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
ENST00000263087	[[3617921, 3618236], [3619981, 3620092], [3623600, 3623696], [3626581, 3626677], [3626981, 3627038], [3631212, 3631320], [3631398, 3631462], [3632771, 3632849], [3634397, 3634477], [3635661, 3635760], [3638110, 3638243], [3643098, 3643172], [3646782, 3646911], [3649057, 3649221], [3651215, 3651346], [3653645, 3653776], [3654943, 3655168], [3656583, 3656724], [3657076, 3657219], [3658410, 3658555], [3659123, 3659191], [3660277, 3660428], [3660999, 3661153], [3662695, 3662847], [3663465, 3663581], [3664306, 3664471], [3664696, 3664814], [3665208, 3665276], [3667162, 3667254], [3680833, 3680954], [3704404, 3704537]]	[[3618140, 3618236], [3619981, 3620092], [3623600, 3623696], [3626581, 3626677], [3626981, 3627038], [3631212, 3631320], [3631398, 3631462], [3632771, 3632849], [3634397, 3634477], [3635661, 3635760], [3638110, 3638243], [3643098, 3643172], [3646782, 3646911], [3649057, 3649221], [3651215, 3651346], [3653645, 3653776], [3654943, 3655168], [3656583, 3656724], [3657076, 3657219], [3658410, 3658555], [3659123, 3659191], [3660277, 3660428], [3660999, 3661153], [3662695, 3662847], [3663465, 3663581], [3664306, 3664471], [3664696, 3664814], [3665208, 3665276], [3667162, 3667254], [3680833, 3680954], [3704404, 3704438]]
ENST00000572179	[[3617921, 3618236], [3619981, 3620092], [3623600, 3623696], [3626981, 3627131]]	None
ENST00000572433	[[3617929, 3618236], [3619981, 3620092], [3623600, 3623913]]	None
ENST00000571937	[[3617946, 3618236], [3619981, 3621673]]	None
ENST00000570415	[[3617959, 3618236], [3619981, 3620092], [3623600, 3623696], [3626581, 3626677], [3626981, 3627038], [3631212, 3631320], [3631398, 3631768]]	None
ENST00000570360	[[3617985, 3618236], [3619981, 3620092], [3623600, 3623696], [3626581, 3626677], [3626981, 3627148]]	None
ENST00000571185	[[3627611, 3628038], [3631212, 3631320], [3631398, 3631462], [3634397, 3634477], [3635661, 3635760], [3638110, 3638243], [3642154, 3642247]]	None
ENST00000574026	[[3631307, 3631320], [3631398, 3631462], [3634397, 3634477], [3638110, 3638243], [3643098, 3643172], [3646782, 3646834]]	[[3631307, 3631320], [3631398, 3631462], [3634397, 3634477], [3638110, 3638243], [3643098, 3643172], [3646782, 3646834]]
ENST00000572121	[[3655163, 3655168], [3656583, 3656724], [3657076, 3657219], [3657925, 3657990]]	None
NM_002208	[[3617918, 3618236], [3619981, 3620092], [3623600, 3623696], [3626581, 3626677], [3626981, 3627038], [3631212, 3631320], [3631398, 3631462], [3632771, 3632849], [3634397, 3634477], [3635661, 3635760], [3638110, 3638243], [3643098, 3643172], [3646782, 3646911], [3649057, 3649221], [3651215, 3651346], [3653645, 3653776], [3654943, 3655168], [3656583, 3656724], [3657076, 3657219], [3658410, 3658555], [3659123, 3659191], [3660277, 3660428], [3660999, 3661153], [3662695, 3662847], [3663465, 3663581], [3664306, 3664471], [3664696, 3664814], [3665208, 3665276], [3667162, 3667254], [3680833, 3680954], [3704404, 3704537]]	[[3618140, 3618236], [3619981, 3620092], [3623600, 3623696], [3626581, 3626677], [3626981, 3627038], [3631212, 3631320], [3631398, 3631462], [3632771, 3632849], [3634397, 3634477], [3635661, 3635760], [3638110, 3638243], [3643098, 3643172], [3646782, 3646911], [3649057, 3649221], [3651215, 3651346], [3653645, 3653776], [3654943, 3655168], [3656583, 3656724], [3657076, 3657219], [3658410, 3658555], [3659123, 3659191], [3660277, 3660428], [3660999, 3661153], [3662695, 3662847], [3663465, 3663581], [3664306, 3664471], [3664696, 3664814], [3665208, 3665276], [3667162, 3667254], [3680833, 3680954], [3704404, 3704438]]

Promoter

Chrom	Start	End	Description
chr17	3627057	3627138	CAGE_peak_1_at_ITGAE_5end
chr17	3704456	3704468	CAGE_peak_3_at_ITGAE_5end
chr17	3704473	3704499	CAGE_peak_2_at_ITGAE_5end
chr17	3704500	3704519	CAGE_peak_4_at_ITGAE_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I003777	3777188	3778417	0.31	[{'connected_gene': 'HASPIN', 'score': 12.14}, {'connected_gene': 'NCBP3', 'score': 11.5}, {'connected_gene': 'TM4SF5', 'score': 5.75}, {'connected_gene': 'ITGAE', 'score': 0.34}, {'connected_gene': 'ENSG00000262358', 'score': 0.25}]
chr17	GH17I003791	3791400	3792200	1.18	[{'connected_gene': 'HASPIN', 'score': 11.98}, {'connected_gene': 'NCBP3', 'score': 11.47}, {'connected_gene': 'EMC6', 'score': 11.22}, {'connected_gene': 'TAX1BP3', 'score': 11.22}, {'connected_gene': 'CTNS', 'score': 2.97}, {'connected_gene': 'ZZEF1', 'score': 2.4}, {'connected_gene': 'P2RX1', 'score': 1.35}, {'connected_gene': 'ITGAE', 'score': 0.44}, {'connected_gene': 'ENSG00000262358', 'score': 0.21}]
chr17	GH17I003773	3773600	3773801	0.43	[{'connected_gene': 'HASPIN', 'score': 12.15}, {'connected_gene': 'NCBP3', 'score': 11.48}, {'connected_gene': 'ITGAE', 'score': 0.31}, {'connected_gene': 'ENSG00000262358', 'score': 0.26}]
chr17	GH17I003780	3780843	3781532	0.2	[{'connected_gene': 'HASPIN', 'score': 12.25}, {'connected_gene': 'NCBP3', 'score': 12.21}, {'connected_gene': 'ITGAE', 'score': 0.34}, {'connected_gene': 'ENSG00000262358', 'score': 0.23}]
chr17	GH17I003788	3788307	3788456	0.31	[{'connected_gene': 'HASPIN', 'score': 12.24}, {'connected_gene': 'NCBP3', 'score': 12.23}, {'connected_gene': 'ITGAE', 'score': 0.39}, {'connected_gene': 'ENSG00000262358', 'score': 0.22}]
chr17	GH17I003759	3759169	3760497	0.52	[{'connected_gene': 'HASPIN', 'score': 12.77}, {'connected_gene': 'NCBP3', 'score': 11.77}, {'connected_gene': 'TAX1BP3', 'score': 11.43}, {'connected_gene': 'EMC6', 'score': 11.43}, {'connected_gene': 'P2RX5', 'score': 11.26}, {'connected_gene': 'ENSG00000262358', 'score': 0.29}, {'connected_gene': 'ITGAE', 'score': 0.26}]
chr17	GH17I003792	3792477	3793075	0.4	[{'connected_gene': 'HASPIN', 'score': 11.98}, {'connected_gene': 'NCBP3', 'score': 11.47}, {'connected_gene': 'TAX1BP3', 'score': 11.22}, {'connected_gene': 'EMC6', 'score': 11.22}, {'connected_gene': 'ITGAE', 'score': 0.44}, {'connected_gene': 'ENSG00000262358', 'score': 0.21}]
chr17	GH17I003789	3789718	3790357	0.2	[{'connected_gene': 'HASPIN', 'score': 12.24}, {'connected_gene': 'NCBP3', 'score': 12.23}, {'connected_gene': 'TAX1BP3', 'score': 11.22}, {'connected_gene': 'EMC6', 'score': 11.22}, {'connected_gene': 'ITGAE', 'score': 0.39}, {'connected_gene': 'ENSG00000262358', 'score': 0.21}]
chr17	GH17I003790	3790401	3790800	0.4	[{'connected_gene': 'HASPIN', 'score': 11.98}, {'connected_gene': 'NCBP3', 'score': 11.46}, {'connected_gene': 'TAX1BP3', 'score': 11.22}, {'connected_gene': 'EMC6', 'score': 11.22}, {'connected_gene': 'ITGAE', 'score': 0.39}, {'connected_gene': 'ENSG00000262358', 'score': 0.21}]
chr17	GH17I003760	3760715	3761761	0.31	[{'connected_gene': 'HASPIN', 'score': 12.58}, {'connected_gene': 'NCBP3', 'score': 11.77}, {'connected_gene': 'TAX1BP3', 'score': 11.43}, {'connected_gene': 'EMC6', 'score': 11.43}, {'connected_gene': 'ENSG00000262358', 'score': 0.29}, {'connected_gene': 'ITGAE', 'score': 0.26}]
chr17	GH17I003750	3750530	3751779	1.25	[{'connected_gene': 'HASPIN', 'score': 12.8}, {'connected_gene': 'P2RX5', 'score': 11.26}, {'connected_gene': 'NCBP3', 'score': 11.19}, {'connected_gene': 'OR1E2', 'score': 4.09}, {'connected_gene': 'OR3A2', 'score': 2.78}, {'connected_gene': 'ATP2A3', 'score': 1.35}, {'connected_gene': 'ENSG00000262358', 'score': 0.34}, {'connected_gene': 'ITGAE', 'score': 0.23}]
chr17	GH17I003751	3751919	3752546	0.54	[{'connected_gene': 'HASPIN', 'score': 12.8}, {'connected_gene': 'P2RX5', 'score': 11.25}, {'connected_gene': 'NCBP3', 'score': 11.19}, {'connected_gene': 'ENSG00000262358', 'score': 0.34}, {'connected_gene': 'ITGAE', 'score': 0.25}]
chr17	GH17I003753	3753333	3754139	0.2	[{'connected_gene': 'HASPIN', 'score': 12.8}, {'connected_gene': 'P2RX5', 'score': 11.25}, {'connected_gene': 'NCBP3', 'score': 11.19}, {'connected_gene': 'ENSG00000262358', 'score': 0.34}, {'connected_gene': 'ITGAE', 'score': 0.25}]
chr17	GH17I003754	3754292	3756106	1.21	[{'connected_gene': 'HASPIN', 'score': 12.78}, {'connected_gene': 'P2RX5', 'score': 11.25}, {'connected_gene': 'NCBP3', 'score': 11.19}, {'connected_gene': 'ENSG00000262358', 'score': 0.31}, {'connected_gene': 'ITGAE', 'score': 0.25}]
chr17	GH17I003772	3772907	3773056	0.66	[{'connected_gene': 'HASPIN', 'score': 12.72}, {'connected_gene': 'ITGAE', 'score': 0.31}, {'connected_gene': 'ENSG00000262358', 'score': 0.26}]
chr17	GH17I003762	3762941	3767222	1.22	[{'connected_gene': 'HASPIN', 'score': 12.56}, {'connected_gene': 'ENSG00000262358', 'score': 0.28}, {'connected_gene': 'ITGAE', 'score': 0.28}]
chr17	GH17I003771	3771967	3772116	0.4	[{'connected_gene': 'HASPIN', 'score': 12.72}, {'connected_gene': 'ITGAE', 'score': 0.31}, {'connected_gene': 'ENSG00000262358', 'score': 0.26}]
chr17	GH17I003768	3768918	3769180	0.42	[{'connected_gene': 'HASPIN', 'score': 12.72}, {'connected_gene': 'ITGAE', 'score': 0.29}, {'connected_gene': 'ENSG00000262358', 'score': 0.28}]
chr17	GH17I003722	3722504	3725173	2.26	[{'connected_gene': 'HASPIN', 'score': 562.29}, {'connected_gene': 'PIR47216', 'score': 550.77}, {'connected_gene': 'PIR39862', 'score': 550.77}, {'connected_gene': 'ZZEF1', 'score': 15.92}, {'connected_gene': 'P2RX5', 'score': 5.39}, {'connected_gene': 'ENSG00000262692', 'score': 0.77}, {'connected_gene': 'ITGAE', 'score': 0.18}]
chr17	GH17I003769	3769923	3771486	1.15	[{'connected_gene': 'HASPIN', 'score': 12.72}, {'connected_gene': 'ZZEF1', 'score': 2.14}, {'connected_gene': 'ATP2A3', 'score': 1.92}, {'connected_gene': 'ITGAE', 'score': 0.29}, {'connected_gene': 'ENSG00000262358', 'score': 0.26}]
chr17	GH17I003798	3798002	3806070	2.16	[{'connected_gene': 'ITGAE', 'score': 550.77}, {'connected_gene': 'HASPIN', 'score': 11.95}, {'connected_gene': 'P2RX5', 'score': 11.53}, {'connected_gene': 'NCBP3', 'score': 5.11}, {'connected_gene': 'ZZEF1', 'score': 3.18}, {'connected_gene': 'CTNS', 'score': 2.55}, {'connected_gene': 'P2RX1', 'score': 1.72}, {'connected_gene': 'GC17M003807', 'score': 0.44}]
chr17	GH17I003737	3737307	3741562	1.54	[{'connected_gene': 'ITGAE', 'score': 1.94}, {'connected_gene': 'ATP2A3', 'score': 1.42}, {'connected_gene': 'ENSG00000262358', 'score': 0.39}]
chr17	GH17I003793	3793277	3793987	0.2	[{'connected_gene': 'ITGAE', 'score': 0.44}, {'connected_gene': 'ENSG00000262358', 'score': 0.21}]
chr17	GH17I003747	3747585	3749358	0.63	[{'connected_gene': 'TAX1BP3', 'score': 4.86}, {'connected_gene': 'ENSG00000262358', 'score': 0.37}, {'connected_gene': 'ITGAE', 'score': 0.23}]
chr17	GH17I003794	3794257	3797136	1.62	[{'connected_gene': 'ZZEF1', 'score': 4.51}, {'connected_gene': 'ATP2A3', 'score': 2.74}, {'connected_gene': 'ITGAE', 'score': 0.44}, {'connected_gene': 'ENSG00000262358', 'score': 0.2}]
chr17	GH17I003719	3719292	3721761	0.89	[{'connected_gene': 'ENSG00000262692', 'score': 550.77}, {'connected_gene': 'HASPIN', 'score': 10.15}, {'connected_gene': 'P2RX5', 'score': 0.34}, {'connected_gene': 'P2RX5-TAX1BP3', 'score': 0.34}, {'connected_gene': 'ITGAE', 'score': 0.18}]
chr17	GH17I003732	3732201	3732600	0.93	[{'connected_gene': 'ENSG00000262358', 'score': 0.77}, {'connected_gene': 'ITGAE', 'score': 0.2}]
chr17	GH17I003745	3745616	3746283	0.2	[{'connected_gene': 'ENSG00000262358', 'score': 0.37}, {'connected_gene': 'ITGAE', 'score': 0.22}]
chr17	GH17I003742	3742679	3743813	0.2	[{'connected_gene': 'ENSG00000262358', 'score': 0.39}, {'connected_gene': 'ITGAE', 'score': 0.22}]
chr17	GH17I003727	3727167	3727316	0.52	[{'connected_gene': 'ENSG00000262358', 'score': 0.77}, {'connected_gene': 'PIR39862', 'score': 0.77}, {'connected_gene': 'ITGAE', 'score': 0.19}]
chr17	GH17I003743	3743879	3745233	0.43	[{'connected_gene': 'ENSG00000262358', 'score': 0.37}, {'connected_gene': 'ITGAE', 'score': 0.22}]
chr17	GH17I003730	3730602	3731329	0.49	[{'connected_gene': 'ENSG00000262358', 'score': 550.77}, {'connected_gene': 'CTNS', 'score': 5.39}, {'connected_gene': 'ITGAE', 'score': 0.19}]