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
ENST00000247225	[[64150931, 64153374], [64165286, 64165376], [64193978, 64194757]]	[[64152822, 64153374], [64165286, 64165376], [64193978, 64194662]]
NM_030791	[[64150933, 64153374], [64165286, 64165376], [64193978, 64194813]]	[[64152822, 64153374], [64165286, 64165376], [64193978, 64194662]]

Promoter

Chrom	Start	End	Description
chr14	64194745	64194799	CAGE_peak_1_at_SGPP1_5end
chr14	64194979	64194990	CAGE_peak_5_at_SGPP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I063469	63469734	63473799	1.13	[{'connected_gene': 'SGPP1', 'score': 9.88}, {'connected_gene': 'RNU7-116P', 'score': 9.88}, {'connected_gene': 'GC14P063463', 'score': 0.44}, {'connected_gene': 'ENSG00000252800', 'score': 0.44}, {'connected_gene': 'GC14P063451', 'score': 0.34}, {'connected_gene': 'PPP2R5E', 'score': 0.19}]
chr14	GH14I063473	63473946	63474669	0.49	[{'connected_gene': 'SGPP1', 'score': 9.88}, {'connected_gene': 'RNU7-116P', 'score': 9.88}, {'connected_gene': 'ENSG00000252800', 'score': 0.77}, {'connected_gene': 'GC14P063463', 'score': 0.39}, {'connected_gene': 'GC14P063451', 'score': 0.34}, {'connected_gene': 'PPP2R5E', 'score': 0.2}]
chr14	GH14I063704	63704782	63706368	0.74	[{'connected_gene': 'SGPP1', 'score': 12.43}, {'connected_gene': 'RNU7-116P', 'score': 12.38}, {'connected_gene': 'WDR89', 'score': 5.54}, {'connected_gene': 'GC14P063658', 'score': 0.25}]
chr14	GH14I063664	63664183	63664332	0.62	[{'connected_gene': 'SGPP1', 'score': 11.33}, {'connected_gene': 'RNU7-116P', 'score': 11.31}, {'connected_gene': 'GC14P063658', 'score': 0.44}]
chr14	GH14I063701	63701723	63701872	0.63	[{'connected_gene': 'SGPP1', 'score': 12.4}, {'connected_gene': 'RNU7-116P', 'score': 12.38}, {'connected_gene': 'GC14P063658', 'score': 0.26}]
chr14	GH14I063663	63663543	63663692	0.43	[{'connected_gene': 'SGPP1', 'score': 11.33}, {'connected_gene': 'RNU7-116P', 'score': 11.31}, {'connected_gene': 'GC14P063658', 'score': 0.77}]
chr14	GH14I063725	63725034	63728972	1.97	[{'connected_gene': 'SGPP1', 'score': 550.77}, {'connected_gene': 'ENSG00000200693', 'score': 11.74}, {'connected_gene': 'GC14P063658', 'score': 0.2}]
chr14	GH14I063714	63713823	63713972	0.76	[{'connected_gene': 'SGPP1', 'score': 0.39}, {'connected_gene': 'GC14P063658', 'score': 0.22}]
chr14	GH14I063908	63908601	63909200	0.2	[{'connected_gene': 'SYNE2', 'score': 11.36}, {'connected_gene': 'ENSG00000202182', 'score': 11.34}, {'connected_gene': 'RNU7-116P', 'score': 9.77}, {'connected_gene': 'SGPP1', 'score': 9.77}, {'connected_gene': 'GC14P064073', 'score': 0.1}]
chr14	GH14I063745	63745648	63749706	1.29	[{'connected_gene': 'WDR89', 'score': 4.67}, {'connected_gene': 'SGPP1', 'score': 2.01}, {'connected_gene': 'ENSG00000258411', 'score': 0.39}, {'connected_gene': 'RNU7-116P', 'score': 0.39}]
chr14	GH14I063764	63764243	63764392	0.77	[{'connected_gene': 'RNU7-116P', 'score': 12.61}, {'connected_gene': 'SGPP1', 'score': 12.58}, {'connected_gene': 'ENSG00000202182', 'score': 10.37}, {'connected_gene': 'SYNE2', 'score': 10.36}, {'connected_gene': 'ENSG00000258411', 'score': 0.77}, {'connected_gene': 'HMGN2P14', 'score': 0.31}]
chr14	GH14I063770	63770323	63770472	0.54	[{'connected_gene': 'RNU7-116P', 'score': 12.43}, {'connected_gene': 'SGPP1', 'score': 12.4}, {'connected_gene': 'ENSG00000200693', 'score': 11.37}, {'connected_gene': 'RNU6-1162P', 'score': 11.25}, {'connected_gene': 'ENSG00000252800', 'score': 10.15}, {'connected_gene': 'ENSG00000258411', 'score': 0.44}, {'connected_gene': 'HMGN2P14', 'score': 0.34}]
chr14	GH14I063713	63713083	63713232	0.31	[{'connected_gene': 'RNU7-116P', 'score': 12.85}, {'connected_gene': 'SGPP1', 'score': 0.39}, {'connected_gene': 'GC14P063658', 'score': 0.23}]
chr14	GH14I063675	63675735	63679245	1.15	[{'connected_gene': 'ENSG00000200693', 'score': 12.73}, {'connected_gene': 'ENSG00000214770', 'score': 11.55}, {'connected_gene': 'SGPP1', 'score': 11.45}, {'connected_gene': 'TEX21P', 'score': 11.44}, {'connected_gene': 'RNU7-116P', 'score': 11.44}, {'connected_gene': 'ZBTB25', 'score': 10.24}, {'connected_gene': 'SYNE2', 'score': 9.88}, {'connected_gene': 'ENSG00000202182', 'score': 9.88}, {'connected_gene': 'WDR89', 'score': 5.7}, {'connected_gene': 'GC14P063658', 'score': 0.37}]
chr14	GH14I063718	63718737	63719046	0.28	[{'connected_gene': 'ENSG00000200693', 'score': 11.77}, {'connected_gene': 'SGPP1', 'score': 3.5}, {'connected_gene': 'SYNE2', 'score': 1.56}, {'connected_gene': 'PPP2R5E', 'score': 1.55}, {'connected_gene': 'WDR89', 'score': 1.38}, {'connected_gene': 'GC14P063658', 'score': 0.21}]
chr14	GH14I063621	63621696	63622608	0.31	[{'connected_gene': 'GC14P063622', 'score': 550.77}, {'connected_gene': 'ENSG00000206822', 'score': 550.77}, {'connected_gene': 'SGPP1', 'score': 11.25}, {'connected_gene': 'RNU7-116P', 'score': 11.24}, {'connected_gene': 'GC14P063631', 'score': 0.44}, {'connected_gene': 'WDR89', 'score': 0.37}]
chr14	GH14I063655	63655432	63657376	0.46	[{'connected_gene': 'GC14M063656', 'score': 550.77}, {'connected_gene': 'SGPP1', 'score': 10.83}, {'connected_gene': 'RNU7-116P', 'score': 10.81}, {'connected_gene': 'ENSG00000200693', 'score': 0.77}, {'connected_gene': 'GC14M063652', 'score': 0.77}]
chr14	GH14I063673	63672803	63673311	0.64	[{'connected_gene': 'ENSG00000200693', 'score': 12.75}, {'connected_gene': 'GC14P063658', 'score': 0.39}, {'connected_gene': 'SGPP1', 'score': 0.22}]
chr14	GH14I063666	63666483	63666632	0.46	[{'connected_gene': 'GC14P063658', 'score': 0.44}, {'connected_gene': 'SGPP1', 'score': 0.21}]
chr14	GH14I063672	63672576	63672612	0.43	[{'connected_gene': 'ENSG00000200693', 'score': 12.75}, {'connected_gene': 'GC14P063658', 'score': 0.39}, {'connected_gene': 'SGPP1', 'score': 0.22}]
chr14	GH14I063541	63541800	63544801	2.03	[{'connected_gene': 'ENSG00000261242', 'score': 550.77}, {'connected_gene': 'PPP2R5E', 'score': 550.77}, {'connected_gene': 'LOC102723809', 'score': 23.02}, {'connected_gene': 'ENSG00000252800', 'score': 10.87}, {'connected_gene': 'SGPP1', 'score': 10.27}, {'connected_gene': 'RNU7-116P', 'score': 10.26}, {'connected_gene': 'ZBTB1', 'score': 9.65}]
chr14	GH14I063435	63435321	63438947	1.01	[{'connected_gene': 'ENSG00000252800', 'score': 11.69}, {'connected_gene': 'RNU7-116P', 'score': 10.08}, {'connected_gene': 'SGPP1', 'score': 10.08}, {'connected_gene': 'PPP2R5E', 'score': 5.11}, {'connected_gene': 'GC14P063451', 'score': 0.39}, {'connected_gene': 'GPHB5', 'score': 0.13}]