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
ENST00000252288	[[1397090, 1397498], [1398914, 1399025], [1399126, 1399194], [1399522, 1399586], [1399791, 1399937], [1401294, 1401542]]	[[1397357, 1397498], [1398914, 1399025], [1399126, 1399194], [1399522, 1399586], [1399791, 1399937], [1401294, 1401475]]
ENST00000447102	[[1398251, 1399025], [1399126, 1399194], [1399522, 1399586], [1399791, 1399937], [1401294, 1401569]]	[[1398674, 1399025], [1399126, 1399194], [1399522, 1399586], [1399791, 1399937], [1401294, 1401475]]
ENST00000591788	[[1398598, 1398746], [1398914, 1399025], [1399126, 1399194], [1399522, 1399590]]	[[1398674, 1398746], [1398914, 1399025], [1399126, 1399194], [1399522, 1399590]]
NM_000156	[[1397024, 1397498], [1398914, 1399025], [1399126, 1399194], [1399522, 1399586], [1399791, 1399937], [1401294, 1401569]]	[[1397357, 1397498], [1398914, 1399025], [1399126, 1399194], [1399522, 1399586], [1399791, 1399937], [1401294, 1401475]]
NM_138924	[[1397809, 1399025], [1399126, 1399194], [1399522, 1399586], [1399791, 1399937], [1401294, 1401569]]	[[1398674, 1399025], [1399126, 1399194], [1399522, 1399586], [1399791, 1399937], [1401294, 1401475]]

Promoter

Chrom	Start	End	Description
chr19	1401486	1401570	CAGE_peak_1_at_GAMT_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I001399	1399495	1402111	2.2	[{'connected_gene': 'GAMT', 'score': 560.41}, {'connected_gene': 'SF3A2', 'score': 27.12}, {'connected_gene': 'DAZAP1', 'score': 23.51}, {'connected_gene': 'TCF3', 'score': 17.13}, {'connected_gene': 'PTBP1', 'score': 16.43}, {'connected_gene': 'TMEM259', 'score': 15.42}, {'connected_gene': 'ENSG00000267317', 'score': 14.76}, {'connected_gene': 'LOC100288123', 'score': 13.46}, {'connected_gene': 'GRIN3B', 'score': 10.56}, {'connected_gene': 'MED16', 'score': 9.94}, {'connected_gene': 'CNN2', 'score': 9.86}, {'connected_gene': 'SBNO2', 'score': 9.85}, {'connected_gene': 'MUM1', 'score': 5.94}, {'connected_gene': 'POLRMT', 'score': 4.99}, {'connected_gene': 'ENSG00000248015', 'score': 0.77}]
chr19	GH19I001402	1402510	1403511	0.79	[{'connected_gene': 'GAMT', 'score': 555.97}, {'connected_gene': 'EFNA2', 'score': 5.86}, {'connected_gene': 'DAZAP1', 'score': 0.77}]
chr19	GH19I001283	1283286	1285782	1.15	[{'connected_gene': 'EFNA2', 'score': 562.92}, {'connected_gene': 'C19orf24', 'score': 12.62}, {'connected_gene': 'REEP6', 'score': 5.0}, {'connected_gene': 'GAMT', 'score': 1.28}, {'connected_gene': 'ONECUT3', 'score': 1.17}]
chr19	GH19I001546	1546262	1546411	0.86	[{'connected_gene': 'ATP8B3', 'score': 11.92}, {'connected_gene': 'REXO1', 'score': 11.91}, {'connected_gene': 'TCF3', 'score': 11.84}, {'connected_gene': 'REEP6', 'score': 11.6}, {'connected_gene': 'PCSK4', 'score': 11.6}, {'connected_gene': 'C19orf25', 'score': 11.58}, {'connected_gene': 'RNU6-1223P', 'score': 11.53}, {'connected_gene': 'DAZAP1', 'score': 10.88}, {'connected_gene': 'ENSG00000248015', 'score': 10.87}, {'connected_gene': 'GAMT', 'score': 10.87}, {'connected_gene': 'GC19M001551', 'score': 0.77}, {'connected_gene': 'PLK5', 'score': 0.34}]