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
ENST00000244520	[[34725182, 34725328], [34725688, 34725731], [34730371, 34730480], [34735684, 34735774], [34738067, 34738172], [34741222, 34741571]]	[[34725320, 34725328], [34725688, 34725731], [34730371, 34730480], [34735684, 34735774], [34738067, 34738172], [34741222, 34741347]]
ENST00000374018	[[34725301, 34725328], [34730371, 34730480], [34735684, 34735774], [34738067, 34738172], [34741222, 34741491]]	[[34730443, 34730480], [34735684, 34735774], [34738067, 34738172], [34741222, 34741347]]
ENST00000374017	[[34725330, 34725731], [34730371, 34730480], [34735684, 34735774], [34738067, 34738172], [34741222, 34741571]]	[[34725617, 34725731], [34730371, 34730480], [34735684, 34735774], [34738067, 34738172], [34741222, 34741347]]
ENST00000474635	[[34725688, 34725731], [34730371, 34730480], [34735684, 34735774], [34738067, 34738172], [34740707, 34740784], [34741222, 34741309]]	None
NR_029472	[[34724870, 34725328], [34730371, 34730480], [34735684, 34735774], [34738067, 34738172], [34741222, 34741634]]	None
NM_003093	[[34724870, 34725328], [34725688, 34725731], [34730371, 34730480], [34735684, 34735774], [34738067, 34738172], [34741222, 34741634]]	[[34725320, 34725328], [34725688, 34725731], [34730371, 34730480], [34735684, 34735774], [34738067, 34738172], [34741222, 34741347]]

Promoter

Chrom	Start	End	Description
chr6	34724873	34724894	CAGE_peak_4_at_SNRPC_5end
chr6	34725181	34725195	CAGE_peak_2_at_SNRPC_5end
chr6	34725220	34725236	CAGE_peak_3_at_SNRPC_5end
chr6	34725263	34725302	CAGE_peak_1_at_SNRPC_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I034951	34951797	34956157	1.15	[{'connected_gene': 'TAF11', 'score': 18.53}, {'connected_gene': 'UHRF1BP1', 'score': 17.79}, {'connected_gene': 'ANKS1A', 'score': 11.71}, {'connected_gene': 'SCUBE3', 'score': 10.46}, {'connected_gene': 'SNRPC', 'score': 4.88}, {'connected_gene': 'PIR53548', 'score': 0.31}, {'connected_gene': 'GC06P041898', 'score': 0.31}]
chr6	GH06I034723	34723290	34723919	0.92	[{'connected_gene': 'SNRPC', 'score': 12.32}, {'connected_gene': 'C6orf106', 'score': 11.28}, {'connected_gene': 'ENSG00000220643', 'score': 11.24}, {'connected_gene': 'LOC105375029', 'score': 0.77}, {'connected_gene': 'RPS10P13', 'score': 0.34}, {'connected_gene': 'GC06P042412', 'score': 0.31}]
chr6	GH06I034756	34756400	34758584	2.11	[{'connected_gene': 'SNRPC', 'score': 550.77}, {'connected_gene': 'UHRF1BP1', 'score': 54.97}, {'connected_gene': 'LEMD2', 'score': 43.38}, {'connected_gene': 'TAF11', 'score': 24.22}, {'connected_gene': 'FKBP5', 'score': 18.5}, {'connected_gene': 'RPS10', 'score': 11.87}, {'connected_gene': 'TEAD3', 'score': 10.45}, {'connected_gene': 'ZNF76', 'score': 10.36}, {'connected_gene': 'RPL10A', 'score': 10.27}, {'connected_gene': 'FANCE', 'score': 10.08}]
chr6	GH06I035055	35055380	35057144	0.31	[{'connected_gene': 'SNRPC', 'score': 5.18}, {'connected_gene': 'PIR51275', 'score': 0.39}, {'connected_gene': 'GC06M038607', 'score': 0.39}, {'connected_gene': 'ANKS1A', 'score': 0.1}]
chr6	GH06I034744	34744440	34747458	0.94	[{'connected_gene': 'RPS10P13', 'score': 550.77}, {'connected_gene': 'UHRF1BP1', 'score': 56.79}, {'connected_gene': 'C6orf106', 'score': 12.05}, {'connected_gene': 'ENSG00000220643', 'score': 12.03}, {'connected_gene': 'SNRPC', 'score': 0.39}]
chr6	GH06I034836	34835877	34836537	0.46	[{'connected_gene': 'UHRF1BP1', 'score': 55.87}, {'connected_gene': 'SNRPC', 'score': 11.09}, {'connected_gene': 'C6orf106', 'score': 10.8}, {'connected_gene': 'ENSG00000220643', 'score': 10.8}, {'connected_gene': 'ANKS1A', 'score': 10.73}, {'connected_gene': 'TAF11', 'score': 10.73}, {'connected_gene': 'TCP11', 'score': 9.28}, {'connected_gene': 'ENSG00000206717', 'score': 0.39}, {'connected_gene': 'PIR40218', 'score': 0.29}]
chr6	GH06I034835	34835001	34835641	0.98	[{'connected_gene': 'UHRF1BP1', 'score': 22.34}, {'connected_gene': 'SNRPC', 'score': 11.09}, {'connected_gene': 'C6orf106', 'score': 10.8}, {'connected_gene': 'ENSG00000220643', 'score': 10.8}, {'connected_gene': 'ANKS1A', 'score': 10.71}, {'connected_gene': 'TAF11', 'score': 10.71}, {'connected_gene': 'TCP11', 'score': 9.28}, {'connected_gene': 'ENSG00000206717', 'score': 0.39}, {'connected_gene': 'PIR40218', 'score': 0.29}]
chr6	GH06I034722	34722636	34723234	0.69	[{'connected_gene': 'UHRF1BP1', 'score': 48.64}, {'connected_gene': 'SNRPC', 'score': 12.32}, {'connected_gene': 'C6orf106', 'score': 11.28}, {'connected_gene': 'ENSG00000220643', 'score': 11.24}, {'connected_gene': 'LOC105375029', 'score': 0.77}, {'connected_gene': 'RPS10P13', 'score': 0.34}, {'connected_gene': 'GC06P042412', 'score': 0.31}]
chr6	GH06I035001	35001396	35002530	0.2	[{'connected_gene': 'UHRF1BP1', 'score': 18.47}, {'connected_gene': 'SNRPC', 'score': 6.08}, {'connected_gene': 'GC06P041881', 'score': 0.37}, {'connected_gene': 'PIR39158', 'score': 0.37}, {'connected_gene': 'PIR43947', 'score': 0.37}, {'connected_gene': 'ANKS1A', 'score': 0.14}]
chr6	GH06I035399	35399563	35403784	1.3	[{'connected_gene': 'UHRF1BP1', 'score': 6.88}, {'connected_gene': 'SCUBE3', 'score': 6.66}, {'connected_gene': 'TEAD3', 'score': 6.64}, {'connected_gene': 'PPARD', 'score': 4.74}, {'connected_gene': 'SNRPC', 'score': 4.53}, {'connected_gene': 'RPS10', 'score': 4.25}, {'connected_gene': 'GC06P042385', 'score': 0.31}]
chr6	GH06I035366	35366872	35372201	1.74	[{'connected_gene': 'PPARD', 'score': 31.66}, {'connected_gene': 'DEF6', 'score': 8.17}, {'connected_gene': 'UHRF1BP1', 'score': 8.02}, {'connected_gene': 'SNRPC', 'score': 4.83}, {'connected_gene': 'ARMC12', 'score': 4.8}, {'connected_gene': 'C6orf106', 'score': 4.22}, {'connected_gene': 'ZNF76', 'score': 1.95}, {'connected_gene': 'RPL10A', 'score': 1.25}, {'connected_gene': 'GC06P042385', 'score': 0.22}]
chr6	GH06I035076	35076398	35077967	0.58	[{'connected_gene': 'PIR48879', 'score': 550.77}, {'connected_gene': 'PIR60750', 'score': 550.77}, {'connected_gene': 'SNRPC', 'score': 6.93}, {'connected_gene': 'UHRF1BP1', 'score': 5.22}, {'connected_gene': 'C6orf106', 'score': 4.98}, {'connected_gene': 'TCP11', 'score': 4.85}, {'connected_gene': 'ENSG00000273870', 'score': 0.44}, {'connected_gene': 'ANKS1A', 'score': 0.09}]
chr6	GH06I034694	34694552	34697960	2.29	[{'connected_gene': 'GC06P042412', 'score': 550.77}, {'connected_gene': 'C6orf106', 'score': 550.77}, {'connected_gene': 'LOC101929243', 'score': 550.77}, {'connected_gene': 'TAF11', 'score': 61.76}, {'connected_gene': 'LEMD2', 'score': 50.19}, {'connected_gene': 'UHRF1BP1', 'score': 40.18}, {'connected_gene': 'RPL10A', 'score': 14.59}, {'connected_gene': 'ZNF76', 'score': 13.6}, {'connected_gene': 'RPS10', 'score': 13.3}, {'connected_gene': 'ENSG00000219023', 'score': 12.7}, {'connected_gene': 'SNRPC', 'score': 11.32}, {'connected_gene': 'RPL35P2', 'score': 10.54}, {'connected_gene': 'FANCE', 'score': 10.07}, {'connected_gene': 'ENSG00000272374', 'score': 10.05}, {'connected_gene': 'LOC105375028', 'score': 0.44}]