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
ENST00000477592	[[3722847, 3723970], [3727784, 3727896], [3737312, 3737430], [3738295, 3738382], [3751509, 3751766]]	None
ENST00000380277	[[3722853, 3723970], [3727784, 3727896], [3737312, 3737430], [3738290, 3738382], [3739029, 3739128]]	[[3723852, 3723970], [3727784, 3727896], [3737312, 3737430], [3738290, 3738382], [3739029, 3739128]]
ENST00000380283	[[3722853, 3723970], [3727784, 3727896], [3737312, 3737430], [3738290, 3738382], [3751509, 3752260]]	[[3723852, 3723970], [3727784, 3727896], [3737312, 3737430], [3738290, 3738382], [3751509, 3751765]]
ENST00000485986	[[3739029, 3739203], [3739291, 3739395], [3751509, 3751763]]	None
NM_183373	[[3722835, 3723970], [3727784, 3727896], [3737312, 3737430], [3738290, 3738382], [3751509, 3752246]]	[[3723852, 3723970], [3727784, 3727896], [3737312, 3737430], [3738290, 3738382], [3751509, 3751765]]

Promoter

Chrom	Start	End	Description
chr6	3738322	3738334	CAGE_peak_14_at_PXDC1_5end
chr6	3751937	3751954	CAGE_peak_1_at_PXDC1_5end
chr6	3752050	3752056	CAGE_peak_8_at_PXDC1_5end
chr6	3752058	3752106	CAGE_peak_3_at_PXDC1_5end
chr6	3752127	3752138	CAGE_peak_11_at_PXDC1_5end
chr6	3752171	3752174	CAGE_peak_4_at_PXDC1_5end
chr6	3752222	3752255	CAGE_peak_2_at_PXDC1_5end
chr6	3752382	3752394	CAGE_peak_7_at_PXDC1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I003735	3735844	3741907	0.57	[{'connected_gene': 'PRPF4B', 'score': 16.2}, {'connected_gene': 'ENSG00000219992', 'score': 12.45}, {'connected_gene': 'LOC100507336', 'score': 11.58}, {'connected_gene': 'ENSG00000270504', 'score': 0.39}, {'connected_gene': 'PXDC1', 'score': 0.39}]
chr6	GH06I003388	3388639	3391647	1.57	[{'connected_gene': 'SERPINB6', 'score': 2.11}, {'connected_gene': 'SLC22A23', 'score': 1.66}, {'connected_gene': 'PXDC1', 'score': 1.21}, {'connected_gene': 'GC06M003358', 'score': 0.37}, {'connected_gene': 'GC06M003328', 'score': 0.21}]
chr6	GH06I003812	3812607	3813868	1.12	[{'connected_gene': 'FAM50B', 'score': 11.98}, {'connected_gene': 'PXDC1', 'score': 4.81}, {'connected_gene': 'GC06M003824', 'score': 0.39}, {'connected_gene': 'GC06P003775', 'score': 0.28}]
chr6	GH06I003795	3795530	3799618	1.53	[{'connected_gene': 'FAM50B', 'score': 11.28}, {'connected_gene': 'LOC107987516', 'score': 8.5}, {'connected_gene': 'PXDC1', 'score': 5.28}, {'connected_gene': 'GC06P003775', 'score': 0.34}, {'connected_gene': 'GC06M003824', 'score': 0.31}]
chr6	GH06I003745	3745548	3754321	2.65	[{'connected_gene': 'PXDC1', 'score': 556.7}, {'connected_gene': 'ENSG00000270504', 'score': 550.77}, {'connected_gene': 'PSMG4', 'score': 13.52}, {'connected_gene': 'ENSG00000219992', 'score': 13.17}, {'connected_gene': 'WRNIP1', 'score': 11.6}, {'connected_gene': 'ENSG00000272277', 'score': 10.19}, {'connected_gene': 'ENSG00000260604', 'score': 5.32}, {'connected_gene': 'LOC100507336', 'score': 4.67}, {'connected_gene': 'TUBB2BP1', 'score': 4.55}]
chr6	GH06I003787	3787491	3790795	0.94	[{'connected_gene': 'PXDC1', 'score': 4.75}, {'connected_gene': 'GC06P003775', 'score': 0.39}, {'connected_gene': 'GC06M003824', 'score': 0.28}]
chr6	GH06I003755	3755527	3758125	0.72	[{'connected_gene': 'PXDC1', 'score': 11.18}, {'connected_gene': 'ENSG00000219992', 'score': 10.72}, {'connected_gene': 'ENSG00000260604', 'score': 5.17}, {'connected_gene': 'GC06P003775', 'score': 0.37}]
chr6	GH06I003758	3758984	3760556	0.83	[{'connected_gene': 'PXDC1', 'score': 9.65}, {'connected_gene': 'ENSG00000219992', 'score': 7.05}, {'connected_gene': 'GC06P003775', 'score': 0.37}]
chr6	GH06I003760	3760686	3761234	0.2	[{'connected_gene': 'PXDC1', 'score': 12.27}, {'connected_gene': 'ENSG00000219992', 'score': 0.44}, {'connected_gene': 'GC06P003775', 'score': 0.39}]
chr6	GH06I003568	3568629	3569458	0.49	[{'connected_gene': 'PXDC1', 'score': 5.03}, {'connected_gene': 'GC06M003534', 'score': 0.77}, {'connected_gene': 'PIR56392', 'score': 0.23}]
chr6	GH06I003722	3722247	3725591	0.8	[{'connected_gene': 'LOC100507336', 'score': 15.66}, {'connected_gene': 'PXDC1', 'score': 12.74}, {'connected_gene': 'ENSG00000219992', 'score': 12.72}, {'connected_gene': 'FAM50B', 'score': 10.59}, {'connected_gene': 'ENSG00000270504', 'score': 0.31}]
chr6	GH06I003731	3731982	3733136	1.05	[{'connected_gene': 'LOC100507336', 'score': 7.83}, {'connected_gene': 'ENSG00000270504', 'score': 0.37}, {'connected_gene': 'PXDC1', 'score': 0.37}]
chr6	GH06I003742	3742007	3744737	1.35	[{'connected_gene': 'TUBB2BP1', 'score': 4.69}, {'connected_gene': 'ENSG00000270504', 'score': 0.44}, {'connected_gene': 'PXDC1', 'score': 0.44}, {'connected_gene': 'LOC100507336', 'score': 0.34}]
chr6	GH06I003986	3986427	3986433	0.39	[{'connected_gene': 'ENSG00000219992', 'score': 11.45}, {'connected_gene': 'PXDC1', 'score': 11.45}, {'connected_gene': 'PRPF4B', 'score': 1.76}, {'connected_gene': 'ENSG00000279926', 'score': 0.77}, {'connected_gene': 'GC06M003999', 'score': 0.39}]
chr6	GH06I003909	3909556	3914784	1.73	[{'connected_gene': 'ENSG00000260604', 'score': 575.49}, {'connected_gene': 'PXDC1', 'score': 6.2}, {'connected_gene': 'RPS25P7', 'score': 0.77}, {'connected_gene': 'GC06M003913', 'score': 0.77}]
chr6	GH06I003990	3990256	3992469	1.08	[{'connected_gene': 'ENSG00000219992', 'score': 11.92}, {'connected_gene': 'PXDC1', 'score': 11.92}, {'connected_gene': 'ENSG00000272248', 'score': 6.91}, {'connected_gene': 'ENSG00000230648', 'score': 5.24}, {'connected_gene': 'GC06M003999', 'score': 0.44}, {'connected_gene': 'ENSG00000279926', 'score': 0.44}]
chr6	GH06I003987	3987069	3987677	0.4	[{'connected_gene': 'ENSG00000219992', 'score': 11.45}, {'connected_gene': 'PXDC1', 'score': 11.45}, {'connected_gene': 'ENSG00000279926', 'score': 0.77}, {'connected_gene': 'GC06M003999', 'score': 0.39}]
chr6	GH06I003822	3822423	3827500	1.58	[{'connected_gene': 'GC06M003824', 'score': 550.77}, {'connected_gene': 'LOC107987516', 'score': 15.96}, {'connected_gene': 'FAM50B', 'score': 11.04}, {'connected_gene': 'PXDC1', 'score': 1.61}, {'connected_gene': 'GC06P003775', 'score': 0.23}]