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
ENST00000337537	[[63838074, 63842826], [63848773, 63848875], [63851161, 63851289], [63856329, 63856449], [63858534, 63858585], [63858689, 63858743], [63860537, 63860646], [63861943, 63862003], [63863303, 63863434], [63881857, 63881950], [63888710, 63888812], [63920406, 63920603], [64006246, 64006410], [64009496, 64010092]]	[[63842726, 63842826], [63848773, 63848875], [63851161, 63851289], [63856329, 63856449], [63858534, 63858585], [63858689, 63858743], [63860537, 63860646], [63861943, 63862003], [63863303, 63863434], [63881857, 63881950], [63888710, 63888812], [63920406, 63920603], [64006246, 64006403]]
ENST00000555899	[[63842478, 63842826], [63848788, 63848875], [63851161, 63851289], [63856329, 63856449], [63858534, 63858585], [63858689, 63858743], [63860537, 63860646], [63861943, 63862003], [63863303, 63863434], [63881857, 63881950], [63888710, 63888812], [63920406, 63920603], [64006246, 64006410], [64009496, 64010016]]	[[63842726, 63842826], [63848788, 63848875], [63851161, 63851289], [63856329, 63856449], [63858534, 63858585], [63858689, 63858743], [63860537, 63860646], [63861943, 63862003], [63863303, 63863434], [63881857, 63881950], [63888710, 63888812], [63920406, 63920603], [64006246, 64006403]]
ENST00000422769	[[63842570, 63842826], [63848773, 63848875], [63851161, 63851289], [63856329, 63856449], [63858534, 63858585], [63858689, 63858743], [63860537, 63860646], [63861943, 63862003], [63863303, 63863434], [63881857, 63881950], [63888710, 63888812], [63920406, 63920603], [63974887, 63974955]]	[[63842726, 63842826], [63848773, 63848875], [63851161, 63851289], [63856329, 63856449], [63858534, 63858585], [63858689, 63858743], [63860537, 63860646], [63861943, 63862003], [63863303, 63863434], [63881857, 63881950], [63888710, 63888812], [63920406, 63920532]]
ENST00000556484	[[63842622, 63842826], [63848773, 63848875], [63851161, 63851289], [63856329, 63856449], [63858534, 63858585], [63858689, 63858743], [63860537, 63860646], [63861943, 63862003], [63863303, 63863434], [63881857, 63881950], [63888710, 63888812], [63920406, 63920603], [63974842, 63974956]]	None
ENST00000553266	[[63848773, 63848875], [63851161, 63851289], [63856329, 63856449], [63858534, 63858585], [63858689, 63858743], [63860537, 63860646], [63861943, 63862003], [63863303, 63863434], [63881857, 63881950], [63888710, 63888812], [64006246, 64006410], [64009496, 64010072]]	None
ENST00000556878	[[63917991, 63920603], [64006246, 64006410], [64009496, 64010091]]	None
ENST00000556150	[[63851248, 63851289], [63856329, 63856449], [63860537, 63860646], [63861943, 63862003], [63863303, 63863434], [63881857, 63881950], [63888710, 63888812], [63920406, 63920494]]	None
NM_001282181	[[63840609, 63842826], [63848773, 63848875], [63851161, 63851289], [63856329, 63856449], [63858534, 63858585], [63858689, 63858743], [63860537, 63860646], [63861943, 63862003], [63863303, 63863434], [63881857, 63881950], [63888710, 63888812], [63920406, 63920603], [63974842, 63974956]]	[[63842726, 63842826], [63848773, 63848875], [63851161, 63851289], [63856329, 63856449], [63858534, 63858585], [63858689, 63858743], [63860537, 63860646], [63861943, 63862003], [63863303, 63863434], [63881857, 63881950], [63888710, 63888812], [63920406, 63920532]]
NM_001282182	[[63840609, 63842826], [63848773, 63848875], [63851161, 63851289], [63856329, 63856449], [63858534, 63858585], [63858689, 63858743], [63860537, 63860646], [63861943, 63862003], [63863303, 63863434], [63881857, 63881950], [63888710, 63888812], [63920406, 63920603], [63974887, 63974956]]	[[63842726, 63842826], [63848773, 63848875], [63851161, 63851289], [63856329, 63856449], [63858534, 63858585], [63858689, 63858743], [63860537, 63860646], [63861943, 63862003], [63863303, 63863434], [63881857, 63881950], [63888710, 63888812], [63920406, 63920532]]
NM_006246	[[63840609, 63842826], [63848773, 63848875], [63851161, 63851289], [63856329, 63856449], [63858534, 63858585], [63858689, 63858743], [63860537, 63860646], [63861943, 63862003], [63863303, 63863434], [63881857, 63881950], [63888710, 63888812], [63920406, 63920603], [64006246, 64006410], [64009496, 64010079]]	[[63842726, 63842826], [63848773, 63848875], [63851161, 63851289], [63856329, 63856449], [63858534, 63858585], [63858689, 63858743], [63860537, 63860646], [63861943, 63862003], [63863303, 63863434], [63881857, 63881950], [63888710, 63888812], [63920406, 63920603], [64006246, 64006403]]
NM_001282180	[[63840609, 63842826], [63848788, 63848875], [63851161, 63851289], [63856329, 63856449], [63858534, 63858585], [63858689, 63858743], [63860537, 63860646], [63861943, 63862003], [63863303, 63863434], [63881857, 63881950], [63888710, 63888812], [63920406, 63920603], [64006246, 64006410], [64009496, 64010079]]	[[63842726, 63842826], [63848788, 63848875], [63851161, 63851289], [63856329, 63856449], [63858534, 63858585], [63858689, 63858743], [63860537, 63860646], [63861943, 63862003], [63863303, 63863434], [63881857, 63881950], [63888710, 63888812], [63920406, 63920603], [64006246, 64006403]]
NR_104104	[[63840609, 63842826], [63848773, 63848875], [63851161, 63851289], [63856329, 63856449], [63858534, 63858585], [63858689, 63858743], [63860537, 63860646], [63861943, 63862003], [63863303, 63863434], [63881857, 63881950], [63888710, 63888812], [64006246, 64006410], [64009496, 64010079]]	None
NM_001282179	[[63840609, 63842826], [63848773, 63848875], [63851161, 63851289], [63856329, 63856449], [63858534, 63858585], [63858689, 63858743], [63860537, 63860646], [63861943, 63862003], [63863303, 63863434], [63881857, 63881950], [63888710, 63888812], [63920406, 63920603], [64006246, 64006407], [64009496, 64010079]]	[[63842726, 63842826], [63848773, 63848875], [63851161, 63851289], [63856329, 63856449], [63858534, 63858585], [63858689, 63858743], [63860537, 63860646], [63861943, 63862003], [63863303, 63863434], [63881857, 63881950], [63888710, 63888812], [63920406, 63920603], [64006246, 64006403]]

Promoter

Chrom	Start	End	Description
chr14	63974941	63974962	CAGE_peak_9_at_PPP2R5E_5end
chr14	64009527	64009578	CAGE_peak_5_at_PPP2R5E_5end
chr14	64009837	64009848	CAGE_peak_4_at_PPP2R5E_5end
chr14	64010006	64010023	CAGE_peak_2_at_PPP2R5E_5end
chr14	64010027	64010041	CAGE_peak_3_at_PPP2R5E_5end
chr14	64010046	64010107	CAGE_peak_1_at_PPP2R5E_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	GH14I063383	63383637	63384396	0.52	[{'connected_gene': 'PPP2R5E', 'score': 5.46}, {'connected_gene': 'GC14P063451', 'score': 0.2}, {'connected_gene': 'GPHB5', 'score': 0.2}]
chr14	GH14I063491	63491389	63493927	0.84	[{'connected_gene': 'PPP2R5E', 'score': 6.91}, {'connected_gene': 'ENSG00000252800', 'score': 0.39}, {'connected_gene': 'GC14P063451', 'score': 0.26}]
chr14	GH14I063508	63508227	63508286	0.89	[{'connected_gene': 'PPP2R5E', 'score': 550.28}, {'connected_gene': 'ENSG00000252800', 'score': 12.06}, {'connected_gene': 'GC14P063451', 'score': 0.22}]
chr14	GH14I063499	63499843	63499992	0.52	[{'connected_gene': 'PPP2R5E', 'score': 10.64}, {'connected_gene': 'ENSG00000252800', 'score': 0.34}, {'connected_gene': 'GC14P063451', 'score': 0.25}]
chr14	GH14I063523	63523962	63525702	0.64	[{'connected_gene': 'PPP2R5E', 'score': 0.37}, {'connected_gene': 'ENSG00000252800', 'score': 0.25}]
chr14	GH14I063362	63362291	63363307	0.66	[{'connected_gene': 'KCNH5', 'score': 5.42}, {'connected_gene': 'PPP2R5E', 'score': 4.78}, {'connected_gene': 'GPHB5', 'score': 2.03}, {'connected_gene': 'WDR89', 'score': 1.55}, {'connected_gene': 'GC14P063451', 'score': 0.17}]
chr14	GH14I063427	63427701	63427867	0.34	[{'connected_gene': 'KCNH5', 'score': 6.12}, {'connected_gene': 'GPHB5', 'score': 1.69}, {'connected_gene': 'PPP2R5E', 'score': 1.46}, {'connected_gene': 'GC14P063451', 'score': 0.34}]
chr14	GH14I063852	63852343	63858827	2.61	[{'connected_gene': 'SYNE2', 'score': 581.52}, {'connected_gene': 'ENSG00000258824', 'score': 11.28}, {'connected_gene': 'WDR89', 'score': 10.09}, {'connected_gene': 'ENSG00000214770', 'score': 9.75}, {'connected_gene': 'PPP2R5E', 'score': 1.94}, {'connected_gene': 'GC14P064073', 'score': 0.08}]
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	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	GH14I063480	63480401	63480800	0.46	[{'connected_gene': 'ENSG00000252800', 'score': 550.77}, {'connected_gene': 'GC14P063451', 'score': 0.31}, {'connected_gene': 'PPP2R5E', 'score': 0.21}]
chr14	GH14I063481	63481995	63483807	0.85	[{'connected_gene': 'ENSG00000252800', 'score': 0.77}, {'connected_gene': 'GC14P063451', 'score': 0.29}, {'connected_gene': 'PPP2R5E', 'score': 0.21}]
chr14	GH14I063468	63468383	63468532	0.77	[{'connected_gene': 'GC14P063463', 'score': 0.44}, {'connected_gene': 'ENSG00000252800', 'score': 0.39}, {'connected_gene': 'GC14P063451', 'score': 0.37}, {'connected_gene': 'PPP2R5E', 'score': 0.19}]
chr14	GH14I063510	63510141	63511763	0.9	[{'connected_gene': 'ENSG00000252800', 'score': 12.04}, {'connected_gene': 'PPP2R5E', 'score': 5.88}, {'connected_gene': 'GC14P063451', 'score': 0.22}]
chr14	GH14I063477	63477434	63479588	0.92	[{'connected_gene': 'ENSG00000252800', 'score': 550.77}, {'connected_gene': 'GC14P063463', 'score': 0.37}, {'connected_gene': 'GC14P063451', 'score': 0.31}, {'connected_gene': 'PPP2R5E', 'score': 0.21}]
chr14	GH14I063504	63504743	63504872	0.6	[{'connected_gene': 'ENSG00000252800', 'score': 12.06}, {'connected_gene': 'PPP2R5E', 'score': 0.28}, {'connected_gene': 'GC14P063451', 'score': 0.23}]
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}]