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
ENST00000355349	[[23881946, 23882080], [23882967, 23883102], [23883215, 23883311], [23884203, 23884479], [23884589, 23884715], [23884837, 23885041], [23885212, 23885521], [23886076, 23886201], [23886361, 23886527], [23886711, 23886895], [23887418, 23887615], [23888385, 23888504], [23888691, 23888818], [23889053, 23889443], [23890166, 23890257], [23891388, 23891534], [23892755, 23892932], [23893115, 23893358], [23893977, 23894233], [23894490, 23894627], [23894903, 23895027], [23895172, 23895290], [23895985, 23896073], [23896448, 23896516], [23896793, 23897103], [23897708, 23897879], [23898163, 23898313], [23898437, 23898556], [23898983, 23899122], [23899768, 23899872], [23900109, 23900208], [23900626, 23900690], [23900793, 23900886], [23900969, 23901078], [23901687, 23901715], [23901847, 23902004], [23902292, 23902436], [23902740, 23902949], [23903402, 23903458], [23904828, 23904927]]	[[23882062, 23882080], [23882967, 23883102], [23883215, 23883311], [23884203, 23884479], [23884589, 23884715], [23884837, 23885041], [23885212, 23885521], [23886076, 23886201], [23886361, 23886527], [23886711, 23886895], [23887418, 23887615], [23888385, 23888504], [23888691, 23888818], [23889053, 23889443], [23890166, 23890257], [23891388, 23891534], [23892755, 23892932], [23893115, 23893358], [23893977, 23894233], [23894490, 23894627], [23894903, 23895027], [23895172, 23895290], [23895985, 23896073], [23896448, 23896516], [23896793, 23897103], [23897708, 23897879], [23898163, 23898313], [23898437, 23898556], [23898983, 23899122], [23899768, 23899872], [23900109, 23900208], [23900626, 23900690], [23900793, 23900886], [23900969, 23901078], [23901687, 23901715], [23901847, 23902004], [23902292, 23902436], [23902740, 23902941]]
NM_000257	[[23881946, 23882080], [23882967, 23883102], [23883215, 23883311], [23884203, 23884479], [23884589, 23884715], [23884837, 23885041], [23885212, 23885521], [23886076, 23886201], [23886361, 23886527], [23886711, 23886895], [23887418, 23887615], [23888385, 23888504], [23888691, 23888818], [23889053, 23889443], [23890166, 23890257], [23891388, 23891534], [23892755, 23892932], [23893115, 23893358], [23893977, 23894233], [23894490, 23894627], [23894903, 23895027], [23895172, 23895290], [23895985, 23896073], [23896448, 23896516], [23896793, 23897103], [23897708, 23897879], [23898163, 23898313], [23898437, 23898556], [23898983, 23899122], [23899768, 23899872], [23900109, 23900208], [23900626, 23900690], [23900793, 23900886], [23900969, 23901078], [23901687, 23901715], [23901847, 23902004], [23902292, 23902436], [23902740, 23902949], [23903402, 23903458], [23904828, 23904895]]	[[23882062, 23882080], [23882967, 23883102], [23883215, 23883311], [23884203, 23884479], [23884589, 23884715], [23884837, 23885041], [23885212, 23885521], [23886076, 23886201], [23886361, 23886527], [23886711, 23886895], [23887418, 23887615], [23888385, 23888504], [23888691, 23888818], [23889053, 23889443], [23890166, 23890257], [23891388, 23891534], [23892755, 23892932], [23893115, 23893358], [23893977, 23894233], [23894490, 23894627], [23894903, 23895027], [23895172, 23895290], [23895985, 23896073], [23896448, 23896516], [23896793, 23897103], [23897708, 23897879], [23898163, 23898313], [23898437, 23898556], [23898983, 23899122], [23899768, 23899872], [23900109, 23900208], [23900626, 23900690], [23900793, 23900886], [23900969, 23901078], [23901687, 23901715], [23901847, 23902004], [23902292, 23902436], [23902740, 23902941]]

Promoter

Chrom	Start	End	Description
chr14	23885377	23885388	CAGE_peak_32_at_MYH7_5end
chr14	23885495	23885503	CAGE_peak_24_at_MYH7_5end
chr14	23888441	23888454	CAGE_peak_22_at_MYH7_5end
chr14	23888458	23888482	CAGE_peak_16_at_MYH7_5end
chr14	23888746	23888765	CAGE_peak_20_at_MYH7_5end
chr14	23888795	23888802	CAGE_peak_35_at_MYH7_5end
chr14	23888804	23888813	CAGE_peak_27_at_MYH7_5end
chr14	23893155	23893171	CAGE_peak_7_at_MYH7_5end
chr14	23893172	23893211	CAGE_peak_4_at_MYH7_5end
chr14	23893235	23893258	CAGE_peak_5_at_MYH7_5end
chr14	23893278	23893279	CAGE_peak_41_at_MYH7_5end
chr14	23893283	23893292	CAGE_peak_18_at_MYH7_5end
chr14	23893297	23893312	CAGE_peak_15_at_MYH7_5end
chr14	23893323	23893367	CAGE_peak_3_at_MYH7_5end
chr14	23894527	23894543	CAGE_peak_11_at_MYH7_5end
chr14	23894544	23894603	CAGE_peak_2_at_MYH7_5end
chr14	23894604	23894609	CAGE_peak_33_at_MYH7_5end
chr14	23894616	23894625	CAGE_peak_21_at_MYH7_5end
chr14	23894959	23894983	CAGE_peak_12_at_MYH7_5end
chr14	23899060	23899078	CAGE_peak_17_at_MYH7_5end
chr14	23902767	23902779	CAGE_peak_13_at_MYH7_5end
chr14	23902791	23902812	CAGE_peak_14_at_MYH7_5end
chr14	23902824	23902859	CAGE_peak_6_at_MYH7_5end
chr14	23902864	23902880	CAGE_peak_9_at_MYH7_5end
chr14	23902896	23902937	CAGE_peak_8_at_MYH7_5end
chr14	23903428	23903451	CAGE_peak_19_at_MYH7_5end
chr14	23903462	23903481	CAGE_peak_10_at_MYH7_5end
chr14	23904861	23904877	CAGE_peak_1_at_MYH7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I023250	23250712	23253329	0.54	[{'connected_gene': 'BCL2L2', 'score': 11.28}, {'connected_gene': 'HOMEZ', 'score': 11.28}, {'connected_gene': 'PPP1R3E', 'score': 11.26}, {'connected_gene': 'CMTM5', 'score': 10.91}, {'connected_gene': 'CEBPE', 'score': 10.69}, {'connected_gene': 'IL25', 'score': 10.66}, {'connected_gene': 'RNF212B', 'score': 10.59}, {'connected_gene': 'SLC7A8', 'score': 10.59}, {'connected_gene': 'SLC22A17', 'score': 10.55}, {'connected_gene': 'MYH6', 'score': 10.45}, {'connected_gene': 'EFS', 'score': 10.39}, {'connected_gene': 'MIR208B', 'score': 10.2}, {'connected_gene': 'RNU6-1138P', 'score': 10.08}, {'connected_gene': 'MYH7', 'score': 9.63}, {'connected_gene': 'RNU6-1046P', 'score': 0.44}, {'connected_gene': 'RPL39P2', 'score': 0.34}]
chr14	GH14I023433	23433985	23439865	2.07	[{'connected_gene': 'MYH7', 'score': 550.77}, {'connected_gene': 'NGDN', 'score': 0.29}]
chr14	GH14I023441	23441067	23441427	0.84	[{'connected_gene': 'MYH7', 'score': 0.44}, {'connected_gene': 'NGDN', 'score': 0.31}]
chr14	GH14I023430	23430614	23431441	0.76	[{'connected_gene': 'MYH7', 'score': 0.77}, {'connected_gene': 'MIR208B', 'score': 0.39}]
chr14	GH14I023410	23410004	23410339	0.53	[{'connected_gene': 'MYH6', 'score': 573.49}, {'connected_gene': 'MYH7', 'score': 15.23}, {'connected_gene': 'MHRT', 'score': 0.44}]
chr14	GH14I023453	23453463	23455309	0.91	[{'connected_gene': 'MYH6', 'score': 11.14}, {'connected_gene': 'MIR208B', 'score': 10.81}, {'connected_gene': 'SLC22A17', 'score': 10.72}, {'connected_gene': 'MIR208A', 'score': 10.51}, {'connected_gene': 'ZFHX2-AS1', 'score': 10.4}, {'connected_gene': 'ZFHX2', 'score': 10.33}, {'connected_gene': 'BCL2L2', 'score': 9.94}, {'connected_gene': 'CMTM5', 'score': 9.82}, {'connected_gene': 'IL25', 'score': 9.81}, {'connected_gene': 'PPP1R3E', 'score': 9.75}, {'connected_gene': 'HOMEZ', 'score': 9.75}, {'connected_gene': 'NGDN', 'score': 6.88}, {'connected_gene': 'PABPN1', 'score': 5.0}, {'connected_gene': 'MYH7', 'score': 0.37}]
chr14	GH14I023442	23442285	23444220	1.29	[{'connected_gene': 'MYH6', 'score': 27.81}, {'connected_gene': 'MIR208B', 'score': 11.35}, {'connected_gene': 'CMTM5', 'score': 10.77}, {'connected_gene': 'IL25', 'score': 10.75}, {'connected_gene': 'SLC22A17', 'score': 10.69}, {'connected_gene': 'MIR208A', 'score': 10.51}, {'connected_gene': 'MYH7', 'score': 6.53}, {'connected_gene': 'NGDN', 'score': 0.31}]
chr14	GH14I023457	23457461	23458650	0.81	[{'connected_gene': 'NGDN', 'score': 0.39}, {'connected_gene': 'MYH7', 'score': 0.34}]
chr14	GH14I023468	23468601	23470579	2.06	[{'connected_gene': 'NGDN', 'score': 570.68}, {'connected_gene': 'ACIN1', 'score': 31.15}, {'connected_gene': 'PRMT5', 'score': 22.2}, {'connected_gene': 'HOMEZ', 'score': 22.07}, {'connected_gene': 'IPO4', 'score': 21.48}, {'connected_gene': 'THTPA', 'score': 19.43}, {'connected_gene': 'TSSK4', 'score': 15.5}, {'connected_gene': 'NOP9', 'score': 12.03}, {'connected_gene': 'PRMT5-AS1', 'score': 11.45}, {'connected_gene': 'RBM23', 'score': 11.23}, {'connected_gene': 'RNF31', 'score': 11.02}, {'connected_gene': 'RNA5SP383', 'score': 10.98}, {'connected_gene': 'OXA1L', 'score': 10.45}, {'connected_gene': 'NFATC4', 'score': 10.17}, {'connected_gene': 'LRP10', 'score': 9.72}, {'connected_gene': 'PABPN1', 'score': 5.03}, {'connected_gene': 'MYH7', 'score': 0.29}]
chr14	GH14I023478	23478212	23479061	0.78	[{'connected_gene': 'ZFHX2-AS1', 'score': 12.18}, {'connected_gene': 'ZFHX2', 'score': 12.06}, {'connected_gene': 'THTPA', 'score': 11.16}, {'connected_gene': 'AP1G2', 'score': 11.07}, {'connected_gene': 'MYH7', 'score': 10.6}, {'connected_gene': 'MIR208B', 'score': 10.46}, {'connected_gene': 'NGDN', 'score': 7.61}]
chr14	GH14I023445	23445509	23448631	0.66	[{'connected_gene': 'MIR208B', 'score': 11.25}, {'connected_gene': 'MYH6', 'score': 11.03}, {'connected_gene': 'SLC22A17', 'score': 10.7}, {'connected_gene': 'MIR208A', 'score': 10.46}, {'connected_gene': 'ZFHX2-AS1', 'score': 10.45}, {'connected_gene': 'ZFHX2', 'score': 10.38}, {'connected_gene': 'CMTM5', 'score': 10.29}, {'connected_gene': 'NGDN', 'score': 6.66}, {'connected_gene': 'MYH7', 'score': 0.39}]