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
ENST00000502942	[[69917080, 69917320], [69955189, 69955321], [69964257, 69964406], [69968524, 69968656], [69972892, 69972980], [69973820, 69973945]]	[[69964283, 69964406], [69968524, 69968656], [69972892, 69972980], [69973820, 69973945]]
ENST00000509763	[[69917193, 69917320], [69955189, 69955321], [69964257, 69964406], [69968524, 69968656], [69972892, 69972980], [69978174, 69978290]]	None
ENST00000305231	[[69962192, 69962959], [69964257, 69964406], [69968524, 69968656], [69972892, 69972980], [69973820, 69974040], [69978174, 69978705]]	[[69962238, 69962959], [69964257, 69964406], [69968524, 69968656], [69972892, 69972980], [69973820, 69974040], [69978174, 69978454]]
ENST00000508661	[[69962211, 69962959], [69964257, 69964406], [69968524, 69968656], [69972892, 69972980], [69978174, 69978690]]	[[69962238, 69962959], [69964257, 69964406], [69968524, 69968656], [69972892, 69972980], [69978174, 69978194]]
NM_001330719	[[69962191, 69962959], [69964257, 69964406], [69968524, 69968656], [69972892, 69972980], [69978174, 69978705]]	[[69962238, 69962959], [69964257, 69964406], [69968524, 69968656], [69972892, 69972980], [69978174, 69978194]]
NM_001074	[[69962191, 69962959], [69964257, 69964406], [69968524, 69968656], [69972892, 69972980], [69973820, 69974040], [69978174, 69978705]]	[[69962238, 69962959], [69964257, 69964406], [69968524, 69968656], [69972892, 69972980], [69973820, 69974040], [69978174, 69978454]]

Promoter

Chrom	Start	End	Description
chr4	69917078	69917101	CAGE_peak_5_at_UGT2B7_5end
chr4	69917141	69917154	CAGE_peak_6_at_UGT2B7_5end
chr4	69917201	69917235	CAGE_peak_2_at_UGT2B7_5end
chr4	69962185	69962202	CAGE_peak_1_at_UGT2B7_5end
chr4	69962217	69962229	CAGE_peak_3_at_UGT2B7_5end
chr4	69962723	69962762	CAGE_peak_9_at_UGT2B7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I068946	68946809	68954612	1.9	[{'connected_gene': 'UGT2A3', 'score': 560.03}, {'connected_gene': 'LOC105377267', 'score': 12.98}, {'connected_gene': 'UGT2B7', 'score': 10.8}, {'connected_gene': 'UGT2B28', 'score': 10.35}, {'connected_gene': 'UGT2B11', 'score': 9.77}, {'connected_gene': 'UGT2B15', 'score': 1.77}, {'connected_gene': 'UGT2B10', 'score': 1.49}, {'connected_gene': 'LOC101927264', 'score': 0.31}]
chr4	GH04I069025	69025297	69025992	0.68	[{'connected_gene': 'UGT2B7', 'score': 9.93}, {'connected_gene': 'UGT2B26P', 'score': 0.77}, {'connected_gene': 'LOC100422020', 'score': 0.77}]
chr4	GH04I069095	69095046	69098877	1.62	[{'connected_gene': 'UGT2B7', 'score': 563.71}, {'connected_gene': 'UGT2B28', 'score': 12.67}, {'connected_gene': 'LOC105377267', 'score': 11.16}, {'connected_gene': 'UGT2A3', 'score': 5.3}, {'connected_gene': 'PIR54134', 'score': 0.37}, {'connected_gene': 'ENSG00000248763', 'score': 0.29}]
chr4	GH04I069051	69051240	69051891	0.57	[{'connected_gene': 'UGT2B7', 'score': 578.02}, {'connected_gene': 'LOC105377265', 'score': 0.44}]
chr4	GH04I069115	69115611	69117489	0.56	[{'connected_gene': 'UGT2B7', 'score': 9.43}, {'connected_gene': 'PIR54134', 'score': 0.77}, {'connected_gene': 'LOC100127903', 'score': 0.44}]
chr4	GH04I069091	69091619	69092932	0.43	[{'connected_gene': 'UGT2B7', 'score': 12.38}, {'connected_gene': 'PIR54134', 'score': 0.34}, {'connected_gene': 'ENSG00000248763', 'score': 0.31}]
chr4	GH04I069179	69179943	69180087	0.78	[{'connected_gene': 'LOC642474', 'score': 550.77}, {'connected_gene': 'LOC105377267', 'score': 13.58}, {'connected_gene': 'UGT2B7', 'score': 9.61}, {'connected_gene': 'LOC101060162', 'score': 0.28}]
chr4	GH04I068962	68962923	68964176	0.43	[{'connected_gene': 'UGT2B28', 'score': 10.35}, {'connected_gene': 'UGT2B7', 'score': 8.53}, {'connected_gene': 'LOC105377267', 'score': 8.05}, {'connected_gene': 'UGT2A3', 'score': 0.39}, {'connected_gene': 'LOC100289568', 'score': 0.39}]
chr4	GH04I069104	69104658	69105727	0.38	[{'connected_gene': 'UGT2B28', 'score': 12.72}, {'connected_gene': 'UGT2B7', 'score': 9.13}, {'connected_gene': 'PIR54134', 'score': 0.44}, {'connected_gene': 'ENSG00000248763', 'score': 0.28}]
chr4	GH04I069308	69308522	69310172	0.66	[{'connected_gene': 'UGT2B11', 'score': 8.43}, {'connected_gene': 'UGT2B7', 'score': 8.05}, {'connected_gene': 'LOC100422022', 'score': 0.77}, {'connected_gene': 'PIR39330', 'score': 0.29}]
chr4	GH04I068960	68960172	68961870	0.43	[{'connected_gene': 'LOC105377267', 'score': 12.47}, {'connected_gene': 'UGT2B11', 'score': 8.36}, {'connected_gene': 'UGT2A3', 'score': 6.89}, {'connected_gene': 'UGT2B7', 'score': 6.61}, {'connected_gene': 'LOC100289568', 'score': 0.39}]
chr4	GH04I069053	69053329	69060781	1.07	[{'connected_gene': 'LOC105377265', 'score': 550.77}, {'connected_gene': 'UGT2B7', 'score': 27.71}, {'connected_gene': 'UGT2B28', 'score': 11.52}, {'connected_gene': 'LOC105377267', 'score': 11.52}, {'connected_gene': 'UGT2A3', 'score': 5.38}, {'connected_gene': 'CSN1S1', 'score': 4.41}, {'connected_gene': 'ENSG00000248763', 'score': 0.44}]
chr4	GH04I068743	68743421	68746343	0.63	[{'connected_gene': 'LOC100422026', 'score': 12.9}, {'connected_gene': 'UGT2B7', 'score': 7.96}, {'connected_gene': 'ENSG00000272626', 'score': 5.18}, {'connected_gene': 'GCOM2', 'score': 4.48}, {'connected_gene': 'UGT2A3', 'score': 4.43}, {'connected_gene': 'LOC728811', 'score': 0.29}]
chr4	GH04I068731	68731338	68737190	1.17	[{'connected_gene': 'LOC100422026', 'score': 12.8}, {'connected_gene': 'TMPRSS11E', 'score': 10.17}, {'connected_gene': 'UGT2A3', 'score': 6.0}, {'connected_gene': 'UGT2B7', 'score': 4.8}, {'connected_gene': 'ENSG00000272626', 'score': 4.39}, {'connected_gene': 'UGT2B10', 'score': 3.2}, {'connected_gene': 'UGT2B11', 'score': 1.78}, {'connected_gene': 'UGT2B15', 'score': 1.77}, {'connected_gene': 'LOC728811', 'score': 0.34}]
chr4	GH04I068747	68747445	68749870	0.63	[{'connected_gene': 'LOC100422026', 'score': 12.95}, {'connected_gene': 'UGT2B11', 'score': 7.99}, {'connected_gene': 'UGT2B7', 'score': 7.95}, {'connected_gene': 'ENSG00000272626', 'score': 4.22}, {'connected_gene': 'LOC728811', 'score': 0.28}]
chr4	GH04I068903	68903944	68911409	1.09	[{'connected_gene': 'ENSG00000272626', 'score': 556.94}, {'connected_gene': 'ENSG00000249985', 'score': 550.77}, {'connected_gene': 'UGT2A3', 'score': 7.0}, {'connected_gene': 'UGT2B28', 'score': 6.84}, {'connected_gene': 'UGT2B7', 'score': 6.08}]