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
ENST00000274030	[[120133790, 120134028], [120135224, 120135377], [120138704, 120138828], [120156444, 120156566], [120160372, 120161058], [120166491, 120166584], [120169902, 120170037], [120177400, 120177514], [120177595, 120177678], [120180974, 120181080], [120181661, 120181808], [120182869, 120183019], [120188474, 120188637], [120189422, 120189575], [120190845, 120190992], [120192450, 120193189], [120194786, 120194863], [120212319, 120212416], [120213492, 120215901]]	[[120160914, 120161058], [120166491, 120166584], [120169902, 120170037], [120177400, 120177514], [120177595, 120177678], [120180974, 120181080], [120181661, 120181808], [120182869, 120183019], [120188474, 120188637], [120189422, 120189575], [120190845, 120190992], [120192450, 120193189], [120194786, 120194863], [120212319, 120212416], [120213492, 120214366]]
ENST00000450251	[[120160370, 120161058], [120166491, 120166584], [120169902, 120170037], [120177400, 120177514], [120177595, 120177678], [120180974, 120181080], [120181661, 120181808], [120182869, 120183019], [120188474, 120188637], [120189422, 120189575], [120190845, 120190992], [120192450, 120193189], [120194786, 120194863], [120212319, 120212416], [120213492, 120216672]]	[[120160914, 120161058], [120166491, 120166584], [120169902, 120170037], [120177400, 120177514], [120177595, 120177678], [120180974, 120181080], [120181661, 120181808], [120182869, 120183019], [120188474, 120188637], [120189422, 120189575], [120190845, 120190992], [120192450, 120193189], [120194786, 120194863], [120212319, 120212416], [120213492, 120214366]]
ENST00000509769	[[120160794, 120161058], [120166491, 120166584], [120169902, 120170037], [120177400, 120177514], [120177595, 120177678], [120180974, 120181080], [120181661, 120181808], [120182869, 120183019], [120187454, 120187488], [120188474, 120188637], [120189422, 120189575], [120190845, 120190992], [120192450, 120193189], [120194786, 120194863], [120212319, 120212416], [120213492, 120215793]]	[[120160914, 120161058], [120166491, 120166584], [120169902, 120170037], [120177400, 120177514], [120177595, 120177678], [120180974, 120181080], [120181661, 120181808], [120182869, 120183019], [120187454, 120187466]]
ENST00000510852	[[120188535, 120188637], [120189422, 120189575], [120190845, 120190992], [120192450, 120194485]]	None
ENST00000514665	[[120133741, 120134028], [120138704, 120142650]]	None
ENST00000507597	[[120133895, 120134028], [120138704, 120138828], [120156444, 120156566], [120160372, 120160496]]	None
ENST00000514305	[[120133897, 120134028], [120135224, 120135377], [120138704, 120138828], [120141270, 120141366]]	None
ENST00000510737	[[120134333, 120134373], [120135224, 120135377], [120138704, 120138828], [120156444, 120156566], [120160372, 120160467]]	None
ENST00000507906	[[120182947, 120183019], [120188474, 120188590], [120189422, 120189575], [120190845, 120190992], [120192450, 120192508]]	[[120182947, 120183019], [120188474, 120188590], [120189422, 120189429]]
NM_019050	[[120133781, 120134028], [120135224, 120135377], [120138704, 120138828], [120160372, 120161058], [120166491, 120166584], [120169902, 120170037], [120177400, 120177514], [120177595, 120177678], [120180974, 120181080], [120181661, 120181808], [120182869, 120183019], [120188474, 120188637], [120189422, 120189575], [120190845, 120190992], [120192450, 120193189], [120194786, 120194863], [120212319, 120212416], [120213492, 120216673]]	[[120160914, 120161058], [120166491, 120166584], [120169902, 120170037], [120177400, 120177514], [120177595, 120177678], [120180974, 120181080], [120181661, 120181808], [120182869, 120183019], [120188474, 120188637], [120189422, 120189575], [120190845, 120190992], [120192450, 120193189], [120194786, 120194863], [120212319, 120212416], [120213492, 120214366]]

Promoter

Chrom	Start	End	Description
chr4	120133777	120133790	CAGE_peak_4_at_USP53_5end
chr4	120133791	120133802	CAGE_peak_3_at_USP53_5end
chr4	120133818	120133831	CAGE_peak_2_at_USP53_5end
chr4	120133857	120133881	CAGE_peak_1_at_USP53_5end
chr4	120133968	120133991	CAGE_peak_5_at_USP53_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I119653	119653905	119660261	0.72	[{'connected_gene': 'LOC645513', 'score': 42.48}, {'connected_gene': 'USP53', 'score': 15.35}, {'connected_gene': 'PDE5A', 'score': 11.94}, {'connected_gene': 'ENSG00000260091', 'score': 5.66}, {'connected_gene': 'KLHL2P1', 'score': 5.53}, {'connected_gene': 'LOC105377397', 'score': 0.29}]
chr4	GH04I119237	119237739	119238473	0.77	[{'connected_gene': 'LOC645513', 'score': 42.02}, {'connected_gene': 'LOC101929762', 'score': 12.6}, {'connected_gene': 'USP53', 'score': 12.6}, {'connected_gene': 'MYOZ2', 'score': 10.39}, {'connected_gene': 'PIR34278', 'score': 0.21}, {'connected_gene': 'GC04P119302', 'score': 0.21}]
chr4	GH04I118904	118904513	118906034	0.96	[{'connected_gene': 'METTL14', 'score': 4.65}, {'connected_gene': 'USP53', 'score': 4.44}, {'connected_gene': 'LOC105377393', 'score': 0.31}, {'connected_gene': 'GC04M118904', 'score': 0.31}, {'connected_gene': 'SYNPO2', 'score': 0.23}]
chr4	GH04I119102	119102053	119104806	1.54	[{'connected_gene': 'METTL14', 'score': 17.26}, {'connected_gene': 'CICP16', 'score': 15.46}, {'connected_gene': 'USP53', 'score': 15.35}, {'connected_gene': 'MYOZ2', 'score': 11.41}, {'connected_gene': 'SNHG8', 'score': 10.89}, {'connected_gene': 'FABP2', 'score': 6.89}, {'connected_gene': 'LOC102723967', 'score': 0.77}, {'connected_gene': 'GC04P119115', 'score': 0.39}]
chr4	GH04I119130	119130440	119133075	0.4	[{'connected_gene': 'USP53', 'score': 9.91}, {'connected_gene': 'KLHL2P1', 'score': 6.32}, {'connected_gene': 'LOC105377395', 'score': 0.77}, {'connected_gene': 'MYOZ2', 'score': 0.77}, {'connected_gene': 'GC04P119115', 'score': 0.37}, {'connected_gene': 'LOC102723967', 'score': 0.29}]
chr4	GH04I119105	119105910	119107086	0.86	[{'connected_gene': 'USP53', 'score': 15.46}, {'connected_gene': 'FABP2', 'score': 4.63}, {'connected_gene': 'GC04P119115', 'score': 0.44}, {'connected_gene': 'LOC102723967', 'score': 0.44}]
chr4	GH04I119112	119112821	119114134	1	[{'connected_gene': 'USP53', 'score': 11.44}, {'connected_gene': 'FABP2', 'score': 8.19}, {'connected_gene': 'GC04P119115', 'score': 0.77}, {'connected_gene': 'LOC102723967', 'score': 0.39}]
chr4	GH04I119123	119123041	119124451	0.46	[{'connected_gene': 'USP53', 'score': 20.54}, {'connected_gene': 'FABP2', 'score': 12.39}, {'connected_gene': 'LOC101929762', 'score': 11.35}, {'connected_gene': 'LOC105377395', 'score': 0.77}, {'connected_gene': 'GC04P119115', 'score': 0.44}, {'connected_gene': 'LOC102723967', 'score': 0.34}]
chr4	GH04I119053	119053751	119055085	0.2	[{'connected_gene': 'USP53', 'score': 4.44}, {'connected_gene': 'ENSG00000280551', 'score': 0.39}, {'connected_gene': 'GC04M119070', 'score': 0.37}, {'connected_gene': 'SYNPO2', 'score': 0.08}]
chr4	GH04I119051	119051616	119053707	0.2	[{'connected_gene': 'USP53', 'score': 4.56}, {'connected_gene': 'ENSG00000280551', 'score': 0.39}, {'connected_gene': 'GC04M119070', 'score': 0.37}, {'connected_gene': 'SYNPO2', 'score': 0.08}]
chr4	GH04I119080	119080780	119082056	0.87	[{'connected_gene': 'USP53', 'score': 6.07}, {'connected_gene': 'GC04M119070', 'score': 0.39}, {'connected_gene': 'LOC102723967', 'score': 0.37}]
chr4	GH04I119206	119206952	119215071	2.8	[{'connected_gene': 'USP53', 'score': 574.9}, {'connected_gene': 'LOC101929762', 'score': 550.77}, {'connected_gene': 'LOC645513', 'score': 30.9}, {'connected_gene': 'FABP2', 'score': 21.14}, {'connected_gene': 'METTL14', 'score': 10.29}, {'connected_gene': 'LOC729218', 'score': 10.11}, {'connected_gene': 'KLHL2P1', 'score': 6.1}, {'connected_gene': 'MRPL42P1', 'score': 0.37}]
chr4	GH04I119217	119217761	119217820	0.61	[{'connected_gene': 'USP53', 'score': 550.44}, {'connected_gene': 'LOC101929762', 'score': 0.44}, {'connected_gene': 'PIR34278', 'score': 0.18}, {'connected_gene': 'GC04P119302', 'score': 0.18}]
chr4	GH04I119284	119284151	119284539	0.23	[{'connected_gene': 'USP53', 'score': 22.62}, {'connected_gene': 'PIR34278', 'score': 0.37}, {'connected_gene': 'GC04P119302', 'score': 0.37}, {'connected_gene': 'LOC101929762', 'score': 0.19}]
chr4	GH04I119096	119096282	119096952	0.2	[{'connected_gene': 'MYOZ2', 'score': 10.52}, {'connected_gene': 'USP53', 'score': 9.45}, {'connected_gene': 'FABP2', 'score': 5.8}, {'connected_gene': 'LOC102723967', 'score': 0.77}, {'connected_gene': 'GC04M119070', 'score': 0.31}]
chr4	GH04I119227	119227746	119227895	0.38	[{'connected_gene': 'MYOZ2', 'score': 9.58}, {'connected_gene': 'LOC101929762', 'score': 0.37}, {'connected_gene': 'USP53', 'score': 0.37}, {'connected_gene': 'PIR34278', 'score': 0.19}, {'connected_gene': 'GC04P119302', 'score': 0.19}]
chr4	GH04I120064	120064136	120068593	2.04	[{'connected_gene': 'MAD2L1', 'score': 555.02}, {'connected_gene': 'ENSG00000250938', 'score': 550.77}, {'connected_gene': 'USP53', 'score': 4.59}, {'connected_gene': 'ENSG00000253825', 'score': 0.31}]
chr4	GH04I119285	119284801	119285600	0.6	[{'connected_gene': 'FABP2', 'score': 27.4}, {'connected_gene': 'LOC645513', 'score': 19.43}, {'connected_gene': 'PIR34278', 'score': 0.37}, {'connected_gene': 'GC04P119302', 'score': 0.37}, {'connected_gene': 'LOC101929762', 'score': 0.19}, {'connected_gene': 'USP53', 'score': 0.19}]
chr4	GH04I119623	119623210	119632962	2.13	[{'connected_gene': 'LOC105377396', 'score': 550.77}, {'connected_gene': 'GC04M119628', 'score': 550.77}, {'connected_gene': 'GC04P119639', 'score': 550.77}, {'connected_gene': 'PDE5A', 'score': 550.77}, {'connected_gene': 'LOC645513', 'score': 35.45}, {'connected_gene': 'USP53', 'score': 16.66}, {'connected_gene': 'FABP2', 'score': 6.5}, {'connected_gene': 'KLHL2P1', 'score': 5.87}, {'connected_gene': 'ENSG00000260091', 'score': 5.61}]
chr4	GH04I119099	119099142	119099492	0.56	[{'connected_gene': 'LOC102723967', 'score': 550.77}, {'connected_gene': 'USP53', 'score': 14.85}, {'connected_gene': 'GC04M119070', 'score': 0.31}]
chr4	GH04I119100	119099666	119099795	0.38	[{'connected_gene': 'LOC102723967', 'score': 550.77}, {'connected_gene': 'USP53', 'score': 15.18}, {'connected_gene': 'GC04M119070', 'score': 0.31}]
chr4	GH04I119044	119044502	119045597	0.2	[{'connected_gene': 'LOC101929762', 'score': 11.46}, {'connected_gene': 'USP53', 'score': 11.46}, {'connected_gene': 'MYOZ2', 'score': 10.63}, {'connected_gene': 'LOC645513', 'score': 4.06}, {'connected_gene': 'ENSG00000280551', 'score': 0.77}, {'connected_gene': 'GC04M119070', 'score': 0.31}, {'connected_gene': 'SYNPO2', 'score': 0.08}]
chr4	GH04I119047	119047166	119047315	0.4	[{'connected_gene': 'LOC101929762', 'score': 11.46}, {'connected_gene': 'USP53', 'score': 11.46}, {'connected_gene': 'ENSG00000280551', 'score': 0.44}, {'connected_gene': 'GC04M119070', 'score': 0.34}, {'connected_gene': 'SYNPO2', 'score': 0.08}]
chr4	GH04I119046	119046400	119046601	0.6	[{'connected_gene': 'LOC101929762', 'score': 11.46}, {'connected_gene': 'USP53', 'score': 11.46}, {'connected_gene': 'ENSG00000280551', 'score': 0.77}, {'connected_gene': 'GC04M119070', 'score': 0.34}, {'connected_gene': 'SYNPO2', 'score': 0.08}]
chr4	GH04I119255	119255286	119255455	0.38	[{'connected_gene': 'LOC101929762', 'score': 0.26}, {'connected_gene': 'USP53', 'score': 0.26}, {'connected_gene': 'PIR34278', 'score': 0.25}, {'connected_gene': 'GC04P119302', 'score': 0.25}]
chr4	GH04I119569	119569803	119571213	0.2	[{'connected_gene': 'ENSG00000221245', 'score': 550.77}, {'connected_gene': 'GC04P119579', 'score': 550.77}, {'connected_gene': 'USP53', 'score': 16.55}, {'connected_gene': 'LOC645513', 'score': 8.94}, {'connected_gene': 'KLHL2P1', 'score': 5.88}, {'connected_gene': 'GC04P119639', 'score': 0.22}, {'connected_gene': 'PDE5A', 'score': 0.22}]
chr4	GH04I119068	119068151	119069175	0.68	[{'connected_gene': 'GC04M119070', 'score': 550.77}, {'connected_gene': 'USP53', 'score': 9.49}, {'connected_gene': 'SYNPO2', 'score': 4.32}, {'connected_gene': 'ENSG00000280551', 'score': 0.31}]
chr4	GH04I119070	119070486	119070635	0.56	[{'connected_gene': 'GC04M119070', 'score': 550.77}, {'connected_gene': 'USP53', 'score': 4.52}, {'connected_gene': 'LOC102723967', 'score': 0.31}]
chr4	GH04I119298	119298111	119301779	2.05	[{'connected_gene': 'PIR34278', 'score': 550.77}, {'connected_gene': 'GC04P119302', 'score': 550.77}, {'connected_gene': 'C4orf3', 'score': 550.77}, {'connected_gene': 'LOC645513', 'score': 50.21}, {'connected_gene': 'FABP2', 'score': 28.8}, {'connected_gene': 'USP53', 'score': 21.49}, {'connected_gene': 'KLHL2P1', 'score': 6.72}, {'connected_gene': 'LOC101929762', 'score': 0.17}]
chr4	GH04I119286	119286400	119286800	0.52	[{'connected_gene': 'PIR34278', 'score': 0.39}, {'connected_gene': 'GC04P119302', 'score': 0.39}, {'connected_gene': 'LOC101929762', 'score': 0.19}, {'connected_gene': 'USP53', 'score': 0.19}]