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
ENST00000215570	[[2425621, 2427044], [2427253, 2427322], [2427411, 2427892]]	[[2426945, 2427044], [2427253, 2427322], [2427411, 2427531]]
ENST00000591871	[[2426562, 2427044], [2427253, 2427322], [2427456, 2427536]]	[[2426945, 2427044], [2427253, 2427322], [2427456, 2427531]]
NM_012458	[[2425621, 2427044], [2427253, 2427322], [2427411, 2427914]]	[[2426945, 2427044], [2427253, 2427322], [2427411, 2427531]]

Promoter

Chrom	Start	End	Description
chr19	2427539	2427591	CAGE_peak_1_at_TIMM13_5end
chr19	2427863	2427915	CAGE_peak_2_at_TIMM13_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I002454	2454324	2457849	1.97	[{'connected_gene': 'LMNB2', 'score': 550.77}, {'connected_gene': 'TMPRSS9', 'score': 14.16}, {'connected_gene': 'TIMM13', 'score': 11.85}, {'connected_gene': 'ENSG00000267214', 'score': 5.46}, {'connected_gene': 'GC19P002446', 'score': 0.44}]
chr19	GH19I002474	2474600	2480246	2.56	[{'connected_gene': 'GADD45B', 'score': 566.83}, {'connected_gene': 'GC19P002477', 'score': 550.77}, {'connected_gene': 'SF3A2', 'score': 39.53}, {'connected_gene': 'TCF3', 'score': 27.09}, {'connected_gene': 'LOC100288123', 'score': 23.31}, {'connected_gene': 'ZNF77', 'score': 19.37}, {'connected_gene': 'ZNF554', 'score': 13.67}, {'connected_gene': 'ENSG00000267139', 'score': 11.9}, {'connected_gene': 'MBD3', 'score': 10.3}, {'connected_gene': 'ENSG00000267283', 'score': 10.27}, {'connected_gene': 'DOT1L', 'score': 6.89}, {'connected_gene': 'TIMM13', 'score': 6.12}, {'connected_gene': 'LOC101928631', 'score': 5.15}, {'connected_gene': 'AMH', 'score': 4.7}, {'connected_gene': 'GC19P002483', 'score': 0.44}]
chr19	GH19I002452	2452712	2453347	0.52	[{'connected_gene': 'TMPRSS9', 'score': 12.65}, {'connected_gene': 'TIMM13', 'score': 7.31}, {'connected_gene': 'REXO1', 'score': 5.0}, {'connected_gene': 'LMNB2', 'score': 0.77}, {'connected_gene': 'GC19P002446', 'score': 0.44}]
chr19	GH19I002422	2422740	2429582	2.08	[{'connected_gene': 'TIMM13', 'score': 577.39}, {'connected_gene': 'PIR39105', 'score': 550.77}, {'connected_gene': 'PIR60720', 'score': 550.77}, {'connected_gene': 'TMPRSS9', 'score': 22.02}, {'connected_gene': 'RPS15', 'score': 11.16}, {'connected_gene': 'SF3A2', 'score': 10.92}, {'connected_gene': 'SCAMP4', 'score': 4.66}, {'connected_gene': 'LMNB2', 'score': 0.29}]
chr19	GH19I002393	2393929	2396542	1.33	[{'connected_gene': 'TIMM13', 'score': 9.72}, {'connected_gene': 'TMPRSS9', 'score': 9.4}, {'connected_gene': 'SPPL2B', 'score': 7.56}, {'connected_gene': 'DOT1L', 'score': 2.1}, {'connected_gene': 'CSNK1G2', 'score': 1.63}, {'connected_gene': 'PIR50739', 'score': 0.77}, {'connected_gene': 'GC19P002378', 'score': 0.37}, {'connected_gene': 'PIR39105', 'score': 0.29}]
chr19	GH19I002461	2461195	2463792	1.77	[{'connected_gene': 'LINC01775', 'score': 550.77}, {'connected_gene': 'GNA11', 'score': 21.99}, {'connected_gene': 'ZNF555', 'score': 21.18}, {'connected_gene': 'ZNF554', 'score': 20.48}, {'connected_gene': 'SF3A2', 'score': 18.91}, {'connected_gene': 'TCF3', 'score': 17.04}, {'connected_gene': 'LOC100288123', 'score': 15.5}, {'connected_gene': 'ZNF77', 'score': 12.79}, {'connected_gene': 'TIMM13', 'score': 12.4}, {'connected_gene': 'TLE2', 'score': 12.02}, {'connected_gene': 'ATP8B3', 'score': 11.96}, {'connected_gene': 'CSNK1G2', 'score': 11.2}, {'connected_gene': 'DOT1L', 'score': 10.81}, {'connected_gene': 'SPPL2B', 'score': 10.31}, {'connected_gene': 'GADD45B', 'score': 0.39}]
chr19	GH19I002288	2288541	2290648	1.61	[{'connected_gene': 'GC19M002288', 'score': 550.77}, {'connected_gene': 'ZNF77', 'score': 14.07}, {'connected_gene': 'AP3D1', 'score': 11.86}, {'connected_gene': 'MUM1', 'score': 10.88}, {'connected_gene': 'SPPL2B', 'score': 10.79}, {'connected_gene': 'LSM7', 'score': 10.45}, {'connected_gene': 'ZNF555', 'score': 10.4}, {'connected_gene': 'ENSG00000261526', 'score': 10.07}, {'connected_gene': 'TIMM13', 'score': 6.53}, {'connected_gene': 'ABHD17A', 'score': 5.31}, {'connected_gene': 'LOC101928572', 'score': 0.39}, {'connected_gene': 'LINGO3', 'score': 0.37}, {'connected_gene': 'ENSG00000273734', 'score': 0.34}]
chr19	GH19I002539	2539443	2548068	1.77	[{'connected_gene': 'PIR51282', 'score': 550.77}, {'connected_gene': 'GADD45B', 'score': 11.62}, {'connected_gene': 'DOT1L', 'score': 3.84}, {'connected_gene': 'TIMM13', 'score': 1.35}, {'connected_gene': 'GNG7', 'score': 1.33}, {'connected_gene': 'GC19P002552', 'score': 0.44}, {'connected_gene': 'GC19P002551', 'score': 0.44}]
chr19	GH19I002446	2446144	2447888	0.72	[{'connected_gene': 'GC19P002446', 'score': 550.77}, {'connected_gene': 'TMPRSS9', 'score': 17.63}, {'connected_gene': 'TIMM13', 'score': 12.56}, {'connected_gene': 'LMNB2', 'score': 0.44}]
chr19	GH19I002391	2391235	2391572	1.03	[{'connected_gene': 'PIR50739', 'score': 550.77}, {'connected_gene': 'TIMM13', 'score': 4.81}, {'connected_gene': 'TMPRSS9', 'score': 0.44}, {'connected_gene': 'GC19P002378', 'score': 0.39}]
chr19	GH19I002487	2487749	2490071	1.38	[{'connected_gene': 'GC19P002492', 'score': 550.77}, {'connected_gene': 'ATP8B3', 'score': 5.37}, {'connected_gene': 'BTBD2', 'score': 4.1}, {'connected_gene': 'MOB3A', 'score': 2.35}, {'connected_gene': 'PLEKHJ1', 'score': 2.16}, {'connected_gene': 'TIMM13', 'score': 1.83}, {'connected_gene': 'SGTA', 'score': 1.7}, {'connected_gene': 'SF3A2', 'score': 1.4}, {'connected_gene': 'PIR42747', 'score': 0.77}]