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
ENST00000355739	[[103497193, 103498704], [103504467, 103504643], [103506106, 103506222], [103506637, 103506724], [103508401, 103508462], [103510624, 103510768], [103513856, 103514064], [103514379, 103515453], [103518016, 103518261], [103518611, 103518731], [103518981, 103519195], [103520462, 103520607], [103524547, 103524748], [103525608, 103525693], [103527656, 103528345]]	[[103498616, 103498704], [103504467, 103504643], [103506106, 103506222], [103506637, 103506724], [103508401, 103508462], [103510624, 103510768], [103513856, 103514064], [103514379, 103515453], [103518016, 103518261], [103518611, 103518731], [103518981, 103519195], [103520462, 103520607], [103524547, 103524748], [103525608, 103525693], [103527656, 103528253]]
ENST00000535557	[[103498173, 103498704], [103504467, 103504643], [103506106, 103506222], [103506637, 103506724], [103508401, 103508462], [103510624, 103510768], [103511260, 103511287]]	[[103498616, 103498704], [103504467, 103504643], [103506106, 103506222], [103506637, 103506724], [103508401, 103508462], [103510624, 103510768], [103511260, 103511287]]
ENST00000472151	[[103498398, 103498664], [103501467, 103501544], [103504467, 103504643], [103506106, 103506222]]	[[103498616, 103498664], [103501467, 103501544], [103504467, 103504474]]
ENST00000375958	[[103498461, 103498704], [103504467, 103504643], [103506106, 103506283]]	None
ENST00000375954	[[103517067, 103518731], [103518981, 103519195], [103520462, 103520607], [103524547, 103524748], [103525608, 103525693], [103527656, 103528333]]	[[103518713, 103518731], [103518981, 103519195], [103520462, 103520607], [103524547, 103524748], [103525608, 103525693], [103527656, 103528253]]
ENST00000481099	[[103518292, 103518731], [103518981, 103519195], [103520462, 103520607]]	None
ENST00000472247	[[103527084, 103527208], [103527656, 103528242]]	None
NM_000123	[[103498190, 103498704], [103504467, 103504643], [103506106, 103506222], [103506637, 103506724], [103508401, 103508462], [103510624, 103510768], [103513856, 103514064], [103514379, 103515453], [103518016, 103518261], [103518611, 103518731], [103518981, 103519195], [103520462, 103520607], [103524547, 103524748], [103525608, 103525693], [103527656, 103528351]]	[[103498616, 103498704], [103504467, 103504643], [103506106, 103506222], [103506637, 103506724], [103508401, 103508462], [103510624, 103510768], [103513856, 103514064], [103514379, 103515453], [103518016, 103518261], [103518611, 103518731], [103518981, 103519195], [103520462, 103520607], [103524547, 103524748], [103525608, 103525693], [103527656, 103528253]]

Promoter

Chrom	Start	End	Description
chr13	103498143	103498163	CAGE_peak_4_at_ERCC5_5end
chr13	103498186	103498212	CAGE_peak_2_at_ERCC5_5end
chr13	103498238	103498286	CAGE_peak_3_at_ERCC5_5end
chr13	103498356	103498369	CAGE_peak_5_at_ERCC5_5end
chr13	103498370	103498458	CAGE_peak_1_at_ERCC5_5end
chr13	103498460	103498471	CAGE_peak_7_at_ERCC5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I102772	102772425	102774978	1.93	[{'connected_gene': 'TEX30', 'score': 550.77}, {'connected_gene': 'PIR36999', 'score': 550.77}, {'connected_gene': 'ERCC5', 'score': 28.49}, {'connected_gene': 'TPP2', 'score': 25.19}, {'connected_gene': 'METTL21EP', 'score': 6.29}]
chr13	GH13I102594	102594713	102599922	2.53	[{'connected_gene': 'TPP2', 'score': 570.71}, {'connected_gene': 'ERCC5', 'score': 20.71}, {'connected_gene': 'METTL21C', 'score': 7.86}, {'connected_gene': 'GC13P102663', 'score': 0.2}]
chr13	GH13I102759	102759733	102759832	0.22	[{'connected_gene': 'CCDC168', 'score': 596.07}, {'connected_gene': 'LOC105370337', 'score': 550.77}, {'connected_gene': 'BIVM', 'score': 12.23}, {'connected_gene': 'KDELC1', 'score': 12.23}, {'connected_gene': 'ERCC5', 'score': 9.78}, {'connected_gene': 'TEX30', 'score': 2.15}]
chr13	GH13I102760	102759053	102759112	0.5	[{'connected_gene': 'CCDC168', 'score': 550.77}, {'connected_gene': 'LOC105370337', 'score': 550.77}, {'connected_gene': 'BIVM', 'score': 11.04}, {'connected_gene': 'ERCC5', 'score': 9.78}]
chr13	GH13I102822	102822954	102825092	0.31	[{'connected_gene': 'CCDC168', 'score': 10.53}, {'connected_gene': 'LINC00283', 'score': 10.52}, {'connected_gene': 'ERCC5', 'score': 9.96}, {'connected_gene': 'METTL21EP', 'score': 9.91}, {'connected_gene': 'METTL21C', 'score': 9.74}, {'connected_gene': 'ENSG00000272542', 'score': 9.23}, {'connected_gene': 'RNY5P8', 'score': 0.77}, {'connected_gene': 'GC13P102835', 'score': 0.39}, {'connected_gene': 'BIVM-ERCC5', 'score': 0.34}, {'connected_gene': 'BIVM', 'score': 0.34}]
chr13	GH13I102853	102853378	102855446	0.38	[{'connected_gene': 'CCDC168', 'score': 10.47}, {'connected_gene': 'LINC00283', 'score': 10.45}, {'connected_gene': 'METTL21EP', 'score': 6.47}, {'connected_gene': 'BIVM', 'score': 6.05}, {'connected_gene': 'ERCC5', 'score': 0.44}, {'connected_gene': 'GC13P102835', 'score': 0.37}, {'connected_gene': 'GC13M102871', 'score': 0.37}, {'connected_gene': 'BIVM-ERCC5', 'score': 0.22}]
chr13	GH13I102830	102830390	102831619	1.02	[{'connected_gene': 'BIVM', 'score': 12.67}, {'connected_gene': 'ERCC5', 'score': 11.95}, {'connected_gene': 'TEX30', 'score': 11.19}, {'connected_gene': 'LINC00283', 'score': 10.28}, {'connected_gene': 'GC13P102835', 'score': 0.77}, {'connected_gene': 'RNY5P8', 'score': 0.39}, {'connected_gene': 'BIVM-ERCC5', 'score': 0.29}]
chr13	GH13I102606	102606155	102606887	0.82	[{'connected_gene': 'BIVM', 'score': 10.68}, {'connected_gene': 'ERCC5', 'score': 10.66}, {'connected_gene': 'LINC00283', 'score': 10.22}, {'connected_gene': 'CCDC168', 'score': 10.21}, {'connected_gene': 'METTL21C', 'score': 6.75}, {'connected_gene': 'TPP2', 'score': 0.44}, {'connected_gene': 'GC13P102663', 'score': 0.22}]
chr13	GH13I102776	102776142	102777178	0.2	[{'connected_gene': 'BIVM', 'score': 10.82}, {'connected_gene': 'ERCC5', 'score': 10.68}, {'connected_gene': 'LINC00283', 'score': 10.67}, {'connected_gene': 'METTL21EP', 'score': 5.91}, {'connected_gene': 'TEX30', 'score': 0.77}]
chr13	GH13I102771	102771001	102771200	0.2	[{'connected_gene': 'BIVM', 'score': 11.96}, {'connected_gene': 'LINC00283', 'score': 10.97}, {'connected_gene': 'ERCC5', 'score': 10.48}, {'connected_gene': 'TEX30', 'score': 0.77}, {'connected_gene': 'PIR36999', 'score': 0.77}, {'connected_gene': 'LOC105370337', 'score': 0.39}]
chr13	GH13I102778	102778977	102780894	0.49	[{'connected_gene': 'ERCC5', 'score': 16.41}, {'connected_gene': 'CCDC168', 'score': 10.71}, {'connected_gene': 'LINC00283', 'score': 10.65}, {'connected_gene': 'TEX30', 'score': 0.44}, {'connected_gene': 'BIVM', 'score': 0.37}]
chr13	GH13I102844	102844531	102848468	2.28	[{'connected_gene': 'ERCC5', 'score': 572.91}, {'connected_gene': 'BIVM', 'score': 24.61}, {'connected_gene': 'TEX30', 'score': 11.39}, {'connected_gene': 'METTL21EP', 'score': 11.25}, {'connected_gene': 'TPP2', 'score': 10.79}, {'connected_gene': 'CCDC168', 'score': 10.68}, {'connected_gene': 'LINC00283', 'score': 10.66}, {'connected_gene': 'METTL21C', 'score': 9.91}, {'connected_gene': 'GC13P102835', 'score': 0.39}, {'connected_gene': 'GC13M102871', 'score': 0.31}, {'connected_gene': 'BIVM-ERCC5', 'score': 0.25}]
chr13	GH13I102869	102869867	102871487	0.59	[{'connected_gene': 'METTL21EP', 'score': 9.23}, {'connected_gene': 'BIVM', 'score': 5.06}, {'connected_gene': 'GC13M102871', 'score': 0.77}, {'connected_gene': 'ERCC5', 'score': 0.31}, {'connected_gene': 'BIVM-ERCC5', 'score': 0.19}]
chr13	GH13I102614	102614077	102614971	0.2	[{'connected_gene': 'LINC00283', 'score': 10.56}, {'connected_gene': 'BIVM', 'score': 9.65}, {'connected_gene': 'ERCC5', 'score': 9.63}, {'connected_gene': 'METTL21C', 'score': 7.89}, {'connected_gene': 'TPP2', 'score': 0.37}, {'connected_gene': 'GC13P102663', 'score': 0.25}]
chr13	GH13I102840	102840587	102841326	0.2	[{'connected_gene': 'GC13P102841', 'score': 550.77}, {'connected_gene': 'PIR34791', 'score': 550.77}, {'connected_gene': 'GC13P102840', 'score': 550.77}, {'connected_gene': 'ERCC5', 'score': 13.8}, {'connected_gene': 'TEX30', 'score': 11.4}, {'connected_gene': 'BIVM', 'score': 11.18}, {'connected_gene': 'CCDC168', 'score': 10.69}, {'connected_gene': 'LINC00283', 'score': 10.67}, {'connected_gene': 'METTL21C', 'score': 9.92}, {'connected_gene': 'METTL21EP', 'score': 8.88}, {'connected_gene': 'GC13P102835', 'score': 0.44}, {'connected_gene': 'BIVM-ERCC5', 'score': 0.26}]
chr13	GH13I103141	103141904	103142949	0.31	[{'connected_gene': 'GC13M103135', 'score': 550.77}, {'connected_gene': 'ERCC5', 'score': 4.79}, {'connected_gene': 'GC13M103204', 'score': 0.18}]
chr13	GH13I102899	102899589	102903785	0.76	[{'connected_gene': 'ENSG00000278445', 'score': 550.77}, {'connected_gene': 'METTL21EP', 'score': 6.99}, {'connected_gene': 'ERCC5', 'score': 6.93}, {'connected_gene': 'ENSG00000272542', 'score': 0.39}]
chr13	GH13I102591	102591491	102593925	1.6	[{'connected_gene': 'ENSG00000276957', 'score': 550.77}, {'connected_gene': 'LINC00283', 'score': 9.9}, {'connected_gene': 'CCDC168', 'score': 9.89}, {'connected_gene': 'TPP2', 'score': 3.02}, {'connected_gene': 'ERCC5', 'score': 1.95}, {'connected_gene': 'LINC00555', 'score': 0.77}]