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
ENST00000382848	[[20761608, 20763742], [20766921, 20767037]]	[[20763039, 20763720]]
ENST00000382844	[[20761610, 20763919]]	[[20763039, 20763720]]
NM_004004	[[20761601, 20763742], [20766921, 20767114]]	[[20763039, 20763720]]

Promoter

Chrom	Start	End	Description
chr13	20763282	20763295	CAGE_peak_6_at_GJB2_5end
chr13	20767067	20767083	CAGE_peak_1_at_GJB2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I020411	20411447	20413586	0.96	[{'connected_gene': 'CRYL1', 'score': 15.22}, {'connected_gene': 'GJB2', 'score': 10.89}, {'connected_gene': 'GJB6', 'score': 4.33}, {'connected_gene': 'MIR4499', 'score': 0.34}, {'connected_gene': 'LOC105370102', 'score': 0.13}]
chr13	GH13I020414	20414317	20415768	0.83	[{'connected_gene': 'CRYL1', 'score': 10.48}, {'connected_gene': 'GJB2', 'score': 6.13}, {'connected_gene': 'MIR4499', 'score': 0.37}, {'connected_gene': 'LOC105370102', 'score': 0.13}]
chr13	GH13I020425	20425570	20426519	0.51	[{'connected_gene': 'CRYL1', 'score': 10.44}, {'connected_gene': 'GJB2', 'score': 5.15}, {'connected_gene': 'MIR4499', 'score': 0.44}, {'connected_gene': 'LOC105370102', 'score': 0.12}]
chr13	GH13I020400	20400862	20401094	0.74	[{'connected_gene': 'GJB2', 'score': 13.31}, {'connected_gene': 'CRYL1', 'score': 9.88}, {'connected_gene': 'GJB6', 'score': 3.69}, {'connected_gene': 'MIR4499', 'score': 0.29}, {'connected_gene': 'LOC105370102', 'score': 0.14}]
chr13	GH13I020190	20190041	20193201	1.77	[{'connected_gene': 'GJB2', 'score': 565.69}, {'connected_gene': 'GJA3', 'score': 12.61}, {'connected_gene': 'LINC00556', 'score': 0.39}]
chr13	GH13I020405	20405402	20406268	0.81	[{'connected_gene': 'GJB2', 'score': 19.59}, {'connected_gene': 'GJB6', 'score': 7.04}, {'connected_gene': 'MIR4499', 'score': 0.31}, {'connected_gene': 'LOC105370102', 'score': 0.14}, {'connected_gene': 'CRYL1', 'score': 0.13}]
chr13	GH13I020197	20197422	20197611	0.6	[{'connected_gene': 'GJB2', 'score': 8.81}, {'connected_gene': 'ENSG00000279065', 'score': 0.77}, {'connected_gene': 'GJB6', 'score': 0.29}]
chr13	GH13I020391	20391622	20391791	0.8	[{'connected_gene': 'GJB2', 'score': 11.48}, {'connected_gene': 'MIR4499', 'score': 0.26}, {'connected_gene': 'LOC105370102', 'score': 0.15}]
chr13	GH13I020394	20394946	20396275	0.31	[{'connected_gene': 'GJB2', 'score': 11.48}, {'connected_gene': 'MIR4499', 'score': 0.28}, {'connected_gene': 'LOC105370102', 'score': 0.15}]
chr13	GH13I020182	20182362	20182511	0.59	[{'connected_gene': 'LINC00556', 'score': 550.77}, {'connected_gene': 'GJB2', 'score': 0.39}]