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
ENST00000382951	[[21500978, 21502455], [21502814, 21502944]]	[[21501976, 21502447]]
NM_001012264	[[21500978, 21502455], [21502814, 21502944]]	[[21501976, 21502447]]

Promoter

Chrom	Start	End	Description
chr14	21502129	21502134	CAGE_peak_5_at_RNASE13_5end
chr14	21502902	21502916	CAGE_peak_1_at_RNASE13_5end
chr14	21502944	21502954	CAGE_peak_2_at_RNASE13_5end
chr14	21502962	21502967	CAGE_peak_3_at_RNASE13_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I021041	21041172	21043129	1.18	[{'connected_gene': 'RNASE7', 'score': 550.77}, {'connected_gene': 'RNASE13', 'score': 0.44}, {'connected_gene': 'NDRG2', 'score': 0.31}]
chr14	GH14I021037	21037898	21040708	1.01	[{'connected_gene': 'RNASE7', 'score': 5.95}, {'connected_gene': 'RNASE13', 'score': 0.77}, {'connected_gene': 'NDRG2', 'score': 0.29}]
chr14	GH14I021068	21068537	21073552	2.44	[{'connected_gene': 'ARHGEF40', 'score': 579.42}, {'connected_gene': 'NDRG2', 'score': 550.77}, {'connected_gene': 'TMEM253', 'score': 12.12}, {'connected_gene': 'ZNF219', 'score': 12.1}, {'connected_gene': 'RNASE7', 'score': 10.89}, {'connected_gene': 'TPPP2', 'score': 10.66}, {'connected_gene': 'RNASE13', 'score': 10.38}, {'connected_gene': 'ENSG00000255472', 'score': 10.38}, {'connected_gene': 'RNASE6', 'score': 2.28}, {'connected_gene': 'TOX4', 'score': 1.78}, {'connected_gene': 'HNRNPC', 'score': 1.69}, {'connected_gene': 'PIR44581', 'score': 0.34}]
chr14	GH14I020591	20591843	20591899	0.33	[{'connected_gene': 'RNASE12', 'score': 566.58}, {'connected_gene': 'OR4K17', 'score': 18.37}, {'connected_gene': 'OR6S1', 'score': 17.46}, {'connected_gene': 'OR11H6', 'score': 14.69}, {'connected_gene': 'OR4N5', 'score': 14.46}, {'connected_gene': 'OR11H4', 'score': 13.24}, {'connected_gene': 'RNASE8', 'score': 11.82}, {'connected_gene': 'EDDM3B', 'score': 7.57}, {'connected_gene': 'RNASE9', 'score': 7.49}, {'connected_gene': 'RNASE13', 'score': 7.24}, {'connected_gene': 'EDDM3A', 'score': 5.77}, {'connected_gene': 'RNASE11', 'score': 4.72}, {'connected_gene': 'LOC254028', 'score': 0.77}, {'connected_gene': 'TRP-AGG2-5', 'score': 0.37}, {'connected_gene': 'ENSG00000259060', 'score': 0.37}]
chr14	GH14I021191	21191401	21192800	1.01	[{'connected_gene': 'OR5AU1', 'score': 10.84}, {'connected_gene': 'ZNF219', 'score': 10.39}, {'connected_gene': 'TMEM253', 'score': 10.38}, {'connected_gene': 'RNASE13', 'score': 9.9}, {'connected_gene': 'ENSG00000255472', 'score': 9.9}, {'connected_gene': 'TPPP2', 'score': 9.9}, {'connected_gene': 'LOC100129923', 'score': 0.44}, {'connected_gene': 'LINC00641', 'score': 0.39}]
chr14	GH14I020997	20997235	21000135	1.37	[{'connected_gene': 'SLC39A2', 'score': 565.85}, {'connected_gene': 'LOC101929718', 'score': 550.77}, {'connected_gene': 'TPPP2', 'score': 11.17}, {'connected_gene': 'ENSG00000255472', 'score': 10.85}, {'connected_gene': 'RNASE13', 'score': 10.84}, {'connected_gene': 'ZNF219', 'score': 10.62}, {'connected_gene': 'TMEM253', 'score': 10.59}, {'connected_gene': 'RNASE7', 'score': 10.29}, {'connected_gene': 'METTL17', 'score': 0.44}]
chr14	GH14I021034	21034781	21034840	0.5	[{'connected_gene': 'ENSG00000255472', 'score': 550.77}, {'connected_gene': 'RNASE13', 'score': 550.77}, {'connected_gene': 'RNASE7', 'score': 0.44}, {'connected_gene': 'TPPP2', 'score': 0.39}, {'connected_gene': 'NDRG2', 'score': 0.28}]
chr14	GH14I020705	20705851	20708411	0.77	[{'connected_gene': 'ENSG00000258451', 'score': 550.77}, {'connected_gene': 'EDDM3A', 'score': 11.7}, {'connected_gene': 'ANG', 'score': 11.32}, {'connected_gene': 'EDDM3B', 'score': 11.0}, {'connected_gene': 'RNASE1', 'score': 10.96}, {'connected_gene': 'METTL17', 'score': 10.95}, {'connected_gene': 'ZNF219', 'score': 9.79}, {'connected_gene': 'TPPP2', 'score': 9.59}, {'connected_gene': 'RNASE13', 'score': 9.59}, {'connected_gene': 'ENSG00000255472', 'score': 9.59}, {'connected_gene': 'RNA5SP382', 'score': 9.16}, {'connected_gene': 'TEP1', 'score': 9.16}, {'connected_gene': 'PIR39681', 'score': 0.39}, {'connected_gene': 'GC14M020723', 'score': 0.39}]