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
ENST00000367194	[[204159468, 204159925], [204161901, 204162042], [204165503, 204165614]]	[[204159611, 204159925], [204161901, 204162004]]
NM_002256	[[204159468, 204159925], [204161901, 204162042], [204165503, 204165619]]	[[204159611, 204159925], [204161901, 204162004]]

Promoter

Chrom	Start	End	Description
chr1	204165610	204165626	CAGE_peak_1_at_KISS1_5end
chr1	204165736	204165747	CAGE_peak_3_at_KISS1_5end
chr1	204165751	204165766	CAGE_peak_2_at_KISS1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I204193	204193503	204200067	1.59	[{'connected_gene': 'KISS1', 'score': 550.77}, {'connected_gene': 'ZC3H11A', 'score': 96.84}, {'connected_gene': 'MDM4', 'score': 76.06}, {'connected_gene': 'ZBED6', 'score': 39.7}, {'connected_gene': 'PPP1R15B', 'score': 33.38}, {'connected_gene': 'SNRPE', 'score': 22.24}, {'connected_gene': 'ETNK2', 'score': 11.4}, {'connected_gene': 'ERLNC1', 'score': 10.79}, {'connected_gene': 'RPL13AP11', 'score': 10.26}, {'connected_gene': 'ENSG00000231691', 'score': 10.09}, {'connected_gene': 'PLEKHA6', 'score': 10.0}, {'connected_gene': 'LAX1', 'score': 9.9}, {'connected_gene': 'REN', 'score': 6.02}, {'connected_gene': 'LOC100420418', 'score': 0.39}, {'connected_gene': 'GOLT1A', 'score': 0.37}]
chr1	GH01I204189	204189921	204191981	0.88	[{'connected_gene': 'REN', 'score': 558.76}, {'connected_gene': 'ETNK2', 'score': 11.41}, {'connected_gene': 'ERLNC1', 'score': 10.81}, {'connected_gene': 'ENSG00000231691', 'score': 10.04}, {'connected_gene': 'PLEKHA6', 'score': 9.96}, {'connected_gene': 'NFASC', 'score': 6.68}, {'connected_gene': 'KISS1', 'score': 0.44}]