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
ENST00000371250	[[56960418, 56962348], [56977647, 56977824], [56989494, 56989552], [56989948, 56990226], [57002626, 57002784], [57044550, 57045241]]	[[56962222, 56962348], [56977647, 56977824], [56989494, 56989552], [56989948, 56990226], [57002626, 57002784], [57044550, 57044689]]
ENST00000461655	[[56989979, 56990226], [57002626, 57002784], [57109140, 57109297], [57110890, 57110974]]	None
ENST00000472957	[[56961947, 56962348], [56977647, 56977824], [56982560, 56982678]]	None
ENST00000459962	[[56962105, 56962348], [56977647, 56979443]]	None
ENST00000476206	[[57044840, 57045257], [57109172, 57109297], [57110890, 57110945]]	None
NM_003713	[[56960418, 56962348], [56977647, 56977824], [56989494, 56989552], [56989948, 56990226], [57002626, 57002784], [57044550, 57045257]]	[[56962222, 56962348], [56977647, 56977824], [56989494, 56989552], [56989948, 56990226], [57002626, 57002784], [57044550, 57044689]]

Promoter

Chrom	Start	End	Description
chr1	56982672	56982686	CAGE_peak_8_at_PPAP2B_5end
chr1	56982690	56982709	CAGE_peak_7_at_PPAP2B_5end
chr1	57044697	57044720	CAGE_peak_9_at_PPAP2B_5end
chr1	57044866	57044882	CAGE_peak_10_at_PPAP2B_5end
chr1	57044893	57044934	CAGE_peak_5_at_PPAP2B_5end
chr1	57044945	57044953	CAGE_peak_13_at_PPAP2B_5end
chr1	57044968	57044971	CAGE_peak_14_at_PPAP2B_5end
chr1	57044980	57045112	CAGE_peak_1_at_PPAP2B_5end
chr1	57045115	57045143	CAGE_peak_6_at_PPAP2B_5end
chr1	57045207	57045226	CAGE_peak_2_at_PPAP2B_5end
chr1	57045228	57045242	CAGE_peak_3_at_PPAP2B_5end
chr1	57045325	57045336	CAGE_peak_4_at_PPAP2B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I056574	56574800	56582386	2.5	[{'connected_gene': 'PLPP3', 'score': 554.69}, {'connected_gene': 'C8A', 'score': 8.33}, {'connected_gene': 'FYB2', 'score': 7.87}, {'connected_gene': 'C8B', 'score': 6.59}, {'connected_gene': 'PRKAA2', 'score': 4.96}, {'connected_gene': 'RPL23AP85', 'score': 0.44}, {'connected_gene': 'GC01P056539', 'score': 0.26}]
chr1	GH01I056676	56676027	56678076	0.84	[{'connected_gene': 'PLPP3', 'score': 11.24}, {'connected_gene': 'PRKAA2', 'score': 11.24}, {'connected_gene': 'GC01M056666', 'score': 0.77}, {'connected_gene': 'GC01P056713', 'score': 0.28}]
chr1	GH01I056644	56644011	56646533	1.87	[{'connected_gene': 'PLPP3', 'score': 550.77}, {'connected_gene': 'LOC101929935', 'score': 550.77}, {'connected_gene': 'PRKAA2', 'score': 550.77}, {'connected_gene': 'GC01M056607', 'score': 0.39}]
chr1	GH01I056547	56547448	56548719	1.16	[{'connected_gene': 'PLPP3', 'score': 6.99}, {'connected_gene': 'GC01P056539', 'score': 0.44}, {'connected_gene': 'RPL23AP85', 'score': 0.28}]
chr1	GH01I055684	55684426	55687069	0.38	[{'connected_gene': 'PLPP3', 'score': 6.52}, {'connected_gene': 'ENSG00000234810', 'score': 0.15}, {'connected_gene': 'GC01P055807', 'score': 0.13}]
chr1	GH01I057422	57422141	57423682	1.02	[{'connected_gene': 'PLPP3', 'score': 5.27}, {'connected_gene': 'ENSG00000227935', 'score': 0.28}, {'connected_gene': 'GC01P057473', 'score': 0.23}]
chr1	GH01I055703	55703453	55704597	0.4	[{'connected_gene': 'PLPP3', 'score': 5.67}, {'connected_gene': 'GC01P055807', 'score': 0.15}, {'connected_gene': 'ENSG00000234810', 'score': 0.13}]
chr1	GH01I057423	57423800	57424401	1.26	[{'connected_gene': 'PLPP3', 'score': 5.3}, {'connected_gene': 'ENSG00000227935', 'score': 0.28}, {'connected_gene': 'GC01P057473', 'score': 0.25}]
chr1	GH01I055712	55712276	55712959	0.4	[{'connected_gene': 'PLPP3', 'score': 5.76}, {'connected_gene': 'GC01P055807', 'score': 0.15}, {'connected_gene': 'ENSG00000234810', 'score': 0.12}]
chr1	GH01I055699	55699848	55701319	0.4	[{'connected_gene': 'PLPP3', 'score': 6.57}, {'connected_gene': 'GC01P055807', 'score': 0.14}, {'connected_gene': 'ENSG00000234810', 'score': 0.13}]
chr1	GH01I055714	55714699	55721584	1.49	[{'connected_gene': 'PLPP3', 'score': 5.92}, {'connected_gene': 'GC01P055807', 'score': 0.17}, {'connected_gene': 'ENSG00000234810', 'score': 0.12}]
chr1	GH01I055693	55693755	55698038	1.06	[{'connected_gene': 'PLPP3', 'score': 6.81}, {'connected_gene': 'ENSG00000234810', 'score': 0.14}, {'connected_gene': 'GC01P055807', 'score': 0.14}]
chr1	GH01I056561	56561398	56567388	1.31	[{'connected_gene': 'RPL23AP85', 'score': 0.34}, {'connected_gene': 'GC01P056539', 'score': 0.31}, {'connected_gene': 'PLPP3', 'score': 0.18}]
chr1	GH01I056570	56570920	56571463	1.25	[{'connected_gene': 'RPL23AP85', 'score': 0.37}, {'connected_gene': 'GC01P056539', 'score': 0.29}, {'connected_gene': 'PLPP3', 'score': 0.19}]
chr1	GH01I056568	56568862	56570343	1.34	[{'connected_gene': 'RPL23AP85', 'score': 0.37}, {'connected_gene': 'GC01P056539', 'score': 0.29}, {'connected_gene': 'PLPP3', 'score': 0.18}]
chr1	GH01I056572	56572073	56573930	0.9	[{'connected_gene': 'RPL23AP85', 'score': 0.39}, {'connected_gene': 'GC01P056539', 'score': 0.29}, {'connected_gene': 'PLPP3', 'score': 0.19}]
chr1	GH01I056585	56585000	56585201	0.84	[{'connected_gene': 'RPL23AP85', 'score': 550.77}, {'connected_gene': 'GC01P056539', 'score': 0.25}, {'connected_gene': 'PLPP3', 'score': 0.21}]
chr1	GH01I056532	56532429	56538163	1.12	[{'connected_gene': 'RPL21P23', 'score': 0.77}, {'connected_gene': 'ENSG00000284686', 'score': 0.39}, {'connected_gene': 'PLPP3', 'score': 0.14}]
chr1	GH01I056627	56627732	56627857	0.63	[{'connected_gene': 'GC01M056607', 'score': 0.77}, {'connected_gene': 'ENSG00000225475', 'score': 0.44}, {'connected_gene': 'PLPP3', 'score': 0.37}, {'connected_gene': 'LOC101929935', 'score': 0.37}]
chr1	GH01I056505	56505090	56512178	1.7	[{'connected_gene': 'ENSG00000284686', 'score': 0.37}, {'connected_gene': 'ENSG00000260971', 'score': 0.29}, {'connected_gene': 'PLPP3', 'score': 0.12}]
chr1	GH01I056523	56523609	56524628	0.2	[{'connected_gene': 'ENSG00000284686', 'score': 550.77}, {'connected_gene': 'ENSG00000260971', 'score': 0.25}, {'connected_gene': 'PLPP3', 'score': 0.13}]
chr1	GH01I056512	56512765	56513884	0.46	[{'connected_gene': 'ENSG00000284686', 'score': 0.39}, {'connected_gene': 'ENSG00000260971', 'score': 0.28}, {'connected_gene': 'PLPP3', 'score': 0.12}]
chr1	GH01I056514	56514089	56518550	1.33	[{'connected_gene': 'ENSG00000284686', 'score': 0.44}, {'connected_gene': 'ENSG00000260971', 'score': 0.28}, {'connected_gene': 'PLPP3', 'score': 0.13}]
chr1	GH01I056493	56493379	56497853	1.14	[{'connected_gene': 'ENSG00000260971', 'score': 0.37}, {'connected_gene': 'ENSG00000284686', 'score': 0.31}, {'connected_gene': 'PLPP3', 'score': 0.11}]
chr1	GH01I056502	56502229	56503382	1.26	[{'connected_gene': 'ENSG00000284686', 'score': 0.34}, {'connected_gene': 'ENSG00000260971', 'score': 0.31}, {'connected_gene': 'PLPP3', 'score': 0.11}]
chr1	GH01I056521	56521556	56522432	0.31	[{'connected_gene': 'ENSG00000284686', 'score': 0.77}, {'connected_gene': 'ENSG00000260971', 'score': 0.26}, {'connected_gene': 'PLPP3', 'score': 0.13}]
chr1	GH01I056519	56519193	56520502	0.49	[{'connected_gene': 'ENSG00000284686', 'score': 0.77}, {'connected_gene': 'ENSG00000260971', 'score': 0.26}, {'connected_gene': 'PLPP3', 'score': 0.13}]
chr1	GH01I055774	55774431	55776762	0.63	[{'connected_gene': 'ENSG00000234810', 'score': 6.29}, {'connected_gene': 'PLPP3', 'score': 5.7}, {'connected_gene': 'GC01P055807', 'score': 0.29}]
chr1	GH01I056590	56590648	56590797	0.52	[{'connected_gene': 'GC01P056588', 'score': 0.77}, {'connected_gene': 'GC01M056597', 'score': 0.39}, {'connected_gene': 'PLPP3', 'score': 0.23}]
chr1	GH01I056522	56522769	56522918	0.51	[{'connected_gene': 'ENSG00000284686', 'score': 550.77}, {'connected_gene': 'ENSG00000260971', 'score': 0.25}, {'connected_gene': 'PLPP3', 'score': 0.13}]
chr1	GH01I056559	56559802	56560926	0.43	[{'connected_gene': 'GC01P056539', 'score': 0.34}, {'connected_gene': 'RPL23AP85', 'score': 0.31}, {'connected_gene': 'PLPP3', 'score': 0.18}]
chr1	GH01I056554	56554956	56555589	0.46	[{'connected_gene': 'GC01P056539', 'score': 0.37}, {'connected_gene': 'RPL23AP85', 'score': 0.29}, {'connected_gene': 'PLPP3', 'score': 0.16}]
chr1	GH01I056543	56543705	56546324	0.88	[{'connected_gene': 'GC01P056539', 'score': 0.44}, {'connected_gene': 'RPL23AP85', 'score': 0.26}, {'connected_gene': 'PLPP3', 'score': 0.15}]
chr1	GH01I056557	56557078	56559077	0.49	[{'connected_gene': 'GC01P056539', 'score': 0.37}, {'connected_gene': 'RPL23AP85', 'score': 0.31}, {'connected_gene': 'PLPP3', 'score': 0.17}]
chr1	GH01I056549	56549395	56551884	0.89	[{'connected_gene': 'GC01P056539', 'score': 0.39}, {'connected_gene': 'RPL23AP85', 'score': 0.28}, {'connected_gene': 'PLPP3', 'score': 0.16}]
chr1	GH01I056555	56555645	56556408	0.38	[{'connected_gene': 'GC01P056539', 'score': 0.37}, {'connected_gene': 'RPL23AP85', 'score': 0.29}, {'connected_gene': 'PLPP3', 'score': 0.17}]
chr1	GH01I056552	56552198	56554671	0.31	[{'connected_gene': 'GC01P056539', 'score': 0.39}, {'connected_gene': 'RPL23AP85', 'score': 0.29}, {'connected_gene': 'PLPP3', 'score': 0.16}]
chr1	GH01I056560	56559209	56559574	0.47	[{'connected_gene': 'GC01P056539', 'score': 0.34}, {'connected_gene': 'RPL23AP85', 'score': 0.31}, {'connected_gene': 'PLPP3', 'score': 0.17}]
chr1	GH01I056525	56525382	56528572	1.6	[{'connected_gene': 'ENSG00000284686', 'score': 0.77}, {'connected_gene': 'RPL21P23', 'score': 0.39}, {'connected_gene': 'PLPP3', 'score': 0.13}]
chr1	GH01I056529	56529740	56531300	0.38	[{'connected_gene': 'ENSG00000284686', 'score': 0.44}, {'connected_gene': 'RPL21P23', 'score': 0.44}, {'connected_gene': 'PLPP3', 'score': 0.14}]
chr1	GH01I056538	56538555	56542887	0.66	[{'connected_gene': 'GC01P056539', 'score': 0.77}, {'connected_gene': 'RPL21P23', 'score': 0.77}, {'connected_gene': 'RPL23AP85', 'score': 0.25}, {'connected_gene': 'PLPP3', 'score': 0.15}]