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
ENST00000261461	[[212458878, 212459633], [212502476, 212502673], [212506838, 212506940], [212515529, 212515622], [212519144, 212519275], [212520688, 212520748], [212521730, 212521839], [212522530, 212522584], [212529967, 212530018], [212530291, 212530411], [212530498, 212530626], [212532027, 212532129], [212533979, 212535200]]	[[212459452, 212459633], [212502476, 212502673], [212506838, 212506940], [212515529, 212515622], [212519144, 212519275], [212520688, 212520748], [212521730, 212521839], [212522530, 212522584], [212529967, 212530018], [212530291, 212530411], [212530498, 212530626], [212532027, 212532129], [212533979, 212534112]]
ENST00000537030	[[212475147, 212475434], [212502476, 212502673], [212506838, 212506940], [212515529, 212515622], [212519144, 212519275], [212520688, 212520748], [212521730, 212521839], [212522530, 212522584], [212529967, 212530018], [212530291, 212530411], [212530498, 212530626], [212532027, 212532129], [212533979, 212534264]]	[[212475424, 212475434], [212502476, 212502673], [212506838, 212506940], [212515529, 212515622], [212519144, 212519275], [212520688, 212520748], [212521730, 212521839], [212522530, 212522584], [212529967, 212530018], [212530291, 212530411], [212530498, 212530626], [212532027, 212532129], [212533979, 212534112]]
ENST00000498123	[[212475204, 212475434], [212492718, 212492887]]	None
ENST00000479259	[[212475204, 212475434], [212480124, 212480242], [212502476, 212502673], [212506838, 212506940], [212515529, 212515622]]	None
ENST00000498129	[[212475204, 212475434], [212487108, 212487158], [212502476, 212502673], [212506838, 212506940], [212507293, 212507366], [212515529, 212515622], [212519144, 212519225]]	None
NM_006243	[[212458878, 212459633], [212502476, 212502673], [212506838, 212506940], [212515529, 212515622], [212519144, 212519275], [212520688, 212520748], [212521730, 212521839], [212522530, 212522584], [212529967, 212530018], [212530291, 212530411], [212530498, 212530626], [212532027, 212532129], [212533979, 212535205]]	[[212459452, 212459633], [212502476, 212502673], [212506838, 212506940], [212515529, 212515622], [212519144, 212519275], [212520688, 212520748], [212521730, 212521839], [212522530, 212522584], [212529967, 212530018], [212530291, 212530411], [212530498, 212530626], [212532027, 212532129], [212533979, 212534112]]
NM_001199756	[[212475147, 212475434], [212502476, 212502673], [212506838, 212506940], [212515529, 212515622], [212519144, 212519275], [212520688, 212520748], [212521730, 212521839], [212522530, 212522584], [212529967, 212530018], [212530291, 212530411], [212530498, 212530626], [212532027, 212532129], [212533979, 212535205]]	[[212475424, 212475434], [212502476, 212502673], [212506838, 212506940], [212515529, 212515622], [212519144, 212519275], [212520688, 212520748], [212521730, 212521839], [212522530, 212522584], [212529967, 212530018], [212530291, 212530411], [212530498, 212530626], [212532027, 212532129], [212533979, 212534112]]

Promoter

Chrom	Start	End	Description
chr1	212458725	212458790	CAGE_peak_1_at_PPP2R5A_5end
chr1	212458834	212458896	CAGE_peak_2_at_PPP2R5A_5end
chr1	212458914	212458934	CAGE_peak_4_at_PPP2R5A_5end
chr1	212458951	212458962	CAGE_peak_5_at_PPP2R5A_5end
chr1	212459184	212459282	CAGE_peak_3_at_PPP2R5A_5end
chr1	212475195	212475207	CAGE_peak_18_at_PPP2R5A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I211815	211815000	211816008	0.76	[{'connected_gene': 'LPGAT1', 'score': 18.21}, {'connected_gene': 'NEK2', 'score': 10.64}, {'connected_gene': 'LOC91548', 'score': 10.64}, {'connected_gene': 'ENSG00000212187', 'score': 10.37}, {'connected_gene': 'INTS7', 'score': 4.68}, {'connected_gene': 'PPP2R5A', 'score': 4.46}, {'connected_gene': 'ENSG00000212205', 'score': 0.39}, {'connected_gene': 'LOC102723727', 'score': 0.39}]
chr1	GH01I212594	212594814	212598098	1.76	[{'connected_gene': 'ANGEL2', 'score': 24.66}, {'connected_gene': 'ATF3', 'score': 19.14}, {'connected_gene': 'FAM71A', 'score': 11.59}, {'connected_gene': 'ENSG00000235862', 'score': 11.57}, {'connected_gene': 'BATF3', 'score': 10.38}, {'connected_gene': 'FLVCR1', 'score': 10.24}, {'connected_gene': 'TMEM206', 'score': 9.75}, {'connected_gene': 'PPP2R5A', 'score': 1.36}, {'connected_gene': 'GC01M212615', 'score': 0.37}]
chr1	GH01I211547	211547617	211552886	1.36	[{'connected_gene': 'SLC30A1', 'score': 12.46}, {'connected_gene': 'PPP2R5A', 'score': 4.27}, {'connected_gene': 'GC01M211578', 'score': 0.31}, {'connected_gene': 'RD3', 'score': 0.22}]
chr1	GH01I212309	212309960	212311313	1.03	[{'connected_gene': 'RPL23AP18', 'score': 550.77}, {'connected_gene': 'PPP2R5A', 'score': 17.92}, {'connected_gene': 'TMEM206', 'score': 11.12}, {'connected_gene': 'DTL', 'score': 11.05}, {'connected_gene': 'INTS7', 'score': 11.05}, {'connected_gene': 'ENSG00000234915', 'score': 0.34}]
chr1	GH01I212306	212306764	212308276	0.77	[{'connected_gene': 'RPL23AP18', 'score': 550.77}, {'connected_gene': 'INTS7', 'score': 20.98}, {'connected_gene': 'FLVCR1', 'score': 18.62}, {'connected_gene': 'ANGEL2', 'score': 16.63}, {'connected_gene': 'TMEM206', 'score': 16.05}, {'connected_gene': 'DTL', 'score': 11.05}, {'connected_gene': 'RPL21P28', 'score': 11.02}, {'connected_gene': 'ENSG00000230063', 'score': 0.39}, {'connected_gene': 'PPP2R5A', 'score': 0.34}, {'connected_gene': 'ENSG00000234915', 'score': 0.34}]
chr1	GH01I211326	211326170	211330695	2.43	[{'connected_gene': 'TRAF5', 'score': 558.12}, {'connected_gene': 'LINC00467', 'score': 17.62}, {'connected_gene': 'RCOR3', 'score': 11.72}, {'connected_gene': 'PPP2R5A', 'score': 4.75}]
chr1	GH01I212301	212301809	212301868	0.7	[{'connected_gene': 'PPP2R5A', 'score': 550.37}, {'connected_gene': 'ENSG00000230063', 'score': 0.77}, {'connected_gene': 'RPL23AP18', 'score': 0.44}, {'connected_gene': 'ENSG00000234915', 'score': 0.31}]
chr1	GH01I212401	212401905	212403575	0.82	[{'connected_gene': 'PPP2R5A', 'score': 17.81}, {'connected_gene': 'ATF3', 'score': 11.78}, {'connected_gene': 'TMEM206', 'score': 6.74}, {'connected_gene': 'LOC101929541', 'score': 6.43}, {'connected_gene': 'LINC01740', 'score': 5.43}, {'connected_gene': 'PIR60492', 'score': 0.28}]
chr1	GH01I212247	212247201	212248761	1.16	[{'connected_gene': 'PPP2R5A', 'score': 23.62}, {'connected_gene': 'LOC101929541', 'score': 15.46}, {'connected_gene': 'TMEM206', 'score': 14.93}, {'connected_gene': 'ENSG00000212187', 'score': 10.17}, {'connected_gene': 'GC01P212241', 'score': 0.44}]
chr1	GH01I212244	212244302	212244754	0.75	[{'connected_gene': 'PPP2R5A', 'score': 23.6}, {'connected_gene': 'ENSG00000212187', 'score': 10.17}, {'connected_gene': 'GC01P212241', 'score': 0.77}, {'connected_gene': 'LOC101929541', 'score': 0.26}]
chr1	GH01I212289	212289987	212290197	0.72	[{'connected_gene': 'PPP2R5A', 'score': 0.77}, {'connected_gene': 'ENSG00000230063', 'score': 0.44}]
chr1	GH01I212311	212311878	212314720	0.2	[{'connected_gene': 'TMEM206', 'score': 23.33}, {'connected_gene': 'PPP2R5A', 'score': 17.92}, {'connected_gene': 'DTL', 'score': 11.22}, {'connected_gene': 'INTS7', 'score': 11.22}, {'connected_gene': 'RPL23AP18', 'score': 0.77}, {'connected_gene': 'ENSG00000234915', 'score': 0.37}]
chr1	GH01I212138	212138599	212138762	0.99	[{'connected_gene': 'TMEM206', 'score': 9.85}, {'connected_gene': 'PPP2R5A', 'score': 2.49}, {'connected_gene': 'GC01P212144', 'score': 0.44}, {'connected_gene': 'GC01M212087', 'score': 0.34}]
chr1	GH01I212312	212311634	212311706	0.22	[{'connected_gene': 'TMEM206', 'score': 11.12}, {'connected_gene': 'DTL', 'score': 11.05}, {'connected_gene': 'INTS7', 'score': 11.05}, {'connected_gene': 'RPL23AP18', 'score': 0.77}, {'connected_gene': 'ENSG00000234915', 'score': 0.34}, {'connected_gene': 'PPP2R5A', 'score': 0.31}]
chr1	GH01I212339	212339988	212340377	0.26	[{'connected_gene': 'TMEM206', 'score': 12.01}, {'connected_gene': 'DTL', 'score': 11.01}, {'connected_gene': 'INTS7', 'score': 11.01}, {'connected_gene': 'ENSG00000212187', 'score': 10.47}, {'connected_gene': 'PPP2R5A', 'score': 7.79}, {'connected_gene': 'ENSG00000234915', 'score': 0.44}, {'connected_gene': 'GC01P212353', 'score': 0.39}]
chr1	GH01I212464	212464045	212465703	0.43	[{'connected_gene': 'TMEM206', 'score': 24.29}, {'connected_gene': 'LOC105372907', 'score': 11.23}, {'connected_gene': 'ATF3', 'score': 11.04}, {'connected_gene': 'BATF3', 'score': 10.79}, {'connected_gene': 'PPP2R5A', 'score': 5.9}, {'connected_gene': 'NENF', 'score': 0.29}]
chr1	GH01I212413	212413887	212416275	2.24	[{'connected_gene': 'TMEM206', 'score': 576.3}, {'connected_gene': 'LOC101929541', 'score': 23.28}, {'connected_gene': 'PPP2R5A', 'score': 18.1}, {'connected_gene': 'PIR60492', 'score': 0.23}]
chr1	GH01I212315	212315777	212316446	0.94	[{'connected_gene': 'DTL', 'score': 11.22}, {'connected_gene': 'INTS7', 'score': 11.22}, {'connected_gene': 'ENSG00000212187', 'score': 10.42}, {'connected_gene': 'RPL23AP18', 'score': 0.44}, {'connected_gene': 'ENSG00000234915', 'score': 0.37}, {'connected_gene': 'PPP2R5A', 'score': 0.29}]
chr1	GH01I212430	212430081	212434264	2.19	[{'connected_gene': 'NENF', 'score': 550.77}, {'connected_gene': 'LOC105372906', 'score': 550.77}, {'connected_gene': 'LOC101929541', 'score': 32.97}, {'connected_gene': 'TMEM206', 'score': 20.27}, {'connected_gene': 'PPP2R5A', 'score': 15.39}, {'connected_gene': 'DTL', 'score': 10.0}, {'connected_gene': 'INTS7', 'score': 10.0}, {'connected_gene': 'ENSG00000212187', 'score': 9.55}, {'connected_gene': 'BATF3', 'score': 9.39}]
chr1	GH01I213050	213050183	213053260	2.07	[{'connected_gene': 'RPS6KC1', 'score': 589.57}, {'connected_gene': 'ANGEL2', 'score': 11.93}, {'connected_gene': 'PPP2R5A', 'score': 4.38}, {'connected_gene': 'GC01P213058', 'score': 0.44}]
chr1	GH01I212087	212087939	212089200	1.19	[{'connected_gene': 'INTS7', 'score': 19.42}, {'connected_gene': 'DTL', 'score': 10.86}, {'connected_gene': 'LOC102723727', 'score': 6.1}, {'connected_gene': 'PPP2R5A', 'score': 2.1}, {'connected_gene': 'GC01P212093', 'score': 0.77}, {'connected_gene': 'MIR3122', 'score': 0.39}, {'connected_gene': 'GC01M212087', 'score': 0.31}]
chr1	GH01I212634	212634528	212640217	1.67	[{'connected_gene': 'LOC105372909', 'score': 550.77}, {'connected_gene': 'ATF3', 'score': 12.25}, {'connected_gene': 'BATF3', 'score': 10.81}, {'connected_gene': 'RPS6KC1', 'score': 6.5}, {'connected_gene': 'FLVCR1-AS1', 'score': 4.77}, {'connected_gene': 'TATDN3', 'score': 4.57}, {'connected_gene': 'PPP2R5A', 'score': 2.55}, {'connected_gene': 'VASH2', 'score': 2.09}, {'connected_gene': 'ENSG00000235862', 'score': 0.39}, {'connected_gene': 'LOC102723761', 'score': 0.31}]
chr1	GH01I212254	212254013	212257599	1.58	[{'connected_gene': 'LOC101929541', 'score': 40.28}, {'connected_gene': 'PPP2R5A', 'score': 27.28}, {'connected_gene': 'TMEM206', 'score': 5.19}, {'connected_gene': 'LPGAT1', 'score': 4.08}, {'connected_gene': 'ATF3', 'score': 1.15}, {'connected_gene': 'GC01P212241', 'score': 0.39}]
chr1	GH01I212283	212283753	212288119	2.53	[{'connected_gene': 'LOC101929541', 'score': 599.55}, {'connected_gene': 'PPP2R5A', 'score': 569.49}, {'connected_gene': 'TMEM206', 'score': 21.28}, {'connected_gene': 'INTS7', 'score': 1.25}, {'connected_gene': 'ENSG00000230063', 'score': 0.39}]
chr1	GH01I212178	212178901	212180643	0.77	[{'connected_gene': 'LOC101929541', 'score': 17.06}, {'connected_gene': 'PPP2R5A', 'score': 15.67}, {'connected_gene': 'TMEM206', 'score': 4.35}, {'connected_gene': 'ENSG00000229983', 'score': 0.39}, {'connected_gene': 'GC01M212205', 'score': 0.31}]
chr1	GH01I212228	212228139	212229934	1.12	[{'connected_gene': 'LOC101929541', 'score': 21.24}, {'connected_gene': 'PPP2R5A', 'score': 16.33}, {'connected_gene': 'FLVCR1', 'score': 4.22}, {'connected_gene': 'GC01P212241', 'score': 0.39}, {'connected_gene': 'GC01M212205', 'score': 0.34}]
chr1	GH01I212260	212260423	212262151	1.31	[{'connected_gene': 'LOC101929541', 'score': 40.63}, {'connected_gene': 'PPP2R5A', 'score': 25.56}, {'connected_gene': 'FLVCR1', 'score': 4.29}, {'connected_gene': 'GC01P212241', 'score': 0.37}]
chr1	GH01I212224	212224959	212226648	1.01	[{'connected_gene': 'LOC101929541', 'score': 21.17}, {'connected_gene': 'PPP2R5A', 'score': 11.79}, {'connected_gene': 'GC01P212241', 'score': 0.37}, {'connected_gene': 'GC01M212205', 'score': 0.34}]
chr1	GH01I212205	212205712	212210668	0.69	[{'connected_gene': 'LOC101929541', 'score': 22.22}, {'connected_gene': 'PPP2R5A', 'score': 6.29}, {'connected_gene': 'GC01M212205', 'score': 0.77}, {'connected_gene': 'GC01P212241', 'score': 0.29}]
chr1	GH01I212227	212227518	212228109	0.38	[{'connected_gene': 'LOC101929541', 'score': 19.9}, {'connected_gene': 'PPP2R5A', 'score': 16.84}, {'connected_gene': 'GC01P212241', 'score': 0.39}, {'connected_gene': 'GC01M212205', 'score': 0.34}]
chr1	GH01I212218	212218478	212220347	1.08	[{'connected_gene': 'LOC101929541', 'score': 21.76}, {'connected_gene': 'PPP2R5A', 'score': 16.81}, {'connected_gene': 'GC01M212205', 'score': 0.39}, {'connected_gene': 'GC01P212241', 'score': 0.34}]
chr1	GH01I212186	212186401	212187489	0.8	[{'connected_gene': 'LOC101929541', 'score': 15.83}, {'connected_gene': 'PPP2R5A', 'score': 6.97}, {'connected_gene': 'GC01M212205', 'score': 0.37}, {'connected_gene': 'ENSG00000229983', 'score': 0.37}]
chr1	GH01I212290	212290601	212291788	1.29	[{'connected_gene': 'LOC101929541', 'score': 37.58}, {'connected_gene': 'TMEM206', 'score': 6.32}, {'connected_gene': 'PPP2R5A', 'score': 0.44}, {'connected_gene': 'ENSG00000230063', 'score': 0.44}]
chr1	GH01I212118	212118229	212118467	0.79	[{'connected_gene': 'GC01M212087', 'score': 550.77}, {'connected_gene': 'PPP2R5A', 'score': 2.3}, {'connected_gene': 'PIR35796', 'score': 0.39}, {'connected_gene': 'GC01P212105', 'score': 0.39}]
chr1	GH01I212292	212292601	212292800	0.4	[{'connected_gene': 'ENSG00000230063', 'score': 0.77}, {'connected_gene': 'PPP2R5A', 'score': 0.44}]
chr1	GH01I212664	212664839	212669048	2.01	[{'connected_gene': 'ENSG00000237980', 'score': 550.77}, {'connected_gene': 'LOC102723761', 'score': 550.77}, {'connected_gene': 'FAM71A', 'score': 11.15}, {'connected_gene': 'DTL', 'score': 9.89}, {'connected_gene': 'SPATA45', 'score': 8.99}, {'connected_gene': 'PPP2R5A', 'score': 6.03}, {'connected_gene': 'ATF3', 'score': 6.0}, {'connected_gene': 'BATF3', 'score': 5.17}, {'connected_gene': 'ANGEL2', 'score': 4.61}, {'connected_gene': 'RPS6KC1', 'score': 2.72}, {'connected_gene': 'GC01P212693', 'score': 0.31}]