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
ENST00000545990	[[4724673, 4725060], [4735661, 4737971], [4747266, 4747362], [4751064, 4751170], [4754220, 4754358], [4757932, 4758213]]	[[4724904, 4725060], [4735661, 4737971], [4747266, 4747362]]
ENST00000228850	[[4724676, 4725060], [4735661, 4737971], [4747266, 4747362], [4751064, 4751170], [4754220, 4754343]]	[[4724904, 4725060], [4735661, 4737971], [4747266, 4747362]]
ENST00000540967	[[4737582, 4737971], [4747266, 4747362], [4754220, 4754366]]	[[4737582, 4737971], [4747266, 4747362]]
ENST00000536414	[[4737777, 4737971], [4747266, 4747362], [4751064, 4751199], [4754220, 4754323]]	[[4737777, 4737971], [4747266, 4747362]]
ENST00000541484	[[4751064, 4751170], [4754220, 4754358], [4757910, 4758213]]	None
ENST00000544636	[[4751151, 4751170], [4757619, 4758174]]	None
NM_001278309	[[4724673, 4725060], [4735661, 4737971], [4747266, 4747362], [4751064, 4751170], [4754220, 4754358], [4757910, 4758213]]	[[4724904, 4725060], [4735661, 4737971], [4747266, 4747362]]
NM_006422	[[4724673, 4725060], [4735661, 4737971], [4747266, 4747362], [4751064, 4751170], [4754220, 4754358], [4757932, 4758213]]	[[4724904, 4725060], [4735661, 4737971], [4747266, 4747362]]

Promoter

Chrom	Start	End	Description
chr12	4737827	4737861	CAGE_peak_5_at_AKAP3_5end
chr12	4754318	4754331	CAGE_peak_2_at_AKAP3_5end
chr12	4754339	4754348	CAGE_peak_4_at_AKAP3_5end
chr12	4754356	4754374	CAGE_peak_3_at_AKAP3_5end
chr12	4758159	4758232	CAGE_peak_1_at_AKAP3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I004561	4561575	4562799	1.33	[{'connected_gene': 'DYRK4', 'score': 550.77}, {'connected_gene': 'RAD51AP1', 'score': 10.62}, {'connected_gene': 'C12orf4', 'score': 10.62}, {'connected_gene': 'AKAP3', 'score': 5.55}, {'connected_gene': 'GC12M004550', 'score': 0.44}]
chr12	GH12I004590	4590029	4590088	0.5	[{'connected_gene': 'DYRK4', 'score': 550.31}, {'connected_gene': 'AKAP3', 'score': 13.58}, {'connected_gene': 'LOC103568124', 'score': 0.39}]
chr12	GH12I004699	4699859	4702516	0.2	[{'connected_gene': 'GALNT8', 'score': 5.5}, {'connected_gene': 'AKAP3', 'score': 5.5}, {'connected_gene': 'DYRK4', 'score': 5.21}, {'connected_gene': 'LOC101929549', 'score': 0.37}, {'connected_gene': 'ENSG00000255639', 'score': 0.26}]
chr12	GH12I004587	4587255	4587404	0.31	[{'connected_gene': 'RAD51AP1', 'score': 11.06}, {'connected_gene': 'C12orf4', 'score': 11.06}, {'connected_gene': 'DYRK4', 'score': 10.92}, {'connected_gene': 'GALNT8', 'score': 10.83}, {'connected_gene': 'LOC101929549', 'score': 10.83}, {'connected_gene': 'AKAP3', 'score': 10.72}, {'connected_gene': 'NDUFA9', 'score': 10.72}, {'connected_gene': 'LOC103568124', 'score': 0.37}]
chr12	GH12I004568	4568801	4569400	0.2	[{'connected_gene': 'RAD51AP1', 'score': 11.78}, {'connected_gene': 'C12orf4', 'score': 11.78}, {'connected_gene': 'LOC103568124', 'score': 10.65}, {'connected_gene': 'NDUFA9', 'score': 10.54}, {'connected_gene': 'AKAP3', 'score': 10.12}, {'connected_gene': 'DYRK4', 'score': 0.44}]
chr12	GH12I004647	4647860	4650244	1.99	[{'connected_gene': 'AKAP3', 'score': 591.17}, {'connected_gene': 'GC12P005656', 'score': 550.77}, {'connected_gene': 'NDUFA9', 'score': 550.77}, {'connected_gene': 'LOC103568124', 'score': 10.85}, {'connected_gene': 'GALNT8', 'score': 10.82}, {'connected_gene': 'LOC101929549', 'score': 10.82}, {'connected_gene': 'DYRK4', 'score': 10.77}, {'connected_gene': 'LOC100420673', 'score': 10.73}, {'connected_gene': 'ENSG00000256381', 'score': 0.77}, {'connected_gene': 'ENSG00000272921', 'score': 0.26}]
chr12	GH12I004564	4564601	4568784	0.8	[{'connected_gene': 'AKAP3', 'score': 15.95}, {'connected_gene': 'RAD51AP1', 'score': 11.8}, {'connected_gene': 'C12orf4', 'score': 11.8}, {'connected_gene': 'LOC103568124', 'score': 10.97}, {'connected_gene': 'NDUFA9', 'score': 10.87}, {'connected_gene': 'TIGAR', 'score': 5.33}, {'connected_gene': 'DYRK4', 'score': 0.77}]
chr12	GH12I004661	4661006	4661247	0.38	[{'connected_gene': 'AKAP3', 'score': 17.07}, {'connected_gene': 'LOC103568124', 'score': 11.02}, {'connected_gene': 'DYRK4', 'score': 10.95}, {'connected_gene': 'GALNT8', 'score': 10.79}, {'connected_gene': 'LOC101929549', 'score': 10.79}, {'connected_gene': 'C12orf4', 'score': 10.24}, {'connected_gene': 'RAD51AP1', 'score': 10.24}, {'connected_gene': 'ENSG00000255639', 'score': 0.77}, {'connected_gene': 'GC12P005656', 'score': 0.39}, {'connected_gene': 'NDUFA9', 'score': 0.39}, {'connected_gene': 'ENSG00000272921', 'score': 0.22}]
chr12	GH12I004645	4645147	4645206	0.73	[{'connected_gene': 'AKAP3', 'score': 550.77}, {'connected_gene': 'ENSG00000256381', 'score': 550.77}, {'connected_gene': 'LOC100420673', 'score': 0.44}, {'connected_gene': 'ENSG00000272921', 'score': 0.26}]