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
ENST00000554791	[[54976529, 54976781], [54989171, 54989311], [55004439, 55004547], [55004780, 55004999]]	[[54976677, 54976781], [54989171, 54989311], [55004439, 55004471]]
ENST00000216420	[[54976545, 54976781], [54989171, 54989311], [54996766, 54996944], [54997620, 54997768], [55004439, 55004547], [55004780, 55005567]]	[[54976677, 54976781], [54989171, 54989311], [54996766, 54996944], [54997620, 54997768], [55004439, 55004547], [55004780, 55005101]]
ENST00000556216	[[54976619, 54976781], [54989171, 54989311], [54996766, 54997481], [54997620, 54997768], [55004439, 55004547], [55004780, 55005334]]	None
ENST00000557317	[[54976623, 54976781], [54989171, 54989311], [54989867, 54989963], [54996766, 54996944], [54997620, 54997716]]	[[54976677, 54976781], [54989171, 54989311], [54989867, 54989963], [54996766, 54996944], [54997620, 54997716]]
ENST00000557755	[[54976629, 54976781], [54996766, 54996944], [54997620, 54997768], [55004439, 55004547], [55004780, 55004816]]	[[54976677, 54976781], [54996766, 54996797]]
ENST00000557512	[[54976843, 54976985], [54989171, 54989311], [54996766, 54996944], [54997620, 54997768], [55004439, 55004547], [55004780, 55004965]]	None
ENST00000557184	[[54976902, 54976985], [54989171, 54989311], [54996766, 54996944], [54997620, 54997835]]	None
ENST00000557429	[[55002790, 55004547], [55004780, 55005332]]	None
ENST00000556172	[[55004439, 55004547], [55004835, 55005332]]	[[55004439, 55004547], [55004835, 55004949]]
NM_006568	[[54976586, 54976781], [54989171, 54989311], [54996766, 54996944], [54997620, 54997768], [55004439, 55004547], [55004780, 55005334]]	[[54976677, 54976781], [54989171, 54989311], [54996766, 54996944], [54997620, 54997768], [55004439, 55004547], [55004780, 55005101]]

Promoter

Chrom	Start	End	Description
chr14	54976575	54976602	CAGE_peak_2_at_CGRRF1_5end
chr14	54976603	54976676	CAGE_peak_1_at_CGRRF1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I054487	54487531	54491346	2.06	[{'connected_gene': 'GMFB', 'score': 550.77}, {'connected_gene': 'ATG14', 'score': 58.94}, {'connected_gene': 'BMP4', 'score': 49.13}, {'connected_gene': 'MAPK1IP1L', 'score': 26.53}, {'connected_gene': 'SOCS4', 'score': 22.61}, {'connected_gene': 'ENSG00000259318', 'score': 22.36}, {'connected_gene': 'CGRRF1', 'score': 11.85}, {'connected_gene': 'CNIH1', 'score': 11.05}, {'connected_gene': 'WDHD1', 'score': 9.89}, {'connected_gene': 'GC14P054145', 'score': 0.05}]
chr14	GH14I054502	54502686	54502963	0.73	[{'connected_gene': 'GCH1', 'score': 10.06}, {'connected_gene': 'GMFB', 'score': 8.77}, {'connected_gene': 'CGRRF1', 'score': 2.17}, {'connected_gene': 'GC14P054145', 'score': 0.05}]
chr14	GH14I054450	54450039	54452417	1.19	[{'connected_gene': 'GCH1', 'score': 7.78}, {'connected_gene': 'CNIH1', 'score': 5.56}, {'connected_gene': 'GMFB', 'score': 4.27}, {'connected_gene': 'CGRRF1', 'score': 1.89}, {'connected_gene': 'ENSG00000258753', 'score': 0.37}, {'connected_gene': 'GC14P054145', 'score': 0.06}]
chr14	GH14I054599	54599543	54601087	0.86	[{'connected_gene': 'SAMD4A', 'score': 11.7}, {'connected_gene': 'CGRRF1', 'score': 10.49}, {'connected_gene': 'LOC729451', 'score': 0.17}, {'connected_gene': 'GC14P054145', 'score': 0.05}]
chr14	GH14I054642	54642159	54644703	1.15	[{'connected_gene': 'SAMD4A', 'score': 16.48}, {'connected_gene': 'CGRRF1', 'score': 10.76}, {'connected_gene': 'LOC729451', 'score': 0.26}, {'connected_gene': 'GC14P054145', 'score': 0.04}]
chr14	GH14I054664	54664178	54672593	1.05	[{'connected_gene': 'SAMD4A', 'score': 11.59}, {'connected_gene': 'CGRRF1', 'score': 10.65}, {'connected_gene': 'LOC729451', 'score': 0.37}, {'connected_gene': 'GC14P054145', 'score': 0.03}]
chr14	GH14I054637	54637210	54639802	0.96	[{'connected_gene': 'SAMD4A', 'score': 12.46}, {'connected_gene': 'CGRRF1', 'score': 10.73}, {'connected_gene': 'ENSG00000258753', 'score': 4.53}, {'connected_gene': 'LOC729451', 'score': 0.25}, {'connected_gene': 'GC14P054145', 'score': 0.04}]
chr14	GH14I054597	54597800	54598201	1	[{'connected_gene': 'SAMD4A', 'score': 11.7}, {'connected_gene': 'CGRRF1', 'score': 10.5}, {'connected_gene': 'LOC729451', 'score': 0.17}, {'connected_gene': 'GC14P054145', 'score': 0.05}]
chr14	GH14I054640	54640403	54641213	0.2	[{'connected_gene': 'SAMD4A', 'score': 12.46}, {'connected_gene': 'CGRRF1', 'score': 10.72}, {'connected_gene': 'LOC729451', 'score': 0.25}, {'connected_gene': 'GC14P054145', 'score': 0.04}]
chr14	GH14I054716	54716752	54717304	0.2	[{'connected_gene': 'SAMD4A', 'score': 12.28}, {'connected_gene': 'CGRRF1', 'score': 10.16}, {'connected_gene': 'GCH1', 'score': 9.57}, {'connected_gene': 'LOC729451', 'score': 0.31}, {'connected_gene': 'PIR45415', 'score': 0.21}, {'connected_gene': 'GC14P054145', 'score': 0.03}]
chr14	GH14I054717	54717643	54719758	0.89	[{'connected_gene': 'SAMD4A', 'score': 12.27}, {'connected_gene': 'CGRRF1', 'score': 10.16}, {'connected_gene': 'GCH1', 'score': 9.57}, {'connected_gene': 'LOC729451', 'score': 0.29}, {'connected_gene': 'PIR45415', 'score': 0.22}, {'connected_gene': 'GC14P054145', 'score': 0.03}]
chr14	GH14I054715	54715910	54716470	0.31	[{'connected_gene': 'SAMD4A', 'score': 12.28}, {'connected_gene': 'CGRRF1', 'score': 10.16}, {'connected_gene': 'GCH1', 'score': 9.57}, {'connected_gene': 'LOC729451', 'score': 0.31}, {'connected_gene': 'PIR45415', 'score': 0.21}, {'connected_gene': 'GC14P054145', 'score': 0.03}]
chr14	GH14I054714	54714383	54714887	0.2	[{'connected_gene': 'SAMD4A', 'score': 12.28}, {'connected_gene': 'CGRRF1', 'score': 10.16}, {'connected_gene': 'GCH1', 'score': 9.57}, {'connected_gene': 'LOC729451', 'score': 0.31}, {'connected_gene': 'PIR45415', 'score': 0.21}, {'connected_gene': 'GC14P054145', 'score': 0.03}]
chr14	GH14I054647	54647443	54647592	0.74	[{'connected_gene': 'CGRRF1', 'score': 9.93}, {'connected_gene': 'LOC729451', 'score': 0.26}, {'connected_gene': 'SAMD4A', 'score': 0.18}, {'connected_gene': 'GC14P054145', 'score': 0.03}]
chr14	GH14I054737	54737745	54738903	0.79	[{'connected_gene': 'CGRRF1', 'score': 10.72}, {'connected_gene': 'PIR45415', 'score': 0.28}, {'connected_gene': 'LOC729451', 'score': 0.23}, {'connected_gene': 'SAMD4A', 'score': 0.09}, {'connected_gene': 'GC14P054145', 'score': 0.03}]
chr14	GH14I054645	54645785	54647386	0.58	[{'connected_gene': 'CGRRF1', 'score': 9.94}, {'connected_gene': 'LOC729451', 'score': 0.26}, {'connected_gene': 'SAMD4A', 'score': 0.18}, {'connected_gene': 'GC14P054145', 'score': 0.03}]
chr14	GH14I054757	54757443	54757592	0.4	[{'connected_gene': 'CGRRF1', 'score': 10.33}, {'connected_gene': 'PIR45415', 'score': 0.34}, {'connected_gene': 'LOC729451', 'score': 0.2}, {'connected_gene': 'SAMD4A', 'score': 0.08}, {'connected_gene': 'GC14P054145', 'score': 0.03}]
chr14	GH14I054733	54733454	54737507	0.63	[{'connected_gene': 'CGRRF1', 'score': 10.89}, {'connected_gene': 'PIR45415', 'score': 0.26}, {'connected_gene': 'LOC729451', 'score': 0.25}, {'connected_gene': 'SAMD4A', 'score': 0.1}, {'connected_gene': 'GC14P054145', 'score': 0.03}]
chr14	GH14I054738	54737523	54737692	0.83	[{'connected_gene': 'CGRRF1', 'score': 10.72}, {'connected_gene': 'PIR45415', 'score': 0.26}, {'connected_gene': 'LOC729451', 'score': 0.25}, {'connected_gene': 'SAMD4A', 'score': 0.09}, {'connected_gene': 'GC14P054145', 'score': 0.03}]
chr14	GH14I054482	54482703	54484200	1	[{'connected_gene': 'CGRRF1', 'score': 10.9}, {'connected_gene': 'GMFB', 'score': 0.44}, {'connected_gene': 'ENSG00000258753', 'score': 0.39}, {'connected_gene': 'GC14P054145', 'score': 0.05}]
chr14	GH14I054485	54485601	54485800	0.2	[{'connected_gene': 'CGRRF1', 'score': 10.93}, {'connected_gene': 'GMFB', 'score': 0.77}, {'connected_gene': 'ENSG00000258753', 'score': 0.39}, {'connected_gene': 'GC14P054145', 'score': 0.05}]
chr14	GH14I054484	54484401	54484600	0.2	[{'connected_gene': 'CGRRF1', 'score': 10.9}, {'connected_gene': 'GMFB', 'score': 0.77}, {'connected_gene': 'ENSG00000258753', 'score': 0.39}, {'connected_gene': 'GC14P054145', 'score': 0.05}]
chr14	GH14I054503	54503401	54504001	0.96	[{'connected_gene': 'CGRRF1', 'score': 0.44}, {'connected_gene': 'GMFB', 'score': 0.39}, {'connected_gene': 'GC14P054145', 'score': 0.05}]
chr14	GH14I054605	54605502	54607462	0.83	[{'connected_gene': 'CGRRF1', 'score': 11.24}, {'connected_gene': 'GCH1', 'score': 10.18}, {'connected_gene': 'SAMD4A', 'score': 0.28}, {'connected_gene': 'LOC729451', 'score': 0.18}, {'connected_gene': 'GC14P054145', 'score': 0.04}]
chr14	GH14I054818	54818055	54819420	0.89	[{'connected_gene': 'CGRRF1', 'score': 20.79}, {'connected_gene': 'GCH1', 'score': 16.66}, {'connected_gene': 'RNU6ATAC9P', 'score': 12.36}, {'connected_gene': 'ATG14', 'score': 5.81}, {'connected_gene': 'GC14P054860', 'score': 0.26}, {'connected_gene': 'PIR45415', 'score': 0.26}]
chr14	GH14I054603	54603067	54604147	0.77	[{'connected_gene': 'CGRRF1', 'score': 11.25}, {'connected_gene': 'SAMD4A', 'score': 0.28}, {'connected_gene': 'LOC729451', 'score': 0.18}, {'connected_gene': 'GC14P054145', 'score': 0.05}]
chr14	GH14I054648	54648202	54655595	1.32	[{'connected_gene': 'CGRRF1', 'score': 9.93}, {'connected_gene': 'SAMD4A', 'score': 5.17}, {'connected_gene': 'LOC729451', 'score': 0.28}, {'connected_gene': 'GC14P054145', 'score': 0.03}]
chr14	GH14I054711	54711363	54714152	0.83	[{'connected_gene': 'CGRRF1', 'score': 20.15}, {'connected_gene': 'SAMD4A', 'score': 12.28}, {'connected_gene': 'GCH1', 'score': 10.24}, {'connected_gene': 'LOC729451', 'score': 0.34}, {'connected_gene': 'PIR45415', 'score': 0.2}, {'connected_gene': 'GC14P054145', 'score': 0.03}]
chr14	GH14I054481	54481808	54482668	0.31	[{'connected_gene': 'CGRRF1', 'score': 11.24}, {'connected_gene': 'CNIH1', 'score': 11.18}, {'connected_gene': 'GMFB', 'score': 0.44}, {'connected_gene': 'ENSG00000258753', 'score': 0.39}, {'connected_gene': 'GC14P054145', 'score': 0.05}]
chr14	GH14I054486	54486401	54486600	0.38	[{'connected_gene': 'CGRRF1', 'score': 11.48}, {'connected_gene': 'CNIH1', 'score': 11.03}, {'connected_gene': 'GMFB', 'score': 0.77}, {'connected_gene': 'ENSG00000258753', 'score': 0.37}, {'connected_gene': 'GC14P054145', 'score': 0.05}]
chr14	GH14I054509	54509201	54510938	2.01	[{'connected_gene': 'CGRRF1', 'score': 550.77}, {'connected_gene': 'CNIH1', 'score': 5.4}, {'connected_gene': 'GC14P054543', 'score': 0.29}, {'connected_gene': 'GC14P054145', 'score': 0.05}]
chr14	GH14I054497	54497185	54499026	0.82	[{'connected_gene': 'CNIH1', 'score': 15.29}, {'connected_gene': 'GMFB', 'score': 7.08}, {'connected_gene': 'CGRRF1', 'score': 0.39}, {'connected_gene': 'GC14P054145', 'score': 0.05}]
chr14	GH14I054463	54463201	54463400	0.2	[{'connected_gene': 'CNIH1', 'score': 12.21}, {'connected_gene': 'CGRRF1', 'score': 11.59}, {'connected_gene': 'ENSG00000258753', 'score': 0.44}, {'connected_gene': 'GC14P054145', 'score': 0.06}]
chr14	GH14I054529	54529903	54530052	0.31	[{'connected_gene': 'GC14P054543', 'score': 0.39}, {'connected_gene': 'CGRRF1', 'score': 0.34}, {'connected_gene': 'GC14P054145', 'score': 0.05}]
chr14	GH14I054532	54532875	54533351	0.63	[{'connected_gene': 'GC14P054543', 'score': 0.39}, {'connected_gene': 'CGRRF1', 'score': 0.34}, {'connected_gene': 'GC14P054145', 'score': 0.05}]