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
ENST00000478197	[[190744334, 190744553], [190943948, 190944296]]	None
ENST00000495546	[[190744352, 190744553], [190944679, 190944749], [191028661, 191028777]]	None
ENST00000490033	[[190954266, 190954334], [190955622, 190955696], [190960244, 190960328], [191028661, 191028786], [191064422, 191064553]]	None
ENST00000450357	[[190954301, 190954334], [190955622, 190955696], [191028661, 191028786], [191064422, 191064676]]	[[191064586, 191064676]]
ENST00000396974	[[191002485, 191002575], [191028661, 191028786], [191064422, 191065205]]	[[191064586, 191064874]]
ENST00000409545	[[191014971, 191015174], [191064422, 191064789]]	[[191064586, 191064789]]
ENST00000409870	[[191045207, 191046135], [191064422, 191064935]]	[[191064586, 191064874]]
ENST00000340623	[[191045588, 191045835], [191064422, 191068210]]	[[191064586, 191064874]]
ENST00000443551	[[191045680, 191045854], [191064422, 191064940]]	[[191064586, 191064874]]
NM_001042521	[[191002485, 191002575], [191028661, 191028786], [191064422, 191068210]]	[[191064586, 191064874]]
NM_001042520	[[191014971, 191015174], [191064422, 191068210]]	[[191064586, 191064874]]
NM_001042519	[[191045588, 191045835], [191064422, 191068210]]	[[191064586, 191064874]]
NM_032321	[[191045680, 191045854], [191064422, 191068210]]	[[191064586, 191064874]]

Promoter

Chrom	Start	End	Description
chr2	190744283	190744292	CAGE_peak_15_at_C2orf88_5end
chr2	191002497	191002512	CAGE_peak_6_at_C2orf88_5end
chr2	191045173	191045266	CAGE_peak_3_at_C2orf88_5end
chr2	191045407	191045422	CAGE_peak_7_at_C2orf88_5end
chr2	191045562	191045606	CAGE_peak_1_at_C2orf88_5end
chr2	191045656	191045708	CAGE_peak_4_at_C2orf88_5end
chr2	191045719	191045724	CAGE_peak_11_at_C2orf88_5end
chr2	191045736	191045777	CAGE_peak_2_at_C2orf88_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I189835	189835582	189837706	1.1	[{'connected_gene': 'ORMDL1', 'score': 32.42}, {'connected_gene': 'C2orf88', 'score': 11.37}, {'connected_gene': 'LOC100421409', 'score': 0.39}, {'connected_gene': 'LOC105373796', 'score': 0.26}, {'connected_gene': 'PMS1', 'score': 0.23}]
chr2	GH02I189932	189932797	189935441	0.63	[{'connected_gene': 'ORMDL1', 'score': 6.22}, {'connected_gene': 'NEMP2', 'score': 4.49}, {'connected_gene': 'RNF11P1', 'score': 0.77}, {'connected_gene': 'GC02M189977', 'score': 0.23}, {'connected_gene': 'C2orf88', 'score': 0.23}]
chr2	GH02I189950	189950849	189953472	0.72	[{'connected_gene': 'C2orf88', 'score': 10.7}, {'connected_gene': 'ORMDL1', 'score': 6.56}, {'connected_gene': 'RNF11P1', 'score': 0.34}, {'connected_gene': 'GC02M189977', 'score': 0.29}]
chr2	GH02I190179	190179662	190185644	2.05	[{'connected_gene': 'C2orf88', 'score': 550.06}, {'connected_gene': 'WDR75', 'score': 18.59}, {'connected_gene': 'PMS1', 'score': 16.14}, {'connected_gene': 'ANKAR', 'score': 14.93}, {'connected_gene': 'ORMDL1', 'score': 14.65}, {'connected_gene': 'NEMP2', 'score': 11.28}, {'connected_gene': 'LOC105373794', 'score': 0.26}, {'connected_gene': 'GC02M190201', 'score': 0.15}]
chr2	GH02I189657	189657386	189659563	0.98	[{'connected_gene': 'C2orf88', 'score': 2.05}, {'connected_gene': 'ASNSD1', 'score': 0.77}, {'connected_gene': 'ENSG00000276828', 'score': 0.29}]
chr2	GH02I190090	190090239	190090391	0.23	[{'connected_gene': 'C2orf88', 'score': 54.0}, {'connected_gene': 'MSTN', 'score': 0.31}, {'connected_gene': 'LOC105373794', 'score': 0.23}]
chr2	GH02I190137	190137728	190137787	0.5	[{'connected_gene': 'C2orf88', 'score': 550.07}, {'connected_gene': 'LOC105373794', 'score': 0.77}, {'connected_gene': 'MSTN', 'score': 0.18}]
chr2	GH02I190235	190235695	190236781	0.2	[{'connected_gene': 'C2orf88', 'score': 18.26}, {'connected_gene': 'GC02M190201', 'score': 0.25}, {'connected_gene': 'LOC105373794', 'score': 0.16}, {'connected_gene': 'HIBCH', 'score': 0.14}]
chr2	GH02I190214	190214400	190217678	0.85	[{'connected_gene': 'WDR75', 'score': 22.85}, {'connected_gene': 'C2orf88', 'score': 18.39}, {'connected_gene': 'HIBCH', 'score': 17.44}, {'connected_gene': 'ANKAR', 'score': 12.09}, {'connected_gene': 'PMS1', 'score': 10.9}, {'connected_gene': 'OSGEPL1', 'score': 10.6}, {'connected_gene': 'NAB1', 'score': 9.87}, {'connected_gene': 'GC02M190201', 'score': 0.2}, {'connected_gene': 'LOC105373794', 'score': 0.19}]
chr2	GH02I189923	189923001	189923400	0.5	[{'connected_gene': 'HNRNPCP2', 'score': 550.77}, {'connected_gene': 'C2orf88', 'score': 10.42}, {'connected_gene': 'ASNSD1', 'score': 7.85}, {'connected_gene': 'RNF11P1', 'score': 0.44}]
chr2	GH02I190099	190099925	190101155	0.31	[{'connected_gene': 'MSTN', 'score': 0.28}, {'connected_gene': 'LOC105373794', 'score': 0.26}, {'connected_gene': 'C2orf88', 'score': 0.07}]
chr2	GH02I190062	190062719	190062778	0.5	[{'connected_gene': 'MSTN', 'score': 550.77}, {'connected_gene': 'GC02M190042', 'score': 550.77}, {'connected_gene': 'LOC105373794', 'score': 0.18}, {'connected_gene': 'C2orf88', 'score': 0.09}]
chr2	GH02I190093	190093800	190094201	0.31	[{'connected_gene': 'MSTN', 'score': 0.29}, {'connected_gene': 'LOC105373794', 'score': 0.25}, {'connected_gene': 'C2orf88', 'score': 0.08}]
chr2	GH02I190333	190333134	190336153	1.18	[{'connected_gene': 'HIBCH', 'score': 50.75}, {'connected_gene': 'C2orf88', 'score': 4.16}, {'connected_gene': 'INPP1', 'score': 0.44}, {'connected_gene': 'GC02M190201', 'score': 0.23}]
chr2	GH02I190136	190136435	190136564	0.76	[{'connected_gene': 'ANKAR', 'score': 13.48}, {'connected_gene': 'WDR75', 'score': 11.94}, {'connected_gene': 'PMS1', 'score': 9.71}, {'connected_gene': 'LOC105373794', 'score': 0.77}, {'connected_gene': 'MSTN', 'score': 0.19}, {'connected_gene': 'C2orf88', 'score': 0.07}]
chr2	GH02I189879	189879495	189879644	0.38	[{'connected_gene': 'LOC105373796', 'score': 550.77}, {'connected_gene': 'C2orf88', 'score': 550.77}, {'connected_gene': 'WDR75', 'score': 18.61}, {'connected_gene': 'PMS1', 'score': 16.24}, {'connected_gene': 'ANKAR', 'score': 14.98}, {'connected_gene': 'ORMDL1', 'score': 14.76}, {'connected_gene': 'NEMP2', 'score': 11.25}, {'connected_gene': 'LOC100287965', 'score': 0.28}]
chr2	GH02I190158	190158674	190159121	0.31	[{'connected_gene': 'LOC105373794', 'score': 0.37}, {'connected_gene': 'GC02M190201', 'score': 0.13}, {'connected_gene': 'C2orf88', 'score': 0.06}]
chr2	GH02I190159	190159575	190159724	0.2	[{'connected_gene': 'LOC105373794', 'score': 0.37}, {'connected_gene': 'GC02M190201', 'score': 0.13}, {'connected_gene': 'C2orf88', 'score': 0.06}]
chr2	GH02I190119	190119202	190119799	0.46	[{'connected_gene': 'LOC105373794', 'score': 0.34}, {'connected_gene': 'MSTN', 'score': 0.22}, {'connected_gene': 'C2orf88', 'score': 0.07}]