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
ENST00000402285	[[55459038, 55459244], [55459943, 55460008], [55460498, 55460553], [55461254, 55461340], [55461966, 55462098], [55462563, 55462724]]	[[55459960, 55460008], [55460498, 55460553], [55461254, 55461340], [55461966, 55462098], [55462563, 55462713]]
ENST00000272317	[[55459537, 55459844], [55459943, 55460008], [55460498, 55460553], [55461254, 55461340], [55461966, 55462098], [55462563, 55462989]]	[[55459960, 55460008], [55460498, 55460553], [55461254, 55461340], [55461966, 55462098], [55462563, 55462713]]
ENST00000449323	[[55459567, 55459654], [55459943, 55460008], [55460498, 55460553], [55461254, 55461340], [55461966, 55462095]]	[[55459960, 55460008], [55460498, 55460553], [55461254, 55461340], [55461966, 55462095]]
ENST00000404735	[[55459813, 55460008], [55460498, 55460553], [55461254, 55461340], [55461966, 55462098], [55462563, 55462891]]	[[55459960, 55460008], [55460498, 55460553], [55461254, 55461340], [55461966, 55462098], [55462563, 55462713]]
ENST00000463185	[[55459816, 55459844], [55459943, 55460505]]	None
ENST00000471772	[[55459823, 55459844], [55459943, 55460008], [55460498, 55460969]]	None
ENST00000478196	[[55459824, 55459844], [55459943, 55460008], [55460498, 55460553], [55461254, 55461340], [55461966, 55462320]]	None
ENST00000494756	[[55459829, 55460008], [55460498, 55460854]]	None
ENST00000495843	[[55459930, 55460008], [55460498, 55460553], [55461254, 55462098], [55462563, 55462745]]	None
ENST00000468810	[[55460492, 55460553], [55461254, 55461697], [55461966, 55462059]]	None
NM_001135592	[[55459038, 55459244], [55459943, 55460008], [55460498, 55460553], [55461254, 55461340], [55461966, 55462098], [55462563, 55462989]]	[[55459960, 55460008], [55460498, 55460553], [55461254, 55461340], [55461966, 55462098], [55462563, 55462713]]
NM_002954	[[55459540, 55459844], [55459943, 55460008], [55460498, 55460553], [55461254, 55461340], [55461966, 55462098], [55462563, 55462989]]	[[55459960, 55460008], [55460498, 55460553], [55461254, 55461340], [55461966, 55462098], [55462563, 55462713]]
NM_001177413	[[55459813, 55460008], [55460498, 55460553], [55461254, 55461340], [55461966, 55462098], [55462563, 55462989]]	[[55459960, 55460008], [55460498, 55460553], [55461254, 55461340], [55461966, 55462098], [55462563, 55462713]]

Promoter

Chrom	Start	End	Description
chr2	55459495	55459528	CAGE_peak_3_at_RPS27A_5end
chr2	55459786	55459807	CAGE_peak_2_at_RPS27A_5end
chr2	55459808	55459860	CAGE_peak_1_at_RPS27A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I055692	55692646	55694555	2.06	[{'connected_gene': 'PNPT1', 'score': 560.68}, {'connected_gene': 'RPS27A', 'score': 11.69}, {'connected_gene': 'GC02M055689', 'score': 0.77}]
chr2	GH02I054554	54554787	54563622	2.66	[{'connected_gene': 'SPTBN1', 'score': 568.64}, {'connected_gene': 'LOC105374640', 'score': 550.77}, {'connected_gene': 'EML6', 'score': 15.43}, {'connected_gene': 'ENSG00000203327', 'score': 9.94}, {'connected_gene': 'RPS27A', 'score': 9.9}, {'connected_gene': 'RTN4', 'score': 1.44}, {'connected_gene': 'GC02M054620', 'score': 0.21}, {'connected_gene': 'PIR49112', 'score': 0.21}]
chr2	GH02I055482	55482201	55482601	0.77	[{'connected_gene': 'RPS27A', 'score': 17.06}, {'connected_gene': 'PNPT1', 'score': 7.59}, {'connected_gene': 'GC02P055475', 'score': 0.44}, {'connected_gene': 'RNU6-634P', 'score': 0.37}]
chr2	GH02I055045	55045323	55053556	2.33	[{'connected_gene': 'RTN4', 'score': 583.62}, {'connected_gene': 'RPS27A', 'score': 24.76}, {'connected_gene': 'PRORSD1P', 'score': 17.84}, {'connected_gene': 'RNU6-433P', 'score': 11.76}, {'connected_gene': 'ENSG00000272156', 'score': 10.05}, {'connected_gene': 'CLHC1', 'score': 8.57}, {'connected_gene': 'EML6', 'score': 4.14}, {'connected_gene': 'GC02P055039', 'score': 0.39}, {'connected_gene': 'LOC105374662', 'score': 0.29}]
chr2	GH02I054523	54523307	54525953	1.41	[{'connected_gene': 'EML6', 'score': 26.4}, {'connected_gene': 'ENSG00000203327', 'score': 13.49}, {'connected_gene': 'PRORSD1P', 'score': 12.39}, {'connected_gene': 'RPS27A', 'score': 12.14}, {'connected_gene': 'SPTBN1', 'score': 10.74}, {'connected_gene': 'CLHC1', 'score': 10.63}, {'connected_gene': 'ACYP2', 'score': 10.21}, {'connected_gene': 'RNU7-172P', 'score': 9.75}, {'connected_gene': 'RPL23AP32', 'score': 0.77}, {'connected_gene': 'GC02P054516', 'score': 0.44}, {'connected_gene': 'ENSG00000228108', 'score': 0.37}, {'connected_gene': 'LOC105374640', 'score': 0.29}]
chr2	GH02I055884	55883291	55889931	1.25	[{'connected_gene': 'EFEMP1', 'score': 18.31}, {'connected_gene': 'ENSG00000203327', 'score': 13.49}, {'connected_gene': 'PRORSD1P', 'score': 12.39}, {'connected_gene': 'RPS27A', 'score': 12.14}, {'connected_gene': 'CLHC1', 'score': 10.63}, {'connected_gene': 'ENSG00000240401', 'score': 8.39}, {'connected_gene': 'RN7SKP208', 'score': 4.81}, {'connected_gene': 'GC02P055762', 'score': 0.13}]
chr2	GH02I055231	55231135	55234835	2.28	[{'connected_gene': 'CLHC1', 'score': 613.05}, {'connected_gene': 'RPS27A', 'score': 571.67}, {'connected_gene': 'GC02P055233', 'score': 550.77}, {'connected_gene': 'PRORSD1P', 'score': 21.41}, {'connected_gene': 'RTN4', 'score': 8.16}]
chr2	GH02I055227	55227601	55228799	1.16	[{'connected_gene': 'CLHC1', 'score': 15.85}, {'connected_gene': 'RPS27A', 'score': 0.77}, {'connected_gene': 'LOC100128027', 'score': 0.77}]
chr2	GH02I055150	55150240	55160104	1.59	[{'connected_gene': 'CLHC1', 'score': 39.34}, {'connected_gene': 'ENSG00000203327', 'score': 21.05}, {'connected_gene': 'RTN4', 'score': 18.32}, {'connected_gene': 'RNU6-433P', 'score': 11.61}, {'connected_gene': 'RPS27A', 'score': 10.06}, {'connected_gene': 'PRORSD1P', 'score': 8.34}, {'connected_gene': 'MTIF2', 'score': 4.24}, {'connected_gene': 'PPP4R3B', 'score': 1.12}, {'connected_gene': 'GC02M055160', 'score': 0.44}, {'connected_gene': 'LOC105374674', 'score': 0.37}, {'connected_gene': 'GC02P055128', 'score': 0.31}]
chr2	GH02I054466	54466917	54467723	0.51	[{'connected_gene': 'CLHC1', 'score': 12.5}, {'connected_gene': 'PRORSD1P', 'score': 10.65}, {'connected_gene': 'RNU7-172P', 'score': 10.63}, {'connected_gene': 'ENSG00000203327', 'score': 10.44}, {'connected_gene': 'EML6', 'score': 10.22}, {'connected_gene': 'RPS27A', 'score': 9.93}, {'connected_gene': 'GC02P054478', 'score': 0.39}, {'connected_gene': 'SPTBN1', 'score': 0.39}]
chr2	GH02I055225	55225601	55225834	0.51	[{'connected_gene': 'LOC100128027', 'score': 550.77}, {'connected_gene': 'CLHC1', 'score': 32.02}, {'connected_gene': 'PRORSD1P', 'score': 10.9}, {'connected_gene': 'RPS27A', 'score': 0.44}]
chr2	GH02I055614	55614826	55619848	2.31	[{'connected_gene': 'ENSG00000272606', 'score': 560.13}, {'connected_gene': 'PPP4R3B', 'score': 557.93}, {'connected_gene': 'GC02P055618', 'score': 550.77}, {'connected_gene': 'RPS27A', 'score': 11.7}, {'connected_gene': 'PNPT1', 'score': 9.89}, {'connected_gene': 'PRORSD1P', 'score': 9.23}, {'connected_gene': 'CLHC1', 'score': 5.85}, {'connected_gene': 'GC02P055601', 'score': 0.37}]
chr2	GH02I055268	55268200	55270215	2.12	[{'connected_gene': 'GC02P055270', 'score': 550.77}, {'connected_gene': 'MTIF2', 'score': 550.77}, {'connected_gene': 'RPS27A', 'score': 37.44}, {'connected_gene': 'CLHC1', 'score': 15.51}, {'connected_gene': 'PRORSD1P', 'score': 10.91}, {'connected_gene': 'GC02P055233', 'score': 0.28}]
chr2	GH02I055115	55115601	55116474	1.33	[{'connected_gene': 'ENSG00000203327', 'score': 13.62}, {'connected_gene': 'PRORSD1P', 'score': 12.47}, {'connected_gene': 'RPS27A', 'score': 12.24}, {'connected_gene': 'CLHC1', 'score': 10.73}, {'connected_gene': 'RTN4', 'score': 0.77}, {'connected_gene': 'GC02P055128', 'score': 0.39}]
chr2	GH02I054477	54477601	54477800	0.87	[{'connected_gene': 'GC02P054478', 'score': 550.77}, {'connected_gene': 'CLHC1', 'score': 12.5}, {'connected_gene': 'SPTBN1', 'score': 11.79}, {'connected_gene': 'PRORSD1P', 'score': 10.65}, {'connected_gene': 'ENSG00000203327', 'score': 10.45}, {'connected_gene': 'C2orf73', 'score': 10.4}, {'connected_gene': 'ACYP2', 'score': 10.21}, {'connected_gene': 'RPS27A', 'score': 9.93}]