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
ENST00000308742	[[38710379, 38710866], [38712062, 38712260], [38713962, 38716388]]	[[38710695, 38710866], [38712062, 38712260], [38713962, 38715015]]
ENST00000551464	[[38710563, 38710866], [38712062, 38712260], [38717714, 38717784]]	[[38710695, 38710866], [38712062, 38712260], [38717714, 38717726]]
ENST00000553138	[[38710568, 38712260], [38713962, 38714252]]	None
ENST00000548240	[[38710640, 38710840], [38712062, 38712260], [38713962, 38715129]]	[[38710695, 38710840], [38712062, 38712151]]
NM_001308340	[[38710556, 38710866], [38712062, 38712260], [38717714, 38723528]]	[[38710695, 38710866], [38712062, 38712260], [38717714, 38717726]]
NM_001013620	[[38710556, 38710866], [38712062, 38712260], [38713962, 38723528]]	[[38710695, 38710866], [38712062, 38712260], [38713962, 38715015]]

Promoter

Chrom	Start	End	Description
chr12	38710555	38710598	CAGE_peak_1_at_ALG10B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I033586	33586632	33590109	1.21	[{'connected_gene': 'ALG10', 'score': 8.3}, {'connected_gene': 'YARS2', 'score': 6.63}, {'connected_gene': 'GC12P033578', 'score': 0.39}, {'connected_gene': 'LOC105369726', 'score': 0.15}]
chr12	GH12I034346	34346384	34347589	0.2	[{'connected_gene': 'ALG10', 'score': 6.28}, {'connected_gene': 'SYT10', 'score': 3.93}, {'connected_gene': 'PIR59367', 'score': 0.22}, {'connected_gene': 'PIR33437', 'score': 0.18}]
chr12	GH12I038315	38315948	38317619	2.09	[{'connected_gene': 'ALG10B', 'score': 569.5}, {'connected_gene': 'CPNE8', 'score': 4.49}, {'connected_gene': 'GC12P038329', 'score': 0.39}]
chr12	GH12I033669	33669906	33672071	0.31	[{'connected_gene': 'ALG10', 'score': 6.24}, {'connected_gene': 'LOC105369726', 'score': 0.39}, {'connected_gene': 'GC12P033578', 'score': 0.16}]
chr12	GH12I034337	34337126	34337275	0.2	[{'connected_gene': 'ALG10', 'score': 6.29}, {'connected_gene': 'PIR59367', 'score': 0.2}, {'connected_gene': 'PIR33437', 'score': 0.19}]
chr12	GH12I039122	39122216	39124368	0.49	[{'connected_gene': 'ALG10B', 'score': 10.55}, {'connected_gene': 'GC12P039117', 'score': 0.44}, {'connected_gene': 'ENSG00000270718', 'score': 0.25}]
chr12	GH12I034021	34021292	34023401	2.08	[{'connected_gene': 'ALG10', 'score': 569.42}, {'connected_gene': 'ENSG00000256538', 'score': 0.37}, {'connected_gene': 'ENSG00000245482', 'score': 0.34}]
chr12	GH12I034125	34125801	34126800	0.76	[{'connected_gene': 'ALG10', 'score': 7.8}, {'connected_gene': 'ENSG00000255628', 'score': 0.34}, {'connected_gene': 'ENSG00000245482', 'score': 0.18}]
chr12	GH12I038903	38903127	38907623	2.06	[{'connected_gene': 'ENSG00000257718', 'score': 560.09}, {'connected_gene': 'CPNE8', 'score': 550.77}, {'connected_gene': 'ALG10B', 'score': 10.17}, {'connected_gene': 'ENSG00000258119', 'score': 0.06}]
chr12	GH12I034218	34218346	34219058	0.8	[{'connected_gene': 'ENSG00000255652', 'score': 554.96}, {'connected_gene': 'ALG10', 'score': 6.33}, {'connected_gene': 'DUX4L27', 'score': 0.44}]
chr12	GH12I038282	38282979	38283128	0.31	[{'connected_gene': 'GC12M038276', 'score': 0.44}, {'connected_gene': 'ENSG00000253016', 'score': 0.44}, {'connected_gene': 'ALG10B', 'score': 0.29}, {'connected_gene': 'GC12P038172', 'score': 0.14}]
chr12	GH12I033989	33989006	33989155	0.2	[{'connected_gene': 'PIR62817', 'score': 0.77}, {'connected_gene': 'ALG10', 'score': 0.29}]