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
ENST00000268171	[[91411821, 91411941], [91418811, 91419147], [91419484, 91419583], [91419691, 91419787], [91420125, 91420254], [91420364, 91420441], [91420756, 91420845], [91421361, 91421534], [91421993, 91422206], [91422673, 91422774], [91422900, 91423004], [91423096, 91423214], [91423323, 91423503], [91423920, 91424045], [91424159, 91424270], [91424515, 91426688]]	[[91418970, 91419147], [91419484, 91419583], [91419691, 91419787], [91420125, 91420254], [91420364, 91420441], [91420756, 91420845], [91421361, 91421534], [91421993, 91422206], [91422673, 91422774], [91422900, 91423004], [91423096, 91423214], [91423323, 91423503], [91423920, 91424045], [91424159, 91424270], [91424515, 91425108]]
ENST00000559353	[[91416107, 91416328], [91418811, 91419147], [91419484, 91419514]]	[[91418970, 91419147], [91419484, 91419514]]
ENST00000560824	[[91418917, 91419147], [91419484, 91419583], [91419697, 91419787], [91420125, 91420254], [91420364, 91420396]]	[[91418970, 91419147], [91419484, 91419583], [91419697, 91419787], [91420125, 91420254], [91420364, 91420396]]
ENST00000558794	[[91421423, 91421534], [91421993, 91422206], [91422673, 91422774], [91422900, 91423004], [91423096, 91423345], [91423920, 91423986]]	[[91421423, 91421534], [91421993, 91422206], [91422673, 91422774], [91422900, 91423004], [91423096, 91423218]]
ENST00000560018	[[91422813, 91423004], [91423096, 91423326]]	None
NM_002569	[[91411821, 91411941], [91418811, 91419147], [91419484, 91419583], [91419691, 91419787], [91420125, 91420254], [91420364, 91420441], [91420756, 91420845], [91421361, 91421534], [91421993, 91422206], [91422673, 91422774], [91422900, 91423004], [91423096, 91423214], [91423323, 91423503], [91423920, 91424045], [91424159, 91424270], [91424515, 91426688]]	[[91418970, 91419147], [91419484, 91419583], [91419691, 91419787], [91420125, 91420254], [91420364, 91420441], [91420756, 91420845], [91421361, 91421534], [91421993, 91422206], [91422673, 91422774], [91422900, 91423004], [91423096, 91423214], [91423323, 91423503], [91423920, 91424045], [91424159, 91424270], [91424515, 91425108]]
NM_001289823	[[91414768, 91414835], [91418811, 91419147], [91419484, 91419583], [91419691, 91419787], [91420125, 91420254], [91420364, 91420441], [91420756, 91420845], [91421361, 91421534], [91421993, 91422206], [91422673, 91422774], [91422900, 91423004], [91423096, 91423214], [91423323, 91423503], [91423920, 91424045], [91424159, 91424270], [91424515, 91426688]]	[[91418970, 91419147], [91419484, 91419583], [91419691, 91419787], [91420125, 91420254], [91420364, 91420441], [91420756, 91420845], [91421361, 91421534], [91421993, 91422206], [91422673, 91422774], [91422900, 91423004], [91423096, 91423214], [91423323, 91423503], [91423920, 91424045], [91424159, 91424270], [91424515, 91425108]]
NM_001289824	[[91416107, 91416328], [91418811, 91419147], [91419484, 91419583], [91419691, 91419787], [91420125, 91420254], [91420364, 91420441], [91420756, 91420845], [91421361, 91421534], [91421993, 91422206], [91422673, 91422774], [91422900, 91423004], [91423096, 91423214], [91423323, 91423503], [91423920, 91424045], [91424159, 91424270], [91424515, 91426688]]	[[91418970, 91419147], [91419484, 91419583], [91419691, 91419787], [91420125, 91420254], [91420364, 91420441], [91420756, 91420845], [91421361, 91421534], [91421993, 91422206], [91422673, 91422774], [91422900, 91423004], [91423096, 91423214], [91423323, 91423503], [91423920, 91424045], [91424159, 91424270], [91424515, 91425108]]

Promoter

Chrom	Start	End	Description
chr15	91411810	91411828	CAGE_peak_1_at_FURIN_5end
chr15	91411874	91411885	CAGE_peak_5_at_FURIN_5end
chr15	91415990	91416002	CAGE_peak_4_at_FURIN_5end
chr15	91416076	91416089	CAGE_peak_9_at_FURIN_5end
chr15	91416092	91416120	CAGE_peak_6_at_FURIN_5end
chr15	91418839	91418876	CAGE_peak_3_at_FURIN_5end
chr15	91418935	91418974	CAGE_peak_2_at_FURIN_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr15	GH15I090807	90807110	90809000	0.51	[{'connected_gene': 'BLM', 'score': 15.78}, {'connected_gene': 'FURIN', 'score': 11.78}, {'connected_gene': 'FES', 'score': 11.75}, {'connected_gene': 'ENSG00000200677', 'score': 11.7}, {'connected_gene': 'VPS33B-DT', 'score': 11.65}, {'connected_gene': 'MAN2A2', 'score': 11.28}, {'connected_gene': 'CRTC3', 'score': 10.13}, {'connected_gene': 'GABARAPL3', 'score': 9.83}, {'connected_gene': 'PIR44829', 'score': 0.77}, {'connected_gene': 'GC15M090794', 'score': 0.39}, {'connected_gene': 'GC15M090790', 'score': 0.37}]
chr15	GH15I090867	90867875	90874846	2.58	[{'connected_gene': 'FURIN', 'score': 554.95}, {'connected_gene': 'UNC45A', 'score': 49.26}, {'connected_gene': 'ENSG00000259314', 'score': 32.98}, {'connected_gene': 'FES', 'score': 29.47}, {'connected_gene': 'LOC100631255', 'score': 21.38}, {'connected_gene': 'IQGAP1', 'score': 14.48}, {'connected_gene': 'ENSG00000259212', 'score': 13.29}, {'connected_gene': 'CRTC3', 'score': 13.05}, {'connected_gene': 'GC15P090874', 'score': 0.77}]
chr15	GH15I090834	90834644	90835111	0.79	[{'connected_gene': 'FURIN', 'score': 12.56}, {'connected_gene': 'FES', 'score': 12.51}, {'connected_gene': 'VPS33B-DT', 'score': 12.35}, {'connected_gene': 'HDDC3', 'score': 11.42}, {'connected_gene': 'UNC45A', 'score': 11.42}, {'connected_gene': 'ENSG00000200677', 'score': 11.01}, {'connected_gene': 'LOC105370969', 'score': 0.77}, {'connected_gene': 'GC15M090794', 'score': 0.39}]
chr15	GH15I090829	90829260	90831892	1.39	[{'connected_gene': 'FES', 'score': 24.13}, {'connected_gene': 'UNC45A', 'score': 13.99}, {'connected_gene': 'FURIN', 'score': 12.54}, {'connected_gene': 'VPS33B-DT', 'score': 12.34}, {'connected_gene': 'HDDC3', 'score': 11.41}, {'connected_gene': 'ENSG00000200677', 'score': 11.01}, {'connected_gene': 'IQGAP1', 'score': 3.52}, {'connected_gene': 'LOC105370969', 'score': 0.44}, {'connected_gene': 'GC15M090794', 'score': 0.39}]
chr15	GH15I090882	90882376	90886460	2.11	[{'connected_gene': 'FES', 'score': 575.71}, {'connected_gene': 'FURIN', 'score': 0.37}, {'connected_gene': 'GC15P090900', 'score': 0.37}]
chr15	GH15I090876	90876068	90877835	0.43	[{'connected_gene': 'FES', 'score': 23.54}, {'connected_gene': 'GC15P090874', 'score': 0.77}, {'connected_gene': 'FURIN', 'score': 0.44}]
chr15	GH15I090835	90835911	90842736	1.71	[{'connected_gene': 'LOC105370969', 'score': 559.05}, {'connected_gene': 'UNC45A', 'score': 24.0}, {'connected_gene': 'FES', 'score': 20.55}, {'connected_gene': 'BLM', 'score': 17.98}, {'connected_gene': 'FURIN', 'score': 13.79}, {'connected_gene': 'VPS33B-DT', 'score': 13.57}, {'connected_gene': 'LOC100631255', 'score': 12.19}, {'connected_gene': 'MAN2A2', 'score': 11.75}, {'connected_gene': 'HDDC3', 'score': 11.42}, {'connected_gene': 'ENSG00000259314', 'score': 11.27}, {'connected_gene': 'ENSG00000200677', 'score': 11.01}, {'connected_gene': 'VPS33B', 'score': 10.72}, {'connected_gene': 'CRTC3', 'score': 1.97}, {'connected_gene': 'IQGAP1', 'score': 1.32}, {'connected_gene': 'GC15M090794', 'score': 0.37}]
chr15	GH15I090923	90923051	90923200	0.76	[{'connected_gene': 'ENSG00000259661', 'score': 550.77}, {'connected_gene': 'MAN2A2', 'score': 13.4}, {'connected_gene': 'FES', 'score': 13.34}, {'connected_gene': 'FURIN', 'score': 12.65}, {'connected_gene': 'VPS33B-DT', 'score': 12.57}, {'connected_gene': 'BLM', 'score': 10.51}, {'connected_gene': 'ENSG00000200677', 'score': 9.89}, {'connected_gene': 'CRTC3', 'score': 9.12}, {'connected_gene': 'UNC45A', 'score': 0.44}]
chr15	GH15I090812	90812001	90813000	0.4	[{'connected_gene': 'PIR44829', 'score': 550.77}, {'connected_gene': 'FES', 'score': 15.9}, {'connected_gene': 'FURIN', 'score': 11.64}, {'connected_gene': 'ENSG00000200677', 'score': 11.62}, {'connected_gene': 'VPS33B-DT', 'score': 11.5}, {'connected_gene': 'MAN2A2', 'score': 11.29}, {'connected_gene': 'CRTC3', 'score': 10.13}, {'connected_gene': 'BLM', 'score': 4.81}, {'connected_gene': 'GC15M090794', 'score': 0.44}, {'connected_gene': 'GC15M090790', 'score': 0.34}]