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
ENST00000261402	[[106457117, 106461733], [106464551, 106464684], [106466501, 106466621], [106477641, 106477707], [106480511, 106480663], [106500182, 106500303], [106532191, 106533811]]	[[106460579, 106461733], [106464551, 106464684], [106466501, 106466621], [106477641, 106477707], [106480511, 106480663], [106500182, 106500303], [106532191, 106532431]]
ENST00000553094	[[106461356, 106461733], [106477641, 106477811]]	[[106461356, 106461710]]
ENST00000549704	[[106461592, 106461733], [106464551, 106464684], [106466501, 106466621], [106477641, 106477816]]	[[106461592, 106461733], [106464551, 106464633]]
ENST00000548902	[[106461715, 106461733], [106464551, 106464684], [106466501, 106466621], [106477641, 106477707], [106480511, 106480734]]	[[106461715, 106461733], [106464551, 106464684], [106466501, 106466621], [106477641, 106477707], [106480511, 106480631]]
NM_014840	[[106457124, 106461733], [106464551, 106464684], [106466501, 106466621], [106477641, 106477707], [106480511, 106480663], [106500182, 106500303], [106532191, 106533811]]	[[106460579, 106461733], [106464551, 106464684], [106466501, 106466621], [106477641, 106477707], [106480511, 106480663], [106500182, 106500303], [106532191, 106532431]]

Promoter

Chrom	Start	End	Description
chr12	106477805	106477824	CAGE_peak_13_at_NUAK1_5end
chr12	106532267	106532348	CAGE_peak_8_at_NUAK1_5end
chr12	106532484	106532494	CAGE_peak_12_at_NUAK1_5end
chr12	106532517	106532527	CAGE_peak_11_at_NUAK1_5end
chr12	106532542	106532545	CAGE_peak_15_at_NUAK1_5end
chr12	106532566	106532591	CAGE_peak_6_at_NUAK1_5end
chr12	106532595	106532615	CAGE_peak_5_at_NUAK1_5end
chr12	106532631	106532642	CAGE_peak_9_at_NUAK1_5end
chr12	106532657	106532694	CAGE_peak_2_at_NUAK1_5end
chr12	106532697	106532718	CAGE_peak_4_at_NUAK1_5end
chr12	106532724	106532740	CAGE_peak_1_at_NUAK1_5end
chr12	106532751	106532767	CAGE_peak_7_at_NUAK1_5end
chr12	106532910	106532923	CAGE_peak_10_at_NUAK1_5end
chr12	106533270	106533325	CAGE_peak_3_at_NUAK1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I105417	105417150	105421469	1.34	[{'connected_gene': 'NUAK1', 'score': 11.3}, {'connected_gene': 'LOC414300', 'score': 5.73}, {'connected_gene': 'C12orf75', 'score': 4.86}, {'connected_gene': 'LOC105369955', 'score': 0.77}, {'connected_gene': 'GC12M105372', 'score': 0.25}]
chr12	GH12I106147	106147546	106148732	0.69	[{'connected_gene': 'NUAK1', 'score': 0.44}, {'connected_gene': 'LOC341378', 'score': 0.34}]
chr12	GH12I106148	106148913	106149721	0.56	[{'connected_gene': 'NUAK1', 'score': 0.44}, {'connected_gene': 'LOC341378', 'score': 0.34}]
chr12	GH12I106145	106145497	106146316	0.99	[{'connected_gene': 'NUAK1', 'score': 0.44}, {'connected_gene': 'LOC341378', 'score': 0.34}]
chr12	GH12I106130	106130193	106143152	2.41	[{'connected_gene': 'NUAK1', 'score': 556.8}, {'connected_gene': 'CRY1', 'score': 18.32}, {'connected_gene': 'POLR3B', 'score': 9.29}, {'connected_gene': 'ENSG00000260329', 'score': 4.58}, {'connected_gene': 'ENSG00000257438', 'score': 0.29}]
chr12	GH12I106111	106111567	106115672	1.26	[{'connected_gene': 'NUAK1', 'score': 11.42}, {'connected_gene': 'CRY1', 'score': 10.18}, {'connected_gene': 'ENSG00000257438', 'score': 0.39}]
chr12	GH12I105427	105427227	105428898	0.43	[{'connected_gene': 'NUAK1', 'score': 11.3}, {'connected_gene': 'GC12M105423', 'score': 0.77}, {'connected_gene': 'LOC105369955', 'score': 0.77}, {'connected_gene': 'GC12M105431', 'score': 0.77}, {'connected_gene': 'LOC105369956', 'score': 0.37}]
chr12	GH12I106105	106105673	106110949	1.31	[{'connected_gene': 'NUAK1', 'score': 11.4}, {'connected_gene': 'ENSG00000257890', 'score': 8.16}, {'connected_gene': 'ENSG00000257438', 'score': 0.44}]
chr12	GH12I106116	106116753	106117871	0.38	[{'connected_gene': 'NUAK1', 'score': 16.83}, {'connected_gene': 'ENSG00000257890', 'score': 5.76}, {'connected_gene': 'ENSG00000257438', 'score': 0.39}]
chr12	GH12I106195	106195328	106196215	0.82	[{'connected_gene': 'NUAK1', 'score': 4.8}, {'connected_gene': 'GC12M106204', 'score': 0.44}, {'connected_gene': 'GC12M106203', 'score': 0.44}, {'connected_gene': 'GC12M106180', 'score': 0.37}, {'connected_gene': 'PIR34000', 'score': 0.37}]
chr12	GH12I106115	106115884	106116168	0.31	[{'connected_gene': 'NUAK1', 'score': 12.01}, {'connected_gene': 'ENSG00000257438', 'score': 0.39}]
chr12	GH12I106073	106073417	106085979	1.43	[{'connected_gene': 'MTERF2', 'score': 62.69}, {'connected_gene': 'ENSG00000260329', 'score': 21.19}, {'connected_gene': 'LOC100287944', 'score': 11.98}, {'connected_gene': 'RIC8B', 'score': 11.31}, {'connected_gene': 'ENSG00000257890', 'score': 9.15}, {'connected_gene': 'CKAP4', 'score': 4.88}, {'connected_gene': 'GC12M106085', 'score': 0.44}, {'connected_gene': 'NUAK1', 'score': 0.21}]
chr12	GH12I106143	106143609	106145195	0.43	[{'connected_gene': 'POLR3B', 'score': 9.29}, {'connected_gene': 'NUAK1', 'score': 0.77}, {'connected_gene': 'LOC341378', 'score': 0.31}]
chr12	GH12I106118	106118127	106130154	1.36	[{'connected_gene': 'RIC8B', 'score': 13.61}, {'connected_gene': 'ENSG00000260329', 'score': 10.61}, {'connected_gene': 'ENSG00000257890', 'score': 4.57}, {'connected_gene': 'NUAK1', 'score': 0.37}, {'connected_gene': 'ENSG00000257438', 'score': 0.34}]
chr12	GH12I105982	105982646	105984679	0.51	[{'connected_gene': 'WASHC4', 'score': 5.53}, {'connected_gene': 'NUAK1', 'score': 5.21}, {'connected_gene': 'ST13P3', 'score': 0.29}, {'connected_gene': 'GC12M105897', 'score': 0.18}]
chr12	GH12I106178	106178414	106180466	0.75	[{'connected_gene': 'GC12M106180', 'score': 550.77}, {'connected_gene': 'PIR34000', 'score': 550.77}, {'connected_gene': 'NUAK1', 'score': 5.99}, {'connected_gene': 'LOC341378', 'score': 0.44}]
chr12	GH12I106094	106094131	106094258	0.31	[{'connected_gene': 'GC12M106085', 'score': 0.44}, {'connected_gene': 'ENSG00000257438', 'score': 0.44}, {'connected_gene': 'NUAK1', 'score': 0.25}]
chr12	GH12I106096	106096023	106097770	1.05	[{'connected_gene': 'GC12M106085', 'score': 0.44}, {'connected_gene': 'ENSG00000257438', 'score': 0.44}, {'connected_gene': 'NUAK1', 'score': 0.26}]
chr12	GH12I106062	106062519	106063352	0.38	[{'connected_gene': 'ENSG00000257890', 'score': 0.77}, {'connected_gene': 'GC12M106085', 'score': 0.34}, {'connected_gene': 'NUAK1', 'score': 0.18}]
chr12	GH12I106072	106072527	106073294	0.69	[{'connected_gene': 'ENSG00000257890', 'score': 6.61}, {'connected_gene': 'GC12M106085', 'score': 0.39}, {'connected_gene': 'NUAK1', 'score': 0.2}]
chr12	GH12I106086	106086389	106089695	0.49	[{'connected_gene': 'GC12M106085', 'score': 550.77}, {'connected_gene': 'ENSG00000257890', 'score': 14.55}, {'connected_gene': 'ENSG00000257438', 'score': 0.37}, {'connected_gene': 'NUAK1', 'score': 0.23}]
chr12	GH12I106104	106104182	106105440	0.2	[{'connected_gene': 'ENSG00000257438', 'score': 550.77}, {'connected_gene': 'ENSG00000257890', 'score': 7.15}, {'connected_gene': 'NUAK1', 'score': 0.28}]
chr12	GH12I106089	106089816	106092176	1	[{'connected_gene': 'ENSG00000257890', 'score': 8.68}, {'connected_gene': 'GC12M106085', 'score': 0.77}, {'connected_gene': 'ENSG00000257438', 'score': 0.39}, {'connected_gene': 'NUAK1', 'score': 0.25}]
chr12	GH12I106092	106092422	106093910	0.54	[{'connected_gene': 'ENSG00000257890', 'score': 10.74}, {'connected_gene': 'GC12M106085', 'score': 0.44}, {'connected_gene': 'ENSG00000257438', 'score': 0.44}, {'connected_gene': 'NUAK1', 'score': 0.25}]
chr12	GH12I106097	106094403	106094552	0.72	[{'connected_gene': 'ENSG00000257890', 'score': 8.78}, {'connected_gene': 'GC12M106085', 'score': 0.44}, {'connected_gene': 'ENSG00000257438', 'score': 0.44}, {'connected_gene': 'NUAK1', 'score': 0.25}]
chr12	GH12I106100	106100098	106103889	0.46	[{'connected_gene': 'ENSG00000257438', 'score': 550.77}, {'connected_gene': 'ENSG00000257890', 'score': 7.42}, {'connected_gene': 'GC12M106085', 'score': 0.39}, {'connected_gene': 'NUAK1', 'score': 0.28}]
chr12	GH12I106098	106097841	106099734	1.02	[{'connected_gene': 'ENSG00000257890', 'score': 7.76}, {'connected_gene': 'ENSG00000257438', 'score': 0.77}, {'connected_gene': 'GC12M106085', 'score': 0.39}, {'connected_gene': 'NUAK1', 'score': 0.26}]
chr12	GH12I106063	106063617	106065100	0.31	[{'connected_gene': 'ENSG00000257890', 'score': 7.14}, {'connected_gene': 'GC12M106085', 'score': 0.34}, {'connected_gene': 'NUAK1', 'score': 0.18}]
chr12	GH12I106065	106065634	106066661	0.51	[{'connected_gene': 'ENSG00000257890', 'score': 9.51}, {'connected_gene': 'GC12M106085', 'score': 0.34}, {'connected_gene': 'NUAK1', 'score': 0.19}]
chr12	GH12I106095	106095568	106095780	0.2	[{'connected_gene': 'GC12M106085', 'score': 0.44}, {'connected_gene': 'ENSG00000257438', 'score': 0.44}, {'connected_gene': 'NUAK1', 'score': 0.26}]