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
ENST00000179259	[[4430370, 4430469], [4440445, 4440483], [4446204, 4446326], [4458984, 4459062], [4460432, 4460543], [4461425, 4462338]]	[[4430437, 4430469], [4440445, 4440483], [4446204, 4446326], [4458984, 4459062], [4460432, 4460543], [4461425, 4461857]]
ENST00000537251	[[4444698, 4444817], [4446204, 4446326], [4458984, 4459062], [4460432, 4460543], [4461425, 4461522]]	None
ENST00000539671	[[4433808, 4433929], [4440445, 4440484]]	None
NM_020375	[[4430358, 4430469], [4440445, 4440483], [4446204, 4446326], [4458984, 4459062], [4460432, 4460543], [4461425, 4469194]]	[[4430437, 4430469], [4440445, 4440483], [4446204, 4446326], [4458984, 4459062], [4460432, 4460543], [4461425, 4461857]]

Promoter

Chrom	Start	End	Description
chr12	4430372	4430429	CAGE_peak_1_at_C12orf5_5end
chr12	4433835	4433850	CAGE_peak_3_at_C12orf5_5end
chr12	4433856	4433869	CAGE_peak_4_at_C12orf5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I004268	4268440	4281853	2.83	[{'connected_gene': 'CCND2', 'score': 554.83}, {'connected_gene': 'CCND2-AS1', 'score': 550.77}, {'connected_gene': 'ENSG00000255920', 'score': 550.77}, {'connected_gene': 'GC12P005516', 'score': 550.77}, {'connected_gene': 'PARP11', 'score': 9.75}, {'connected_gene': 'C12orf4', 'score': 1.99}, {'connected_gene': 'TIGAR', 'score': 1.41}]
chr12	GH12I004305	4305294	4306148	0.31	[{'connected_gene': 'FGF23', 'score': 11.04}, {'connected_gene': 'TIGAR', 'score': 0.77}, {'connected_gene': 'PIR44232', 'score': 0.77}, {'connected_gene': 'CCND2', 'score': 0.29}]
chr12	GH12I004356	4356015	4356204	0.56	[{'connected_gene': 'FGF23', 'score': 0.34}, {'connected_gene': 'RPS15P7', 'score': 0.29}, {'connected_gene': 'TIGAR', 'score': 0.25}]
chr12	GH12I004450	4449291	4451636	0.59	[{'connected_gene': 'TIGAR', 'score': 7.34}, {'connected_gene': 'FGF6', 'score': 0.77}, {'connected_gene': 'C12orf4', 'score': 0.17}]
chr12	GH12I004306	4306470	4309143	1.23	[{'connected_gene': 'TIGAR', 'score': 550.77}, {'connected_gene': 'RPS15P7', 'score': 0.37}]
chr12	GH12I004320	4320201	4322415	2.02	[{'connected_gene': 'TIGAR', 'score': 557.65}, {'connected_gene': 'RPS15P7', 'score': 0.77}]
chr12	GH12I004339	4339177	4339554	0.24	[{'connected_gene': 'PARP11', 'score': 2.54}, {'connected_gene': 'TIGAR', 'score': 2.35}, {'connected_gene': 'CCND2', 'score': 1.49}, {'connected_gene': 'RPS15P7', 'score': 0.39}, {'connected_gene': 'FGF23', 'score': 0.26}]
chr12	GH12I004506	4506311	4508121	0.75	[{'connected_gene': 'FGF6', 'score': 11.39}, {'connected_gene': 'FGF23', 'score': 11.09}, {'connected_gene': 'RAD51AP1', 'score': 10.84}, {'connected_gene': 'C12orf4', 'score': 10.84}, {'connected_gene': 'TIGAR', 'score': 5.21}]
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	GH12I004323	4323515	4323664	0.38	[{'connected_gene': 'RPS15P7', 'score': 550.77}, {'connected_gene': 'TIGAR', 'score': 0.37}]
chr12	GH12I004322	4322895	4323044	0.31	[{'connected_gene': 'RPS15P7', 'score': 550.77}, {'connected_gene': 'TIGAR', 'score': 0.37}]
chr12	GH12I004324	4323144	4323426	0.38	[{'connected_gene': 'RPS15P7', 'score': 550.77}, {'connected_gene': 'TIGAR', 'score': 5.25}]
chr12	GH12I004302	4302464	4304244	0.58	[{'connected_gene': 'PIR44232', 'score': 550.77}, {'connected_gene': 'FGF23', 'score': 11.03}, {'connected_gene': 'TIGAR', 'score': 0.77}, {'connected_gene': 'CCND2', 'score': 0.31}]