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
ENST00000310806	[[45672392, 45673415], [45673601, 45673656], [45675285, 45675373], [45679582, 45679731], [45686221, 45686382], [45687484, 45687657], [45693120, 45693949], [45695945, 45696039], [45696865, 45697017], [45700343, 45700501], [45701935, 45702023], [45705016, 45705147], [45706850, 45706924], [45711236, 45711721], [45711963, 45712077], [45715945, 45716580], [45722237, 45722605]]	[[45673311, 45673415], [45673601, 45673656], [45675285, 45675373], [45679582, 45679731], [45686221, 45686382], [45687484, 45687657], [45693120, 45693949], [45695945, 45696039], [45696865, 45697017], [45700343, 45700501], [45701935, 45702023], [45705016, 45705147], [45706850, 45706924], [45711236, 45711721], [45711963, 45712077], [45715945, 45716489]]
ENST00000470424	[[45673039, 45673415], [45673601, 45673656], [45675285, 45675647]]	None
ENST00000496413	[[45673582, 45673656], [45675285, 45675477]]	None
ENST00000469020	[[45679313, 45679731], [45686221, 45686382], [45687484, 45687657], [45693120, 45693248]]	None
ENST00000554093	[[45679665, 45679731], [45686221, 45686382], [45687484, 45687635], [45693120, 45693327]]	[[45687607, 45687635], [45693120, 45693327]]
ENST00000454990	[[45696028, 45696039], [45696865, 45697017], [45700343, 45700501], [45701711, 45701830], [45701935, 45702023], [45705016, 45705147], [45706850, 45706924], [45711236, 45711721], [45711963, 45712077], [45715945, 45716580], [45722237, 45722401]]	[[45701775, 45701830], [45701935, 45702023], [45705016, 45705147], [45706850, 45706924], [45711236, 45711721], [45711963, 45712077], [45715945, 45716489]]
ENST00000555653	[[45696889, 45697017], [45700343, 45700644]]	None
ENST00000453142	[[45697005, 45697017], [45700343, 45700501], [45701711, 45701830], [45701935, 45702023], [45706850, 45706924], [45711236, 45711683]]	[[45701956, 45702023], [45706850, 45706924], [45711236, 45711683]]
ENST00000494512	[[45706899, 45706924], [45722237, 45722743]]	None
ENST00000492652	[[45710670, 45711073], [45711236, 45711589]]	None
ENST00000451174	[[45716023, 45716580], [45719233, 45719341], [45722237, 45722380]]	[[45716023, 45716489]]
NM_018353	[[45672392, 45673415], [45673601, 45673656], [45675285, 45675373], [45679582, 45679731], [45686221, 45686382], [45687484, 45687657], [45693120, 45693949], [45695945, 45696039], [45696865, 45697017], [45700343, 45700501], [45701935, 45702023], [45705016, 45705147], [45706850, 45706924], [45711236, 45711721], [45711963, 45712077], [45715945, 45716580], [45722237, 45722605]]	[[45673311, 45673415], [45673601, 45673656], [45675285, 45675373], [45679582, 45679731], [45686221, 45686382], [45687484, 45687657], [45693120, 45693949], [45695945, 45696039], [45696865, 45697017], [45700343, 45700501], [45701935, 45702023], [45705016, 45705147], [45706850, 45706924], [45711236, 45711721], [45711963, 45712077], [45715945, 45716489]]

Promoter

Chrom	Start	End	Description
chr14	45722261	45722272	CAGE_peak_5_at_MIS18BP1_5end
chr14	45722287	45722308	CAGE_peak_2_at_MIS18BP1_5end
chr14	45722335	45722348	CAGE_peak_3_at_MIS18BP1_5end
chr14	45722360	45722415	CAGE_peak_1_at_MIS18BP1_5end
chr14	45722418	45722426	CAGE_peak_6_at_MIS18BP1_5end
chr14	45722673	45722691	CAGE_peak_8_at_MIS18BP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I045133	45133400	45137801	2.07	[{'connected_gene': 'FANCM', 'score': 578.21}, {'connected_gene': 'FKBP3', 'score': 550.77}, {'connected_gene': 'GC14M045133', 'score': 550.77}, {'connected_gene': 'PRPF39', 'score': 20.91}, {'connected_gene': 'ENSG00000212615', 'score': 11.05}, {'connected_gene': 'LOC105370474', 'score': 11.04}, {'connected_gene': 'KLHL28', 'score': 10.46}, {'connected_gene': 'SNORD127', 'score': 10.41}, {'connected_gene': 'TOGARAM1', 'score': 10.4}, {'connected_gene': 'MIS18BP1', 'score': 10.25}, {'connected_gene': 'LINC02302', 'score': 9.4}, {'connected_gene': 'GC14P045108', 'score': 0.31}, {'connected_gene': 'GC14P045107', 'score': 0.31}, {'connected_gene': 'GC14M044793', 'score': 0.26}, {'connected_gene': 'GC14P044911', 'score': 0.07}]
chr14	GH14I045249	45249054	45255005	2.34	[{'connected_gene': 'MIS18BP1', 'score': 572.75}, {'connected_gene': 'PRPF39', 'score': 14.33}, {'connected_gene': 'FANCM', 'score': 13.93}, {'connected_gene': 'KLHL28', 'score': 10.94}, {'connected_gene': 'C14orf28', 'score': 10.37}, {'connected_gene': 'GC14M044793', 'score': 0.19}, {'connected_gene': 'GC14M045228', 'score': 0.18}, {'connected_gene': 'GC14P045108', 'score': 0.11}, {'connected_gene': 'GC14P045107', 'score': 0.11}]
chr14	GH14I045246	45246201	45247540	0.8	[{'connected_gene': 'MIS18BP1', 'score': 0.44}, {'connected_gene': 'GC14M044793', 'score': 0.2}, {'connected_gene': 'GC14M045228', 'score': 0.17}, {'connected_gene': 'GC14P045108', 'score': 0.12}, {'connected_gene': 'GC14P045107', 'score': 0.12}]
chr14	GH14I045245	45245096	45245322	0.26	[{'connected_gene': 'MIS18BP1', 'score': 0.44}, {'connected_gene': 'GC14M044793', 'score': 0.2}, {'connected_gene': 'GC14M045228', 'score': 0.17}, {'connected_gene': 'GC14P045108', 'score': 0.12}, {'connected_gene': 'GC14P045107', 'score': 0.12}]
chr14	GH14I045242	45242401	45243200	0.2	[{'connected_gene': 'MIS18BP1', 'score': 0.39}, {'connected_gene': 'GC14M044793', 'score': 0.21}, {'connected_gene': 'GC14M045228', 'score': 0.16}, {'connected_gene': 'GC14P045108', 'score': 0.12}, {'connected_gene': 'GC14P045107', 'score': 0.12}]
chr14	GH14I045212	45212358	45212447	0.38	[{'connected_gene': 'MIS18BP1', 'score': 12.05}, {'connected_gene': 'GC14M044793', 'score': 0.29}, {'connected_gene': 'GC14P045108', 'score': 0.15}, {'connected_gene': 'GC14P045107', 'score': 0.15}, {'connected_gene': 'GC14P044911', 'score': 0.06}]
chr14	GH14I045268	45268638	45268807	0.62	[{'connected_gene': 'RNU6-552P', 'score': 0.44}, {'connected_gene': 'GC14M045275', 'score': 0.44}, {'connected_gene': 'MIS18BP1', 'score': 0.37}, {'connected_gene': 'GC14M045228', 'score': 0.21}, {'connected_gene': 'GC14P045108', 'score': 0.1}, {'connected_gene': 'GC14P045107', 'score': 0.1}]
chr14	GH14I045103	45103692	45105621	0.2	[{'connected_gene': 'LINC02302', 'score': 11.17}, {'connected_gene': 'MIS18BP1', 'score': 7.17}, {'connected_gene': 'GC14P045108', 'score': 0.77}, {'connected_gene': 'GC14P045107', 'score': 0.77}, {'connected_gene': 'ENSG00000212615', 'score': 0.37}, {'connected_gene': 'PRPF39', 'score': 0.34}, {'connected_gene': 'GC14M044793', 'score': 0.19}, {'connected_gene': 'GC14P044911', 'score': 0.08}]
chr14	GH14I045201	45201621	45202406	0.49	[{'connected_gene': 'GC14M044793', 'score': 0.34}, {'connected_gene': 'MIS18BP1', 'score': 0.23}, {'connected_gene': 'GC14P045108', 'score': 0.16}, {'connected_gene': 'GC14P045107', 'score': 0.16}, {'connected_gene': 'GC14P044911', 'score': 0.06}]
chr14	GH14I044895	44895232	44898807	1.97	[{'connected_gene': 'ENSG00000258633', 'score': 550.77}, {'connected_gene': 'C14orf28', 'score': 550.77}, {'connected_gene': 'LINC02302', 'score': 14.26}, {'connected_gene': 'MIS18BP1', 'score': 7.92}, {'connected_gene': 'RRAGAP1', 'score': 0.44}, {'connected_gene': 'GC14P044610', 'score': 0.06}, {'connected_gene': 'GC14P044608', 'score': 0.06}, {'connected_gene': 'GC14P044609', 'score': 0.06}, {'connected_gene': 'GC14M044793', 'score': 0.06}, {'connected_gene': 'GC14P044549', 'score': 0.05}, {'connected_gene': 'GC14P044449', 'score': 0.05}, {'connected_gene': 'GC14P044448', 'score': 0.05}, {'connected_gene': 'GC14P044516', 'score': 0.04}, {'connected_gene': 'GC14P044494', 'score': 0.04}, {'connected_gene': 'GC14P044474', 'score': 0.04}, {'connected_gene': 'GC14P044479', 'score': 0.04}, {'connected_gene': 'GC14P044467', 'score': 0.04}, {'connected_gene': 'GC14P044473', 'score': 0.04}, {'connected_gene': 'GC14P044484', 'score': 0.04}, {'connected_gene': 'GC14P044503', 'score': 0.04}, {'connected_gene': 'GC14P044463', 'score': 0.04}, {'connected_gene': 'GC14P044496', 'score': 0.04}, {'connected_gene': 'GC14P044469', 'score': 0.04}, {'connected_gene': 'GC14P044489', 'score': 0.04}, {'connected_gene': 'GC14P044493', 'score': 0.04}, {'connected_gene': 'GC14P044465', 'score': 0.04}, {'connected_gene': 'GC14P044495', 'score': 0.04}, {'connected_gene': 'GC14P044464', 'score': 0.04}, {'connected_gene': 'GC14P044475', 'score': 0.04}, {'connected_gene': 'GC14P044492', 'score': 0.04}, {'connected_gene': 'GC14P044486', 'score': 0.04}, {'connected_gene': 'GC14P044491', 'score': 0.04}, {'connected_gene': 'GC14P044468', 'score': 0.04}, {'connected_gene': 'GC14P044504', 'score': 0.04}, {'connected_gene': 'GC14P044481', 'score': 0.04}, {'connected_gene': 'GC14P044487', 'score': 0.04}, {'connected_gene': 'GC14P044482', 'score': 0.04}, {'connected_gene': 'GC14P044471', 'score': 0.04}, {'connected_gene': 'GC14P044506', 'score': 0.04}, {'connected_gene': 'GC14P044472', 'score': 0.04}, {'connected_gene': 'GC14P044505', 'score': 0.04}, {'connected_gene': 'GC14P044485', 'score': 0.04}, {'connected_gene': 'GC14P044498', 'score': 0.04}, {'connected_gene': 'GC14P044478', 'score': 0.04}, {'connected_gene': 'GC14P044466', 'score': 0.04}, {'connected_gene': 'GC14P044500', 'score': 0.04}, {'connected_gene': 'GC14P044477', 'score': 0.04}, {'connected_gene': 'GC14P044483', 'score': 0.04}, {'connected_gene': 'GC14P044499', 'score': 0.04}, {'connected_gene': 'GC14P044488', 'score': 0.04}, {'connected_gene': 'GC14P044515', 'score': 0.04}, {'connected_gene': 'GC14P044470', 'score': 0.04}, {'connected_gene': 'GC14P044497', 'score': 0.04}, {'connected_gene': 'GC14P044480', 'score': 0.04}, {'connected_gene': 'GC14P044490', 'score': 0.04}, {'connected_gene': 'GC14P044327', 'score': 0.03}, {'connected_gene': 'GC14P044316', 'score': 0.03}, {'connected_gene': 'GC14P044320', 'score': 0.03}, {'connected_gene': 'GC14P044326', 'score': 0.03}, {'connected_gene': 'GC14P044325', 'score': 0.03}, {'connected_gene': 'GC14P044321', 'score': 0.03}, {'connected_gene': 'GC14P044318', 'score': 0.03}, {'connected_gene': 'GC14P044324', 'score': 0.03}, {'connected_gene': 'GC14P044319', 'score': 0.03}, {'connected_gene': 'GC14P044317', 'score': 0.03}, {'connected_gene': 'GC14P044323', 'score': 0.03}, {'connected_gene': 'GC14P044322', 'score': 0.03}, {'connected_gene': 'GC14P044304', 'score': 0.03}, {'connected_gene': 'GC14P044303', 'score': 0.03}]
chr14	GH14I045198	45198412	45200027	0.2	[{'connected_gene': 'ENSG00000212615', 'score': 11.15}, {'connected_gene': 'LOC105370474', 'score': 11.14}, {'connected_gene': 'PRPF39', 'score': 11.14}, {'connected_gene': 'MIS18BP1', 'score': 9.66}, {'connected_gene': 'GC14M044793', 'score': 0.34}, {'connected_gene': 'FANCM', 'score': 0.21}, {'connected_gene': 'GC14P045108', 'score': 0.16}, {'connected_gene': 'GC14P045107', 'score': 0.16}, {'connected_gene': 'GC14P044911', 'score': 0.06}]