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
ENST00000368147	[[158580495, 158581179], [158582606, 158582751], [158583510, 158583657], [158584042, 158584096], [158585005, 158585193], [158587326, 158587378], [158587828, 158587846], [158589011, 158589124], [158589959, 158590256], [158592772, 158592982], [158595935, 158596012], [158596628, 158596797], [158597414, 158597513], [158604332, 158604465], [158605702, 158605824], [158606430, 158606551], [158607822, 158608031], [158609371, 158609476], [158609659, 158609797], [158612200, 158612332], [158612603, 158612766], [158613111, 158613215], [158614042, 158614186], [158614977, 158615175], [158615284, 158615384], [158617328, 158617510], [158618298, 158618443], [158619645, 158619737], [158621156, 158621258], [158622256, 158622443], [158623063, 158623215], [158624400, 158624538], [158626353, 158626446], [158627266, 158627484], [158631076, 158631199], [158632491, 158632735], [158636105, 158636287], [158637647, 158637852], [158639197, 158639353], [158639498, 158639576], [158641132, 158641243], [158641848, 158641986], [158644118, 158644220], [158644329, 158644465], [158645930, 158646085], [158647479, 158647624], [158648190, 158648324], [158650372, 158650519], [158651316, 158651457], [158653160, 158653286], [158654897, 158655137], [158656283, 158656488]]	[[158581053, 158581179], [158582606, 158582751], [158583510, 158583657], [158584042, 158584096], [158585005, 158585193], [158587326, 158587378], [158587828, 158587846], [158589011, 158589124], [158589959, 158590256], [158592772, 158592982], [158595935, 158596012], [158596628, 158596797], [158597414, 158597513], [158604332, 158604465], [158605702, 158605824], [158606430, 158606551], [158607822, 158608031], [158609371, 158609476], [158609659, 158609797], [158612200, 158612332], [158612603, 158612766], [158613111, 158613215], [158614042, 158614186], [158614977, 158615175], [158615284, 158615384], [158617328, 158617510], [158618298, 158618443], [158619645, 158619737], [158621156, 158621258], [158622256, 158622443], [158623063, 158623215], [158624400, 158624538], [158626353, 158626446], [158627266, 158627484], [158631076, 158631199], [158632491, 158632735], [158636105, 158636287], [158637647, 158637852], [158639197, 158639353], [158639498, 158639576], [158641132, 158641243], [158641848, 158641986], [158644118, 158644220], [158644329, 158644465], [158645930, 158646085], [158647479, 158647624], [158648190, 158648324], [158650372, 158650519], [158651316, 158651457], [158653160, 158653286], [158654897, 158655137], [158656283, 158656307]]
ENST00000461624	[[158592508, 158592982], [158595935, 158596012], [158596628, 158596797], [158597414, 158597513], [158604332, 158604443]]	None
ENST00000485680	[[158580997, 158581179], [158581575, 158581815]]	None
ENST00000481212	[[158582538, 158582751], [158583510, 158583657], [158584042, 158584325]]	None
ENST00000498708	[[158582572, 158582751], [158583510, 158583657], [158584042, 158584096], [158585005, 158585193], [158587326, 158587358]]	None
ENST00000492934	[[158584537, 158585193], [158587326, 158587378], [158587828, 158587891]]	None
ENST00000484520	[[158588975, 158589124], [158589959, 158590579]]	None
ENST00000465741	[[158609018, 158609476], [158609659, 158609797], [158612200, 158612322]]	None
ENST00000467387	[[158647516, 158647624], [158648190, 158648324], [158655029, 158655137], [158656283, 158656398]]	[[158647516, 158647624], [158648190, 158648324], [158655029, 158655137], [158656283, 158656307]]
NM_003126	[[158580495, 158581179], [158582606, 158582751], [158583510, 158583657], [158584042, 158584096], [158585005, 158585193], [158587326, 158587378], [158587828, 158587846], [158589011, 158589124], [158589959, 158590256], [158592772, 158592982], [158595935, 158596012], [158596628, 158596797], [158597414, 158597513], [158604332, 158604465], [158605702, 158605824], [158606430, 158606551], [158607822, 158608031], [158609371, 158609476], [158609659, 158609797], [158612200, 158612332], [158612603, 158612766], [158613111, 158613215], [158614042, 158614186], [158614977, 158615175], [158615284, 158615384], [158617328, 158617510], [158618298, 158618443], [158619645, 158619737], [158621156, 158621258], [158622256, 158622443], [158623063, 158623215], [158624400, 158624538], [158626353, 158626446], [158627266, 158627484], [158631076, 158631199], [158632491, 158632735], [158636105, 158636287], [158637647, 158637852], [158639197, 158639353], [158639498, 158639576], [158641132, 158641243], [158641848, 158641986], [158644118, 158644220], [158644329, 158644465], [158645930, 158646085], [158647479, 158647624], [158648190, 158648324], [158650372, 158650519], [158651316, 158651457], [158653160, 158653286], [158654897, 158655137], [158656283, 158656506]]	[[158581053, 158581179], [158582606, 158582751], [158583510, 158583657], [158584042, 158584096], [158585005, 158585193], [158587326, 158587378], [158587828, 158587846], [158589011, 158589124], [158589959, 158590256], [158592772, 158592982], [158595935, 158596012], [158596628, 158596797], [158597414, 158597513], [158604332, 158604465], [158605702, 158605824], [158606430, 158606551], [158607822, 158608031], [158609371, 158609476], [158609659, 158609797], [158612200, 158612332], [158612603, 158612766], [158613111, 158613215], [158614042, 158614186], [158614977, 158615175], [158615284, 158615384], [158617328, 158617510], [158618298, 158618443], [158619645, 158619737], [158621156, 158621258], [158622256, 158622443], [158623063, 158623215], [158624400, 158624538], [158626353, 158626446], [158627266, 158627484], [158631076, 158631199], [158632491, 158632735], [158636105, 158636287], [158637647, 158637852], [158639197, 158639353], [158639498, 158639576], [158641132, 158641243], [158641848, 158641986], [158644118, 158644220], [158644329, 158644465], [158645930, 158646085], [158647479, 158647624], [158648190, 158648324], [158650372, 158650519], [158651316, 158651457], [158653160, 158653286], [158654897, 158655137], [158656283, 158656307]]

Promoter

Chrom	Start	End	Description
chr1	158581110	158581114	CAGE_peak_7_at_SPTA1_5end
chr1	158590627	158590630	CAGE_peak_6_at_SPTA1_5end
chr1	158656373	158656385	CAGE_peak_5_at_SPTA1_5end
chr1	158656386	158656417	CAGE_peak_1_at_SPTA1_5end
chr1	158656419	158656436	CAGE_peak_3_at_SPTA1_5end
chr1	158656470	158656481	CAGE_peak_4_at_SPTA1_5end
chr1	158656491	158656511	CAGE_peak_2_at_SPTA1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I158244	158244862	158246281	0.2	[{'connected_gene': 'CD1C', 'score': 11.39}, {'connected_gene': 'SPTA1', 'score': 9.58}, {'connected_gene': 'ENSG00000176320', 'score': 6.23}, {'connected_gene': 'CD1A', 'score': 0.77}, {'connected_gene': 'GC01P158234', 'score': 0.39}]
chr1	GH01I158793	158793647	158797614	0.46	[{'connected_gene': 'OR2AQ1P', 'score': 550.77}, {'connected_gene': 'OR6N1', 'score': 11.46}, {'connected_gene': 'SPTA1', 'score': 10.72}, {'connected_gene': 'OR6K6', 'score': 10.28}, {'connected_gene': 'OR6K2', 'score': 9.65}, {'connected_gene': 'OR10X1', 'score': 9.4}, {'connected_gene': 'OR6N2', 'score': 0.39}]
chr1	GH01I158691	158691975	158692106	0.67	[{'connected_gene': 'OR6K1P', 'score': 0.77}, {'connected_gene': 'SPTA1', 'score': 0.44}]
chr1	GH01I158692	158691689	158691810	0.31	[{'connected_gene': 'OR6K1P', 'score': 0.77}, {'connected_gene': 'SPTA1', 'score': 0.44}]
chr1	GH01I158688	158687301	158687420	0.43	[{'connected_gene': 'SPTA1', 'score': 550.77}, {'connected_gene': 'OR6K1P', 'score': 0.44}]
chr1	GH01I158654	158654531	158655346	0.51	[{'connected_gene': 'SPTA1', 'score': 45.93}, {'connected_gene': 'OR6K2', 'score': 10.78}, {'connected_gene': 'OR6N1', 'score': 10.03}, {'connected_gene': 'OR6P1', 'score': 9.83}, {'connected_gene': 'OR6K6', 'score': 9.76}, {'connected_gene': 'OR10Z1', 'score': 0.25}]
chr1	GH01I158689	158689227	158689338	0.72	[{'connected_gene': 'SPTA1', 'score': 48.8}, {'connected_gene': 'OR6N1', 'score': 2.09}, {'connected_gene': 'OR6K3', 'score': 1.92}, {'connected_gene': 'OR10K1', 'score': 1.39}, {'connected_gene': 'OR10Z1', 'score': 1.37}, {'connected_gene': 'OR6K1P', 'score': 0.44}]
chr1	GH01I158687	158685033	158685171	0.43	[{'connected_gene': 'SPTA1', 'score': 550.77}, {'connected_gene': 'OR6K4P', 'score': 4.64}, {'connected_gene': 'OR10Z1', 'score': 0.18}]
chr1	GH01I158684	158684182	158684302	0.31	[{'connected_gene': 'SPTA1', 'score': 0.77}, {'connected_gene': 'OR10Z1', 'score': 0.18}]
chr1	GH01I158686	158685356	158685484	0.43	[{'connected_gene': 'SPTA1', 'score': 550.77}, {'connected_gene': 'OR10Z1', 'score': 0.18}]
chr1	GH01I158685	158685861	158687045	1.6	[{'connected_gene': 'SPTA1', 'score': 550.77}, {'connected_gene': 'OR10Z1', 'score': 0.18}]
chr1	GH01I158358	158358359	158360954	0.2	[{'connected_gene': 'SPTA1', 'score': 13.68}, {'connected_gene': 'OR10T2', 'score': 11.05}, {'connected_gene': 'CD1B', 'score': 10.67}, {'connected_gene': 'CD1C', 'score': 10.36}, {'connected_gene': 'OR10R2', 'score': 10.06}, {'connected_gene': 'CD1E', 'score': 0.44}]
chr1	GH01I158646	158646201	158646920	0.54	[{'connected_gene': 'IFI16', 'score': 5.26}, {'connected_gene': 'OR10Z1', 'score': 0.26}, {'connected_gene': 'SPTA1', 'score': 0.26}]
chr1	GH01I158493	158493046	158493397	0.26	[{'connected_gene': 'ENSG00000236656', 'score': 550.77}, {'connected_gene': 'CD1E', 'score': 15.21}, {'connected_gene': 'SPTA1', 'score': 7.05}, {'connected_gene': 'OR6N1', 'score': 5.51}, {'connected_gene': 'CD1B', 'score': 4.28}, {'connected_gene': 'OR10T2', 'score': 2.63}, {'connected_gene': 'OR10R3P', 'score': 0.77}]