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
ENST00000233892	[[198380294, 198380408], [198388347, 198388410], [198400253, 198400354], [198404834, 198404877], [198405074, 198405161], [198413059, 198413139], [198414998, 198415110], [198415238, 198418423]]	[[198388383, 198388410], [198400253, 198400354], [198404834, 198404877], [198405074, 198405161], [198413059, 198413139], [198414998, 198415110], [198415238, 198415370]]
ENST00000409916	[[198380304, 198380408], [198400253, 198400354], [198404834, 198404877], [198405074, 198405161], [198413059, 198413139], [198414998, 198415110], [198415238, 198415540]]	[[198405104, 198405161], [198413059, 198413139], [198414998, 198415110], [198415238, 198415370]]
ENST00000323303	[[198380555, 198380870], [198388347, 198388410], [198400253, 198400354], [198404834, 198404877], [198405074, 198405161], [198413059, 198413139], [198414998, 198415110], [198415238, 198418423]]	[[198380810, 198380870], [198388347, 198388410], [198400253, 198400354], [198404834, 198404877], [198405074, 198405161], [198413059, 198413139], [198414998, 198415110], [198415238, 198415370]]
ENST00000448447	[[198380770, 198380870], [198400253, 198400354], [198404834, 198404877], [198405074, 198405161], [198413059, 198413139], [198414998, 198415110], [198415238, 198415736]]	[[198380810, 198380870], [198400253, 198400354], [198404834, 198404877], [198405074, 198405161], [198413059, 198413139], [198414998, 198415110], [198415238, 198415370]]
ENST00000497443	[[198380797, 198380870], [198404834, 198404877], [198405074, 198405161], [198414998, 198415110], [198415238, 198415488]]	None
ENST00000417097	[[198380797, 198380870], [198388347, 198388410], [198404834, 198404877], [198405074, 198405161], [198413059, 198413139], [198414998, 198415110], [198415238, 198415978]]	[[198380810, 198380870], [198388347, 198388410], [198404834, 198404849]]
ENST00000409355	[[198380807, 198380870], [198400253, 198400329], [198404834, 198404877], [198405074, 198405161], [198413059, 198413139], [198414998, 198415110], [198415238, 198415907]]	[[198380810, 198380870], [198400253, 198400329], [198404834, 198404854]]
ENST00000409360	[[198380883, 198381079], [198388347, 198388410], [198400253, 198400354], [198404834, 198404877], [198405074, 198405161], [198413059, 198413139], [198414998, 198415110], [198415238, 198416003]]	[[198388383, 198388410], [198400253, 198400354], [198404834, 198404877], [198405074, 198405161], [198413059, 198413139], [198414998, 198415110], [198415238, 198415370]]
NM_199482	[[198380294, 198380408], [198388347, 198388410], [198400253, 198400354], [198404834, 198404877], [198405074, 198405161], [198413059, 198413139], [198414998, 198415110], [198415238, 198418423]]	[[198388383, 198388410], [198400253, 198400354], [198404834, 198404877], [198405074, 198405161], [198413059, 198413139], [198414998, 198415110], [198415238, 198415370]]
NM_001100819	[[198380766, 198380870], [198400253, 198400354], [198404834, 198404877], [198405074, 198405161], [198413059, 198413139], [198414998, 198415110], [198415238, 198418423]]	[[198380810, 198380870], [198400253, 198400354], [198404834, 198404877], [198405074, 198405161], [198413059, 198413139], [198414998, 198415110], [198415238, 198415370]]
NM_015387	[[198380766, 198380870], [198388347, 198388410], [198400253, 198400354], [198404834, 198404877], [198405074, 198405161], [198413059, 198413139], [198414998, 198415110], [198415238, 198418423]]	[[198380810, 198380870], [198388347, 198388410], [198400253, 198400354], [198404834, 198404877], [198405074, 198405161], [198413059, 198413139], [198414998, 198415110], [198415238, 198415370]]
NM_001204094	[[198381021, 198381079], [198388347, 198388410], [198400253, 198400354], [198404834, 198404877], [198405074, 198405161], [198413059, 198413139], [198414998, 198415110], [198415238, 198418423]]	[[198388383, 198388410], [198400253, 198400354], [198404834, 198404877], [198405074, 198405161], [198413059, 198413139], [198414998, 198415110], [198415238, 198415370]]

Promoter

Chrom	Start	End	Description
chr2	198380272	198380287	CAGE_peak_2_at_MOB4_5end
chr2	198380289	198380301	CAGE_peak_3_at_MOB4_5end
chr2	198380763	198380813	CAGE_peak_1_at_MOB4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I197282	197279209	197279547	0.42	[{'connected_gene': 'ANKRD44', 'score': 8.81}, {'connected_gene': 'MOB4', 'score': 1.85}, {'connected_gene': 'SF3B1', 'score': 1.36}, {'connected_gene': 'PGAP1', 'score': 1.18}, {'connected_gene': 'GC02P197265', 'score': 0.37}, {'connected_gene': 'ANKRD44-IT1', 'score': 0.34}]
chr2	GH02I197141	197141002	197142853	1	[{'connected_gene': 'ANKRD44', 'score': 23.47}, {'connected_gene': 'SF3B1', 'score': 11.52}, {'connected_gene': 'LOC101927596', 'score': 11.46}, {'connected_gene': 'RNU6-1029P', 'score': 10.11}, {'connected_gene': 'ENSG00000202434', 'score': 9.75}, {'connected_gene': 'MOB4', 'score': 2.15}, {'connected_gene': 'GC02P197128', 'score': 0.39}]
chr2	GH02I197292	197292325	197298975	1.41	[{'connected_gene': 'ANKRD44', 'score': 32.8}, {'connected_gene': 'LOC101927596', 'score': 12.24}, {'connected_gene': 'COQ10B', 'score': 6.44}, {'connected_gene': 'SF3B1', 'score': 4.15}, {'connected_gene': 'MOB4', 'score': 2.32}, {'connected_gene': 'ANKRD44-IT1', 'score': 0.44}, {'connected_gene': 'GC02P197265', 'score': 0.29}]
chr2	GH02I197203	197203445	197219125	1.59	[{'connected_gene': 'ANKRD44', 'score': 27.59}, {'connected_gene': 'ANKRD44-IT1', 'score': 12.43}, {'connected_gene': 'LOC105373824', 'score': 12.42}, {'connected_gene': 'MOB4', 'score': 8.93}, {'connected_gene': 'COQ10B', 'score': 8.87}, {'connected_gene': 'SF3B1', 'score': 7.09}, {'connected_gene': 'MARS2', 'score': 1.36}, {'connected_gene': 'HSPD1', 'score': 1.27}, {'connected_gene': 'LOC105373826', 'score': 0.44}, {'connected_gene': 'LOC101927596', 'score': 0.39}]
chr2	GH02I197847	197847350	197849402	0.67	[{'connected_gene': 'PLCL1', 'score': 10.75}, {'connected_gene': 'BOLL', 'score': 10.28}, {'connected_gene': 'SF3B1', 'score': 9.36}, {'connected_gene': 'RFTN2', 'score': 5.72}, {'connected_gene': 'MOB4', 'score': 1.72}, {'connected_gene': 'GC02P197830', 'score': 0.37}, {'connected_gene': 'GC02M197883', 'score': 0.28}]
chr2	GH02I197513	197513994	197517648	2.09	[{'connected_gene': 'MOB4', 'score': 556.91}, {'connected_gene': 'HSPD1', 'score': 550.77}, {'connected_gene': 'PLCL1', 'score': 5.7}, {'connected_gene': 'HSPE1-MOB4', 'score': 0.37}]
chr2	GH02I197180	197180875	197184557	0.49	[{'connected_gene': 'LOC105373824', 'score': 12.57}, {'connected_gene': 'ANKRD44', 'score': 12.57}, {'connected_gene': 'ANKRD44-IT1', 'score': 12.57}, {'connected_gene': 'ENSG00000202434', 'score': 10.05}, {'connected_gene': 'SF3B1', 'score': 10.04}, {'connected_gene': 'MOB4', 'score': 5.22}, {'connected_gene': 'LOC101927596', 'score': 0.37}, {'connected_gene': 'GC02P197128', 'score': 0.23}]
chr2	GH02I197194	197194079	197202480	1.19	[{'connected_gene': 'LOC101927596', 'score': 550.77}, {'connected_gene': 'ANKRD44-IT1', 'score': 12.47}, {'connected_gene': 'LOC105373824', 'score': 12.46}, {'connected_gene': 'ANKRD44', 'score': 12.46}, {'connected_gene': 'SF3B1', 'score': 9.36}, {'connected_gene': 'RNU6-1029P', 'score': 9.36}, {'connected_gene': 'ENSG00000202434', 'score': 9.35}, {'connected_gene': 'MOB4', 'score': 6.59}, {'connected_gene': 'CCDC150', 'score': 4.42}, {'connected_gene': 'LOC105373826', 'score': 0.37}]