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
ENST00000552283	[[102467966, 102468245], [102468778, 102468872], [102470574, 102470625], [102471099, 102471281], [102479543, 102479634], [102492883, 102492978], [102494809, 102494882], [102505885, 102506010], [102512140, 102512361], [102513827, 102513902]]	[[102468131, 102468245], [102468778, 102468872], [102470574, 102470625], [102471099, 102471281], [102479543, 102479634], [102492883, 102492978], [102494809, 102494882], [102505885, 102506010], [102512140, 102512296]]
ENST00000251074	[[102467974, 102468245], [102468778, 102468872], [102470574, 102470625], [102471099, 102471281], [102479543, 102479634], [102492883, 102492978], [102494809, 102494882], [102505885, 102506010], [102512140, 102512361]]	[[102468131, 102468245], [102468778, 102468872], [102470574, 102470625], [102471099, 102471281], [102479543, 102479634], [102492883, 102492978], [102494809, 102494882], [102505885, 102506010], [102512140, 102512296]]
ENST00000551744	[[102468213, 102468245], [102468778, 102468872], [102470574, 102470625], [102492883, 102492978], [102494809, 102494882], [102505885, 102506010], [102512140, 102512361], [102513827, 102513898]]	[[102468213, 102468245], [102468778, 102468872], [102470574, 102470625], [102492883, 102492978], [102494809, 102494882], [102505885, 102506010], [102512140, 102512296]]
ENST00000551200	[[102470770, 102471281], [102479543, 102479634], [102492883, 102492978], [102494809, 102494882], [102505885, 102506010], [102512140, 102512361], [102513827, 102513869]]	None
ENST00000543021	[[102472855, 102472994], [102479543, 102479634], [102492883, 102492978], [102494809, 102494882], [102505885, 102506010], [102512140, 102512361], [102513827, 102513867]]	None
ENST00000546385	[[102467966, 102468245], [102468778, 102468872], [102470574, 102470778]]	None
ENST00000547269	[[102468022, 102468245], [102468778, 102468872], [102470574, 102470625], [102471099, 102471281], [102472836, 102472994], [102479543, 102479633]]	[[102472988, 102472994], [102479543, 102479633]]
ENST00000548994	[[102505952, 102506010], [102509580, 102509642], [102512140, 102512361], [102513827, 102513868]]	None
ENST00000550459	[[102512142, 102512361], [102512772, 102513198]]	[[102512142, 102512296]]
NM_024057	[[102467966, 102468245], [102468778, 102468872], [102470574, 102470625], [102471099, 102471281], [102479543, 102479634], [102492883, 102492978], [102494809, 102494882], [102505885, 102506010], [102512140, 102512361], [102513827, 102513909]]	[[102468131, 102468245], [102468778, 102468872], [102470574, 102470625], [102471099, 102471281], [102479543, 102479634], [102492883, 102492978], [102494809, 102494882], [102505885, 102506010], [102512140, 102512296]]

Promoter

Chrom	Start	End	Description
chr12	102513843	102513908	CAGE_peak_1_at_NUP37_5end
chr12	102514027	102514036	CAGE_peak_2_at_NUP37_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I102118	102118901	102122172	2.09	[{'connected_gene': 'NUP37', 'score': 560.99}, {'connected_gene': 'PARPBP', 'score': 560.45}, {'connected_gene': 'WASHC3', 'score': 19.86}, {'connected_gene': 'ENSG00000257222', 'score': 19.02}, {'connected_gene': 'PMCH', 'score': 10.74}, {'connected_gene': 'HELLPAR', 'score': 0.18}]
chr12	GH12I102119	102118592	102118651	0.5	[{'connected_gene': 'PARPBP', 'score': 550.77}, {'connected_gene': 'NUP37', 'score': 550.77}, {'connected_gene': 'ENSG00000257222', 'score': 0.22}]
chr12	GH12I102060	102060617	102062732	2.01	[{'connected_gene': 'WASHC3', 'score': 585.47}, {'connected_gene': 'ENSG00000257222', 'score': 550.77}, {'connected_gene': 'UTP20', 'score': 19.1}, {'connected_gene': 'NUP37', 'score': 12.46}, {'connected_gene': 'PARPBP', 'score': 4.79}, {'connected_gene': 'NENFP2', 'score': 0.15}]
chr12	GH12I101279	101279201	101281201	1.96	[{'connected_gene': 'UTP20', 'score': 567.74}, {'connected_gene': 'ARL1', 'score': 19.34}, {'connected_gene': 'ENSG00000257222', 'score': 14.06}, {'connected_gene': 'NUP37', 'score': 12.85}]
chr12	GH12I101669	101669942	101670800	1.02	[{'connected_gene': 'LOC105369936', 'score': 18.24}, {'connected_gene': 'NUP37', 'score': 15.67}, {'connected_gene': 'ENSG00000257222', 'score': 12.52}, {'connected_gene': 'CHPT1', 'score': 12.51}, {'connected_gene': 'UTP20', 'score': 12.3}, {'connected_gene': 'SYCP3', 'score': 10.6}, {'connected_gene': 'GC12P101665', 'score': 0.44}, {'connected_gene': 'ENSG00000274560', 'score': 0.31}, {'connected_gene': 'MYBPC1', 'score': 0.15}]