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
ENST00000528315	[[826143, 826266], [828259, 828711]]	[[828607, 828711]]
ENST00000533803	[[826145, 826266], [828229, 828772], [828851, 828929]]	[[828607, 828772], [828851, 828929]]
ENST00000534191	[[826156, 826266], [828229, 828772], [828851, 829352]]	None
ENST00000527089	[[827247, 827459], [828259, 828772], [828851, 828950]]	[[828607, 828772], [828851, 828950]]
ENST00000534606	[[827279, 827459], [828229, 828259], [828574, 828772], [828851, 829070]]	None
ENST00000530183	[[827295, 827318], [828259, 828766]]	[[828607, 828766]]
ENST00000528542	[[827577, 827711], [828259, 828772], [828851, 828963], [829359, 829540], [829985, 830132], [830249, 830337], [830620, 830713], [831223, 831295], [831534, 831986]]	[[828607, 828772], [828851, 828963], [829359, 829540], [829985, 830132], [830249, 830337], [830620, 830713], [831223, 831295], [831534, 831561]]
ENST00000450448	[[827584, 827711], [828229, 828772], [828851, 828963], [829359, 829540], [829985, 830132], [830249, 830337], [830620, 830713], [831223, 831295], [831534, 831991]]	[[828607, 828772], [828851, 828963], [829359, 829540], [829985, 830132], [830249, 830337], [830620, 830713], [831223, 831295], [831534, 831561]]
ENST00000530737	[[828466, 828772], [828851, 829183], [829359, 829555]]	None
ENST00000525077	[[828506, 828772], [828851, 828963], [829359, 829540], [829985, 830132], [830249, 830337], [830620, 830713], [830865, 831032], [831223, 831295], [831534, 831986]]	[[828607, 828772], [828851, 828963], [829359, 829540], [829985, 830132], [830249, 830337], [830620, 830713], [830865, 831032], [831223, 831295], [831534, 831709]]
ENST00000530688	[[829296, 829540], [829967, 830132], [830249, 830337], [830620, 831295], [831534, 831985]]	None
ENST00000527763	[[829304, 829540], [829985, 830132], [830249, 830713], [830865, 831295], [831534, 831985]]	None
ENST00000528694	[[829306, 831295], [831534, 831985]]	None
ENST00000526531	[[830484, 830713], [830865, 831032], [831223, 831295], [831534, 831780]]	None
NM_173584	[[828259, 828772], [828851, 828963], [829359, 829540], [829985, 830132], [830249, 830337], [830620, 830713], [831223, 831295], [831534, 831991]]	[[828607, 828772], [828851, 828963], [829359, 829540], [829985, 830132], [830249, 830337], [830620, 830713], [831223, 831295], [831534, 831561]]
NM_001286606	[[828259, 828772], [828851, 828963], [829359, 829540], [829985, 830132], [830249, 830337], [830620, 830713], [830865, 831032], [831223, 831295], [831534, 831991]]	[[828607, 828772], [828851, 828963], [829359, 829540], [829985, 830132], [830249, 830337], [830620, 830713], [830865, 831032], [831223, 831295], [831534, 831709]]

Promoter

Chrom	Start	End	Description
chr11	826136	826180	CAGE_peak_2_at_EFCAB4A_5end
chr11	827285	827326	CAGE_peak_3_at_EFCAB4A_5end
chr11	827553	827601	CAGE_peak_4_at_EFCAB4A_5end
chr11	827604	827621	CAGE_peak_6_at_EFCAB4A_5end
chr11	827914	827930	CAGE_peak_15_at_EFCAB4A_5end
chr11	827941	827978	CAGE_peak_10_at_EFCAB4A_5end
chr11	828104	828109	CAGE_peak_32_at_EFCAB4A_5end
chr11	828151	828163	CAGE_peak_14_at_EFCAB4A_5end
chr11	829291	829313	CAGE_peak_7_at_EFCAB4A_5end
chr11	829412	829430	CAGE_peak_11_at_EFCAB4A_5end
chr11	829495	829500	CAGE_peak_23_at_EFCAB4A_5end
chr11	829538	829547	CAGE_peak_17_at_EFCAB4A_5end
chr11	829560	829573	CAGE_peak_13_at_EFCAB4A_5end
chr11	830411	830427	CAGE_peak_8_at_EFCAB4A_5end
chr11	830434	830484	CAGE_peak_1_at_EFCAB4A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I000831	831121	835628	2.17	[{'connected_gene': 'CD151', 'score': 613.06}, {'connected_gene': 'ENSG00000255108', 'score': 550.77}, {'connected_gene': 'SNORA52', 'score': 17.38}, {'connected_gene': 'TMEM80', 'score': 17.17}, {'connected_gene': 'TSPAN4', 'score': 15.48}, {'connected_gene': 'BET1L', 'score': 15.18}, {'connected_gene': 'ENSG00000255237', 'score': 14.72}, {'connected_gene': 'PHRF1', 'score': 13.1}, {'connected_gene': 'PIDD1', 'score': 10.16}, {'connected_gene': 'RPLP2', 'score': 5.73}, {'connected_gene': 'GC11M000839', 'score': 0.77}, {'connected_gene': 'CRACR2B', 'score': 0.44}]
chr11	GH11I000832	830561	830710	0.79	[{'connected_gene': 'CD151', 'score': 46.17}, {'connected_gene': 'PIR51142', 'score': 0.77}, {'connected_gene': 'CRACR2B', 'score': 0.77}, {'connected_gene': 'ENSG00000255108', 'score': 0.77}]
chr11	GH11I000807	807893	814081	2.3	[{'connected_gene': 'RPLP2', 'score': 599.14}, {'connected_gene': 'SNORA52', 'score': 576.79}, {'connected_gene': 'PIDD1', 'score': 574.4}, {'connected_gene': 'GC11P000825', 'score': 550.77}, {'connected_gene': 'GC11P000813', 'score': 550.77}, {'connected_gene': 'GC11P000812', 'score': 550.77}, {'connected_gene': 'ENSG00000255108', 'score': 46.03}, {'connected_gene': 'TMEM80', 'score': 40.53}, {'connected_gene': 'PHRF1', 'score': 29.32}, {'connected_gene': 'BET1L', 'score': 25.13}, {'connected_gene': 'TSPAN4', 'score': 15.34}, {'connected_gene': 'ENSG00000255237', 'score': 14.72}, {'connected_gene': 'ENSG00000255142', 'score': 14.6}, {'connected_gene': 'RIC8A', 'score': 12.89}, {'connected_gene': 'ENSG00000255158', 'score': 9.75}, {'connected_gene': 'CRACR2B', 'score': 5.17}, {'connected_gene': 'GC11M000811', 'score': 0.39}]
chr11	GH11I000818	818246	822879	2.19	[{'connected_gene': 'PNPLA2', 'score': 556.24}, {'connected_gene': 'RPLP2', 'score': 30.33}, {'connected_gene': 'ENSG00000255108', 'score': 28.08}, {'connected_gene': 'LOC171391', 'score': 24.57}, {'connected_gene': 'TMEM80', 'score': 14.5}, {'connected_gene': 'RIC8A', 'score': 12.89}, {'connected_gene': 'BET1L', 'score': 11.78}, {'connected_gene': 'SNORA52', 'score': 11.23}, {'connected_gene': 'PHRF1', 'score': 9.74}, {'connected_gene': 'CRACR2B', 'score': 7.74}, {'connected_gene': 'CD151', 'score': 5.58}, {'connected_gene': 'GC11M000811', 'score': 0.77}]
chr11	GH11I000803	803370	806602	1.99	[{'connected_gene': 'PIDD1', 'score': 556.22}, {'connected_gene': 'ENSG00000255108', 'score': 46.07}, {'connected_gene': 'RPLP2', 'score': 30.14}, {'connected_gene': 'LOC171391', 'score': 10.6}, {'connected_gene': 'CRACR2B', 'score': 5.25}, {'connected_gene': 'SLC25A22', 'score': 0.44}]
chr11	GH11I000788	788167	791555	1.51	[{'connected_gene': 'CEND1', 'score': 550.77}, {'connected_gene': 'ENSG00000255108', 'score': 63.36}, {'connected_gene': 'LOC171391', 'score': 10.69}, {'connected_gene': 'TMEM80', 'score': 7.3}, {'connected_gene': 'PIDD1', 'score': 5.0}, {'connected_gene': 'CRACR2B', 'score': 4.95}, {'connected_gene': 'ENSG00000255142', 'score': 0.44}, {'connected_gene': 'SLC25A22', 'score': 0.44}]
chr11	GH11I001072	1072098	1075353	1.44	[{'connected_gene': 'MUC2', 'score': 550.77}, {'connected_gene': 'PIDD1', 'score': 4.42}, {'connected_gene': 'CRACR2B', 'score': 2.14}, {'connected_gene': 'DRD4', 'score': 2.13}, {'connected_gene': 'GC11M001067', 'score': 0.77}]
chr11	GH11I000824	824121	830480	2.19	[{'connected_gene': 'CRACR2B', 'score': 559.51}, {'connected_gene': 'PIR51142', 'score': 550.77}, {'connected_gene': 'CD151', 'score': 41.24}, {'connected_gene': 'ENSG00000255108', 'score': 27.84}, {'connected_gene': 'RPLP2', 'score': 21.01}, {'connected_gene': 'LOC171391', 'score': 6.85}, {'connected_gene': 'CHID1', 'score': 4.87}, {'connected_gene': 'POLR2L', 'score': 4.69}, {'connected_gene': 'B4GALNT4', 'score': 4.26}, {'connected_gene': 'PNPLA2', 'score': 0.44}]
chr11	GH11I000975	975861	976090	0.54	[{'connected_gene': 'CRACR2B', 'score': 5.36}, {'connected_gene': 'GC11P000968', 'score': 0.44}, {'connected_gene': 'GC11M000999', 'score': 0.29}, {'connected_gene': 'AP2A2', 'score': 0.23}]
chr11	GH11I000830	830821	831030	0.77	[{'connected_gene': 'ENSG00000255108', 'score': 550.77}, {'connected_gene': 'CD151', 'score': 550.77}, {'connected_gene': 'PIR51142', 'score': 0.77}, {'connected_gene': 'CRACR2B', 'score': 0.77}]
chr11	GH11I000793	793917	798732	2.19	[{'connected_gene': 'GC11P000798', 'score': 550.77}, {'connected_gene': 'PANO1', 'score': 550.77}, {'connected_gene': 'SLC25A22', 'score': 550.77}, {'connected_gene': 'TMEM80', 'score': 12.93}, {'connected_gene': 'EPS8L2', 'score': 9.85}, {'connected_gene': 'ENSG00000255108', 'score': 5.65}, {'connected_gene': 'PIDD1', 'score': 5.25}, {'connected_gene': 'CRACR2B', 'score': 4.91}]