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
ENST00000367569	[[144416017, 144416754]]	[[144416373, 144416634]]
NM_031287	[[144416017, 144416754]]	[[144416373, 144416634]]

Promoter

Chrom	Start	End	Description
chr6	144416694	144416718	CAGE_peak_1_at_SF3B5_5end
chr6	144416730	144416733	CAGE_peak_3_at_SF3B5_5end
chr6	144416737	144416766	CAGE_peak_2_at_SF3B5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I144263	144263067	144266898	1.58	[{'connected_gene': 'STX11', 'score': 11.14}, {'connected_gene': 'ENSG00000225311', 'score': 10.87}, {'connected_gene': 'PHACTR2', 'score': 9.52}, {'connected_gene': 'PLAGL1', 'score': 7.52}, {'connected_gene': 'SF3B5', 'score': 4.85}, {'connected_gene': 'ENSG00000216475', 'score': 0.44}, {'connected_gene': 'UTRN', 'score': 0.34}]
chr6	GH06I144066	144066959	144067600	0.86	[{'connected_gene': 'STX11', 'score': 10.49}, {'connected_gene': 'PLAGL1', 'score': 0.77}, {'connected_gene': 'SF3B5', 'score': 0.31}]
chr6	GH06I144105	144105004	144105173	0.72	[{'connected_gene': 'STX11', 'score': 12.2}, {'connected_gene': 'ENSG00000225311', 'score': 10.3}, {'connected_gene': 'LOC105378036', 'score': 0.44}, {'connected_gene': 'SF3B5', 'score': 0.44}]
chr6	GH06I144054	144054621	144056290	0.79	[{'connected_gene': 'SF3B5', 'score': 11.78}, {'connected_gene': 'LTV1', 'score': 10.22}, {'connected_gene': 'STX11', 'score': 10.09}, {'connected_gene': 'PHACTR2', 'score': 9.81}, {'connected_gene': 'PLAGL1', 'score': 8.08}, {'connected_gene': 'GC06P144049', 'score': 0.44}]
chr6	GH06I144329	144329475	144332414	1.1	[{'connected_gene': 'SF3B5', 'score': 4.47}, {'connected_gene': 'ENSG00000225311', 'score': 0.77}, {'connected_gene': 'GC06P144306', 'score': 0.34}, {'connected_gene': 'UTRN', 'score': 0.25}]
chr6	GH06I144123	144123564	144124470	1.06	[{'connected_gene': 'SF3B5', 'score': 11.72}, {'connected_gene': 'ENSG00000225311', 'score': 9.86}, {'connected_gene': 'PIR44650', 'score': 0.44}, {'connected_gene': 'MRPL42P3', 'score': 0.39}, {'connected_gene': 'LOC105378036', 'score': 0.39}]
chr6	GH06I144124	144123024	144123173	0.58	[{'connected_gene': 'SF3B5', 'score': 11.72}, {'connected_gene': 'ENSG00000225311', 'score': 9.86}, {'connected_gene': 'PIR44650', 'score': 0.77}, {'connected_gene': 'MRPL42P3', 'score': 0.39}, {'connected_gene': 'LOC105378036', 'score': 0.39}]
chr6	GH06I144094	144094087	144096677	2.12	[{'connected_gene': 'SF3B5', 'score': 550.77}, {'connected_gene': 'ADAT2', 'score': 10.35}, {'connected_gene': 'PLAGL1', 'score': 5.44}]
chr6	GH06I145044	145044245	145045177	0.31	[{'connected_gene': 'SF3B5', 'score': 4.43}, {'connected_gene': 'GC06P145183', 'score': 0.12}, {'connected_gene': 'GC06M144895', 'score': 0.11}]
chr6	GH06I144062	144062733	144065666	2.3	[{'connected_gene': 'PLAGL1', 'score': 567.41}, {'connected_gene': 'SF3B5', 'score': 13.23}, {'connected_gene': 'STX11', 'score': 10.63}, {'connected_gene': 'PHACTR2', 'score': 9.84}, {'connected_gene': 'GC06P144049', 'score': 0.39}]
chr6	GH06I144005	144005799	144009040	1.8	[{'connected_gene': 'PLAGL1', 'score': 554.28}, {'connected_gene': 'HYMAI', 'score': 550.77}, {'connected_gene': 'ENSG00000276680', 'score': 550.77}, {'connected_gene': 'SF3B5', 'score': 11.51}, {'connected_gene': 'PHACTR2', 'score': 10.67}, {'connected_gene': 'PHACTR2-AS1', 'score': 10.42}, {'connected_gene': 'GC06P143999', 'score': 0.44}]
chr6	GH06I144214	144214790	144217799	1.31	[{'connected_gene': 'TRL-TAA1-1', 'score': 550.77}, {'connected_gene': 'GC06P144217', 'score': 550.77}, {'connected_gene': 'ADAT2', 'score': 24.9}, {'connected_gene': 'ENSG00000270890', 'score': 21.09}, {'connected_gene': 'VDAC1P8', 'score': 12.77}, {'connected_gene': 'LTV1', 'score': 11.31}, {'connected_gene': 'SF3B5', 'score': 4.42}, {'connected_gene': 'TPT1P4', 'score': 0.37}]
chr6	GH06I144268	144268732	144269686	0.31	[{'connected_gene': 'ENSG00000225311', 'score': 11.76}, {'connected_gene': 'STX11', 'score': 10.26}, {'connected_gene': 'SF3B5', 'score': 4.97}, {'connected_gene': 'ENSG00000216475', 'score': 0.39}, {'connected_gene': 'UTRN', 'score': 0.37}]