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
ENST00000236147	[[169659807, 169660943], [169665675, 169665694], [169670700, 169670829], [169672395, 169672581], [169673708, 169673894], [169676482, 169676590], [169677557, 169677944], [169679576, 169679658], [169680636, 169680839]]	[[169660924, 169660943], [169665675, 169665694], [169670700, 169670829], [169672395, 169672581], [169673708, 169673894], [169676482, 169676590], [169677557, 169677944], [169679576, 169679658], [169680636, 169680678]]
ENST00000497295	[[169660821, 169660943], [169665675, 169665694], [169672395, 169672470]]	None
ENST00000463108	[[169670635, 169670829], [169672395, 169672581], [169673708, 169673894], [169676482, 169676590], [169677557, 169677944], [169679576, 169679658], [169680636, 169680839]]	None
ENST00000460650	[[169672245, 169672581], [169673708, 169673894]]	None
ENST00000479657	[[169672457, 169672581], [169673176, 169673235], [169673708, 169673894], [169676482, 169676590], [169677557, 169677781]]	None
ENST00000466340	[[169673867, 169673894], [169676482, 169676590], [169677557, 169677944], [169679576, 169679673]]	None
NR_029467	[[169659805, 169660943], [169665675, 169665694], [169670700, 169670829], [169672395, 169672581], [169673708, 169673894], [169676482, 169676590], [169677557, 169677997]]	None
NM_000655	[[169659805, 169660943], [169665675, 169665694], [169670700, 169670829], [169672395, 169672581], [169673708, 169673894], [169676482, 169676590], [169677557, 169677944], [169679576, 169679658], [169680636, 169680843]]	[[169660924, 169660943], [169665675, 169665694], [169670700, 169670829], [169672395, 169672581], [169673708, 169673894], [169676482, 169676590], [169677557, 169677944], [169679576, 169679658], [169680636, 169680678]]

Promoter

Chrom	Start	End	Description
chr1	169672561	169672572	CAGE_peak_12_at_SELL_5end
chr1	169673882	169673893	CAGE_peak_9_at_SELL_5end
chr1	169677928	169678005	CAGE_peak_3_at_SELL_5end
chr1	169680727	169680738	CAGE_peak_2_at_SELL_5end
chr1	169680745	169680771	CAGE_peak_1_at_SELL_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I169679	169679724	169682568	0.79	[{'connected_gene': 'METTL18', 'score': 23.71}, {'connected_gene': 'SELP', 'score': 10.78}, {'connected_gene': 'SELL', 'score': 5.67}, {'connected_gene': 'C1orf112', 'score': 0.37}]
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	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	GH01I169678	169678635	169679635	0.2	[{'connected_gene': 'SELP', 'score': 11.11}, {'connected_gene': 'METTL18', 'score': 9.61}, {'connected_gene': 'C1orf112', 'score': 0.37}, {'connected_gene': 'SELL', 'score': 0.29}]
chr1	GH01I169676	169676000	169676401	0.71	[{'connected_gene': 'SELP', 'score': 11.11}, {'connected_gene': 'METTL18', 'score': 7.74}, {'connected_gene': 'C1orf112', 'score': 0.39}, {'connected_gene': 'SELL', 'score': 0.28}]
chr1	GH01I169667	169667001	169668400	0.94	[{'connected_gene': 'SELP', 'score': 25.34}, {'connected_gene': 'METTL18', 'score': 13.5}, {'connected_gene': 'DPT', 'score': 10.11}, {'connected_gene': 'SELL', 'score': 9.98}, {'connected_gene': 'C1orf112', 'score': 0.44}]
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	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	GH01I169671	169671629	169672540	0.2	[{'connected_gene': 'SELP', 'score': 11.12}, {'connected_gene': 'C1orf112', 'score': 0.39}, {'connected_gene': 'SELL', 'score': 0.28}]
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	GH01I169707	169707887	169712789	2.12	[{'connected_gene': 'SELL', 'score': 550.77}, {'connected_gene': 'METTL18', 'score': 40.93}, {'connected_gene': 'RN7SL333P', 'score': 27.73}, {'connected_gene': 'GORAB', 'score': 22.05}, {'connected_gene': 'SCYL3', 'score': 19.78}, {'connected_gene': 'C1orf112', 'score': 15.13}, {'connected_gene': 'GC01M169692', 'score': 0.39}]
chr1	GH01I169641	169641403	169642177	0.2	[{'connected_gene': 'SELE', 'score': 9.46}, {'connected_gene': 'SELL', 'score': 8.74}, {'connected_gene': 'GC01P169651', 'score': 0.44}, {'connected_gene': 'SELP', 'score': 0.39}]
chr1	GH01I169662	169662201	169662800	0.49	[{'connected_gene': 'C1orf112', 'score': 550.77}, {'connected_gene': 'METTL18', 'score': 12.91}, {'connected_gene': 'SELP', 'score': 11.38}, {'connected_gene': 'SELL', 'score': 9.46}]
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}]