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
ENST00000324460	[[127997131, 127999433], [128000419, 128000587], [128000868, 128001106], [128001219, 128001610], [128001699, 128001812], [128002450, 128002588], [128002954, 128003186], [128003283, 128003609]]	[[127998870, 127999433], [128000419, 128000587], [128000868, 128001106], [128001219, 128001610], [128001699, 128001812], [128002450, 128002588], [128002954, 128003186], [128003283, 128003405]]
NM_005347	[[127997126, 127999433], [128000419, 128000587], [128000868, 128001106], [128001219, 128001610], [128001699, 128001812], [128002450, 128002588], [128002954, 128003186], [128003283, 128003666]]	[[127998870, 127999433], [128000419, 128000587], [128000868, 128001106], [128001219, 128001610], [128001699, 128001812], [128002450, 128002588], [128002954, 128003186], [128003283, 128003405]]

Promoter

Chrom	Start	End	Description
chr9	128001352	128001372	CAGE_peak_6_at_HSPA5_5end
chr9	128001754	128001817	CAGE_peak_2_at_HSPA5_5end
chr9	128003606	128003631	CAGE_peak_1_at_HSPA5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I125630	125630888	125634968	2.25	[{'connected_gene': 'PBX3', 'score': 6.38}, {'connected_gene': 'HSPA5', 'score': 2.0}, {'connected_gene': 'PPP6C', 'score': 1.59}, {'connected_gene': 'GAPVD1', 'score': 1.13}, {'connected_gene': 'HNRNPA1P15', 'score': 0.28}, {'connected_gene': 'MAPKAP1', 'score': 0.19}]
chr9	GH09I125238	125238117	125244755	2.29	[{'connected_gene': 'GAPVD1', 'score': 589.95}, {'connected_gene': 'HSPA5', 'score': 550.77}, {'connected_gene': 'GC09M125241', 'score': 550.77}, {'connected_gene': 'ENSG00000239705', 'score': 550.77}, {'connected_gene': 'GOLGA1', 'score': 22.95}, {'connected_gene': 'PRPS1P2', 'score': 22.57}, {'connected_gene': 'RABEPK', 'score': 14.15}, {'connected_gene': 'RPL35', 'score': 9.67}, {'connected_gene': 'OLFML2A', 'score': 4.32}]
chr9	GH09I125659	125659227	125660746	1.37	[{'connected_gene': 'RNU6-1020P', 'score': 9.35}, {'connected_gene': 'GAPVD1', 'score': 9.34}, {'connected_gene': 'HSPA5', 'score': 1.19}, {'connected_gene': 'MAPKAP1', 'score': 0.25}, {'connected_gene': 'HNRNPA1P15', 'score': 0.21}]
chr9	GH09I125233	125233092	125235169	0.87	[{'connected_gene': 'RABEPK', 'score': 16.4}, {'connected_gene': 'SCAI', 'score': 7.17}, {'connected_gene': 'MIR181A2HG', 'score': 5.66}, {'connected_gene': 'PRPS1P2', 'score': 5.1}, {'connected_gene': 'GC09M125241', 'score': 0.44}, {'connected_gene': 'HSPA5', 'score': 0.44}]
chr9	GH09I125236	125236167	125237472	0.49	[{'connected_gene': 'GC09M125241', 'score': 0.77}, {'connected_gene': 'HSPA5', 'score': 0.77}, {'connected_gene': 'RABEPK', 'score': 0.28}]
chr9	GH09I125237	125235862	125236011	0.49	[{'connected_gene': 'GC09M125241', 'score': 0.44}, {'connected_gene': 'HSPA5', 'score': 0.44}, {'connected_gene': 'RABEPK', 'score': 0.28}]
chr9	GH09I125235	125235562	125235731	0.6	[{'connected_gene': 'GC09M125241', 'score': 0.44}, {'connected_gene': 'HSPA5', 'score': 0.44}, {'connected_gene': 'RABEPK', 'score': 0.28}]