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
ENST00000367681	[[174968299, 174968825], [174973749, 174973969], [174975880, 174975977], [174976233, 174976333], [174977744, 174977842], [174979058, 174980851]]	[[174973863, 174973969], [174975880, 174975977], [174976233, 174976333], [174977744, 174977842], [174979058, 174979215]]
ENST00000426793	[[174968570, 174968825], [174969224, 174969331], [174973749, 174973886]]	[[174969316, 174969331], [174973749, 174973886]]
ENST00000461977	[[174968606, 174968825], [174973749, 174974104]]	None
ENST00000367679	[[174968868, 174969331], [174973749, 174973969], [174975880, 174975977], [174976233, 174976333], [174977744, 174977842], [174979058, 174980846]]	[[174969316, 174969331], [174973749, 174973969], [174975880, 174975977], [174976233, 174976333], [174977744, 174977842], [174979058, 174979215]]
ENST00000483307	[[174969080, 174969331], [174973749, 174974186]]	None
ENST00000473925	[[174969090, 174969331], [174973749, 174973969], [174975880, 174975977], [174976233, 174976333], [174977744, 174977890]]	None
ENST00000406752	[[174969316, 174969331], [174973749, 174973950], [174975880, 174975907]]	[[174969316, 174969331], [174973749, 174973950], [174975880, 174975907]]
ENST00000405362	[[174969348, 174969735], [174973749, 174973969], [174975880, 174975977], [174976233, 174976333], [174977744, 174977842], [174979058, 174979215]]	[[174973863, 174973969], [174975880, 174975977], [174976233, 174976333], [174977744, 174977842], [174979058, 174979215]]
ENST00000469173	[[174975718, 174976333], [174977744, 174978033]]	None
NM_001007214	[[174968570, 174968825], [174973749, 174973969], [174975880, 174975977], [174976233, 174976333], [174977744, 174977842], [174979058, 174981163]]	[[174973863, 174973969], [174975880, 174975977], [174976233, 174976333], [174977744, 174977842], [174979058, 174979215]]
NM_014412	[[174968891, 174969331], [174973749, 174973969], [174975880, 174975977], [174976233, 174976333], [174977744, 174977842], [174979058, 174981163]]	[[174969316, 174969331], [174973749, 174973969], [174975880, 174975977], [174976233, 174976333], [174977744, 174977842], [174979058, 174979215]]

Promoter

Chrom	Start	End	Description
chr1	174968538	174968547	CAGE_peak_12_at_CACYBP_5end
chr1	174968548	174968560	CAGE_peak_9_at_CACYBP_5end
chr1	174968564	174968577	CAGE_peak_5_at_CACYBP_5end
chr1	174968582	174968616	CAGE_peak_4_at_CACYBP_5end
chr1	174969054	174969143	CAGE_peak_2_at_CACYBP_5end
chr1	174969146	174969239	CAGE_peak_1_at_CACYBP_5end
chr1	174969248	174969257	CAGE_peak_7_at_CACYBP_5end
chr1	174969262	174969277	CAGE_peak_3_at_CACYBP_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I174963	174963169	174972327	2.18	[{'connected_gene': 'RABGAP1L', 'score': 568.44}, {'connected_gene': 'MRPS14', 'score': 22.0}, {'connected_gene': 'RNU6-307P', 'score': 11.49}, {'connected_gene': 'CACYBP', 'score': 11.34}, {'connected_gene': 'TNN', 'score': 4.49}, {'connected_gene': 'KIAA0040', 'score': 1.28}, {'connected_gene': 'LOC101928696', 'score': 0.39}]
chr1	GH01I175006	175006485	175009191	0.31	[{'connected_gene': 'RABGAP1L', 'score': 9.74}, {'connected_gene': 'LOC101928696', 'score': 7.97}, {'connected_gene': 'PIR47281', 'score': 0.77}, {'connected_gene': 'CACYBP', 'score': 0.44}, {'connected_gene': 'GC01M175022', 'score': 0.39}, {'connected_gene': 'ENSG00000206659', 'score': 0.39}]
chr1	GH01I174938	174938046	174939651	1.19	[{'connected_gene': 'CACYBP', 'score': 11.07}, {'connected_gene': 'RC3H1', 'score': 4.43}, {'connected_gene': 'RPS26P12', 'score': 0.37}, {'connected_gene': 'LOC101928696', 'score': 0.37}, {'connected_gene': 'RABGAP1L', 'score': 0.03}]
chr1	GH01I174996	174996144	175002983	2.35	[{'connected_gene': 'LOC105371622', 'score': 550.77}, {'connected_gene': 'CACYBP', 'score': 550.77}, {'connected_gene': 'RC3H1', 'score': 58.41}, {'connected_gene': 'LOC101928696', 'score': 8.01}, {'connected_gene': 'RNU6-307P', 'score': 0.77}, {'connected_gene': 'PIR47281', 'score': 0.44}]
chr1	GH01I175003	175003001	175003400	0.87	[{'connected_gene': 'PIR47281', 'score': 550.77}, {'connected_gene': 'LOC105371622', 'score': 0.77}, {'connected_gene': 'CACYBP', 'score': 0.77}]