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
ENST00000495481	[[169483403, 169483697], [169484681, 169484983]]	None
ENST00000367796	[[169483403, 169483697], [169484681, 169484864], [169487649, 169487801], [169489757, 169489902], [169492434, 169492590], [169493038, 169493142], [169494074, 169494146], [169495138, 169495255], [169497152, 169497332], [169498845, 169499056], [169500023, 169500260], [169505743, 169505918], [169509531, 169512352], [169513533, 169513761], [169515679, 169515830], [169519038, 169519253], [169519877, 169519977], [169521794, 169521972], [169524419, 169524585], [169525883, 169526105], [169528390, 169528534], [169529791, 169530004], [169541458, 169541581], [169551668, 169551760], [169555466, 169555826]]	[[169483550, 169483697], [169484681, 169484864], [169487649, 169487801], [169489757, 169489902], [169492434, 169492590], [169493038, 169493142], [169494074, 169494146], [169495138, 169495255], [169497152, 169497332], [169498845, 169499056], [169500023, 169500260], [169505743, 169505918], [169509531, 169512352], [169513533, 169513761], [169515679, 169515830], [169519038, 169519253], [169519877, 169519977], [169521794, 169521972], [169524419, 169524585], [169525883, 169526105], [169528390, 169528534], [169529791, 169530004], [169541458, 169541581], [169551668, 169551760], [169555466, 169555624]]
ENST00000367797	[[169483403, 169483697], [169484681, 169484864], [169487649, 169487801], [169489757, 169489902], [169492434, 169492590], [169493038, 169493142], [169494074, 169494146], [169495138, 169495255], [169497152, 169497332], [169498845, 169499056], [169500023, 169500260], [169505743, 169505918], [169509531, 169512352], [169513533, 169513746], [169515679, 169515830], [169519038, 169519253], [169519877, 169519977], [169521794, 169521972], [169524419, 169524585], [169525883, 169526105], [169528390, 169528534], [169529791, 169530004], [169541458, 169541581], [169551668, 169551760], [169555466, 169555826]]	[[169483550, 169483697], [169484681, 169484864], [169487649, 169487801], [169489757, 169489902], [169492434, 169492590], [169493038, 169493142], [169494074, 169494146], [169495138, 169495255], [169497152, 169497332], [169498845, 169499056], [169500023, 169500260], [169505743, 169505918], [169509531, 169512352], [169513533, 169513746], [169515679, 169515830], [169519038, 169519253], [169519877, 169519977], [169521794, 169521972], [169524419, 169524585], [169525883, 169526105], [169528390, 169528534], [169529791, 169530004], [169541458, 169541581], [169551668, 169551760], [169555466, 169555624]]
ENST00000546081	[[169515726, 169515830], [169519038, 169519249], [169519877, 169519977], [169521794, 169521972], [169524419, 169524585], [169525883, 169526105], [169528390, 169528534], [169529791, 169530004], [169541458, 169541581], [169555466, 169555719]]	[[169519235, 169519249], [169519877, 169519977], [169521794, 169521972], [169524419, 169524585], [169525883, 169526105], [169528390, 169528534], [169529791, 169529966]]
NM_000130	[[169481191, 169483697], [169484681, 169484864], [169487649, 169487801], [169489757, 169489902], [169492434, 169492590], [169493038, 169493142], [169494074, 169494146], [169495138, 169495255], [169497152, 169497332], [169498845, 169499056], [169500023, 169500260], [169505743, 169505918], [169509531, 169512352], [169513533, 169513746], [169515679, 169515830], [169519038, 169519253], [169519877, 169519977], [169521794, 169521972], [169524419, 169524585], [169525883, 169526105], [169528390, 169528534], [169529791, 169530004], [169541458, 169541581], [169551668, 169551760], [169555466, 169555769]]	[[169483550, 169483697], [169484681, 169484864], [169487649, 169487801], [169489757, 169489902], [169492434, 169492590], [169493038, 169493142], [169494074, 169494146], [169495138, 169495255], [169497152, 169497332], [169498845, 169499056], [169500023, 169500260], [169505743, 169505918], [169509531, 169512352], [169513533, 169513746], [169515679, 169515830], [169519038, 169519253], [169519877, 169519977], [169521794, 169521972], [169524419, 169524585], [169525883, 169526105], [169528390, 169528534], [169529791, 169530004], [169541458, 169541581], [169551668, 169551760], [169555466, 169555624]]

Promoter

Chrom	Start	End	Description
chr1	169555677	169555678	CAGE_peak_4_at_F5_5end
chr1	169555684	169555705	CAGE_peak_2_at_F5_5end
chr1	169555709	169555730	CAGE_peak_1_at_F5_5end
chr1	169555779	169555790	CAGE_peak_3_at_F5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I169688	169688301	169705691	1.4	[{'connected_gene': 'METTL18', 'score': 42.01}, {'connected_gene': 'C1orf112', 'score': 17.9}, {'connected_gene': 'SELP', 'score': 11.57}, {'connected_gene': 'F5', 'score': 11.47}, {'connected_gene': 'SELL', 'score': 10.04}, {'connected_gene': 'SCYL3', 'score': 6.95}, {'connected_gene': 'KIFAP3', 'score': 4.36}, {'connected_gene': 'ENSG00000230704', 'score': 4.33}, {'connected_gene': 'METTL11B', 'score': 2.5}, {'connected_gene': 'GC01M169692', 'score': 0.31}]
chr1	GH01I169647	169647546	169649252	0.31	[{'connected_gene': 'METTL18', 'score': 23.57}, {'connected_gene': 'F5', 'score': 10.44}, {'connected_gene': 'GC01P169651', 'score': 0.77}, {'connected_gene': 'SELP', 'score': 0.37}]
chr1	GH01I169715	169715577	169719146	0.31	[{'connected_gene': 'METTL18', 'score': 31.15}, {'connected_gene': 'F5', 'score': 11.74}, {'connected_gene': 'SELE', 'score': 10.73}, {'connected_gene': 'GC01M169692', 'score': 0.44}, {'connected_gene': 'SELL', 'score': 0.44}, {'connected_gene': 'C1orf112', 'score': 0.22}]
chr1	GH01I169779	169779044	169782639	0.94	[{'connected_gene': 'METTL18', 'score': 39.88}, {'connected_gene': 'F5', 'score': 10.76}, {'connected_gene': 'CCDC181', 'score': 9.78}, {'connected_gene': 'SCYL3', 'score': 8.87}, {'connected_gene': 'LOC101928628', 'score': 0.37}, {'connected_gene': 'C1orf112', 'score': 0.13}]
chr1	GH01I169604	169604402	169605600	0.89	[{'connected_gene': 'SELP', 'score': 12.25}, {'connected_gene': 'SELE', 'score': 10.2}, {'connected_gene': 'SELL', 'score': 6.83}, {'connected_gene': 'F5', 'score': 0.37}]
chr1	GH01I169603	169603001	169603200	0.2	[{'connected_gene': 'SELP', 'score': 12.25}, {'connected_gene': 'SELE', 'score': 10.19}, {'connected_gene': 'F5', 'score': 0.37}]
chr1	GH01I169602	169602601	169602800	0.2	[{'connected_gene': 'SELP', 'score': 12.25}, {'connected_gene': 'SELE', 'score': 10.19}, {'connected_gene': 'F5', 'score': 0.37}]
chr1	GH01I169600	169600863	169602417	0.79	[{'connected_gene': 'SELP', 'score': 11.4}, {'connected_gene': 'C1orf112', 'score': 10.96}, {'connected_gene': 'METTL18', 'score': 10.83}, {'connected_gene': 'F5', 'score': 6.86}, {'connected_gene': 'SELL', 'score': 6.53}]
chr1	GH01I169608	169608001	169608673	0.2	[{'connected_gene': 'SELP', 'score': 12.03}, {'connected_gene': 'F5', 'score': 11.64}, {'connected_gene': 'C1orf112', 'score': 10.7}, {'connected_gene': 'METTL18', 'score': 10.56}, {'connected_gene': 'SELL', 'score': 6.96}]
chr1	GH01I169624	169624769	169625867	0.31	[{'connected_gene': 'SELP', 'score': 0.77}, {'connected_gene': 'F5', 'score': 0.28}]
chr1	GH01I169630	169630111	169630170	0.81	[{'connected_gene': 'SELP', 'score': 550.77}, {'connected_gene': 'F5', 'score': 0.26}]
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	GH01I169571	169571508	169573157	1.01	[{'connected_gene': 'F5', 'score': 11.09}, {'connected_gene': 'C1orf112', 'score': 9.9}, {'connected_gene': 'METTL18', 'score': 9.8}, {'connected_gene': 'SELE', 'score': 9.66}, {'connected_gene': 'SCYL3', 'score': 1.4}, {'connected_gene': 'GC01P169565', 'score': 0.44}]
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	GH01I169721	169721757	169724999	0.43	[{'connected_gene': 'GC01M169692', 'score': 550.77}, {'connected_gene': 'METTL18', 'score': 41.62}, {'connected_gene': 'F5', 'score': 10.78}, {'connected_gene': 'C1orf112', 'score': 10.59}, {'connected_gene': 'SCYL3', 'score': 6.62}, {'connected_gene': 'SELL', 'score': 0.39}, {'connected_gene': 'SELE', 'score': 0.26}]
chr1	GH01I169565	169565743	169565892	0.75	[{'connected_gene': 'GC01P169565', 'score': 550.77}, {'connected_gene': 'SELE', 'score': 10.38}, {'connected_gene': 'F5', 'score': 0.34}]
chr1	GH01I169649	169649258	169649968	0.2	[{'connected_gene': 'GC01P169651', 'score': 550.77}, {'connected_gene': 'F5', 'score': 10.44}, {'connected_gene': 'METTL18', 'score': 6.45}, {'connected_gene': 'SELP', 'score': 0.37}]
chr1	GH01I169517	169517703	169517852	0.57	[{'connected_gene': 'GC01P169489', 'score': 0.31}, {'connected_gene': 'GC01P169565', 'score': 0.25}, {'connected_gene': 'F5', 'score': 0.2}]
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}]