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
ENST00000354232	[[51848422, 51848635], [51850153, 51850312], [51853582, 51853645], [51856385, 51856544], [51857403, 51860360]]	[[51848464, 51848635], [51850153, 51850312], [51853582, 51853645], [51856385, 51856544], [51857403, 51857892]]
ENST00000309244	[[51848424, 51848635], [51850153, 51850312], [51853582, 51853645], [51856385, 51856544], [51857403, 51857562], [51869523, 51869672]]	[[51848464, 51848635], [51850153, 51850312], [51853582, 51853645], [51856385, 51856544], [51857403, 51857562], [51869523, 51869580]]
ENST00000596253	[[51848538, 51848635], [51850153, 51850312], [51853582, 51853645], [51857403, 51857562], [51869523, 51869620]]	[[51848538, 51848635], [51850153, 51850312], [51853582, 51853645], [51857403, 51857562], [51869523, 51869580]]
ENST00000594361	[[51848941, 51851784]]	None
ENST00000593992	[[51853440, 51853645], [51856385, 51856544], [51857403, 51857562], [51869523, 51869603]]	None
NM_001014763	[[51848408, 51848635], [51850153, 51850312], [51853582, 51853645], [51856385, 51856544], [51857403, 51858096]]	[[51848464, 51848635], [51850153, 51850312], [51853582, 51853645], [51856385, 51856544], [51857403, 51857892]]
NM_001985	[[51848408, 51848635], [51850153, 51850312], [51853582, 51853645], [51856385, 51856544], [51857403, 51857562], [51869523, 51869672]]	[[51848464, 51848635], [51850153, 51850312], [51853582, 51853645], [51856385, 51856544], [51857403, 51857562], [51869523, 51869580]]

Promoter

Chrom	Start	End	Description
chr19	51858009	51858048	CAGE_peak_2_at_ETFB_5end
chr19	51869592	51869650	CAGE_peak_1_at_ETFB_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I051438	51438367	51438456	0.59	[{'connected_gene': 'SIGLEC12', 'score': 12.05}, {'connected_gene': 'CEACAM18', 'score': 11.44}, {'connected_gene': 'VSIG10L', 'score': 11.08}, {'connected_gene': 'SIGLEC5', 'score': 11.01}, {'connected_gene': 'SIGLEC14', 'score': 11.01}, {'connected_gene': 'RPL7P51', 'score': 11.01}, {'connected_gene': 'NKG7', 'score': 10.85}, {'connected_gene': 'CLDND2', 'score': 10.85}, {'connected_gene': 'ETFB', 'score': 10.84}, {'connected_gene': 'SPACA6', 'score': 9.86}, {'connected_gene': 'MIR125A', 'score': 9.86}, {'connected_gene': 'MIR99B', 'score': 9.86}, {'connected_gene': 'MIRLET7E', 'score': 9.86}, {'connected_gene': 'ENSG00000269181', 'score': 0.77}, {'connected_gene': 'ENSG00000268711', 'score': 0.39}]
chr19	GH19I050459	50459697	50461953	1.12	[{'connected_gene': 'PRR12', 'score': 13.29}, {'connected_gene': 'ASPDH', 'score': 6.88}, {'connected_gene': 'ETFB', 'score': 4.67}, {'connected_gene': 'EMC10', 'score': 0.37}, {'connected_gene': 'MYBPC2', 'score': 0.31}]
chr19	GH19I050649	50649401	50650273	1.18	[{'connected_gene': 'POLD1', 'score': 46.78}, {'connected_gene': 'IRF3', 'score': 35.93}, {'connected_gene': 'NUP62', 'score': 32.09}, {'connected_gene': 'PRMT1', 'score': 28.22}, {'connected_gene': 'ENSG00000268047', 'score': 25.22}, {'connected_gene': 'SIGLEC17P', 'score': 24.1}, {'connected_gene': 'BCL2L12', 'score': 23.9}, {'connected_gene': 'PTOV1', 'score': 20.32}, {'connected_gene': 'ENSG00000267808', 'score': 19.76}, {'connected_gene': 'CPT1C', 'score': 17.5}, {'connected_gene': 'LRRC4B', 'score': 15.99}, {'connected_gene': 'PTOV1-AS2', 'score': 14.75}, {'connected_gene': 'PNKP', 'score': 13.96}, {'connected_gene': 'ZNF473', 'score': 11.49}, {'connected_gene': 'SHANK1', 'score': 10.83}, {'connected_gene': 'SIGLEC6', 'score': 10.66}, {'connected_gene': 'ENSG00000268231', 'score': 10.38}, {'connected_gene': 'MED25', 'score': 10.08}, {'connected_gene': 'ADM5', 'score': 9.93}, {'connected_gene': 'ETFB', 'score': 5.11}, {'connected_gene': 'SYT3', 'score': 0.44}, {'connected_gene': 'GC19M050639', 'score': 0.39}, {'connected_gene': 'C19orf81', 'score': 0.37}]
chr19	GH19I051406	51406801	51409732	1.02	[{'connected_gene': 'NKG7', 'score': 11.92}, {'connected_gene': 'CLDND2', 'score': 11.92}, {'connected_gene': 'ETFB', 'score': 11.91}, {'connected_gene': 'SIGLEC8', 'score': 11.39}, {'connected_gene': 'VSIG10L', 'score': 11.29}, {'connected_gene': 'RPL7P51', 'score': 10.03}, {'connected_gene': 'SIGLEC5', 'score': 10.03}, {'connected_gene': 'SIGLEC14', 'score': 10.03}, {'connected_gene': 'FPR3', 'score': 9.1}, {'connected_gene': 'SIGLEC10', 'score': 6.25}, {'connected_gene': 'NIFKP6', 'score': 0.77}, {'connected_gene': 'ENSG00000254760', 'score': 0.44}, {'connected_gene': 'LOC105372446', 'score': 0.39}]
chr19	GH19I051353	51353992	51355303	1.36	[{'connected_gene': 'ETFB', 'score': 550.39}, {'connected_gene': 'SIGLEC8', 'score': 10.74}, {'connected_gene': 'SIGLEC14', 'score': 9.83}, {'connected_gene': 'RPL7P51', 'score': 9.83}, {'connected_gene': 'SIGLEC5', 'score': 9.83}, {'connected_gene': 'ENSG00000267984', 'score': 0.44}, {'connected_gene': 'ENSG00000268520', 'score': 0.39}, {'connected_gene': 'ENSG00000269403', 'score': 0.39}]
chr19	GH19I051360	51360670	51369216	2.53	[{'connected_gene': 'ETFB', 'score': 555.99}, {'connected_gene': 'ENSG00000268520', 'score': 550.77}, {'connected_gene': 'CLDND2', 'score': 550.77}, {'connected_gene': 'ZNF616', 'score': 36.29}, {'connected_gene': 'POLD1', 'score': 35.07}, {'connected_gene': 'ZNF766', 'score': 32.5}, {'connected_gene': 'ZNF836', 'score': 28.96}, {'connected_gene': 'ZNF841', 'score': 26.45}, {'connected_gene': 'ZNF577', 'score': 24.27}, {'connected_gene': 'ZNF175', 'score': 23.0}, {'connected_gene': 'LOC100419835', 'score': 20.73}, {'connected_gene': 'VSIG10L', 'score': 14.44}, {'connected_gene': 'ZNF614', 'score': 14.04}, {'connected_gene': 'ENSG00000267808', 'score': 13.87}, {'connected_gene': 'ZNF615', 'score': 13.49}, {'connected_gene': 'ZNF350', 'score': 12.23}, {'connected_gene': 'ZNF432', 'score': 11.56}, {'connected_gene': 'CTU1', 'score': 10.91}, {'connected_gene': 'ZNF649', 'score': 10.88}, {'connected_gene': 'SIGLEC6', 'score': 10.74}, {'connected_gene': 'ZNF480', 'score': 10.29}, {'connected_gene': 'SIGLEC8', 'score': 10.21}, {'connected_gene': 'ZNF613', 'score': 10.1}, {'connected_gene': 'SIGLEC5', 'score': 10.02}, {'connected_gene': 'SIGLEC14', 'score': 10.02}, {'connected_gene': 'RPL7P51', 'score': 10.02}, {'connected_gene': 'ENSG00000268316', 'score': 9.69}, {'connected_gene': 'ENSG00000269403', 'score': 0.77}, {'connected_gene': 'ENSG00000267984', 'score': 0.37}]
chr19	GH19I051326	51326286	51328200	0.99	[{'connected_gene': 'ETFB', 'score': 11.46}, {'connected_gene': 'CLDND2', 'score': 11.44}, {'connected_gene': 'NKG7', 'score': 11.43}, {'connected_gene': 'SIGLEC8', 'score': 10.61}, {'connected_gene': 'CEACAM18', 'score': 10.15}, {'connected_gene': 'SIGLEC5', 'score': 10.13}, {'connected_gene': 'SIGLEC14', 'score': 10.13}, {'connected_gene': 'RPL7P51', 'score': 10.13}, {'connected_gene': 'ENSG00000267905', 'score': 5.43}, {'connected_gene': 'GC19M051338', 'score': 0.77}, {'connected_gene': 'IGLON5', 'score': 0.37}]
chr19	GH19I051357	51357182	51357241	0.5	[{'connected_gene': 'ETFB', 'score': 550.44}, {'connected_gene': 'SIGLEC14', 'score': 9.99}, {'connected_gene': 'SIGLEC5', 'score': 9.99}, {'connected_gene': 'RPL7P51', 'score': 9.99}, {'connected_gene': 'ENSG00000268520', 'score': 0.44}, {'connected_gene': 'ENSG00000267984', 'score': 0.39}, {'connected_gene': 'ENSG00000269403', 'score': 0.39}]
chr19	GH19I051358	51358907	51360290	0.54	[{'connected_gene': 'VSIG10L', 'score': 11.45}, {'connected_gene': 'SIGLEC5', 'score': 10.71}, {'connected_gene': 'SIGLEC14', 'score': 10.71}, {'connected_gene': 'RPL7P51', 'score': 10.71}, {'connected_gene': 'SIGLEC8', 'score': 10.21}, {'connected_gene': 'ETFB', 'score': 0.44}, {'connected_gene': 'ENSG00000268520', 'score': 0.44}, {'connected_gene': 'ENSG00000269403', 'score': 0.44}, {'connected_gene': 'ENSG00000267984', 'score': 0.39}]
chr19	GH19I051349	51349465	51353328	1.01	[{'connected_gene': 'VSIG10L', 'score': 14.24}, {'connected_gene': 'SIGLEC8', 'score': 10.73}, {'connected_gene': 'SIGLEC14', 'score': 10.01}, {'connected_gene': 'RPL7P51', 'score': 10.01}, {'connected_gene': 'SIGLEC5', 'score': 10.01}, {'connected_gene': 'IGLON5', 'score': 9.55}, {'connected_gene': 'NKG7', 'score': 5.52}, {'connected_gene': 'ENSG00000267984', 'score': 0.44}, {'connected_gene': 'ENSG00000268520', 'score': 0.39}, {'connected_gene': 'ETFB', 'score': 0.37}, {'connected_gene': 'ENSG00000269403', 'score': 0.37}]
chr19	GH19I050510	50510066	50512520	2.28	[{'connected_gene': 'JOSD2', 'score': 557.16}, {'connected_gene': 'NAPSB', 'score': 12.37}, {'connected_gene': 'ASPDH', 'score': 10.42}, {'connected_gene': 'ETFB', 'score': 4.87}, {'connected_gene': 'LOC100506114', 'score': 0.34}]
chr19	GH19I050962	50962245	50962532	0.51	[{'connected_gene': 'LOC105372442', 'score': 550.77}, {'connected_gene': 'ENSG00000279676', 'score': 550.77}, {'connected_gene': 'KLK4', 'score': 14.92}, {'connected_gene': 'SIGLECL1', 'score': 10.52}, {'connected_gene': 'C19orf81', 'score': 9.79}, {'connected_gene': 'KLK14', 'score': 7.6}, {'connected_gene': 'ACP4', 'score': 4.15}, {'connected_gene': 'IGLON5', 'score': 2.1}, {'connected_gene': 'ETFB', 'score': 2.05}, {'connected_gene': 'SYT3', 'score': 1.85}, {'connected_gene': 'KLK6', 'score': 0.44}, {'connected_gene': 'KLK5', 'score': 0.44}, {'connected_gene': 'ENSG00000269495', 'score': 0.39}]
chr19	GH19I051338	51338387	51341183	1.55	[{'connected_gene': 'ENSG00000267905', 'score': 550.77}, {'connected_gene': 'ZNF841', 'score': 30.11}, {'connected_gene': 'ZNF577', 'score': 27.07}, {'connected_gene': 'POLD1', 'score': 26.43}, {'connected_gene': 'ZNF616', 'score': 26.07}, {'connected_gene': 'ZNF175', 'score': 23.22}, {'connected_gene': 'ZNF480', 'score': 20.77}, {'connected_gene': 'ZNF766', 'score': 20.09}, {'connected_gene': 'ZNF350', 'score': 19.83}, {'connected_gene': 'ZNF836', 'score': 12.72}, {'connected_gene': 'ZNF613', 'score': 12.32}, {'connected_gene': 'CLDND2', 'score': 12.16}, {'connected_gene': 'ETFB', 'score': 12.16}, {'connected_gene': 'NKG7', 'score': 12.14}, {'connected_gene': 'ZNF432', 'score': 11.75}, {'connected_gene': 'ZNF649', 'score': 11.42}, {'connected_gene': 'SIGLEC8', 'score': 10.79}, {'connected_gene': 'SIGLEC6', 'score': 10.72}, {'connected_gene': 'CEACAM18', 'score': 10.3}, {'connected_gene': 'VSIG10L', 'score': 10.19}, {'connected_gene': 'SIGLEC5', 'score': 9.97}, {'connected_gene': 'SIGLEC14', 'score': 9.97}, {'connected_gene': 'RPL7P51', 'score': 9.97}, {'connected_gene': 'LOC100419835', 'score': 9.78}, {'connected_gene': 'ENSG00000269102', 'score': 9.72}, {'connected_gene': 'GC19M051338', 'score': 0.44}]