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
ENST00000255039	[[156589085, 156589327], [156589809, 156589950], [156593258, 156593367], [156593598, 156593952], [156594142, 156594259], [156594392, 156594575], [156594892, 156595517]]	[[156593282, 156593367], [156593598, 156593952], [156594142, 156594259], [156594392, 156594575], [156594892, 156595176]]
ENST00000487988	[[156589122, 156589327], [156589760, 156589950], [156593258, 156593582]]	None
ENST00000456112	[[156589215, 156589327], [156589760, 156589950], [156593258, 156593367], [156593598, 156593952], [156594142, 156594259]]	[[156593282, 156593367], [156593598, 156593952], [156594142, 156594259]]
ENST00000482204	[[156589237, 156589327], [156589809, 156589950], [156593258, 156593706]]	None
ENST00000494218	[[156593855, 156594259], [156594392, 156594575], [156594892, 156595327]]	None
NM_021817	[[156589085, 156589327], [156589809, 156589950], [156593258, 156593367], [156593598, 156593952], [156594142, 156594259], [156594392, 156594575], [156594892, 156595517]]	[[156593282, 156593367], [156593598, 156593952], [156594142, 156594259], [156594392, 156594575], [156594892, 156595176]]

Promoter

Chrom	Start	End	Description
chr1	156589051	156589089	CAGE_peak_5_at_HAPLN2_5end
chr1	156589198	156589234	CAGE_peak_1_at_HAPLN2_5end
chr1	156589246	156589262	CAGE_peak_2_at_HAPLN2_5end
chr1	156589263	156589269	CAGE_peak_3_at_HAPLN2_5end
chr1	156589270	156589281	CAGE_peak_4_at_HAPLN2_5end
chr1	156589297	156589300	CAGE_peak_9_at_HAPLN2_5end
chr1	156593951	156593983	CAGE_peak_6_at_HAPLN2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I156164	156164046	156164092	0.55	[{'connected_gene': 'MEX3A', 'score': 12.58}, {'connected_gene': 'ENSG00000252236', 'score': 12.47}, {'connected_gene': 'SLC25A44', 'score': 12.47}, {'connected_gene': 'TSACC', 'score': 12.19}, {'connected_gene': 'LMNA', 'score': 11.24}, {'connected_gene': 'GLMP', 'score': 10.54}, {'connected_gene': 'CCT3', 'score': 9.84}, {'connected_gene': 'RHBG', 'score': 2.2}, {'connected_gene': 'C1orf61', 'score': 2.19}, {'connected_gene': 'PAQR6', 'score': 1.7}, {'connected_gene': 'YY1AP1', 'score': 1.61}, {'connected_gene': 'HAPLN2', 'score': 1.28}, {'connected_gene': 'GC01P156160', 'score': 0.77}, {'connected_gene': 'GC01P156159', 'score': 0.77}, {'connected_gene': 'SEMA4A', 'score': 0.37}, {'connected_gene': 'GC01M156192', 'score': 0.31}]
chr1	GH01I156612	156612869	156612918	0.2	[{'connected_gene': 'HAPLN2', 'score': 0.44}, {'connected_gene': 'GPATCH4', 'score': 0.39}]
chr1	GH01I156619	156619386	156619445	0.89	[{'connected_gene': 'HAPLN2', 'score': 550.77}, {'connected_gene': 'LOC101928177', 'score': 0.77}]
chr1	GH01I156608	156608169	156608358	0.8	[{'connected_gene': 'GPATCH4', 'score': 0.44}, {'connected_gene': 'HAPLN2', 'score': 0.39}]
chr1	GH01I156609	156609189	156609318	0.56	[{'connected_gene': 'GPATCH4', 'score': 0.44}, {'connected_gene': 'HAPLN2', 'score': 0.44}]
chr1	GH01I156656	156656585	156671932	2.25	[{'connected_gene': 'GON4L', 'score': 89.12}, {'connected_gene': 'KHDC4', 'score': 63.33}, {'connected_gene': 'RRNAD1', 'score': 54.29}, {'connected_gene': 'LOC246784', 'score': 53.85}, {'connected_gene': 'PRCC', 'score': 38.83}, {'connected_gene': 'MSTO2P', 'score': 38.78}, {'connected_gene': 'LMNA', 'score': 31.82}, {'connected_gene': 'ISG20L2', 'score': 24.41}, {'connected_gene': 'YY1AP1', 'score': 23.53}, {'connected_gene': 'CCT3', 'score': 18.02}, {'connected_gene': 'SYT11', 'score': 14.22}, {'connected_gene': 'TSACC', 'score': 11.68}, {'connected_gene': 'ENSG00000272405', 'score': 11.0}, {'connected_gene': 'SSR2', 'score': 10.89}, {'connected_gene': 'DAP3', 'score': 10.83}, {'connected_gene': 'GLMP', 'score': 10.74}, {'connected_gene': 'BGLAP', 'score': 10.24}, {'connected_gene': 'PEAR1', 'score': 10.18}, {'connected_gene': 'PMF1', 'score': 9.85}, {'connected_gene': 'ETV3', 'score': 9.8}, {'connected_gene': 'RIT1', 'score': 9.77}, {'connected_gene': 'NES', 'score': 7.26}, {'connected_gene': 'ENSG00000272068', 'score': 7.19}, {'connected_gene': 'GPATCH4', 'score': 2.41}, {'connected_gene': 'HAPLN2', 'score': 1.44}, {'connected_gene': 'PAQR6', 'score': 1.36}, {'connected_gene': 'GC01P156668', 'score': 0.77}, {'connected_gene': 'LOC105371453', 'score': 0.77}, {'connected_gene': 'BCAN', 'score': 0.34}]
chr1	GH01I156450	156450985	156452715	0.68	[{'connected_gene': 'MIR9-1', 'score': 12.05}, {'connected_gene': 'HAPLN2', 'score': 11.2}, {'connected_gene': 'CCT3', 'score': 11.06}, {'connected_gene': 'RHBG', 'score': 11.05}, {'connected_gene': 'BCAN', 'score': 10.83}, {'connected_gene': 'NAXE', 'score': 10.76}, {'connected_gene': 'TSACC', 'score': 10.71}, {'connected_gene': 'ENSG00000236947', 'score': 0.77}, {'connected_gene': 'GC01M156440', 'score': 0.44}, {'connected_gene': 'C1orf61', 'score': 0.37}]
chr1	GH01I156453	156453201	156453600	0.38	[{'connected_gene': 'MIR9-1', 'score': 12.05}, {'connected_gene': 'HAPLN2', 'score': 11.2}, {'connected_gene': 'CCT3', 'score': 11.05}, {'connected_gene': 'RHBG', 'score': 11.05}, {'connected_gene': 'BCAN', 'score': 10.83}, {'connected_gene': 'NAXE', 'score': 10.76}, {'connected_gene': 'TSACC', 'score': 10.7}, {'connected_gene': 'ENSG00000236947', 'score': 0.77}, {'connected_gene': 'GC01M156440', 'score': 0.44}, {'connected_gene': 'C1orf61', 'score': 0.37}]
chr1	GH01I156581	156581164	156584569	0.94	[{'connected_gene': 'TTC24', 'score': 14.77}, {'connected_gene': 'NAXE', 'score': 12.9}, {'connected_gene': 'GPATCH4', 'score': 12.3}, {'connected_gene': 'SMG5', 'score': 5.42}, {'connected_gene': 'HAPLN2', 'score': 5.0}]
chr1	GH01I156559	156559789	156560038	0.46	[{'connected_gene': 'NAXE', 'score': 17.73}, {'connected_gene': 'HAPLN2', 'score': 10.84}, {'connected_gene': 'C1orf61', 'score': 10.42}, {'connected_gene': 'MIR9-1', 'score': 10.24}, {'connected_gene': 'RRNAD1', 'score': 9.76}, {'connected_gene': 'ISG20L2', 'score': 9.76}, {'connected_gene': 'IQGAP3', 'score': 0.39}, {'connected_gene': 'GC01P156524', 'score': 0.28}]
chr1	GH01I156624	156624144	156626237	1.16	[{'connected_gene': 'NAXE', 'score': 23.47}, {'connected_gene': 'RRNAD1', 'score': 23.28}, {'connected_gene': 'ENSG00000223356', 'score': 10.81}, {'connected_gene': 'C1orf61', 'score': 10.66}, {'connected_gene': 'MIR9-1', 'score': 10.66}, {'connected_gene': 'ISG20L2', 'score': 10.41}, {'connected_gene': 'GPATCH4', 'score': 5.96}, {'connected_gene': 'LOC101928177', 'score': 0.77}, {'connected_gene': 'HAPLN2', 'score': 0.44}, {'connected_gene': 'ENSG00000272068', 'score': 0.37}]
chr1	GH01I156551	156551085	156554419	0.95	[{'connected_gene': 'NAXE', 'score': 19.02}, {'connected_gene': 'MEF2D', 'score': 13.21}, {'connected_gene': 'HAPLN2', 'score': 11.21}, {'connected_gene': 'BCAN', 'score': 10.7}, {'connected_gene': 'CCT3', 'score': 10.5}, {'connected_gene': 'C1orf61', 'score': 10.4}, {'connected_gene': 'MIR9-1', 'score': 10.39}, {'connected_gene': 'TSACC', 'score': 10.36}, {'connected_gene': 'SMG5', 'score': 4.59}, {'connected_gene': 'IQGAP3', 'score': 0.37}, {'connected_gene': 'GC01P156524', 'score': 0.31}]
chr1	GH01I156463	156463148	156467402	0.87	[{'connected_gene': 'C1orf61', 'score': 11.67}, {'connected_gene': 'MIR9-1', 'score': 11.64}, {'connected_gene': 'NAXE', 'score': 11.12}, {'connected_gene': 'GPATCH4', 'score': 11.11}, {'connected_gene': 'HAPLN2', 'score': 10.9}, {'connected_gene': 'MRPL24', 'score': 9.2}, {'connected_gene': 'HDGF', 'score': 9.2}, {'connected_gene': 'ENSG00000223356', 'score': 9.17}, {'connected_gene': 'MEF2D', 'score': 8.09}, {'connected_gene': 'GC01M156440', 'score': 0.77}, {'connected_gene': 'ENSG00000206651', 'score': 0.37}, {'connected_gene': 'GC01M156484', 'score': 0.37}]
chr1	GH01I156616	156616356	156616917	1.42	[{'connected_gene': 'MSTO2P', 'score': 18.2}, {'connected_gene': 'KHDC4', 'score': 14.45}, {'connected_gene': 'HAPLN2', 'score': 6.94}, {'connected_gene': 'PAQR6', 'score': 4.27}, {'connected_gene': 'BCAN', 'score': 3.19}, {'connected_gene': 'C1orf61', 'score': 1.63}, {'connected_gene': 'LOC101928177', 'score': 0.44}, {'connected_gene': 'GPATCH4', 'score': 0.37}]
chr1	GH01I156456	156456009	156458743	2.13	[{'connected_gene': 'ENSG00000236947', 'score': 550.77}, {'connected_gene': 'KHDC4', 'score': 55.62}, {'connected_gene': 'GON4L', 'score': 51.41}, {'connected_gene': 'ENSG00000271267', 'score': 48.21}, {'connected_gene': 'RRNAD1', 'score': 35.31}, {'connected_gene': 'LOC246784', 'score': 32.92}, {'connected_gene': 'LMNA', 'score': 19.17}, {'connected_gene': 'ASH1L', 'score': 19.06}, {'connected_gene': 'MSTO2P', 'score': 18.56}, {'connected_gene': 'PRCC', 'score': 13.27}, {'connected_gene': 'ARHGEF2', 'score': 11.87}, {'connected_gene': 'C1orf61', 'score': 11.71}, {'connected_gene': 'MIR9-1', 'score': 11.65}, {'connected_gene': 'SSR2', 'score': 11.36}, {'connected_gene': 'NAXE', 'score': 11.11}, {'connected_gene': 'GPATCH4', 'score': 11.1}, {'connected_gene': 'HAPLN2', 'score': 10.89}, {'connected_gene': 'MSTO1', 'score': 10.36}, {'connected_gene': 'GLMP', 'score': 10.24}, {'connected_gene': 'RIT1', 'score': 10.18}, {'connected_gene': 'CCT3', 'score': 9.9}, {'connected_gene': 'MRPL24', 'score': 9.2}, {'connected_gene': 'HDGF', 'score': 9.2}, {'connected_gene': 'MEF2D', 'score': 6.52}, {'connected_gene': 'SLC25A44', 'score': 4.91}, {'connected_gene': 'TSACC', 'score': 1.67}, {'connected_gene': 'SH2D2A', 'score': 1.64}, {'connected_gene': 'PMF1', 'score': 1.17}, {'connected_gene': 'GC01M156440', 'score': 0.77}]
chr1	GH01I156460	156460915	156462609	1.16	[{'connected_gene': 'GC01M156440', 'score': 550.77}, {'connected_gene': 'C1orf61', 'score': 11.69}, {'connected_gene': 'MIR9-1', 'score': 11.64}, {'connected_gene': 'GPATCH4', 'score': 11.11}, {'connected_gene': 'NAXE', 'score': 11.11}, {'connected_gene': 'HAPLN2', 'score': 10.9}, {'connected_gene': 'MRPL24', 'score': 9.2}, {'connected_gene': 'HDGF', 'score': 9.2}, {'connected_gene': 'ENSG00000206651', 'score': 0.34}, {'connected_gene': 'GC01M156484', 'score': 0.34}]
chr1	GH01I156461	156460737	156460778	1.08	[{'connected_gene': 'GC01M156440', 'score': 550.77}, {'connected_gene': 'C1orf61', 'score': 11.69}, {'connected_gene': 'MIR9-1', 'score': 11.64}, {'connected_gene': 'NAXE', 'score': 11.11}, {'connected_gene': 'GPATCH4', 'score': 11.1}, {'connected_gene': 'HAPLN2', 'score': 10.9}, {'connected_gene': 'MRPL24', 'score': 9.2}, {'connected_gene': 'HDGF', 'score': 9.2}, {'connected_gene': 'ENSG00000206651', 'score': 0.34}, {'connected_gene': 'GC01M156484', 'score': 0.34}]