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
ENST00000555720	[[51098775, 51100892], [51101931, 51102102], [51107467, 51107611], [51111461, 51111732], [51131896, 51132227]]	[[51100870, 51100892], [51101931, 51102102], [51107467, 51107611], [51111461, 51111732], [51131896, 51132227]]
ENST00000324679	[[51100353, 51102102], [51107467, 51107611], [51111461, 51111732], [51131896, 51132337], [51134591, 51135049]]	[[51101900, 51102102], [51107467, 51107611], [51111461, 51111732], [51131896, 51132337], [51134591, 51134685]]
ENST00000553731	[[51101545, 51102102], [51131896, 51132083]]	[[51102085, 51102102], [51131896, 51132083]]
ENST00000557458	[[51101830, 51102102], [51111461, 51111527]]	[[51101900, 51102102], [51111461, 51111527]]
ENST00000602664	[[51130973, 51131843]]	None
ENST00000556735	[[51132318, 51132337], [51134099, 51134218], [51134591, 51135015]]	[[51132318, 51132337], [51134099, 51134218], [51134591, 51134685]]
NM_021818	[[51100297, 51102102], [51107467, 51107611], [51111461, 51111732], [51131896, 51132337], [51134591, 51135071]]	[[51101900, 51102102], [51107467, 51107611], [51111461, 51111732], [51131896, 51132337], [51134591, 51134685]]

Promoter

Chrom	Start	End	Description
chr14	51135005	51135032	CAGE_peak_1_at_SAV1_5end
chr14	51135036	51135063	CAGE_peak_2_at_SAV1_5end
chr14	51135073	51135082	CAGE_peak_4_at_SAV1_5end
chr14	51135220	51135270	CAGE_peak_3_at_SAV1_5end
chr14	51135533	51135544	CAGE_peak_10_at_SAV1_5end
chr14	51135553	51135570	CAGE_peak_5_at_SAV1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I050725	50725839	50727492	0.46	[{'connected_gene': 'CDKL1', 'score': 10.25}, {'connected_gene': 'NIN', 'score': 9.48}, {'connected_gene': 'SAV1', 'score': 4.54}, {'connected_gene': 'ENSG00000270062', 'score': 0.77}, {'connected_gene': 'GC14M050675', 'score': 0.77}]
chr14	GH14I050737	50737078	50737194	0.98	[{'connected_gene': 'ATL1', 'score': 11.76}, {'connected_gene': 'SAV1', 'score': 11.45}, {'connected_gene': 'CDKL1', 'score': 10.44}, {'connected_gene': 'MAP4K5', 'score': 10.31}, {'connected_gene': 'NIN', 'score': 9.81}, {'connected_gene': 'GC14M050675', 'score': 0.44}, {'connected_gene': 'LOC105370489', 'score': 0.18}]
chr14	GH14I050734	50734993	50735982	0.52	[{'connected_gene': 'SAV1', 'score': 11.45}, {'connected_gene': 'CDKL1', 'score': 10.45}, {'connected_gene': 'MAP4K5', 'score': 10.31}, {'connected_gene': 'ATL1', 'score': 10.3}, {'connected_gene': 'NIN', 'score': 9.8}, {'connected_gene': 'GC14M050675', 'score': 0.44}, {'connected_gene': 'LOC105370489', 'score': 0.17}]
chr14	GH14I050665	50665200	50671073	2.24	[{'connected_gene': 'SAV1', 'score': 566.29}, {'connected_gene': 'TMX1', 'score': 13.27}, {'connected_gene': 'POLE2', 'score': 10.48}, {'connected_gene': 'VCPKMT', 'score': 10.47}, {'connected_gene': 'MAP4K5', 'score': 7.36}, {'connected_gene': 'CDKL1', 'score': 5.58}, {'connected_gene': 'GC14M050664', 'score': 0.77}, {'connected_gene': 'GC14P050662', 'score': 0.44}]
chr14	GH14I050647	50647325	50647946	0.52	[{'connected_gene': 'SAV1', 'score': 20.32}, {'connected_gene': 'NIN', 'score': 9.62}, {'connected_gene': 'GC14M050641', 'score': 0.44}, {'connected_gene': 'PIR58064', 'score': 0.44}, {'connected_gene': 'PIR38584', 'score': 0.44}]
chr14	GH14I050657	50657412	50659352	0.69	[{'connected_gene': 'SAV1', 'score': 13.87}, {'connected_gene': 'MAP4K5', 'score': 7.31}, {'connected_gene': 'GC14P050662', 'score': 0.77}, {'connected_gene': 'PIR38584', 'score': 0.44}]
chr14	GH14I050755	50755663	50757959	0.74	[{'connected_gene': 'SAV1', 'score': 9.99}, {'connected_gene': 'GC14M050675', 'score': 0.31}, {'connected_gene': 'LOC105370489', 'score': 0.2}, {'connected_gene': 'NIN', 'score': 0.19}]
chr14	GH14I050738	50738474	50742389	0.88	[{'connected_gene': 'NIN', 'score': 10.17}, {'connected_gene': 'SAV1', 'score': 9.82}, {'connected_gene': 'GC14M050675', 'score': 0.39}, {'connected_gene': 'LOC105370489', 'score': 0.18}]
chr14	GH14I050743	50743979	50746625	0.31	[{'connected_gene': 'NIN', 'score': 10.52}, {'connected_gene': 'SAV1', 'score': 10.1}, {'connected_gene': 'GC14M050675', 'score': 0.37}, {'connected_gene': 'LOC105370489', 'score': 0.18}]
chr14	GH14I050761	50761556	50764490	1.2	[{'connected_gene': 'NIN', 'score': 14.59}, {'connected_gene': 'SAV1', 'score': 10.24}, {'connected_gene': 'GC14M050675', 'score': 0.29}, {'connected_gene': 'LOC105370489', 'score': 0.22}]
chr14	GH14I050784	50784630	50793592	1.12	[{'connected_gene': 'NIN', 'score': 21.29}, {'connected_gene': 'ENSG00000252945', 'score': 10.75}, {'connected_gene': 'ABHD12B', 'score': 10.73}, {'connected_gene': 'SAV1', 'score': 10.63}, {'connected_gene': 'LOC105370489', 'score': 0.29}, {'connected_gene': 'GC14M050675', 'score': 0.22}]
chr14	GH14I050773	50773923	50776798	1.09	[{'connected_gene': 'NIN', 'score': 11.28}, {'connected_gene': 'MAP4K5', 'score': 10.72}, {'connected_gene': 'ATL1', 'score': 10.72}, {'connected_gene': 'ABHD12B', 'score': 10.16}, {'connected_gene': 'SAV1', 'score': 4.87}, {'connected_gene': 'LOC105370489', 'score': 0.25}, {'connected_gene': 'GC14M050675', 'score': 0.25}]
chr14	GH14I050319	50319040	50322539	1.7	[{'connected_gene': 'ATP5S', 'score': 33.59}, {'connected_gene': 'KLHDC2', 'score': 12.37}, {'connected_gene': 'NEMF', 'score': 10.62}, {'connected_gene': 'SAV1', 'score': 10.58}, {'connected_gene': 'MAP4K5', 'score': 10.15}, {'connected_gene': 'CDKL1', 'score': 4.5}, {'connected_gene': 'PIR33272', 'score': 0.77}, {'connected_gene': 'L2HGDH', 'score': 0.44}]
chr14	GH14I050770	50769742	50771110	0.51	[{'connected_gene': 'ABHD12B', 'score': 10.72}, {'connected_gene': 'NIN', 'score': 10.66}, {'connected_gene': 'MAP4K5', 'score': 10.08}, {'connected_gene': 'ATL1', 'score': 10.07}, {'connected_gene': 'SAV1', 'score': 9.32}, {'connected_gene': 'GC14M050675', 'score': 0.26}, {'connected_gene': 'LOC105370489', 'score': 0.23}]
chr14	GH14I050768	50768324	50769274	0.66	[{'connected_gene': 'ABHD12B', 'score': 10.72}, {'connected_gene': 'NIN', 'score': 10.66}, {'connected_gene': 'MAP4K5', 'score': 10.08}, {'connected_gene': 'ATL1', 'score': 10.07}, {'connected_gene': 'SAV1', 'score': 6.69}, {'connected_gene': 'GC14M050675', 'score': 0.28}, {'connected_gene': 'LOC105370489', 'score': 0.23}]
chr14	GH14I051419	51419446	51420510	0.62	[{'connected_gene': 'FRMD6', 'score': 12.21}, {'connected_gene': 'SAV1', 'score': 10.55}, {'connected_gene': 'MAP4K5', 'score': 10.1}, {'connected_gene': 'GC14P051436', 'score': 0.37}, {'connected_gene': 'SETP2', 'score': 0.37}, {'connected_gene': 'LINC02310', 'score': 0.34}]
chr14	GH14I050509	50509038	50517475	0.46	[{'connected_gene': 'MAP4K5', 'score': 18.31}, {'connected_gene': 'CDKL1', 'score': 11.52}, {'connected_gene': 'SAV1', 'score': 10.11}, {'connected_gene': 'NIN', 'score': 9.47}, {'connected_gene': 'ATL1', 'score': 0.37}, {'connected_gene': 'LOC100419913', 'score': 0.26}]
chr14	GH14I050528	50528191	50534112	2.23	[{'connected_gene': 'MAP4K5', 'score': 555.86}, {'connected_gene': 'ATL1', 'score': 550.77}, {'connected_gene': 'CDKL1', 'score': 15.43}, {'connected_gene': 'SAV1', 'score': 11.27}, {'connected_gene': 'ENSG00000259113', 'score': 4.82}, {'connected_gene': 'LOC100419913', 'score': 0.22}]
chr14	GH14I050496	50496759	50499364	0.2	[{'connected_gene': 'MAP4K5', 'score': 18.34}, {'connected_gene': 'ATL1', 'score': 11.32}, {'connected_gene': 'CDKL1', 'score': 11.27}, {'connected_gene': 'SAV1', 'score': 4.95}, {'connected_gene': 'LOC100419913', 'score': 0.31}]
chr14	GH14I050675	50675030	50678895	1.42	[{'connected_gene': 'MAP4K5', 'score': 18.01}, {'connected_gene': 'ATL1', 'score': 10.2}, {'connected_gene': 'NIN', 'score': 9.49}, {'connected_gene': 'CDKL1', 'score': 6.09}, {'connected_gene': 'SAV1', 'score': 0.44}, {'connected_gene': 'GC14P050697', 'score': 0.34}, {'connected_gene': 'GC14M050675', 'score': 0.23}]
chr14	GH14I050451	50451957	50454711	0.46	[{'connected_gene': 'MAP4K5', 'score': 5.13}, {'connected_gene': 'SAV1', 'score': 4.42}, {'connected_gene': 'ENSG00000259113', 'score': 0.77}, {'connected_gene': 'GC14M050470', 'score': 0.37}, {'connected_gene': 'ENSG00000201573', 'score': 0.37}]
chr14	GH14I050650	50650355	50651936	0.94	[{'connected_gene': 'PIR38584', 'score': 550.77}, {'connected_gene': 'SAV1', 'score': 8.48}, {'connected_gene': 'CDKL1', 'score': 6.34}, {'connected_gene': 'PYGL', 'score': 4.46}, {'connected_gene': 'GC14M050641', 'score': 0.39}, {'connected_gene': 'PIR58064', 'score': 0.39}]
chr14	GH14I050659	50659423	50659592	0.46	[{'connected_gene': 'GC14P050662', 'score': 0.77}, {'connected_gene': 'SAV1', 'score': 0.44}, {'connected_gene': 'PIR38584', 'score': 0.44}]