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
ENST00000250340	[[51226585, 51226929], [51227161, 51227348], [51227666, 51227858], [51228278, 51228974]]	[[51226782, 51226929], [51227161, 51227348], [51227666, 51227858], [51228278, 51228724]]
ENST00000599973	[[51226779, 51226929], [51227161, 51227348], [51227666, 51227858], [51228229, 51228726]]	[[51226782, 51226929], [51227161, 51227348], [51227666, 51227858], [51228229, 51228657]]
NM_002975	[[51226604, 51226929], [51227161, 51227348], [51227666, 51227858], [51228278, 51228981]]	[[51226782, 51226929], [51227161, 51227348], [51227666, 51227858], [51228278, 51228724]]

Promoter

Chrom	Start	End	Description
chr19	51226573	51226607	CAGE_peak_2_at_CLEC11A_5end
chr19	51226611	51226634	CAGE_peak_1_at_CLEC11A_5end
chr19	51226648	51226668	CAGE_peak_3_at_CLEC11A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I050843	50843016	50845166	0.65	[{'connected_gene': 'ZNF175', 'score': 16.29}, {'connected_gene': 'KLK1', 'score': 11.88}, {'connected_gene': 'LINC01869', 'score': 11.82}, {'connected_gene': 'SNORD88C', 'score': 11.69}, {'connected_gene': 'SNORD88A', 'score': 11.69}, {'connected_gene': 'SNORD88B', 'score': 11.69}, {'connected_gene': 'C19orf48', 'score': 11.38}, {'connected_gene': 'CLEC11A', 'score': 10.37}, {'connected_gene': 'KLK14', 'score': 9.65}, {'connected_gene': 'KLK3', 'score': 5.94}, {'connected_gene': 'KLK15', 'score': 0.44}, {'connected_gene': 'LOC105372441', 'score': 0.39}]
chr19	GH19I050720	50720488	50726224	2.32	[{'connected_gene': 'CLEC11A', 'score': 570.56}, {'connected_gene': 'C19orf48', 'score': 12.17}, {'connected_gene': 'GPR32', 'score': 12.16}, {'connected_gene': 'AKT1S1', 'score': 11.24}, {'connected_gene': 'SNORD88A', 'score': 10.93}, {'connected_gene': 'SNORD88C', 'score': 10.93}, {'connected_gene': 'SNORD88B', 'score': 10.93}, {'connected_gene': 'LINC01869', 'score': 10.7}, {'connected_gene': 'NUP62', 'score': 10.4}, {'connected_gene': 'KLK1', 'score': 10.36}, {'connected_gene': 'KLK15', 'score': 10.35}, {'connected_gene': 'EMC10', 'score': 5.82}, {'connected_gene': 'KLK8', 'score': 4.82}, {'connected_gene': 'SHANK1', 'score': 4.19}, {'connected_gene': 'GPR32P1', 'score': 0.29}]
chr19	GH19I050740	50740184	50740333	0.56	[{'connected_gene': 'CLEC11A', 'score': 0.37}, {'connected_gene': 'GPR32P1', 'score': 0.37}]
chr19	GH19I050718	50718178	50719801	1.5	[{'connected_gene': 'SHANK1', 'score': 554.08}, {'connected_gene': 'CLEC11A', 'score': 15.65}, {'connected_gene': 'SPACA6P-AS', 'score': 11.36}, {'connected_gene': 'FUZ', 'score': 9.95}, {'connected_gene': 'SYT3', 'score': 7.13}, {'connected_gene': 'LRRC4B', 'score': 6.14}, {'connected_gene': 'ASPDH', 'score': 4.48}, {'connected_gene': 'KCNC3', 'score': 2.99}, {'connected_gene': 'PIR41386', 'score': 0.37}]
chr19	GH19I050719	50719844	50719913	0.64	[{'connected_gene': 'SHANK1', 'score': 550.77}, {'connected_gene': 'SPACA6P-AS', 'score': 11.36}, {'connected_gene': 'FUZ', 'score': 9.95}, {'connected_gene': 'CLEC11A', 'score': 0.77}]
chr19	GH19I050845	50845195	50846237	0.2	[{'connected_gene': 'KLK1', 'score': 11.88}, {'connected_gene': 'LINC01869', 'score': 11.82}, {'connected_gene': 'SNORD88C', 'score': 11.69}, {'connected_gene': 'SNORD88A', 'score': 11.68}, {'connected_gene': 'SNORD88B', 'score': 11.68}, {'connected_gene': 'C19orf48', 'score': 11.57}, {'connected_gene': 'CLEC11A', 'score': 10.37}, {'connected_gene': 'KLK15', 'score': 0.44}, {'connected_gene': 'KLK3', 'score': 0.44}, {'connected_gene': 'LOC105372441', 'score': 0.37}]
chr19	GH19I050727	50727830	50729133	1.11	[{'connected_gene': 'GPR32', 'score': 12.18}, {'connected_gene': 'SNORD88A', 'score': 10.94}, {'connected_gene': 'SNORD88C', 'score': 10.94}, {'connected_gene': 'SNORD88B', 'score': 10.94}, {'connected_gene': 'C19orf48', 'score': 10.71}, {'connected_gene': 'LINC01869', 'score': 10.71}, {'connected_gene': 'KLK1', 'score': 10.37}, {'connected_gene': 'KLK15', 'score': 10.36}, {'connected_gene': 'FUZ', 'score': 5.51}, {'connected_gene': 'CLEC11A', 'score': 0.44}, {'connected_gene': 'GPR32P1', 'score': 0.31}]
chr19	GH19I050546	50546544	50548877	0.38	[{'connected_gene': 'GPR32', 'score': 11.71}, {'connected_gene': 'CLEC11A', 'score': 10.85}, {'connected_gene': 'LRRC4B', 'score': 5.01}, {'connected_gene': 'ENSG00000268231', 'score': 0.39}, {'connected_gene': 'ASPDH', 'score': 0.29}]
chr19	GH19I050541	50541081	50543904	0.52	[{'connected_gene': 'GPR32', 'score': 11.71}, {'connected_gene': 'CLEC11A', 'score': 10.84}, {'connected_gene': 'ENSG00000268231', 'score': 0.37}, {'connected_gene': 'LRRC4B', 'score': 0.31}, {'connected_gene': 'ASPDH', 'score': 0.31}]
chr19	GH19I049746	49746043	49746787	1.08	[{'connected_gene': 'LOC105372434', 'score': 550.77}, {'connected_gene': 'SNRNP70', 'score': 16.38}, {'connected_gene': 'ENSG00000268047', 'score': 15.47}, {'connected_gene': 'PRR12', 'score': 14.72}, {'connected_gene': 'CPT1C', 'score': 12.23}, {'connected_gene': 'ADM5', 'score': 12.23}, {'connected_gene': 'PRMT1', 'score': 12.2}, {'connected_gene': 'PTOV1-AS2', 'score': 11.81}, {'connected_gene': 'NUP62', 'score': 10.84}, {'connected_gene': 'PIH1D1', 'score': 10.83}, {'connected_gene': 'CLEC11A', 'score': 10.63}, {'connected_gene': 'TSKS', 'score': 0.37}, {'connected_gene': 'RPS9P4', 'score': 0.31}]
chr19	GH19I050482	50482375	50483992	0.2	[{'connected_gene': 'ENSG00000268854', 'score': 550.77}, {'connected_gene': 'GC19P050484', 'score': 550.77}, {'connected_gene': 'NAPSA', 'score': 11.79}, {'connected_gene': 'NR1H2', 'score': 11.75}, {'connected_gene': 'CLEC11A', 'score': 9.7}, {'connected_gene': 'ASPDH', 'score': 6.88}, {'connected_gene': 'GC19P050481', 'score': 0.77}, {'connected_gene': 'EMC10', 'score': 0.44}]
chr19	GH19I050479	50479168	50479853	1	[{'connected_gene': 'GC19P050481', 'score': 550.77}, {'connected_gene': 'NAPSA', 'score': 11.79}, {'connected_gene': 'NR1H2', 'score': 11.76}, {'connected_gene': 'CLEC11A', 'score': 9.7}, {'connected_gene': 'LOC100506114', 'score': 6.06}, {'connected_gene': 'FAM71E1', 'score': 0.77}, {'connected_gene': 'EMC10', 'score': 0.77}]
chr19	GH19I049889	49889624	49891853	1.39	[{'connected_gene': 'ENSG00000268047', 'score': 14.06}, {'connected_gene': 'PTOV1', 'score': 14.04}, {'connected_gene': 'SNRNP70', 'score': 13.45}, {'connected_gene': 'PRR12', 'score': 12.75}, {'connected_gene': 'CLEC11A', 'score': 11.13}, {'connected_gene': 'PTOV1-AS2', 'score': 10.21}, {'connected_gene': 'PRMT1', 'score': 9.87}, {'connected_gene': 'PNKP', 'score': 5.39}, {'connected_gene': 'MIR4750', 'score': 0.77}, {'connected_gene': 'PIR32099', 'score': 0.37}, {'connected_gene': 'IL4I1', 'score': 0.28}]
chr19	GH19I051393	51393637	51396457	1.89	[{'connected_gene': 'ENSG00000268889', 'score': 550.77}, {'connected_gene': 'LOC105372446', 'score': 550.77}, {'connected_gene': 'ZNF841', 'score': 93.13}, {'connected_gene': 'ZNF766', 'score': 91.68}, {'connected_gene': 'ZNF577', 'score': 88.91}, {'connected_gene': 'ZNF616', 'score': 81.03}, {'connected_gene': 'ZNF175', 'score': 78.22}, {'connected_gene': 'ZNF836', 'score': 74.83}, {'connected_gene': 'ZNF432', 'score': 58.11}, {'connected_gene': 'ZNF614', 'score': 47.68}, {'connected_gene': 'SPACA6P-AS', 'score': 42.37}, {'connected_gene': 'ZNF610', 'score': 39.17}, {'connected_gene': 'ZNF613', 'score': 38.03}, {'connected_gene': 'ENSG00000267808', 'score': 31.96}, {'connected_gene': 'ZNF615', 'score': 30.73}, {'connected_gene': 'CTU1', 'score': 25.82}, {'connected_gene': 'LOC100419835', 'score': 25.37}, {'connected_gene': 'SIGLEC17P', 'score': 22.07}, {'connected_gene': 'SPACA6', 'score': 21.71}, {'connected_gene': 'C19orf84', 'score': 20.56}, {'connected_gene': 'ZNF880', 'score': 19.25}, {'connected_gene': 'ENSG00000268015', 'score': 19.15}, {'connected_gene': 'ENSG00000269535', 'score': 18.82}, {'connected_gene': 'ENSG00000268316', 'score': 18.77}, {'connected_gene': 'ENSG00000269102', 'score': 17.98}, {'connected_gene': 'CLEC11A', 'score': 10.63}, {'connected_gene': 'ZNF480', 'score': 10.09}, {'connected_gene': 'ENSG00000269483', 'score': 9.75}, {'connected_gene': 'SIGLEC14', 'score': 7.55}, {'connected_gene': 'HAS1', 'score': 5.32}, {'connected_gene': 'FPR1', 'score': 4.51}, {'connected_gene': 'SIGLEC9', 'score': 4.28}, {'connected_gene': 'FPR2', 'score': 3.78}, {'connected_gene': 'SIGLEC10', 'score': 3.16}, {'connected_gene': 'FPR3', 'score': 2.05}, {'connected_gene': 'CD33', 'score': 1.38}, {'connected_gene': 'NIFKP6', 'score': 0.44}]