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
ENST00000464081	[[43232962, 43233061], [43240407, 43240539], [43240879, 43241150], [43258475, 43258573], [43259271, 43259415], [43260083, 43260164]]	[[43232982, 43233061], [43240407, 43240457]]
ENST00000603943	[[43232976, 43233295], [43239216, 43239320], [43240407, 43240539], [43240879, 43241193], [43255466, 43255608]]	[[43232982, 43233295], [43239216, 43239233]]
ENST00000536543	[[43232976, 43233295], [43239216, 43239320], [43240407, 43240539], [43240879, 43241193], [43255466, 43255605], [43258475, 43258573], [43259271, 43259415], [43260083, 43260284], [43263768, 43263875]]	[[43255468, 43255605], [43258475, 43258573], [43259271, 43259415], [43260083, 43260284], [43263768, 43263875]]
ENST00000372525	[[43232939, 43233061], [43233179, 43233295], [43239233, 43239320], [43240407, 43240539], [43240879, 43241418]]	[[43232982, 43233061], [43233179, 43233295], [43239233, 43239320], [43240407, 43240539], [43240879, 43241065]]
ENST00000468913	[[43235348, 43235498], [43239233, 43239320], [43240407, 43240539], [43240879, 43241099]]	None
ENST00000494155	[[43238857, 43239320], [43240407, 43240441]]	None
ENST00000421630	[[43255479, 43255605], [43258475, 43258573], [43259271, 43259415], [43260083, 43260284], [43263768, 43263968]]	[[43255479, 43255605], [43258475, 43258573], [43259271, 43259415], [43260083, 43260284], [43263768, 43263896]]
ENST00000438946	[[43259317, 43259415], [43260083, 43260284], [43263502, 43263628]]	[[43259317, 43259415], [43260083, 43260284], [43263502, 43263588]]
ENST00000605272	[[43259335, 43259415], [43260083, 43260284], [43262230, 43262465]]	[[43259335, 43259415], [43260083, 43260284], [43262230, 43262445]]
NR_040733	[[43232915, 43233061], [43239233, 43239320], [43240407, 43240539], [43240879, 43241413]]	None
NM_024097	[[43232915, 43233061], [43233179, 43233295], [43239233, 43239320], [43240407, 43240539], [43240879, 43241413]]	[[43232982, 43233061], [43233179, 43233295], [43239233, 43239320], [43240407, 43240539], [43240879, 43241065]]

Promoter

Chrom	Start	End	Description
chr1	43232913	43232982	CAGE_peak_1_at_C1orf50_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
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	GH01I042764	42764465	42768436	2.06	[{'connected_gene': 'P3H1', 'score': 557.72}, {'connected_gene': 'C1orf50', 'score': 550.77}, {'connected_gene': 'ENSG00000283580', 'score': 550.77}, {'connected_gene': 'SVBP', 'score': 35.64}, {'connected_gene': 'PPIH', 'score': 29.45}, {'connected_gene': 'SZT2', 'score': 13.26}, {'connected_gene': 'KDM4A-AS1', 'score': 12.44}, {'connected_gene': 'MED8', 'score': 10.21}, {'connected_gene': 'ZNF691', 'score': 6.02}, {'connected_gene': 'GC01M042747', 'score': 0.37}, {'connected_gene': 'GC01M042733', 'score': 0.28}]
chr1	GH01I043090	43090470	43092225	0.38	[{'connected_gene': 'FAM183A', 'score': 18.33}, {'connected_gene': 'RNU6-880P', 'score': 10.54}, {'connected_gene': 'P3H1', 'score': 10.52}, {'connected_gene': 'C1orf50', 'score': 10.52}, {'connected_gene': 'PPIH', 'score': 8.95}, {'connected_gene': 'SZT2', 'score': 8.66}, {'connected_gene': 'ENSG00000277513', 'score': 0.39}, {'connected_gene': 'GC01P043068', 'score': 0.34}]
chr1	GH01I042689	42689711	42694665	0.72	[{'connected_gene': 'SVBP', 'score': 13.78}, {'connected_gene': 'PPIH', 'score': 13.51}, {'connected_gene': 'C1orf50', 'score': 9.99}, {'connected_gene': 'ZMYND12', 'score': 7.0}, {'connected_gene': 'YBX1', 'score': 0.44}, {'connected_gene': 'GC01P042719', 'score': 0.31}]
chr1	GH01I042170	42170541	42176367	1.06	[{'connected_gene': 'FOXJ3', 'score': 6.48}, {'connected_gene': 'C1orf50', 'score': 6.4}, {'connected_gene': 'SVBP', 'score': 4.7}, {'connected_gene': 'RIMKLA', 'score': 4.29}, {'connected_gene': 'GC01P042164', 'score': 0.44}, {'connected_gene': 'GC01M042279', 'score': 0.14}, {'connected_gene': 'PIR49391', 'score': 0.14}]
chr1	GH01I042824	42824340	42826346	1.69	[{'connected_gene': 'ERMAP', 'score': 550.44}, {'connected_gene': 'ZNF691', 'score': 11.13}, {'connected_gene': 'ENSG00000228192', 'score': 11.13}, {'connected_gene': 'P3H1', 'score': 10.1}, {'connected_gene': 'C1orf50', 'score': 10.1}, {'connected_gene': 'KDM4A', 'score': 10.02}, {'connected_gene': 'SVBP', 'score': 9.52}, {'connected_gene': 'SZT2', 'score': 8.94}]
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}]