected_gene': 'GSDME', 'score': 0.12}]
chr7	GH07I024895	24895823	24896895	0.94	[{'connected_gene': 'OSBPL3', 'score': 11.92}, {'connected_gene': 'SNRPCP19', 'score': 0.39}, {'connected_gene': 'GSDME', 'score': 0.12}]
chr7	GH07I024898	24898302	24899569	0.83	[{'connected_gene': 'OSBPL3', 'score': 11.93}, {'connected_gene': 'SNRPCP19', 'score': 0.44}, {'connected_gene': 'GSDME', 'score': 0.11}]
chr7	GH07I024893	24892480	24892539	0.5	[{'connected_gene': 'OSBPL3', 'score': 561.25}, {'connected_gene': 'SNRPCP19', 'score': 0.39}, {'connected_gene': 'GSDME', 'score': 0.12}]
chr7	GH07I024902	24902582	24903774	0.38	[{'connected_gene': 'OSBPL3', 'score': 5.34}, {'connected_gene': 'SNRPCP19', 'score': 0.77}, {'connected_gene': 'GSDME', 'score': 0.11}]
chr7	GH07I025084	25084692	25085305	0.43	[{'connected_gene': 'GSDME', 'score': 10.43}, {'connected_gene': 'GC07P025051', 'score': 0.29}, {'connected_gene': 'CYCS', 'score': 0.26}]
chr7	GH07I024707	24707647	24709825	0.38	[{'connected_gene': 'GSDME', 'score': 22.94}, {'connected_gene': 'MPP6', 'score': 16.92}, {'connected_gene': 'OSBPL3', 'score': 5.34}, {'connected_gene': 'GC07M024702', 'score': 0.77}, {'connected_gene': 'PIR41431', 'score': 0.44}]
chr7	GH07I024725	24725302	24727291	0.73	[{'connected_gene': 'GSDME', 'score': 21.48}, {'connected_gene': 'MPP6', 'score': 16.84}, {'connected_gene': 'OSBPL3', 'score': 5.35}, {'connected_gene': 'PIR41431', 'score': 0.39}]
chr7	GH07I024778	24778073	24780145	1.4	[{'connected_gene': 'GSDME', 'score': 8.31}, {'connected_gene': 'MPP6', 'score': 7.46}, {'connected_gene': 'C7orf31', 'score': 1.17}, {'connected_gene': 'SNRPCP19', 'score': 0.13}]
chr7	GH07I024753	24753879	24758606	2.38	[{'connected_gene': 'GSDME', 'score': 578.83}, {'connected_gene': 'MPP6', 'score': 14.78}, {'connected_gene': 'C7orf31', 'score': 1.32}, {'connected_gene': 'PIR41431', 'score': 0.26}]
chr7	GH07I024718	24718209	24720425	0.72	[{'connected_gene': 'GSDME', 'score': 23.52}, {'connected_gene': 'MPP6', 'score': 16.83}, {'connected_gene': 'PIR41431', 'score': 0.77}]
chr7	GH07I025027	25027318	25030020	1.3	[{'connected_gene': 'GSDME', 'score': 9.51}, {'connected_gene': 'OSBPL3', 'score': 6.49}, {'connected_gene': 'GC07P025032', 'score': 0.77}]
chr7	GH07I024740	24740498	24743960	1.27	[{'connected_gene': 'GSDME', 'score': 31.81}, {'connected_gene': 'OSBPL3', 'score': 5.35}, {'connected_gene': 'PIR41431', 'score': 0.31}]
chr7	GH07I024788	24788019	24790287	0.93	[{'connected_gene': 'GSDME', 'score': 31.34}, {'connected_gene': 'C7orf31', 'score': 1.25}, {'connected_gene': 'SNRPCP19', 'score': 0.13}]
chr7	GH07I024783	24783761	24784035	0.3	[{'connected_gene': 'GSDME', 'score': 19.52}, {'connected_gene': 'C7orf31', 'score': 1.51}, {'connected_gene': 'SNRPCP19', 'score': 0.13}]
chr7	GH07I024786	24786186	24787893	1.23	[{'connected_gene': 'GSDME', 'score': 16.27}, {'connected_gene': 'C7orf31', 'score': 1.73}, {'connected_gene': 'SNRPCP19', 'score': 0.13}]
chr7	GH07I024845	24845738	24848143	0.54	[{'connected_gene': 'GSDME', 'score': 9.86}, {'connected_gene': 'SNRPCP19', 'score': 0.22}, {'connected_gene': 'OSBPL3', 'score': 0.12}]
chr7	GH07I024812	24812442	24812611	0.66	[{'connected_gene': 'GSDME', 'score': 17.5}, {'connected_gene': 'SNRPCP19', 'score': 0.16}, {'connected_gene': 'OSBPL3', 'score': 0.1}]
chr7	GH07I024764	24764943	24766048	0.9	[{'connected_gene': 'GSDME', 'score': 16.15}, {'connected_gene': 'SNRPCP19', 'score': 0.11}]
chr7	GH07I024763	24763470	24763802	1.01	[{'connected_gene': 'GSDME', 'score': 9.05}, {'connected_gene': 'SNRPCP19', 'score': 0.11}]
chr7	GH07I024784	24784547	24784648	0.29	[{'connected_gene': 'GSDME', 'score': 2.86}, {'connected_gene': 'SNRPCP19', 'score': 0.13}]
chr7	GH07I024789	24788009	24788017	0.38	[{'connected_gene': 'GSDME', 'score': 0.31}, {'connected_gene': 'SNRPCP19', 'score': 0.13}]
chr7	GH07I024795	24795055	24795417	0.78	[{'connected_gene': 'GSDME', 'score': 0.28}, {'connected_gene': 'SNRPCP19', 'score': 0.14}]
chr7	GH07I025048	25048001	25048200	0.38	[{'connected_gene': 'GSDME', 'score': 10.54}, {'connected_gene': 'GC07P025051', 'score': 0.77}, {'connected_gene': 'GC07P025032', 'score': 0.37}]
chr7	GH07I024721	24721802	24721971	0.76	[{'connected_gene': 'GSDME', 'score': 11.21}, {'connected_gene': 'PIR41431', 'score': 0.44}]
chr7	GH07I024723	24723062	24723171	0.56	[{'connected_gene': 'GSDME', 'score': 11.22}, {'connected_gene': 'PIR41431', 'score': 0.44}]
chr7	GH07I024722	24722842	24722907	0.49	[{'connected_gene': 'GSDME', 'score': 11.21}, {'connected_gene': 'PIR41431', 'score': 0.44}]
chr7	GH07I024754	24753335	24753403	0.2	[{'connected_gene': 'GSDME', 'score': 0.77}, {'connected_gene': 'PIR41431', 'score': 0.28}]
chr7	GH07I024738	24738398	24740019	0.43	[{'connected_gene': 'GSDME', 'score': 13.33}, {'connected_gene': 'PIR41431', 'score': 0.34}]
chr7	GH07I024750	24750862	24751011	0.51	[{'connected_gene': 'GSDME', 'score': 0.44}, {'connected_gene': 'PIR41431', 'score': 0.28}]
chr7	GH07I024728	24728630	24729365	0.66	[{'connected_gene': 'GSDME', 'score': 11.02}, {'connected_gene': 'PIR41431', 'score': 0.39}]
chr7	GH07I024794	24794401	24794600	0.82	[{'connected_gene': 'C7orf31', 'score': 11.4}, {'connected_gene': 'GSDME', 'score': 5.77}, {'connected_gene': 'MPP6', 'score': 4.85}, {'connected_gene': 'SNRPCP19', 'score': 0.14}]
chr7	GH07I024900	24900982	24902419	0.88	[{'connected_gene': 'SNRPCP19', 'score': 0.77}, {'connected_gene': 'OSBPL3', 'score': 0.18}, {'connected_gene': 'GSDME', 'score': 0.11}]
chr7	GH07I024835	24835595	24837075	1.25	[{'connected_gene': 'SNRPCP19', 'score': 0.19}, {'connected_gene': 'GSDME', 'score': 0.18}, {'connected_gene': 'OSBPL3', 'score': 0.11}]
chr7	GH07I024701	24700558	24704001	0.66	[{'connected_gene': 'GC07M024702', 'score': 550.77}, {'connected_gene': 'MPP6', 'score': 24.47}, {'connected_gene': 'GSDME', 'score': 19.67}, {'connected_gene': 'OSBPL3', 'score': 5.43}, {'connected_gene': 'ENSG00000271330', 'score': 0.31}]
chr7	GH07I024715	24715540	24717316	0.76	[{'connected_gene': 'PIR41431', 'score': 550.77}, {'connected_gene': 'MPP6', 'score': 22.8}, {'connected_gene': 'GSDME', 'score': 19.81}]