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
ENST00000361175	[[89419369, 89419765], [89468952, 89469070], [89472831, 89473067], [89473800, 89473939], [89474501, 89474620], [89474741, 89474855], [89475488, 89475600], [89487040, 89487246], [89500991, 89501127], [89503129, 89503398], [89504758, 89504988], [89505588, 89507462]]	[[89419738, 89419765], [89468952, 89469070], [89472831, 89473067], [89473800, 89473939], [89474501, 89474620], [89474741, 89474855], [89475488, 89475600], [89487040, 89487246], [89500991, 89501127], [89503129, 89503398], [89504758, 89504988], [89505588, 89505727]]
ENST00000456849	[[89419475, 89419765], [89468952, 89469070], [89472831, 89473067], [89473800, 89473939], [89474501, 89474620], [89474741, 89474855], [89475488, 89475600], [89481512, 89481527], [89487040, 89487246], [89500991, 89501127], [89503129, 89503398], [89504758, 89504988], [89505588, 89507460]]	[[89419738, 89419765], [89468952, 89469070], [89472831, 89473067], [89473800, 89473939], [89474501, 89474620], [89474741, 89474855], [89475488, 89475600], [89481512, 89481527], [89487040, 89487246], [89500991, 89501127], [89503129, 89503398], [89504758, 89504988], [89505588, 89505727]]
ENST00000465996	[[89420113, 89420162], [89468952, 89469070], [89472831, 89472939]]	None
ENST00000427144	[[89420707, 89420784], [89468952, 89469070], [89472831, 89473067], [89473800, 89473939], [89474501, 89474620], [89474741, 89474855], [89475488, 89475600], [89487040, 89487246], [89500991, 89501127], [89503129, 89503398], [89504758, 89504988], [89505588, 89505790]]	[[89420745, 89420784], [89468952, 89469070], [89472831, 89473067], [89473800, 89473939], [89474501, 89474620], [89474741, 89474855], [89475488, 89475600], [89487040, 89487246], [89500991, 89501127], [89503129, 89503398], [89504758, 89504988], [89505588, 89505727]]
ENST00000482258	[[89420740, 89420810], [89468952, 89469070], [89472831, 89473067]]	None
NM_004670	[[89419475, 89419765], [89468952, 89469070], [89472831, 89473067], [89473800, 89473939], [89474501, 89474620], [89474741, 89474855], [89475488, 89475600], [89487040, 89487246], [89500991, 89501127], [89503129, 89503398], [89504758, 89504988], [89505588, 89507462]]	[[89419738, 89419765], [89468952, 89469070], [89472831, 89473067], [89473800, 89473939], [89474501, 89474620], [89474741, 89474855], [89475488, 89475600], [89487040, 89487246], [89500991, 89501127], [89503129, 89503398], [89504758, 89504988], [89505588, 89505727]]
NM_001015880	[[89419475, 89419765], [89468952, 89469070], [89472831, 89473067], [89473800, 89473939], [89474501, 89474620], [89474741, 89474855], [89475488, 89475600], [89481512, 89481527], [89487040, 89487246], [89500991, 89501127], [89503129, 89503398], [89504758, 89504988], [89505588, 89507462]]	[[89419738, 89419765], [89468952, 89469070], [89472831, 89473067], [89473800, 89473939], [89474501, 89474620], [89474741, 89474855], [89475488, 89475600], [89481512, 89481527], [89487040, 89487246], [89500991, 89501127], [89503129, 89503398], [89504758, 89504988], [89505588, 89505727]]

Promoter

Chrom	Start	End	Description
chr10	89419595	89419643	CAGE_peak_1_at_PAPSS2_5end
chr10	89419667	89419678	CAGE_peak_2_at_PAPSS2_5end
chr10	89420706	89420712	CAGE_peak_5_at_PAPSS2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I087500	87500342	87501541	1.03	[{'connected_gene': 'MINPP1', 'score': 550.77}, {'connected_gene': 'PIR60830', 'score': 550.77}, {'connected_gene': 'PAPSS2', 'score': 4.73}]
chr10	GH10I087503	87503109	87508481	2.03	[{'connected_gene': 'MINPP1', 'score': 550.77}, {'connected_gene': 'MIR4678', 'score': 550.77}, {'connected_gene': 'PAPSS2', 'score': 4.73}, {'connected_gene': 'GC10P087578', 'score': 0.19}]
chr10	GH10I087545	87545714	87548622	1	[{'connected_gene': 'PAPSS2', 'score': 16.33}, {'connected_gene': 'ENSG00000196566', 'score': 11.71}, {'connected_gene': 'MINPP1', 'score': 8.06}, {'connected_gene': 'GC10P087578', 'score': 0.29}, {'connected_gene': 'MIR4678', 'score': 0.26}]
chr10	GH10I087550	87550622	87551240	0.2	[{'connected_gene': 'PAPSS2', 'score': 10.94}, {'connected_gene': 'ENSG00000196566', 'score': 10.94}, {'connected_gene': 'MINPP1', 'score': 7.86}, {'connected_gene': 'GC10P087578', 'score': 0.31}, {'connected_gene': 'MIR4678', 'score': 0.25}]
chr10	GH10I087558	87558651	87559936	0.2	[{'connected_gene': 'PAPSS2', 'score': 5.44}, {'connected_gene': 'MINPP1', 'score': 5.32}, {'connected_gene': 'GC10P087578', 'score': 0.37}, {'connected_gene': 'MIR4678', 'score': 0.22}]
chr10	GH10I087734	87734384	87735733	0.89	[{'connected_gene': 'PAPSS2', 'score': 12.6}, {'connected_gene': 'ENSG00000196566', 'score': 12.6}, {'connected_gene': 'ATAD1', 'score': 7.22}, {'connected_gene': 'RPL11P3', 'score': 5.95}, {'connected_gene': 'PIR53011', 'score': 0.77}, {'connected_gene': 'GC10P087721', 'score': 0.39}, {'connected_gene': 'GC10M087750', 'score': 0.37}]
chr10	GH10I087740	87740200	87741000	1.19	[{'connected_gene': 'PAPSS2', 'score': 11.75}, {'connected_gene': 'ENSG00000196566', 'score': 11.75}, {'connected_gene': 'ATAD1', 'score': 6.56}, {'connected_gene': 'PIR53011', 'score': 0.44}, {'connected_gene': 'GC10M087750', 'score': 0.39}]
chr10	GH10I088089	88089584	88089733	0.49	[{'connected_gene': 'PAPSS2', 'score': 4.78}, {'connected_gene': 'GC10P088093', 'score': 0.77}, {'connected_gene': 'LOC105378415', 'score': 0.39}, {'connected_gene': 'MED6P1', 'score': 0.28}]
chr10	GH10I087618	87618332	87619551	0.92	[{'connected_gene': 'PAPSS2', 'score': 22.92}, {'connected_gene': 'ENSG00000196566', 'score': 11.17}, {'connected_gene': 'ENSG00000225913', 'score': 5.68}, {'connected_gene': 'LOC105378412', 'score': 0.34}, {'connected_gene': 'RPS26P38', 'score': 0.34}]
chr10	GH10I087588	87588924	87591822	0.74	[{'connected_gene': 'PAPSS2', 'score': 6.38}, {'connected_gene': 'ENSG00000225913', 'score': 4.74}, {'connected_gene': 'LOC105378412', 'score': 0.44}, {'connected_gene': 'GC10P087578', 'score': 0.39}, {'connected_gene': 'ENSG00000223761', 'score': 0.37}]
chr10	GH10I087656	87656564	87663271	2.23	[{'connected_gene': 'PAPSS2', 'score': 559.12}, {'connected_gene': 'ENSG00000196566', 'score': 550.77}, {'connected_gene': 'GC10M087656', 'score': 550.77}, {'connected_gene': 'ENSG00000225913', 'score': 11.31}, {'connected_gene': 'LOC105378412', 'score': 0.21}]
chr10	GH10I087654	87654364	87654513	0.49	[{'connected_gene': 'PAPSS2', 'score': 0.44}, {'connected_gene': 'ENSG00000196566', 'score': 0.44}, {'connected_gene': 'GC10P087644', 'score': 0.39}, {'connected_gene': 'ENSG00000225913', 'score': 0.25}, {'connected_gene': 'LOC105378412', 'score': 0.22}]
chr10	GH10I087625	87625448	87626971	0.31	[{'connected_gene': 'PAPSS2', 'score': 21.9}, {'connected_gene': 'ENSG00000196566', 'score': 12.0}, {'connected_gene': 'RPS26P38', 'score': 0.37}, {'connected_gene': 'ENSG00000225913', 'score': 0.37}, {'connected_gene': 'LOC105378412', 'score': 0.31}]
chr10	GH10I087634	87634762	87636806	0.97	[{'connected_gene': 'PAPSS2', 'score': 21.0}, {'connected_gene': 'ENSG00000196566', 'score': 12.36}, {'connected_gene': 'ENSG00000225913', 'score': 5.8}, {'connected_gene': 'RPS26P38', 'score': 0.44}, {'connected_gene': 'LOC105378412', 'score': 0.28}]
chr10	GH10I087722	87722662	87724195	0.73	[{'connected_gene': 'PAPSS2', 'score': 49.45}, {'connected_gene': 'ENSG00000196566', 'score': 11.88}, {'connected_gene': 'GC10P087721', 'score': 0.77}, {'connected_gene': 'PIR53011', 'score': 0.44}]
chr10	GH10I087704	87704004	87704153	0.2	[{'connected_gene': 'PAPSS2', 'score': 11.67}, {'connected_gene': 'ENSG00000196566', 'score': 11.67}, {'connected_gene': 'GC10P087721', 'score': 0.37}]
chr10	GH10I087675	87675064	87675213	0.49	[{'connected_gene': 'PAPSS2', 'score': 0.37}, {'connected_gene': 'ENSG00000196566', 'score': 0.37}, {'connected_gene': 'GC10P087721', 'score': 0.25}]
chr10	GH10I087676	87675547	87676773	0.69	[{'connected_gene': 'PAPSS2', 'score': 7.64}, {'connected_gene': 'ENSG00000196566', 'score': 0.37}, {'connected_gene': 'GC10P087721', 'score': 0.25}]
chr10	GH10I087705	87705464	87705613	0.73	[{'connected_gene': 'PAPSS2', 'score': 11.65}, {'connected_gene': 'ENSG00000196566', 'score': 11.65}, {'connected_gene': 'GC10P087721', 'score': 0.37}]
chr10	GH10I087712	87712170	87714473	0.2	[{'connected_gene': 'PAPSS2', 'score': 43.3}, {'connected_gene': 'ENSG00000196566', 'score': 12.37}, {'connected_gene': 'GC10P087721', 'score': 0.44}]
chr10	GH10I087742	87742643	87743920	0.81	[{'connected_gene': 'ATAD1', 'score': 6.87}, {'connected_gene': 'GC10M087750', 'score': 0.44}, {'connected_gene': 'PIR53011', 'score': 0.39}, {'connected_gene': 'PAPSS2', 'score': 0.18}]
chr10	GH10I087746	87746681	87747562	0.31	[{'connected_gene': 'ATAD1', 'score': 6.85}, {'connected_gene': 'GC10M087750', 'score': 0.44}, {'connected_gene': 'PIR53011', 'score': 0.37}, {'connected_gene': 'PAPSS2', 'score': 0.17}]
chr10	GH10I087685	87685735	87686608	0.52	[{'connected_gene': 'FAM35A', 'score': 4.21}, {'connected_gene': 'PAPSS2', 'score': 0.31}, {'connected_gene': 'ENSG00000196566', 'score': 0.31}, {'connected_gene': 'GC10P087721', 'score': 0.28}]
chr10	GH10I087701	87701401	87702693	1.14	[{'connected_gene': 'ADIRF-AS1', 'score': 10.69}, {'connected_gene': 'FAM35A', 'score': 10.13}, {'connected_gene': 'GC10P087721', 'score': 0.37}, {'connected_gene': 'PAPSS2', 'score': 0.26}, {'connected_gene': 'ENSG00000196566', 'score': 0.26}]
chr10	GH10I087608	87608539	87609335	0.46	[{'connected_gene': 'ENSG00000225913', 'score': 550.77}, {'connected_gene': 'PAPSS2', 'score': 11.17}, {'connected_gene': 'ENSG00000196566', 'score': 11.17}, {'connected_gene': 'LOC105378412', 'score': 0.39}, {'connected_gene': 'RPS26P38', 'score': 0.29}]
chr10	GH10I087646	87646644	87646793	0.6	[{'connected_gene': 'ENSG00000225913', 'score': 7.02}, {'connected_gene': 'GC10P087644', 'score': 0.77}, {'connected_gene': 'PAPSS2', 'score': 0.39}, {'connected_gene': 'ENSG00000196566', 'score': 0.39}, {'connected_gene': 'LOC105378412', 'score': 0.23}]
chr10	GH10I087651	87651411	87652723	0.57	[{'connected_gene': 'ENSG00000225913', 'score': 7.08}, {'connected_gene': 'PAPSS2', 'score': 0.44}, {'connected_gene': 'ENSG00000196566', 'score': 0.44}, {'connected_gene': 'GC10P087644', 'score': 0.44}, {'connected_gene': 'LOC105378412', 'score': 0.22}]
chr10	GH10I087577	87577995	87580689	0.66	[{'connected_gene': 'GC10P087578', 'score': 550.77}, {'connected_gene': 'PAPSS2', 'score': 17.5}, {'connected_gene': 'ENSG00000196566', 'score': 10.71}, {'connected_gene': 'RPL11P3', 'score': 4.96}, {'connected_gene': 'LOC105378412', 'score': 0.37}]
chr10	GH10I087739	87739704	87739853	0.2	[{'connected_gene': 'ENSG00000196566', 'score': 11.75}, {'connected_gene': 'PAPSS2', 'score': 11.75}, {'connected_gene': 'PIR53011', 'score': 0.44}, {'connected_gene': 'GC10M087750', 'score': 0.39}]
chr10	GH10I087703	87703044	87703193	0.64	[{'connected_gene': 'GC10P087721', 'score': 0.37}, {'connected_gene': 'PAPSS2', 'score': 0.26}, {'connected_gene': 'ENSG00000196566', 'score': 0.26}]
chr10	GH10I087700	87700200	87700601	0.52	[{'connected_gene': 'GC10P087721', 'score': 0.34}, {'connected_gene': 'PAPSS2', 'score': 0.26}, {'connected_gene': 'ENSG00000196566', 'score': 0.26}]
chr10	GH10I087691	87691584	87691793	0.66	[{'connected_gene': 'GC10P087721', 'score': 0.31}, {'connected_gene': 'PAPSS2', 'score': 0.29}, {'connected_gene': 'ENSG00000196566', 'score': 0.29}]
chr10	GH10I087024	87024923	87026730	0.99	[{'connected_gene': 'ENSG00000271573', 'score': 550.77}, {'connected_gene': 'NUTM2D', 'score': 9.93}, {'connected_gene': 'PAPSS2', 'score': 4.41}, {'connected_gene': 'GLUD1', 'score': 4.38}, {'connected_gene': 'FAM25A', 'score': 0.44}, {'connected_gene': 'GC10P086949', 'score': 0.18}]
chr10	GH10I087640	87640357	87641481	0.38	[{'connected_gene': 'GC10P087644', 'score': 550.77}, {'connected_gene': 'RPS26P38', 'score': 550.77}, {'connected_gene': 'PAPSS2', 'score': 9.0}, {'connected_gene': 'SNCG', 'score': 5.77}, {'connected_gene': 'ENSG00000196566', 'score': 0.37}, {'connected_gene': 'ENSG00000225913', 'score': 0.29}, {'connected_gene': 'LOC105378412', 'score': 0.26}]