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
ENST00000599265	[[17905636, 17905692], [17918566, 17919183], [17922379, 17922562]]	[[17918616, 17919183], [17922379, 17922562]]
ENST00000318683	[[17905918, 17906015], [17918566, 17919183], [17922379, 17923891]]	[[17918616, 17919183], [17922379, 17922931]]
ENST00000600777	[[17905944, 17905982], [17918566, 17918998]]	[[17918616, 17918998]]
ENST00000595387	[[17905965, 17906015], [17918547, 17919183], [17922379, 17923042]]	[[17918616, 17919183], [17922379, 17922931]]
NM_014256	[[17905918, 17906015], [17918566, 17919183], [17922379, 17924385]]	[[17918616, 17919183], [17922379, 17922931]]

Promoter

Chrom	Start	End	Description
chr19	17905594	17905645	CAGE_peak_2_at_B3GNT3_5end
chr19	17905938	17905980	CAGE_peak_1_at_B3GNT3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I017829	17829788	17831997	1.24	[{'connected_gene': 'MVB12A', 'score': 21.2}, {'connected_gene': 'ENSG00000268030', 'score': 21.16}, {'connected_gene': 'ENSG00000268938', 'score': 17.66}, {'connected_gene': 'COLGALT1', 'score': 15.5}, {'connected_gene': 'ENSG00000269191', 'score': 15.08}, {'connected_gene': 'B3GNT3', 'score': 13.06}, {'connected_gene': 'HAUS8', 'score': 12.44}, {'connected_gene': 'IQCN', 'score': 11.3}, {'connected_gene': 'ELL', 'score': 10.26}, {'connected_gene': 'BST2', 'score': 10.14}, {'connected_gene': 'ENSG00000268743', 'score': 9.91}, {'connected_gene': 'INSL3', 'score': 6.15}, {'connected_gene': 'USE1', 'score': 5.26}, {'connected_gene': 'GC19M017837', 'score': 0.44}, {'connected_gene': 'JAK3', 'score': 0.37}]
chr19	GH19I017787	17787557	17787950	0.31	[{'connected_gene': 'MPV17L2', 'score': 4.55}, {'connected_gene': 'B3GNT3', 'score': 0.44}, {'connected_gene': 'GC19M017755', 'score': 0.34}, {'connected_gene': 'FCHO1', 'score': 0.26}]
chr19	GH19I017718	17718656	17722501	1.47	[{'connected_gene': 'MAP1S', 'score': 556.43}, {'connected_gene': 'FCHO1', 'score': 17.6}, {'connected_gene': 'UNC13A', 'score': 12.63}, {'connected_gene': 'B3GNT3', 'score': 12.3}, {'connected_gene': 'GC19P020228', 'score': 0.34}]
chr19	GH19I017716	17716892	17718200	1.11	[{'connected_gene': 'MAP1S', 'score': 557.49}, {'connected_gene': 'UNC13A', 'score': 12.65}, {'connected_gene': 'B3GNT3', 'score': 11.94}, {'connected_gene': 'PIR50741', 'score': 0.37}]
chr19	GH19I017762	17762179	17763241	1.2	[{'connected_gene': 'MAP1S', 'score': 12.46}, {'connected_gene': 'B3GNT3', 'score': 12.42}, {'connected_gene': 'INSL3', 'score': 11.78}, {'connected_gene': 'PLVAP', 'score': 11.59}, {'connected_gene': 'NXNL1', 'score': 11.53}, {'connected_gene': 'F2RL3', 'score': 11.06}, {'connected_gene': 'GC19M017755', 'score': 0.77}, {'connected_gene': 'GC19P020271', 'score': 0.44}, {'connected_gene': 'FCHO1', 'score': 0.39}]
chr19	GH19I017759	17759844	17761390	0.2	[{'connected_gene': 'MAP1S', 'score': 12.46}, {'connected_gene': 'B3GNT3', 'score': 12.42}, {'connected_gene': 'INSL3', 'score': 11.77}, {'connected_gene': 'NXNL1', 'score': 11.54}, {'connected_gene': 'FCHO1', 'score': 9.85}, {'connected_gene': 'GC19M017755', 'score': 0.77}, {'connected_gene': 'GC19P020271', 'score': 0.44}]
chr19	GH19I017758	17758070	17759552	0.49	[{'connected_gene': 'MAP1S', 'score': 12.47}, {'connected_gene': 'B3GNT3', 'score': 12.4}, {'connected_gene': 'INSL3', 'score': 11.77}, {'connected_gene': 'NXNL1', 'score': 11.54}, {'connected_gene': 'FCHO1', 'score': 10.96}, {'connected_gene': 'GC19P020271', 'score': 0.44}, {'connected_gene': 'GC19M017755', 'score': 0.44}]
chr19	GH19I017738	17738707	17739911	1.06	[{'connected_gene': 'MAP1S', 'score': 13.1}, {'connected_gene': 'B3GNT3', 'score': 12.14}, {'connected_gene': 'FCHO1', 'score': 9.37}, {'connected_gene': 'GC19P020228', 'score': 0.77}, {'connected_gene': 'LOC105372299', 'score': 0.39}]
chr19	GH19I018253	18253150	18255860	1.1	[{'connected_gene': 'PDE4C', 'score': 582.17}, {'connected_gene': 'LOC729966', 'score': 550.77}, {'connected_gene': 'B3GNT3', 'score': 2.19}, {'connected_gene': 'LOC102725254', 'score': 0.25}]
chr19	GH19I017845	17845797	17851953	2.18	[{'connected_gene': 'JAK3', 'score': 563.67}, {'connected_gene': 'FCHO1', 'score': 13.96}, {'connected_gene': 'B3GNT3', 'score': 12.85}, {'connected_gene': 'INSL3', 'score': 12.75}, {'connected_gene': 'UNC13A', 'score': 11.27}, {'connected_gene': 'RPL18A', 'score': 9.78}, {'connected_gene': 'MAST3', 'score': 5.47}, {'connected_gene': 'FAM129C', 'score': 4.11}, {'connected_gene': 'IL12RB1', 'score': 3.4}, {'connected_gene': 'ARRDC2', 'score': 2.54}, {'connected_gene': 'IFI30', 'score': 1.47}, {'connected_gene': 'PIR41673', 'score': 0.77}]
chr19	GH19I017793	17792632	17792781	0.4	[{'connected_gene': 'JAK3', 'score': 9.24}, {'connected_gene': 'B3GNT3', 'score': 0.77}, {'connected_gene': 'GC19M017755', 'score': 0.31}]
chr19	GH19I017706	17706832	17706981	0.69	[{'connected_gene': 'INSL3', 'score': 12.04}, {'connected_gene': 'B3GNT3', 'score': 11.72}, {'connected_gene': 'UNC13A', 'score': 5.14}, {'connected_gene': 'PIR50741', 'score': 0.77}, {'connected_gene': 'MAP1S', 'score': 0.39}]
chr19	GH19I017821	17821509	17821568	0.5	[{'connected_gene': 'INSL3', 'score': 550.77}, {'connected_gene': 'B3GNT3', 'score': 0.31}]
chr19	GH19I017778	17778212	17779816	1.89	[{'connected_gene': 'FCHO1', 'score': 17.87}, {'connected_gene': 'ENSG00000268030', 'score': 12.6}, {'connected_gene': 'COLGALT1', 'score': 12.4}, {'connected_gene': 'ENSG00000268743', 'score': 10.39}, {'connected_gene': 'FAM129C', 'score': 5.84}, {'connected_gene': 'JAK3', 'score': 2.57}, {'connected_gene': 'MAST3', 'score': 1.4}, {'connected_gene': 'GC19M017755', 'score': 0.39}, {'connected_gene': 'B3GNT3', 'score': 0.37}]
chr19	GH19I017775	17775432	17777276	1.07	[{'connected_gene': 'FCHO1', 'score': 17.1}, {'connected_gene': 'UNC13A', 'score': 12.19}, {'connected_gene': 'RPL18A', 'score': 11.72}, {'connected_gene': 'INSL3', 'score': 11.72}, {'connected_gene': 'SNORA68', 'score': 11.71}, {'connected_gene': 'GC19M017755', 'score': 0.39}, {'connected_gene': 'B3GNT3', 'score': 0.37}]
chr19	GH19I017767	17767406	17768339	0.46	[{'connected_gene': 'FCHO1', 'score': 14.81}, {'connected_gene': 'B3GNT3', 'score': 12.97}, {'connected_gene': 'UNC13A', 'score': 12.39}, {'connected_gene': 'MAP1S', 'score': 12.18}, {'connected_gene': 'INSL3', 'score': 11.71}, {'connected_gene': 'SNORA68', 'score': 11.71}, {'connected_gene': 'RPL18A', 'score': 11.71}, {'connected_gene': 'MVB12A', 'score': 10.3}, {'connected_gene': 'PLVAP', 'score': 10.3}, {'connected_gene': 'GC19M017755', 'score': 0.77}]
chr19	GH19I017770	17770073	17771349	0.38	[{'connected_gene': 'UNC13A', 'score': 12.2}, {'connected_gene': 'RPL18A', 'score': 11.71}, {'connected_gene': 'INSL3', 'score': 11.71}, {'connected_gene': 'SNORA68', 'score': 11.71}, {'connected_gene': 'FCHO1', 'score': 9.21}, {'connected_gene': 'GC19M017755', 'score': 0.44}, {'connected_gene': 'B3GNT3', 'score': 0.34}]
chr19	GH19I017794	17794006	17799806	1.92	[{'connected_gene': 'B3GNT3', 'score': 576.9}, {'connected_gene': 'ENSG00000268030', 'score': 20.18}, {'connected_gene': 'MVB12A', 'score': 13.53}, {'connected_gene': 'ENSG00000268938', 'score': 12.84}, {'connected_gene': 'HAUS8', 'score': 11.36}, {'connected_gene': 'COLGALT1', 'score': 11.34}, {'connected_gene': 'ENSG00000269191', 'score': 11.31}, {'connected_gene': 'IQCN', 'score': 10.43}, {'connected_gene': 'PLVAP', 'score': 10.05}, {'connected_gene': 'KXD1', 'score': 9.98}, {'connected_gene': 'ENSG00000268743', 'score': 9.67}, {'connected_gene': 'INSL3', 'score': 0.34}]
chr19	GH19I017909	17909020	17909961	0.31	[{'connected_gene': 'B3GNT3', 'score': 10.58}, {'connected_gene': 'JUND', 'score': 5.09}, {'connected_gene': 'CCDC124', 'score': 0.34}, {'connected_gene': 'ENSG00000279617', 'score': 0.28}]
chr19	GH19I017827	17827801	17828200	0.51	[{'connected_gene': 'B3GNT3', 'score': 13.08}, {'connected_gene': 'INSL3', 'score': 0.44}, {'connected_gene': 'GC19M017837', 'score': 0.39}, {'connected_gene': 'JAK3', 'score': 0.34}]
chr19	GH19I017806	17806835	17807285	0.46	[{'connected_gene': 'B3GNT3', 'score': 0.39}, {'connected_gene': 'INSL3', 'score': 0.39}]
chr19	GH19I017802	17802216	17802842	0.57	[{'connected_gene': 'B3GNT3', 'score': 0.44}, {'connected_gene': 'INSL3', 'score': 0.37}]
chr19	GH19I017803	17803201	17803891	0.78	[{'connected_gene': 'B3GNT3', 'score': 0.44}, {'connected_gene': 'INSL3', 'score': 0.37}]
chr19	GH19I017788	17788150	17788604	0.2	[{'connected_gene': 'B3GNT3', 'score': 0.44}, {'connected_gene': 'GC19M017755', 'score': 0.34}, {'connected_gene': 'FCHO1', 'score': 0.26}]
chr19	GH19I017784	17784000	17784469	0.79	[{'connected_gene': 'B3GNT3', 'score': 0.39}, {'connected_gene': 'GC19M017755', 'score': 0.37}, {'connected_gene': 'FCHO1', 'score': 0.28}]
chr19	GH19I017780	17780167	17780470	0.59	[{'connected_gene': 'B3GNT3', 'score': 0.39}, {'connected_gene': 'GC19M017755', 'score': 0.39}, {'connected_gene': 'FCHO1', 'score': 0.29}]
chr19	GH19I017785	17784472	17784641	0.96	[{'connected_gene': 'B3GNT3', 'score': 0.39}, {'connected_gene': 'GC19M017755', 'score': 0.37}, {'connected_gene': 'FCHO1', 'score': 0.28}]
chr19	GH19I017792	17792912	17792932	0.4	[{'connected_gene': 'B3GNT3', 'score': 550.77}, {'connected_gene': 'GC19M017755', 'score': 0.31}]
chr19	GH19I017790	17790096	17792441	0.97	[{'connected_gene': 'B3GNT3', 'score': 18.16}, {'connected_gene': 'GC19M017755', 'score': 0.31}]
chr19	GH19I017743	17743992	17744401	0.79	[{'connected_gene': 'GC19P020228', 'score': 550.77}, {'connected_gene': 'MAP1S', 'score': 13.09}, {'connected_gene': 'B3GNT3', 'score': 11.5}, {'connected_gene': 'FCHO1', 'score': 0.77}, {'connected_gene': 'LOC105372299', 'score': 0.44}]
chr19	GH19I017764	17764295	17767381	1.37	[{'connected_gene': 'GC19M017755', 'score': 550.77}, {'connected_gene': 'B3GNT3', 'score': 12.97}, {'connected_gene': 'UNC13A', 'score': 12.39}, {'connected_gene': 'MAP1S', 'score': 12.18}, {'connected_gene': 'INSL3', 'score': 11.54}, {'connected_gene': 'MVB12A', 'score': 10.3}, {'connected_gene': 'PLVAP', 'score': 10.3}, {'connected_gene': 'FCHO1', 'score': 10.24}]