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
ENST00000376959	[[50815193, 50818247], [50819289, 50819348], [50823849, 50824041], [50826231, 50827339], [50831469, 50832503]]	[[50819331, 50819348], [50823849, 50824041], [50826231, 50827339], [50831469, 50832339]]
ENST00000391818	[[50815198, 50818247], [50819289, 50819348], [50823849, 50824041], [50836725, 50836772]]	[[50818018, 50818247], [50819289, 50819348], [50823849, 50824029]]
ENST00000474951	[[50815198, 50818247], [50819289, 50819348], [50823849, 50824041], [50836725, 50836772]]	[[50819331, 50819348], [50823849, 50823967]]
ENST00000477616	[[50818764, 50819348], [50823479, 50823606], [50823849, 50824041], [50826231, 50827339], [50831469, 50832634]]	[[50823502, 50823606], [50823849, 50824041], [50826231, 50827339], [50831469, 50832339]]
NR_110912	[[50815198, 50818247], [50819289, 50819348], [50823849, 50824041], [50836725, 50836772]]	None
NM_004977	[[50818764, 50819348], [50823479, 50823606], [50823849, 50824041], [50826231, 50827339], [50831469, 50832634]]	[[50823502, 50823606], [50823849, 50824041], [50826231, 50827339], [50831469, 50832339]]

Promoter

Chrom	Start	End	Description
chr19	50826826	50826845	CAGE_peak_6_at_KCNC3_5end
chr19	50831985	50832036	CAGE_peak_3_at_KCNC3_5end
chr19	50832282	50832293	CAGE_peak_4_at_KCNC3_5end
chr19	50832300	50832335	CAGE_peak_1_at_KCNC3_5end
chr19	50836762	50836777	CAGE_peak_5_at_KCNC3_5end
chr19	50836778	50836801	CAGE_peak_2_at_KCNC3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I050566	50566204	50566501	0.94	[{'connected_gene': 'LRRC4B', 'score': 553.1}, {'connected_gene': 'SYT3', 'score': 5.06}, {'connected_gene': 'KLK6', 'score': 2.52}, {'connected_gene': 'KCNC3', 'score': 1.28}, {'connected_gene': 'ENSG00000268231', 'score': 0.44}]
chr19	GH19I050329	50328264	50328413	0.89	[{'connected_gene': 'NR1H2', 'score': 550.77}, {'connected_gene': 'LOC105372437', 'score': 550.77}, {'connected_gene': 'GC19M050323', 'score': 0.77}, {'connected_gene': 'KCNC3', 'score': 0.44}]
chr19	GH19I050136	50136837	50136993	0.84	[{'connected_gene': 'PRR12', 'score': 20.06}, {'connected_gene': 'AKT1S1', 'score': 11.29}, {'connected_gene': 'SCAF1', 'score': 11.01}, {'connected_gene': 'NUP62', 'score': 10.46}, {'connected_gene': 'PTOV1', 'score': 9.91}, {'connected_gene': 'KCNC3', 'score': 1.63}, {'connected_gene': 'SNAR-B1', 'score': 0.77}, {'connected_gene': 'SNAR-B2', 'score': 0.77}]
chr19	GH19I050695	50695166	50695581	0.76	[{'connected_gene': 'ASPDH', 'score': 19.0}, {'connected_gene': 'SYT3', 'score': 15.73}, {'connected_gene': 'KCNC3', 'score': 14.8}, {'connected_gene': 'LRRC4B', 'score': 13.31}, {'connected_gene': 'SPACA6P-AS', 'score': 11.36}, {'connected_gene': 'FUZ', 'score': 9.95}, {'connected_gene': 'SHANK1', 'score': 3.95}, {'connected_gene': 'KLK6', 'score': 2.92}, {'connected_gene': 'PIR41386', 'score': 0.44}]
chr19	GH19I050529	50529773	50530659	0.31	[{'connected_gene': 'ASPDH', 'score': 8.44}, {'connected_gene': 'KCNC3', 'score': 4.93}, {'connected_gene': 'ENSG00000268231', 'score': 0.31}, {'connected_gene': 'LRRC4B', 'score': 0.28}]
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	GH19I050328	50328644	50334561	2.6	[{'connected_gene': 'KCNC3', 'score': 569.55}, {'connected_gene': 'NR1H2', 'score': 552.63}, {'connected_gene': 'LOC105372437', 'score': 550.77}, {'connected_gene': 'NUP62', 'score': 55.03}, {'connected_gene': 'PRR12', 'score': 50.28}, {'connected_gene': 'POLD1', 'score': 38.82}, {'connected_gene': 'ENSG00000268047', 'score': 25.05}, {'connected_gene': 'PTOV1-AS2', 'score': 23.11}, {'connected_gene': 'SNORD35A', 'score': 19.83}, {'connected_gene': 'CTU1', 'score': 19.51}, {'connected_gene': 'PNKP', 'score': 18.9}, {'connected_gene': 'ZNF473', 'score': 18.27}, {'connected_gene': 'PIH1D1', 'score': 17.86}, {'connected_gene': 'CPT1C', 'score': 15.07}, {'connected_gene': 'NAPSB', 'score': 12.46}, {'connected_gene': 'AKT1S1', 'score': 11.26}, {'connected_gene': 'IRF3', 'score': 11.22}, {'connected_gene': 'SNORD35B', 'score': 10.82}, {'connected_gene': 'MED25', 'score': 10.09}, {'connected_gene': 'ALDH16A1', 'score': 10.06}, {'connected_gene': 'FUZ', 'score': 9.96}, {'connected_gene': 'ADM5', 'score': 9.88}, {'connected_gene': 'PRRG2', 'score': 5.14}, {'connected_gene': 'SYT3', 'score': 3.13}, {'connected_gene': 'LRRC4B', 'score': 2.1}, {'connected_gene': 'ASPDH', 'score': 1.51}, {'connected_gene': 'MYH14', 'score': 1.51}, {'connected_gene': 'IL4I1', 'score': 1.37}, {'connected_gene': 'GPR32', 'score': 1.31}, {'connected_gene': 'SHANK1', 'score': 1.21}]
chr19	GH19I050648	50648142	50648338	0.57	[{'connected_gene': 'C19orf81', 'score': 4.61}, {'connected_gene': 'KLK4', 'score': 4.16}, {'connected_gene': 'KLK14', 'score': 1.96}, {'connected_gene': 'KCNC3', 'score': 1.84}, {'connected_gene': 'SYT3', 'score': 1.65}, {'connected_gene': 'ACP4', 'score': 1.32}, {'connected_gene': 'GC19M050639', 'score': 0.44}]
chr19	GH19I050335	50335769	50336132	0.57	[{'connected_gene': 'C19orf81', 'score': 3.56}, {'connected_gene': 'KCNC3', 'score': 2.07}, {'connected_gene': 'SYT3', 'score': 1.7}, {'connected_gene': 'ACP4', 'score': 1.43}, {'connected_gene': 'NR1H2', 'score': 0.44}, {'connected_gene': 'NAPSB', 'score': 0.44}, {'connected_gene': 'LOC105372437', 'score': 0.44}]
chr19	GH19I050356	50356999	50359983	1.75	[{'connected_gene': 'NAPSB', 'score': 41.85}, {'connected_gene': 'POLD1', 'score': 29.93}, {'connected_gene': 'NUP62', 'score': 22.66}, {'connected_gene': 'ENSG00000268047', 'score': 13.39}, {'connected_gene': 'KCNC3', 'score': 12.4}, {'connected_gene': 'SNORD35A', 'score': 11.85}, {'connected_gene': 'PTOV1-AS2', 'score': 11.82}, {'connected_gene': 'PNKP', 'score': 11.52}, {'connected_gene': 'IRF3', 'score': 11.22}, {'connected_gene': 'SNORD35B', 'score': 10.82}, {'connected_gene': 'CTU1', 'score': 10.65}, {'connected_gene': 'PRR12', 'score': 10.53}, {'connected_gene': 'FLT3LG', 'score': 10.36}, {'connected_gene': 'C19orf48', 'score': 10.27}, {'connected_gene': 'LINC01869', 'score': 10.27}, {'connected_gene': 'SNORD88C', 'score': 10.27}, {'connected_gene': 'FCGRT', 'score': 10.09}, {'connected_gene': 'ALDH16A1', 'score': 10.06}, {'connected_gene': 'ADM5', 'score': 9.87}, {'connected_gene': 'ZNF473', 'score': 9.87}, {'connected_gene': 'PIH1D1', 'score': 9.8}, {'connected_gene': 'NR1H2', 'score': 2.07}, {'connected_gene': 'VRK3', 'score': 1.97}, {'connected_gene': 'NAPSA', 'score': 0.39}, {'connected_gene': 'ENSG00000269392', 'score': 0.39}]
chr19	GH19I050346	50346075	50349983	1.09	[{'connected_gene': 'NAPSB', 'score': 71.96}, {'connected_gene': 'KCNC3', 'score': 22.81}, {'connected_gene': 'NAPSA', 'score': 12.79}, {'connected_gene': 'POLD1', 'score': 11.81}, {'connected_gene': 'JOSD2', 'score': 11.29}, {'connected_gene': 'ASPDH', 'score': 11.19}, {'connected_gene': 'FAM71E1', 'score': 11.09}, {'connected_gene': 'EMC10', 'score': 11.09}, {'connected_gene': 'KLK2', 'score': 9.56}, {'connected_gene': 'NR1H2', 'score': 0.37}, {'connected_gene': 'LOC105372437', 'score': 0.37}, {'connected_gene': 'ENSG00000269392', 'score': 0.34}]
chr19	GH19I050340	50340201	50345792	1.04	[{'connected_gene': 'NAPSB', 'score': 626.09}, {'connected_gene': 'KCNC3', 'score': 0.44}, {'connected_gene': 'NR1H2', 'score': 0.39}, {'connected_gene': 'LOC105372437', 'score': 0.39}]
chr19	GH19I050324	50324613	50326926	1.31	[{'connected_gene': 'NAPSB', 'score': 12.77}, {'connected_gene': 'KCNC3', 'score': 8.62}, {'connected_gene': 'NR1H2', 'score': 0.77}, {'connected_gene': 'GC19M050323', 'score': 0.77}]
chr19	GH19I050421	50421899	50423086	0.52	[{'connected_gene': 'PIR48260', 'score': 550.77}, {'connected_gene': 'NAPSB', 'score': 8.1}, {'connected_gene': 'KCNC3', 'score': 5.1}, {'connected_gene': 'SPIB', 'score': 0.77}, {'connected_gene': 'ENSG00000142539', 'score': 0.44}]
chr19	GH19I050311	50311684	50316859	1.4	[{'connected_gene': 'PIR40912', 'score': 550.77}, {'connected_gene': 'CPT1C', 'score': 17.5}, {'connected_gene': 'LRRC4B', 'score': 15.88}, {'connected_gene': 'POLD1', 'score': 12.46}, {'connected_gene': 'NUP62', 'score': 11.35}, {'connected_gene': 'SHANK1', 'score': 10.68}, {'connected_gene': 'PTOV1', 'score': 10.59}, {'connected_gene': 'ENSG00000268231', 'score': 10.29}, {'connected_gene': 'MED25', 'score': 10.1}, {'connected_gene': 'KCNC3', 'score': 6.17}, {'connected_gene': 'MYH14', 'score': 4.95}, {'connected_gene': 'GC19M050323', 'score': 0.44}]