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
ENST00000556816	[[74960422, 74960548], [74960752, 74960855], [74960977, 74961093], [74961528, 74963809]]	[[74960477, 74960548], [74960752, 74960855], [74960977, 74961093], [74961528, 74961703]]
ENST00000298818	[[74960458, 74960548], [74960752, 74960855], [74960977, 74961107], [74961541, 74962069]]	[[74960477, 74960548], [74960752, 74960855], [74960977, 74961107], [74961541, 74961564]]
ENST00000554924	[[74960467, 74960548], [74960752, 74960855], [74961528, 74961833]]	[[74960477, 74960548], [74960752, 74960855], [74961528, 74961537]]
ENST00000555139	[[74960474, 74960548], [74960752, 74960855], [74960977, 74961725]]	None
NM_001272007	[[74960422, 74960548], [74960752, 74960855], [74961528, 74962271]]	[[74960477, 74960548], [74960752, 74960855], [74961528, 74961537]]
NM_194279	[[74960422, 74960548], [74960752, 74960855], [74960977, 74961093], [74961528, 74962271]]	[[74960477, 74960548], [74960752, 74960855], [74960977, 74961093], [74961528, 74961703]]

Promoter

Chrom	Start	End	Description
chr14	74960446	74960479	CAGE_peak_1_at_ISCA2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I074509	74509461	74512530	0.63	[{'connected_gene': 'SYNDIG1L', 'score': 10.54}, {'connected_gene': 'ISCA2', 'score': 5.64}, {'connected_gene': 'GC14M074212', 'score': 0.77}, {'connected_gene': 'NPC2', 'score': 0.37}, {'connected_gene': 'LTBP2', 'score': 0.14}]
chr14	GH14I074524	74524358	74525229	0.31	[{'connected_gene': 'ISCA2', 'score': 4.58}, {'connected_gene': 'GC14M074212', 'score': 0.39}, {'connected_gene': 'ENSG00000258425', 'score': 0.31}, {'connected_gene': 'LTBP2', 'score': 0.16}]
chr14	GH14I074491	74491800	74495587	2.01	[{'connected_gene': 'NPC2', 'score': 550.77}, {'connected_gene': 'ISCA2', 'score': 550.77}, {'connected_gene': 'ENSG00000259005', 'score': 18.77}, {'connected_gene': 'ENSG00000270000', 'score': 17.88}, {'connected_gene': 'ENSG00000258891', 'score': 12.34}, {'connected_gene': 'ZNF410', 'score': 11.84}, {'connected_gene': 'GC14P074483', 'score': 0.39}, {'connected_gene': 'GC14M074212', 'score': 0.34}]
chr14	GH14I074488	74488306	74489824	0.72	[{'connected_gene': 'ENSG00000259005', 'score': 18.8}, {'connected_gene': 'SYNDIG1L', 'score': 11.82}, {'connected_gene': 'LTBP2', 'score': 9.81}, {'connected_gene': 'NPC2', 'score': 5.36}, {'connected_gene': 'ISCA2', 'score': 0.77}, {'connected_gene': 'GC14P074483', 'score': 0.44}, {'connected_gene': 'GC14M074212', 'score': 0.31}]
chr14	GH14I074487	74487915	74488056	0.22	[{'connected_gene': 'ENSG00000259005', 'score': 17.25}, {'connected_gene': 'SYNDIG1L', 'score': 10.8}, {'connected_gene': 'NPC2', 'score': 3.27}, {'connected_gene': 'PROX2', 'score': 1.49}, {'connected_gene': 'ISCA2', 'score': 0.44}, {'connected_gene': 'GC14P074483', 'score': 0.44}, {'connected_gene': 'GC14M074212', 'score': 0.31}]
chr14	GH14I074513	74513787	74515431	1.01	[{'connected_gene': 'GC14M074212', 'score': 550.77}, {'connected_gene': 'ISCA2', 'score': 6.9}, {'connected_gene': 'NPC2', 'score': 2.3}, {'connected_gene': 'ENSG00000258425', 'score': 0.28}, {'connected_gene': 'LTBP2', 'score': 0.15}]