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
ENST00000296589	[[33944720, 33944977], [33947267, 33947479], [33951658, 33951782], [33954465, 33954609], [33963795, 33964121], [33982340, 33982517], [33984303, 33984835]]	[[33944752, 33944977], [33947267, 33947479], [33951658, 33951782], [33954465, 33954609], [33963795, 33964121], [33982340, 33982517], [33984303, 33984688]]
ENST00000342059	[[33944723, 33944977], [33947267, 33947479], [33951658, 33951782], [33954465, 33954609], [33963795, 33964121], [33984303, 33984780]]	[[33944752, 33944977], [33947267, 33947479], [33951658, 33951782], [33954465, 33954609], [33963795, 33964121], [33984303, 33984688]]
ENST00000382102	[[33945970, 33947479], [33951658, 33951782], [33954465, 33954609], [33963795, 33964121], [33982340, 33982517], [33984303, 33984746]]	[[33947252, 33947479], [33951658, 33951782], [33954465, 33954609], [33963795, 33964121], [33982340, 33982517], [33984303, 33984688]]
ENST00000510600	[[33947372, 33947479], [33951658, 33951782], [33954465, 33954609], [33963795, 33964121], [33984303, 33984342]]	[[33947372, 33947479], [33951658, 33951782], [33954465, 33954609], [33963795, 33964121], [33984303, 33984340]]
ENST00000509381	[[33951509, 33951782], [33954465, 33954609], [33982340, 33982517], [33984303, 33984749]]	[[33951756, 33951782], [33954465, 33954609], [33982340, 33982517], [33984303, 33984688]]
ENST00000345083	[[33951593, 33951782], [33954465, 33954609], [33972138, 33972140], [33982340, 33982517], [33984303, 33984780]]	[[33951593, 33951782], [33954465, 33954609], [33972138, 33972140], [33982340, 33982517], [33984303, 33984688]]
ENST00000505056	[[33963746, 33964121], [33984303, 33984667]]	None
NM_016180	[[33944720, 33944977], [33947267, 33947479], [33951658, 33951782], [33954465, 33954609], [33963795, 33964121], [33982340, 33982517], [33984303, 33984780]]	[[33944752, 33944977], [33947267, 33947479], [33951658, 33951782], [33954465, 33954609], [33963795, 33964121], [33982340, 33982517], [33984303, 33984688]]
NM_001012509	[[33945970, 33947479], [33951658, 33951782], [33954465, 33954609], [33963795, 33964121], [33982340, 33982517], [33984303, 33984780]]	[[33947252, 33947479], [33951658, 33951782], [33954465, 33954609], [33963795, 33964121], [33982340, 33982517], [33984303, 33984688]]
NM_001297417	[[33951509, 33951782], [33954465, 33954609], [33982340, 33982517], [33984303, 33984780]]	[[33951756, 33951782], [33954465, 33954609], [33982340, 33982517], [33984303, 33984688]]

Promoter

Chrom	Start	End	Description
chr5	33984741	33984774	CAGE_peak_1_at_SLC45A2_5end
chr5	33984786	33984820	CAGE_peak_2_at_SLC45A2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I033984	33984199	33985045	1.25	[{'connected_gene': 'SLC45A2', 'score': 550.77}, {'connected_gene': 'LOC643373', 'score': 11.74}, {'connected_gene': 'PSMC6P3', 'score': 0.39}]
chr5	GH05I034489	34489201	34490285	0.96	[{'connected_gene': 'SLC45A2', 'score': 9.04}, {'connected_gene': 'GC05P034404', 'score': 0.17}, {'connected_gene': 'LOC105374721', 'score': 0.15}]
chr5	GH05I034474	34474596	34476182	0.68	[{'connected_gene': 'SLC45A2', 'score': 11.65}, {'connected_gene': 'GC05P034404', 'score': 0.19}, {'connected_gene': 'LOC105374721', 'score': 0.14}]
chr5	GH05I034486	34486296	34488540	1.33	[{'connected_gene': 'SLC45A2', 'score': 8.65}, {'connected_gene': 'GC05P034404', 'score': 0.18}, {'connected_gene': 'LOC105374721', 'score': 0.15}]
chr5	GH05I034465	34465924	34467807	0.72	[{'connected_gene': 'SLC45A2', 'score': 11.07}, {'connected_gene': 'GC05P034404', 'score': 0.21}, {'connected_gene': 'LOC105374721', 'score': 0.13}]
chr5	GH05I034505	34504659	34505288	0.2	[{'connected_gene': 'SLC45A2', 'score': 4.7}, {'connected_gene': 'LOC105374721', 'score': 0.18}, {'connected_gene': 'GC05P034404', 'score': 0.15}]
chr5	GH05I034498	34498355	34500858	1.58	[{'connected_gene': 'RAI14', 'score': 10.55}, {'connected_gene': 'ENSG00000250234', 'score': 10.55}, {'connected_gene': 'SLC45A2', 'score': 5.22}, {'connected_gene': 'LOC105374721', 'score': 0.17}, {'connected_gene': 'GC05P034404', 'score': 0.16}]
chr5	GH05I034501	34501837	34503407	0.2	[{'connected_gene': 'RAI14', 'score': 10.36}, {'connected_gene': 'ENSG00000250234', 'score': 10.36}, {'connected_gene': 'SLC45A2', 'score': 4.94}, {'connected_gene': 'LOC105374721', 'score': 0.18}, {'connected_gene': 'GC05P034404', 'score': 0.15}]
chr5	GH05I034496	34496101	34497707	0.89	[{'connected_gene': 'RAI14', 'score': 10.55}, {'connected_gene': 'ENSG00000250234', 'score': 10.54}, {'connected_gene': 'SLC45A2', 'score': 5.44}, {'connected_gene': 'LOC105374721', 'score': 0.17}, {'connected_gene': 'GC05P034404', 'score': 0.16}]
chr5	GH05I034490	34490386	34492091	0.99	[{'connected_gene': 'ENSG00000250234', 'score': 10.54}, {'connected_gene': 'RAI14', 'score': 10.54}, {'connected_gene': 'SLC45A2', 'score': 6.32}, {'connected_gene': 'LOC646652', 'score': 4.67}, {'connected_gene': 'GC05P034404', 'score': 0.17}, {'connected_gene': 'LOC105374721', 'score': 0.16}]
chr5	GH05I033997	33997400	33997625	0.91	[{'connected_gene': 'ENSG00000250767', 'score': 550.77}, {'connected_gene': 'AMACR', 'score': 0.39}, {'connected_gene': 'SLC45A2', 'score': 0.39}, {'connected_gene': 'C1QTNF3-AMACR', 'score': 0.13}]