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
ENST00000577936	[[26833260, 26833461], [26850978, 26851110], [26851520, 26851749]]	[[26850987, 26851110], [26851520, 26851749]]
ENST00000579795	[[26833277, 26833461], [26850973, 26851110], [26851520, 26851985], [26854268, 26854379], [26856111, 26856242], [26857766, 26857863], [26861348, 26861556], [26861724, 26862216], [26864134, 26864454]]	[[26850987, 26851110], [26851520, 26851985], [26854268, 26854379], [26856111, 26856242], [26857766, 26857863], [26861348, 26861556], [26861724, 26862216], [26864134, 26864454]]
ENST00000226247	[[26850958, 26851110], [26851520, 26851985], [26854268, 26854379], [26856111, 26856242], [26857766, 26857863], [26861348, 26861556], [26861724, 26862216], [26864134, 26865914]]	[[26850987, 26851110], [26851520, 26851985], [26854268, 26854379], [26856111, 26856242], [26857766, 26857863], [26861348, 26861556], [26861724, 26862216], [26864134, 26864454]]
NM_003593	[[26850958, 26851110], [26851520, 26851985], [26854268, 26854379], [26856111, 26856242], [26857766, 26857863], [26861348, 26861556], [26861724, 26862216], [26864134, 26865175]]	[[26850987, 26851110], [26851520, 26851985], [26854268, 26854379], [26856111, 26856242], [26857766, 26857863], [26861348, 26861556], [26861724, 26862216], [26864134, 26864454]]

Promoter

Chrom	Start	End	Description
chr17	26833250	26833262	CAGE_peak_2_at_FOXN1_5end
chr17	26833339	26833378	CAGE_peak_1_at_FOXN1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I028533	28533685	28533692	0.66	[{'connected_gene': 'PIGS', 'score': 11.64}, {'connected_gene': 'SLC46A1', 'score': 10.36}, {'connected_gene': 'GC17P028538', 'score': 0.77}, {'connected_gene': 'FOXN1', 'score': 0.31}, {'connected_gene': 'ENSG00000258472', 'score': 0.18}]
chr17	GH17I028526	28526796	28529121	1.15	[{'connected_gene': 'UNC119', 'score': 11.93}, {'connected_gene': 'PIGS', 'score': 11.86}, {'connected_gene': 'FOXN1', 'score': 7.54}, {'connected_gene': 'ENSG00000265205', 'score': 5.71}, {'connected_gene': 'GC17P028538', 'score': 0.39}, {'connected_gene': 'ENSG00000258472', 'score': 0.17}]
chr17	GH17I028546	28546549	28554270	1.98	[{'connected_gene': 'UNC119', 'score': 557.93}, {'connected_gene': 'PIGS', 'score': 22.21}, {'connected_gene': 'ENSG00000264577', 'score': 15.63}, {'connected_gene': 'NUFIP2', 'score': 15.47}, {'connected_gene': 'LOC101927018', 'score': 13.56}, {'connected_gene': 'PHF12', 'score': 13.09}, {'connected_gene': 'ENSG00000265205', 'score': 12.41}, {'connected_gene': 'SDF2', 'score': 12.34}, {'connected_gene': 'FOXN1', 'score': 12.11}, {'connected_gene': 'SUPT6H', 'score': 12.09}, {'connected_gene': 'ALDOC', 'score': 11.68}, {'connected_gene': 'ENSG00000265908', 'score': 11.4}, {'connected_gene': 'ITM2BP1', 'score': 11.24}, {'connected_gene': 'RPL23A', 'score': 10.48}, {'connected_gene': 'GC17P028538', 'score': 0.39}, {'connected_gene': 'ENSG00000258472', 'score': 0.21}]
chr17	GH17I028486	28486979	28489710	0.6	[{'connected_gene': 'UNC119', 'score': 11.22}, {'connected_gene': 'PIGS', 'score': 11.19}, {'connected_gene': 'SLC46A1', 'score': 10.92}, {'connected_gene': 'SPAG5-AS1', 'score': 10.66}, {'connected_gene': 'SGK494', 'score': 10.65}, {'connected_gene': 'FOXN1', 'score': 5.33}, {'connected_gene': 'SLC13A2', 'score': 0.37}, {'connected_gene': 'ENSG00000258472', 'score': 0.13}]
chr17	GH17I028493	28493091	28493983	0.43	[{'connected_gene': 'UNC119', 'score': 11.69}, {'connected_gene': 'PIGS', 'score': 11.65}, {'connected_gene': 'SPAG5-AS1', 'score': 11.26}, {'connected_gene': 'SGK494', 'score': 11.24}, {'connected_gene': 'FOXN1', 'score': 10.75}, {'connected_gene': 'SLC46A1', 'score': 10.52}, {'connected_gene': 'SLC13A2', 'score': 0.34}, {'connected_gene': 'ENSG00000258472', 'score': 0.13}]
chr17	GH17I028499	28499724	28500388	0.63	[{'connected_gene': 'UNC119', 'score': 11.54}, {'connected_gene': 'PIGS', 'score': 11.5}, {'connected_gene': 'SPAG5-AS1', 'score': 11.01}, {'connected_gene': 'SGK494', 'score': 11.0}, {'connected_gene': 'SLC46A1', 'score': 10.71}, {'connected_gene': 'KIAA0100', 'score': 9.81}, {'connected_gene': 'FOXN1', 'score': 6.18}, {'connected_gene': 'SLC13A2', 'score': 0.31}, {'connected_gene': 'ENSG00000258472', 'score': 0.14}]
chr17	GH17I028502	28499003	28499152	0.46	[{'connected_gene': 'UNC119', 'score': 11.54}, {'connected_gene': 'PIGS', 'score': 11.5}, {'connected_gene': 'SPAG5-AS1', 'score': 11.01}, {'connected_gene': 'SGK494', 'score': 10.99}, {'connected_gene': 'SLC46A1', 'score': 10.71}, {'connected_gene': 'KIAA0100', 'score': 9.81}, {'connected_gene': 'FOXN1', 'score': 0.44}, {'connected_gene': 'SLC13A2', 'score': 0.31}, {'connected_gene': 'ENSG00000258472', 'score': 0.13}]
chr17	GH17I028501	28499343	28499492	0.52	[{'connected_gene': 'UNC119', 'score': 11.54}, {'connected_gene': 'PIGS', 'score': 11.5}, {'connected_gene': 'SPAG5-AS1', 'score': 11.01}, {'connected_gene': 'SGK494', 'score': 11.0}, {'connected_gene': 'SLC46A1', 'score': 10.71}, {'connected_gene': 'KIAA0100', 'score': 9.81}, {'connected_gene': 'FOXN1', 'score': 4.83}, {'connected_gene': 'SLC13A2', 'score': 0.31}, {'connected_gene': 'ENSG00000258472', 'score': 0.14}]
chr17	GH17I028500	28500953	28501306	0.95	[{'connected_gene': 'UNC119', 'score': 12.67}, {'connected_gene': 'PIGS', 'score': 11.5}, {'connected_gene': 'SPAG5-AS1', 'score': 11.01}, {'connected_gene': 'SGK494', 'score': 11.0}, {'connected_gene': 'SLC46A1', 'score': 10.71}, {'connected_gene': 'KIAA0100', 'score': 9.8}, {'connected_gene': 'FOXN1', 'score': 5.36}, {'connected_gene': 'SPAG5', 'score': 2.44}, {'connected_gene': 'SEBOX', 'score': 1.8}, {'connected_gene': 'TMEM97', 'score': 1.58}, {'connected_gene': 'RPL23A', 'score': 1.26}, {'connected_gene': 'SLC13A2', 'score': 0.31}, {'connected_gene': 'ENSG00000258472', 'score': 0.14}]
chr17	GH17I028494	28494803	28494972	0.78	[{'connected_gene': 'UNC119', 'score': 11.69}, {'connected_gene': 'PIGS', 'score': 11.65}, {'connected_gene': 'SPAG5-AS1', 'score': 11.26}, {'connected_gene': 'SGK494', 'score': 11.24}, {'connected_gene': 'SLC46A1', 'score': 10.52}, {'connected_gene': 'FOXN1', 'score': 0.39}, {'connected_gene': 'SLC13A2', 'score': 0.34}, {'connected_gene': 'ENSG00000258472', 'score': 0.13}]
chr17	GH17I028495	28494583	28494640	0.49	[{'connected_gene': 'UNC119', 'score': 11.69}, {'connected_gene': 'PIGS', 'score': 11.65}, {'connected_gene': 'SPAG5-AS1', 'score': 11.26}, {'connected_gene': 'SGK494', 'score': 11.24}, {'connected_gene': 'SLC46A1', 'score': 10.52}, {'connected_gene': 'FOXN1', 'score': 0.39}, {'connected_gene': 'SLC13A2', 'score': 0.34}, {'connected_gene': 'ENSG00000258472', 'score': 0.13}]
chr17	GH17I028497	28497543	28498235	0.6	[{'connected_gene': 'UNC119', 'score': 11.7}, {'connected_gene': 'PIGS', 'score': 11.66}, {'connected_gene': 'SPAG5-AS1', 'score': 11.26}, {'connected_gene': 'SGK494', 'score': 11.24}, {'connected_gene': 'SLC46A1', 'score': 10.51}, {'connected_gene': 'FOXN1', 'score': 0.44}, {'connected_gene': 'SLC13A2', 'score': 0.34}, {'connected_gene': 'ENSG00000258472', 'score': 0.13}]
chr17	GH17I028472	28472999	28476717	1.69	[{'connected_gene': 'SLC13A2', 'score': 550.77}, {'connected_gene': 'FOXN1', 'score': 0.29}, {'connected_gene': 'ENSG00000258472', 'score': 0.12}]
chr17	GH17I028507	28507651	28508401	0.58	[{'connected_gene': 'FOXN1', 'score': 562.0}, {'connected_gene': 'PIGS', 'score': 11.41}, {'connected_gene': 'SPAG5-AS1', 'score': 10.79}, {'connected_gene': 'SGK494', 'score': 10.78}, {'connected_gene': 'SLC46A1', 'score': 10.63}, {'connected_gene': 'GC17P028538', 'score': 0.29}, {'connected_gene': 'ENSG00000258472', 'score': 0.14}]
chr17	GH17I028524	28524402	28526597	1.05	[{'connected_gene': 'FOXN1', 'score': 7.6}, {'connected_gene': 'PROCA1', 'score': 4.13}, {'connected_gene': 'GC17P028538', 'score': 0.39}, {'connected_gene': 'ENSG00000258472', 'score': 0.17}]
chr17	GH17I028480	28480161	28481749	0.51	[{'connected_gene': 'FOXN1', 'score': 17.55}, {'connected_gene': 'SLC46A1', 'score': 11.27}, {'connected_gene': 'UNC119', 'score': 10.78}, {'connected_gene': 'PIGS', 'score': 10.75}, {'connected_gene': 'TMEM97', 'score': 4.36}, {'connected_gene': 'SLC13A2', 'score': 0.44}, {'connected_gene': 'ENSG00000258472', 'score': 0.12}]
chr17	GH17I028483	28483541	28483854	0.58	[{'connected_gene': 'FOXN1', 'score': 11.68}, {'connected_gene': 'SLC46A1', 'score': 10.93}, {'connected_gene': 'UNC119', 'score': 10.8}, {'connected_gene': 'PIGS', 'score': 10.76}, {'connected_gene': 'PROCA1', 'score': 4.95}, {'connected_gene': 'SLC13A2', 'score': 0.39}, {'connected_gene': 'ENSG00000258472', 'score': 0.12}]
chr17	GH17I028513	28513467	28515432	0.6	[{'connected_gene': 'FOXN1', 'score': 10.26}, {'connected_gene': 'GC17P028538', 'score': 0.34}, {'connected_gene': 'ENSG00000258472', 'score': 0.15}]
chr17	GH17I028523	28523930	28523989	0.76	[{'connected_gene': 'FOXN1', 'score': 550.37}, {'connected_gene': 'GC17P028538', 'score': 0.39}, {'connected_gene': 'ENSG00000258472', 'score': 0.16}]
chr17	GH17I028519	28519363	28519512	0.2	[{'connected_gene': 'FOXN1', 'score': 0.39}, {'connected_gene': 'GC17P028538', 'score': 0.37}, {'connected_gene': 'ENSG00000258472', 'score': 0.16}]
chr17	GH17I028391	28391705	28391899	0.39	[{'connected_gene': 'SEBOX', 'score': 3.34}, {'connected_gene': 'SARM1', 'score': 1.92}, {'connected_gene': 'FOXN1', 'score': 1.63}, {'connected_gene': 'FAM222B', 'score': 1.18}, {'connected_gene': 'GC17M029117', 'score': 0.44}, {'connected_gene': 'ENSG00000279532', 'score': 0.37}]
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	GH17I028477	28477382	28477913	0.31	[{'connected_gene': 'SLC46A1', 'score': 11.27}, {'connected_gene': 'UNC119', 'score': 10.6}, {'connected_gene': 'PIGS', 'score': 10.58}, {'connected_gene': 'SLC13A2', 'score': 0.77}, {'connected_gene': 'FOXN1', 'score': 0.31}, {'connected_gene': 'ENSG00000258472', 'score': 0.12}]
chr17	GH17I028479	28479403	28479552	0.4	[{'connected_gene': 'SLC46A1', 'score': 11.27}, {'connected_gene': 'UNC119', 'score': 10.61}, {'connected_gene': 'PIGS', 'score': 10.58}, {'connected_gene': 'SLC13A2', 'score': 0.44}, {'connected_gene': 'FOXN1', 'score': 0.31}, {'connected_gene': 'ENSG00000258472', 'score': 0.12}]
chr17	GH17I028436	28436706	28436925	0.55	[{'connected_gene': 'SLC46A1', 'score': 11.59}, {'connected_gene': 'FOXN1', 'score': 10.6}, {'connected_gene': 'NEK8', 'score': 5.6}, {'connected_gene': 'SUPT6H', 'score': 2.32}, {'connected_gene': 'TMEM199', 'score': 2.04}, {'connected_gene': 'SDF2', 'score': 1.68}, {'connected_gene': 'LOC101060112', 'score': 0.44}, {'connected_gene': 'H3F3BP2', 'score': 0.37}]