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
ENST00000378720	[[47345390, 47345631], [47351590, 47351758], [47354069, 47354168], [47355630, 47355750], [47356801, 47356926], [47358386, 47358485], [47361155, 47361244], [47365480, 47365555], [47367531, 47367579], [47371239, 47371367]]	[[47345550, 47345631], [47351590, 47351758], [47354069, 47354168], [47355630, 47355750], [47356801, 47356926], [47358386, 47358485], [47361155, 47361244], [47365480, 47365548]]
ENST00000378697	[[47345469, 47345631], [47351590, 47351758], [47354069, 47354168], [47355630, 47355750], [47356801, 47356926], [47358386, 47358485], [47361155, 47361244], [47364731, 47364796], [47365480, 47365555], [47367531, 47367579], [47371239, 47371268]]	[[47345550, 47345631], [47351590, 47351758], [47354069, 47354168], [47355630, 47355750], [47356801, 47356926], [47358386, 47358485], [47361155, 47361225]]
ENST00000412582	[[47349517, 47349827], [47351590, 47351758], [47354069, 47354168], [47355630, 47355750], [47356801, 47356926], [47358386, 47358485]]	[[47349746, 47349827], [47351590, 47351758], [47354069, 47354168], [47355630, 47355750], [47356801, 47356926], [47358386, 47358485]]
ENST00000471867	[[47349520, 47351758], [47354069, 47354168], [47355630, 47355703]]	[[47351569, 47351758], [47354069, 47354168], [47355630, 47355703]]
ENST00000495654	[[47354088, 47354168], [47355630, 47355750], [47356801, 47356926], [47358386, 47358485], [47359783, 47359854], [47361155, 47361244], [47365480, 47365555], [47367531, 47367573]]	None
NM_001984	[[47345390, 47345631], [47351590, 47351758], [47354069, 47354168], [47355630, 47355750], [47356801, 47356926], [47358386, 47358485], [47361155, 47361244], [47365480, 47365555], [47367531, 47367579], [47371239, 47371367]]	[[47345550, 47345631], [47351590, 47351758], [47354069, 47354168], [47355630, 47355750], [47356801, 47356926], [47358386, 47358485], [47361155, 47361244], [47365480, 47365548]]

Promoter

Chrom	Start	End	Description
chr13	47371266	47371308	CAGE_peak_1_at_ESD_5end
chr13	47371310	47371321	CAGE_peak_2_at_ESD_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I046199	46199426	46200894	0.86	[{'connected_gene': 'RCN1P2', 'score': 13.13}, {'connected_gene': 'COG3', 'score': 10.6}, {'connected_gene': 'ESD', 'score': 10.15}, {'connected_gene': 'RNU2-6P', 'score': 9.95}, {'connected_gene': 'LRRC63', 'score': 5.25}, {'connected_gene': 'LOC105370192', 'score': 0.39}, {'connected_gene': 'LCP1', 'score': 0.39}]
chr13	GH13I046638	46638708	46642941	1.17	[{'connected_gene': 'LRCH1', 'score': 18.19}, {'connected_gene': 'ESD', 'score': 10.41}, {'connected_gene': 'RUBCNL', 'score': 6.26}, {'connected_gene': 'GC13P046617', 'score': 0.34}, {'connected_gene': 'ENSG00000278462', 'score': 0.18}]
chr13	GH13I046795	46795965	46798510	2.04	[{'connected_gene': 'ESD', 'score': 557.36}, {'connected_gene': 'HTR2A', 'score': 6.19}, {'connected_gene': 'GC13P046789', 'score': 0.44}]
chr13	GH13I046759	46759966	46760115	0.62	[{'connected_gene': 'ESD', 'score': 11.1}, {'connected_gene': 'LRCH1', 'score': 10.17}, {'connected_gene': 'HTR2A', 'score': 9.17}, {'connected_gene': 'GC13P046789', 'score': 0.31}, {'connected_gene': 'ENSG00000278462', 'score': 0.26}]
chr13	GH13I046757	46757086	46757235	0.49	[{'connected_gene': 'ESD', 'score': 11.08}, {'connected_gene': 'LRCH1', 'score': 10.17}, {'connected_gene': 'HTR2A', 'score': 9.17}, {'connected_gene': 'GC13P046789', 'score': 0.29}, {'connected_gene': 'ENSG00000278462', 'score': 0.28}]
chr13	GH13I046749	46749131	46750912	0.38	[{'connected_gene': 'ESD', 'score': 10.25}, {'connected_gene': 'LRCH1', 'score': 5.05}, {'connected_gene': 'ENSG00000278462', 'score': 0.29}, {'connected_gene': 'GC13P046789', 'score': 0.28}]
chr13	GH13I046751	46751570	46752400	0.91	[{'connected_gene': 'ESD', 'score': 10.35}, {'connected_gene': 'ENSG00000278462', 'score': 0.29}, {'connected_gene': 'GC13P046789', 'score': 0.28}, {'connected_gene': 'LRCH1', 'score': 0.08}]
chr13	GH13I046803	46803089	46805244	0.46	[{'connected_gene': 'HTR2A-AS1', 'score': 10.73}, {'connected_gene': 'ESD', 'score': 6.04}, {'connected_gene': 'GC13M046836', 'score': 0.29}, {'connected_gene': 'GC13M046835', 'score': 0.29}]