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
ENST00000554908	[[54941201, 54947674], [54948126, 54948176], [54950388, 54950485], [54955642, 54955743]]	[[54948159, 54948176], [54950388, 54950485], [54955642, 54955645]]
ENST00000358056	[[54941202, 54944877], [54946503, 54946577], [54947591, 54947674], [54948126, 54948176], [54948870, 54948920], [54950388, 54950485], [54955642, 54955914]]	[[54944805, 54944877], [54946503, 54946577], [54947591, 54947674], [54948126, 54948176], [54948870, 54948920], [54950388, 54950485], [54955642, 54955645]]
ENST00000554163	[[54944639, 54944877], [54946503, 54946577], [54947591, 54947680], [54948043, 54948176], [54948870, 54948920], [54950388, 54950486]]	None
ENST00000554247	[[54944700, 54944877], [54946503, 54946577], [54947591, 54947659], [54948043, 54948176], [54950388, 54950485], [54955642, 54955698]]	[[54948159, 54948176], [54950388, 54950485], [54955642, 54955645]]
ENST00000553333	[[54944823, 54944877], [54946503, 54946577], [54947591, 54947677], [54948126, 54948176], [54948870, 54948920], [54950388, 54950485], [54950650, 54950778], [54955324, 54955376]]	[[54944823, 54944877], [54946503, 54946577], [54947591, 54947677], [54948126, 54948176], [54948870, 54948920], [54950388, 54950485], [54950650, 54950689]]
ENST00000553566	[[54948112, 54948176], [54948870, 54948920], [54950388, 54950485], [54955399, 54955579]]	None
ENST00000554682	[[54948112, 54948176], [54948839, 54948920], [54950388, 54950485], [54955642, 54955698]]	None
ENST00000553952	[[54949845, 54950485], [54955642, 54955712]]	None
NM_004124	[[54941208, 54944877], [54946503, 54946577], [54947591, 54947674], [54948126, 54948176], [54948870, 54948920], [54950388, 54950485], [54955642, 54955744]]	[[54944805, 54944877], [54946503, 54946577], [54947591, 54947674], [54948126, 54948176], [54948870, 54948920], [54950388, 54950485], [54955642, 54955645]]

Promoter

Chrom	Start	End	Description
chr14	54955511	54955522	CAGE_peak_3_at_GMFB_5end
chr14	54955525	54955532	CAGE_peak_4_at_GMFB_5end
chr14	54955658	54955707	CAGE_peak_1_at_GMFB_5end
chr14	54955721	54955760	CAGE_peak_2_at_GMFB_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	GH14I054848	54848034	54848155	0.24	[{'connected_gene': 'GCH1', 'score': 8.1}, {'connected_gene': 'MAPK1IP1L', 'score': 2.57}, {'connected_gene': 'FBXO34', 'score': 2.29}, {'connected_gene': 'LGALS3', 'score': 2.12}, {'connected_gene': 'GMFB', 'score': 1.94}, {'connected_gene': 'GC14P054860', 'score': 0.39}, {'connected_gene': 'PIR45415', 'score': 0.2}]
chr14	GH14I054624	54624898	54629489	1.36	[{'connected_gene': 'GCH1', 'score': 5.0}, {'connected_gene': 'GMFB', 'score': 2.81}, {'connected_gene': 'MAPK1IP1L', 'score': 1.21}, {'connected_gene': 'SAMD4A', 'score': 0.21}, {'connected_gene': 'LOC729451', 'score': 0.21}, {'connected_gene': 'GC14P054145', 'score': 0.04}]
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	GH14I054908	54908102	54908771	0.9	[{'connected_gene': 'GCH1', 'score': 12.62}, {'connected_gene': 'ATG14', 'score': 4.82}, {'connected_gene': 'GMFB', 'score': 4.31}, {'connected_gene': 'LGALS3', 'score': 2.72}, {'connected_gene': 'FBXO34', 'score': 2.33}, {'connected_gene': 'MAPK1IP1L', 'score': 1.66}, {'connected_gene': 'GC14P054912', 'score': 0.77}]
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	GH14I054782	54782401	54786078	1.37	[{'connected_gene': 'SAMD4A', 'score': 11.58}, {'connected_gene': 'GCH1', 'score': 10.07}, {'connected_gene': 'WDHD1', 'score': 4.17}, {'connected_gene': 'GMFB', 'score': 3.02}, {'connected_gene': 'FBXO34', 'score': 2.38}, {'connected_gene': 'LGALS3', 'score': 2.23}, {'connected_gene': 'MAPK1IP1L', 'score': 1.26}, {'connected_gene': 'PIR45415', 'score': 0.44}, {'connected_gene': 'GC14P054860', 'score': 0.19}]
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	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	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	GH14I054488	54486803	54486952	0.77	[{'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	GH14I054472	54472085	54473253	0.49	[{'connected_gene': 'ENSG00000258753', 'score': 550.77}, {'connected_gene': 'GMFB', 'score': 0.37}, {'connected_gene': 'GC14P054145', 'score': 0.05}]
chr14	GH14I054470	54470791	54471688	0.31	[{'connected_gene': 'ENSG00000258753', 'score': 550.77}, {'connected_gene': 'CNIH1', 'score': 9.66}, {'connected_gene': 'GMFB', 'score': 0.37}, {'connected_gene': 'GC14P054145', 'score': 0.05}]