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
ENST00000226382	[[41746098, 41748339], [41749365, 41749553], [41750386, 41750987]]	[[41747823, 41748339], [41749365, 41749553], [41750386, 41750627]]
ENST00000510424	[[41748049, 41748339], [41749365, 41749553], [41749664, 41749724]]	[[41748049, 41748339], [41749365, 41749553], [41749664, 41749724]]
NM_003924	[[41746098, 41748339], [41749365, 41749553], [41750386, 41750987]]	[[41747823, 41748339], [41749365, 41749553], [41750386, 41750627]]

Promoter

Chrom	Start	End	Description
chr4	41749788	41749795	CAGE_peak_10_at_PHOX2B_5end
chr4	41750020	41750029	CAGE_peak_9_at_PHOX2B_5end
chr4	41750047	41750056	CAGE_peak_7_at_PHOX2B_5end
chr4	41750057	41750078	CAGE_peak_3_at_PHOX2B_5end
chr4	41750731	41750748	CAGE_peak_1_at_PHOX2B_5end
chr4	41750793	41750804	CAGE_peak_5_at_PHOX2B_5end
chr4	41750839	41750850	CAGE_peak_2_at_PHOX2B_5end
chr4	41750860	41750867	CAGE_peak_8_at_PHOX2B_5end
chr4	41750895	41750904	CAGE_peak_6_at_PHOX2B_5end
chr4	41750922	41750939	CAGE_peak_4_at_PHOX2B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I041746	41746346	41751745	1.59	[{'connected_gene': 'PHOX2B', 'score': 550.77}, {'connected_gene': 'ENSG00000249122', 'score': 550.77}, {'connected_gene': 'LOC105374425', 'score': 550.77}]
chr4	GH04I041873	41873896	41874265	0.52	[{'connected_gene': 'PHOX2B', 'score': 30.81}, {'connected_gene': 'LOC105374421', 'score': 11.11}, {'connected_gene': 'LIMCH1', 'score': 11.05}, {'connected_gene': 'LOC105374425', 'score': 10.27}, {'connected_gene': 'ENSG00000249122', 'score': 10.27}, {'connected_gene': 'LINC00682', 'score': 0.44}, {'connected_gene': 'HMGB1P28', 'score': 0.29}]
chr4	GH04I041878	41878910	41879176	0.4	[{'connected_gene': 'PHOX2B', 'score': 18.16}, {'connected_gene': 'LINC00682', 'score': 0.77}, {'connected_gene': 'HMGB1P28', 'score': 0.29}]
chr4	GH04I041709	41709345	41711181	0.86	[{'connected_gene': 'LIMCH1', 'score': 11.61}, {'connected_gene': 'PHOX2B', 'score': 11.05}, {'connected_gene': 'LOC105374425', 'score': 11.05}, {'connected_gene': 'ENSG00000249122', 'score': 11.04}, {'connected_gene': 'RNU1-49P', 'score': 10.17}, {'connected_gene': 'LOC105374421', 'score': 0.39}, {'connected_gene': 'OR5M14P', 'score': 0.39}]
chr4	GH04I041872	41872972	41873205	0.51	[{'connected_gene': 'LOC105374421', 'score': 11.11}, {'connected_gene': 'LIMCH1', 'score': 11.05}, {'connected_gene': 'PHOX2B', 'score': 10.27}, {'connected_gene': 'ENSG00000249122', 'score': 10.27}, {'connected_gene': 'LOC105374425', 'score': 10.27}, {'connected_gene': 'LINC00682', 'score': 0.44}, {'connected_gene': 'HMGB1P28', 'score': 0.31}]
chr4	GH04I041884	41884058	41885093	1.05	[{'connected_gene': 'LINC00682', 'score': 550.77}, {'connected_gene': 'PHOX2B', 'score': 7.44}, {'connected_gene': 'ENSG00000249887', 'score': 0.28}, {'connected_gene': 'LOC105374426', 'score': 0.23}]
chr4	GH04I041856	41856993	41857795	0.93	[{'connected_gene': 'UCHL1-AS1', 'score': 9.67}, {'connected_gene': 'UCHL1', 'score': 9.67}, {'connected_gene': 'PHOX2B', 'score': 4.95}, {'connected_gene': 'HMGB1P28', 'score': 0.39}, {'connected_gene': 'LINC00682', 'score': 0.31}]