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
ENST00000308249	[[56833229, 56833822], [57033009, 57033128], [57043054, 57043254], [57046899, 57047088], [57049492, 57049636], [57050192, 57050286], [57057334, 57058983]]	[[56833358, 56833822], [57033009, 57033128], [57043054, 57043254], [57046899, 57047088], [57049492, 57049636], [57050192, 57050286], [57057334, 57058392]]
NR_048561	[[56833229, 56833822], [57033009, 57033128], [57046899, 57047088], [57049492, 57049636], [57050192, 57050286], [57057334, 57062540]]	None
NM_014906	[[56833229, 56833822], [57033009, 57033128], [57043054, 57043254], [57046899, 57047088], [57049492, 57049636], [57050192, 57050286], [57057334, 57062540]]	[[56833358, 56833822], [57033009, 57033128], [57043054, 57043254], [57046899, 57047088], [57049492, 57049636], [57050192, 57050286], [57057334, 57058392]]

Promoter

Chrom	Start	End	Description
chr17	56833107	56833115	CAGE_peak_7_at_PPM1E_5end
chr17	56833184	56833249	CAGE_peak_1_at_PPM1E_5end
chr17	56833261	56833268	CAGE_peak_4_at_PPM1E_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I058387	58387440	58388989	1.22	[{'connected_gene': 'MKS1', 'score': 25.07}, {'connected_gene': 'SRSF1', 'score': 16.03}, {'connected_gene': 'RNF43', 'score': 11.85}, {'connected_gene': 'SUPT4H1', 'score': 11.19}, {'connected_gene': 'SKA2', 'score': 11.11}, {'connected_gene': 'HSF5', 'score': 10.99}, {'connected_gene': 'PPM1E', 'score': 10.76}, {'connected_gene': 'LPO', 'score': 10.4}, {'connected_gene': 'DYNLL2', 'score': 9.83}, {'connected_gene': 'TRIM37', 'score': 9.41}, {'connected_gene': 'TSPOAP1-AS1', 'score': 0.21}]
chr17	GH17I058968	58968694	58968997	0.42	[{'connected_gene': 'SEPT4', 'score': 12.23}, {'connected_gene': 'C17orf47', 'score': 10.7}, {'connected_gene': 'ENSG00000263938', 'score': 0.77}, {'connected_gene': 'GC17M058973', 'score': 0.44}, {'connected_gene': 'PPM1E', 'score': 0.08}]
chr17	GH17I058510	58510279	58510383	0.62	[{'connected_gene': 'SEPT4', 'score': 11.71}, {'connected_gene': 'HSF5', 'score': 11.68}, {'connected_gene': 'C17orf47', 'score': 10.5}, {'connected_gene': 'SUPT4H1', 'score': 9.73}, {'connected_gene': 'MTMR4', 'score': 4.62}, {'connected_gene': 'DYNLL2', 'score': 2.23}, {'connected_gene': 'PPM1E', 'score': 2.02}, {'connected_gene': 'MKS1', 'score': 1.14}, {'connected_gene': 'PIR59993', 'score': 0.37}]
chr17	GH17I058935	58935350	58935742	0.44	[{'connected_gene': 'SEPT4', 'score': 1.74}, {'connected_gene': 'ENSG00000275680', 'score': 0.37}, {'connected_gene': 'RPS12P30', 'score': 0.28}, {'connected_gene': 'PPM1E', 'score': 0.1}]
chr17	GH17I058971	58971113	58971486	0.35	[{'connected_gene': 'TRIM37', 'score': 38.42}, {'connected_gene': 'SEPT4', 'score': 10.31}, {'connected_gene': 'C17orf47', 'score': 10.31}, {'connected_gene': 'YPEL2', 'score': 1.27}, {'connected_gene': 'ENSG00000263938', 'score': 0.44}, {'connected_gene': 'GC17M058973', 'score': 0.44}, {'connected_gene': 'PPM1E', 'score': 0.08}]
chr17	GH17I058991	58991159	58994213	0.98	[{'connected_gene': 'PPM1E', 'score': 10.78}, {'connected_gene': 'MTMR4', 'score': 10.42}, {'connected_gene': 'ENSG00000212195', 'score': 10.24}, {'connected_gene': 'GC17P058985', 'score': 0.44}, {'connected_gene': 'GC17M059024', 'score': 0.29}, {'connected_gene': 'TRIM37', 'score': 0.14}]
chr17	GH17I058924	58924322	58924554	0.34	[{'connected_gene': 'PPM1E', 'score': 2.84}, {'connected_gene': 'SEPT4', 'score': 1.73}, {'connected_gene': 'GDPD1', 'score': 1.57}, {'connected_gene': 'ENSG00000275680', 'score': 0.31}, {'connected_gene': 'RPS12P30', 'score': 0.31}]
chr17	GH17I059616	59616279	59623070	2.6	[{'connected_gene': 'CLTC', 'score': 550.77}, {'connected_gene': 'ENSG00000273702', 'score': 550.77}, {'connected_gene': 'TUBD1', 'score': 34.91}, {'connected_gene': 'RPS6KB1', 'score': 34.16}, {'connected_gene': 'HEATR6', 'score': 31.72}, {'connected_gene': 'SKA2', 'score': 27.31}, {'connected_gene': 'PPM1D', 'score': 24.62}, {'connected_gene': 'DHX40', 'score': 19.61}, {'connected_gene': 'RNFT1', 'score': 16.77}, {'connected_gene': 'NDUFB8P2', 'score': 14.13}, {'connected_gene': 'LOC100996660', 'score': 12.9}, {'connected_gene': 'APPBP2', 'score': 11.42}, {'connected_gene': 'PPM1E', 'score': 10.74}, {'connected_gene': 'TRIM37', 'score': 10.4}, {'connected_gene': 'SMG8', 'score': 10.18}, {'connected_gene': 'PRR11', 'score': 4.81}, {'connected_gene': 'YPEL2', 'score': 1.72}, {'connected_gene': 'VMP1', 'score': 1.7}, {'connected_gene': 'GC17P059616', 'score': 0.77}]
chr17	GH17I058755	58755400	58756837	1.95	[{'connected_gene': 'LOC105371843', 'score': 550.77}, {'connected_gene': 'PPM1E', 'score': 550.77}, {'connected_gene': 'TRIM37', 'score': 33.66}, {'connected_gene': 'ENSG00000264112', 'score': 14.29}, {'connected_gene': 'DHX40', 'score': 10.82}, {'connected_gene': 'RAD51C', 'score': 5.12}, {'connected_gene': 'GC17M058757', 'score': 0.31}]
chr17	GH17I058756	58756840	58756989	0.77	[{'connected_gene': 'LOC105371843', 'score': 550.77}, {'connected_gene': 'PPM1E', 'score': 550.77}, {'connected_gene': 'TRIM37', 'score': 37.43}, {'connected_gene': 'GC17M058757', 'score': 0.31}]
chr17	GH17I058702	58702325	58704094	0.69	[{'connected_gene': 'GC17M058695', 'score': 550.77}, {'connected_gene': 'RAD51C', 'score': 31.31}, {'connected_gene': 'PPM1E', 'score': 11.27}, {'connected_gene': 'TEX14', 'score': 4.51}, {'connected_gene': 'ENSG00000274198', 'score': 0.26}]
chr17	GH17I058658	58658002	58660018	2.4	[{'connected_gene': 'GC17M058661', 'score': 550.77}, {'connected_gene': 'TEX14', 'score': 550.29}, {'connected_gene': 'SRSF1', 'score': 97.53}, {'connected_gene': 'MKS1', 'score': 68.69}, {'connected_gene': 'TRIM37', 'score': 37.42}, {'connected_gene': 'RAD51C', 'score': 30.65}, {'connected_gene': 'DHX40', 'score': 27.37}, {'connected_gene': 'SMG8', 'score': 22.86}, {'connected_gene': 'VEZF1', 'score': 21.11}, {'connected_gene': 'MTMR4', 'score': 1.89}, {'connected_gene': 'PPM1E', 'score': 1.47}, {'connected_gene': 'SEPT4', 'score': 1.2}, {'connected_gene': 'IGBP1P2', 'score': 0.77}, {'connected_gene': 'LOC105371842', 'score': 0.31}]
chr17	GH17I058785	58785960	58787497	1.2	[{'connected_gene': 'ENSG00000276601', 'score': 550.77}, {'connected_gene': 'TRIM37', 'score': 37.43}, {'connected_gene': 'TEX14', 'score': 11.99}, {'connected_gene': 'PPM1E', 'score': 11.85}, {'connected_gene': 'GC17P058810', 'score': 0.34}]
chr17	GH17I058957	58957560	58957709	0.43	[{'connected_gene': 'ENSG00000275680', 'score': 0.44}, {'connected_gene': 'ENSG00000263938', 'score': 0.44}, {'connected_gene': 'PPM1E', 'score': 0.08}]
chr17	GH17I058806	58806009	58806456	0.52	[{'connected_gene': 'GC17P058810', 'score': 0.77}, {'connected_gene': 'ENSG00000276601', 'score': 0.34}, {'connected_gene': 'PPM1E', 'score': 0.23}]
chr17	GH17I058960	58960001	58960600	0.82	[{'connected_gene': 'ENSG00000275680', 'score': 0.44}, {'connected_gene': 'ENSG00000263938', 'score': 0.44}, {'connected_gene': 'PPM1E', 'score': 0.08}]
chr17	GH17I058958	58957000	58957401	0.57	[{'connected_gene': 'ENSG00000275680', 'score': 0.44}, {'connected_gene': 'ENSG00000263938', 'score': 0.44}, {'connected_gene': 'PPM1E', 'score': 0.08}]
chr17	GH17I058945	58945040	58945189	0.31	[{'connected_gene': 'ENSG00000275680', 'score': 0.44}, {'connected_gene': 'RPS12P30', 'score': 0.25}, {'connected_gene': 'PPM1E', 'score': 0.09}]