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

Promoter

Chrom	Start	End	Description
chr18	23670546	23670605	CAGE_peak_1_at_SS18_5end
chr18	23670610	23670626	CAGE_peak_2_at_SS18_5end
chr18	23671139	23671190	CAGE_peak_3_at_SS18_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr18	GH18I026088	26088132	26091942	2.08	[{'connected_gene': 'SS18', 'score': 573.23}, {'connected_gene': 'TAF4B', 'score': 6.97}, {'connected_gene': 'GC18M026383', 'score': 0.25}]
chr18	GH18I026214	26214375	26216200	1.1	[{'connected_gene': 'SS18', 'score': 10.2}, {'connected_gene': 'NPM1P2', 'score': 0.39}, {'connected_gene': 'GC18M026382', 'score': 0.39}]
chr18	GH18I025297	25297894	25300355	1.25	[{'connected_gene': 'SS18', 'score': 20.41}, {'connected_gene': 'ENSG00000264434', 'score': 0.77}, {'connected_gene': 'ZNF521', 'score': 0.23}, {'connected_gene': 'LOC105372031', 'score': 0.2}]
chr18	GH18I025796	25796740	25798916	0.2	[{'connected_gene': 'SS18', 'score': 4.38}, {'connected_gene': 'PIR55497', 'score': 0.39}, {'connected_gene': 'RN7SL97P', 'score': 0.34}]
chr18	GH18I026093	26092157	26092208	0.31	[{'connected_gene': 'SS18', 'score': 550.77}, {'connected_gene': 'RPS24P18', 'score': 0.44}]
chr18	GH18I026092	26092217	26092306	0.31	[{'connected_gene': 'SS18', 'score': 550.77}, {'connected_gene': 'RPS24P18', 'score': 0.44}]
chr18	GH18I026224	26224621	26228561	2.05	[{'connected_gene': 'TAF4B', 'score': 557.53}, {'connected_gene': 'GC18M026382', 'score': 550.77}, {'connected_gene': 'SS18', 'score': 11.17}, {'connected_gene': 'KCTD1', 'score': 4.82}, {'connected_gene': 'PIR33021', 'score': 0.44}]
chr18	GH18I026059	26059437	26059586	0.52	[{'connected_gene': 'TAF4B', 'score': 4.65}, {'connected_gene': 'GC18M026383', 'score': 0.37}, {'connected_gene': 'SS18', 'score': 0.29}]
chr18	GH18I026865	26865747	26865806	0.92	[{'connected_gene': 'AQP4', 'score': 550.77}, {'connected_gene': 'SS18', 'score': 9.86}, {'connected_gene': 'LOC440489', 'score': 0.29}, {'connected_gene': 'AQP4-AS1', 'score': 0.08}]
chr18	GH18I026862	26862985	26865723	0.99	[{'connected_gene': 'AQP4', 'score': 556.45}, {'connected_gene': 'SS18', 'score': 9.86}, {'connected_gene': 'LOC440489', 'score': 0.29}, {'connected_gene': 'AQP4-AS1', 'score': 0.08}]
chr18	GH18I026190	26190354	26192056	0.87	[{'connected_gene': 'GC18M026312', 'score': 550.77}, {'connected_gene': 'SS18', 'score': 5.34}, {'connected_gene': 'NPM1P2', 'score': 0.39}, {'connected_gene': 'PSMA8', 'score': 0.22}]
chr18	GH18I025953	25953601	25953800	0.31	[{'connected_gene': 'ENSG00000264193', 'score': 550.77}, {'connected_gene': 'SS18', 'score': 5.52}, {'connected_gene': 'GC18M026383', 'score': 0.17}]
chr18	GH18I026057	26057308	26057587	0.66	[{'connected_gene': 'GC18M026383', 'score': 0.37}, {'connected_gene': 'SS18', 'score': 0.29}]
chr18	GH18I026035	26035256	26035502	0.58	[{'connected_gene': 'GC18M026383', 'score': 0.44}, {'connected_gene': 'SS18', 'score': 0.22}, {'connected_gene': 'ENSG00000264193', 'score': 0.18}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000415083	[[23596577, 23598344], [23612362, 23612496], [23614968, 23615091], [23615794, 23615887], [23618518, 23618623], [23619252, 23619420], [23632587, 23632809], [23637552, 23637706], [23658039, 23658124], [23667464, 23667541], [23670464, 23670589]]	[[23598317, 23598344], [23612362, 23612496], [23614968, 23615091], [23615794, 23615887], [23618518, 23618623], [23619252, 23619420], [23632587, 23632809], [23637552, 23637706], [23658039, 23658124], [23667464, 23667541], [23670464, 23670533]]
ENST00000542420	[[23597306, 23598344], [23612362, 23612496], [23614968, 23615091], [23615794, 23615887], [23618518, 23618623], [23619252, 23619420], [23632587, 23632809], [23637552, 23637706], [23658039, 23658124], [23667464, 23667541], [23671059, 23671181]]	[[23598317, 23598344], [23612362, 23612496], [23614968, 23615091], [23615794, 23615887], [23618518, 23618623], [23619252, 23619420], [23632587, 23632809], [23637552, 23637706], [23658039, 23658124], [23667464, 23667541]]
ENST00000542743	[[23597848, 23598344], [23612362, 23612496], [23614968, 23615091], [23618518, 23618623], [23619252, 23619420], [23632587, 23632809], [23637552, 23637706], [23658039, 23658124], [23662326, 23662492], [23667464, 23667541], [23670464, 23670561]]	[[23598317, 23598344], [23612362, 23612496], [23614968, 23615091], [23618518, 23618623], [23619252, 23619420], [23632587, 23632809], [23637552, 23637706], [23658039, 23658114]]
ENST00000579640	[[23597848, 23598344], [23612362, 23612496], [23614968, 23615091], [23618518, 23618623], [23619252, 23619420], [23632587, 23632809], [23637552, 23637706], [23658039, 23658124], [23662326, 23662492], [23667464, 23667541], [23670464, 23670574]]	[[23662461, 23662492], [23667464, 23667541], [23670464, 23670533]]
ENST00000269138	[[23597970, 23598344], [23612362, 23612496], [23614968, 23615091], [23615794, 23615887], [23618518, 23618623], [23619252, 23619420], [23632587, 23632809], [23637552, 23637706], [23667464, 23667541], [23670464, 23670562]]	[[23637666, 23637706], [23667464, 23667541], [23670464, 23670533]]
ENST00000539849	[[23597970, 23598344], [23612362, 23612496], [23614968, 23615091], [23615794, 23615887], [23618518, 23618623], [23619252, 23619420], [23632587, 23632809], [23637552, 23637706], [23667464, 23667541], [23670464, 23670562]]	[[23598317, 23598344], [23612362, 23612496], [23614968, 23615091], [23615794, 23615887], [23618518, 23618623], [23619252, 23619420], [23632587, 23632809], [23637552, 23637691]]
ENST00000269137	[[23597977, 23598344], [23612362, 23612496], [23614968, 23615091], [23618518, 23618623], [23619252, 23619420], [23632587, 23632809], [23637552, 23637706], [23658039, 23658124], [23667464, 23667541], [23670464, 23670865]]	[[23598317, 23598344], [23612362, 23612496], [23614968, 23615091], [23618518, 23618623], [23619252, 23619420], [23632587, 23632809], [23637552, 23637706], [23658039, 23658124], [23667464, 23667541], [23670464, 23670533]]
ENST00000545952	[[23598083, 23598344], [23612362, 23612496], [23614968, 23615091], [23618518, 23618623], [23619252, 23619420], [23632587, 23632809], [23637552, 23637706], [23658039, 23658124], [23660268, 23660387], [23667464, 23667541], [23670464, 23670561]]	[[23598317, 23598344], [23612362, 23612496], [23614968, 23615091], [23618518, 23618623], [23619252, 23619420], [23632587, 23632809], [23637552, 23637706], [23658039, 23658114]]
ENST00000585121	[[23598083, 23598344], [23612362, 23612496], [23614968, 23615091], [23618518, 23618623], [23619252, 23619420], [23632587, 23632809], [23637552, 23637706], [23658039, 23658124], [23660268, 23660387], [23667464, 23667541], [23670464, 23670561]]	[[23660278, 23660387], [23667464, 23667541], [23670464, 23670533]]
ENST00000580958	[[23598313, 23598344], [23612362, 23612496], [23614968, 23615578]]	None
ENST00000582092	[[23603576, 23603596], [23612362, 23612496], [23614968, 23615029]]	None
ENST00000539244	[[23615054, 23615091], [23615794, 23615887], [23618518, 23618623], [23619252, 23619420], [23632587, 23632809], [23637552, 23637706], [23658039, 23658124], [23670464, 23670577]]	[[23658067, 23658124], [23670464, 23670533]]
ENST00000585241	[[23619373, 23619420], [23632587, 23632809], [23637552, 23637706], [23648457, 23648521], [23658039, 23658124], [23667464, 23667541], [23670464, 23670589]]	None
ENST00000578954	[[23632645, 23632809], [23637552, 23637706], [23658039, 23658124], [23664015, 23664139], [23667464, 23667541], [23670464, 23670616]]	[[23664102, 23664139], [23667464, 23667541], [23670464, 23670533]]
ENST00000579061	[[23632668, 23632809], [23637552, 23637706], [23658039, 23658124], [23667464, 23667541], [23670967, 23671156]]	[[23632668, 23632809], [23637552, 23637706], [23658039, 23658124], [23667464, 23667541]]
ENST00000577636	[[23632706, 23632809], [23637552, 23637706], [23648457, 23648521], [23658039, 23658124], [23667464, 23667541], [23671059, 23671156]]	[[23648515, 23648521], [23658039, 23658124], [23667464, 23667541]]
ENST00000584083	[[23632734, 23632809], [23637552, 23637706], [23658039, 23658124], [23667464, 23667541], [23669788, 23670060]]	[[23632734, 23632809], [23637552, 23637706], [23658039, 23658124], [23667464, 23667541]]
ENST00000578700	[[23632786, 23632809], [23637552, 23637706], [23658039, 23658124], [23658974, 23659089], [23667464, 23667541], [23671059, 23671180]]	[[23659028, 23659089], [23667464, 23667541]]
ENST00000582792	[[23637575, 23637706], [23658039, 23658124], [23661188, 23661329], [23667464, 23667541], [23670464, 23670561]]	[[23661190, 23661329], [23667464, 23667541], [23670464, 23670533]]
ENST00000581021	[[23637658, 23637706], [23658039, 23658124], [23667464, 23667541], [23669721, 23670099]]	[[23637658, 23637706], [23658039, 23658124], [23667464, 23667541]]
ENST00000577572	[[23637662, 23637706], [23648457, 23648521], [23658039, 23658124], [23658974, 23659089], [23667464, 23667541], [23670464, 23670589]]	[[23659028, 23659089], [23667464, 23667541], [23670464, 23670533]]
ENST00000582448	[[23637682, 23637706], [23658039, 23658124], [23658974, 23659110], [23662326, 23662492], [23667464, 23667541], [23671059, 23671156]]	[[23662461, 23662492], [23667464, 23667541]]
ENST00000581570	[[23637695, 23637706], [23658039, 23658124], [23662326, 23662492], [23664015, 23664139], [23667464, 23667541], [23670464, 23670572]]	[[23664102, 23664139], [23667464, 23667541], [23670464, 23670533]]
ENST00000577751	[[23644795, 23644835], [23658039, 23658124], [23667464, 23667541], [23669721, 23670099]]	None
ENST00000580003	[[23648223, 23648521], [23658039, 23658350]]	None
ENST00000580751	[[23658039, 23658124], [23658974, 23659110], [23664015, 23664139], [23667464, 23667541], [23670464, 23670589]]	[[23664102, 23664139], [23667464, 23667541], [23670464, 23670533]]
ENST00000580642	[[23658066, 23658124], [23660268, 23660387], [23662326, 23662492], [23667464, 23667541], [23670464, 23670589]]	[[23662461, 23662492], [23667464, 23667541], [23670464, 23670533]]
ENST00000578595	[[23660334, 23660387], [23667464, 23667541], [23669788, 23670064]]	None
ENST00000583595	[[23662346, 23662492], [23664015, 23664139], [23665886, 23665991]]	None
NM_001007559	[[23596216, 23598344], [23612362, 23612496], [23614968, 23615091], [23615794, 23615887], [23618518, 23618623], [23619252, 23619420], [23632587, 23632809], [23637552, 23637706], [23658039, 23658124], [23667464, 23667541], [23670464, 23670611]]	[[23598317, 23598344], [23612362, 23612496], [23614968, 23615091], [23615794, 23615887], [23618518, 23618623], [23619252, 23619420], [23632587, 23632809], [23637552, 23637706], [23658039, 23658124], [23667464, 23667541], [23670464, 23670533]]
NM_005637	[[23596216, 23598344], [23612362, 23612496], [23614968, 23615091], [23618518, 23618623], [23619252, 23619420], [23632587, 23632809], [23637552, 23637706], [23658039, 23658124], [23667464, 23667541], [23670464, 23670611]]	[[23598317, 23598344], [23612362, 23612496], [23614968, 23615091], [23618518, 23618623], [23619252, 23619420], [23632587, 23632809], [23637552, 23637706], [23658039, 23658124], [23667464, 23667541], [23670464, 23670533]]
NM_001308201	[[23596216, 23598344], [23612362, 23612496], [23614968, 23615091], [23615794, 23615887], [23618518, 23618623], [23619252, 23619420], [23632587, 23632809], [23637552, 23637706], [23658039, 23658124], [23667464, 23667541], [23671059, 23671181]]	[[23598317, 23598344], [23612362, 23612496], [23614968, 23615091], [23615794, 23615887], [23618518, 23618623], [23619252, 23619420], [23632587, 23632809], [23637552, 23637706], [23658039, 23658124], [23667464, 23667541]]