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
ENST00000236137	[[169433146, 169435215], [169437348, 169437490], [169437881, 169438074], [169439201, 169439424], [169446392, 169446995], [169454800, 169455241]]	[[169435086, 169435215], [169437348, 169437490], [169437881, 169438074], [169439201, 169439424], [169446392, 169446995], [169454800, 169455004]]
ENST00000367804	[[169433166, 169435215], [169437348, 169437490], [169437881, 169438074], [169439201, 169439424], [169454800, 169455169]]	[[169435086, 169435215], [169437348, 169437490], [169437881, 169438074], [169439201, 169439424], [169454800, 169455004]]
NM_006996	[[169433146, 169435215], [169437348, 169437490], [169437881, 169438074], [169439201, 169439424], [169446392, 169446995], [169454800, 169455208]]	[[169435086, 169435215], [169437348, 169437490], [169437881, 169438074], [169439201, 169439424], [169446392, 169446995], [169454800, 169455004]]
NM_001319667	[[169433146, 169435215], [169437348, 169437490], [169437881, 169438074], [169439201, 169439424], [169454800, 169455208]]	[[169435086, 169435215], [169437348, 169437490], [169437881, 169438074], [169439201, 169439424], [169454800, 169455004]]

Promoter

Chrom	Start	End	Description
chr1	169454950	169454961	CAGE_peak_4_at_SLC19A2_5end
chr1	169454968	169454997	CAGE_peak_2_at_SLC19A2_5end
chr1	169455061	169455072	CAGE_peak_5_at_SLC19A2_5end
chr1	169455094	169455099	CAGE_peak_6_at_SLC19A2_5end
chr1	169455120	169455131	CAGE_peak_3_at_SLC19A2_5end
chr1	169455172	169455226	CAGE_peak_1_at_SLC19A2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I169494	169494972	169495832	0.69	[{'connected_gene': 'NME7', 'score': 12.0}, {'connected_gene': 'CCDC181', 'score': 10.65}, {'connected_gene': 'SLC19A2', 'score': 4.92}, {'connected_gene': 'BLZF1', 'score': 3.05}, {'connected_gene': 'GC01P169489', 'score': 0.44}, {'connected_gene': 'GC01P169565', 'score': 0.19}]
chr1	GH01I169584	169584601	169587000	1.6	[{'connected_gene': 'F5', 'score': 556.07}, {'connected_gene': 'SCYL3', 'score': 4.15}, {'connected_gene': 'BLZF1', 'score': 2.72}, {'connected_gene': 'SLC19A2', 'score': 2.61}, {'connected_gene': 'GC01P169565', 'score': 0.34}]
chr1	GH01I169511	169511070	169512412	0.8	[{'connected_gene': 'SLC19A2', 'score': 18.7}, {'connected_gene': 'ENSG00000213062', 'score': 12.03}, {'connected_gene': 'CCDC181', 'score': 10.02}, {'connected_gene': 'NME7', 'score': 5.29}, {'connected_gene': 'GC01P169489', 'score': 0.34}, {'connected_gene': 'GC01P169565', 'score': 0.23}, {'connected_gene': 'F5', 'score': 0.19}]
chr1	GH01I169526	169526902	169530640	1.01	[{'connected_gene': 'SLC19A2', 'score': 18.26}, {'connected_gene': 'ENSG00000213062', 'score': 12.16}, {'connected_gene': 'NME7', 'score': 8.73}, {'connected_gene': 'F5', 'score': 4.48}, {'connected_gene': 'GC01P169565', 'score': 0.28}, {'connected_gene': 'GC01P169489', 'score': 0.28}]
chr1	GH01I169508	169508284	169509346	1.06	[{'connected_gene': 'SLC19A2', 'score': 6.37}, {'connected_gene': 'GC01P169489', 'score': 0.37}, {'connected_gene': 'GC01P169565', 'score': 0.22}]
chr1	GH01I169482	169482741	169488400	2.32	[{'connected_gene': 'ENSG00000213062', 'score': 558.34}, {'connected_gene': 'GC01P169486', 'score': 550.77}, {'connected_gene': 'SLC19A2', 'score': 550.77}, {'connected_gene': 'SCYL3', 'score': 24.14}, {'connected_gene': 'METTL18', 'score': 17.93}, {'connected_gene': 'RN7SL333P', 'score': 16.78}, {'connected_gene': 'NME7', 'score': 13.69}, {'connected_gene': 'C1orf112', 'score': 12.07}, {'connected_gene': 'CCDC181', 'score': 10.78}, {'connected_gene': 'PIR61656', 'score': 0.44}]
chr1	GH01I169550	169550343	169550452	0.52	[{'connected_gene': 'ENSG00000213062', 'score': 10.91}, {'connected_gene': 'SLC19A2', 'score': 10.91}, {'connected_gene': 'NME7', 'score': 6.28}, {'connected_gene': 'GC01P169565', 'score': 0.37}, {'connected_gene': 'F5', 'score': 0.28}, {'connected_gene': 'GC01P169489', 'score': 0.21}]
chr1	GH01I169546	169546443	169546452	0.72	[{'connected_gene': 'ENSG00000213062', 'score': 11.97}, {'connected_gene': 'SLC19A2', 'score': 11.97}, {'connected_gene': 'F5', 'score': 11.35}, {'connected_gene': 'CCDC181', 'score': 10.68}, {'connected_gene': 'SELE', 'score': 9.96}, {'connected_gene': 'GC01P169565', 'score': 0.37}, {'connected_gene': 'GC01P169489', 'score': 0.22}]
chr1	GH01I169547	169546483	169546652	0.72	[{'connected_gene': 'ENSG00000213062', 'score': 11.97}, {'connected_gene': 'SLC19A2', 'score': 11.97}, {'connected_gene': 'F5', 'score': 11.35}, {'connected_gene': 'CCDC181', 'score': 10.68}, {'connected_gene': 'SELE', 'score': 9.96}, {'connected_gene': 'GC01P169565', 'score': 0.37}, {'connected_gene': 'GC01P169489', 'score': 0.22}]
chr1	GH01I169539	169539143	169539292	0.69	[{'connected_gene': 'ENSG00000213062', 'score': 12.05}, {'connected_gene': 'SLC19A2', 'score': 12.05}, {'connected_gene': 'GC01P169565', 'score': 0.31}, {'connected_gene': 'F5', 'score': 0.25}, {'connected_gene': 'GC01P169489', 'score': 0.23}]
chr1	GH01I169509	169509483	169509632	0.62	[{'connected_gene': 'ENSG00000213062', 'score': 12.38}, {'connected_gene': 'SLC19A2', 'score': 12.38}, {'connected_gene': 'GC01P169489', 'score': 0.34}, {'connected_gene': 'GC01P169565', 'score': 0.22}]
chr1	GH01I169478	169478401	169478600	0.38	[{'connected_gene': 'PIR61656', 'score': 550.77}, {'connected_gene': 'ENSG00000213062', 'score': 0.44}, {'connected_gene': 'SLC19A2', 'score': 0.44}]