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
ENST00000240617	[[14656594, 14656888], [14659095, 14659202], [14659866, 14660052], [14664193, 14664334], [14664444, 14664645], [14688592, 14688737], [14689503, 14689644], [14693697, 14693836], [14695141, 14695225], [14706126, 14706346], [14720515, 14721283]]	[[14656705, 14656888], [14659095, 14659202], [14659866, 14660052], [14664193, 14664334], [14664444, 14664645], [14688592, 14688737], [14689503, 14689644], [14693697, 14693836], [14695141, 14695225], [14706126, 14706346], [14720515, 14720630]]
ENST00000541800	[[14664193, 14664334], [14664444, 14664645], [14688592, 14689059]]	None
ENST00000541618	[[14664444, 14664645], [14688592, 14688737], [14689503, 14689644], [14693697, 14693836], [14695141, 14695225], [14720515, 14720662]]	[[14695217, 14695225], [14720515, 14720630]]
ENST00000540572	[[14689627, 14689644], [14693697, 14693836], [14695141, 14695225], [14706126, 14706346], [14707087, 14707180]]	[[14689627, 14689644], [14693697, 14693836], [14695141, 14695225], [14706126, 14706320]]
NM_024829	[[14656596, 14656888], [14659095, 14659202], [14659866, 14660052], [14664193, 14664334], [14664444, 14664645], [14688592, 14688737], [14689503, 14689644], [14693697, 14693836], [14695141, 14695225], [14706126, 14706346], [14720515, 14720791]]	[[14656705, 14656888], [14659095, 14659202], [14659866, 14660052], [14664193, 14664334], [14664444, 14664645], [14688592, 14688737], [14689503, 14689644], [14693697, 14693836], [14695141, 14695225], [14706126, 14706346], [14720515, 14720630]]

Promoter

Chrom	Start	End	Description
chr12	14720542	14720554	CAGE_peak_4_at_PLBD1_5end
chr12	14720648	14720822	CAGE_peak_1_at_PLBD1_5end
chr12	14720824	14720850	CAGE_peak_2_at_PLBD1_5end
chr12	14720884	14720897	CAGE_peak_3_at_PLBD1_5end
chr12	14721192	14721202	CAGE_peak_8_at_PLBD1_5end
chr12	14721288	14721299	CAGE_peak_10_at_PLBD1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I014643	14643867	14644800	0.69	[{'connected_gene': 'PLBD1', 'score': 6.08}, {'connected_gene': 'GC12P014627', 'score': 0.37}, {'connected_gene': 'ENSG00000214772', 'score': 0.34}, {'connected_gene': 'GUCY2C', 'score': 0.23}]
chr12	GH12I014566	14566730	14569351	1.92	[{'connected_gene': 'PLBD1', 'score': 556.91}, {'connected_gene': 'PLBD1-AS1', 'score': 556.44}, {'connected_gene': 'GUCY2C', 'score': 19.49}, {'connected_gene': 'ATF7IP', 'score': 12.36}, {'connected_gene': 'ENSG00000261324', 'score': 11.24}, {'connected_gene': 'ENSG00000214772', 'score': 10.71}, {'connected_gene': 'WBP11', 'score': 10.53}, {'connected_gene': 'HIST4H4', 'score': 9.92}]
chr12	GH12I014613	14613171	14615519	0.99	[{'connected_gene': 'PLBD1', 'score': 16.88}, {'connected_gene': 'PLBD1-AS1', 'score': 11.52}, {'connected_gene': 'GUCY2C', 'score': 10.66}, {'connected_gene': 'GC12P014627', 'score': 0.39}]
chr12	GH12I014289	14289709	14289919	0.43	[{'connected_gene': 'PLBD1', 'score': 3.34}, {'connected_gene': 'PIR56629', 'score': 0.44}, {'connected_gene': 'GC12M014297', 'score': 0.44}, {'connected_gene': 'GC12P014255', 'score': 0.29}]
chr12	GH12I014264	14264183	14265576	1.21	[{'connected_gene': 'PLBD1', 'score': 2.5}, {'connected_gene': 'GC12P014255', 'score': 0.44}, {'connected_gene': 'PIR56629', 'score': 0.29}, {'connected_gene': 'GC12M014297', 'score': 0.29}]
chr12	GH12I014272	14272802	14274601	1.37	[{'connected_gene': 'ATF7IP', 'score': 13.59}, {'connected_gene': 'RNU6-491P', 'score': 13.13}, {'connected_gene': 'RPL30P11', 'score': 12.41}, {'connected_gene': 'PLBD1', 'score': 7.01}, {'connected_gene': 'GC12P014255', 'score': 0.37}, {'connected_gene': 'PIR56629', 'score': 0.34}, {'connected_gene': 'GC12M014297', 'score': 0.34}]
chr12	GH12I014267	14267124	14268691	0.88	[{'connected_gene': 'ATF7IP', 'score': 12.01}, {'connected_gene': 'RPL30P11', 'score': 12.01}, {'connected_gene': 'PLBD1', 'score': 3.83}, {'connected_gene': 'GC12P014255', 'score': 0.39}, {'connected_gene': 'PIR56629', 'score': 0.31}, {'connected_gene': 'GC12M014297', 'score': 0.31}]
chr12	GH12I014945	14945763	14964864	2.65	[{'connected_gene': 'ARHGDIB', 'score': 572.66}, {'connected_gene': 'ERP27', 'score': 16.91}, {'connected_gene': 'PDE6H', 'score': 16.09}, {'connected_gene': 'WBP11', 'score': 12.28}, {'connected_gene': 'ART4', 'score': 11.35}, {'connected_gene': 'HIST4H4', 'score': 10.69}, {'connected_gene': 'H2AFJ', 'score': 10.69}, {'connected_gene': 'SMCO3', 'score': 10.41}, {'connected_gene': 'C12orf60', 'score': 10.32}, {'connected_gene': 'ENSG00000256339', 'score': 10.26}, {'connected_gene': 'MGP', 'score': 10.15}, {'connected_gene': 'PLBD1', 'score': 2.18}, {'connected_gene': 'LOC105369670', 'score': 0.29}]
chr12	GH12I014619	14619215	14619276	0.46	[{'connected_gene': 'GUCY2C', 'score': 10.58}, {'connected_gene': 'GC12P014627', 'score': 0.44}, {'connected_gene': 'PLBD1-AS1', 'score': 0.23}, {'connected_gene': 'PLBD1', 'score': 0.23}]
chr12	GH12I014976	14976696	14976969	0.59	[{'connected_gene': 'ERP27', 'score': 9.91}, {'connected_gene': 'ENSG00000256339', 'score': 9.77}, {'connected_gene': 'WBP11', 'score': 9.69}, {'connected_gene': 'C12orf60', 'score': 9.68}, {'connected_gene': 'MGP', 'score': 9.65}, {'connected_gene': 'SMCO3', 'score': 9.48}, {'connected_gene': 'PDE6H', 'score': 5.89}, {'connected_gene': 'PLBD1', 'score': 2.59}, {'connected_gene': 'GC12P014973', 'score': 0.77}, {'connected_gene': 'GC12P014974', 'score': 0.77}, {'connected_gene': 'LOC105369670', 'score': 0.39}]
chr12	GH12I014577	14577400	14577636	0.89	[{'connected_gene': 'HIST4H4', 'score': 10.18}, {'connected_gene': 'GUCY2C', 'score': 9.97}, {'connected_gene': 'PLBD1-AS1', 'score': 0.44}, {'connected_gene': 'PLBD1', 'score': 0.44}, {'connected_gene': 'GC12P014627', 'score': 0.25}]
chr12	GH12I014513	14513987	14515577	0.59	[{'connected_gene': 'RNU6-491P', 'score': 11.12}, {'connected_gene': 'GC12M014485', 'score': 0.44}, {'connected_gene': 'LOC101928317', 'score': 0.37}, {'connected_gene': 'PLBD1', 'score': 0.23}]
chr12	GH12I014540	14540233	14542462	0.2	[{'connected_gene': 'PLBD1-AS1', 'score': 18.03}, {'connected_gene': 'PLBD1', 'score': 12.37}, {'connected_gene': 'GUCY2C', 'score': 10.24}, {'connected_gene': 'ERP27', 'score': 5.19}, {'connected_gene': 'LOC101928317', 'score': 0.39}, {'connected_gene': 'GC12M014554', 'score': 0.39}, {'connected_gene': 'RN7SKP134', 'score': 0.39}]
chr12	GH12I014545	14545170	14546090	0.63	[{'connected_gene': 'PLBD1-AS1', 'score': 12.31}, {'connected_gene': 'PLBD1', 'score': 12.31}, {'connected_gene': 'GUCY2C', 'score': 9.49}, {'connected_gene': 'GC12M014554', 'score': 0.44}, {'connected_gene': 'RN7SKP134', 'score': 0.44}, {'connected_gene': 'LOC101928317', 'score': 0.37}]
chr12	GH12I014558	14558064	14559396	1.11	[{'connected_gene': 'PLBD1-AS1', 'score': 5.28}, {'connected_gene': 'PLBD1', 'score': 4.81}, {'connected_gene': 'GC12M014554', 'score': 0.77}, {'connected_gene': 'RN7SKP134', 'score': 0.77}]
chr12	GH12I014560	14560828	14563800	0.78	[{'connected_gene': 'PLBD1-AS1', 'score': 6.14}, {'connected_gene': 'ERP27', 'score': 5.92}, {'connected_gene': 'GC12M014554', 'score': 0.44}, {'connected_gene': 'RN7SKP134', 'score': 0.44}, {'connected_gene': 'PLBD1', 'score': 0.44}]
chr12	GH12I014255	14255242	14262413	2.02	[{'connected_gene': 'ENSG00000261324', 'score': 67.92}, {'connected_gene': 'ATF7IP', 'score': 46.65}, {'connected_gene': 'HIST4H4', 'score': 43.46}, {'connected_gene': 'WBP11', 'score': 21.42}, {'connected_gene': 'RPL30P11', 'score': 12.89}, {'connected_gene': 'H2AFJ', 'score': 11.0}, {'connected_gene': 'PLBD1', 'score': 1.7}, {'connected_gene': 'GC12P014255', 'score': 0.77}, {'connected_gene': 'GNAI2P1', 'score': 0.77}, {'connected_gene': 'GC12M014297', 'score': 0.28}, {'connected_gene': 'PIR56629', 'score': 0.28}]
chr12	GH12I014628	14628551	14630856	0.69	[{'connected_gene': 'ENSG00000261324', 'score': 15.72}, {'connected_gene': 'HIST4H4', 'score': 13.18}, {'connected_gene': 'PLBD1', 'score': 5.86}, {'connected_gene': 'GC12P014627', 'score': 0.77}, {'connected_gene': 'ENSG00000214772', 'score': 0.28}, {'connected_gene': 'GUCY2C', 'score': 0.2}]
chr12	GH12I014621	14621947	14622096	0.7	[{'connected_gene': 'ENSG00000214772', 'score': 11.1}, {'connected_gene': 'RNU6-491P', 'score': 11.05}, {'connected_gene': 'GUCY2C', 'score': 10.79}, {'connected_gene': 'GC12P014627', 'score': 0.44}, {'connected_gene': 'PLBD1', 'score': 0.23}]
chr12	GH12I014620	14619492	14621061	0.31	[{'connected_gene': 'ENSG00000214772', 'score': 11.09}, {'connected_gene': 'RNU6-491P', 'score': 11.05}, {'connected_gene': 'GUCY2C', 'score': 10.78}, {'connected_gene': 'GC12P014627', 'score': 0.44}, {'connected_gene': 'PLBD1-AS1', 'score': 0.23}, {'connected_gene': 'PLBD1', 'score': 0.23}]
chr12	GH12I014553	14553593	14555999	0.86	[{'connected_gene': 'GC12M014554', 'score': 550.77}, {'connected_gene': 'RN7SKP134', 'score': 550.77}, {'connected_gene': 'HIST4H4', 'score': 10.03}, {'connected_gene': 'GUCY2C', 'score': 8.44}, {'connected_gene': 'ERP27', 'score': 5.06}, {'connected_gene': 'PLBD1-AS1', 'score': 0.39}, {'connected_gene': 'PLBD1', 'score': 0.39}]