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
ENST00000382208	[[11839829, 11839893], [11841929, 11842099]]	[[11839829, 11839893], [11841929, 11842099]]
NM_001033017	[[11839829, 11839893], [11841929, 11842099]]	[[11839829, 11839893], [11841929, 11842099]]

Promoter

Chrom	Start	End	Description
chr8	11839760	11839774	CAGE_peak_1_at_DEFB135_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I011996	11996304	11996363	0.5	[{'connected_gene': 'DEFB134', 'score': 550.77}, {'connected_gene': 'LOC100421446', 'score': 0.77}, {'connected_gene': 'DEFB135', 'score': 0.39}, {'connected_gene': 'GC08M011947', 'score': 0.1}]
chr8	GH08I011982	11982207	11982266	0.76	[{'connected_gene': 'DEFB135', 'score': 550.77}, {'connected_gene': 'DEFB136', 'score': 0.44}, {'connected_gene': 'GC08M011947', 'score': 0.1}]
chr8	GH08I011640	11640727	11643584	0.89	[{'connected_gene': 'GATA4', 'score': 12.07}, {'connected_gene': 'ENSG00000255518', 'score': 10.72}, {'connected_gene': 'ENSG00000255354', 'score': 10.72}, {'connected_gene': 'LOC105379241', 'score': 10.71}, {'connected_gene': 'BLK', 'score': 10.65}, {'connected_gene': 'DEFB136', 'score': 10.46}, {'connected_gene': 'DEFB135', 'score': 10.46}, {'connected_gene': 'FAM167A', 'score': 10.31}, {'connected_gene': 'ENSG00000269918', 'score': 5.9}, {'connected_gene': 'ALG1L11P', 'score': 5.55}, {'connected_gene': 'ENSG00000255310', 'score': 4.71}, {'connected_gene': 'FAM85A', 'score': 4.67}, {'connected_gene': 'LOC105379242', 'score': 0.44}]
chr8	GH08I011874	11874365	11880351	1.76	[{'connected_gene': 'FDFT1', 'score': 20.73}, {'connected_gene': 'CTSB', 'score': 19.09}, {'connected_gene': 'LOC105379243', 'score': 11.67}, {'connected_gene': 'DEFB136', 'score': 10.93}, {'connected_gene': 'DEFB135', 'score': 10.92}, {'connected_gene': 'NEIL2', 'score': 5.89}, {'connected_gene': 'PIR55200', 'score': 0.39}]
chr8	GH08I011893	11893407	11895300	0.4	[{'connected_gene': 'CTSB', 'score': 15.05}, {'connected_gene': 'DEFB136', 'score': 11.46}, {'connected_gene': 'DEFB135', 'score': 11.45}, {'connected_gene': 'FAM66A', 'score': 5.29}, {'connected_gene': 'DEFB131E', 'score': 5.07}, {'connected_gene': 'ENSG00000255144', 'score': 0.77}, {'connected_gene': 'PIR55200', 'score': 0.44}]
chr8	GH08I011890	11890601	11892568	1.55	[{'connected_gene': 'CTSB', 'score': 17.14}, {'connected_gene': 'RPS3AP34', 'score': 12.5}, {'connected_gene': 'LOC101929290', 'score': 11.6}, {'connected_gene': 'DEFB136', 'score': 11.46}, {'connected_gene': 'DEFB135', 'score': 11.44}, {'connected_gene': 'PIR55200', 'score': 0.77}, {'connected_gene': 'ENSG00000255144', 'score': 0.44}]
chr8	GH08I011942	11942312	11942481	0.87	[{'connected_gene': 'LOC105379244', 'score': 550.77}, {'connected_gene': 'DEFB136', 'score': 12.02}, {'connected_gene': 'DEFB135', 'score': 12.01}, {'connected_gene': 'ENSG00000269918', 'score': 4.61}, {'connected_gene': 'GC08P011959', 'score': 0.37}, {'connected_gene': 'PIR47001', 'score': 0.37}]
chr8	GH08I011994	11994843	11995949	0.56	[{'connected_gene': 'LOC105379241', 'score': 11.36}, {'connected_gene': 'FAM86B2', 'score': 5.98}, {'connected_gene': 'LOC100421446', 'score': 0.77}, {'connected_gene': 'DEFB134', 'score': 0.44}, {'connected_gene': 'DEFB135', 'score': 0.39}, {'connected_gene': 'GC08M011947', 'score': 0.1}]
chr8	GH08I011986	11986201	11987200	0.86	[{'connected_gene': 'LOC105379241', 'score': 11.52}, {'connected_gene': 'DEFB135', 'score': 0.77}, {'connected_gene': 'LOC100421446', 'score': 0.39}, {'connected_gene': 'GC08M011947', 'score': 0.09}]
chr8	GH08I011747	11747740	11750640	0.2	[{'connected_gene': 'LOC105379241', 'score': 22.21}, {'connected_gene': 'NEIL2', 'score': 11.25}, {'connected_gene': 'DEFB136', 'score': 10.92}, {'connected_gene': 'DEFB135', 'score': 10.91}, {'connected_gene': 'BLK', 'score': 10.8}, {'connected_gene': 'ENSG00000255354', 'score': 10.74}, {'connected_gene': 'ENSG00000255518', 'score': 10.74}, {'connected_gene': 'FAM167A', 'score': 10.65}, {'connected_gene': 'C8orf49', 'score': 9.49}, {'connected_gene': 'SUB1P1', 'score': 5.4}, {'connected_gene': 'GATA4', 'score': 0.19}, {'connected_gene': 'LOC101929490', 'score': 0.19}]
chr8	GH08I011936	11936001	11936200	0.6	[{'connected_gene': 'TRE-CTC11-1', 'score': 550.77}, {'connected_gene': 'DEFB136', 'score': 12.01}, {'connected_gene': 'DEFB135', 'score': 11.98}, {'connected_gene': 'ENSG00000269918', 'score': 11.92}, {'connected_gene': 'LOC105379244', 'score': 0.44}]
chr8	GH08I011934	11934249	11934840	0.64	[{'connected_gene': 'TRE-CTC11-1', 'score': 550.77}, {'connected_gene': 'OR7E161P', 'score': 550.77}, {'connected_gene': 'ENSG00000269918', 'score': 12.03}, {'connected_gene': 'DEFB136', 'score': 11.99}, {'connected_gene': 'DEFB135', 'score': 11.98}, {'connected_gene': 'ENSG00000269954', 'score': 7.34}]
chr8	GH08I011886	11886966	11889799	1.28	[{'connected_gene': 'PIR55200', 'score': 550.77}, {'connected_gene': 'CTSB', 'score': 14.18}, {'connected_gene': 'DEFB136', 'score': 10.88}, {'connected_gene': 'DEFB135', 'score': 10.87}, {'connected_gene': 'FDFT1', 'score': 9.82}, {'connected_gene': 'DEFB131E', 'score': 5.57}, {'connected_gene': 'FAM66D', 'score': 4.66}, {'connected_gene': 'ENSG00000255144', 'score': 0.44}]
chr8	GH08I011885	11885461	11886910	1.16	[{'connected_gene': 'PIR55200', 'score': 550.77}, {'connected_gene': 'CTSB', 'score': 17.93}, {'connected_gene': 'NEIL2', 'score': 11.59}, {'connected_gene': 'C8orf49', 'score': 11.59}, {'connected_gene': 'DEFB136', 'score': 10.88}, {'connected_gene': 'DEFB135', 'score': 10.87}, {'connected_gene': 'FDFT1', 'score': 8.68}]
chr8	GH08I011895	11895859	11899200	1.69	[{'connected_gene': 'ENSG00000255144', 'score': 550.77}, {'connected_gene': 'LOC101929290', 'score': 14.57}, {'connected_gene': 'CTSB', 'score': 13.13}, {'connected_gene': 'LOC105379241', 'score': 12.33}, {'connected_gene': 'DEFB136', 'score': 11.46}, {'connected_gene': 'DEFB135', 'score': 11.46}, {'connected_gene': 'FAM66A', 'score': 9.03}, {'connected_gene': 'OR7E158P', 'score': 0.34}]