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
ENST00000308666	[[39943834, 39947933], [39967517, 39967643], [39973336, 39973421], [39979953, 39980099], [39994372, 39994518], [39997713, 39997808], [39998563, 39998732], [40001400, 40001516], [40010789, 40010970], [40012478, 40013553]]	[[39947713, 39947933], [39967517, 39967643], [39973336, 39973421], [39979953, 39980099], [39994372, 39994518], [39997713, 39997808], [39998563, 39998732], [40001400, 40001516], [40010789, 40010970], [40012478, 40013417]]
NM_005164	[[39945021, 39947933], [39967517, 39967643], [39973336, 39973421], [39979953, 39980099], [39994372, 39994518], [39997713, 39997808], [39998563, 39998732], [40001400, 40001516], [40010789, 40010970], [40012478, 40013843]]	[[39947713, 39947933], [39967517, 39967643], [39973336, 39973421], [39979953, 39980099], [39994372, 39994518], [39997713, 39997808], [39998563, 39998732], [40001400, 40001516], [40010789, 40010970], [40012478, 40013417]]

Promoter

Chrom	Start	End	Description
chr12	40013582	40013635	CAGE_peak_1_at_ABCD2_5end
chr12	40013771	40013792	CAGE_peak_2_at_ABCD2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I039579	39579182	39584064	0.62	[{'connected_gene': 'KIF21A', 'score': 8.96}, {'connected_gene': 'ENSG00000270273', 'score': 0.26}, {'connected_gene': 'C12orf40', 'score': 0.26}, {'connected_gene': 'ABCD2', 'score': 0.2}, {'connected_gene': 'GC12P039462', 'score': 0.13}]
chr12	GH12I039595	39595080	39602331	0.75	[{'connected_gene': 'C12orf40', 'score': 11.43}, {'connected_gene': 'KIF21A', 'score': 4.48}, {'connected_gene': 'ABCD2', 'score': 0.23}, {'connected_gene': 'ENSG00000270273', 'score': 0.22}, {'connected_gene': 'GC12P039462', 'score': 0.12}]
chr12	GH12I039585	39585229	39590964	0.54	[{'connected_gene': 'C12orf40', 'score': 11.5}, {'connected_gene': 'KIF21A', 'score': 8.95}, {'connected_gene': 'ENSG00000270273', 'score': 0.25}, {'connected_gene': 'ABCD2', 'score': 0.21}, {'connected_gene': 'GC12P039462', 'score': 0.13}]
chr12	GH12I039626	39626136	39626195	1.07	[{'connected_gene': 'C12orf40', 'score': 550.77}, {'connected_gene': 'ABCD2', 'score': 0.31}, {'connected_gene': 'ENSG00000270273', 'score': 0.17}, {'connected_gene': 'GC12P039462', 'score': 0.1}]
chr12	GH12I039606	39606139	39606288	0.51	[{'connected_gene': 'C12orf40', 'score': 0.37}, {'connected_gene': 'ABCD2', 'score': 0.25}, {'connected_gene': 'ENSG00000270273', 'score': 0.2}, {'connected_gene': 'GC12P039462', 'score': 0.11}]
chr12	GH12I039605	39605599	39605748	0.69	[{'connected_gene': 'C12orf40', 'score': 0.34}, {'connected_gene': 'ABCD2', 'score': 0.25}, {'connected_gene': 'ENSG00000270273', 'score': 0.2}, {'connected_gene': 'GC12P039462', 'score': 0.11}]
chr12	GH12I039682	39682524	39683714	0.31	[{'connected_gene': 'C12orf40', 'score': 15.97}, {'connected_gene': 'PIR34151', 'score': 0.39}, {'connected_gene': 'ABCD2', 'score': 0.29}, {'connected_gene': 'GC12P039462', 'score': 0.07}]
chr12	GH12I039591	39591771	39593506	0.64	[{'connected_gene': 'C12orf40', 'score': 10.9}, {'connected_gene': 'ENSG00000270273', 'score': 0.23}, {'connected_gene': 'ABCD2', 'score': 0.22}, {'connected_gene': 'GC12P039462', 'score': 0.13}]
chr12	GH12I039617	39617565	39623116	2.29	[{'connected_gene': 'ABCD2', 'score': 550.29}, {'connected_gene': 'KIF21A', 'score': 5.46}, {'connected_gene': 'C12orf40', 'score': 0.44}, {'connected_gene': 'ENSG00000270273', 'score': 0.18}, {'connected_gene': 'GC12P039462', 'score': 0.1}]
chr12	GH12I039627	39627599	39629302	0.46	[{'connected_gene': 'LINC02406', 'score': 5.26}, {'connected_gene': 'LINC02555', 'score': 4.7}, {'connected_gene': 'C12orf40', 'score': 0.77}, {'connected_gene': 'ABCD2', 'score': 0.34}, {'connected_gene': 'GC12P039462', 'score': 0.1}]
chr12	GH12I039575	39575539	39575648	0.4	[{'connected_gene': 'ENSG00000270273', 'score': 0.28}, {'connected_gene': 'C12orf40', 'score': 0.23}, {'connected_gene': 'ABCD2', 'score': 0.18}, {'connected_gene': 'GC12P039462', 'score': 0.14}]