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

Promoter

Chrom	Start	End	Description
chr3	125775581	125775592	CAGE_peak_12_at_SLC41A3_5end
chr3	125775603	125775609	CAGE_peak_22_at_SLC41A3_5end
chr3	125775629	125775636	CAGE_peak_21_at_SLC41A3_5end
chr3	125775961	125775982	CAGE_peak_4_at_SLC41A3_5end
chr3	125775994	125776003	CAGE_peak_13_at_SLC41A3_5end
chr3	125802959	125802990	CAGE_peak_1_at_SLC41A3_5end
chr3	125802998	125803003	CAGE_peak_6_at_SLC41A3_5end
chr3	125803105	125803173	CAGE_peak_2_at_SLC41A3_5end
chr3	125820348	125820390	CAGE_peak_5_at_SLC41A3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I125123	125123430	125124802	0.96	[{'connected_gene': 'SLC12A8', 'score': 6.87}, {'connected_gene': 'SLC41A3', 'score': 4.3}, {'connected_gene': 'RNU6-230P', 'score': 0.77}, {'connected_gene': 'MIR5092', 'score': 0.31}]
chr3	GH03I125645	125645859	125648839	0.84	[{'connected_gene': 'ZNF148', 'score': 61.59}, {'connected_gene': 'ZXDC', 'score': 40.86}, {'connected_gene': 'UMPS', 'score': 37.98}, {'connected_gene': 'OR7E29P', 'score': 22.56}, {'connected_gene': 'ENSG00000242001', 'score': 20.9}, {'connected_gene': 'FAM86JP', 'score': 19.62}, {'connected_gene': 'LOC101927056', 'score': 18.57}, {'connected_gene': 'LOC100419878', 'score': 11.48}, {'connected_gene': 'SLC41A3', 'score': 11.13}, {'connected_gene': 'ENSG00000243072', 'score': 0.29}, {'connected_gene': 'PIR57986', 'score': 0.28}]
chr3	GH03I126055	126055934	126059984	1.55	[{'connected_gene': 'SLC41A3', 'score': 582.73}, {'connected_gene': 'ENSG00000248607', 'score': 550.77}, {'connected_gene': 'ALG1L', 'score': 43.29}, {'connected_gene': 'FAM86JP', 'score': 35.68}, {'connected_gene': 'ALDH1L1-AS1', 'score': 10.83}, {'connected_gene': 'OR7E29P', 'score': 4.58}, {'connected_gene': 'LOC105374085', 'score': 0.31}]
chr3	GH03I126082	126082848	126085074	1.92	[{'connected_gene': 'SLC41A3', 'score': 570.55}, {'connected_gene': 'LOC105374085', 'score': 550.77}, {'connected_gene': 'FAM86JP', 'score': 30.39}, {'connected_gene': 'ENSG00000248607', 'score': 0.31}]
chr3	GH03I126102	126102598	126102747	0.2	[{'connected_gene': 'SLC41A3', 'score': 550.77}, {'connected_gene': 'ALDH1L1-AS1', 'score': 550.77}, {'connected_gene': 'ROPN1B', 'score': 7.32}]
chr3	GH03I125972	125972201	125972789	0.65	[{'connected_gene': 'SLC41A3', 'score': 10.87}, {'connected_gene': 'ALDH1L1-AS1', 'score': 10.86}, {'connected_gene': 'FAM86JP', 'score': 6.82}, {'connected_gene': 'ROPN1B', 'score': 0.77}, {'connected_gene': 'PIR42058', 'score': 0.37}]
chr3	GH03I126099	126099933	126101607	1.13	[{'connected_gene': 'SLC41A3', 'score': 562.29}, {'connected_gene': 'FAM86JP', 'score': 33.55}, {'connected_gene': 'ALG1L', 'score': 32.73}, {'connected_gene': 'ROPN1B', 'score': 8.57}, {'connected_gene': 'LOC105374085', 'score': 0.37}]
chr3	GH03I126270	126270201	126270600	0.69	[{'connected_gene': 'SLC41A3', 'score': 4.26}, {'connected_gene': 'ENSG00000250934', 'score': 0.77}, {'connected_gene': 'ENSG00000251448', 'score': 0.34}, {'connected_gene': 'GC03P126153', 'score': 0.13}]
chr3	GH03I126081	126081338	126082828	0.75	[{'connected_gene': 'FAM86JP', 'score': 35.78}, {'connected_gene': 'ALG1L', 'score': 31.38}, {'connected_gene': 'SLC41A3', 'score': 23.73}, {'connected_gene': 'LOC105374085', 'score': 0.77}, {'connected_gene': 'ENSG00000248607', 'score': 0.31}]
chr3	GH03I126017	126017827	126017933	0.22	[{'connected_gene': 'PIR42058', 'score': 0.31}, {'connected_gene': 'ENSG00000248607', 'score': 0.28}, {'connected_gene': 'SLC41A3', 'score': 0.18}]
chr3	GH03I125989	125989801	125991600	1.42	[{'connected_gene': 'PIR42058', 'score': 550.77}, {'connected_gene': 'ALG1L', 'score': 43.66}, {'connected_gene': 'FAM86JP', 'score': 34.15}, {'connected_gene': 'ROPN1B', 'score': 15.45}, {'connected_gene': 'SLC41A3', 'score': 7.84}, {'connected_gene': 'CFAP100', 'score': 2.28}, {'connected_gene': 'ZXDC', 'score': 1.74}, {'connected_gene': 'ENSG00000248607', 'score': 0.2}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000360370	[[125725197, 125726068], [125727574, 125727723], [125731457, 125731592], [125734336, 125734416], [125735573, 125735718], [125741628, 125741775], [125745177, 125745322], [125752449, 125752521], [125769785, 125769893], [125786789, 125787089], [125802935, 125802952]]	[[125725858, 125726068], [125727574, 125727723], [125731457, 125731592], [125734336, 125734416], [125735573, 125735718], [125741628, 125741775], [125745177, 125745322], [125752449, 125752521], [125769785, 125769893], [125786789, 125787062]]
ENST00000346785	[[125725199, 125725407], [125725956, 125726068], [125727574, 125727723], [125731457, 125731592], [125734336, 125734416], [125735573, 125735718], [125741628, 125741775], [125745177, 125745322], [125752449, 125752521], [125786789, 125787089], [125802935, 125803147]]	[[125725249, 125725407], [125725956, 125726068], [125727574, 125727723], [125731457, 125731592], [125734336, 125734416], [125735573, 125735718], [125741628, 125741775], [125745177, 125745322], [125752449, 125752521], [125786789, 125787062]]
ENST00000504118	[[125725200, 125725471], [125725559, 125725729]]	None
ENST00000383598	[[125725200, 125726068], [125727574, 125727723], [125731457, 125731592], [125734336, 125734416], [125735573, 125735718], [125741628, 125741775], [125745177, 125745322], [125752449, 125752521], [125769785, 125769893], [125775200, 125775681]]	[[125725858, 125726068], [125727574, 125727723], [125731457, 125731592], [125734336, 125734416], [125735573, 125735718], [125741628, 125741775], [125745177, 125745322], [125752449, 125752521], [125769785, 125769893], [125775200, 125775395]]
ENST00000506102	[[125725205, 125726068], [125727574, 125727723], [125731457, 125731592], [125734336, 125734416], [125735573, 125735718], [125741628, 125742607]]	None
ENST00000512557	[[125725205, 125725407], [125725956, 125726068], [125727574, 125727723], [125731457, 125731592], [125734336, 125734416], [125735573, 125735718], [125741628, 125744633]]	None
ENST00000315891	[[125725215, 125725407], [125725956, 125726068], [125727574, 125727723], [125731457, 125731592], [125734336, 125734416], [125735573, 125735718], [125741628, 125741775], [125745177, 125745322], [125752449, 125752521], [125769785, 125769893], [125786789, 125787089], [125802935, 125803147]]	[[125725249, 125725407], [125725956, 125726068], [125727574, 125727723], [125731457, 125731592], [125734336, 125734416], [125735573, 125735718], [125741628, 125741775], [125745177, 125745322], [125752449, 125752521], [125769785, 125769893], [125786789, 125787062]]
ENST00000508835	[[125725698, 125726068], [125727574, 125727723], [125731457, 125731592], [125734336, 125734416], [125735573, 125735718], [125741628, 125741775], [125745177, 125745322], [125752449, 125752521], [125769785, 125769893], [125820271, 125820400]]	[[125725858, 125726068], [125727574, 125727723], [125731457, 125731592], [125734336, 125734416], [125735573, 125735718], [125741628, 125741775], [125745177, 125745322], [125752449, 125752521], [125769785, 125769815]]
ENST00000507008	[[125735573, 125735718], [125741628, 125741775], [125745235, 125745322], [125752449, 125752521], [125769785, 125769893], [125820271, 125820404]]	[[125741766, 125741775], [125745235, 125745322], [125752449, 125752521], [125769785, 125769815]]
ENST00000514677	[[125735626, 125735718], [125741628, 125741775], [125745177, 125745322], [125752449, 125752521], [125769740, 125769893], [125786789, 125787089], [125802935, 125803012]]	[[125735626, 125735718], [125741628, 125741775], [125745177, 125745322], [125752449, 125752521], [125769740, 125769893], [125786789, 125787062]]
ENST00000513723	[[125741664, 125741775], [125745177, 125745322], [125752449, 125752521], [125769785, 125769893], [125775200, 125775356], [125786789, 125787089], [125802935, 125802966]]	[[125741664, 125741775], [125745177, 125745322], [125752449, 125752521], [125769785, 125769893], [125775200, 125775356], [125786789, 125787062]]
ENST00000514023	[[125743645, 125743748], [125745177, 125745322], [125752449, 125752521], [125786789, 125787089], [125802935, 125802967]]	None
ENST00000513464	[[125745145, 125745322], [125752449, 125752521], [125769785, 125769893], [125786789, 125787023]]	None
ENST00000512470	[[125745171, 125745322], [125752449, 125752521], [125769785, 125769893], [125786789, 125787089], [125802771, 125802866]]	[[125745171, 125745322], [125752449, 125752521], [125769785, 125769893], [125786789, 125787062]]
ENST00000510651	[[125745226, 125745322], [125769740, 125769893], [125786789, 125787089], [125802935, 125802966]]	[[125745226, 125745322], [125769740, 125769893], [125786789, 125787062]]
ENST00000514333	[[125745254, 125745322], [125752449, 125752521], [125786789, 125787089], [125791995, 125792112], [125802935, 125802966]]	[[125745254, 125745322], [125752449, 125752521], [125786789, 125787062]]
ENST00000507280	[[125752446, 125752521], [125769785, 125769893], [125786789, 125787089], [125797816, 125797877]]	[[125752446, 125752521], [125769785, 125769893], [125786789, 125787062]]
ENST00000514891	[[125752446, 125752521], [125769785, 125769893], [125786789, 125787089], [125802718, 125802765]]	[[125752446, 125752521], [125769785, 125769893], [125786789, 125787062]]
ENST00000504035	[[125752446, 125752521], [125769785, 125769893], [125786789, 125787089], [125802896, 125802939]]	[[125752446, 125752521], [125769785, 125769893], [125786789, 125787062]]
ENST00000509064	[[125752487, 125752521], [125769785, 125769893], [125786789, 125787089], [125820271, 125820398]]	[[125752487, 125752521], [125769785, 125769893], [125786789, 125787062]]
ENST00000505996	[[125769785, 125769893], [125786328, 125786429], [125786789, 125787089], [125802935, 125802967]]	[[125786423, 125786429], [125786789, 125787062]]
ENST00000509452	[[125786805, 125787089], [125789043, 125789259]]	[[125786805, 125787062]]
NM_001008487	[[125725199, 125726068], [125727574, 125727723], [125731457, 125731592], [125734336, 125734416], [125735573, 125735718], [125741628, 125741775], [125745177, 125745322], [125752449, 125752521], [125769785, 125769893], [125775200, 125775618]]	[[125725858, 125726068], [125727574, 125727723], [125731457, 125731592], [125734336, 125734416], [125735573, 125735718], [125741628, 125741775], [125745177, 125745322], [125752449, 125752521], [125769785, 125769893], [125775200, 125775395]]
NM_017836	[[125725199, 125726068], [125727574, 125727723], [125731457, 125731592], [125734336, 125734416], [125735573, 125735718], [125741628, 125741775], [125745177, 125745322], [125752449, 125752521], [125769785, 125769893], [125786789, 125787089], [125802935, 125803134]]	[[125725858, 125726068], [125727574, 125727723], [125731457, 125731592], [125734336, 125734416], [125735573, 125735718], [125741628, 125741775], [125745177, 125745322], [125752449, 125752521], [125769785, 125769893], [125786789, 125787062]]
NM_001008485	[[125725199, 125725407], [125725956, 125726068], [125727574, 125727723], [125731457, 125731592], [125734336, 125734416], [125735573, 125735718], [125741628, 125741775], [125745177, 125745322], [125752449, 125752521], [125769785, 125769893], [125786789, 125787089], [125802935, 125803134]]	[[125725249, 125725407], [125725956, 125726068], [125727574, 125727723], [125731457, 125731592], [125734336, 125734416], [125735573, 125735718], [125741628, 125741775], [125745177, 125745322], [125752449, 125752521], [125769785, 125769893], [125786789, 125787062]]
NM_001008486	[[125725199, 125725407], [125725956, 125726068], [125727574, 125727723], [125731457, 125731592], [125734336, 125734416], [125735573, 125735718], [125741628, 125741775], [125745177, 125745322], [125752449, 125752521], [125786789, 125787089], [125802935, 125803134]]	[[125725249, 125725407], [125725956, 125726068], [125727574, 125727723], [125731457, 125731592], [125734336, 125734416], [125735573, 125735718], [125741628, 125741775], [125745177, 125745322], [125752449, 125752521], [125786789, 125787062]]
NM_001164475	[[125725199, 125726068], [125727574, 125727723], [125731457, 125731592], [125734336, 125734416], [125735573, 125735718], [125741628, 125741775], [125745177, 125745322], [125752449, 125752521], [125769785, 125769893], [125820271, 125820391]]	[[125725858, 125726068], [125727574, 125727723], [125731457, 125731592], [125734336, 125734416], [125735573, 125735718], [125741628, 125741775], [125745177, 125745322], [125752449, 125752521], [125769785, 125769815]]