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
ENST00000266744	[[103351463, 103352780], [103353139, 103354294]]	[[103352022, 103352733]]
NM_004316	[[103351451, 103352780], [103353139, 103354294]]	[[103352022, 103352733]]

Promoter

Chrom	Start	End	Description
chr12	103351444	103351461	CAGE_peak_1_at_ASCL1_5end
chr12	103351694	103351704	CAGE_peak_6_at_ASCL1_5end
chr12	103351813	103351844	CAGE_peak_4_at_ASCL1_5end
chr12	103352105	103352124	CAGE_peak_5_at_ASCL1_5end
chr12	103352277	103352324	CAGE_peak_2_at_ASCL1_5end
chr12	103352326	103352351	CAGE_peak_3_at_ASCL1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I102340	102340566	102340914	0.34	[{'connected_gene': 'PMCH', 'score': 11.12}, {'connected_gene': 'ASCL1', 'score': 5.08}, {'connected_gene': 'GC12M102336', 'score': 0.77}, {'connected_gene': 'GC12M102374', 'score': 0.28}, {'connected_gene': 'LINC02456', 'score': 0.22}, {'connected_gene': 'HELLPAR', 'score': 0.11}]
chr12	GH12I102958	102958203	102958352	0.67	[{'connected_gene': 'PAH', 'score': 550.77}, {'connected_gene': 'ASCL1', 'score': 550.77}]
chr12	GH12I102959	102958383	102958672	0.71	[{'connected_gene': 'PAH', 'score': 550.77}, {'connected_gene': 'ASCL1', 'score': 550.77}, {'connected_gene': 'GC12M102978', 'score': 0.34}]
chr12	GH12I102957	102957625	102957932	1.13	[{'connected_gene': 'PAH', 'score': 550.77}, {'connected_gene': 'ASCL1', 'score': 550.77}]
chr12	GH12I102902	102902441	102905980	0.85	[{'connected_gene': 'ASCL1', 'score': 11.21}, {'connected_gene': 'ENSG00000212594', 'score': 9.35}, {'connected_gene': 'STAB2', 'score': 4.2}, {'connected_gene': 'GC12M102927', 'score': 0.31}, {'connected_gene': 'GC12P102871', 'score': 0.29}, {'connected_gene': 'PAH', 'score': 0.23}]
chr12	GH12I102884	102884920	102886961	0.86	[{'connected_gene': 'ASCL1', 'score': 11.3}, {'connected_gene': 'PAH', 'score': 4.54}, {'connected_gene': 'GC12P102871', 'score': 0.39}, {'connected_gene': 'GC12M102927', 'score': 0.26}]
chr12	GH12I102879	102879263	102879452	0.69	[{'connected_gene': 'ASCL1', 'score': 11.29}, {'connected_gene': 'PAH', 'score': 5.45}, {'connected_gene': 'GC12P102871', 'score': 0.44}, {'connected_gene': 'GC12M102927', 'score': 0.23}]
chr12	GH12I102977	102977571	102978832	0.4	[{'connected_gene': 'ASCL1', 'score': 11.95}, {'connected_gene': 'GC12M102978', 'score': 0.44}, {'connected_gene': 'PAH', 'score': 0.37}]
chr12	GH12I103548	103548243	103549155	0.69	[{'connected_gene': 'LINC02401', 'score': 550.77}, {'connected_gene': 'C12orf42', 'score': 11.92}, {'connected_gene': 'ASCL1', 'score': 11.83}, {'connected_gene': 'GC12P103574', 'score': 0.31}]