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
ENST00000548075	[[79968758, 79968847], [79986390, 79986473], [79988108, 79988213], [79990290, 79990438], [79991595, 79991762]]	None
ENST00000328827	[[79978653, 79986473], [79988108, 79988213], [79990290, 79990438], [80007354, 80007389], [80014855, 80014987], [80083508, 80084171], [80084651, 80084877]]	[[79986386, 79986473], [79988108, 79988213], [79990290, 79990438], [80007354, 80007389], [80014855, 80014987], [80083508, 80084024]]
ENST00000550603	[[79978658, 79978928], [79986390, 79986473], [79988108, 79988213], [79990290, 79990314]]	[[79978921, 79978928], [79986390, 79986473], [79988108, 79988213], [79990290, 79990314]]
ENST00000549050	[[79983571, 79984061], [80025885, 80025942]]	None
ENST00000547699	[[79986294, 79986473], [79988108, 79988213], [79990290, 79990869]]	None
ENST00000551712	[[79997447, 79998501], [80007354, 80007389], [80014855, 80014987], [80083508, 80083860]]	[[79998437, 79998501], [80007354, 80007389], [80014855, 80014987], [80083508, 80083860]]
ENST00000550006	[[80014894, 80014987], [80029329, 80029400], [80083508, 80083837]]	None
ENST00000547571	[[80061758, 80062188], [80083508, 80083810]]	None
ENST00000547016	[[80082151, 80082245], [80083508, 80083841]]	None
ENST00000548426	[[80083797, 80084171], [80084474, 80084594]]	[[80083797, 80084024]]
ENST00000552637	[[80083833, 80084171], [80084335, 80084361]]	[[80083833, 80084024]]
NM_002583	[[79985744, 79986473], [79988108, 79988213], [79990290, 79990438], [80007354, 80007389], [80014855, 80014987], [80083508, 80084171], [80084651, 80084790]]	[[79986386, 79986473], [79988108, 79988213], [79990290, 79990438], [80007354, 80007389], [80014855, 80014987], [80083508, 80084024]]

Promoter

Chrom	Start	End	Description
chr12	80083544	80083558	CAGE_peak_13_at_PAWR_5end
chr12	80083689	80083706	CAGE_peak_16_at_PAWR_5end
chr12	80083722	80083766	CAGE_peak_12_at_PAWR_5end
chr12	80083807	80083859	CAGE_peak_11_at_PAWR_5end
chr12	80083991	80084002	CAGE_peak_40_at_PAWR_5end
chr12	80084018	80084035	CAGE_peak_17_at_PAWR_5end
chr12	80084120	80084136	CAGE_peak_15_at_PAWR_5end
chr12	80084137	80084165	CAGE_peak_10_at_PAWR_5end
chr12	80084167	80084197	CAGE_peak_5_at_PAWR_5end
chr12	80084279	80084293	CAGE_peak_8_at_PAWR_5end
chr12	80084303	80084332	CAGE_peak_1_at_PAWR_5end
chr12	80084333	80084380	CAGE_peak_4_at_PAWR_5end
chr12	80084701	80084710	CAGE_peak_20_at_PAWR_5end
chr12	80084737	80084763	CAGE_peak_3_at_PAWR_5end
chr12	80084768	80084821	CAGE_peak_2_at_PAWR_5end
chr12	80084862	80084884	CAGE_peak_7_at_PAWR_5end
chr12	80085061	80085119	CAGE_peak_6_at_PAWR_5end
chr12	80085120	80085156	CAGE_peak_14_at_PAWR_5end
chr12	80085255	80085284	CAGE_peak_9_at_PAWR_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I079782	79782039	79782956	0.43	[{'connected_gene': 'PAWR', 'score': 9.97}, {'connected_gene': 'RPL7P38', 'score': 7.46}, {'connected_gene': 'ENSG00000277130', 'score': 0.28}, {'connected_gene': 'PPP1R12A', 'score': 0.1}]
chr12	GH12I079565	79565885	79567760	1.04	[{'connected_gene': 'PAWR', 'score': 10.91}, {'connected_gene': 'ENSG00000258044', 'score': 9.26}, {'connected_gene': 'NOP56P3', 'score': 0.44}, {'connected_gene': 'LOC105369864', 'score': 0.13}]
chr12	GH12I079618	79618312	79619996	0.31	[{'connected_gene': 'PAWR', 'score': 11.03}, {'connected_gene': 'NOP56P3', 'score': 0.21}, {'connected_gene': 'LOC105369864', 'score': 0.19}]
chr12	GH12I079545	79545520	79551281	1.61	[{'connected_gene': 'PAWR', 'score': 12.29}, {'connected_gene': 'ENSG00000258044', 'score': 10.78}, {'connected_gene': 'ENSG00000257894', 'score': 8.79}, {'connected_gene': 'ENSG00000257474', 'score': 0.44}, {'connected_gene': 'NOP56P3', 'score': 0.39}]
chr12	GH12I079554	79554674	79556243	0.82	[{'connected_gene': 'PAWR', 'score': 11.5}, {'connected_gene': 'ENSG00000258044', 'score': 10.34}, {'connected_gene': 'NOP56P3', 'score': 0.77}, {'connected_gene': 'ENSG00000257474', 'score': 0.37}]
chr12	GH12I080262	80262501	80262650	0.2	[{'connected_gene': 'PAWR', 'score': 9.38}, {'connected_gene': 'RN7SKP261', 'score': 0.18}, {'connected_gene': 'OTOGL', 'score': 0.12}]
chr12	GH12I079654	79654801	79655550	0.2	[{'connected_gene': 'PAWR', 'score': 11.24}, {'connected_gene': 'ENSG00000258044', 'score': 8.16}, {'connected_gene': 'LOC105369864', 'score': 0.29}, {'connected_gene': 'NOP56P3', 'score': 0.15}]
chr12	GH12I079725	79725313	79726876	0.52	[{'connected_gene': 'PAWR', 'score': 11.47}, {'connected_gene': 'LOC105369864', 'score': 0.28}, {'connected_gene': 'ENSG00000277130', 'score': 0.16}]
chr12	GH12I079407	79407829	79410822	1.14	[{'connected_gene': 'PAWR', 'score': 11.25}, {'connected_gene': 'ENSG00000258044', 'score': 4.27}, {'connected_gene': 'MIR1252', 'score': 0.44}, {'connected_gene': 'ENSG00000257894', 'score': 0.16}, {'connected_gene': 'LOC100420794', 'score': 0.15}, {'connected_gene': 'SYT1', 'score': 0.03}]
chr12	GH12I079367	79367301	79367450	0.49	[{'connected_gene': 'PAWR', 'score': 5.73}, {'connected_gene': 'MIR1252', 'score': 0.23}, {'connected_gene': 'LOC100420794', 'score': 0.22}, {'connected_gene': 'ENSG00000257894', 'score': 0.12}, {'connected_gene': 'SYT1', 'score': 0.03}]
chr12	GH12I079532	79531140	79532310	0.68	[{'connected_gene': 'PAWR', 'score': 4.47}, {'connected_gene': 'ENSG00000257474', 'score': 0.44}, {'connected_gene': 'GC12M079524', 'score': 0.44}]
chr12	GH12I079887	79887041	79887170	0.59	[{'connected_gene': 'PPP1R12A', 'score': 12.27}, {'connected_gene': 'PAWR', 'score': 10.16}, {'connected_gene': 'RPL7P38', 'score': 6.97}, {'connected_gene': 'RNA5SP363', 'score': 0.44}, {'connected_gene': 'GC12M079879', 'score': 0.44}, {'connected_gene': 'PPP1R12A-AS1', 'score': 0.25}]
chr12	GH12I079798	79798808	79800309	0.2	[{'connected_gene': 'RPL7P38', 'score': 4.88}, {'connected_gene': 'ENSG00000277130', 'score': 0.37}, {'connected_gene': 'PAWR', 'score': 0.14}, {'connected_gene': 'PPP1R12A', 'score': 0.12}]
chr12	GH12I079557	79557201	79561077	1.08	[{'connected_gene': 'NOP56P3', 'score': 550.77}, {'connected_gene': 'PAWR', 'score': 16.02}, {'connected_gene': 'ENSG00000258044', 'score': 10.78}, {'connected_gene': 'ENSG00000257894', 'score': 7.74}, {'connected_gene': 'LOC105369864', 'score': 0.12}]
chr12	GH12I079660	79660021	79660230	0.43	[{'connected_gene': 'LOC105369864', 'score': 0.29}, {'connected_gene': 'PAWR', 'score': 0.29}, {'connected_gene': 'NOP56P3', 'score': 0.15}]
chr12	GH12I079684	79684557	79693773	2.45	[{'connected_gene': 'LOC105369864', 'score': 550.77}, {'connected_gene': 'PAWR', 'score': 550.77}, {'connected_gene': 'ENSG00000258044', 'score': 10.22}, {'connected_gene': 'ENSG00000257894', 'score': 7.16}, {'connected_gene': 'NOP56P3', 'score': 0.12}]
chr12	GH12I079673	79673453	79673690	0.43	[{'connected_gene': 'LOC105369864', 'score': 0.37}, {'connected_gene': 'PAWR', 'score': 0.37}, {'connected_gene': 'NOP56P3', 'score': 0.14}]
chr12	GH12I079681	79681200	79681600	0.72	[{'connected_gene': 'LOC105369864', 'score': 0.44}, {'connected_gene': 'PAWR', 'score': 0.44}, {'connected_gene': 'NOP56P3', 'score': 0.13}]
chr12	GH12I079743	79743843	79744168	0.22	[{'connected_gene': 'LOC105369864', 'score': 0.23}, {'connected_gene': 'PAWR', 'score': 0.23}, {'connected_gene': 'ENSG00000277130', 'score': 0.18}]
chr12	GH12I079783	79783851	79785938	0.65	[{'connected_gene': 'ENSG00000277130', 'score': 0.29}, {'connected_gene': 'PAWR', 'score': 0.16}, {'connected_gene': 'PPP1R12A', 'score': 0.1}]
chr12	GH12I079818	79818961	79819110	0.38	[{'connected_gene': 'ENSG00000277130', 'score': 550.77}, {'connected_gene': 'PAWR', 'score': 0.13}, {'connected_gene': 'PPP1R12A', 'score': 0.13}]
chr12	GH12I079634	79634766	79636547	0.64	[{'connected_gene': 'ENSG00000258044', 'score': 10.05}, {'connected_gene': 'LOC105369864', 'score': 0.23}, {'connected_gene': 'PAWR', 'score': 0.22}, {'connected_gene': 'NOP56P3', 'score': 0.18}]
chr12	GH12I079705	79705821	79707334	0.8	[{'connected_gene': 'ENSG00000257894', 'score': 5.99}, {'connected_gene': 'LOC105369864', 'score': 0.37}, {'connected_gene': 'PAWR', 'score': 0.37}, {'connected_gene': 'ENSG00000277130', 'score': 0.14}]