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
ENST00000514778	[[146402345, 146402466], [146435589, 146436084]]	[[146435765, 146436084]]
ENST00000507594	[[146402457, 146402552], [146435589, 146436052]]	[[146435765, 146436052]]
ENST00000514831	[[146402849, 146402904], [146435589, 146436103]]	[[146435765, 146436103]]
ENST00000302085	[[146402943, 146403190], [146435589, 146436165], [146460955, 146461213], [146463733, 146463850], [146467854, 146468076], [146474935, 146475192], [146478942, 146479231]]	[[146435765, 146436165], [146460955, 146461213], [146463733, 146463850], [146467854, 146468076], [146474935, 146475192], [146478942, 146479086]]
ENST00000512019	[[146403022, 146403190], [146404225, 146404328], [146435589, 146436165]]	[[146435765, 146436165]]
ENST00000503324	[[146403637, 146403859], [146435589, 146435940]]	[[146435765, 146435940]]
ENST00000515527	[[146403649, 146403972], [146435589, 146435898]]	None
ENST00000507367	[[146403943, 146404020], [146434392, 146434530], [146435589, 146435795]]	[[146435765, 146435795]]
ENST00000394092	[[146403956, 146404020], [146435589, 146436165], [146460955, 146461213], [146463733, 146463850], [146467854, 146468076], [146474935, 146475192], [146478942, 146479106]]	[[146435765, 146436165], [146460955, 146461213], [146463733, 146463850], [146467854, 146468076], [146474935, 146475192], [146478942, 146479086]]
ENST00000515385	[[146403962, 146404328], [146435589, 146436165], [146460955, 146461213], [146463733, 146463850], [146467854, 146468076], [146474935, 146475192], [146478942, 146479231]]	[[146435765, 146436165], [146460955, 146461213], [146463733, 146463850], [146467854, 146468076], [146474935, 146475192], [146478942, 146479086]]
ENST00000514168	[[146403964, 146404328], [146425003, 146425131], [146435589, 146435645]]	None
ENST00000506626	[[146405664, 146405916], [146435589, 146435855]]	None
ENST00000502342	[[146446871, 146446967], [146460955, 146461121]]	None
ENST00000511125	[[146465329, 146468076], [146474935, 146475192], [146478942, 146479231]]	None
ENST00000510948	[[146467228, 146467323], [146467854, 146468076], [146474935, 146475187]]	None
ENST00000511255	[[146467671, 146468076], [146474935, 146475069]]	None
NM_005900	[[146402950, 146403190], [146435589, 146436165], [146460955, 146461213], [146463733, 146463850], [146467854, 146468076], [146474935, 146475192], [146478942, 146480328]]	[[146435765, 146436165], [146460955, 146461213], [146463733, 146463850], [146467854, 146468076], [146474935, 146475192], [146478942, 146479086]]
NM_001003688	[[146403956, 146404020], [146435589, 146436165], [146460955, 146461213], [146463733, 146463850], [146467854, 146468076], [146474935, 146475192], [146478942, 146480328]]	[[146435765, 146436165], [146460955, 146461213], [146463733, 146463850], [146467854, 146468076], [146474935, 146475192], [146478942, 146479086]]

Promoter

Chrom	Start	End	Description
chr4	146401920	146401926	CAGE_peak_14_at_SMAD1_5end
chr4	146402557	146402563	CAGE_peak_25_at_SMAD1_5end
chr4	146402795	146402816	CAGE_peak_7_at_SMAD1_5end
chr4	146402827	146402839	CAGE_peak_10_at_SMAD1_5end
chr4	146402843	146402864	CAGE_peak_3_at_SMAD1_5end
chr4	146402925	146402957	CAGE_peak_4_at_SMAD1_5end
chr4	146402966	146402985	CAGE_peak_2_at_SMAD1_5end
chr4	146402997	146403020	CAGE_peak_1_at_SMAD1_5end
chr4	146403912	146403972	CAGE_peak_5_at_SMAD1_5end
chr4	146404119	146404158	CAGE_peak_9_at_SMAD1_5end
chr4	146404160	146404186	CAGE_peak_13_at_SMAD1_5end
chr4	146436110	146436135	CAGE_peak_6_at_SMAD1_5end
chr4	146446878	146446885	CAGE_peak_36_at_SMAD1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I145487	145487746	145488076	1	[{'connected_gene': 'OTUD4', 'score': 3.33}, {'connected_gene': 'SMAD1', 'score': 0.44}, {'connected_gene': 'SMAD1-AS2', 'score': 0.37}]
chr4	GH04I145523	145523897	145527026	0.63	[{'connected_gene': 'SMAD1', 'score': 11.71}, {'connected_gene': 'SMAD1-AS1', 'score': 0.44}, {'connected_gene': 'LOC285422', 'score': 0.21}]
chr4	GH04I145489	145489686	145490708	0.31	[{'connected_gene': 'SMAD1', 'score': 0.44}, {'connected_gene': 'SMAD1-AS2', 'score': 0.39}]
chr4	GH04I145490	145490764	145492161	0.2	[{'connected_gene': 'SMAD1', 'score': 0.39}, {'connected_gene': 'SMAD1-AS2', 'score': 0.39}]
chr4	GH04I145480	145480882	145485200	2.35	[{'connected_gene': 'SMAD1', 'score': 550.77}, {'connected_gene': 'SMAD1-AS2', 'score': 0.37}]
chr4	GH04I145281	145281561	145282908	0.31	[{'connected_gene': 'SMAD1', 'score': 10.48}, {'connected_gene': 'RPS23P4', 'score': 0.39}, {'connected_gene': 'LINC02266', 'score': 0.21}]
chr4	GH04I145283	145283392	145284813	0.59	[{'connected_gene': 'SMAD1', 'score': 10.48}, {'connected_gene': 'RPS23P4', 'score': 0.39}, {'connected_gene': 'LINC02266', 'score': 0.22}]
chr4	GH04I145275	145275411	145281364	1.31	[{'connected_gene': 'SMAD1', 'score': 10.48}, {'connected_gene': 'RPS23P4', 'score': 0.44}, {'connected_gene': 'LINC02266', 'score': 0.2}]
chr4	GH04I145413	145413497	145415583	0.43	[{'connected_gene': 'SMAD1', 'score': 11.0}, {'connected_gene': 'ENSG00000278943', 'score': 0.28}, {'connected_gene': 'NMNAT1P4', 'score': 0.26}]
chr4	GH04I145544	145544090	145547511	1	[{'connected_gene': 'MMAA', 'score': 4.47}, {'connected_gene': 'SMAD1-AS1', 'score': 0.31}, {'connected_gene': 'LOC285422', 'score': 0.26}, {'connected_gene': 'SMAD1', 'score': 0.21}]
chr4	GH04I145550	145550808	145552749	0.38	[{'connected_gene': 'SMAD1-AS1', 'score': 0.29}, {'connected_gene': 'LOC285422', 'score': 0.28}, {'connected_gene': 'SMAD1', 'score': 0.19}]
chr4	GH04I145538	145538670	145542726	0.89	[{'connected_gene': 'SMAD1-AS1', 'score': 13.12}, {'connected_gene': 'SMAD1-AS2', 'score': 13.06}, {'connected_gene': 'SMAD1', 'score': 11.99}, {'connected_gene': 'LOC285422', 'score': 0.25}]
chr4	GH04I145530	145530732	145534207	0.86	[{'connected_gene': 'SMAD1-AS2', 'score': 13.5}, {'connected_gene': 'SMAD1', 'score': 11.92}, {'connected_gene': 'OTUD4', 'score': 9.81}, {'connected_gene': 'MMAA', 'score': 4.43}, {'connected_gene': 'SMAD1-AS1', 'score': 0.37}, {'connected_gene': 'LOC285422', 'score': 0.22}]
chr4	GH04I145500	145500201	145502400	0.71	[{'connected_gene': 'SMAD1-AS2', 'score': 550.77}, {'connected_gene': 'MMAA', 'score': 4.69}, {'connected_gene': 'SMAD1', 'score': 0.34}]
chr4	GH04I145503	145503601	145503800	0.4	[{'connected_gene': 'SMAD1-AS2', 'score': 550.77}, {'connected_gene': 'SMAD1-AS1', 'score': 0.39}, {'connected_gene': 'SMAD1', 'score': 0.34}]
chr4	GH04I145506	145506473	145508758	1.05	[{'connected_gene': 'SMAD1-AS2', 'score': 0.77}, {'connected_gene': 'SMAD1-AS1', 'score': 0.44}, {'connected_gene': 'SMAD1', 'score': 0.31}]