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
ENST00000329125	[[4835591, 4835660], [4835893, 4838325]]	[[4835899, 4837858]]
NM_000173	[[4835569, 4835660], [4835893, 4838325]]	[[4835899, 4837858]]

Promoter

Chrom	Start	End	Description
chr17	4835544	4835553	CAGE_peak_3_at_GP1BA_5end
chr17	4835555	4835578	CAGE_peak_1_at_GP1BA_5end
chr17	4835580	4835593	CAGE_peak_2_at_GP1BA_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I005044	5044086	5046420	0.62	[{'connected_gene': 'SPAG7', 'score': 36.15}, {'connected_gene': 'CAMTA2', 'score': 26.32}, {'connected_gene': 'ENO3', 'score': 25.71}, {'connected_gene': 'ENSG00000234203', 'score': 11.77}, {'connected_gene': 'KIF1C', 'score': 11.73}, {'connected_gene': 'INCA1', 'score': 11.73}, {'connected_gene': 'PFN1', 'score': 11.52}, {'connected_gene': 'ZFP3', 'score': 11.49}, {'connected_gene': 'USP6', 'score': 10.7}, {'connected_gene': 'GP1BA', 'score': 7.73}, {'connected_gene': 'SLC52A1', 'score': 7.44}, {'connected_gene': 'LOC105371501', 'score': 0.39}, {'connected_gene': 'LOC105371502', 'score': 0.39}, {'connected_gene': 'GC17P005013', 'score': 0.29}]
chr17	GH17I004934	4934001	4934800	0.96	[{'connected_gene': 'GP1BA', 'score': 0.77}, {'connected_gene': 'RNF167', 'score': 0.44}]
chr17	GH17I004932	4932063	4932411	1.19	[{'connected_gene': 'GP1BA', 'score': 550.77}, {'connected_gene': 'CHRNE', 'score': 0.31}]
chr17	GH17I004936	4936489	4936641	0.23	[{'connected_gene': 'ENO3', 'score': 9.51}, {'connected_gene': 'C17orf107', 'score': 1.8}, {'connected_gene': 'RNF167', 'score': 0.77}, {'connected_gene': 'GP1BA', 'score': 0.77}]
chr17	GH17I004852	4852000	4855270	1.31	[{'connected_gene': 'CHRNE', 'score': 39.16}, {'connected_gene': 'MINK1', 'score': 14.26}, {'connected_gene': 'PLD2', 'score': 12.92}, {'connected_gene': 'ZMYND15', 'score': 11.48}, {'connected_gene': 'CXCL16', 'score': 11.48}, {'connected_gene': 'SLC25A11', 'score': 10.77}, {'connected_gene': 'RNF167', 'score': 10.77}, {'connected_gene': 'SPAG7', 'score': 10.66}, {'connected_gene': 'ENO3', 'score': 10.27}, {'connected_gene': 'PFN1', 'score': 10.27}, {'connected_gene': 'CAMTA2', 'score': 10.06}, {'connected_gene': 'ZFP3', 'score': 9.92}, {'connected_gene': 'ENSG00000262165', 'score': 8.63}, {'connected_gene': 'C17orf107', 'score': 7.04}, {'connected_gene': 'GP1BA', 'score': 6.89}, {'connected_gene': 'ATP6V0CP1', 'score': 0.77}]
chr17	GH17I004919	4919437	4921063	0.95	[{'connected_gene': 'CHRNE', 'score': 34.48}, {'connected_gene': 'CAMTA2', 'score': 17.15}, {'connected_gene': 'ENO3', 'score': 11.03}, {'connected_gene': 'RNF167', 'score': 4.87}, {'connected_gene': 'GP1BA', 'score': 0.39}]
chr17	GH17I004908	4908030	4910589	1.43	[{'connected_gene': 'CHRNE', 'score': 34.5}, {'connected_gene': 'LOC101927979', 'score': 23.97}, {'connected_gene': 'ZNF232', 'score': 23.48}, {'connected_gene': 'ENSG00000263220', 'score': 20.29}, {'connected_gene': 'ZNF594', 'score': 16.1}, {'connected_gene': 'RPAIN', 'score': 15.56}, {'connected_gene': 'LOC100130950', 'score': 15.16}, {'connected_gene': 'ENO3', 'score': 14.51}, {'connected_gene': 'DHX33', 'score': 13.14}, {'connected_gene': 'MIS12', 'score': 12.29}, {'connected_gene': 'ENSG00000235085', 'score': 11.69}, {'connected_gene': 'ANKFY1', 'score': 11.09}, {'connected_gene': 'PELP1', 'score': 10.86}, {'connected_gene': 'ZZEF1', 'score': 10.62}, {'connected_gene': 'ENSG00000263272', 'score': 10.11}, {'connected_gene': 'ZFP3', 'score': 8.24}, {'connected_gene': 'C17orf107', 'score': 7.49}, {'connected_gene': 'ENSG00000262165', 'score': 6.96}, {'connected_gene': 'CAMTA2', 'score': 6.1}, {'connected_gene': 'KIF1C', 'score': 2.0}, {'connected_gene': 'SMTNL2', 'score': 1.67}, {'connected_gene': 'GP1BA', 'score': 0.34}]
chr17	GH17I004898	4898311	4904315	2.04	[{'connected_gene': 'CHRNE', 'score': 590.19}, {'connected_gene': 'C17orf107', 'score': 559.25}, {'connected_gene': 'GP1BA', 'score': 11.2}, {'connected_gene': 'ENSG00000262165', 'score': 7.07}, {'connected_gene': 'ZFP3', 'score': 6.35}, {'connected_gene': 'LOC101928000', 'score': 5.0}, {'connected_gene': 'GC17M004898', 'score': 0.77}, {'connected_gene': 'GC17M004900', 'score': 0.77}]
chr17	GH17I004913	4913974	4914369	0.6	[{'connected_gene': 'C17orf107', 'score': 8.2}, {'connected_gene': 'ENSG00000262165', 'score': 7.78}, {'connected_gene': 'CHRNE', 'score': 0.39}, {'connected_gene': 'GP1BA', 'score': 0.37}]
chr17	GH17I005254	5254532	5256335	1.07	[{'connected_gene': 'GC17P005253', 'score': 550.77}, {'connected_gene': 'LOC101928000', 'score': 12.22}, {'connected_gene': 'RABEP1', 'score': 12.2}, {'connected_gene': 'RPAIN', 'score': 10.59}, {'connected_gene': 'NUP88', 'score': 10.59}, {'connected_gene': 'SCIMP', 'score': 6.23}, {'connected_gene': 'GP1BA', 'score': 4.88}, {'connected_gene': 'NLRP1', 'score': 4.61}, {'connected_gene': 'GC17P005260', 'score': 0.44}]