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
NM_203458	[[145209112, 145209436], [145248812, 145248894], [145273184, 145273444], [145281368, 145281704], [145281954, 145286270]]	[[145248856, 145248894], [145273184, 145273444], [145281368, 145281704], [145281954, 145282031]]

Promoter

Chrom	Start	End	Description
chr1	145209092	145209163	CAGE_peak_1_at_NBPF10_5end,CAGE_peak_1_at_NOTCH2NL_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I146248	146248600	146249001	0.9	[{'connected_gene': 'NOTCH2NL', 'score': 17.92}, {'connected_gene': 'NBPF10', 'score': 4.16}, {'connected_gene': 'LOC105371254', 'score': 0.37}, {'connected_gene': 'LOC105371249', 'score': 0.28}]
chr1	GH01I146241	146241579	146242590	1.25	[{'connected_gene': 'NOTCH2NL', 'score': 13.58}, {'connected_gene': 'NBPF10', 'score': 4.59}, {'connected_gene': 'LOC105371254', 'score': 0.39}, {'connected_gene': 'LOC105371249', 'score': 0.26}]
chr1	GH01I146209	146209978	146214336	1.24	[{'connected_gene': 'NOTCH2NL', 'score': 25.14}, {'connected_gene': 'NBPF10', 'score': 6.29}, {'connected_gene': 'PIR33330', 'score': 0.39}, {'connected_gene': 'ENSG00000213240', 'score': 0.37}, {'connected_gene': 'PIR39582', 'score': 0.34}]
chr1	GH01I146183	146183002	146185000	1.17	[{'connected_gene': 'GNRHR2', 'score': 4.31}, {'connected_gene': 'PIR39582', 'score': 0.44}, {'connected_gene': 'PIR37907', 'score': 0.37}, {'connected_gene': 'ENSG00000213240', 'score': 0.26}, {'connected_gene': 'NOTCH2NL', 'score': 0.25}]
chr1	GH01I146001	146001201	146002000	1.22	[{'connected_gene': 'LINC01719', 'score': 5.56}, {'connected_gene': 'NOTCH2NL', 'score': 4.9}, {'connected_gene': 'NBPF10', 'score': 1.47}, {'connected_gene': 'TXNIP', 'score': 0.77}, {'connected_gene': 'TRE-CTC1-1', 'score': 0.29}]
chr1	GH01I145976	145976966	145987599	1.84	[{'connected_gene': 'NBPF20', 'score': 41.48}, {'connected_gene': 'POLR3C', 'score': 29.92}, {'connected_gene': 'GPR89A', 'score': 26.01}, {'connected_gene': 'PIAS3', 'score': 25.15}, {'connected_gene': 'ANKRD35', 'score': 22.51}, {'connected_gene': 'HFE2', 'score': 11.82}, {'connected_gene': 'RBM8A', 'score': 11.75}, {'connected_gene': 'LIX1L-AS1', 'score': 11.74}, {'connected_gene': 'PEX11B', 'score': 11.34}, {'connected_gene': 'ENSG00000213240', 'score': 11.13}, {'connected_gene': 'GNRHR2', 'score': 11.02}, {'connected_gene': 'NOTCH2NL', 'score': 9.34}, {'connected_gene': 'LIX1L', 'score': 5.69}, {'connected_gene': 'TXNIP', 'score': 5.55}, {'connected_gene': 'ITGA10', 'score': 4.71}, {'connected_gene': 'NBPF10', 'score': 2.85}, {'connected_gene': 'CD160', 'score': 1.92}, {'connected_gene': 'GC01P145988', 'score': 0.44}, {'connected_gene': 'ANKRD34A', 'score': 0.37}, {'connected_gene': 'POLR3GL', 'score': 0.34}, {'connected_gene': 'ENSG00000280778', 'score': 0.22}]
chr1	GH01I146226	146226387	146229684	2.28	[{'connected_gene': 'ENSG00000213240', 'score': 550.77}, {'connected_gene': 'NOTCH2NL', 'score': 550.77}, {'connected_gene': 'LOC105371254', 'score': 550.77}, {'connected_gene': 'PIAS3', 'score': 46.3}, {'connected_gene': 'POLR3C', 'score': 35.18}, {'connected_gene': 'NBPF20', 'score': 34.59}, {'connected_gene': 'ENSG00000234225', 'score': 21.55}, {'connected_gene': 'GPR89A', 'score': 21.05}, {'connected_gene': 'NUDT17', 'score': 12.76}, {'connected_gene': 'PEX11B', 'score': 10.63}, {'connected_gene': 'ENSG00000237188', 'score': 10.61}, {'connected_gene': 'RBM8A', 'score': 5.4}, {'connected_gene': 'PIR33330', 'score': 0.44}]
chr1	GH01I146215	146215070	146215780	0.2	[{'connected_gene': 'PIR33330', 'score': 0.44}, {'connected_gene': 'ENSG00000213240', 'score': 0.39}, {'connected_gene': 'NOTCH2NL', 'score': 0.39}, {'connected_gene': 'PIR39582', 'score': 0.31}]
chr1	GH01I146206	146206204	146206800	0.4	[{'connected_gene': 'PIR33330', 'score': 0.37}, {'connected_gene': 'PIR39582', 'score': 0.37}, {'connected_gene': 'ENSG00000213240', 'score': 0.34}, {'connected_gene': 'NOTCH2NL', 'score': 0.34}]
chr1	GH01I146225	146223201	146223400	0.79	[{'connected_gene': 'PIR33330', 'score': 550.77}, {'connected_gene': 'ENSG00000213240', 'score': 0.44}, {'connected_gene': 'NOTCH2NL', 'score': 0.44}]
chr1	GH01I146227	146225697	146226296	0.76	[{'connected_gene': 'ENSG00000234225', 'score': 10.56}, {'connected_gene': 'ENSG00000213240', 'score': 0.77}, {'connected_gene': 'NOTCH2NL', 'score': 0.77}, {'connected_gene': 'PIR33330', 'score': 0.77}]
chr1	GH01I146153	146152148	146152257	0.85	[{'connected_gene': 'PIR60520', 'score': 550.77}, {'connected_gene': 'GC01M146153', 'score': 550.77}, {'connected_gene': 'PIR61425', 'score': 550.77}, {'connected_gene': 'PIR40634', 'score': 550.77}, {'connected_gene': 'GC01M146159', 'score': 550.77}, {'connected_gene': 'GC01M146158', 'score': 550.77}, {'connected_gene': 'GC01M146155', 'score': 550.77}, {'connected_gene': 'PIR62304', 'score': 0.77}, {'connected_gene': 'ENSG00000213240', 'score': 0.18}, {'connected_gene': 'NOTCH2NL', 'score': 0.18}]
chr1	GH01I146196	146196219	146197111	0.8	[{'connected_gene': 'PIR39582', 'score': 0.44}, {'connected_gene': 'PIR33330', 'score': 0.31}, {'connected_gene': 'ENSG00000213240', 'score': 0.29}, {'connected_gene': 'NOTCH2NL', 'score': 0.29}]
chr1	GH01I146152	146152670	146153270	0.31	[{'connected_gene': 'PIR61425', 'score': 550.77}, {'connected_gene': 'PIR62304', 'score': 550.77}, {'connected_gene': 'ENSG00000213240', 'score': 0.18}, {'connected_gene': 'NOTCH2NL', 'score': 0.18}]
chr1	GH01I146217	146217602	146219346	1.15	[{'connected_gene': 'PIR33330', 'score': 0.77}, {'connected_gene': 'ENSG00000213240', 'score': 0.39}, {'connected_gene': 'NOTCH2NL', 'score': 0.39}, {'connected_gene': 'PIR39582', 'score': 0.31}]
chr1	GH01I146168	146168312	146168681	0.49	[{'connected_gene': 'PIR37907', 'score': 0.77}, {'connected_gene': 'PIR39582', 'score': 0.34}, {'connected_gene': 'ENSG00000213240', 'score': 0.21}, {'connected_gene': 'NOTCH2NL', 'score': 0.21}]
chr1	GH01I146177	146177401	146177600	0.63	[{'connected_gene': 'PIR37907', 'score': 0.39}, {'connected_gene': 'PIR39582', 'score': 0.39}, {'connected_gene': 'ENSG00000213240', 'score': 0.23}, {'connected_gene': 'NOTCH2NL', 'score': 0.23}]
chr1	GH01I146223	146223876	146224065	0.51	[{'connected_gene': 'PIR33330', 'score': 550.77}, {'connected_gene': 'ENSG00000213240', 'score': 0.44}, {'connected_gene': 'NOTCH2NL', 'score': 0.44}]
chr1	GH01I146190	146190801	146192428	1.14	[{'connected_gene': 'PIR39582', 'score': 0.77}, {'connected_gene': 'PIR33330', 'score': 0.29}, {'connected_gene': 'ENSG00000213240', 'score': 0.28}, {'connected_gene': 'NOTCH2NL', 'score': 0.28}]
chr1	GH01I146224	146224582	146225168	0.57	[{'connected_gene': 'ENSG00000213240', 'score': 0.77}, {'connected_gene': 'NOTCH2NL', 'score': 0.77}, {'connected_gene': 'PIR33330', 'score': 0.77}]
chr1	GH01I146154	146154200	146155801	1.1	[{'connected_gene': 'PIR45313', 'score': 550.77}, {'connected_gene': 'PIR62304', 'score': 550.77}, {'connected_gene': 'ENSG00000213240', 'score': 0.19}, {'connected_gene': 'NOTCH2NL', 'score': 0.19}]
chr1	GH01I146204	146204200	146204401	0.69	[{'connected_gene': 'PIR33330', 'score': 0.37}, {'connected_gene': 'PIR39582', 'score': 0.37}, {'connected_gene': 'ENSG00000213240', 'score': 0.34}, {'connected_gene': 'NOTCH2NL', 'score': 0.34}]
chr1	GH01I146160	146160705	146160874	0.4	[{'connected_gene': 'PIR42295', 'score': 0.77}, {'connected_gene': 'PIR37907', 'score': 0.77}, {'connected_gene': 'ENSG00000213240', 'score': 0.2}, {'connected_gene': 'NOTCH2NL', 'score': 0.2}]
chr1	GH01I146172	146172573	146173096	0.2	[{'connected_gene': 'PIR37907', 'score': 0.44}, {'connected_gene': 'PIR39582', 'score': 0.37}, {'connected_gene': 'ENSG00000213240', 'score': 0.22}, {'connected_gene': 'NOTCH2NL', 'score': 0.22}]
chr1	GH01I146150	146150600	146150801	0.4	[{'connected_gene': 'PIR60520', 'score': 550.77}, {'connected_gene': 'GC01M146153', 'score': 550.77}, {'connected_gene': 'PIR61425', 'score': 550.77}, {'connected_gene': 'PIR40634', 'score': 550.77}, {'connected_gene': 'GC01M146159', 'score': 550.77}, {'connected_gene': 'GC01M146158', 'score': 550.77}, {'connected_gene': 'GC01M146155', 'score': 550.77}, {'connected_gene': 'ENSG00000213240', 'score': 0.18}, {'connected_gene': 'NOTCH2NL', 'score': 0.18}]
chr1	GH01I146178	146177801	146179600	0.51	[{'connected_gene': 'PIR37907', 'score': 0.39}, {'connected_gene': 'PIR39582', 'score': 0.39}, {'connected_gene': 'ENSG00000213240', 'score': 0.23}, {'connected_gene': 'NOTCH2NL', 'score': 0.23}]
chr1	GH01I146173	146173369	146176506	1.12	[{'connected_gene': 'ENSG00000213240', 'score': 6.22}, {'connected_gene': 'PIR37907', 'score': 0.39}, {'connected_gene': 'PIR39582', 'score': 0.39}, {'connected_gene': 'NOTCH2NL', 'score': 0.23}]
chr1	GH01I146148	146148326	146148335	0.77	[{'connected_gene': 'PIR47870', 'score': 550.77}, {'connected_gene': 'PIR60520', 'score': 0.77}, {'connected_gene': 'GC01M146153', 'score': 0.77}, {'connected_gene': 'GC01M146159', 'score': 0.77}, {'connected_gene': 'ENSG00000213240', 'score': 0.18}, {'connected_gene': 'NOTCH2NL', 'score': 0.18}]
chr1	GH01I146193	146193784	146195644	0.63	[{'connected_gene': 'PIR39582', 'score': 0.44}, {'connected_gene': 'PIR33330', 'score': 0.31}, {'connected_gene': 'ENSG00000213240', 'score': 0.29}, {'connected_gene': 'NOTCH2NL', 'score': 0.29}]
chr1	GH01I146169	146169001	146169400	0.51	[{'connected_gene': 'PIR37907', 'score': 0.77}, {'connected_gene': 'PIR39582', 'score': 0.37}, {'connected_gene': 'ENSG00000213240', 'score': 0.22}, {'connected_gene': 'NOTCH2NL', 'score': 0.22}]
chr1	GH01I146201	146201401	146201600	0.66	[{'connected_gene': 'PIR39582', 'score': 0.39}, {'connected_gene': 'PIR33330', 'score': 0.34}, {'connected_gene': 'ENSG00000213240', 'score': 0.31}, {'connected_gene': 'NOTCH2NL', 'score': 0.31}]
chr1	GH01I146220	146220384	146222800	1.16	[{'connected_gene': 'PIR33330', 'score': 550.77}, {'connected_gene': 'POLR3C', 'score': 16.9}, {'connected_gene': 'LIX1L-AS1', 'score': 15.64}, {'connected_gene': 'ENSG00000213240', 'score': 0.44}, {'connected_gene': 'NOTCH2NL', 'score': 0.44}, {'connected_gene': 'PIR39582', 'score': 0.29}]
chr1	GH01I146164	146164533	146166969	0.46	[{'connected_gene': 'PIR37907', 'score': 550.77}, {'connected_gene': 'NBPF20', 'score': 17.97}, {'connected_gene': 'PIAS3', 'score': 13.91}, {'connected_gene': 'POLR3C', 'score': 13.78}, {'connected_gene': 'PIR39582', 'score': 0.34}, {'connected_gene': 'ENSG00000213240', 'score': 0.21}, {'connected_gene': 'NOTCH2NL', 'score': 0.21}]