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
ENST00000539749	[[43198763, 43201701], [43204091, 43204256], [43205511, 43205925]]	[[43201432, 43201701], [43204091, 43204256], [43205511, 43205734]]
ENST00000296387	[[43198763, 43200805], [43201548, 43201701], [43203899, 43203984], [43204091, 43204256], [43205511, 43205925]]	[[43200756, 43200805], [43201548, 43201701], [43203899, 43203984], [43204091, 43204256], [43205511, 43205734]]
ENST00000372539	[[43200665, 43201701], [43203899, 43203984], [43204091, 43204256], [43205511, 43205811]]	[[43201538, 43201701], [43203899, 43203984], [43204091, 43204256], [43205511, 43205734]]
NM_001123395	[[43198763, 43201701], [43203899, 43203984], [43204091, 43204256], [43205511, 43205925]]	[[43201538, 43201701], [43203899, 43203984], [43204091, 43204256], [43205511, 43205734]]
NM_148960	[[43198763, 43200805], [43201548, 43201701], [43203899, 43203984], [43204091, 43204256], [43205511, 43205925]]	[[43200756, 43200805], [43201548, 43201701], [43203899, 43203984], [43204091, 43204256], [43205511, 43205734]]
NM_001185117	[[43198763, 43201701], [43204091, 43204256], [43205511, 43205925]]	[[43201432, 43201701], [43204091, 43204256], [43205511, 43205734]]

Promoter

Chrom	Start	End	Description
chr1	43205891	43205930	CAGE_peak_1_at_CLDN19_5end
chr1	43205948	43205957	CAGE_peak_2_at_CLDN19_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
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	GH01I042949	42949002	42964628	2.79	[{'connected_gene': 'SLC2A1', 'score': 567.66}, {'connected_gene': 'SLC2A1-AS1', 'score': 42.16}, {'connected_gene': 'SZT2', 'score': 20.73}, {'connected_gene': 'ARTN', 'score': 18.86}, {'connected_gene': 'PPIH', 'score': 13.28}, {'connected_gene': 'P3H1', 'score': 12.74}, {'connected_gene': 'MED8', 'score': 12.58}, {'connected_gene': 'RNU6-880P', 'score': 12.09}, {'connected_gene': 'ERMAP', 'score': 12.08}, {'connected_gene': 'LOC101929609', 'score': 12.05}, {'connected_gene': 'KDM4A-AS1', 'score': 11.14}, {'connected_gene': 'KDM4A', 'score': 10.02}, {'connected_gene': 'CLDN19', 'score': 3.67}, {'connected_gene': 'SVBP', 'score': 1.79}, {'connected_gene': 'ENSG00000284138', 'score': 0.77}, {'connected_gene': 'ENSG00000283973', 'score': 0.44}]
chr1	GH01I042737	42737143	42737800	0.63	[{'connected_gene': 'P3H1', 'score': 12.01}, {'connected_gene': 'C1orf50', 'score': 11.58}, {'connected_gene': 'YBX1', 'score': 10.31}, {'connected_gene': 'CLDN19', 'score': 0.77}, {'connected_gene': 'GC01M042732', 'score': 0.39}, {'connected_gene': 'GC01M042747', 'score': 0.39}, {'connected_gene': 'GC01P042719', 'score': 0.37}, {'connected_gene': 'GC01M042733', 'score': 0.2}]
chr1	GH01I042747	42747250	42747399	0.6	[{'connected_gene': 'P3H1', 'score': 9.65}, {'connected_gene': 'GC01M042732', 'score': 0.77}, {'connected_gene': 'GC01M042747', 'score': 0.77}, {'connected_gene': 'CLDN19', 'score': 0.44}, {'connected_gene': 'GC01M042733', 'score': 0.22}]
chr1	GH01I042680	42680504	42684556	2.08	[{'connected_gene': 'YBX1', 'score': 550.77}, {'connected_gene': 'SZT2', 'score': 59.39}, {'connected_gene': 'PPIH', 'score': 38.8}, {'connected_gene': 'P3H1', 'score': 25.2}, {'connected_gene': 'SVBP', 'score': 14.71}, {'connected_gene': 'MED8', 'score': 12.56}, {'connected_gene': 'ZNF691', 'score': 11.75}, {'connected_gene': 'FOXJ3', 'score': 11.56}, {'connected_gene': 'KDM4A', 'score': 11.5}, {'connected_gene': 'HYI', 'score': 10.5}, {'connected_gene': 'CLDN19', 'score': 4.12}, {'connected_gene': 'ENSG00000234917', 'score': 0.77}, {'connected_gene': 'GC01P042719', 'score': 0.28}]
chr1	GH01I042598	42598054	42598425	0.34	[{'connected_gene': 'SVBP', 'score': 18.89}, {'connected_gene': 'RNU6-536P', 'score': 11.11}, {'connected_gene': 'ENSG00000236180', 'score': 11.11}, {'connected_gene': 'PPIH', 'score': 10.57}, {'connected_gene': 'P3H1', 'score': 10.28}, {'connected_gene': 'YBX1', 'score': 10.05}, {'connected_gene': 'CLDN19', 'score': 10.01}, {'connected_gene': 'CCDC30', 'score': 1.9}, {'connected_gene': 'RIMKLA', 'score': 1.23}, {'connected_gene': 'GC01M042626', 'score': 0.29}]
chr1	GH01I042333	42333201	42337730	2.14	[{'connected_gene': 'FOXJ3', 'score': 568.35}, {'connected_gene': 'GC01P042336', 'score': 550.77}, {'connected_gene': 'GC01P042337', 'score': 550.77}, {'connected_gene': 'CCDC30', 'score': 30.13}, {'connected_gene': 'P3H1', 'score': 20.52}, {'connected_gene': 'PPIH', 'score': 19.45}, {'connected_gene': 'CLDN19', 'score': 10.41}, {'connected_gene': 'GUCA2B', 'score': 10.34}, {'connected_gene': 'RNU6-536P', 'score': 9.85}, {'connected_gene': 'ENSG00000236180', 'score': 9.85}, {'connected_gene': 'LOC105378683', 'score': 9.73}, {'connected_gene': 'YBX1', 'score': 9.5}, {'connected_gene': 'EDN2', 'score': 4.3}, {'connected_gene': 'ENSG00000227527', 'score': 0.77}, {'connected_gene': 'GC01M042316', 'score': 0.31}, {'connected_gene': 'GC01M042279', 'score': 0.22}, {'connected_gene': 'PIR49391', 'score': 0.22}]
chr1	GH01I042739	42739401	42741708	1.48	[{'connected_gene': 'CLDN19', 'score': 550.77}, {'connected_gene': 'GC01M042732', 'score': 0.44}, {'connected_gene': 'GC01M042747', 'score': 0.44}, {'connected_gene': 'GC01M042733', 'score': 0.2}]
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}]
chr1	GH01I042735	42735510	42735659	0.31	[{'connected_gene': 'PPIH', 'score': 16.22}, {'connected_gene': 'P3H1', 'score': 11.99}, {'connected_gene': 'C1orf50', 'score': 11.56}, {'connected_gene': 'YBX1', 'score': 10.32}, {'connected_gene': 'CLDN19', 'score': 0.77}, {'connected_gene': 'GC01M042732', 'score': 0.39}, {'connected_gene': 'GC01M042747', 'score': 0.39}, {'connected_gene': 'GC01P042719', 'score': 0.37}, {'connected_gene': 'GC01M042733', 'score': 0.19}]
chr1	GH01I042743	42743088	42743881	0.52	[{'connected_gene': 'PPIH', 'score': 13.52}, {'connected_gene': 'P3H1', 'score': 9.24}, {'connected_gene': 'CLDN19', 'score': 0.77}, {'connected_gene': 'GC01M042732', 'score': 0.44}, {'connected_gene': 'GC01M042747', 'score': 0.44}, {'connected_gene': 'GC01M042733', 'score': 0.21}]
chr1	GH01I042720	42720718	42721460	0.43	[{'connected_gene': 'GC01P042719', 'score': 550.77}, {'connected_gene': 'P3H1', 'score': 18.47}, {'connected_gene': 'PPIH', 'score': 10.93}, {'connected_gene': 'YBX1', 'score': 10.78}, {'connected_gene': 'CLDN19', 'score': 0.37}]