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
ENST00000295400	[[70674411, 70677998], [70680349, 70680459], [70683470, 70683620], [70692747, 70692868], [70741990, 70742044], [70780859, 70781147]]	[[70677990, 70677998], [70680349, 70680459], [70683470, 70683620], [70692747, 70692868], [70741990, 70742044], [70780859, 70780899]]
ENST00000445399	[[70676450, 70676753], [70678860, 70678892], [70680349, 70680459], [70683470, 70683620], [70692747, 70692865], [70741990, 70742044], [70780859, 70780904]]	[[70678878, 70678892], [70680349, 70680459], [70683470, 70683620], [70692747, 70692865], [70741990, 70742044], [70780859, 70780899]]
ENST00000418333	[[70677304, 70677998], [70680349, 70680459], [70683470, 70683620], [70692747, 70692865], [70741990, 70742044], [70780859, 70780958]]	[[70677990, 70677998], [70680349, 70680459], [70683470, 70683620], [70692747, 70692865], [70741990, 70742044], [70780859, 70780899]]
ENST00000450929	[[70677787, 70677998], [70680349, 70680459], [70683470, 70683620], [70692747, 70692865], [70741990, 70742044], [70780315, 70780622]]	[[70677990, 70677998], [70680349, 70680459], [70683470, 70683620], [70692747, 70692865], [70741990, 70742044], [70780315, 70780373]]
ENST00000444975	[[70677903, 70677998], [70680349, 70680459], [70683470, 70683620], [70692747, 70692868], [70741990, 70742044], [70780315, 70780770]]	[[70677990, 70677998], [70680349, 70680459], [70683470, 70683620], [70692747, 70692868], [70741990, 70742044], [70780315, 70780373]]
ENST00000394241	[[70683470, 70683620], [70692747, 70692865], [70741990, 70742044], [70780859, 70781105]]	[[70683470, 70683620], [70692747, 70692865], [70741990, 70742044], [70780859, 70780899]]
ENST00000460808	[[70683497, 70683620], [70688760, 70688833], [70692747, 70692868], [70741990, 70742044], [70780859, 70780958]]	None
ENST00000474101	[[70741990, 70742044], [70781232, 70781325]]	None
ENST00000419940	[[70676450, 70676753], [70680349, 70680459], [70683470, 70683620], [70692747, 70692865]]	[[70676736, 70676753], [70680349, 70680459], [70683470, 70683620], [70692747, 70692865]]
NM_001308158	[[70674411, 70677998], [70680349, 70680459], [70683470, 70683620], [70692747, 70692868], [70741990, 70742044], [70780315, 70780770]]	[[70677990, 70677998], [70680349, 70680459], [70683470, 70683620], [70692747, 70692868], [70741990, 70742044], [70780315, 70780373]]
NM_001308159	[[70674411, 70677998], [70680349, 70680459], [70683470, 70683620], [70692747, 70692865], [70741990, 70742044], [70780315, 70780770]]	[[70677990, 70677998], [70680349, 70680459], [70683470, 70683620], [70692747, 70692865], [70741990, 70742044], [70780315, 70780373]]
NM_003236	[[70674411, 70677998], [70680349, 70680459], [70683470, 70683620], [70692747, 70692868], [70741990, 70742044], [70780859, 70781147]]	[[70677990, 70677998], [70680349, 70680459], [70683470, 70683620], [70692747, 70692868], [70741990, 70742044], [70780859, 70780899]]
NM_001099691	[[70674411, 70677998], [70680349, 70680459], [70683470, 70683620], [70692747, 70692865], [70741990, 70742044], [70780859, 70781147]]	[[70677990, 70677998], [70680349, 70680459], [70683470, 70683620], [70692747, 70692865], [70741990, 70742044], [70780859, 70780899]]

Promoter

Chrom	Start	End	Description
chr2	70780545	70780558	CAGE_peak_4_at_TGFA_5end
chr2	70780572	70780583	CAGE_peak_6_at_TGFA_5end
chr2	70780951	70780966	CAGE_peak_1_at_TGFA_5end
chr2	70781087	70781098	CAGE_peak_2_at_TGFA_5end
chr2	70781308	70781337	CAGE_peak_3_at_TGFA_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I070328	70328549	70330648	0.95	[{'connected_gene': 'TGFA', 'score': 11.7}, {'connected_gene': 'FAM136A', 'score': 10.69}, {'connected_gene': 'PCYOX1', 'score': 10.09}, {'connected_gene': 'BRD7P6', 'score': 0.39}]
chr2	GH02I070362	70362302	70364156	0.43	[{'connected_gene': 'TGFA', 'score': 18.47}, {'connected_gene': 'FAM136A', 'score': 4.38}, {'connected_gene': 'BRD7P6', 'score': 0.34}, {'connected_gene': 'LOC105374793', 'score': 0.28}]
chr2	GH02I070594	70594030	70595377	0.31	[{'connected_gene': 'TGFA', 'score': 5.02}, {'connected_gene': 'FAM136A', 'score': 4.34}, {'connected_gene': 'GC02M070656', 'score': 0.21}]
chr2	GH02I070352	70352569	70353527	0.31	[{'connected_gene': 'TGFA', 'score': 4.59}, {'connected_gene': 'FIGLA', 'score': 4.43}, {'connected_gene': 'BRD7P6', 'score': 0.39}, {'connected_gene': 'LOC105374793', 'score': 0.25}]
chr2	GH02I070411	70411275	70413978	0.43	[{'connected_gene': 'TGFA', 'score': 18.36}, {'connected_gene': 'VAX2', 'score': 9.78}, {'connected_gene': 'GC02M070401', 'score': 0.44}, {'connected_gene': 'LOC105374793', 'score': 0.44}, {'connected_gene': 'TGFA-IT1', 'score': 0.2}]
chr2	GH02I070551	70551286	70555424	2.12	[{'connected_gene': 'TGFA', 'score': 559.23}, {'connected_gene': 'CLEC4F', 'score': 13.87}, {'connected_gene': 'TIA1', 'score': 13.57}, {'connected_gene': 'TEX261', 'score': 11.62}, {'connected_gene': 'PCBP1-AS1', 'score': 11.47}, {'connected_gene': 'CD207', 'score': 11.26}, {'connected_gene': 'VAX2', 'score': 9.69}, {'connected_gene': 'TGFA-IT1', 'score': 0.19}]
chr2	GH02I070513	70513542	70517495	1.19	[{'connected_gene': 'TGFA', 'score': 6.34}, {'connected_gene': 'ASPRV1', 'score': 5.1}, {'connected_gene': 'TGFA-IT1', 'score': 0.29}]
chr2	GH02I070626	70626201	70627260	0.58	[{'connected_gene': 'TGFA', 'score': 11.37}, {'connected_gene': 'ENSG00000235035', 'score': 11.22}, {'connected_gene': 'ADD2', 'score': 10.21}, {'connected_gene': 'ANXA4', 'score': 5.22}, {'connected_gene': 'GC02M070656', 'score': 0.29}]
chr2	GH02I070522	70522797	70526815	1.25	[{'connected_gene': 'TGFA', 'score': 11.43}, {'connected_gene': 'ADD2', 'score': 9.93}, {'connected_gene': 'ASPRV1', 'score': 5.19}, {'connected_gene': 'TGFA-IT1', 'score': 0.26}]
chr2	GH02I070370	70370675	70373028	0.8	[{'connected_gene': 'TGFA', 'score': 30.47}, {'connected_gene': 'ADD2', 'score': 10.32}, {'connected_gene': 'BRD7P6', 'score': 0.31}, {'connected_gene': 'LOC105374793', 'score': 0.29}]
chr2	GH02I070709	70709102	70710588	0.43	[{'connected_gene': 'TGFA', 'score': 10.85}, {'connected_gene': 'PIR38094', 'score': 0.37}, {'connected_gene': 'ADD2', 'score': 0.22}]
chr2	GH02I070627	70627629	70627717	0.54	[{'connected_gene': 'TGFA', 'score': 11.16}, {'connected_gene': 'ENSG00000235035', 'score': 11.1}, {'connected_gene': 'GC02M070656', 'score': 0.29}, {'connected_gene': 'ADD2', 'score': 0.11}]
chr2	GH02I070606	70606627	70607790	0.51	[{'connected_gene': 'TGFA', 'score': 11.29}, {'connected_gene': 'ADD2', 'score': 9.68}, {'connected_gene': 'GC02M070656', 'score': 0.23}]
chr2	GH02I070387	70386942	70389292	0.69	[{'connected_gene': 'TGFA', 'score': 12.71}, {'connected_gene': 'LOC105374793', 'score': 0.39}, {'connected_gene': 'BRD7P6', 'score': 0.25}]
chr2	GH02I070380	70380537	70383545	1.07	[{'connected_gene': 'TGFA', 'score': 21.01}, {'connected_gene': 'LOC105374793', 'score': 0.34}, {'connected_gene': 'BRD7P6', 'score': 0.28}]
chr2	GH02I070518	70518798	70521677	0.57	[{'connected_gene': 'TGFA', 'score': 17.65}, {'connected_gene': 'TGFA-IT1', 'score': 0.28}]
chr2	GH02I070531	70531801	70532200	0.72	[{'connected_gene': 'TGFA', 'score': 12.29}, {'connected_gene': 'TGFA-IT1', 'score': 0.23}]
chr2	GH02I070535	70535968	70537744	0.52	[{'connected_gene': 'TGFA', 'score': 6.07}, {'connected_gene': 'TGFA-IT1', 'score': 0.22}]
chr2	GH02I070511	70511473	70512621	0.46	[{'connected_gene': 'TGFA', 'score': 11.48}, {'connected_gene': 'TGFA-IT1', 'score': 0.29}]
chr2	GH02I070353	70353670	70355694	0.31	[{'connected_gene': 'TGFA', 'score': 18.34}, {'connected_gene': 'BRD7P6', 'score': 0.39}, {'connected_gene': 'LOC105374793', 'score': 0.25}]
chr2	GH02I070367	70367003	70368758	0.54	[{'connected_gene': 'TGFA', 'score': 7.93}, {'connected_gene': 'BRD7P6', 'score': 0.31}, {'connected_gene': 'LOC105374793', 'score': 0.28}]
chr2	GH02I070356	70356780	70358773	0.94	[{'connected_gene': 'TGFA', 'score': 17.35}, {'connected_gene': 'BRD7P6', 'score': 0.37}, {'connected_gene': 'LOC105374793', 'score': 0.25}]
chr2	GH02I070595	70595866	70597992	1.2	[{'connected_gene': 'TGFA', 'score': 5.0}, {'connected_gene': 'GC02M070656', 'score': 0.21}]
chr2	GH02I070565	70565549	70565698	0.69	[{'connected_gene': 'TGFA', 'score': 10.55}, {'connected_gene': 'GC02M070656', 'score': 0.16}]
chr2	GH02I070592	70592118	70594013	0.2	[{'connected_gene': 'TGFA', 'score': 11.66}, {'connected_gene': 'GC02M070656', 'score': 0.2}]
chr2	GH02I070556	70556989	70557993	1.02	[{'connected_gene': 'TGFA', 'score': 6.32}, {'connected_gene': 'GC02M070656', 'score': 0.15}]
chr2	GH02I070509	70509615	70510944	0.99	[{'connected_gene': 'CD207', 'score': 13.76}, {'connected_gene': 'TGFA', 'score': 11.48}, {'connected_gene': 'ASPRV1', 'score': 4.41}, {'connected_gene': 'FIGLA', 'score': 1.47}, {'connected_gene': 'TGFA-IT1', 'score': 0.31}]
chr2	GH02I070612	70612363	70613336	0.31	[{'connected_gene': 'PAIP2B', 'score': 4.79}, {'connected_gene': 'GC02M070656', 'score': 0.25}, {'connected_gene': 'TGFA', 'score': 0.22}, {'connected_gene': 'ADD2', 'score': 0.1}]
chr2	GH02I070615	70615418	70617005	0.95	[{'connected_gene': 'PAIP2B', 'score': 4.84}, {'connected_gene': 'GC02M070656', 'score': 0.26}, {'connected_gene': 'TGFA', 'score': 0.21}, {'connected_gene': 'ADD2', 'score': 0.1}]
chr2	GH02I070619	70619649	70620594	0.83	[{'connected_gene': 'ADD2', 'score': 11.56}, {'connected_gene': 'TGFA', 'score': 11.38}, {'connected_gene': 'FIGLA', 'score': 1.91}, {'connected_gene': 'GC02M070656', 'score': 0.28}]
chr2	GH02I070601	70601211	70604355	0.31	[{'connected_gene': 'ADD2', 'score': 13.89}, {'connected_gene': 'TGFA', 'score': 11.3}, {'connected_gene': 'ZNF638', 'score': 4.84}, {'connected_gene': 'GC02M070656', 'score': 0.22}]
chr2	GH02I070540	70540610	70542821	1	[{'connected_gene': 'ADD2', 'score': 9.41}, {'connected_gene': 'TGFA', 'score': 0.39}, {'connected_gene': 'TGFA-IT1', 'score': 0.21}]
chr2	GH02I070569	70569118	70571367	0.54	[{'connected_gene': 'ADD2', 'score': 10.04}, {'connected_gene': 'TGFA', 'score': 7.61}, {'connected_gene': 'GC02M070656', 'score': 0.17}]
chr2	GH02I070647	70647989	70648138	0.72	[{'connected_gene': 'ADD2', 'score': 10.84}, {'connected_gene': 'GC02M070656', 'score': 0.39}, {'connected_gene': 'TGFA', 'score': 0.16}]
chr2	GH02I070656	70656829	70656978	0.2	[{'connected_gene': 'GC02M070656', 'score': 550.77}, {'connected_gene': 'TGFA', 'score': 0.15}, {'connected_gene': 'ADD2', 'score': 0.14}]
chr2	GH02I070617	70617649	70617878	0.83	[{'connected_gene': 'GC02M070656', 'score': 0.26}, {'connected_gene': 'TGFA', 'score': 0.21}, {'connected_gene': 'ADD2', 'score': 0.1}]
chr2	GH02I070403	70403156	70404383	0.72	[{'connected_gene': 'GC02M070401', 'score': 550.77}, {'connected_gene': 'LOC105374793', 'score': 550.77}, {'connected_gene': 'TGFA', 'score': 14.63}]