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
ENST00000540200	[[26673658, 26675257], [26676108, 26676188], [26677463, 26677589], [26677791, 26677818], [26678689, 26678826], [26679937, 26680045], [26680266, 26680342], [26680720, 26680817], [26681513, 26681611], [26682820, 26682902], [26684313, 26684393], [26684395, 26684473]]	[[26675142, 26675257], [26676108, 26676188], [26677463, 26677589], [26677791, 26677818], [26678689, 26678826], [26679937, 26680045], [26680266, 26680342], [26680720, 26680817], [26681513, 26681611], [26682820, 26682902], [26684313, 26684393], [26684395, 26684473]]
ENST00000003607	[[26674202, 26675257], [26676108, 26676188], [26677463, 26677589], [26677791, 26677818], [26678689, 26678826], [26679937, 26680045], [26680266, 26680342], [26680720, 26680817], [26681513, 26681611], [26682820, 26682902], [26684313, 26684545]]	None
NM_015584	[[26673653, 26675257], [26676108, 26676188], [26677463, 26677589], [26677791, 26677818], [26678689, 26678826], [26679937, 26680045], [26680266, 26680342], [26680720, 26680817], [26681513, 26681611], [26682820, 26682902], [26684313, 26684390], [26684392, 26684612]]	[[26675142, 26675257], [26676108, 26676188], [26677463, 26677589], [26677791, 26677818], [26678689, 26678826], [26679937, 26680045], [26680266, 26680342], [26680720, 26680817], [26681513, 26681611], [26682820, 26682902], [26684313, 26684390], [26684392, 26684473]]
NM_001290145	[[26673653, 26675257], [26676108, 26676188], [26677463, 26677589], [26677791, 26677818], [26678689, 26678826], [26679937, 26680045], [26680266, 26680342], [26680720, 26680817], [26681513, 26681557], [26682820, 26682902], [26684313, 26684390], [26684392, 26684612]]	[[26675142, 26675257], [26676108, 26676188], [26677463, 26677589], [26677791, 26677818], [26678689, 26678826], [26679937, 26680045], [26680266, 26680342], [26680720, 26680817], [26681513, 26681557], [26682820, 26682902], [26684313, 26684390], [26684392, 26684473]]

Promoter

Chrom	Start	End	Description
chr17	26684579	26684590	CAGE_peak_3_at_POLDIP2_5end
chr17	26684598	26684613	CAGE_peak_2_at_POLDIP2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I028345	28345085	28348479	1.23	[{'connected_gene': 'VTN', 'score': 8.12}, {'connected_gene': 'PIR31294', 'score': 0.77}, {'connected_gene': 'PIR62966', 'score': 0.44}, {'connected_gene': 'TNFAIP1', 'score': 0.39}, {'connected_gene': 'POLDIP2', 'score': 0.39}]
chr17	GH17I028333	28333915	28339817	2.29	[{'connected_gene': 'TNFAIP1', 'score': 550.77}, {'connected_gene': 'IFT20', 'score': 550.77}, {'connected_gene': 'SUPT6H', 'score': 26.21}, {'connected_gene': 'ENSG00000264577', 'score': 24.74}, {'connected_gene': 'NUFIP2', 'score': 24.02}, {'connected_gene': 'ITM2BP1', 'score': 20.74}, {'connected_gene': 'RPL23A', 'score': 12.34}, {'connected_gene': 'TMEM97', 'score': 12.33}, {'connected_gene': 'NEK8', 'score': 12.23}, {'connected_gene': 'POLDIP2', 'score': 12.21}, {'connected_gene': 'TMEM199', 'score': 12.02}, {'connected_gene': 'LOC101927018', 'score': 11.86}, {'connected_gene': 'ENSG00000265474', 'score': 11.23}, {'connected_gene': 'ENSG00000265908', 'score': 10.58}, {'connected_gene': 'PHF12', 'score': 10.52}, {'connected_gene': 'RAB34', 'score': 10.21}, {'connected_gene': 'VTN', 'score': 7.78}, {'connected_gene': 'PIR55130', 'score': 0.44}]
chr17	GH17I028282	28282002	28283787	0.97	[{'connected_gene': 'TMEM97', 'score': 12.11}, {'connected_gene': 'SUPT6H', 'score': 9.94}, {'connected_gene': 'POLDIP2', 'score': 4.87}, {'connected_gene': 'SARM1', 'score': 4.86}, {'connected_gene': 'PIRC93', 'score': 0.77}, {'connected_gene': 'PIR58208', 'score': 0.44}, {'connected_gene': 'GC17M029101', 'score': 0.44}, {'connected_gene': 'KRT18P55', 'score': 0.29}]
chr17	GH17I028393	28393995	28399737	0.8	[{'connected_gene': 'POLDIP2', 'score': 23.36}, {'connected_gene': 'VTN', 'score': 11.72}, {'connected_gene': 'SARM1', 'score': 11.68}, {'connected_gene': 'TMEM199', 'score': 11.66}, {'connected_gene': 'TNFAIP1', 'score': 11.29}, {'connected_gene': 'IFT20', 'score': 11.29}, {'connected_gene': 'FOXN1', 'score': 10.81}, {'connected_gene': 'UNC119', 'score': 10.44}, {'connected_gene': 'PIGS', 'score': 10.43}, {'connected_gene': 'GC17M029117', 'score': 0.77}, {'connected_gene': 'SLC46A1', 'score': 0.39}, {'connected_gene': 'ENSG00000279532', 'score': 0.34}]
chr17	GH17I028355	28355865	28358706	2.06	[{'connected_gene': 'TMEM199', 'score': 561.24}, {'connected_gene': 'POLDIP2', 'score': 550.77}, {'connected_gene': 'ENSG00000258924', 'score': 550.77}, {'connected_gene': 'SUPT6H', 'score': 28.82}, {'connected_gene': 'SARM1', 'score': 12.1}, {'connected_gene': 'ITM2BP1', 'score': 11.93}, {'connected_gene': 'PHF12', 'score': 11.83}, {'connected_gene': 'SLC46A1', 'score': 11.21}, {'connected_gene': 'NUFIP2', 'score': 10.75}, {'connected_gene': 'UNC119', 'score': 9.92}, {'connected_gene': 'PIGS', 'score': 9.92}, {'connected_gene': 'ENSG00000264577', 'score': 9.7}, {'connected_gene': 'VTN', 'score': 7.09}, {'connected_gene': 'TRAF4', 'score': 5.05}, {'connected_gene': 'PIR62966', 'score': 0.77}]
chr17	GH17I028348	28348642	28349461	0.31	[{'connected_gene': 'TMEM199', 'score': 8.34}, {'connected_gene': 'PIR31294', 'score': 0.77}, {'connected_gene': 'POLDIP2', 'score': 0.44}, {'connected_gene': 'PIR62966', 'score': 0.44}]
chr17	GH17I028403	28403896	28408945	2.01	[{'connected_gene': 'SLC46A1', 'score': 550.77}, {'connected_gene': 'ENSG00000265254', 'score': 550.77}, {'connected_gene': 'SUPT6H', 'score': 14.68}, {'connected_gene': 'NUFIP2', 'score': 14.11}, {'connected_gene': 'NEK8', 'score': 12.24}, {'connected_gene': 'ENSG00000264577', 'score': 11.53}, {'connected_gene': 'ENSG00000265474', 'score': 11.23}, {'connected_gene': 'POLDIP2', 'score': 10.68}, {'connected_gene': 'ITM2BP1', 'score': 10.47}, {'connected_gene': 'TMEM97', 'score': 5.09}, {'connected_gene': 'NOS2', 'score': 3.92}, {'connected_gene': 'GC17P028402', 'score': 0.77}, {'connected_gene': 'SARM1', 'score': 0.26}]
chr17	GH17I028250	28250695	28252364	1.13	[{'connected_gene': 'LOC105371712', 'score': 550.77}, {'connected_gene': 'GC17M028252', 'score': 550.77}, {'connected_gene': 'POLDIP2', 'score': 5.33}, {'connected_gene': 'TMEM97', 'score': 4.67}, {'connected_gene': 'PIRC93', 'score': 0.28}]
chr17	GH17I028259	28258315	28258464	0.38	[{'connected_gene': 'ENSG00000264486', 'score': 550.77}, {'connected_gene': 'ENSG00000263788', 'score': 550.77}, {'connected_gene': 'POLDIP2', 'score': 5.22}, {'connected_gene': 'GC17M029082', 'score': 0.77}, {'connected_gene': 'PIR53864', 'score': 0.77}, {'connected_gene': 'PIRC93', 'score': 0.31}]