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
ENST00000376862	[[24449834, 24450389], [24523655, 24524213], [24565491, 24565629], [24645981, 24647252]]	[[24523733, 24524213], [24565491, 24565629], [24645981, 24646140]]
ENST00000482637	[[24565537, 24565629], [24577464, 24577789]]	None
NM_024893	[[24449834, 24450389], [24523655, 24524213], [24565491, 24565629], [24645981, 24647253]]	[[24523733, 24524213], [24565491, 24565629], [24645981, 24646140]]
NM_001323606	[[24449834, 24450389], [24468398, 24469287], [24523655, 24524213], [24565491, 24565629], [24645981, 24647253]]	[[24523733, 24524213], [24565491, 24565629], [24645981, 24646140]]
NM_001323607	[[24450441, 24450561], [24523655, 24524213], [24565491, 24565629], [24645981, 24647253]]	[[24523733, 24524213], [24565491, 24565629], [24645981, 24646140]]

Promoter

Chrom	Start	End	Description
chr20	24449821	24449843	CAGE_peak_4_at_SYNDIG1_5end
chr20	24449887	24449898	CAGE_peak_8_at_SYNDIG1_5end
chr20	24449953	24450011	CAGE_peak_2_at_SYNDIG1_5end
chr20	24450118	24450148	CAGE_peak_3_at_SYNDIG1_5end
chr20	24450259	24450346	CAGE_peak_1_at_SYNDIG1_5end
chr20	24450356	24450367	CAGE_peak_5_at_SYNDIG1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr20	GH20I024507	24507577	24508096	0.4	[{'connected_gene': 'CST7', 'score': 5.15}, {'connected_gene': 'ENSG00000270001', 'score': 5.13}, {'connected_gene': 'ENSG00000228539', 'score': 0.44}, {'connected_gene': 'SYNDIG1', 'score': 0.28}, {'connected_gene': 'GC20M024591', 'score': 0.16}]
chr20	GH20I024470	24470565	24470576	0.69	[{'connected_gene': 'SYNDIG1', 'score': 550.77}, {'connected_gene': 'GC20M024469', 'score': 550.77}, {'connected_gene': 'LOC105372585', 'score': 0.44}]
chr20	GH20I024473	24471599	24471717	0.44	[{'connected_gene': 'SYNDIG1', 'score': 4.54}, {'connected_gene': 'LOC105372585', 'score': 0.77}]
chr20	GH20I024468	24468867	24470314	1.93	[{'connected_gene': 'SYNDIG1', 'score': 550.77}, {'connected_gene': 'GC20M024469', 'score': 550.77}, {'connected_gene': 'LOC105372585', 'score': 0.44}]
chr20	GH20I024471	24471044	24471248	0.63	[{'connected_gene': 'SYNDIG1', 'score': 556.92}, {'connected_gene': 'LOC105372585', 'score': 0.77}]
chr20	GH20I024436	24436710	24438459	0.43	[{'connected_gene': 'SYNDIG1', 'score': 10.41}, {'connected_gene': 'GAPDHP53', 'score': 0.44}, {'connected_gene': 'LOC105372577', 'score': 0.13}]
chr20	GH20I024431	24431813	24432824	0.49	[{'connected_gene': 'SYNDIG1', 'score': 10.22}, {'connected_gene': 'GAPDHP53', 'score': 0.39}, {'connected_gene': 'LOC105372577', 'score': 0.14}]
chr20	GH20I024772	24772979	24774611	0.6	[{'connected_gene': 'SYNDIG1', 'score': 4.88}, {'connected_gene': 'ENSG00000231015', 'score': 0.16}, {'connected_gene': 'PIR56829', 'score': 0.11}]
chr20	GH20I024783	24783105	24783254	0.43	[{'connected_gene': 'SYNDIG1', 'score': 4.7}, {'connected_gene': 'ENSG00000231015', 'score': 0.15}, {'connected_gene': 'PIR56829', 'score': 0.12}]
chr20	GH20I024746	24746365	24746534	0.75	[{'connected_gene': 'SYNDIG1', 'score': 5.22}, {'connected_gene': 'ENSG00000231015', 'score': 0.2}, {'connected_gene': 'PIR56829', 'score': 0.09}]
chr20	GH20I024623	24623250	24623379	0.22	[{'connected_gene': 'SYNDIG1', 'score': 7.61}, {'connected_gene': 'GC20M024591', 'score': 0.34}, {'connected_gene': 'ENSG00000231015', 'score': 0.22}]
chr20	GH20I024798	24798885	24799708	0.31	[{'connected_gene': 'SYNDIG1', 'score': 4.99}, {'connected_gene': 'ENSG00000231015', 'score': 0.13}, {'connected_gene': 'PIR56829', 'score': 0.13}]
chr20	GH20I024785	24784836	24786081	0.31	[{'connected_gene': 'SYNDIG1', 'score': 5.09}, {'connected_gene': 'ENSG00000231015', 'score': 0.14}, {'connected_gene': 'PIR56829', 'score': 0.12}]
chr20	GH20I024622	24622381	24622738	0.22	[{'connected_gene': 'SYNDIG1', 'score': 3.7}, {'connected_gene': 'GC20M024591', 'score': 0.37}, {'connected_gene': 'ENSG00000231015', 'score': 0.22}]
chr20	GH20I024472	24472158	24474431	0.38	[{'connected_gene': 'LOC105372585', 'score': 0.77}, {'connected_gene': 'SYNDIG1', 'score': 0.77}]
chr20	GH20I024476	24476491	24480395	0.31	[{'connected_gene': 'LOC105372585', 'score': 0.77}, {'connected_gene': 'SYNDIG1', 'score': 0.44}, {'connected_gene': 'ENSG00000228539', 'score': 0.34}]
chr20	GH20I024442	24442666	24444675	0.46	[{'connected_gene': 'GAPDHP53', 'score': 550.77}, {'connected_gene': 'SYNDIG1', 'score': 8.79}, {'connected_gene': 'LOC105372577', 'score': 0.13}]
chr20	GH20I024560	24560605	24561911	0.38	[{'connected_gene': 'GC20M024591', 'score': 0.26}, {'connected_gene': 'ENSG00000228539', 'score': 0.22}, {'connected_gene': 'SYNDIG1', 'score': 0.16}]
chr20	GH20I024501	24501814	24503985	1.17	[{'connected_gene': 'ENSG00000228539', 'score': 550.77}, {'connected_gene': 'SYNDIG1', 'score': 1.7}, {'connected_gene': 'GC20M024591', 'score': 0.15}]
chr20	GH20I024529	24529411	24529797	0.49	[{'connected_gene': 'ENSG00000228539', 'score': 0.31}, {'connected_gene': 'SYNDIG1', 'score': 0.21}, {'connected_gene': 'GC20M024591', 'score': 0.19}]
chr20	GH20I024662	24662562	24663784	0.31	[{'connected_gene': 'ENSG00000231015', 'score': 0.37}, {'connected_gene': 'GC20M024591', 'score': 0.21}, {'connected_gene': 'SYNDIG1', 'score': 0.08}]
chr20	GH20I024657	24657385	24657454	0.43	[{'connected_gene': 'ENSG00000231015', 'score': 0.34}, {'connected_gene': 'GC20M024591', 'score': 0.23}, {'connected_gene': 'SYNDIG1', 'score': 0.09}]
chr20	GH20I024629	24629785	24629934	0.59	[{'connected_gene': 'GC20M024591', 'score': 0.31}, {'connected_gene': 'ENSG00000231015', 'score': 0.25}, {'connected_gene': 'SYNDIG1', 'score': 0.1}]
chr20	GH20I024633	24633045	24633194	0.2	[{'connected_gene': 'GC20M024591', 'score': 0.29}, {'connected_gene': 'ENSG00000231015', 'score': 0.25}, {'connected_gene': 'SYNDIG1', 'score': 0.1}]
chr20	GH20I024627	24627915	24628260	0.22	[{'connected_gene': 'GC20M024591', 'score': 0.31}, {'connected_gene': 'ENSG00000231015', 'score': 0.23}, {'connected_gene': 'SYNDIG1', 'score': 0.1}]
chr20	GH20I024649	24649938	24652292	0.93	[{'connected_gene': 'ENSG00000231015', 'score': 0.31}, {'connected_gene': 'GC20M024591', 'score': 0.25}, {'connected_gene': 'SYNDIG1', 'score': 0.09}]
chr20	GH20I024610	24610505	24610634	0.52	[{'connected_gene': 'GC20M024591', 'score': 0.44}, {'connected_gene': 'ENSG00000231015', 'score': 0.2}, {'connected_gene': 'SYNDIG1', 'score': 0.11}]
chr20	GH20I024634	24634654	24635559	0.97	[{'connected_gene': 'GC20M024591', 'score': 0.29}, {'connected_gene': 'ENSG00000231015', 'score': 0.26}, {'connected_gene': 'SYNDIG1', 'score': 0.1}]
chr20	GH20I024565	24565230	24566298	0.31	[{'connected_gene': 'GC20M024591', 'score': 0.28}, {'connected_gene': 'ENSG00000228539', 'score': 0.21}, {'connected_gene': 'SYNDIG1', 'score': 0.15}]
chr20	GH20I024488	24488044	24490307	0.54	[{'connected_gene': 'ENSG00000228539', 'score': 0.39}, {'connected_gene': 'LOC105372585', 'score': 0.39}, {'connected_gene': 'SYNDIG1', 'score': 0.37}]
chr20	GH20I024497	24497945	24498094	0.89	[{'connected_gene': 'ENSG00000228539', 'score': 0.77}, {'connected_gene': 'LOC105372585', 'score': 0.34}, {'connected_gene': 'SYNDIG1', 'score': 0.31}]
chr20	GH20I024499	24499375	24500707	0.31	[{'connected_gene': 'ENSG00000228539', 'score': 0.77}, {'connected_gene': 'LOC105372585', 'score': 0.34}, {'connected_gene': 'SYNDIG1', 'score': 0.29}]
chr20	GH20I024492	24492084	24493054	0.77	[{'connected_gene': 'ENSG00000228539', 'score': 0.44}, {'connected_gene': 'LOC105372585', 'score': 0.37}, {'connected_gene': 'SYNDIG1', 'score': 0.34}]
chr20	GH20I024493	24493154	24494313	0.49	[{'connected_gene': 'ENSG00000228539', 'score': 0.44}, {'connected_gene': 'LOC105372585', 'score': 0.37}, {'connected_gene': 'SYNDIG1', 'score': 0.34}]
chr20	GH20I024494	24494359	24495723	0.43	[{'connected_gene': 'ENSG00000228539', 'score': 0.44}, {'connected_gene': 'LOC105372585', 'score': 0.37}, {'connected_gene': 'SYNDIG1', 'score': 0.31}]