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
ENST00000342315	[[113416199, 113416590], [113424842, 113425113], [113433100, 113433279], [113435324, 113435560], [113436070, 113436215], [113440736, 113440907], [113442738, 113443027], [113444217, 113444405], [113445509, 113445748], [113446891, 113447045], [113448178, 113449528]]	[[113416413, 113416590], [113424842, 113425113], [113433100, 113433279], [113435324, 113435560], [113436070, 113436215], [113440736, 113440907], [113442738, 113443027], [113444217, 113444405], [113445509, 113445748], [113446891, 113447045], [113448178, 113448289]]
ENST00000392583	[[113416206, 113416590], [113424842, 113425113], [113433100, 113433279], [113435324, 113435560], [113436070, 113436215], [113440736, 113440907], [113442738, 113443027], [113444217, 113444405], [113445509, 113445748], [113446891, 113449523]]	[[113416413, 113416590], [113424842, 113425113], [113433100, 113433279], [113435324, 113435560], [113436070, 113436215], [113440736, 113440907], [113442738, 113443027], [113444217, 113444405], [113445509, 113445748], [113446891, 113447060]]
ENST00000449768	[[113416286, 113416590], [113424842, 113426610]]	[[113416413, 113416590], [113424842, 113425184]]
ENST00000552756	[[113416344, 113416590], [113424842, 113424888], [113433100, 113433279], [113435324, 113435560], [113436070, 113436215], [113440736, 113440763]]	[[113416413, 113416590], [113424842, 113424888], [113433100, 113433279], [113435324, 113435560], [113436070, 113436215], [113440736, 113440763]]
ENST00000551603	[[113416406, 113416590], [113433100, 113433279], [113435324, 113435560], [113436070, 113436215]]	[[113416413, 113416590], [113433100, 113433106]]
ENST00000548941	[[113436049, 113436215], [113440736, 113440907], [113442738, 113442922]]	None
NM_001032731	[[113416273, 113416590], [113424842, 113426610]]	[[113416413, 113416590], [113424842, 113425184]]
NM_002535	[[113416273, 113416590], [113424842, 113425113], [113433100, 113433279], [113435324, 113435560], [113436070, 113436215], [113440736, 113440907], [113442738, 113443027], [113444217, 113444405], [113445509, 113445748], [113446891, 113448503]]	[[113416413, 113416590], [113424842, 113425113], [113433100, 113433279], [113435324, 113435560], [113436070, 113436215], [113440736, 113440907], [113442738, 113443027], [113444217, 113444405], [113445509, 113445748], [113446891, 113447060]]
NM_016817	[[113416273, 113416590], [113424842, 113425113], [113433100, 113433279], [113435324, 113435560], [113436070, 113436215], [113440736, 113440907], [113442738, 113443027], [113444217, 113444405], [113445509, 113445748], [113446891, 113447045], [113448178, 113449528]]	[[113416413, 113416590], [113424842, 113425113], [113433100, 113433279], [113435324, 113435560], [113436070, 113436215], [113440736, 113440907], [113442738, 113443027], [113444217, 113444405], [113445509, 113445748], [113446891, 113447045], [113448178, 113448289]]

Promoter

Chrom	Start	End	Description
chr12	113416191	113416202	CAGE_peak_6_at_OAS2_5end
chr12	113416240	113416251	CAGE_peak_5_at_OAS2_5end
chr12	113416265	113416287	CAGE_peak_3_at_OAS2_5end
chr12	113416311	113416336	CAGE_peak_2_at_OAS2_5end
chr12	113416340	113416363	CAGE_peak_4_at_OAS2_5end
chr12	113416367	113416393	CAGE_peak_1_at_OAS2_5end
chr12	113448406	113448411	CAGE_peak_14_at_OAS2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I113213	113213828	113216284	1.62	[{'connected_gene': 'RITA1', 'score': 11.49}, {'connected_gene': 'SDSL', 'score': 11.4}, {'connected_gene': 'SLC8B1', 'score': 6.25}, {'connected_gene': 'TPCN1', 'score': 1.98}, {'connected_gene': 'OAS2', 'score': 1.45}, {'connected_gene': 'OAS3', 'score': 1.39}, {'connected_gene': 'OAS1', 'score': 1.27}, {'connected_gene': 'IQCD', 'score': 0.44}, {'connected_gene': 'PIR59579', 'score': 0.44}]
chr12	GH12I112976	112976522	112981639	2.07	[{'connected_gene': 'OAS2', 'score': 566.9}, {'connected_gene': 'GC12M112972', 'score': 550.77}, {'connected_gene': 'OAS3', 'score': 41.63}, {'connected_gene': 'DTX1', 'score': 11.33}, {'connected_gene': 'OAS1', 'score': 6.12}, {'connected_gene': 'SLC8B1', 'score': 3.04}, {'connected_gene': 'SDSL', 'score': 2.45}, {'connected_gene': 'GC12M112984', 'score': 0.44}, {'connected_gene': 'ENSG00000257452', 'score': 0.28}]
chr12	GH12I113141	113141449	113143564	1.14	[{'connected_gene': 'SDSL', 'score': 20.77}, {'connected_gene': 'RASAL1', 'score': 13.64}, {'connected_gene': 'SLC8B1', 'score': 9.17}, {'connected_gene': 'CFAP73', 'score': 5.07}, {'connected_gene': 'OAS2', 'score': 3.74}, {'connected_gene': 'OAS3', 'score': 3.47}, {'connected_gene': 'OAS1', 'score': 3.11}, {'connected_gene': 'SDS', 'score': 1.42}]
chr12	GH12I113417	113417937	113418888	1.32	[{'connected_gene': 'SDSL', 'score': 31.31}, {'connected_gene': 'PLBD2', 'score': 10.94}, {'connected_gene': 'SLC8B1', 'score': 9.69}, {'connected_gene': 'SDS', 'score': 1.9}, {'connected_gene': 'OAS2', 'score': 1.56}, {'connected_gene': 'OAS3', 'score': 1.42}, {'connected_gene': 'LOC105369989', 'score': 0.22}]
chr12	GH12I113039	113039973	113041603	1.12	[{'connected_gene': 'ENSG00000201208', 'score': 11.35}, {'connected_gene': 'RITA1', 'score': 11.34}, {'connected_gene': 'DDX54', 'score': 11.34}, {'connected_gene': 'OAS3', 'score': 5.52}, {'connected_gene': 'ENSG00000257452', 'score': 5.34}, {'connected_gene': 'SDSL', 'score': 4.95}, {'connected_gene': 'DTX1', 'score': 4.94}, {'connected_gene': 'SLC8B1', 'score': 2.98}, {'connected_gene': 'OAS2', 'score': 2.54}, {'connected_gene': 'OAS1', 'score': 1.3}, {'connected_gene': 'RPS15AP32', 'score': 0.39}]
chr12	GH12I112992	112992746	112993359	0.74	[{'connected_gene': 'GC12M112989', 'score': 550.77}, {'connected_gene': 'OAS3', 'score': 25.62}, {'connected_gene': 'ENSG00000201208', 'score': 10.35}, {'connected_gene': 'RITA1', 'score': 10.35}, {'connected_gene': 'DDX54', 'score': 10.35}, {'connected_gene': 'GC12M112995', 'score': 0.77}, {'connected_gene': 'ENSG00000257452', 'score': 0.34}, {'connected_gene': 'OAS2', 'score': 0.34}]
chr12	GH12I112988	112988316	112988465	0.38	[{'connected_gene': 'GC12M112984', 'score': 550.77}, {'connected_gene': 'OAS3', 'score': 11.04}, {'connected_gene': 'ENSG00000201208', 'score': 10.35}, {'connected_gene': 'DDX54', 'score': 10.35}, {'connected_gene': 'RITA1', 'score': 10.35}, {'connected_gene': 'GC12M112989', 'score': 0.77}, {'connected_gene': 'OAS2', 'score': 0.37}, {'connected_gene': 'ENSG00000257452', 'score': 0.31}]
chr12	GH12I112597	112597854	112598295	0.47	[{'connected_gene': 'GC12M112589', 'score': 550.77}, {'connected_gene': 'RPH3A', 'score': 12.48}, {'connected_gene': 'OAS2', 'score': 8.71}, {'connected_gene': 'OAS3', 'score': 6.5}, {'connected_gene': 'OAS1', 'score': 4.01}, {'connected_gene': 'TRAFD1', 'score': 1.16}, {'connected_gene': 'GC12P112594', 'score': 0.77}, {'connected_gene': 'PIR44714', 'score': 0.77}]
chr12	GH12I112599	112599882	112600277	1.16	[{'connected_gene': 'GC12M112589', 'score': 550.77}, {'connected_gene': 'RPH3A', 'score': 12.48}, {'connected_gene': 'OAS2', 'score': 8.56}, {'connected_gene': 'OAS3', 'score': 6.62}, {'connected_gene': 'OAS1', 'score': 4.24}, {'connected_gene': 'GC12P112610', 'score': 0.39}]
chr12	GH12I113270	113270881	113273195	1.51	[{'connected_gene': 'GC12M113256', 'score': 550.77}, {'connected_gene': 'SDSL', 'score': 19.16}, {'connected_gene': 'RASAL1', 'score': 13.23}, {'connected_gene': 'RITA1', 'score': 11.9}, {'connected_gene': 'SLC8B1', 'score': 10.88}, {'connected_gene': 'RBM19', 'score': 9.7}, {'connected_gene': 'OAS2', 'score': 3.59}, {'connected_gene': 'OAS3', 'score': 3.12}, {'connected_gene': 'OAS1', 'score': 2.39}, {'connected_gene': 'PLBD2', 'score': 1.53}, {'connected_gene': 'SDS', 'score': 1.28}, {'connected_gene': 'GC12P113288', 'score': 0.37}, {'connected_gene': 'TPCN1', 'score': 0.23}]