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
ENST00000506401	[[48133331, 48133380], [48133801, 48134009], [48141440, 48141568], [48141891, 48141971], [48148207, 48148294], [48148674, 48148882], [48149349, 48149546], [48151279, 48151368], [48151507, 48151644], [48151811, 48151898], [48152822, 48153099], [48153689, 48153839], [48153947, 48154045], [48154337, 48154359]]	[[48133803, 48134009], [48141440, 48141568], [48141891, 48141971], [48148207, 48148222]]
ENST00000544892	[[48133338, 48133380], [48133801, 48134009], [48141440, 48141568], [48141891, 48141971], [48148207, 48148294], [48148674, 48148882], [48149349, 48149546], [48151279, 48151368], [48151507, 48151644], [48151811, 48151898], [48152822, 48153099], [48153689, 48153839], [48153947, 48154045], [48154337, 48154359]]	[[48148218, 48148294], [48148674, 48148882], [48149349, 48149546], [48151279, 48151368], [48151507, 48151644], [48151811, 48151898], [48152822, 48152913]]
ENST00000505306	[[48133431, 48134009], [48141440, 48141568], [48141891, 48141971], [48145419, 48145669], [48148207, 48148294], [48148674, 48148882], [48149349, 48149546], [48151279, 48151368], [48151507, 48151644], [48151811, 48151898], [48152822, 48152890], [48152962, 48153099], [48153689, 48153839], [48153947, 48154811], [48155409, 48155489], [48155570, 48155648], [48156187, 48156290], [48156439, 48156622], [48156798, 48156921], [48157625, 48157739], [48158673, 48158772], [48165107, 48165233], [48165588, 48165730], [48166473, 48167844]]	None
ENST00000320031	[[48133473, 48134009], [48141440, 48141568], [48141891, 48141971], [48145419, 48145669], [48148207, 48148294], [48148674, 48148882], [48149349, 48149546], [48151279, 48151368], [48151507, 48151644], [48151811, 48151898], [48152822, 48152890], [48152962, 48153099], [48153689, 48153839], [48153947, 48154045], [48154337, 48154485], [48154742, 48154811], [48155409, 48155489], [48155570, 48155648], [48156187, 48156290], [48156439, 48156622], [48156798, 48156921], [48157625, 48157739], [48158673, 48158772], [48165107, 48165233], [48165588, 48165730], [48166473, 48167844]]	[[48133803, 48134009], [48141440, 48141568], [48141891, 48141971], [48145419, 48145669], [48148207, 48148294], [48148674, 48148882], [48149349, 48149546], [48151279, 48151368], [48151507, 48151644], [48151811, 48151898], [48152822, 48152890], [48152962, 48153099], [48153689, 48153839], [48153947, 48154045], [48154337, 48154485], [48154742, 48154811], [48155409, 48155489], [48155570, 48155648], [48156187, 48156290], [48156439, 48156622], [48156798, 48156921], [48157625, 48157739], [48158673, 48158772], [48165107, 48165233], [48165588, 48165699]]
ENST00000007722	[[48133803, 48134009], [48141440, 48141568], [48141891, 48141971], [48145419, 48145669], [48148207, 48148294], [48148674, 48148882], [48149349, 48149546], [48151279, 48151368], [48151507, 48151644], [48151811, 48151898], [48152822, 48152890], [48152962, 48153099], [48153689, 48153839], [48153947, 48154045], [48154337, 48154485], [48154742, 48154811], [48155409, 48155489], [48155570, 48155648], [48156187, 48156290], [48156439, 48156622], [48156798, 48156921], [48157625, 48157739], [48158673, 48158772], [48165107, 48165233], [48166473, 48167093]]	[[48133803, 48134009], [48141440, 48141568], [48141891, 48141971], [48145419, 48145669], [48148207, 48148294], [48148674, 48148882], [48149349, 48149546], [48151279, 48151368], [48151507, 48151644], [48151811, 48151898], [48152822, 48152890], [48152962, 48153099], [48153689, 48153839], [48153947, 48154045], [48154337, 48154485], [48154742, 48154811], [48155409, 48155489], [48155570, 48155648], [48156187, 48156290], [48156439, 48156622], [48156798, 48156921], [48157625, 48157739], [48158673, 48158772], [48165107, 48165233], [48166473, 48166629]]
ENST00000508100	[[48133850, 48134009], [48141440, 48141568], [48141891, 48142153]]	None
ENST00000570989	[[48140901, 48143396]]	None
ENST00000512553	[[48148236, 48148294], [48151279, 48151368], [48151507, 48151644], [48151811, 48151878]]	[[48148236, 48148294], [48151279, 48151368], [48151507, 48151644], [48151811, 48151878]]
ENST00000505552	[[48149103, 48149546], [48151279, 48151368], [48151507, 48151575]]	None
ENST00000510809	[[48149523, 48149546], [48151279, 48151368], [48151507, 48151656], [48151811, 48151898], [48152822, 48152890], [48152962, 48153064]]	[[48149523, 48149546], [48151279, 48151368], [48151507, 48151648]]
ENST00000505612	[[48152823, 48153099], [48153689, 48153839], [48153947, 48154097]]	None
ENST00000506827	[[48153988, 48154045], [48154337, 48154485], [48154742, 48154811], [48155409, 48155489], [48155570, 48155648], [48156187, 48156290], [48167553, 48167845]]	[[48153988, 48154045], [48154337, 48154485], [48154742, 48154811], [48155409, 48155489], [48155570, 48155648], [48156187, 48156290], [48167553, 48167682]]
ENST00000507771	[[48154763, 48154811], [48155409, 48155489], [48155570, 48155648], [48156187, 48156380]]	None
ENST00000515147	[[48155367, 48155489], [48155570, 48155648], [48156187, 48156290], [48156439, 48156622], [48156798, 48156847]]	None
ENST00000504417	[[48157680, 48157739], [48158460, 48158557], [48158673, 48158744]]	[[48157680, 48157739], [48158460, 48158490]]
ENST00000506437	[[48163692, 48165233], [48165588, 48165730], [48166473, 48167845]]	None
ENST00000514834	[[48165576, 48165730], [48166473, 48167179]]	None
NM_002204	[[48133331, 48134009], [48141440, 48141568], [48141891, 48141971], [48145419, 48145669], [48148207, 48148294], [48148674, 48148882], [48149349, 48149546], [48151279, 48151368], [48151507, 48151644], [48151811, 48151898], [48152822, 48152890], [48152962, 48153099], [48153689, 48153839], [48153947, 48154045], [48154337, 48154485], [48154742, 48154811], [48155409, 48155489], [48155570, 48155648], [48156187, 48156290], [48156439, 48156622], [48156798, 48156921], [48157625, 48157739], [48158673, 48158772], [48165107, 48165233], [48165588, 48165730], [48166473, 48167849]]	[[48133803, 48134009], [48141440, 48141568], [48141891, 48141971], [48145419, 48145669], [48148207, 48148294], [48148674, 48148882], [48149349, 48149546], [48151279, 48151368], [48151507, 48151644], [48151811, 48151898], [48152822, 48152890], [48152962, 48153099], [48153689, 48153839], [48153947, 48154045], [48154337, 48154485], [48154742, 48154811], [48155409, 48155489], [48155570, 48155648], [48156187, 48156290], [48156439, 48156622], [48156798, 48156921], [48157625, 48157739], [48158673, 48158772], [48165107, 48165233], [48165588, 48165699]]

Promoter

Chrom	Start	End	Description
chr17	48133144	48133165	CAGE_peak_6_at_ITGA3_5end
chr17	48133330	48133349	CAGE_peak_2_at_ITGA3_5end
chr17	48133352	48133363	CAGE_peak_4_at_ITGA3_5end
chr17	48133424	48133443	CAGE_peak_3_at_ITGA3_5end
chr17	48133459	48133486	CAGE_peak_1_at_ITGA3_5end
chr17	48149430	48149463	CAGE_peak_5_at_ITGA3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I049758	49758761	49765137	2.68	[{'connected_gene': 'FAM117A', 'score': 572.26}, {'connected_gene': 'ENSG00000262837', 'score': 80.47}, {'connected_gene': 'UBE2Z', 'score': 71.41}, {'connected_gene': 'LUC7L3', 'score': 61.29}, {'connected_gene': 'FLJ45513', 'score': 21.53}, {'connected_gene': 'SPOP', 'score': 20.9}, {'connected_gene': 'COL1A1', 'score': 19.49}, {'connected_gene': 'TAC4', 'score': 18.71}, {'connected_gene': 'SLC35B1', 'score': 12.29}, {'connected_gene': 'ITGA3', 'score': 12.17}, {'connected_gene': 'ENSG00000230532', 'score': 11.84}, {'connected_gene': 'CACNA1G-AS1', 'score': 10.42}, {'connected_gene': 'SNF8', 'score': 10.13}, {'connected_gene': 'KAT7', 'score': 10.12}, {'connected_gene': 'PICART1', 'score': 9.77}, {'connected_gene': 'GC17P049768', 'score': 0.44}]
chr17	GH17I049787	49787301	49790132	2.11	[{'connected_gene': 'FAM117A', 'score': 563.7}, {'connected_gene': 'KAT7', 'score': 560.58}, {'connected_gene': 'ENSG00000262837', 'score': 36.3}, {'connected_gene': 'UBE2Z', 'score': 30.43}, {'connected_gene': 'LUC7L3', 'score': 21.39}, {'connected_gene': 'FLJ45513', 'score': 13.89}, {'connected_gene': 'ITGA3', 'score': 12.18}, {'connected_gene': 'TAC4', 'score': 11.38}, {'connected_gene': 'COL1A1', 'score': 11.1}, {'connected_gene': 'ENSG00000250751', 'score': 10.31}]
chr17	GH17I050107	50107515	50113926	1.26	[{'connected_gene': 'PDK2', 'score': 29.22}, {'connected_gene': 'SGCA', 'score': 11.1}, {'connected_gene': 'ENSG00000253730', 'score': 11.1}, {'connected_gene': 'HILS1', 'score': 11.06}, {'connected_gene': 'ENSG00000248172', 'score': 10.47}, {'connected_gene': 'DLX3', 'score': 10.47}, {'connected_gene': 'SAMD14', 'score': 10.02}, {'connected_gene': 'ACSF2', 'score': 9.14}, {'connected_gene': 'CHAD', 'score': 9.14}, {'connected_gene': 'PICART1', 'score': 5.28}, {'connected_gene': 'ITGA3', 'score': 4.72}, {'connected_gene': 'PIR47973', 'score': 0.77}, {'connected_gene': 'ENSG00000250282', 'score': 0.44}]
chr17	GH17I050093	50093857	50097261	2.25	[{'connected_gene': 'PDK2', 'score': 578.75}, {'connected_gene': 'ENSG00000276851', 'score': 550.77}, {'connected_gene': 'PICART1', 'score': 10.09}, {'connected_gene': 'KAT7', 'score': 9.87}, {'connected_gene': 'NXPH3', 'score': 9.76}, {'connected_gene': 'LOC105371824', 'score': 9.72}, {'connected_gene': 'ITGA3', 'score': 4.68}, {'connected_gene': 'ENSG00000275025', 'score': 0.77}]
chr17	GH17I050069	50069609	50070497	0.2	[{'connected_gene': 'PDK2', 'score': 11.73}, {'connected_gene': 'ENSG00000250282', 'score': 11.69}, {'connected_gene': 'ENSG00000248172', 'score': 11.02}, {'connected_gene': 'DLX3', 'score': 11.02}, {'connected_gene': 'PICART1', 'score': 4.78}, {'connected_gene': 'GC17P050063', 'score': 0.44}, {'connected_gene': 'ITGA3', 'score': 0.39}, {'connected_gene': 'ENSG00000276851', 'score': 0.34}]
chr17	GH17I050026	50026202	50029580	1.51	[{'connected_gene': 'ITGA3', 'score': 5.18}, {'connected_gene': 'LRRC59', 'score': 2.52}, {'connected_gene': 'XYLT2', 'score': 1.6}, {'connected_gene': 'PICART1', 'score': 0.31}, {'connected_gene': 'ENSG00000248172', 'score': 0.29}]
chr17	GH17I050046	50046266	50067562	2.73	[{'connected_gene': 'ITGA3', 'score': 571.77}, {'connected_gene': 'PICART1', 'score': 559.93}, {'connected_gene': 'ENSG00000262837', 'score': 43.18}, {'connected_gene': 'LUC7L3', 'score': 22.83}, {'connected_gene': 'FAM117A', 'score': 13.97}, {'connected_gene': 'FLJ45513', 'score': 12.87}, {'connected_gene': 'PDK2', 'score': 12.22}, {'connected_gene': 'ENSG00000250282', 'score': 11.64}, {'connected_gene': 'LOC105371824', 'score': 11.26}, {'connected_gene': 'COL1A1', 'score': 11.17}, {'connected_gene': 'ENSG00000248172', 'score': 11.03}, {'connected_gene': 'DLX3', 'score': 11.03}, {'connected_gene': 'EME1', 'score': 10.93}, {'connected_gene': 'SAMD14', 'score': 10.85}, {'connected_gene': 'TAC4', 'score': 10.56}, {'connected_gene': 'ENSG00000261959', 'score': 5.2}, {'connected_gene': 'EPN3', 'score': 3.75}, {'connected_gene': 'XYLT2', 'score': 1.3}, {'connected_gene': 'LRRC59', 'score': 1.28}, {'connected_gene': 'GC17P050063', 'score': 0.44}]
chr17	GH17I050079	50079399	50081839	1.09	[{'connected_gene': 'ENSG00000250282', 'score': 11.6}, {'connected_gene': 'SGCA', 'score': 10.71}, {'connected_gene': 'ENSG00000253730', 'score': 10.71}, {'connected_gene': 'HILS1', 'score': 10.69}, {'connected_gene': 'ENSG00000248172', 'score': 10.4}, {'connected_gene': 'DLX3', 'score': 10.39}, {'connected_gene': 'ITGA3', 'score': 7.03}, {'connected_gene': 'PICART1', 'score': 6.71}, {'connected_gene': 'ENSG00000276851', 'score': 0.39}, {'connected_gene': 'GC17P050063', 'score': 0.37}]
chr17	GH17I050087	50087357	50088151	0.99	[{'connected_gene': 'ENSG00000276851', 'score': 0.44}, {'connected_gene': 'GC17P050063', 'score': 0.34}, {'connected_gene': 'ITGA3', 'score': 0.29}]
chr17	GH17I050076	50076697	50076846	0.58	[{'connected_gene': 'ENSG00000250282', 'score': 11.1}, {'connected_gene': 'ENSG00000248172', 'score': 10.44}, {'connected_gene': 'DLX3', 'score': 10.43}, {'connected_gene': 'GC17P050063', 'score': 0.39}, {'connected_gene': 'ENSG00000276851', 'score': 0.37}, {'connected_gene': 'ITGA3', 'score': 0.34}]