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
ENST00000486488	[[54557170, 54557346], [54561953, 54562161], [54570856, 54571010], [54586095, 54586211], [54587339, 54587487]]	[[54557302, 54557346], [54561953, 54562161], [54570856, 54571010], [54586095, 54586211], [54587339, 54587487]]
ENST00000405749	[[54558038, 54558138], [54561953, 54561987], [54570856, 54571010], [54608982, 54609122], [54610183, 54610331]]	[[54558112, 54558138], [54561953, 54561987], [54570856, 54571010], [54608982, 54609110]]
ENST00000398634	[[54558070, 54558138], [54561953, 54562161], [54570856, 54571010], [54586095, 54586211], [54587339, 54588714]]	[[54558112, 54558138], [54561953, 54562161], [54570856, 54571010], [54586095, 54586211], [54587339, 54587699]]
ENST00000317627	[[54558070, 54558138], [54570856, 54571010], [54586095, 54586211], [54587339, 54588714]]	[[54558112, 54558138], [54570856, 54571010]]
ENST00000447328	[[54558091, 54558138], [54561953, 54561987], [54570856, 54571010], [54586095, 54586211], [54587339, 54587644]]	[[54558112, 54558138], [54561953, 54561987], [54570856, 54571010], [54586095, 54586211], [54587339, 54587644]]
ENST00000414747	[[54558123, 54558138], [54561953, 54561987], [54570856, 54571010], [54587339, 54587408], [54608982, 54609122], [54610183, 54610331]]	[[54558123, 54558138], [54561953, 54561987], [54570856, 54571010], [54587339, 54587383]]
ENST00000491538	[[54558123, 54558138], [54587339, 54587408], [54587980, 54588079], [54608982, 54609122], [54610580, 54610879]]	None
NM_001100396	[[54558070, 54558138], [54561953, 54562161], [54570856, 54571010], [54586095, 54586211], [54587339, 54588714]]	[[54558112, 54558138], [54561953, 54562161], [54570856, 54571010], [54586095, 54586211], [54587339, 54587699]]

Promoter

Chrom	Start	End	Description
chr2	54558004	54558084	CAGE_peak_1_at_C2orf73_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I054486	54486621	54495411	0.71	[{'connected_gene': 'SPTBN1', 'score': 26.27}, {'connected_gene': 'EML6', 'score': 21.93}, {'connected_gene': 'LOC105374667', 'score': 14.11}, {'connected_gene': 'TSPYL6', 'score': 10.84}, {'connected_gene': 'RNU7-172P', 'score': 10.54}, {'connected_gene': 'ACYP2', 'score': 10.3}, {'connected_gene': 'C2orf73', 'score': 10.16}, {'connected_gene': 'RNU7-81P', 'score': 10.13}, {'connected_gene': 'PRORSD1P', 'score': 5.06}, {'connected_gene': 'GC02M054483', 'score': 0.44}, {'connected_gene': 'GC02P054516', 'score': 0.31}]
chr2	GH02I054335	54335708	54337597	0.38	[{'connected_gene': 'SPTBN1', 'score': 11.3}, {'connected_gene': 'TSPYL6', 'score': 10.53}, {'connected_gene': 'ACYP2', 'score': 10.08}, {'connected_gene': 'RNU7-172P', 'score': 9.85}, {'connected_gene': 'C2orf73', 'score': 8.12}, {'connected_gene': 'GC02P054340', 'score': 0.77}]
chr2	GH02I054475	54475986	54476677	0.2	[{'connected_gene': 'SPTBN1', 'score': 19.34}, {'connected_gene': 'C2orf73', 'score': 10.22}, {'connected_gene': 'ACYP2', 'score': 10.18}, {'connected_gene': 'RNU7-172P', 'score': 9.59}, {'connected_gene': 'LOC105374667', 'score': 9.21}, {'connected_gene': 'GC02P054478', 'score': 0.77}]
chr2	GH02I054505	54505251	54505923	0.2	[{'connected_gene': 'SPTBN1', 'score': 11.29}, {'connected_gene': 'C2orf73', 'score': 11.16}, {'connected_gene': 'ACYP2', 'score': 11.06}, {'connected_gene': 'GC02P054516', 'score': 0.39}, {'connected_gene': 'GC02M054483', 'score': 0.37}]
chr2	GH02I054504	54504844	54504993	0.4	[{'connected_gene': 'SPTBN1', 'score': 11.29}, {'connected_gene': 'C2orf73', 'score': 11.16}, {'connected_gene': 'ACYP2', 'score': 10.77}, {'connected_gene': 'GC02P054516', 'score': 0.39}, {'connected_gene': 'GC02M054483', 'score': 0.37}]
chr2	GH02I054465	54465758	54466360	0.2	[{'connected_gene': 'SPTBN1', 'score': 11.99}, {'connected_gene': 'C2orf73', 'score': 11.26}, {'connected_gene': 'TSPYL6', 'score': 10.0}, {'connected_gene': 'GC02P054478', 'score': 0.39}]
chr2	GH02I054401	54401174	54403566	1.06	[{'connected_gene': 'SPTBN1', 'score': 16.89}, {'connected_gene': 'C2orf73', 'score': 11.21}, {'connected_gene': 'RNU7-172P', 'score': 9.73}, {'connected_gene': 'GC02M054422', 'score': 0.34}, {'connected_gene': 'GC02M054359', 'score': 0.26}]
chr2	GH02I054409	54409344	54410726	0.72	[{'connected_gene': 'SPTBN1', 'score': 12.38}, {'connected_gene': 'C2orf73', 'score': 10.94}, {'connected_gene': 'GC02M054422', 'score': 0.37}, {'connected_gene': 'GC02M054359', 'score': 0.25}]
chr2	GH02I054384	54384745	54384893	0.69	[{'connected_gene': 'SPTBN1', 'score': 11.12}, {'connected_gene': 'C2orf73', 'score': 11.03}, {'connected_gene': 'GC02M054359', 'score': 0.34}, {'connected_gene': 'GC02M054422', 'score': 0.26}]
chr2	GH02I054509	54509620	54511877	0.2	[{'connected_gene': 'EML6', 'score': 14.78}, {'connected_gene': 'SPTBN1', 'score': 11.09}, {'connected_gene': 'ACYP2', 'score': 11.01}, {'connected_gene': 'TSPYL6', 'score': 10.35}, {'connected_gene': 'C2orf73', 'score': 10.18}, {'connected_gene': 'GC02P054516', 'score': 0.44}, {'connected_gene': 'GC02M054483', 'score': 0.34}]
chr2	GH02I054496	54496953	54501468	1.17	[{'connected_gene': 'EML6', 'score': 20.43}, {'connected_gene': 'SPTBN1', 'score': 11.81}, {'connected_gene': 'C2orf73', 'score': 11.17}, {'connected_gene': 'ACYP2', 'score': 10.77}, {'connected_gene': 'RNU7-81P', 'score': 10.13}, {'connected_gene': 'LOC105374667', 'score': 10.01}, {'connected_gene': 'PRORSD1P', 'score': 5.22}, {'connected_gene': 'GC02M054483', 'score': 0.39}, {'connected_gene': 'GC02P054516', 'score': 0.37}]
chr2	GH02I054290	54290101	54291228	0.2	[{'connected_gene': 'TSPYL6', 'score': 21.15}, {'connected_gene': 'ACYP2', 'score': 15.55}, {'connected_gene': 'C2orf73', 'score': 11.17}, {'connected_gene': 'ENSG00000272156', 'score': 5.69}, {'connected_gene': 'GC02P054297', 'score': 0.44}, {'connected_gene': 'GC02P054285', 'score': 0.44}]
chr2	GH02I054207	54207211	54209342	1.12	[{'connected_gene': 'TSPYL6', 'score': 19.82}, {'connected_gene': 'SPTBN1', 'score': 10.95}, {'connected_gene': 'RNU7-172P', 'score': 10.91}, {'connected_gene': 'C2orf73', 'score': 10.2}, {'connected_gene': 'ACYP2', 'score': 6.77}, {'connected_gene': 'GC02M054187', 'score': 0.44}, {'connected_gene': 'GC02M054119', 'score': 0.31}]
chr2	GH02I054212	54212084	54213217	0.63	[{'connected_gene': 'TSPYL6', 'score': 20.04}, {'connected_gene': 'RNU7-172P', 'score': 10.63}, {'connected_gene': 'ACYP2', 'score': 10.62}, {'connected_gene': 'C2orf73', 'score': 10.4}, {'connected_gene': 'GC02M054187', 'score': 0.44}, {'connected_gene': 'GC02M054119', 'score': 0.29}]
chr2	GH02I054238	54238892	54241191	0.49	[{'connected_gene': 'TSPYL6', 'score': 44.1}, {'connected_gene': 'RNU7-172P', 'score': 10.68}, {'connected_gene': 'C2orf73', 'score': 10.32}, {'connected_gene': 'ACYP2', 'score': 7.24}, {'connected_gene': 'GC02P054224', 'score': 0.37}]
chr2	GH02I054476	54475400	54475601	0.51	[{'connected_gene': 'C2orf73', 'score': 10.22}, {'connected_gene': 'ACYP2', 'score': 10.19}, {'connected_gene': 'RNU7-172P', 'score': 9.59}, {'connected_gene': 'LOC105374667', 'score': 9.21}, {'connected_gene': 'GC02P054478', 'score': 0.77}, {'connected_gene': 'SPTBN1', 'score': 0.37}]
chr2	GH02I054274	54274331	54275600	0.78	[{'connected_gene': 'C2orf73', 'score': 15.48}, {'connected_gene': 'ACYP2', 'score': 14.77}, {'connected_gene': 'LOC105374610', 'score': 0.77}, {'connected_gene': 'TSPYL6', 'score': 0.37}]
chr2	GH02I054329	54329426	54331753	2	[{'connected_gene': 'C2orf73', 'score': 560.72}, {'connected_gene': 'ACYP2', 'score': 5.64}, {'connected_gene': 'GC02P054340', 'score': 0.39}]
chr2	GH02I054463	54463401	54463600	0.4	[{'connected_gene': 'C2orf73', 'score': 11.26}, {'connected_gene': 'SPTBN1', 'score': 10.91}, {'connected_gene': 'TSPYL6', 'score': 10.0}, {'connected_gene': 'EML6', 'score': 8.08}, {'connected_gene': 'GC02P054478', 'score': 0.37}]
chr2	GH02I054460	54460040	54461652	0.69	[{'connected_gene': 'C2orf73', 'score': 11.26}, {'connected_gene': 'SPTBN1', 'score': 10.04}, {'connected_gene': 'TSPYL6', 'score': 10.0}, {'connected_gene': 'EML6', 'score': 9.38}, {'connected_gene': 'GC02P054478', 'score': 0.37}]
chr2	GH02I054370	54370299	54372594	0.78	[{'connected_gene': 'C2orf73', 'score': 20.03}, {'connected_gene': 'RTN4', 'score': 4.73}, {'connected_gene': 'GC02M054359', 'score': 0.39}, {'connected_gene': 'GC02M054422', 'score': 0.23}]
chr2	GH02I054464	54464801	54465400	0.4	[{'connected_gene': 'C2orf73', 'score': 11.26}, {'connected_gene': 'TSPYL6', 'score': 10.0}, {'connected_gene': 'SPTBN1', 'score': 0.44}, {'connected_gene': 'GC02P054478', 'score': 0.39}]
chr2	GH02I054367	54367430	54368551	0.2	[{'connected_gene': 'C2orf73', 'score': 15.65}, {'connected_gene': 'GC02M054359', 'score': 0.44}, {'connected_gene': 'GC02M054422', 'score': 0.22}]
chr2	GH02I054241	54241204	54241307	0.2	[{'connected_gene': 'RNU7-172P', 'score': 10.68}, {'connected_gene': 'C2orf73', 'score': 10.32}, {'connected_gene': 'TSPYL6', 'score': 0.37}, {'connected_gene': 'GC02P054224', 'score': 0.37}, {'connected_gene': 'ACYP2', 'score': 0.06}]
chr2	GH02I054750	54750427	54750574	0.33	[{'connected_gene': 'LOC105374667', 'score': 550.77}, {'connected_gene': 'TSPYL6', 'score': 14.12}, {'connected_gene': 'EML6', 'score': 10.75}, {'connected_gene': 'C2orf73', 'score': 10.43}, {'connected_gene': 'GC02M054734', 'score': 0.39}]
chr2	GH02I054434	54434192	54435412	0.51	[{'connected_gene': 'LOC102724072', 'score': 550.77}, {'connected_gene': 'C2orf73', 'score': 10.35}, {'connected_gene': 'TSPYL6', 'score': 10.1}, {'connected_gene': 'RNU7-172P', 'score': 10.07}, {'connected_gene': 'SPTBN1', 'score': 0.34}]
chr2	GH02I054435	54435557	54436242	0.2	[{'connected_gene': 'LOC102724072', 'score': 550.77}, {'connected_gene': 'C2orf73', 'score': 10.35}, {'connected_gene': 'TSPYL6', 'score': 10.1}, {'connected_gene': 'RNU7-172P', 'score': 10.07}, {'connected_gene': 'SPTBN1', 'score': 0.34}]
chr2	GH02I054478	54478941	54479717	0.63	[{'connected_gene': 'GC02P054478', 'score': 550.77}, {'connected_gene': 'SPTBN1', 'score': 11.79}, {'connected_gene': 'EML6', 'score': 10.44}, {'connected_gene': 'C2orf73', 'score': 10.4}, {'connected_gene': 'ACYP2', 'score': 10.21}, {'connected_gene': 'GC02M054483', 'score': 0.44}]
chr2	GH02I054479	54478001	54478200	0.51	[{'connected_gene': 'GC02P054478', 'score': 550.77}, {'connected_gene': 'SPTBN1', 'score': 11.79}, {'connected_gene': 'C2orf73', 'score': 10.4}, {'connected_gene': 'ACYP2', 'score': 10.21}]
chr2	GH02I054477	54477601	54477800	0.87	[{'connected_gene': 'GC02P054478', 'score': 550.77}, {'connected_gene': 'CLHC1', 'score': 12.5}, {'connected_gene': 'SPTBN1', 'score': 11.79}, {'connected_gene': 'PRORSD1P', 'score': 10.65}, {'connected_gene': 'ENSG00000203327', 'score': 10.45}, {'connected_gene': 'C2orf73', 'score': 10.4}, {'connected_gene': 'ACYP2', 'score': 10.21}, {'connected_gene': 'RPS27A', 'score': 9.93}]
chr2	GH02I054359	54359698	54361002	1.11	[{'connected_gene': 'GC02M054359', 'score': 550.77}, {'connected_gene': 'C2orf73', 'score': 29.05}, {'connected_gene': 'SPTBN1', 'score': 10.75}, {'connected_gene': 'GC02P054340', 'score': 0.37}]