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
ENST00000231004	[[121398889, 121402444], [121405747, 121405863], [121406188, 121406284], [121409707, 121409864], [121411098, 121411236], [121412587, 121412696], [121413049, 121413980]]	[[121402437, 121402444], [121405747, 121405863], [121406188, 121406284], [121409707, 121409864], [121411098, 121411236], [121412587, 121412696], [121413049, 121413680]]
ENST00000513319	[[121401491, 121402444], [121405747, 121405863], [121406188, 121406284], [121409707, 121409864], [121411098, 121411236], [121412786, 121412869]]	None
ENST00000505593	[[121401638, 121402444], [121405747, 121405863], [121406188, 121406284], [121409707, 121409864], [121411098, 121411236], [121411712, 121411778]]	None
ENST00000503759	[[121401639, 121402444], [121405747, 121405863], [121406188, 121406284], [121409707, 121409864], [121411098, 121411236], [121412587, 121412918]]	None
ENST00000508067	[[121406214, 121406284], [121406385, 121406463], [121409707, 121409864], [121411098, 121411236], [121413049, 121413167]]	[[121411168, 121411236], [121413049, 121413167]]
NM_001317073	[[121398889, 121402444], [121405747, 121405863], [121406188, 121406284], [121409707, 121409864], [121411098, 121411236], [121412786, 121412869]]	[[121402437, 121402444], [121405747, 121405863], [121406188, 121406284], [121409707, 121409851]]
NM_001178102	[[121398889, 121402444], [121405747, 121405863], [121406188, 121406284], [121409707, 121409864], [121411098, 121411236], [121412587, 121412918]]	[[121402437, 121402444], [121405747, 121405863], [121406188, 121406284], [121409707, 121409864], [121411098, 121411236], [121412587, 121412637]]
NM_002317	[[121398889, 121402444], [121405747, 121405863], [121406188, 121406284], [121409707, 121409864], [121411098, 121411236], [121412587, 121412696], [121413049, 121414196]]	[[121402437, 121402444], [121405747, 121405863], [121406188, 121406284], [121409707, 121409864], [121411098, 121411236], [121412587, 121412696], [121413049, 121413680]]

Promoter

Chrom	Start	End	Description
chr5	121412666	121412683	CAGE_peak_9_at_LOX_5end
chr5	121412802	121412811	CAGE_peak_12_at_LOX_5end
chr5	121412820	121412842	CAGE_peak_6_at_LOX_5end
chr5	121412855	121412875	CAGE_peak_8_at_LOX_5end
chr5	121413171	121413182	CAGE_peak_5_at_LOX_5end
chr5	121413702	121413713	CAGE_peak_7_at_LOX_5end
chr5	121413944	121413965	CAGE_peak_1_at_LOX_5end
chr5	121413974	121413986	CAGE_peak_4_at_LOX_5end
chr5	121414004	121414025	CAGE_peak_3_at_LOX_5end
chr5	121414045	121414063	CAGE_peak_2_at_LOX_5end
chr5	121414152	121414179	CAGE_peak_10_at_LOX_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I122351	122351565	122351898	0.54	[{'connected_gene': 'SNX2', 'score': 12.76}, {'connected_gene': 'LOX', 'score': 11.17}, {'connected_gene': 'SRFBP1', 'score': 11.11}, {'connected_gene': 'ENSG00000249621', 'score': 0.31}, {'connected_gene': 'ENSG00000249916', 'score': 0.29}, {'connected_gene': 'SNCAIP', 'score': 0.26}]
chr5	GH05I122773	122773746	122777756	2.23	[{'connected_gene': 'SNX2', 'score': 585.32}, {'connected_gene': 'CEP120', 'score': 31.21}, {'connected_gene': 'CSNK1G3', 'score': 22.92}, {'connected_gene': 'SRFBP1', 'score': 21.05}, {'connected_gene': 'KRT8P33', 'score': 12.87}, {'connected_gene': 'LOX', 'score': 11.13}, {'connected_gene': 'ENSG00000260686', 'score': 10.75}, {'connected_gene': 'PRDM6', 'score': 9.17}, {'connected_gene': 'PPIC', 'score': 8.02}, {'connected_gene': 'RN7SL689P', 'score': 4.61}]
chr5	GH05I122143	122143771	122144974	0.51	[{'connected_gene': 'LOX', 'score': 9.88}, {'connected_gene': 'SRFBP1', 'score': 9.6}, {'connected_gene': 'ZNF474', 'score': 5.69}, {'connected_gene': 'LOC100505841', 'score': 0.39}, {'connected_gene': 'ENSG00000250803', 'score': 0.39}, {'connected_gene': 'ENSG00000247311', 'score': 0.39}]
chr5	GH05I122141	122141487	122143472	0.76	[{'connected_gene': 'LOX', 'score': 10.89}, {'connected_gene': 'SRFBP1', 'score': 9.6}, {'connected_gene': 'ZNF474', 'score': 4.61}, {'connected_gene': 'LOC100505841', 'score': 0.39}, {'connected_gene': 'ENSG00000250803', 'score': 0.39}, {'connected_gene': 'ENSG00000247311', 'score': 0.39}]
chr5	GH05I122111	122111431	122112155	0.88	[{'connected_gene': 'LOX', 'score': 10.97}, {'connected_gene': 'ENSG00000247311', 'score': 10.78}, {'connected_gene': 'ENSG00000249610', 'score': 10.42}, {'connected_gene': 'SRFBP1', 'score': 10.19}, {'connected_gene': 'ZNF474', 'score': 5.4}]
chr5	GH05I122180	122180099	122184485	1.37	[{'connected_gene': 'LOX', 'score': 11.94}, {'connected_gene': 'ENSG00000247311', 'score': 11.11}, {'connected_gene': 'ENSG00000249610', 'score': 11.1}, {'connected_gene': 'ENSG00000250803', 'score': 11.03}, {'connected_gene': 'SRFBP1', 'score': 9.77}, {'connected_gene': 'LOC100505841', 'score': 0.23}, {'connected_gene': 'PIR45845', 'score': 0.15}]
chr5	GH05I122075	122075477	122079525	2.17	[{'connected_gene': 'LOX', 'score': 555.78}, {'connected_gene': 'SRFBP1', 'score': 0.13}]
chr5	GH05I121979	121979801	121980200	0.49	[{'connected_gene': 'LOX', 'score': 11.55}, {'connected_gene': 'SRFBP1', 'score': 0.37}]
chr5	GH05I121967	121967201	121967800	0.43	[{'connected_gene': 'LOX', 'score': 11.29}, {'connected_gene': 'ENSG00000250803', 'score': 10.88}, {'connected_gene': 'ENSG00000247311', 'score': 10.87}, {'connected_gene': 'SRFBP1', 'score': 0.44}]
chr5	GH05I121968	121968309	121970739	0.97	[{'connected_gene': 'LOX', 'score': 11.3}, {'connected_gene': 'ENSG00000250803', 'score': 10.88}, {'connected_gene': 'ENSG00000247311', 'score': 10.87}, {'connected_gene': 'SRFBP1', 'score': 0.44}]
chr5	GH05I122173	122173107	122174315	0.77	[{'connected_gene': 'LOX', 'score': 6.49}, {'connected_gene': 'ENSG00000249610', 'score': 0.37}, {'connected_gene': 'LOC100505841', 'score': 0.26}, {'connected_gene': 'ENSG00000250803', 'score': 0.26}, {'connected_gene': 'PIR45845', 'score': 0.14}]
chr5	GH05I121961	121961005	121963826	2.11	[{'connected_gene': 'SRFBP1', 'score': 561.83}, {'connected_gene': 'LOX', 'score': 22.39}, {'connected_gene': 'SNX2', 'score': 12.74}, {'connected_gene': 'ENSG00000250803', 'score': 10.88}, {'connected_gene': 'ENSG00000247311', 'score': 10.87}, {'connected_gene': 'ZNF474', 'score': 10.14}]
chr5	GH05I122102	122102601	122103201	0.8	[{'connected_gene': 'SRFBP1', 'score': 11.33}, {'connected_gene': 'LOX', 'score': 11.21}, {'connected_gene': 'ENSG00000250803', 'score': 11.08}, {'connected_gene': 'ENSG00000247311', 'score': 11.0}, {'connected_gene': 'ZNF474', 'score': 0.31}]
chr5	GH05I122097	122097120	122098080	0.2	[{'connected_gene': 'SRFBP1', 'score': 11.34}, {'connected_gene': 'ENSG00000250803', 'score': 11.06}, {'connected_gene': 'ENSG00000247311', 'score': 10.99}, {'connected_gene': 'ENSG00000249610', 'score': 10.76}, {'connected_gene': 'LOX', 'score': 0.37}, {'connected_gene': 'ZNF474', 'score': 0.29}]
chr5	GH05I122089	122089093	122090584	1.21	[{'connected_gene': 'SRFBP1', 'score': 10.79}, {'connected_gene': 'ENSG00000250803', 'score': 10.34}, {'connected_gene': 'ENSG00000247311', 'score': 10.27}, {'connected_gene': 'ENSG00000249610', 'score': 10.23}, {'connected_gene': 'LOX', 'score': 0.39}, {'connected_gene': 'ZNF474', 'score': 0.28}]
chr5	GH05I122098	122098586	122099711	1.13	[{'connected_gene': 'SRFBP1', 'score': 11.34}, {'connected_gene': 'LOX', 'score': 11.21}, {'connected_gene': 'ZNF474', 'score': 0.29}]
chr5	GH05I122099	122099918	122100033	0.42	[{'connected_gene': 'SRFBP1', 'score': 11.34}, {'connected_gene': 'LOX', 'score': 11.21}, {'connected_gene': 'ZNF474', 'score': 0.31}]
chr5	GH05I121988	121988606	121988755	0.2	[{'connected_gene': 'SRFBP1', 'score': 11.45}, {'connected_gene': 'ENSG00000250803', 'score': 10.06}, {'connected_gene': 'ENSG00000247311', 'score': 10.05}, {'connected_gene': 'LOX', 'score': 0.17}]
chr5	GH05I122063	122063803	122065494	0.2	[{'connected_gene': 'SRFBP1', 'score': 10.21}, {'connected_gene': 'LOX', 'score': 0.39}]
chr5	GH05I122696	122696553	122697569	1.25	[{'connected_gene': 'CEP120', 'score': 99.76}, {'connected_gene': 'CSNK1G3', 'score': 58.15}, {'connected_gene': 'SNX2', 'score': 53.91}, {'connected_gene': 'ENSG00000260686', 'score': 41.7}, {'connected_gene': 'ZNF474', 'score': 39.63}, {'connected_gene': 'KRT8P33', 'score': 30.47}, {'connected_gene': 'SRFBP1', 'score': 21.97}, {'connected_gene': 'LOX', 'score': 21.21}, {'connected_gene': 'SNCAIP', 'score': 13.6}, {'connected_gene': 'RN7SL689P', 'score': 9.81}, {'connected_gene': 'PRDM6', 'score': 7.43}, {'connected_gene': 'ARGFXP1', 'score': 0.34}, {'connected_gene': 'GC05M122721', 'score': 0.31}, {'connected_gene': 'LINC02201', 'score': 0.29}]
chr5	GH05I122128	122128516	122130488	1.56	[{'connected_gene': 'ZNF474', 'score': 556.06}, {'connected_gene': 'LOC100505841', 'score': 550.77}, {'connected_gene': 'ENSG00000250803', 'score': 550.77}, {'connected_gene': 'ENSG00000247311', 'score': 0.31}, {'connected_gene': 'LOX', 'score': 0.23}]
chr5	GH05I122332	122332626	122334063	0.83	[{'connected_gene': 'ENSG00000260686', 'score': 17.73}, {'connected_gene': 'SNX2', 'score': 12.75}, {'connected_gene': 'LOX', 'score': 11.18}, {'connected_gene': 'SRFBP1', 'score': 11.11}, {'connected_gene': 'ENSG00000249621', 'score': 0.44}, {'connected_gene': 'SNCAIP', 'score': 0.34}, {'connected_gene': 'ENSG00000249916', 'score': 0.23}]
chr5	GH05I122081	122081156	122083027	0.2	[{'connected_gene': 'ENSG00000250803', 'score': 10.33}, {'connected_gene': 'ENSG00000247311', 'score': 10.27}, {'connected_gene': 'LOX', 'score': 6.9}, {'connected_gene': 'ZNF474', 'score': 0.25}]
chr5	GH05I122175	122175035	122176988	0.31	[{'connected_gene': 'ENSG00000247311', 'score': 11.63}, {'connected_gene': 'ENSG00000250803', 'score': 11.54}, {'connected_gene': 'SRFBP1', 'score': 8.95}, {'connected_gene': 'LOX', 'score': 6.87}, {'connected_gene': 'ENSG00000249610', 'score': 0.37}, {'connected_gene': 'LOC100505841', 'score': 0.25}, {'connected_gene': 'PIR45845', 'score': 0.14}]
chr5	GH05I122067	122067302	122067658	0.44	[{'connected_gene': 'ENSG00000250803', 'score': 10.08}, {'connected_gene': 'SRFBP1', 'score': 10.07}, {'connected_gene': 'ENSG00000247311', 'score': 10.04}, {'connected_gene': 'ENSG00000249610', 'score': 10.04}, {'connected_gene': 'LOX', 'score': 4.22}]
chr5	GH05I122121	122121511	122122929	0.76	[{'connected_gene': 'ENSG00000247311', 'score': 11.37}, {'connected_gene': 'ENSG00000249610', 'score': 11.34}, {'connected_gene': 'SRFBP1', 'score': 10.17}, {'connected_gene': 'ZNF474', 'score': 0.44}, {'connected_gene': 'LOX', 'score': 0.26}]
chr5	GH05I122125	122125413	122128037	1.28	[{'connected_gene': 'ENSG00000247311', 'score': 11.39}, {'connected_gene': 'ENSG00000249610', 'score': 11.36}, {'connected_gene': 'SRFBP1', 'score': 10.17}, {'connected_gene': 'ZNF474', 'score': 7.38}, {'connected_gene': 'LOX', 'score': 0.25}]
chr5	GH05I122091	122091820	122095366	1.04	[{'connected_gene': 'ENSG00000250803', 'score': 11.01}, {'connected_gene': 'ENSG00000247311', 'score': 10.94}, {'connected_gene': 'SRFBP1', 'score': 10.88}, {'connected_gene': 'ENSG00000249610', 'score': 10.75}, {'connected_gene': 'ZNF474', 'score': 4.67}, {'connected_gene': 'LOX', 'score': 0.37}]