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
ENST00000400018	[[21727733, 21729289], [21732060, 21732264], [21734040, 21734126], [21735928, 21736014], [21742126, 21742538], [21746477, 21746643], [21746758, 21746820], [21750513, 21750686]]	[[21729241, 21729289], [21732060, 21732264], [21734040, 21734126], [21735928, 21736014], [21742126, 21742538], [21746477, 21746643], [21746758, 21746820], [21750513, 21750616]]
ENST00000298260	[[21727733, 21729289], [21729831, 21729950], [21732060, 21732264], [21734040, 21734126], [21735928, 21736014], [21742126, 21742538], [21746477, 21746643], [21750513, 21750687]]	[[21746638, 21746643], [21750513, 21750616]]
ENST00000314759	[[21727733, 21729289], [21729831, 21729950], [21732060, 21732264], [21734040, 21734126], [21735928, 21736014], [21742126, 21742538], [21746477, 21746643], [21746758, 21746820], [21750513, 21750741]]	[[21729288, 21729289], [21729831, 21729950], [21732060, 21732264], [21734040, 21734126], [21735928, 21736014], [21742126, 21742538], [21746477, 21746643], [21746758, 21746820], [21750513, 21750616]]
ENST00000462482	[[21728835, 21729289], [21729831, 21729950], [21750513, 21750690]]	[[21729903, 21729950], [21750513, 21750616]]
ENST00000465471	[[21735928, 21736014], [21742126, 21742538], [21746477, 21746643], [21746758, 21746820], [21750486, 21750690]]	[[21750505, 21750616]]
ENST00000536239	[[21742360, 21742538], [21746477, 21746643], [21746758, 21746852]]	None
ENST00000475251	[[21746407, 21746643], [21746758, 21746820], [21750513, 21750612]]	None
NM_145061	[[21727733, 21729289], [21729831, 21729950], [21732060, 21732264], [21734040, 21734126], [21735928, 21736014], [21742126, 21742538], [21746477, 21746643], [21746758, 21746820], [21750513, 21750741]]	[[21729288, 21729289], [21729831, 21729950], [21732060, 21732264], [21734040, 21734126], [21735928, 21736014], [21742126, 21742538], [21746477, 21746643], [21746758, 21746820], [21750513, 21750616]]
NM_001166017	[[21727733, 21729289], [21732060, 21732264], [21734040, 21734126], [21735928, 21736014], [21742126, 21742538], [21746477, 21746643], [21746758, 21746820], [21750513, 21750741]]	[[21729241, 21729289], [21732060, 21732264], [21734040, 21734126], [21735928, 21736014], [21742126, 21742538], [21746477, 21746643], [21746758, 21746820], [21750513, 21750616]]

Promoter

Chrom	Start	End	Description
chr13	21750622	21750646	CAGE_peak_2_at_SKA3_5end
chr13	21750659	21750735	CAGE_peak_1_at_SKA3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I021174	21174737	21177946	2.07	[{'connected_gene': 'MRPL57', 'score': 550.77}, {'connected_gene': 'SKA3', 'score': 550.77}, {'connected_gene': 'EEF1AKMT1', 'score': 10.09}, {'connected_gene': 'SAP18', 'score': 7.25}]
chr13	GH13I021235	21235706	21238994	0.2	[{'connected_gene': 'MRPL57', 'score': 11.39}, {'connected_gene': 'SKA3', 'score': 11.39}, {'connected_gene': 'LINC01046', 'score': 0.77}, {'connected_gene': 'ESRRAP2', 'score': 0.34}]
chr13	GH13I021217	21217498	21220590	0.82	[{'connected_gene': 'MRPL57', 'score': 12.29}, {'connected_gene': 'SKA3', 'score': 12.29}, {'connected_gene': 'SAP18', 'score': 4.6}, {'connected_gene': 'ENSG00000271250', 'score': 0.77}, {'connected_gene': 'LINC01046', 'score': 0.37}]
chr13	GH13I021149	21149601	21149800	0.54	[{'connected_gene': 'MRPL57', 'score': 12.28}, {'connected_gene': 'SKA3', 'score': 12.28}, {'connected_gene': 'GC13M021142', 'score': 0.44}]
chr13	GH13I021296	21296977	21299520	1.53	[{'connected_gene': 'MIPEPP3', 'score': 555.53}, {'connected_gene': 'LOC101928764', 'score': 550.77}, {'connected_gene': 'MRPL57', 'score': 10.82}, {'connected_gene': 'SKA3', 'score': 10.82}, {'connected_gene': 'GRK6P1', 'score': 8.87}, {'connected_gene': 'LINC00539', 'score': 6.22}]
chr13	GH13I021123	21123385	21124362	0.38	[{'connected_gene': 'LATS2', 'score': 11.93}, {'connected_gene': 'MRPL57', 'score': 11.74}, {'connected_gene': 'SKA3', 'score': 11.74}, {'connected_gene': 'SAP18', 'score': 4.85}, {'connected_gene': 'GC13M021127', 'score': 0.77}, {'connected_gene': 'ENSG00000275689', 'score': 0.77}, {'connected_gene': 'IPPKP1', 'score': 0.37}]
chr13	GH13I021110	21110882	21111031	0.67	[{'connected_gene': 'LATS2', 'score': 12.45}, {'connected_gene': 'ENSG00000252128', 'score': 12.25}, {'connected_gene': 'SAP18', 'score': 12.25}, {'connected_gene': 'MRPL57', 'score': 11.46}, {'connected_gene': 'SKA3', 'score': 11.46}, {'connected_gene': 'LATS2-AS1', 'score': 11.19}, {'connected_gene': 'IPPKP1', 'score': 0.44}, {'connected_gene': 'GC13M021127', 'score': 0.37}, {'connected_gene': 'ENSG00000275689', 'score': 0.37}]
chr13	GH13I021032	21032602	21035560	0.94	[{'connected_gene': 'LATS2', 'score': 17.38}, {'connected_gene': 'LATS2-AS1', 'score': 12.15}, {'connected_gene': 'ENSG00000252128', 'score': 11.0}, {'connected_gene': 'SAP18', 'score': 11.0}, {'connected_gene': 'MRPL57', 'score': 10.57}, {'connected_gene': 'SKA3', 'score': 10.57}, {'connected_gene': 'CRYL1', 'score': 9.24}, {'connected_gene': 'GC13M021039', 'score': 0.77}, {'connected_gene': 'RNU4-9P', 'score': 0.77}]
chr13	GH13I021180	21180601	21181200	0.89	[{'connected_gene': 'SKA3', 'score': 0.77}, {'connected_gene': 'GC13P021201', 'score': 0.34}]
chr13	GH13I021139	21139367	21141801	2.01	[{'connected_gene': 'SAP18', 'score': 557.82}, {'connected_gene': 'GC13M021142', 'score': 550.77}, {'connected_gene': 'ENSG00000252128', 'score': 550.77}, {'connected_gene': 'MRPL57', 'score': 12.63}, {'connected_gene': 'SKA3', 'score': 12.63}]
chr13	GH13I021105	21105583	21106814	0.51	[{'connected_gene': 'IPPKP1', 'score': 550.77}, {'connected_gene': 'LATS2', 'score': 20.43}, {'connected_gene': 'MRPL57', 'score': 11.65}, {'connected_gene': 'SKA3', 'score': 11.65}, {'connected_gene': 'RNU4-9P', 'score': 11.47}, {'connected_gene': 'LATS2-AS1', 'score': 11.37}, {'connected_gene': 'ENSG00000252128', 'score': 11.31}, {'connected_gene': 'SAP18', 'score': 11.31}, {'connected_gene': 'GC13M021127', 'score': 0.34}, {'connected_gene': 'ENSG00000275689', 'score': 0.34}]
chr13	GH13I021031	21031601	21031800	0.2	[{'connected_gene': 'LATS2-AS1', 'score': 12.15}, {'connected_gene': 'LATS2', 'score': 12.05}, {'connected_gene': 'ENSG00000252128', 'score': 11.0}, {'connected_gene': 'SAP18', 'score': 11.0}, {'connected_gene': 'MRPL57', 'score': 10.57}, {'connected_gene': 'SKA3', 'score': 10.57}, {'connected_gene': 'CRYL1', 'score': 9.24}, {'connected_gene': 'GC13M021039', 'score': 0.44}, {'connected_gene': 'RNU4-9P', 'score': 0.44}]
chr13	GH13I021035	21035601	21035800	0.51	[{'connected_gene': 'LATS2-AS1', 'score': 12.13}, {'connected_gene': 'LATS2', 'score': 12.05}, {'connected_gene': 'ENSG00000252128', 'score': 11.0}, {'connected_gene': 'SAP18', 'score': 11.0}, {'connected_gene': 'MRPL57', 'score': 10.57}, {'connected_gene': 'SKA3', 'score': 10.57}, {'connected_gene': 'CRYL1', 'score': 9.24}, {'connected_gene': 'GC13M021039', 'score': 0.77}, {'connected_gene': 'RNU4-9P', 'score': 0.77}]
chr13	GH13I021142	21142801	21143000	0.43	[{'connected_gene': 'GC13M021142', 'score': 550.77}, {'connected_gene': 'MRPL57', 'score': 12.65}, {'connected_gene': 'SKA3', 'score': 12.65}, {'connected_gene': 'SAP18', 'score': 0.77}]
chr13	GH13I021124	21124702	21125201	0.79	[{'connected_gene': 'GC13M021127', 'score': 550.77}, {'connected_gene': 'ENSG00000275689', 'score': 550.77}, {'connected_gene': 'LATS2', 'score': 11.93}, {'connected_gene': 'MRPL57', 'score': 11.74}, {'connected_gene': 'SKA3', 'score': 11.74}, {'connected_gene': 'IPPKP1', 'score': 0.34}]
chr13	GH13I021038	21038002	21041828	0.97	[{'connected_gene': 'GC13M021039', 'score': 550.77}, {'connected_gene': 'RNU4-9P', 'score': 550.77}, {'connected_gene': 'LATS2', 'score': 21.96}, {'connected_gene': 'LATS2-AS1', 'score': 12.13}, {'connected_gene': 'ENSG00000252128', 'score': 11.0}, {'connected_gene': 'SAP18', 'score': 11.0}, {'connected_gene': 'MRPL57', 'score': 10.58}, {'connected_gene': 'SKA3', 'score': 10.58}, {'connected_gene': 'CRYL1', 'score': 9.24}]