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
ENST00000367602	[[180123968, 180124307], [180135625, 180135726], [180144455, 180144501], [180145065, 180145168], [180147928, 180148019], [180151308, 180151454], [180153050, 180153185], [180155187, 180155317], [180158686, 180158809], [180159567, 180159715], [180163347, 180163527], [180165396, 180173165]]	[[180124042, 180124307], [180135625, 180135726], [180144455, 180144501], [180145065, 180145168], [180147928, 180148019], [180151308, 180151454], [180153050, 180153185], [180155187, 180155317], [180158686, 180158809], [180159567, 180159715], [180163347, 180163527], [180165396, 180166172]]
ENST00000392029	[[180124004, 180124307], [180135625, 180135726], [180144455, 180144501], [180147928, 180148019], [180151308, 180151454], [180153050, 180153185], [180155187, 180155317], [180158686, 180158809]]	[[180124042, 180124307], [180135625, 180135726], [180144455, 180144501], [180147928, 180147984]]
ENST00000367600	[[180124031, 180124307], [180135625, 180135726], [180144455, 180144501], [180145065, 180145168], [180147928, 180148019], [180151308, 180151454], [180153050, 180153185], [180155187, 180155317], [180158686, 180158809], [180159567, 180159715], [180163347, 180163527], [180165396, 180165734], [180166467, 180167169]]	[[180124042, 180124307], [180135625, 180135726], [180144455, 180144501], [180145065, 180145168], [180147928, 180148019], [180151308, 180151454], [180153050, 180153185], [180155187, 180155317], [180158686, 180158809], [180159567, 180159715], [180163347, 180163527], [180165396, 180165734], [180166467, 180166476]]
ENST00000443059	[[180165816, 180166025], [180166467, 180167151]]	[[180165816, 180166025], [180166467, 180166476]]
NM_001004128	[[180123967, 180124307], [180135625, 180135726], [180144455, 180144501], [180145065, 180145168], [180147928, 180148019], [180151308, 180151454], [180153050, 180153185], [180155187, 180155317], [180158686, 180158809], [180159567, 180159715], [180163347, 180163527], [180165396, 180165734], [180166467, 180167169]]	[[180124042, 180124307], [180135625, 180135726], [180144455, 180144501], [180145065, 180145168], [180147928, 180148019], [180151308, 180151454], [180153050, 180153185], [180155187, 180155317], [180158686, 180158809], [180159567, 180159715], [180163347, 180163527], [180165396, 180165734], [180166467, 180166476]]
NM_002826	[[180123967, 180124307], [180135625, 180135726], [180144455, 180144501], [180145065, 180145168], [180147928, 180148019], [180151308, 180151454], [180153050, 180153185], [180155187, 180155317], [180158686, 180158809], [180159567, 180159715], [180163347, 180163527], [180165396, 180167169]]	[[180124042, 180124307], [180135625, 180135726], [180144455, 180144501], [180145065, 180145168], [180147928, 180148019], [180151308, 180151454], [180153050, 180153185], [180155187, 180155317], [180158686, 180158809], [180159567, 180159715], [180163347, 180163527], [180165396, 180166172]]

Promoter

Chrom	Start	End	Description
chr1	180123993	180124029	CAGE_peak_1_at_QSOX1_5end
chr1	180163376	180163387	CAGE_peak_5_at_QSOX1_5end
chr1	180165672	180165699	CAGE_peak_3_at_QSOX1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I179951	179951791	179957001	2.11	[{'connected_gene': 'CEP350', 'score': 560.87}, {'connected_gene': 'PIR45618', 'score': 550.77}, {'connected_gene': 'ENSG00000260360', 'score': 550.77}, {'connected_gene': 'LOC101928933', 'score': 550.77}, {'connected_gene': 'LHX4', 'score': 23.62}, {'connected_gene': 'QSOX1', 'score': 7.08}, {'connected_gene': 'ENSG00000261831', 'score': 5.66}]
chr1	GH01I180229	180229368	180230647	1.87	[{'connected_gene': 'LHX4', 'score': 558.85}, {'connected_gene': 'GC01P180228', 'score': 550.77}, {'connected_gene': 'QSOX1', 'score': 5.09}, {'connected_gene': 'GC01P180221', 'score': 0.44}, {'connected_gene': 'PIR35029', 'score': 0.25}]
chr1	GH01I180238	180238831	180240335	0.38	[{'connected_gene': 'LHX4', 'score': 6.49}, {'connected_gene': 'QSOX1', 'score': 5.67}, {'connected_gene': 'GC01P180228', 'score': 0.39}, {'connected_gene': 'GC01P180221', 'score': 0.37}, {'connected_gene': 'PIR35029', 'score': 0.28}]
chr1	GH01I180180	180180693	180184792	0.59	[{'connected_gene': 'QSOX1', 'score': 26.82}, {'connected_gene': 'LHX4', 'score': 11.4}, {'connected_gene': 'TOR1AIP1', 'score': 10.58}, {'connected_gene': 'TOR1AIP2', 'score': 10.58}, {'connected_gene': 'PIR48513', 'score': 0.77}, {'connected_gene': 'GC01P180178', 'score': 0.77}, {'connected_gene': 'FLJ23867', 'score': 0.37}]
chr1	GH01I180116	180116546	180118613	1.39	[{'connected_gene': 'QSOX1', 'score': 11.85}, {'connected_gene': 'ACBD6', 'score': 11.21}, {'connected_gene': 'TOR1AIP1', 'score': 10.04}, {'connected_gene': 'TOR1AIP2', 'score': 10.04}, {'connected_gene': 'ENSG00000261831', 'score': 8.04}, {'connected_gene': 'ENSG00000261817', 'score': 0.44}, {'connected_gene': 'RPS24P5', 'score': 0.13}]
chr1	GH01I180112	180112485	180113295	0.4	[{'connected_gene': 'QSOX1', 'score': 16.87}, {'connected_gene': 'TOR1AIP1', 'score': 10.04}, {'connected_gene': 'TOR1AIP2', 'score': 10.04}, {'connected_gene': 'ENSG00000261817', 'score': 0.39}, {'connected_gene': 'RPS24P5', 'score': 0.14}, {'connected_gene': 'CEP350', 'score': 0.1}]
chr1	GH01I180042	180042794	180044435	0.46	[{'connected_gene': 'QSOX1', 'score': 17.62}, {'connected_gene': 'TOR1AIP1', 'score': 10.28}, {'connected_gene': 'TOR1AIP2', 'score': 10.22}, {'connected_gene': 'RPS24P5', 'score': 0.26}, {'connected_gene': 'ENSG00000261817', 'score': 0.18}, {'connected_gene': 'CEP350', 'score': 0.17}]
chr1	GH01I180113	180113366	180113515	0.4	[{'connected_gene': 'QSOX1', 'score': 11.84}, {'connected_gene': 'TOR1AIP1', 'score': 10.04}, {'connected_gene': 'TOR1AIP2', 'score': 10.04}, {'connected_gene': 'ENSG00000261817', 'score': 0.39}, {'connected_gene': 'RPS24P5', 'score': 0.14}, {'connected_gene': 'CEP350', 'score': 0.1}]
chr1	GH01I180173	180173722	180174490	0.51	[{'connected_gene': 'QSOX1', 'score': 27.18}, {'connected_gene': 'TOR1AIP2', 'score': 10.65}, {'connected_gene': 'TOR1AIP1', 'score': 10.65}, {'connected_gene': 'GC01M180833', 'score': 0.77}, {'connected_gene': 'PIR57354', 'score': 0.44}]
chr1	GH01I180150	180150431	180159263	2.79	[{'connected_gene': 'QSOX1', 'score': 599.81}, {'connected_gene': 'LOC105371636', 'score': 550.77}, {'connected_gene': 'ACBD6', 'score': 11.3}, {'connected_gene': 'ENSG00000261831', 'score': 6.38}, {'connected_gene': 'AXDND1', 'score': 4.73}, {'connected_gene': 'ENSG00000260360', 'score': 4.24}, {'connected_gene': 'TOR1AIP1', 'score': 2.88}, {'connected_gene': 'CEP350', 'score': 2.02}, {'connected_gene': 'PIR57354', 'score': 0.39}, {'connected_gene': 'GC01M180833', 'score': 0.34}]
chr1	GH01I180093	180093877	180095440	0.46	[{'connected_gene': 'QSOX1', 'score': 18.11}, {'connected_gene': 'ENSG00000261817', 'score': 0.31}, {'connected_gene': 'RPS24P5', 'score': 0.16}, {'connected_gene': 'CEP350', 'score': 0.12}]
chr1	GH01I180095	180095469	180099456	0.87	[{'connected_gene': 'QSOX1', 'score': 16.29}, {'connected_gene': 'ENSG00000261831', 'score': 5.36}, {'connected_gene': 'ENSG00000261817', 'score': 0.31}, {'connected_gene': 'RPS24P5', 'score': 0.15}, {'connected_gene': 'CEP350', 'score': 0.11}]
chr1	GH01I180100	180100830	180102205	0.31	[{'connected_gene': 'QSOX1', 'score': 18.44}, {'connected_gene': 'ENSG00000261817', 'score': 0.34}, {'connected_gene': 'RPS24P5', 'score': 0.15}, {'connected_gene': 'CEP350', 'score': 0.11}]
chr1	GH01I180099	180099981	180100797	0.31	[{'connected_gene': 'QSOX1', 'score': 11.77}, {'connected_gene': 'ENSG00000261817', 'score': 0.34}, {'connected_gene': 'RPS24P5', 'score': 0.15}, {'connected_gene': 'CEP350', 'score': 0.11}]
chr1	GH01I180108	180108466	180109265	0.2	[{'connected_gene': 'QSOX1', 'score': 11.89}, {'connected_gene': 'ENSG00000261831', 'score': 5.06}, {'connected_gene': 'ENSG00000261817', 'score': 0.37}, {'connected_gene': 'RPS24P5', 'score': 0.14}, {'connected_gene': 'CEP350', 'score': 0.1}]
chr1	GH01I180039	180039573	180040622	0.31	[{'connected_gene': 'TOR1AIP1', 'score': 10.3}, {'connected_gene': 'TOR1AIP2', 'score': 10.19}, {'connected_gene': 'QSOX1', 'score': 4.38}, {'connected_gene': 'RPS24P5', 'score': 0.28}, {'connected_gene': 'ENSG00000261817', 'score': 0.18}, {'connected_gene': 'CEP350', 'score': 0.17}]
chr1	GH01I179969	179969001	179969800	0.38	[{'connected_gene': 'RPSAP16', 'score': 550.77}, {'connected_gene': 'ENSG00000261831', 'score': 8.94}, {'connected_gene': 'QSOX1', 'score': 4.2}, {'connected_gene': 'CEP350', 'score': 0.39}, {'connected_gene': 'RPS24P5', 'score': 0.29}]
chr1	GH01I180178	180178966	180179095	0.89	[{'connected_gene': 'PIR48513', 'score': 550.77}, {'connected_gene': 'GC01P180178', 'score': 550.77}, {'connected_gene': 'GC01M180833', 'score': 550.77}, {'connected_gene': 'QSOX1', 'score': 12.29}, {'connected_gene': 'TOR1AIP1', 'score': 10.58}, {'connected_gene': 'TOR1AIP2', 'score': 10.58}, {'connected_gene': 'FLJ23867', 'score': 0.37}]
chr1	GH01I180177	180177414	180178369	0.38	[{'connected_gene': 'PIR48513', 'score': 550.77}, {'connected_gene': 'GC01P180178', 'score': 550.77}, {'connected_gene': 'GC01M180833', 'score': 550.77}, {'connected_gene': 'QSOX1', 'score': 20.03}, {'connected_gene': 'TOR1AIP1', 'score': 10.58}, {'connected_gene': 'TOR1AIP2', 'score': 10.58}, {'connected_gene': 'PIR57354', 'score': 0.39}]
chr1	GH01I180130	180130601	180133060	1.11	[{'connected_gene': 'GC01P180130', 'score': 550.77}, {'connected_gene': 'ENSG00000261831', 'score': 8.01}, {'connected_gene': 'QSOX1', 'score': 5.72}, {'connected_gene': 'ENSG00000260360', 'score': 4.52}, {'connected_gene': 'LOC105371636', 'score': 0.34}, {'connected_gene': 'GC01M180833', 'score': 0.25}]
chr1	GH01I180213	180213401	180213827	1.02	[{'connected_gene': 'GC01M180735', 'score': 550.77}, {'connected_gene': 'QSOX1', 'score': 9.96}, {'connected_gene': 'GC01M180831', 'score': 0.44}, {'connected_gene': 'GC01P180198', 'score': 0.37}, {'connected_gene': 'PIR45997', 'score': 0.37}]
chr1	GH01I180165	180165295	180171322	1.32	[{'connected_gene': 'PIR57354', 'score': 550.77}, {'connected_gene': 'QSOX1', 'score': 43.81}, {'connected_gene': 'GC01M180833', 'score': 0.44}]