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
ENST00000536262	[[101549270, 101551179], [101552026, 101552106], [101555751, 101555855], [101560271, 101560477], [101561873, 101561960], [101573806, 101573874], [101576580, 101576693], [101577911, 101578000], [101581163, 101581293], [101584245, 101584386], [101587402, 101587557], [101588872, 101588940], [101595941, 101595993], [101598277, 101598343], [101603275, 101604185]]	[[101551056, 101551179], [101552026, 101552106], [101555751, 101555855], [101560271, 101560477], [101561873, 101561960], [101573806, 101573874], [101576580, 101576693], [101577911, 101578000], [101581163, 101581293], [101584245, 101584386], [101587402, 101587557], [101588872, 101588940], [101595941, 101595993], [101598277, 101598343], [101603275, 101603626]]
NM_145913	[[101549993, 101551179], [101552026, 101552106], [101555751, 101555855], [101560271, 101560477], [101561873, 101561960], [101573806, 101573874], [101576580, 101576693], [101577911, 101578000], [101581163, 101581293], [101584245, 101584386], [101587402, 101587557], [101588872, 101588940], [101595941, 101595993], [101598277, 101598343], [101603275, 101604016]]	[[101551056, 101551179], [101552026, 101552106], [101555751, 101555855], [101560271, 101560477], [101561873, 101561960], [101573806, 101573874], [101576580, 101576693], [101577911, 101578000], [101581163, 101581293], [101584245, 101584386], [101587402, 101587557], [101588872, 101588940], [101595941, 101595993], [101598277, 101598343], [101603275, 101603626]]

Promoter

Chrom	Start	End	Description
chr12	101603654	101603665	CAGE_peak_5_at_SLC5A8_5end
chr12	101603670	101603682	CAGE_peak_3_at_SLC5A8_5end
chr12	101603978	101603992	CAGE_peak_2_at_SLC5A8_5end
chr12	101604010	101604021	CAGE_peak_1_at_SLC5A8_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I101126	101126712	101128138	0.2	[{'connected_gene': 'SLC5A8', 'score': 4.58}, {'connected_gene': 'GC12M101101', 'score': 0.37}, {'connected_gene': 'SNX5P2', 'score': 0.21}, {'connected_gene': 'ANO4', 'score': 0.05}]
chr12	GH12I101242	101242357	101247145	0.31	[{'connected_gene': 'SLC5A8', 'score': 11.13}, {'connected_gene': 'ARL1', 'score': 4.65}, {'connected_gene': 'RPS6P19', 'score': 0.37}, {'connected_gene': 'UTP20', 'score': 0.28}]
chr12	GH12I101240	101240495	101242270	0.2	[{'connected_gene': 'SLC5A8', 'score': 11.46}, {'connected_gene': 'ARL1', 'score': 7.48}, {'connected_gene': 'RPS6P19', 'score': 0.39}, {'connected_gene': 'UTP20', 'score': 0.28}]
chr12	GH12I101234	101234657	101237366	0.2	[{'connected_gene': 'SLC5A8', 'score': 16.67}, {'connected_gene': 'PARPBP', 'score': 4.45}, {'connected_gene': 'RPS6P19', 'score': 0.44}, {'connected_gene': 'UTP20', 'score': 0.26}]
chr12	GH12I101250	101250082	101250954	0.31	[{'connected_gene': 'SLC5A8', 'score': 10.47}, {'connected_gene': 'UTP20', 'score': 4.58}, {'connected_gene': 'RPS6P19', 'score': 0.34}]
chr12	GH12I101172	101172423	101172572	0.46	[{'connected_gene': 'SLC5A8', 'score': 11.2}, {'connected_gene': 'RNU6-768P', 'score': 0.31}, {'connected_gene': 'GC12M101101', 'score': 0.31}, {'connected_gene': 'GC12M101200', 'score': 0.31}]
chr12	GH12I101210	101210228	101210287	0.84	[{'connected_gene': 'SLC5A8', 'score': 550.77}, {'connected_gene': 'RNU6-768P', 'score': 0.39}, {'connected_gene': 'GC12M101200', 'score': 0.39}]
chr12	GH12I101204	101204770	101205150	0.44	[{'connected_gene': 'ANO4', 'score': 1.29}, {'connected_gene': 'SLC5A8', 'score': 0.44}, {'connected_gene': 'RNU6-768P', 'score': 0.44}, {'connected_gene': 'GC12M101200', 'score': 0.44}]
chr12	GH12I101173	101173544	101175457	0.2	[{'connected_gene': 'RNU6-768P', 'score': 12.2}, {'connected_gene': 'SLC5A8', 'score': 11.33}, {'connected_gene': 'GC12M101200', 'score': 0.34}, {'connected_gene': 'GC12M101101', 'score': 0.29}]
chr12	GH12I101230	101230401	101231190	0.31	[{'connected_gene': 'ENSG00000241744', 'score': 550.77}, {'connected_gene': 'RPS6P19', 'score': 550.77}, {'connected_gene': 'SLC5A8', 'score': 11.18}, {'connected_gene': 'UTP20', 'score': 0.25}]