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
ENST00000395573	[[54893653, 54894559], [54898825, 54898938], [54903086, 54903155], [54907964, 54908109]]	[[54894531, 54894559], [54898825, 54898938], [54903086, 54903155], [54907964, 54908045]]
ENST00000216416	[[54893653, 54894559], [54896978, 54897122], [54898825, 54898938], [54903086, 54903155], [54907964, 54908149]]	[[54894531, 54894559], [54896978, 54897122], [54898825, 54898938], [54903086, 54903155], [54907964, 54908045]]
ENST00000557659	[[54894046, 54894559], [54896978, 54897122], [54903086, 54903155], [54907964, 54908094]]	[[54897110, 54897122], [54903086, 54903155], [54907964, 54908045]]
ENST00000553660	[[54894142, 54894559], [54896978, 54897122], [54898825, 54898938], [54907964, 54908075]]	[[54894531, 54894559], [54896978, 54897122], [54898825, 54898938], [54907964, 54908045]]
ENST00000557690	[[54894240, 54894559], [54896978, 54897122], [54898825, 54898938], [54902796, 54902844], [54903086, 54903155], [54907964, 54908109]]	[[54894531, 54894559], [54896978, 54897122], [54898825, 54898938], [54902796, 54902844], [54903086, 54903155], [54907964, 54908045]]
ENST00000554683	[[54894312, 54894559], [54896978, 54897122], [54898825, 54898938], [54903086, 54903155], [54903387, 54903503], [54907964, 54908062]]	[[54903482, 54903503], [54907964, 54908045]]
ENST00000556113	[[54896875, 54897122], [54898825, 54898938], [54903086, 54903155], [54907964, 54908058]]	[[54896974, 54897122], [54898825, 54898938], [54903086, 54903155], [54907964, 54908045]]
NM_005776	[[54893646, 54894559], [54896978, 54897122], [54898825, 54898938], [54903086, 54903155], [54907964, 54908148]]	[[54894531, 54894559], [54896978, 54897122], [54898825, 54898938], [54903086, 54903155], [54907964, 54908045]]

Promoter

Chrom	Start	End	Description
chr14	54908043	54908114	CAGE_peak_1_at_CNIH_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	GH14I054771	54771314	54777447	1.65	[{'connected_gene': 'GCH1', 'score': 6.85}, {'connected_gene': 'CNIH1', 'score': 4.61}, {'connected_gene': 'PIR45415', 'score': 0.77}, {'connected_gene': 'LOC729451', 'score': 0.17}, {'connected_gene': 'SAMD4A', 'score': 0.08}]
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	GH14I054564	54564103	54572039	2.46	[{'connected_gene': 'SAMD4A', 'score': 553.76}, {'connected_gene': 'CNIH1', 'score': 6.47}, {'connected_gene': 'LGALS3', 'score': 5.64}, {'connected_gene': 'LOC729451', 'score': 0.13}, {'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	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	GH14I054395	54395883	54398618	2.01	[{'connected_gene': 'CDKN3', 'score': 550.77}, {'connected_gene': 'MAPK1IP1L', 'score': 28.06}, {'connected_gene': 'SOCS4', 'score': 14.16}, {'connected_gene': 'WDHD1', 'score': 13.83}, {'connected_gene': 'BMP4', 'score': 11.3}, {'connected_gene': 'CNIH1', 'score': 7.68}, {'connected_gene': 'GC14P054145', 'score': 0.07}]
chr14	GH14I054420	54420603	54420732	0.46	[{'connected_gene': 'CDKN3', 'score': 0.34}, {'connected_gene': 'CNIH1', 'score': 0.34}, {'connected_gene': 'GC14P054145', 'score': 0.06}]
chr14	GH14I054421	54420401	54420601	0.46	[{'connected_gene': 'CDKN3', 'score': 0.34}, {'connected_gene': 'CNIH1', 'score': 0.34}, {'connected_gene': 'GC14P054145', 'score': 0.06}]
chr14	GH14I054422	54420800	54421000	0.49	[{'connected_gene': 'CDKN3', 'score': 0.34}, {'connected_gene': 'CNIH1', 'score': 0.34}, {'connected_gene': 'GC14P054145', 'score': 0.06}]
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	GH14I054576	54576572	54578428	0.54	[{'connected_gene': 'CNIH1', 'score': 6.51}, {'connected_gene': 'SAMD4A', 'score': 0.39}, {'connected_gene': 'LOC729451', 'score': 0.14}, {'connected_gene': 'GC14P054145', 'score': 0.04}]
chr14	GH14I054439	54439769	54442244	2.02	[{'connected_gene': 'CNIH1', 'score': 562.1}, {'connected_gene': 'ATG14', 'score': 13.36}, {'connected_gene': 'WDHD1', 'score': 10.53}, {'connected_gene': 'CDKN3', 'score': 0.26}, {'connected_gene': 'GC14P054145', 'score': 0.06}]
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	GH14I054438	54438801	54439000	0.6	[{'connected_gene': 'CNIH1', 'score': 0.77}, {'connected_gene': 'CDKN3', 'score': 0.26}, {'connected_gene': 'GC14P054145', 'score': 0.06}]
chr14	GH14I054434	54434385	54437291	1.13	[{'connected_gene': 'CNIH1', 'score': 0.44}, {'connected_gene': 'CDKN3', 'score': 0.28}, {'connected_gene': 'GC14P054145', 'score': 0.06}]
chr14	GH14I054355	54355823	54355972	0.2	[{'connected_gene': 'CNIH1', 'score': 10.36}, {'connected_gene': 'PIR46664', 'score': 0.28}, {'connected_gene': 'GC14P054217', 'score': 0.12}, {'connected_gene': 'GC14P054145', 'score': 0.08}]
chr14	GH14I054356	54356144	54356512	0.59	[{'connected_gene': 'CNIH1', 'score': 10.36}, {'connected_gene': 'PIR46664', 'score': 0.28}, {'connected_gene': 'GC14P054217', 'score': 0.12}, {'connected_gene': 'GC14P054145', 'score': 0.08}]
chr14	GH14I054353	54353278	54355371	0.95	[{'connected_gene': 'CNIH1', 'score': 10.36}, {'connected_gene': 'PIR46664', 'score': 0.28}, {'connected_gene': 'GC14P054217', 'score': 0.12}, {'connected_gene': 'GC14P054145', 'score': 0.08}]
chr14	GH14I054446	54446127	54448054	1.12	[{'connected_gene': 'CNIH1', 'score': 10.0}, {'connected_gene': 'ENSG00000258753', 'score': 0.34}, {'connected_gene': 'GC14P054145', 'score': 0.06}]
chr14	GH14I054348	54348669	54350092	0.58	[{'connected_gene': 'CNIH1', 'score': 4.91}, {'connected_gene': 'PIR46664', 'score': 0.26}, {'connected_gene': 'GC14P054217', 'score': 0.12}, {'connected_gene': 'GC14P054145', 'score': 0.08}]
chr14	GH14I054386	54386788	54388200	0.43	[{'connected_gene': 'CNIH1', 'score': 15.43}, {'connected_gene': 'PIR46664', 'score': 0.77}, {'connected_gene': 'GC14P054217', 'score': 0.1}, {'connected_gene': 'GC14P054145', 'score': 0.07}]
chr14	GH14I054444	54444803	54444952	0.2	[{'connected_gene': 'CNIH1', 'score': 0.77}, {'connected_gene': 'ENSG00000258753', 'score': 0.31}, {'connected_gene': 'GC14P054145', 'score': 0.06}]
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}]