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
ENST00000375078	[[20808883, 20810212], [20811706, 20812713]]	[[20810141, 20810212], [20811706, 20811872]]
ENST00000489020	[[20809679, 20810212], [20810859, 20811138]]	None
NM_018584	[[20808883, 20810212], [20811706, 20812728]]	[[20810141, 20810212], [20811706, 20811872]]

Promoter

Chrom	Start	End	Description
chr1	20809702	20809746	CAGE_peak_5_at_CAMK2N1_5end
chr1	20809753	20809764	CAGE_peak_13_at_CAMK2N1_5end
chr1	20809766	20809776	CAGE_peak_14_at_CAMK2N1_5end
chr1	20809946	20809965	CAGE_peak_9_at_CAMK2N1_5end
chr1	20810097	20810129	CAGE_peak_11_at_CAMK2N1_5end
chr1	20810135	20810150	CAGE_peak_12_at_CAMK2N1_5end
chr1	20810152	20810169	CAGE_peak_15_at_CAMK2N1_5end
chr1	20810185	20810219	CAGE_peak_10_at_CAMK2N1_5end
chr1	20811131	20811213	CAGE_peak_7_at_CAMK2N1_5end
chr1	20812103	20812122	CAGE_peak_2_at_CAMK2N1_5end
chr1	20812134	20812149	CAGE_peak_3_at_CAMK2N1_5end
chr1	20812161	20812170	CAGE_peak_6_at_CAMK2N1_5end
chr1	20812315	20812327	CAGE_peak_4_at_CAMK2N1_5end
chr1	20812690	20812763	CAGE_peak_1_at_CAMK2N1_5end
chr1	20813172	20813182	CAGE_peak_19_at_CAMK2N1_5end
chr1	20813184	20813200	CAGE_peak_16_at_CAMK2N1_5end
chr1	20813209	20813232	CAGE_peak_8_at_CAMK2N1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I020624	20624464	20626889	0.54	[{'connected_gene': 'CDA', 'score': 22.73}, {'connected_gene': 'PINK1', 'score': 5.43}, {'connected_gene': 'CAMK2N1', 'score': 5.08}, {'connected_gene': 'GC01P020619', 'score': 0.44}]
chr1	GH01I020823	20823189	20823305	0.25	[{'connected_gene': 'EIF4G3', 'score': 1.85}, {'connected_gene': 'CAMK2N1', 'score': 1.53}, {'connected_gene': 'RNU7-200P', 'score': 0.37}, {'connected_gene': 'HP1BP3', 'score': 0.28}, {'connected_gene': 'GC01P020738', 'score': 0.17}]
chr1	GH01I020464	20464729	20466480	0.43	[{'connected_gene': 'MUL1', 'score': 40.38}, {'connected_gene': 'CAMK2N1', 'score': 11.68}, {'connected_gene': 'FAM43B', 'score': 9.91}, {'connected_gene': 'ENSG00000284641', 'score': 0.39}, {'connected_gene': 'LINC01141', 'score': 0.29}]
chr1	GH01I020461	20461141	20463799	0.52	[{'connected_gene': 'MUL1', 'score': 29.88}, {'connected_gene': 'CAMK2N1', 'score': 11.55}, {'connected_gene': 'VWA5B1', 'score': 10.5}, {'connected_gene': 'ENSG00000284641', 'score': 0.39}, {'connected_gene': 'LINC01141', 'score': 0.29}]
chr1	GH01I020488	20488130	20489239	0.31	[{'connected_gene': 'MUL1', 'score': 10.08}, {'connected_gene': 'FAM43B', 'score': 6.97}, {'connected_gene': 'CAMK2N1', 'score': 0.77}, {'connected_gene': 'GC01M020501', 'score': 0.39}, {'connected_gene': 'PIR53014', 'score': 0.39}]
chr1	GH01I020440	20440473	20442803	0.78	[{'connected_gene': 'CAMK2N1', 'score': 15.7}, {'connected_gene': 'MUL1', 'score': 10.76}, {'connected_gene': 'ENSG00000226664', 'score': 9.86}, {'connected_gene': 'LINC01141', 'score': 0.39}, {'connected_gene': 'ENSG00000284641', 'score': 0.29}]
chr1	GH01I020442	20442968	20443117	0.58	[{'connected_gene': 'CAMK2N1', 'score': 11.16}, {'connected_gene': 'MUL1', 'score': 10.79}, {'connected_gene': 'FAM43B', 'score': 10.75}, {'connected_gene': 'ENSG00000226664', 'score': 10.73}, {'connected_gene': 'LINC01141', 'score': 0.39}, {'connected_gene': 'ENSG00000284641', 'score': 0.29}]
chr1	GH01I019967	19967968	19968137	0.2	[{'connected_gene': 'CAMK2N1', 'score': 9.43}, {'connected_gene': 'PLA2G2A', 'score': 7.9}, {'connected_gene': 'RN7SL304P', 'score': 0.77}, {'connected_gene': 'PLA2G2E', 'score': 0.26}]
chr1	GH01I020474	20474162	20488000	2.76	[{'connected_gene': 'CAMK2N1', 'score': 558.12}, {'connected_gene': 'ENSG00000284743', 'score': 550.77}, {'connected_gene': 'HP1BP3', 'score': 43.66}, {'connected_gene': 'DDOST', 'score': 30.09}, {'connected_gene': 'OTUD3', 'score': 20.66}, {'connected_gene': 'MUL1', 'score': 19.41}, {'connected_gene': 'FAM43B', 'score': 16.74}, {'connected_gene': 'NBPF2P', 'score': 9.72}, {'connected_gene': 'ENSG00000284641', 'score': 0.77}]
chr1	GH01I020415	20415826	20416486	0.2	[{'connected_gene': 'CAMK2N1', 'score': 4.69}, {'connected_gene': 'ENSG00000226487', 'score': 0.77}, {'connected_gene': 'LINC01141', 'score': 0.37}]
chr1	GH01I020416	20416506	20417485	0.2	[{'connected_gene': 'CAMK2N1', 'score': 5.19}, {'connected_gene': 'ENSG00000226487', 'score': 0.77}, {'connected_gene': 'LINC01141', 'score': 0.39}]
chr1	GH01I019918	19918128	19919336	0.95	[{'connected_gene': 'CAMK2N1', 'score': 10.07}, {'connected_gene': 'OTUD3', 'score': 6.28}, {'connected_gene': 'PLA2G2E', 'score': 0.77}, {'connected_gene': 'PIR55587', 'score': 0.44}]
chr1	GH01I020555	20555485	20555737	0.33	[{'connected_gene': 'CAMK2N1', 'score': 2.31}, {'connected_gene': 'VWA5B1', 'score': 1.6}, {'connected_gene': 'FAM43B', 'score': 0.77}, {'connected_gene': 'CDA', 'score': 0.29}]
chr1	GH01I020355	20355829	20356810	0.38	[{'connected_gene': 'CAMK2N1', 'score': 4.49}, {'connected_gene': 'GC01P020350', 'score': 0.44}, {'connected_gene': 'PIR44198', 'score': 0.25}, {'connected_gene': 'VWA5B1', 'score': 0.2}]
chr1	GH01I020493	20493408	20498202	1.33	[{'connected_gene': 'OTUD3', 'score': 12.92}, {'connected_gene': 'NBPF3', 'score': 10.83}, {'connected_gene': 'NBPF2P', 'score': 10.81}, {'connected_gene': 'FAM43B', 'score': 8.1}, {'connected_gene': 'MUL1', 'score': 7.08}, {'connected_gene': 'PIR53014', 'score': 0.77}, {'connected_gene': 'GC01M020501', 'score': 0.77}, {'connected_gene': 'CAMK2N1', 'score': 0.44}]
chr1	GH01I019892	19892136	19893404	0.46	[{'connected_gene': 'OTUD3', 'score': 12.11}, {'connected_gene': 'PLA2G2E', 'score': 11.25}, {'connected_gene': 'CAMK2N1', 'score': 9.73}, {'connected_gene': 'LOC105376823', 'score': 0.77}, {'connected_gene': 'PIR55587', 'score': 0.37}]
chr1	GH01I020578	20578740	20579733	0.2	[{'connected_gene': 'FAM43B', 'score': 11.24}, {'connected_gene': 'CAMK2N1', 'score': 9.78}, {'connected_gene': 'DDOST', 'score': 6.62}, {'connected_gene': 'CDA', 'score': 0.44}]
chr1	GH01I020492	20492173	20493368	0.43	[{'connected_gene': 'FAM43B', 'score': 7.04}, {'connected_gene': 'CAMK2N1', 'score': 5.73}, {'connected_gene': 'GC01M020501', 'score': 0.44}, {'connected_gene': 'PIR53014', 'score': 0.44}]
chr1	GH01I020324	20324892	20326723	0.64	[{'connected_gene': 'VWA5B1', 'score': 11.22}, {'connected_gene': 'RPS14P3', 'score': 5.94}, {'connected_gene': 'CAMK2N1', 'score': 4.52}, {'connected_gene': 'ENSG00000226664', 'score': 0.77}, {'connected_gene': 'GC01P020350', 'score': 0.34}]
chr1	GH01I020238	20238595	20239447	0.43	[{'connected_gene': 'VWA5B1', 'score': 11.1}, {'connected_gene': 'CAMK2N1', 'score': 10.65}, {'connected_gene': 'AKR7A2', 'score': 6.5}, {'connected_gene': 'LINC01757', 'score': 0.77}, {'connected_gene': 'LOC105376826', 'score': 0.31}]
chr1	GH01I020290	20290538	20291200	1.44	[{'connected_gene': 'VWA5B1', 'score': 550.77}, {'connected_gene': 'HP1BP3', 'score': 19.84}, {'connected_gene': 'CAMK2N1', 'score': 5.37}, {'connected_gene': 'LOC105376828', 'score': 0.37}]
chr1	GH01I020210	20210448	20213539	1.23	[{'connected_gene': 'LOC105376826', 'score': 550.77}, {'connected_gene': 'CAMK2N1', 'score': 20.67}, {'connected_gene': 'MUL1', 'score': 10.85}, {'connected_gene': 'VWA5B1', 'score': 10.69}, {'connected_gene': 'ENSG00000226664', 'score': 10.41}, {'connected_gene': 'UBXN10', 'score': 10.16}, {'connected_gene': 'LOC105376825', 'score': 0.39}]
chr1	GH01I020399	20399446	20401089	0.59	[{'connected_gene': 'ENSG00000226664', 'score': 11.08}, {'connected_gene': 'VWA5B1', 'score': 10.4}, {'connected_gene': 'MUL1', 'score': 9.88}, {'connected_gene': 'CAMK2N1', 'score': 4.94}, {'connected_gene': 'PIR44198', 'score': 0.44}, {'connected_gene': 'LINC01141', 'score': 0.29}, {'connected_gene': 'GC01P020350', 'score': 0.25}]
chr1	GH01I020343	20343037	20344428	0.82	[{'connected_gene': 'ENSG00000226664', 'score': 11.56}, {'connected_gene': 'VWA5B1', 'score': 10.63}, {'connected_gene': 'CAMK2N1', 'score': 9.96}, {'connected_gene': 'MUL1', 'score': 9.79}, {'connected_gene': 'GC01P020350', 'score': 0.44}]