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
ENST00000272342	[[67624450, 67624803], [67626300, 67626429], [67626681, 67626758], [67629993, 67630106], [67630356, 67632467], [67637042, 67637677]]	[[67624580, 67624803], [67626300, 67626429], [67626681, 67626758], [67629993, 67630106], [67630356, 67632467], [67637042, 67637170]]
ENST00000462772	[[67629925, 67630106], [67632128, 67632467]]	None
NM_019002	[[67624441, 67624803], [67626300, 67626429], [67626681, 67626758], [67629993, 67630106], [67630356, 67632467], [67637042, 67637533]]	[[67624580, 67624803], [67626300, 67626429], [67626681, 67626758], [67629993, 67630106], [67630356, 67632467], [67637042, 67637170]]

Promoter

Chrom	Start	End	Description
chr2	67624430	67624479	CAGE_peak_1_at_ETAA1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I068248	68248646	68254563	2.27	[{'connected_gene': 'PPP3R1', 'score': 570.92}, {'connected_gene': 'WDR92', 'score': 18.47}, {'connected_gene': 'ETAA1', 'score': 12.0}, {'connected_gene': 'PNO1', 'score': 10.51}, {'connected_gene': 'LOC102724389', 'score': 0.77}, {'connected_gene': 'ENSG00000273398', 'score': 0.44}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2	GH02I067255	67255484	67262333	0.91	[{'connected_gene': 'ETAA1', 'score': 10.36}, {'connected_gene': 'GC02P067286', 'score': 0.31}, {'connected_gene': 'LINC01829', 'score': 0.26}, {'connected_gene': 'LINC01828', 'score': 0.09}]
chr2	GH02I067450	67450711	67452574	0.7	[{'connected_gene': 'ETAA1', 'score': 7.36}, {'connected_gene': 'LINC01829', 'score': 4.83}, {'connected_gene': 'GC02M067411', 'score': 0.26}, {'connected_gene': 'PIR56294', 'score': 0.23}]
chr2	GH02I067671	67671689	67672030	0.7	[{'connected_gene': 'ETAA1', 'score': 23.84}, {'connected_gene': 'WDR92', 'score': 12.27}, {'connected_gene': 'GC02M067667', 'score': 0.77}, {'connected_gene': 'ENSG00000235495', 'score': 0.39}, {'connected_gene': 'GC02P067636', 'score': 0.28}]
chr2	GH02I067308	67308794	67309976	0.86	[{'connected_gene': 'ETAA1', 'score': 4.65}, {'connected_gene': 'ENSG00000236605', 'score': 0.37}, {'connected_gene': 'GC02P067286', 'score': 0.34}, {'connected_gene': 'LINC01828', 'score': 0.07}]
chr2	GH02I067288	67288103	67292025	1.07	[{'connected_gene': 'ETAA1', 'score': 11.18}, {'connected_gene': 'GC02P067286', 'score': 0.77}, {'connected_gene': 'ENSG00000236605', 'score': 0.29}, {'connected_gene': 'LINC01828', 'score': 0.08}]
chr2	GH02I067462	67462627	67465090	1.28	[{'connected_gene': 'ETAA1', 'score': 7.18}, {'connected_gene': 'PIR56294', 'score': 0.26}, {'connected_gene': 'GC02M067411', 'score': 0.23}]
chr2	GH02I067445	67445953	67447427	0.73	[{'connected_gene': 'ETAA1', 'score': 7.76}, {'connected_gene': 'GC02M067411', 'score': 0.28}, {'connected_gene': 'PIR56294', 'score': 0.22}]
chr2	GH02I067331	67331241	67333215	0.46	[{'connected_gene': 'ETAA1', 'score': 14.7}, {'connected_gene': 'ENSG00000236605', 'score': 0.44}, {'connected_gene': 'GC02M067333', 'score': 0.44}]
chr2	GH02I067396	67396604	67402359	2.57	[{'connected_gene': 'ETAA1', 'score': 568.04}, {'connected_gene': 'GC02M067411', 'score': 0.39}]
chr2	GH02I066430	66430540	66448896	2.8	[{'connected_gene': 'MEIS1', 'score': 550.44}, {'connected_gene': 'ETAA1', 'score': 37.2}, {'connected_gene': 'MEIS1-AS3', 'score': 25.81}, {'connected_gene': 'MEIS1-AS2', 'score': 0.77}]
chr2	GH02I067322	67322397	67323398	0.64	[{'connected_gene': 'ENSG00000236605', 'score': 550.77}, {'connected_gene': 'ETAA1', 'score': 10.33}, {'connected_gene': 'GC02P067286', 'score': 0.28}]
chr2	GH02I067502	67502079	67504201	0.74	[{'connected_gene': 'PIR56294', 'score': 550.77}, {'connected_gene': 'ETAA1', 'score': 6.76}, {'connected_gene': 'GC02M067411', 'score': 0.16}]
chr2	GH02I067388	67388615	67390584	0.69	[{'connected_gene': 'GC02P067391', 'score': 550.77}, {'connected_gene': 'GC02P067389', 'score': 550.77}, {'connected_gene': 'ETAA1', 'score': 16.05}]