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
ENST00000261427	[[39699663, 39700010], [39739039, 39739133], [39747371, 39747430], [39757276, 39757359], [39776453, 39776553], [39779301, 39779430], [39779979, 39784412]]	[[39699947, 39700010], [39739039, 39739133], [39747371, 39747430], [39757276, 39757359], [39776453, 39776553], [39779301, 39779430], [39779979, 39780054]]
ENST00000510934	[[39699728, 39700010], [39739039, 39739133], [39747371, 39747430], [39779301, 39779430], [39779979, 39780004]]	[[39699947, 39700010], [39739039, 39739133], [39747371, 39747430], [39779301, 39779430], [39779979, 39780004]]
ENST00000295963	[[39699728, 39700010], [39739039, 39739133], [39747371, 39747430], [39779301, 39779430], [39779979, 39780638]]	[[39699947, 39700010], [39739039, 39739133], [39747371, 39747430], [39779301, 39779430], [39779979, 39780054]]
ENST00000513231	[[39699758, 39700010], [39747371, 39747430], [39757276, 39757359], [39776453, 39776553], [39779301, 39779430], [39779979, 39780227]]	None
ENST00000438068	[[39699758, 39699922], [39739039, 39739133], [39747371, 39747430], [39757276, 39757359], [39776453, 39776553], [39779301, 39779430], [39779979, 39781612]]	None
ENST00000503368	[[39699782, 39700010], [39757276, 39757359], [39776453, 39776553], [39779301, 39779430], [39779979, 39780330]]	[[39699947, 39700010], [39757276, 39757359], [39776453, 39776553], [39779301, 39779430], [39779979, 39780054]]
ENST00000445950	[[39699795, 39700010], [39739039, 39739133], [39747371, 39747430], [39757276, 39757359], [39776453, 39776553], [39779979, 39781603]]	[[39699947, 39700010], [39739039, 39739133], [39747371, 39747430], [39757276, 39757359], [39776453, 39776553], [39779979, 39780054]]
ENST00000510719	[[39699947, 39700010], [39776453, 39776553], [39779301, 39779430], [39779979, 39780253]]	[[39699947, 39700010], [39776453, 39776525]]
NM_001312647	[[39699663, 39699922], [39739039, 39739133], [39747371, 39747430], [39757276, 39757359], [39776453, 39776553], [39779301, 39779430], [39779979, 39784412]]	[[39776463, 39776553], [39779301, 39779430], [39779979, 39780054]]
NM_001111113	[[39699663, 39700010], [39757276, 39757359], [39776453, 39776553], [39779301, 39779430], [39779979, 39784412]]	[[39699947, 39700010], [39757276, 39757359], [39776453, 39776553], [39779301, 39779430], [39779979, 39780054]]
NM_001312648	[[39699663, 39700010], [39747371, 39747430], [39757276, 39757359], [39776453, 39776553], [39779301, 39779430], [39779979, 39784412]]	[[39776463, 39776553], [39779301, 39779430], [39779979, 39780054]]
NM_001312646	[[39699663, 39700010], [39739039, 39739133], [39747371, 39747430], [39779301, 39779430], [39779979, 39784412]]	[[39699947, 39700010], [39739039, 39739133], [39747371, 39747430], [39779301, 39779430], [39779979, 39780054]]
NM_001111112	[[39699663, 39700010], [39739039, 39739133], [39747371, 39747430], [39757276, 39757359], [39776453, 39776553], [39779979, 39784412]]	[[39699947, 39700010], [39739039, 39739133], [39747371, 39747430], [39757276, 39757359], [39776453, 39776553], [39779979, 39780054]]
NM_005339	[[39699663, 39700010], [39739039, 39739133], [39747371, 39747430], [39757276, 39757359], [39776453, 39776553], [39779301, 39779430], [39779979, 39784412]]	[[39699947, 39700010], [39739039, 39739133], [39747371, 39747430], [39757276, 39757359], [39776453, 39776553], [39779301, 39779430], [39779979, 39780054]]

Promoter

Chrom	Start	End	Description
chr4	39699733	39699772	CAGE_peak_1_at_UBE2K_5end
chr4	39699776	39699796	CAGE_peak_2_at_UBE2K_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I039705	39705921	39707602	0.86	[{'connected_gene': 'RPL9', 'score': 13.48}, {'connected_gene': 'UBE2K', 'score': 5.24}, {'connected_gene': 'ENSG00000252975', 'score': 0.77}, {'connected_gene': 'GC04M039712', 'score': 0.77}]
chr4	GH04I040603	40603491	40608164	0.96	[{'connected_gene': 'RBM47', 'score': 12.28}, {'connected_gene': 'RNU7-74P', 'score': 9.93}, {'connected_gene': 'CHRNA9', 'score': 9.86}, {'connected_gene': 'ENSG00000250906', 'score': 9.3}, {'connected_gene': 'UBE2K', 'score': 5.03}, {'connected_gene': 'MIR4802', 'score': 0.15}]
chr4	GH04I039695	39695781	39701066	2.23	[{'connected_gene': 'UBE2K', 'score': 560.8}, {'connected_gene': 'RPL9', 'score': 15.85}, {'connected_gene': 'PDS5A', 'score': 15.38}, {'connected_gene': 'ZBTB12BP', 'score': 13.65}, {'connected_gene': 'N4BP2', 'score': 12.9}, {'connected_gene': 'RFC1', 'score': 11.56}, {'connected_gene': 'RBM47', 'score': 4.7}, {'connected_gene': 'ENSG00000252975', 'score': 0.39}, {'connected_gene': 'GC04M039712', 'score': 0.39}]
chr4	GH04I040593	40593928	40595585	0.52	[{'connected_gene': 'UBE2K', 'score': 4.61}, {'connected_gene': 'RBM47', 'score': 0.28}, {'connected_gene': 'MIR4802', 'score': 0.16}]
chr4	GH04I039611	39611561	39617479	1.25	[{'connected_gene': 'SMIM14', 'score': 13.39}, {'connected_gene': 'RPL9', 'score': 6.89}, {'connected_gene': 'UBE2K', 'score': 4.77}, {'connected_gene': 'RNU7-11P', 'score': 0.44}, {'connected_gene': 'GC04M039547', 'score': 0.21}]
chr4	GH04I039732	39732742	39733312	0.49	[{'connected_gene': 'SMIM14', 'score': 10.97}, {'connected_gene': 'LOC105374419', 'score': 10.97}, {'connected_gene': 'UBE2K', 'score': 5.1}, {'connected_gene': 'ENSG00000249019', 'score': 0.37}, {'connected_gene': 'RN7SL558P', 'score': 0.31}]
chr4	GH04I039664	39664688	39665689	0.69	[{'connected_gene': 'SMIM14', 'score': 0.31}, {'connected_gene': 'LOC105374419', 'score': 0.31}, {'connected_gene': 'UBE2K', 'score': 0.29}]
chr4	GH04I039657	39657589	39657817	0.67	[{'connected_gene': 'SMIM14', 'score': 0.37}, {'connected_gene': 'LOC105374419', 'score': 0.37}, {'connected_gene': 'UBE2K', 'score': 0.26}]
chr4	GH04I039656	39656021	39656170	0.65	[{'connected_gene': 'SMIM14', 'score': 0.37}, {'connected_gene': 'LOC105374419', 'score': 0.37}, {'connected_gene': 'UBE2K', 'score': 0.26}]
chr4	GH04I039659	39659656	39661044	0.31	[{'connected_gene': 'SMIM14', 'score': 0.34}, {'connected_gene': 'LOC105374419', 'score': 0.34}, {'connected_gene': 'UBE2K', 'score': 0.28}]
chr4	GH04I040599	40599315	40599735	0.2	[{'connected_gene': 'RNU7-74P', 'score': 9.93}, {'connected_gene': 'UBE2K', 'score': 4.26}, {'connected_gene': 'RBM47', 'score': 0.29}, {'connected_gene': 'MIR4802', 'score': 0.15}]
chr4	GH04I039713	39713401	39714599	0.43	[{'connected_gene': 'ENSG00000249019', 'score': 550.77}, {'connected_gene': 'RPL9', 'score': 10.7}, {'connected_gene': 'UBE2K', 'score': 5.18}, {'connected_gene': 'ENSG00000252975', 'score': 0.77}, {'connected_gene': 'GC04M039712', 'score': 0.77}]