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
ENST00000372562	[[42921787, 42922170], [42922917, 42923021], [42925273, 42925752]]	[[42922928, 42923021], [42925273, 42925597]]
ENST00000455780	[[42922172, 42922299], [42922917, 42923021], [42925273, 42926086]]	[[42922928, 42923021], [42925273, 42925597]]
ENST00000372560	[[42922209, 42922744], [42922917, 42923175]]	[[42922236, 42922744], [42922917, 42923051]]
ENST00000472013	[[42922214, 42923021], [42925273, 42926083]]	None
ENST00000372561	[[42922229, 42922744], [42922917, 42923021], [42925273, 42926085]]	[[42922236, 42922744], [42922917, 42923021], [42925273, 42925597]]
ENST00000372556	[[42922231, 42922299], [42922917, 42923021], [42925273, 42926085]]	[[42922236, 42922299], [42922917, 42923021], [42925273, 42925277]]
ENST00000471420	[[42922471, 42922744], [42922917, 42923021], [42938792, 42939056]]	None
ENST00000482168	[[42922964, 42923238], [42925273, 42925687]]	None
ENST00000469615	[[42924874, 42924976], [42925273, 42925949]]	None
NM_001287506	[[42922011, 42922170], [42922917, 42923021], [42925273, 42926901]]	[[42922928, 42923021], [42925273, 42925597]]
NM_001287507	[[42922011, 42922170], [42922917, 42923238], [42925273, 42926901]]	[[42925279, 42925597]]
NM_001287509	[[42922164, 42922254], [42922917, 42923021], [42925273, 42926901]]	[[42922928, 42923021], [42925273, 42925597]]
NM_001077447	[[42922164, 42922299], [42922917, 42923021], [42925273, 42926901]]	[[42922928, 42923021], [42925273, 42925597]]
NM_001287508	[[42922164, 42922395], [42922917, 42923021], [42925273, 42926901]]	[[42922928, 42923021], [42925273, 42925597]]
NM_024664	[[42922164, 42922744], [42922917, 42923021], [42925273, 42926901]]	[[42922236, 42922744], [42922917, 42923021], [42925273, 42925597]]
NM_001287510	[[42922164, 42923021], [42925273, 42926901]]	[[42922928, 42923021], [42925273, 42925597]]
NM_001287511	[[42922164, 42922744], [42922917, 42923021], [42938792, 42939052]]	[[42922236, 42922744], [42922917, 42923021], [42938792, 42938915]]

Promoter

Chrom	Start	End	Description
chr1	42921761	42921785	CAGE_peak_2_at_PPCS_5end
chr1	42922196	42922241	CAGE_peak_1_at_PPCS_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I042430	42430513	42432181	0.59	[{'connected_gene': 'ZMYND12', 'score': 25.89}, {'connected_gene': 'PPCS', 'score': 10.99}, {'connected_gene': 'RNU6-536P', 'score': 10.56}, {'connected_gene': 'ENSG00000236180', 'score': 10.56}, {'connected_gene': 'CCDC30', 'score': 10.4}, {'connected_gene': 'P3H1', 'score': 9.28}, {'connected_gene': 'YBX1', 'score': 8.87}, {'connected_gene': 'PIR31959', 'score': 0.39}]
chr1	GH01I042339	42339364	42341449	0.9	[{'connected_gene': 'ZMYND12', 'score': 14.96}, {'connected_gene': 'P3H1', 'score': 10.32}, {'connected_gene': 'RNU6-536P', 'score': 10.21}, {'connected_gene': 'ENSG00000236180', 'score': 10.2}, {'connected_gene': 'PPCS', 'score': 10.08}, {'connected_gene': 'GUCA2B', 'score': 9.95}, {'connected_gene': 'PPIH', 'score': 9.53}, {'connected_gene': 'YBX1', 'score': 9.46}, {'connected_gene': 'CCDC30', 'score': 9.43}, {'connected_gene': 'ENSG00000227527', 'score': 0.77}, {'connected_gene': 'GC01M042316', 'score': 0.34}]
chr1	GH01I042419	42419186	42421801	0.74	[{'connected_gene': 'ZMYND12', 'score': 24.65}, {'connected_gene': 'SVBP', 'score': 16.83}, {'connected_gene': 'PPIH', 'score': 13.84}, {'connected_gene': 'PPCS', 'score': 10.76}, {'connected_gene': 'RNU6-536P', 'score': 10.67}, {'connected_gene': 'ENSG00000236180', 'score': 10.66}, {'connected_gene': 'CLDN19', 'score': 9.92}, {'connected_gene': 'YBX1', 'score': 9.43}, {'connected_gene': 'PIR31959', 'score': 0.77}, {'connected_gene': 'RIMKLA', 'score': 0.28}]
chr1	GH01I042454	42454076	42457660	2.02	[{'connected_gene': 'PPCS', 'score': 550.77}, {'connected_gene': 'ZMYND12', 'score': 550.77}, {'connected_gene': 'CCDC30', 'score': 15.15}, {'connected_gene': 'FOXJ3', 'score': 11.45}, {'connected_gene': 'PPIH', 'score': 9.64}, {'connected_gene': 'PIR31959', 'score': 0.28}]
chr1	GH01I042465	42465319	42466624	0.62	[{'connected_gene': 'CCDC30', 'score': 15.73}, {'connected_gene': 'ZMYND12', 'score': 11.33}, {'connected_gene': 'RNU6-536P', 'score': 9.58}, {'connected_gene': 'ENSG00000236180', 'score': 9.58}, {'connected_gene': 'PPCS', 'score': 0.44}, {'connected_gene': 'RPS3AP11', 'score': 0.31}]
chr1	GH01I042461	42461918	42464163	1.42	[{'connected_gene': 'CCDC30', 'score': 565.68}, {'connected_gene': 'SZT2', 'score': 19.89}, {'connected_gene': 'ZMYND12', 'score': 14.52}, {'connected_gene': 'P3H1', 'score': 12.92}, {'connected_gene': 'PPCS', 'score': 0.44}]
chr1	GH01I042440	42440030	42440219	0.64	[{'connected_gene': 'CCDC30', 'score': 11.14}, {'connected_gene': 'RNU6-536P', 'score': 10.21}, {'connected_gene': 'ENSG00000236180', 'score': 10.2}, {'connected_gene': 'PPIH', 'score': 9.78}, {'connected_gene': 'YBX1', 'score': 9.48}, {'connected_gene': 'PPCS', 'score': 0.37}, {'connected_gene': 'ZMYND12', 'score': 0.37}, {'connected_gene': 'PIR31959', 'score': 0.34}]
chr1	GH01I042222	42222189	42222919	0.82	[{'connected_gene': 'GUCA2B', 'score': 11.04}, {'connected_gene': 'PPCS', 'score': 9.99}, {'connected_gene': 'ZMYND12', 'score': 9.99}, {'connected_gene': 'YBX1', 'score': 9.22}, {'connected_gene': 'GC01P042164', 'score': 0.22}, {'connected_gene': 'GC01M042279', 'score': 0.22}, {'connected_gene': 'PIR49391', 'score': 0.22}, {'connected_gene': 'FOXJ3', 'score': 0.14}]
chr1	GH01I042469	42469077	42469460	0.24	[{'connected_gene': 'RNU6-536P', 'score': 10.09}, {'connected_gene': 'ENSG00000236180', 'score': 10.08}, {'connected_gene': 'PPIH', 'score': 9.62}, {'connected_gene': 'RIMKLA', 'score': 2.17}, {'connected_gene': 'CCDC30', 'score': 1.77}, {'connected_gene': 'PPCS', 'score': 0.39}, {'connected_gene': 'RPS3AP11', 'score': 0.34}]
chr1	GH01I042484	42484332	42485139	0.46	[{'connected_gene': 'PPIH', 'score': 25.76}, {'connected_gene': 'ZMYND12', 'score': 21.8}, {'connected_gene': 'CCDC30', 'score': 15.02}, {'connected_gene': 'PPCS', 'score': 10.9}, {'connected_gene': 'RNU6-536P', 'score': 10.86}, {'connected_gene': 'ENSG00000236180', 'score': 10.85}, {'connected_gene': 'CLDN19', 'score': 9.5}, {'connected_gene': 'YBX1', 'score': 9.35}, {'connected_gene': 'RPS3AP11', 'score': 0.44}]