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
ENST00000228928	[[113376156, 113376512], [113379374, 113379657], [113382280, 113382456], [113384547, 113384786], [113385750, 113385904], [113386665, 113387010], [113388497, 113388780], [113398875, 113399051], [113400456, 113400707], [113401117, 113401262], [113402039, 113402213], [113403548, 113403834], [113405222, 113405398], [113405740, 113405979], [113407412, 113407560], [113407766, 113411054]]	[[113376335, 113376512], [113379374, 113379657], [113382280, 113382456], [113384547, 113384786], [113385750, 113385904], [113386665, 113387010], [113388497, 113388780], [113398875, 113399051], [113400456, 113400707], [113401117, 113401262], [113402039, 113402213], [113403548, 113403834], [113405222, 113405398], [113405740, 113405979], [113407412, 113407560], [113407766, 113407778]]
ENST00000551007	[[113376248, 113376512], [113379374, 113380108]]	[[113376335, 113376512], [113379374, 113379731]]
ENST00000548514	[[113376264, 113376512], [113379374, 113379657], [113382280, 113383141]]	[[113376335, 113376512], [113379374, 113379657], [113382280, 113382492]]
ENST00000546638	[[113376350, 113376512], [113382280, 113382456], [113384547, 113384784]]	None
ENST00000546800	[[113388377, 113388780], [113398875, 113399029]]	None
ENST00000546973	[[113402142, 113402213], [113403701, 113403834], [113405222, 113405398], [113405740, 113405859]]	[[113402142, 113402213], [113403701, 113403834], [113405222, 113405398], [113405740, 113405859]]
ENST00000549918	[[113407136, 113407560], [113407766, 113408510]]	None
NM_006187	[[113376237, 113376512], [113379374, 113379657], [113382280, 113382456], [113384547, 113384786], [113385750, 113385904], [113386665, 113387010], [113388497, 113388780], [113398875, 113399051], [113400456, 113400707], [113401117, 113401262], [113402039, 113402213], [113403548, 113403834], [113405222, 113405398], [113405740, 113405979], [113407412, 113407560], [113407766, 113411054]]	[[113376335, 113376512], [113379374, 113379657], [113382280, 113382456], [113384547, 113384786], [113385750, 113385904], [113386665, 113387010], [113388497, 113388780], [113398875, 113399051], [113400456, 113400707], [113401117, 113401262], [113402039, 113402213], [113403548, 113403834], [113405222, 113405398], [113405740, 113405979], [113407412, 113407560], [113407766, 113407778]]

Promoter

Chrom	Start	End	Description
chr12	113376191	113376212	CAGE_peak_2_at_OAS3_5end
chr12	113376261	113376324	CAGE_peak_1_at_OAS3_5end
chr12	113376330	113376350	CAGE_peak_3_at_OAS3_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	GH12I112848	112848096	112848225	0.2	[{'connected_gene': 'OAS3', 'score': 10.64}, {'connected_gene': 'OAS1', 'score': 10.56}, {'connected_gene': 'GC12M112858', 'score': 0.39}, {'connected_gene': 'GC12P112823', 'score': 0.34}, {'connected_gene': 'RPH3A', 'score': 0.06}]
chr12	GH12I112924	112924710	112927034	1.1	[{'connected_gene': 'OAS3', 'score': 38.67}, {'connected_gene': 'GC12M112917', 'score': 0.44}, {'connected_gene': 'OAS1', 'score': 0.37}, {'connected_gene': 'ENSG00000257452', 'score': 0.16}]
chr12	GH12I112791	112791476	112791625	0.69	[{'connected_gene': 'OAS3', 'score': 10.22}, {'connected_gene': 'GC12P112794', 'score': 0.77}, {'connected_gene': 'GC12M112716', 'score': 0.2}, {'connected_gene': 'RPH3A', 'score': 0.07}]
chr12	GH12I112870	112870736	112870885	0.31	[{'connected_gene': 'OAS3', 'score': 10.56}, {'connected_gene': 'GC12M112858', 'score': 0.44}, {'connected_gene': 'GC12P112883', 'score': 0.39}, {'connected_gene': 'RPH3A', 'score': 0.06}]
chr12	GH12I112936	112936307	112939345	1.97	[{'connected_gene': 'OAS3', 'score': 589.63}, {'connected_gene': 'TRAFD1', 'score': 9.96}, {'connected_gene': 'OAS1', 'score': 4.98}, {'connected_gene': 'GC12M112917', 'score': 0.77}, {'connected_gene': 'ENSG00000257452', 'score': 0.18}]
chr12	GH12I112939	112939396	112940430	0.69	[{'connected_gene': 'OAS3', 'score': 589.64}, {'connected_gene': 'GC12P112950', 'score': 0.39}, {'connected_gene': 'ENSG00000257452', 'score': 0.18}]
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	GH12I112794	112791699	112791758	0.99	[{'connected_gene': 'RPH3A', 'score': 550.07}, {'connected_gene': 'OAS3', 'score': 10.22}, {'connected_gene': 'GC12P112794', 'score': 0.77}, {'connected_gene': 'GC12M112716', 'score': 0.2}]
chr12	GH12I112793	112791892	112791951	0.76	[{'connected_gene': 'RPH3A', 'score': 550.07}, {'connected_gene': 'OAS3', 'score': 10.22}, {'connected_gene': 'GC12P112794', 'score': 0.77}, {'connected_gene': 'GC12M112716', 'score': 0.2}]
chr12	GH12I113056	113056063	113057205	1.35	[{'connected_gene': 'DTX1', 'score': 550.77}, {'connected_gene': 'OAS3', 'score': 4.43}, {'connected_gene': 'GC12M113048', 'score': 0.77}]
chr12	GH12I113031	113031076	113031205	0.72	[{'connected_gene': 'DTX1', 'score': 11.89}, {'connected_gene': 'OAS1', 'score': 11.69}, {'connected_gene': 'ENSG00000201208', 'score': 11.12}, {'connected_gene': 'DDX54', 'score': 11.11}, {'connected_gene': 'RITA1', 'score': 11.11}, {'connected_gene': 'CFAP73', 'score': 11.08}, {'connected_gene': 'OAS3', 'score': 11.0}, {'connected_gene': 'ENSG00000257452', 'score': 0.39}, {'connected_gene': 'RPS15AP32', 'score': 0.34}]
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	GH12I113062	113062141	113062864	1.09	[{'connected_gene': 'ENSG00000201208', 'score': 10.8}, {'connected_gene': 'DDX54', 'score': 10.8}, {'connected_gene': 'RITA1', 'score': 10.8}, {'connected_gene': 'OAS3', 'score': 4.24}, {'connected_gene': 'DTX1', 'score': 0.44}, {'connected_gene': 'GC12P113070', 'score': 0.44}]
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	GH12I112792	112792187	112792246	0.68	[{'connected_gene': 'GC12P112794', 'score': 550.77}, {'connected_gene': 'RPH3A', 'score': 550.07}, {'connected_gene': 'OAS3', 'score': 10.22}, {'connected_gene': 'GC12M112716', 'score': 0.2}]
chr12	GH12I112887	112887437	112888200	0.31	[{'connected_gene': 'GC12M112885', 'score': 550.77}, {'connected_gene': 'RPH3A', 'score': 45.64}, {'connected_gene': 'OAS3', 'score': 11.23}, {'connected_gene': 'GC12M112897', 'score': 0.37}]
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}]