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
ENST00000570029	[[89679715, 89679812], [89696712, 89696922], [89702315, 89702448], [89702671, 89702756]]	[[89696818, 89696922], [89702315, 89702448], [89702671, 89702756]]
ENST00000421184	[[89679715, 89679812], [89696712, 89696922], [89702315, 89702448], [89702671, 89702804], [89702940, 89703091], [89703273, 89703343], [89703611, 89703788], [89703875, 89703960], [89704039, 89704115], [89704243, 89704379], [89704459, 89704838]]	[[89696818, 89696922], [89702315, 89702448], [89702671, 89702804], [89702940, 89703091], [89703273, 89703343], [89703611, 89703788], [89703875, 89703960], [89704039, 89704115], [89704243, 89704379], [89704459, 89704630]]
ENST00000565249	[[89679956, 89680127], [89702315, 89702448], [89702671, 89702804], [89702940, 89703091], [89703273, 89703788], [89703875, 89703937]]	None
ENST00000564281	[[89680080, 89680127], [89696712, 89696922], [89702315, 89702448], [89702671, 89702804], [89702940, 89703091], [89703273, 89703343], [89703611, 89703788], [89703875, 89704379], [89704459, 89704806]]	None
ENST00000568281	[[89683280, 89683322], [89696712, 89696922], [89702315, 89702448], [89702671, 89702768]]	[[89696818, 89696922], [89702315, 89702448], [89702671, 89702768]]
ENST00000393092	[[89686999, 89687184], [89696712, 89696922], [89702315, 89702448], [89702671, 89702804], [89702940, 89703091], [89703273, 89703343], [89703611, 89703788], [89703875, 89703960], [89704039, 89704115], [89704243, 89704379], [89704459, 89704837]]	[[89696818, 89696922], [89702315, 89702448], [89702671, 89702804], [89702940, 89703091], [89703273, 89703343], [89703611, 89703788], [89703875, 89703960], [89704039, 89704115], [89704243, 89704379], [89704459, 89704630]]
ENST00000561484	[[89692865, 89692901], [89696712, 89696922], [89702315, 89702587]]	None
ENST00000261615	[[89696696, 89696922], [89702315, 89702448], [89702671, 89702804], [89702940, 89703091], [89703273, 89703343], [89703611, 89703788], [89703875, 89703960], [89704039, 89704115], [89704243, 89704379], [89704459, 89704839]]	[[89696818, 89696922], [89702315, 89702448], [89702671, 89702804], [89702940, 89703091], [89703273, 89703343], [89703611, 89703788], [89703875, 89703960], [89704039, 89704115], [89704243, 89704379], [89704459, 89704630]]
ENST00000564645	[[89703983, 89704115], [89704243, 89704379], [89704459, 89704703]]	None
NM_001128141	[[89679715, 89679812], [89696712, 89696922], [89702315, 89702448], [89702671, 89702804], [89702940, 89703091], [89703273, 89703343], [89703611, 89703788], [89703875, 89703960], [89704039, 89704115], [89704243, 89704379], [89704459, 89704839]]	[[89696818, 89696922], [89702315, 89702448], [89702671, 89702804], [89702940, 89703091], [89703273, 89703343], [89703611, 89703788], [89703875, 89703960], [89704039, 89704115], [89704243, 89704379], [89704459, 89704630]]
NM_004413	[[89686999, 89687184], [89696712, 89696922], [89702315, 89702448], [89702671, 89702804], [89702940, 89703091], [89703273, 89703343], [89703611, 89703788], [89703875, 89703960], [89704039, 89704115], [89704243, 89704379], [89704459, 89704839]]	[[89696818, 89696922], [89702315, 89702448], [89702671, 89702804], [89702940, 89703091], [89703273, 89703343], [89703611, 89703788], [89703875, 89703960], [89704039, 89704115], [89704243, 89704379], [89704459, 89704630]]

Promoter

Chrom	Start	End	Description
chr16	89680023	89680037	CAGE_peak_4_at_DPEP1_5end
chr16	89680039	89680109	CAGE_peak_2_at_DPEP1_5end
chr16	89686991	89687015	CAGE_peak_5_at_DPEP1_5end
chr16	89687026	89687041	CAGE_peak_7_at_DPEP1_5end
chr16	89687120	89687166	CAGE_peak_3_at_DPEP1_5end
chr16	89696671	89696688	CAGE_peak_1_at_DPEP1_5end
chr16	89696692	89696703	CAGE_peak_8_at_DPEP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I089639	89639921	89642296	1.13	[{'connected_gene': 'CDK10', 'score': 49.34}, {'connected_gene': 'SPIRE2', 'score': 13.58}, {'connected_gene': 'GAS8-AS1', 'score': 13.36}, {'connected_gene': 'CHMP1A', 'score': 12.2}, {'connected_gene': 'DPEP1', 'score': 10.1}, {'connected_gene': 'RPL13', 'score': 5.49}, {'connected_gene': 'PIR44959', 'score': 0.77}]
chr16	GH16I089624	89624870	89626035	0.62	[{'connected_gene': 'CDK10', 'score': 15.46}, {'connected_gene': 'SPG7', 'score': 5.81}, {'connected_gene': 'DPEP1', 'score': 0.39}, {'connected_gene': 'PIR44959', 'score': 0.37}]
chr16	GH16I089631	89630834	89633800	1.05	[{'connected_gene': 'CDK10', 'score': 32.84}, {'connected_gene': 'CHMP1A', 'score': 12.0}, {'connected_gene': 'TUBB3', 'score': 7.1}, {'connected_gene': 'RPL13', 'score': 5.42}, {'connected_gene': 'GALNS', 'score': 5.41}, {'connected_gene': 'PIR44959', 'score': 0.39}, {'connected_gene': 'DPEP1', 'score': 0.37}]
chr16	GH16I089585	89585887	89587123	0.67	[{'connected_gene': 'CDK10', 'score': 7.92}, {'connected_gene': 'DPEP1', 'score': 4.9}, {'connected_gene': 'SLC22A31', 'score': 4.65}, {'connected_gene': 'CPNE7', 'score': 0.39}, {'connected_gene': 'PIR32438', 'score': 0.31}]
chr16	GH16I089686	89686073	89688548	2.05	[{'connected_gene': 'CDK10', 'score': 582.94}, {'connected_gene': 'LINC02166', 'score': 560.69}, {'connected_gene': 'DPEP1', 'score': 11.61}, {'connected_gene': 'VPS9D1', 'score': 11.34}, {'connected_gene': 'ZNF276', 'score': 11.34}, {'connected_gene': 'FANCA', 'score': 5.65}, {'connected_gene': 'PIR59284', 'score': 0.39}]
chr16	GH16I089616	89616433	89617320	1.11	[{'connected_gene': 'DBNDD1', 'score': 14.68}, {'connected_gene': 'GAS8-AS1', 'score': 8.3}, {'connected_gene': 'RPL13', 'score': 7.36}, {'connected_gene': 'SPATA33', 'score': 6.98}, {'connected_gene': 'DPEP1', 'score': 5.3}, {'connected_gene': 'PIR44959', 'score': 0.31}]
chr16	GH16I089623	89623325	89624113	0.57	[{'connected_gene': 'DBNDD1', 'score': 13.89}, {'connected_gene': 'TUBB3', 'score': 8.41}, {'connected_gene': 'DPEP1', 'score': 0.39}, {'connected_gene': 'PIR44959', 'score': 0.34}]
chr16	GH16I089525	89525470	89526223	0.38	[{'connected_gene': 'SPG7', 'score': 19.84}, {'connected_gene': 'RPL13', 'score': 16.74}, {'connected_gene': 'DPEP1', 'score': 11.35}, {'connected_gene': 'ENSG00000274627', 'score': 0.44}, {'connected_gene': 'PIR57136', 'score': 0.37}]
chr16	GH16I089615	89615673	89615822	0.64	[{'connected_gene': 'CHMP1A', 'score': 14.26}, {'connected_gene': 'DBNDD1', 'score': 13.33}, {'connected_gene': 'CDK10', 'score': 12.06}, {'connected_gene': 'SPIRE2', 'score': 7.58}, {'connected_gene': 'DPEP1', 'score': 0.77}, {'connected_gene': 'PIR44959', 'score': 0.31}]
chr16	GH16I088661	88661800	88664411	2.05	[{'connected_gene': 'SNAI3-AS1', 'score': 566.25}, {'connected_gene': 'MVD', 'score': 555.42}, {'connected_gene': 'ZNF778', 'score': 26.15}, {'connected_gene': 'ZC3H18', 'score': 22.87}, {'connected_gene': 'ANKRD11', 'score': 12.99}, {'connected_gene': 'ENSG00000259877', 'score': 11.29}, {'connected_gene': 'CTU2', 'score': 10.97}, {'connected_gene': 'KLHDC4', 'score': 10.05}, {'connected_gene': 'BANP', 'score': 9.81}, {'connected_gene': 'LINC00304', 'score': 9.72}, {'connected_gene': 'DPEP1', 'score': 6.07}, {'connected_gene': 'CYBA', 'score': 0.39}]
chr16	GH16I088658	88658841	88659767	0.38	[{'connected_gene': 'SNAI3-AS1', 'score': 11.53}, {'connected_gene': 'DPEP1', 'score': 4.49}, {'connected_gene': 'MVD', 'score': 0.77}, {'connected_gene': 'CYBA', 'score': 0.44}]
chr16	GH16I089526	89525293	89525442	0.2	[{'connected_gene': 'DPEP1', 'score': 11.35}, {'connected_gene': 'ENSG00000274627', 'score': 0.44}, {'connected_gene': 'PIR57136', 'score': 0.37}, {'connected_gene': 'SPG7', 'score': 0.29}]
chr16	GH16I089620	89620494	89620553	0.73	[{'connected_gene': 'DPEP1', 'score': 550.44}, {'connected_gene': 'PIR44959', 'score': 0.34}]
chr16	GH16I089630	89630093	89630280	0.88	[{'connected_gene': 'DPEP1', 'score': 550.37}, {'connected_gene': 'PIR44959', 'score': 0.39}]
chr16	GH16I089853	89853455	89853548	0.59	[{'connected_gene': 'LOC105371419', 'score': 550.77}, {'connected_gene': 'GAS8-AS1', 'score': 7.14}, {'connected_gene': 'DBNDD1', 'score': 4.24}, {'connected_gene': 'PRDM7', 'score': 3.42}, {'connected_gene': 'DPEP1', 'score': 1.43}, {'connected_gene': 'SPIRE2', 'score': 0.28}]
chr16	GH16I089622	89622113	89622262	0.43	[{'connected_gene': 'TUBB3', 'score': 8.63}, {'connected_gene': 'DPEP1', 'score': 0.44}, {'connected_gene': 'PIR44959', 'score': 0.34}]
chr16	GH16I089612	89612437	89614540	0.54	[{'connected_gene': 'PIR32438', 'score': 550.77}, {'connected_gene': 'DPEP1', 'score': 550.77}, {'connected_gene': 'CHMP1A', 'score': 10.09}, {'connected_gene': 'CDK10', 'score': 7.83}, {'connected_gene': 'SPIRE2', 'score': 7.09}, {'connected_gene': 'GAS8-AS1', 'score': 7.04}, {'connected_gene': 'PIR44959', 'score': 0.29}]