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
ENST00000519948	[[74931550, 74935223]]	[[74931892, 74932186]]
NM_001136262	[[74931550, 74935232]]	[[74931892, 74932186]]

Promoter

Chrom	Start	End	Description
chr12	74931567	74931656	CAGE_peak_1_at_ATXN7L3B_5end
chr12	74931698	74931709	CAGE_peak_3_at_ATXN7L3B_5end
chr12	74931742	74931761	CAGE_peak_2_at_ATXN7L3B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I074338	74338021	74338230	0.52	[{'connected_gene': 'ATXN7L3B', 'score': 7.1}, {'connected_gene': 'VENTXP3', 'score': 0.25}, {'connected_gene': 'LOC100507377', 'score': 0.21}]
chr12	GH12I074285	74285281	74286322	0.2	[{'connected_gene': 'ATXN7L3B', 'score': 6.49}, {'connected_gene': 'ENSG00000257183', 'score': 4.67}, {'connected_gene': 'VENTXP3', 'score': 0.44}, {'connected_gene': 'LOC100507377', 'score': 0.13}]
chr12	GH12I074042	74042603	74044290	0.76	[{'connected_gene': 'ATXN7L3B', 'score': 5.85}, {'connected_gene': 'LINC02394', 'score': 0.77}, {'connected_gene': 'LOC100128674', 'score': 0.13}]
chr12	GH12I074536	74536869	74542245	2.24	[{'connected_gene': 'ATXN7L3B', 'score': 567.91}, {'connected_gene': 'ENSG00000257386', 'score': 550.77}, {'connected_gene': 'LOC100507377', 'score': 11.68}, {'connected_gene': 'LOC101929967', 'score': 0.18}]
chr12	GH12I074489	74489634	74491230	0.66	[{'connected_gene': 'ATXN7L3B', 'score': 24.31}, {'connected_gene': 'LOC100507377', 'score': 0.17}]
chr12	GH12I074619	74619981	74620110	0.49	[{'connected_gene': 'LOC101929967', 'score': 550.77}, {'connected_gene': 'ATXN7L3B', 'score': 9.99}, {'connected_gene': 'ENSG00000257386', 'score': 0.18}]
chr12	GH12I074508	74508801	74509110	0.88	[{'connected_gene': 'LOC100507377', 'score': 10.35}, {'connected_gene': 'ATXN7L3B', 'score': 0.31}]
chr12	GH12I074274	74274964	74275352	0.22	[{'connected_gene': 'PIR53109', 'score': 550.77}, {'connected_gene': 'ENSG00000257113', 'score': 550.77}, {'connected_gene': 'ATXN7L3B', 'score': 6.48}, {'connected_gene': 'ENSG00000257183', 'score': 0.44}, {'connected_gene': 'LOC100507377', 'score': 0.13}]