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
ENST00000378251	[[3696783, 3697900], [3698075, 3698165], [3699224, 3699327], [3700559, 3700675], [3701650, 3701767], [3703412, 3703874], [3712425, 3713068]]	[[3697651, 3697900], [3698075, 3698165], [3699224, 3699327], [3700559, 3700675], [3701650, 3701767], [3703412, 3703874], [3712425, 3713040]]
ENST00000462356	[[3697698, 3697900], [3698075, 3698165], [3699224, 3699327], [3700559, 3700739]]	None
ENST00000479239	[[3697853, 3697900], [3698075, 3698165], [3699224, 3699327], [3700333, 3700475], [3700559, 3700611]]	[[3700375, 3700475], [3700559, 3700611]]
NM_020710	[[3696783, 3697900], [3698075, 3698165], [3699224, 3699327], [3700559, 3700675], [3701650, 3701767], [3703412, 3703874], [3712425, 3713068]]	[[3697651, 3697900], [3698075, 3698165], [3699224, 3699327], [3700559, 3700675], [3701650, 3701767], [3703412, 3703874], [3712425, 3713040]]

Promoter

Chrom	Start	End	Description
chr1	3713042	3713081	CAGE_peak_1_at_LRRC47_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I003843	3843001	3843400	0.31	[{'connected_gene': 'CEP104', 'score': 37.77}, {'connected_gene': 'SMIM1', 'score': 7.12}, {'connected_gene': 'DFFB', 'score': 0.39}, {'connected_gene': 'LRRC47', 'score': 0.25}]
chr1	GH01I003855	3855187	3855246	0.5	[{'connected_gene': 'CEP104', 'score': 550.77}, {'connected_gene': 'DFFB', 'score': 550.77}, {'connected_gene': 'LRRC47', 'score': 0.22}]
chr1	GH01I003795	3795086	3797526	2.07	[{'connected_gene': 'LRRC47', 'score': 555.24}, {'connected_gene': 'PIR46973', 'score': 550.77}, {'connected_gene': 'C1orf174', 'score': 19.65}, {'connected_gene': 'CEP104', 'score': 18.92}, {'connected_gene': 'SMIM1', 'score': 18.42}, {'connected_gene': 'WRAP73', 'score': 16.03}, {'connected_gene': 'ENSG00000272153', 'score': 14.32}]
chr1	GH01I004224	4224258	4225573	0.2	[{'connected_gene': 'LRRC47', 'score': 4.82}, {'connected_gene': 'GC01M004221', 'score': 0.77}, {'connected_gene': 'GC01P004227', 'score': 0.77}]
chr1	GH01I003792	3792714	3794515	0.8	[{'connected_gene': 'SMIM1', 'score': 18.47}, {'connected_gene': 'CEP104', 'score': 18.34}, {'connected_gene': 'LRRC47', 'score': 11.41}, {'connected_gene': 'PIR46973', 'score': 0.77}, {'connected_gene': 'ENSG00000272153', 'score': 0.44}]
chr1	GH01I003787	3787131	3788511	0.69	[{'connected_gene': 'SMIM1', 'score': 21.74}, {'connected_gene': 'CEP104', 'score': 21.38}, {'connected_gene': 'ENSG00000272153', 'score': 0.77}, {'connected_gene': 'PIR46973', 'score': 0.44}, {'connected_gene': 'LRRC47', 'score': 0.44}]
chr1	GH01I003771	3771634	3776875	2.27	[{'connected_gene': 'SMIM1', 'score': 581.69}, {'connected_gene': 'CEP104', 'score': 28.38}, {'connected_gene': 'C1orf174', 'score': 16.45}, {'connected_gene': 'WRAP73', 'score': 13.59}, {'connected_gene': 'ENSG00000272153', 'score': 11.94}, {'connected_gene': 'TP73-AS1', 'score': 10.26}, {'connected_gene': 'LRRC47', 'score': 6.28}, {'connected_gene': 'GC01P003777', 'score': 0.77}, {'connected_gene': 'CCDC27', 'score': 0.31}]
chr1	GH01I003811	3811361	3811800	0.69	[{'connected_gene': 'SMIM1', 'score': 18.19}, {'connected_gene': 'LRRC47', 'score': 0.37}, {'connected_gene': 'DFFB', 'score': 0.25}]
chr1	GH01I003899	3899117	3901831	2.63	[{'connected_gene': 'C1orf174', 'score': 645.33}, {'connected_gene': 'PIR46444', 'score': 550.77}, {'connected_gene': 'LINC01134', 'score': 550.77}, {'connected_gene': 'PIR33659', 'score': 550.77}, {'connected_gene': 'TP73-AS1', 'score': 105.52}, {'connected_gene': 'WRAP73', 'score': 76.91}, {'connected_gene': 'ENSG00000272153', 'score': 68.86}, {'connected_gene': 'DFFB', 'score': 46.61}, {'connected_gene': 'CEP104', 'score': 19.27}, {'connected_gene': 'MEGF6', 'score': 9.91}, {'connected_gene': 'LRRC47', 'score': 2.02}]
chr1	GH01I003618	3618629	3619785	1.02	[{'connected_gene': 'TPRG1L', 'score': 15.47}, {'connected_gene': 'WRAP73', 'score': 5.81}, {'connected_gene': 'LRRC47', 'score': 5.44}, {'connected_gene': 'TTC34', 'score': 4.57}, {'connected_gene': 'ENSG00000238260', 'score': 0.44}, {'connected_gene': 'MEGF6', 'score': 0.44}, {'connected_gene': 'LOC105378607', 'score': 0.37}, {'connected_gene': 'GC01M003596', 'score': 0.26}]
chr1	GH01I003785	3785067	3785663	0.72	[{'connected_gene': 'GC01M003782', 'score': 550.77}, {'connected_gene': 'ENSG00000272153', 'score': 550.77}, {'connected_gene': 'CEP104', 'score': 8.7}, {'connected_gene': 'PIR46973', 'score': 0.39}, {'connected_gene': 'LRRC47', 'score': 0.39}]
chr1	GH01I004222	4222008	4224078	0.2	[{'connected_gene': 'GC01M004221', 'score': 550.77}, {'connected_gene': 'LRRC47', 'score': 4.65}, {'connected_gene': 'GC01P004227', 'score': 0.77}]