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
ENST00000376736	[[79000432, 79002445], [79003469, 79003572], [79007333, 79007485], [79009005, 79009421]]	[[79002314, 79002445], [79003469, 79003572], [79007333, 79007485], [79009005, 79009087]]
ENST00000490113	[[79000461, 79002445], [79003098, 79003202], [79003469, 79003572], [79007333, 79007485], [79009005, 79009048]]	[[79003137, 79003202], [79003469, 79003572], [79007333, 79007485], [79009005, 79009048]]
ENST00000483155	[[79001896, 79002445], [79003469, 79003572], [79007333, 79007485], [79008715, 79008873]]	None
ENST00000476087	[[79002199, 79002445], [79003469, 79003572], [79007333, 79007485], [79008629, 79008682]]	None
ENST00000472900	[[79002223, 79002445], [79003469, 79003572], [79009005, 79009433]]	None
ENST00000479197	[[79002499, 79003572], [79009005, 79009433]]	None
NM_018339	[[79000432, 79002445], [79003469, 79003572], [79007333, 79007485], [79009005, 79009444]]	[[79002314, 79002445], [79003469, 79003572], [79007333, 79007485], [79009005, 79009087]]

Promoter

Chrom	Start	End	Description
chr9	79008856	79008877	CAGE_peak_8_at_RFK_5end
chr9	79008881	79008891	CAGE_peak_11_at_RFK_5end
chr9	79009188	79009208	CAGE_peak_5_at_RFK_5end
chr9	79009215	79009226	CAGE_peak_6_at_RFK_5end
chr9	79009244	79009257	CAGE_peak_4_at_RFK_5end
chr9	79009267	79009285	CAGE_peak_3_at_RFK_5end
chr9	79009288	79009378	CAGE_peak_1_at_RFK_5end
chr9	79009414	79009452	CAGE_peak_2_at_RFK_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I076392	76392997	76396189	2.03	[{'connected_gene': 'RFK', 'score': 560.85}, {'connected_gene': 'GCNT1', 'score': 8.27}, {'connected_gene': 'RPSAP9', 'score': 0.77}]
chr9	GH09I076441	76441081	76442685	0.76	[{'connected_gene': 'RFK', 'score': 9.65}, {'connected_gene': 'GCNT1', 'score': 0.34}, {'connected_gene': 'ENSG00000233814', 'score': 0.34}, {'connected_gene': 'LOC105376093', 'score': 0.19}]
chr9	GH09I076447	76447402	76448217	0.79	[{'connected_gene': 'RFK', 'score': 8.05}, {'connected_gene': 'GCNT1', 'score': 0.31}, {'connected_gene': 'ENSG00000233814', 'score': 0.31}, {'connected_gene': 'LOC105376093', 'score': 0.2}]
chr9	GH09I076453	76453646	76454343	0.43	[{'connected_gene': 'RFK', 'score': 8.08}, {'connected_gene': 'GCNT1', 'score': 0.29}, {'connected_gene': 'ENSG00000233814', 'score': 0.29}, {'connected_gene': 'LOC105376093', 'score': 0.21}]
chr9	GH09I076455	76455785	76457154	1.18	[{'connected_gene': 'RFK', 'score': 8.23}, {'connected_gene': 'GCNT1', 'score': 0.28}, {'connected_gene': 'ENSG00000233814', 'score': 0.28}, {'connected_gene': 'LOC105376093', 'score': 0.22}]
chr9	GH09I076358	76358517	76359831	1.07	[{'connected_gene': 'RFK', 'score': 0.28}, {'connected_gene': 'RBM22P5', 'score': 0.19}, {'connected_gene': 'PCSK5', 'score': 0.04}]
chr9	GH09I076362	76362096	76364359	0.89	[{'connected_gene': 'RFK', 'score': 0.29}, {'connected_gene': 'RBM22P5', 'score': 0.18}, {'connected_gene': 'PCSK5', 'score': 0.04}]
chr9	GH09I076390	76390749	76391180	0.38	[{'connected_gene': 'RFK', 'score': 0.77}, {'connected_gene': 'RBM22P5', 'score': 0.15}]
chr9	GH09I076366	76366425	76366434	0.69	[{'connected_gene': 'RFK', 'score': 0.31}, {'connected_gene': 'RBM22P5', 'score': 0.18}]
chr9	GH09I076365	76365145	76365294	0.77	[{'connected_gene': 'RFK', 'score': 0.31}, {'connected_gene': 'RBM22P5', 'score': 0.18}]
chr9	GH09I076371	76371801	76372401	0.83	[{'connected_gene': 'PCSK5', 'score': 9.79}, {'connected_gene': 'RFK', 'score': 6.57}, {'connected_gene': 'RBM22P5', 'score': 0.18}]
chr9	GH09I076369	76369401	76370001	0.95	[{'connected_gene': 'PCSK5', 'score': 9.8}, {'connected_gene': 'RFK', 'score': 0.34}, {'connected_gene': 'RBM22P5', 'score': 0.18}]
chr9	GH09I076372	76372587	76376124	1.17	[{'connected_gene': 'PCSK5', 'score': 9.79}, {'connected_gene': 'GCNT1', 'score': 6.62}, {'connected_gene': 'RFK', 'score': 6.58}, {'connected_gene': 'RBM22P5', 'score': 0.17}]
chr9	GH09I076296	76296997	76298857	0.66	[{'connected_gene': 'PCSK5', 'score': 10.57}, {'connected_gene': 'RBM22P5', 'score': 0.44}, {'connected_gene': 'RFK', 'score': 0.15}]
chr9	GH09I076310	76310612	76312565	0.2	[{'connected_gene': 'PCSK5', 'score': 10.87}, {'connected_gene': 'RBM22P5', 'score': 0.34}, {'connected_gene': 'RFK', 'score': 0.18}]
chr9	GH09I076313	76313158	76314351	0.31	[{'connected_gene': 'PCSK5', 'score': 10.87}, {'connected_gene': 'RBM22P5', 'score': 0.31}, {'connected_gene': 'RFK', 'score': 0.18}]
chr9	GH09I076323	76323182	76324473	0.31	[{'connected_gene': 'PCSK5', 'score': 10.15}, {'connected_gene': 'RBM22P5', 'score': 0.28}, {'connected_gene': 'RFK', 'score': 0.19}]
chr9	GH09I076458	76458545	76462670	1.94	[{'connected_gene': 'GCNT1', 'score': 556.5}, {'connected_gene': 'RFK', 'score': 6.15}, {'connected_gene': 'ENSG00000233814', 'score': 0.26}, {'connected_gene': 'LOC105376093', 'score': 0.22}]
chr9	GH09I076470	76470803	76474200	1.03	[{'connected_gene': 'GCNT1', 'score': 9.22}, {'connected_gene': 'RFK', 'score': 7.79}, {'connected_gene': 'LOC105376093', 'score': 0.26}, {'connected_gene': 'ENSG00000233814', 'score': 0.23}]
chr9	GH09I076489	76489774	76491267	0.51	[{'connected_gene': 'GCNT1', 'score': 9.93}, {'connected_gene': 'RFK', 'score': 6.8}, {'connected_gene': 'LOC105376093', 'score': 0.31}, {'connected_gene': 'ENSG00000233814', 'score': 0.19}]
chr9	GH09I076378	76378144	76380444	0.73	[{'connected_gene': 'GCNT1', 'score': 8.53}, {'connected_gene': 'RFK', 'score': 0.37}, {'connected_gene': 'RBM22P5', 'score': 0.16}]
chr9	GH09I076303	76303085	76303234	0.54	[{'connected_gene': 'RBM22P5', 'score': 0.37}, {'connected_gene': 'RFK', 'score': 0.16}, {'connected_gene': 'PCSK5', 'score': 0.05}]
chr9	GH09I076320	76320796	76321954	0.69	[{'connected_gene': 'RBM22P5', 'score': 0.29}, {'connected_gene': 'RFK', 'score': 0.19}, {'connected_gene': 'PCSK5', 'score': 0.04}]
chr9	GH09I076314	76314668	76315362	0.2	[{'connected_gene': 'RBM22P5', 'score': 0.31}, {'connected_gene': 'RFK', 'score': 0.18}, {'connected_gene': 'PCSK5', 'score': 0.05}]
chr9	GH09I076298	76298865	76299009	0.38	[{'connected_gene': 'RBM22P5', 'score': 0.39}, {'connected_gene': 'RFK', 'score': 0.15}, {'connected_gene': 'PCSK5', 'score': 0.05}]
chr9	GH09I076524	76524993	76527665	0.46	[{'connected_gene': 'PIR37722', 'score': 550.77}, {'connected_gene': 'PIR34534', 'score': 550.77}, {'connected_gene': 'GCNT1', 'score': 5.17}, {'connected_gene': 'RFK', 'score': 4.74}, {'connected_gene': 'LOC105376093', 'score': 0.39}, {'connected_gene': 'PPIAP87', 'score': 0.34}]