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
ENST00000344956	[[45147097, 45147475], [45150494, 45150842], [45153080, 45153377], [45157168, 45157286], [45161029, 45161178], [45164558, 45164590], [45165006, 45166850]]	[[45147396, 45147475], [45150494, 45150842], [45153080, 45153377], [45157168, 45157286], [45161029, 45161178], [45164558, 45164590], [45165006, 45165078]]
ENST00000425690	[[45147097, 45147475], [45150494, 45150842], [45153080, 45153377], [45157168, 45157286], [45161029, 45161178], [45162009, 45162168], [45164558, 45164590], [45165006, 45166850]]	[[45147396, 45147475], [45150494, 45150842], [45153080, 45153377], [45157168, 45157286], [45161029, 45161178], [45162009, 45162168], [45164558, 45164590], [45165006, 45165078]]
ENST00000403059	[[45147209, 45147475], [45150494, 45150842], [45153080, 45153377], [45157168, 45157286], [45161029, 45161178], [45162009, 45162033], [45164558, 45164590], [45165006, 45166850]]	[[45147396, 45147475], [45150494, 45150842], [45153080, 45153377], [45157168, 45157286], [45161029, 45161178], [45162009, 45162033], [45164558, 45164590], [45165006, 45165078]]
ENST00000187830	[[45147213, 45147475], [45150571, 45150842], [45153080, 45153377], [45157168, 45157286], [45161029, 45161178], [45162009, 45162168], [45164558, 45164590], [45165006, 45166850]]	[[45147396, 45147475], [45150571, 45150627]]
ENST00000406449	[[45147396, 45147475], [45150494, 45150842], [45153080, 45153377], [45157168, 45157286], [45161029, 45161178], [45162009, 45162362]]	[[45147396, 45147475], [45150494, 45150842], [45153080, 45153377], [45157168, 45157286], [45161029, 45161178], [45162009, 45162197]]
ENST00000587785	[[45153312, 45153377], [45157168, 45157286], [45164558, 45164590], [45165006, 45165147]]	[[45153312, 45153377], [45157168, 45157286], [45164558, 45164586]]
NM_001135770	[[45147097, 45147475], [45150494, 45150842], [45153080, 45153377], [45157168, 45157286], [45161029, 45161178], [45162009, 45162362]]	[[45147396, 45147475], [45150494, 45150842], [45153080, 45153377], [45157168, 45157286], [45161029, 45161178], [45162009, 45162197]]
NM_001135769	[[45147097, 45147475], [45150494, 45150842], [45153080, 45153377], [45157168, 45157286], [45161029, 45161178], [45164558, 45164590], [45165006, 45169429]]	[[45147396, 45147475], [45150494, 45150842], [45153080, 45153377], [45157168, 45157286], [45161029, 45161178], [45164558, 45164590], [45165006, 45165078]]
NM_001135768	[[45147097, 45147475], [45150494, 45150842], [45153080, 45153377], [45157168, 45157286], [45161029, 45161178], [45162009, 45162033], [45164558, 45164590], [45165006, 45169429]]	[[45147396, 45147475], [45150494, 45150842], [45153080, 45153377], [45157168, 45157286], [45161029, 45161178], [45162009, 45162033], [45164558, 45164590], [45165006, 45165078]]
NM_006505	[[45147097, 45147475], [45150494, 45150842], [45153080, 45153377], [45157168, 45157286], [45161029, 45161178], [45162009, 45162168], [45164558, 45164590], [45165006, 45169429]]	[[45147396, 45147475], [45150494, 45150842], [45153080, 45153377], [45157168, 45157286], [45161029, 45161178], [45162009, 45162168], [45164558, 45164590], [45165006, 45165078]]

Promoter

Chrom	Start	End	Description
chr19	45147143	45147223	CAGE_peak_1_at_PVR_5end
chr19	45147235	45147246	CAGE_peak_2_at_PVR_5end
chr19	45147313	45147336	CAGE_peak_3_at_PVR_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I044633	44633825	44645401	2.39	[{'connected_gene': 'PVR', 'score': 578.82}, {'connected_gene': 'CEACAM19', 'score': 22.11}, {'connected_gene': 'ENSG00000267114', 'score': 12.5}, {'connected_gene': 'ZNF223', 'score': 11.59}, {'connected_gene': 'ENSG00000252200', 'score': 11.22}, {'connected_gene': 'ZNF227', 'score': 10.65}, {'connected_gene': 'ZNF235', 'score': 10.31}, {'connected_gene': 'ZNF226', 'score': 9.92}, {'connected_gene': 'CEACAM22P', 'score': 4.84}, {'connected_gene': 'IGSF23', 'score': 0.31}, {'connected_gene': 'ENSG00000266903', 'score': 0.18}]
chr19	GH19I044647	44647201	44650349	0.94	[{'connected_gene': 'PVR', 'score': 22.34}, {'connected_gene': 'CEACAM19', 'score': 7.35}, {'connected_gene': 'CEACAM22P', 'score': 6.0}, {'connected_gene': 'MIR4531', 'score': 0.77}, {'connected_gene': 'ENSG00000266903', 'score': 0.2}]
chr19	GH19I044595	44595660	44599829	0.95	[{'connected_gene': 'PVR', 'score': 6.75}, {'connected_gene': 'CEACAM19', 'score': 6.65}, {'connected_gene': 'IGSF23', 'score': 0.37}, {'connected_gene': 'CEACAM22P', 'score': 0.34}, {'connected_gene': 'ENSG00000224366', 'score': 0.31}]
chr19	GH19I044601	44601454	44604504	1.06	[{'connected_gene': 'PVR', 'score': 6.82}, {'connected_gene': 'CEACAM19', 'score': 5.01}, {'connected_gene': 'IGSF23', 'score': 0.39}, {'connected_gene': 'CEACAM22P', 'score': 0.37}, {'connected_gene': 'ENSG00000224366', 'score': 0.29}]
chr19	GH19I044657	44657136	44657854	0.78	[{'connected_gene': 'PVR', 'score': 25.31}, {'connected_gene': 'CEACAM19', 'score': 0.77}, {'connected_gene': 'MIR4531', 'score': 0.77}, {'connected_gene': 'ENSG00000266903', 'score': 0.21}]
chr19	GH19I044624	44624925	44627905	1.47	[{'connected_gene': 'PVR', 'score': 11.5}, {'connected_gene': 'CEACAM22P', 'score': 10.39}, {'connected_gene': 'NECTIN2', 'score': 2.03}, {'connected_gene': 'GEMIN7', 'score': 1.4}, {'connected_gene': 'IGSF23', 'score': 0.39}]
chr19	GH19I044606	44606604	44609661	1	[{'connected_gene': 'PVR', 'score': 22.22}, {'connected_gene': 'CEACAM22P', 'score': 10.53}, {'connected_gene': 'CEACAM19', 'score': 4.92}, {'connected_gene': 'IGSF23', 'score': 0.44}, {'connected_gene': 'ENSG00000224366', 'score': 0.28}]
chr19	GH19I044622	44622568	44624177	0.89	[{'connected_gene': 'PVR', 'score': 23.67}, {'connected_gene': 'CEACAM22P', 'score': 10.22}, {'connected_gene': 'IGSF23', 'score': 0.44}]
chr19	GH19I044688	44688809	44689808	1.05	[{'connected_gene': 'CEACAM19', 'score': 17.95}, {'connected_gene': 'ZNF180', 'score': 14.25}, {'connected_gene': 'ZNF45', 'score': 11.41}, {'connected_gene': 'PVR', 'score': 6.93}, {'connected_gene': 'ENSG00000266903', 'score': 6.49}, {'connected_gene': 'GC19P044691', 'score': 0.77}, {'connected_gene': 'GC19P044686', 'score': 0.77}]
chr19	GH19I044646	44646139	44646528	0.72	[{'connected_gene': 'CEACAM19', 'score': 23.48}, {'connected_gene': 'PVR', 'score': 0.77}, {'connected_gene': 'MIR4531', 'score': 0.44}, {'connected_gene': 'ENSG00000266903', 'score': 0.19}]
chr19	GH19I044662	44662054	44663526	0.79	[{'connected_gene': 'CEACAM19', 'score': 574.8}, {'connected_gene': 'ENSG00000279095', 'score': 550.77}, {'connected_gene': 'PVR', 'score': 5.57}, {'connected_gene': 'ENSG00000266903', 'score': 0.22}]
chr19	GH19I044610	44610626	44616547	1.59	[{'connected_gene': 'IGSF23', 'score': 550.77}, {'connected_gene': 'CEACAM22P', 'score': 11.27}, {'connected_gene': 'PVR', 'score': 10.13}, {'connected_gene': 'CEACAM19', 'score': 8.35}, {'connected_gene': 'ENSG00000224366', 'score': 0.26}]
chr19	GH19I044653	44653548	44655036	0.78	[{'connected_gene': 'MIR4531', 'score': 550.77}, {'connected_gene': 'PVR', 'score': 21.1}, {'connected_gene': 'CEACAM19', 'score': 6.66}, {'connected_gene': 'ENSG00000266903', 'score': 0.21}]
chr19	GH19I044683	44683710	44687200	1.31	[{'connected_gene': 'GC19P044686', 'score': 550.77}, {'connected_gene': 'CEACAM19', 'score': 18.01}, {'connected_gene': 'PVR', 'score': 14.27}, {'connected_gene': 'ZNF180', 'score': 14.25}, {'connected_gene': 'ENSG00000252200', 'score': 11.92}, {'connected_gene': 'ZNF45', 'score': 11.41}, {'connected_gene': 'RELB', 'score': 8.85}, {'connected_gene': 'ENSG00000266903', 'score': 7.75}, {'connected_gene': 'BCL3', 'score': 5.98}, {'connected_gene': 'CLASRP', 'score': 3.61}, {'connected_gene': 'BLOC1S3', 'score': 1.86}, {'connected_gene': 'ENSG00000279095', 'score': 0.34}]
chr19	GH19I044570	44570841	44572624	1.05	[{'connected_gene': 'ENSG00000224366', 'score': 550.77}, {'connected_gene': 'CEACAM22P', 'score': 7.38}, {'connected_gene': 'PVR', 'score': 6.0}, {'connected_gene': 'IGSF23', 'score': 0.26}]