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
ENST00000262384	[[48572636, 48577172], [48580057, 48580165], [48581917, 48582025], [48585296, 48585393], [48587449, 48587580], [48594664, 48596355], [48643685, 48644120]]	[[48576814, 48577172], [48580057, 48580165], [48581917, 48582025], [48585296, 48585393], [48587449, 48587580], [48594664, 48596355], [48643685, 48643883]]
ENST00000564124	[[48580007, 48580165], [48581917, 48582025], [48585296, 48585393], [48587449, 48587580], [48594664, 48596355], [48653759, 48654059]]	None
ENST00000564710	[[48595868, 48596355], [48637570, 48637623]]	[[48595868, 48596295]]
ENST00000565423	[[48576790, 48577172], [48581917, 48582025], [48585296, 48585355]]	None
ENST00000569027	[[48577074, 48577172], [48580057, 48580495]]	None
ENST00000565638	[[48580092, 48580165], [48581917, 48582025], [48587449, 48587564]]	None
NM_153029	[[48572636, 48577172], [48580057, 48580165], [48581917, 48582025], [48585296, 48585393], [48587449, 48587580], [48594664, 48596355], [48643685, 48644120]]	[[48576814, 48577172], [48580057, 48580165], [48581917, 48582025], [48585296, 48585393], [48587449, 48587580], [48594664, 48596355], [48643685, 48643883]]

Promoter

Chrom	Start	End	Description
chr16	48643874	48643915	CAGE_peak_2_at_N4BP1_5end
chr16	48643953	48643983	CAGE_peak_3_at_N4BP1_5end
chr16	48644061	48644141	CAGE_peak_1_at_N4BP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I048605	48605432	48614402	2.6	[{'connected_gene': 'N4BP1', 'score': 574.46}, {'connected_gene': 'ENSG00000260052', 'score': 6.73}, {'connected_gene': 'ENSG00000261267', 'score': 5.18}, {'connected_gene': 'ENSG00000261538', 'score': 4.95}, {'connected_gene': 'LONP2', 'score': 2.49}, {'connected_gene': 'SIAH1', 'score': 2.49}, {'connected_gene': 'GC16P048601', 'score': 0.44}]
chr16	GH16I048339	48339872	48340306	0.24	[{'connected_gene': 'N4BP1', 'score': 4.16}, {'connected_gene': 'SIAH1', 'score': 2.98}, {'connected_gene': 'LONP2', 'score': 2.26}, {'connected_gene': 'UBA52P8', 'score': 0.44}, {'connected_gene': 'ENSG00000280067', 'score': 0.44}]
chr16	GH16I048531	48531489	48532394	0.52	[{'connected_gene': 'N4BP1', 'score': 11.33}, {'connected_gene': 'ENSG00000260052', 'score': 6.05}, {'connected_gene': 'ENSG00000261267', 'score': 5.81}, {'connected_gene': 'SIAH1', 'score': 4.48}, {'connected_gene': 'PIR32085', 'score': 0.77}, {'connected_gene': 'MOCS1P1', 'score': 0.28}]
chr16	GH16I048621	48621307	48621848	0.99	[{'connected_gene': 'N4BP1', 'score': 576.72}, {'connected_gene': 'ENSG00000260086', 'score': 550.77}, {'connected_gene': 'ENSG00000259912', 'score': 550.77}, {'connected_gene': 'LOC105371240', 'score': 550.77}, {'connected_gene': 'SIAH1', 'score': 3.53}]
chr16	GH16I048582	48582950	48584259	0.51	[{'connected_gene': 'N4BP1', 'score': 12.48}, {'connected_gene': 'ENSG00000260052', 'score': 6.16}, {'connected_gene': 'ENSG00000261267', 'score': 5.42}, {'connected_gene': 'RPS2P44', 'score': 0.44}, {'connected_gene': 'LOC105371239', 'score': 0.37}]
chr16	GH16I048575	48575601	48575800	0.2	[{'connected_gene': 'N4BP1', 'score': 11.77}, {'connected_gene': 'RPS2P44', 'score': 0.77}, {'connected_gene': 'PIR45350', 'score': 0.39}, {'connected_gene': 'ENSG00000261267', 'score': 0.37}]
chr16	GH16I048574	48574801	48575200	0.2	[{'connected_gene': 'N4BP1', 'score': 11.76}, {'connected_gene': 'RPS2P44', 'score': 0.77}, {'connected_gene': 'PIR45350', 'score': 0.39}, {'connected_gene': 'ENSG00000261267', 'score': 0.37}]
chr16	GH16I048556	48555201	48555400	0.31	[{'connected_gene': 'N4BP1', 'score': 11.69}, {'connected_gene': 'ENSG00000261267', 'score': 0.77}, {'connected_gene': 'PIR50161', 'score': 0.39}]
chr16	GH16I048479	48479365	48480447	1.08	[{'connected_gene': 'LONP2', 'score': 4.91}, {'connected_gene': 'SIAH1', 'score': 2.14}, {'connected_gene': 'N4BP1', 'score': 1.88}, {'connected_gene': 'LOC100526838', 'score': 0.44}, {'connected_gene': 'MOCS1P1', 'score': 0.37}]
chr16	GH16I048602	48602001	48604400	1.17	[{'connected_gene': 'SIAH1', 'score': 22.43}, {'connected_gene': 'N4BP1', 'score': 12.03}, {'connected_gene': 'UBA52P8', 'score': 10.54}, {'connected_gene': 'GC16P048601', 'score': 0.77}]
chr16	GH16I048382	48382492	48386386	2.47	[{'connected_gene': 'SIAH1', 'score': 554.18}, {'connected_gene': 'N4BP1', 'score': 4.21}, {'connected_gene': 'GC16P048414', 'score': 0.29}, {'connected_gene': 'ENSG00000280067', 'score': 0.28}]
chr16	GH16I048364	48364347	48368085	2.51	[{'connected_gene': 'SIAH1', 'score': 565.96}, {'connected_gene': 'LONP2', 'score': 21.24}, {'connected_gene': 'N4BP1', 'score': 8.13}, {'connected_gene': 'ENSG00000280067', 'score': 0.34}, {'connected_gene': 'GC16P048414', 'score': 0.25}]
chr16	GH16I048596	48596330	48596479	0.65	[{'connected_gene': 'LOC105371239', 'score': 0.77}, {'connected_gene': 'RPS2P44', 'score': 0.37}, {'connected_gene': 'N4BP1', 'score': 0.34}]
chr16	GH16I048597	48597801	48598411	0.43	[{'connected_gene': 'LOC105371239', 'score': 0.77}, {'connected_gene': 'RPS2P44', 'score': 0.37}, {'connected_gene': 'N4BP1', 'score': 0.34}]
chr16	GH16I048576	48576601	48577800	0.73	[{'connected_gene': 'RPS2P44', 'score': 550.77}, {'connected_gene': 'N4BP1', 'score': 30.07}, {'connected_gene': 'ENSG00000261267', 'score': 5.44}, {'connected_gene': 'SIAH1', 'score': 3.07}, {'connected_gene': 'PIR45350', 'score': 0.37}]
chr16	GH16I048562	48562001	48562453	1.01	[{'connected_gene': 'PIR60022', 'score': 550.77}, {'connected_gene': 'PIR45350', 'score': 550.77}, {'connected_gene': 'N4BP1', 'score': 11.62}, {'connected_gene': 'ABCC11', 'score': 10.98}, {'connected_gene': 'LONP2', 'score': 10.98}, {'connected_gene': 'ENSG00000261267', 'score': 0.77}, {'connected_gene': 'RPS2P44', 'score': 0.37}]
chr16	GH16I048555	48555802	48559999	1.25	[{'connected_gene': 'ENSG00000261267', 'score': 555.85}, {'connected_gene': 'N4BP1', 'score': 32.9}, {'connected_gene': 'LONP2', 'score': 10.98}, {'connected_gene': 'ABCC11', 'score': 10.98}, {'connected_gene': 'ENSG00000260052', 'score': 6.1}, {'connected_gene': 'SIAH1', 'score': 4.39}, {'connected_gene': 'PIR50161', 'score': 0.39}]
chr16	GH16I048535	48535596	48538987	1.26	[{'connected_gene': 'PIR50260', 'score': 550.77}, {'connected_gene': 'PIR42269', 'score': 550.77}, {'connected_gene': 'PIR53524', 'score': 550.77}, {'connected_gene': 'N4BP1', 'score': 13.61}, {'connected_gene': 'ENSG00000260052', 'score': 6.06}, {'connected_gene': 'ENSG00000261267', 'score': 5.42}]
chr16	GH16I048619	48619801	48620000	0.38	[{'connected_gene': 'ENSG00000259912', 'score': 550.77}, {'connected_gene': 'N4BP1', 'score': 550.77}, {'connected_gene': 'GC16P048601', 'score': 0.37}]
chr16	GH16I048541	48541928	48542432	0.59	[{'connected_gene': 'GC16M048541', 'score': 550.77}, {'connected_gene': 'PIR50161', 'score': 550.77}, {'connected_gene': 'PIR41226', 'score': 550.77}, {'connected_gene': 'PIR40528', 'score': 550.77}, {'connected_gene': 'PIR52926', 'score': 550.77}, {'connected_gene': 'ENSG00000260052', 'score': 6.07}, {'connected_gene': 'N4BP1', 'score': 0.18}]
chr16	GH16I048546	48546121	48547953	0.85	[{'connected_gene': 'PIR50161', 'score': 0.77}, {'connected_gene': 'ENSG00000261267', 'score': 0.39}, {'connected_gene': 'N4BP1', 'score': 0.19}]
chr16	GH16I048617	48617800	48618000	0.46	[{'connected_gene': 'ENSG00000261538', 'score': 4.89}, {'connected_gene': 'N4BP1', 'score': 0.77}, {'connected_gene': 'GC16P048601', 'score': 0.37}]
chr16	GH16I048430	48430524	48435400	1.2	[{'connected_gene': 'ENSG00000275909', 'score': 550.77}, {'connected_gene': 'SIAH1', 'score': 16.98}, {'connected_gene': 'N4BP1', 'score': 16.97}, {'connected_gene': 'LONP2', 'score': 11.83}, {'connected_gene': 'ABCC11', 'score': 9.17}, {'connected_gene': 'GC16P048414', 'score': 0.37}]
chr16	GH16I048622	48622579	48624638	2.01	[{'connected_gene': 'ENSG00000260086', 'score': 550.77}, {'connected_gene': 'LOC105371240', 'score': 550.77}, {'connected_gene': 'N4BP1', 'score': 30.63}, {'connected_gene': 'SIAH1', 'score': 7.83}, {'connected_gene': 'ENSG00000260052', 'score': 5.17}]