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
ENST00000290536	[[74785009, 74786001], [74786824, 74786836], [74787277, 74787418], [74789343, 74789550], [74802564, 74802706], [74803582, 74803745], [74808800, 74808974], [74834181, 74834350], [74842090, 74842276], [74867162, 74867454], [74875099, 74875164]]	[[74785842, 74786001], [74786824, 74786836], [74787277, 74787418], [74789343, 74789550], [74802564, 74802706], [74803582, 74803745], [74808800, 74808974], [74834181, 74834350], [74842090, 74842276], [74867162, 74867402]]
ENST00000409585	[[74785018, 74786001], [74787277, 74787418], [74789343, 74789550], [74802564, 74802706], [74803582, 74803745], [74808800, 74808974], [74834181, 74834350], [74842090, 74842276], [74867162, 74867454]]	[[74785842, 74786001], [74787277, 74787418], [74789343, 74789550], [74802564, 74802706], [74803582, 74803745], [74808800, 74808974], [74834181, 74834350], [74842090, 74842276], [74867162, 74867402]]
ENST00000536235	[[74785464, 74786001], [74787277, 74787418], [74789343, 74789550], [74802564, 74802706], [74803582, 74803745], [74808800, 74808974], [74834181, 74834350], [74842090, 74842276], [74867162, 74867454], [74875391, 74875457]]	[[74785842, 74786001], [74787277, 74787418], [74789343, 74789550], [74802564, 74802706], [74803582, 74803745], [74808800, 74808974], [74834181, 74834350], [74842090, 74842276], [74867162, 74867402]]
ENST00000358434	[[74785842, 74786001], [74786824, 74786836], [74787277, 74787418], [74802564, 74802706], [74803582, 74803745], [74808800, 74808974], [74834181, 74834350], [74842090, 74842276], [74867162, 74867454], [74875099, 74875164]]	[[74785842, 74786001], [74786824, 74786836], [74787277, 74787418], [74802564, 74802706], [74803582, 74803668]]
ENST00000438226	[[74802620, 74802706], [74803582, 74803745], [74808800, 74808974], [74867162, 74867454], [74875391, 74875465]]	[[74808932, 74808974], [74867162, 74867402]]
ENST00000422394	[[74808921, 74808974], [74842090, 74842276], [74867162, 74867454], [74875391, 74875436]]	[[74808932, 74808974], [74842090, 74842276], [74867162, 74867402]]
ENST00000478437	[[74834280, 74834350], [74842090, 74842276], [74842623, 74842951]]	None
ENST00000421985	[[74842090, 74842276], [74867162, 74867454], [74875391, 74875457]]	[[74842090, 74842276], [74867162, 74867402]]
ENST00000464686	[[74785018, 74786001], [74787277, 74787418], [74789343, 74789550], [74802564, 74802706], [74803582, 74803745], [74804011, 74804066]]	None
ENST00000485997	[[74785776, 74786001], [74802564, 74802616]]	None
NM_138804	[[74785009, 74786001], [74786824, 74786836], [74787277, 74787418], [74789343, 74789550], [74802564, 74802706], [74803582, 74803745], [74808800, 74808974], [74834181, 74834350], [74842090, 74842276], [74867162, 74867454], [74875099, 74875164]]	[[74785842, 74786001], [74786824, 74786836], [74787277, 74787418], [74789343, 74789550], [74802564, 74802706], [74803582, 74803745], [74808800, 74808974], [74834181, 74834350], [74842090, 74842276], [74867162, 74867402]]
NM_001321739	[[74785009, 74786001], [74786824, 74786836], [74787277, 74787418], [74789343, 74789550], [74802564, 74802706], [74803582, 74803745], [74808800, 74808974], [74834181, 74834350], [74842090, 74842276], [74867162, 74867454], [74875391, 74875465]]	[[74785842, 74786001], [74786824, 74786836], [74787277, 74787418], [74789343, 74789550], [74802564, 74802706], [74803582, 74803745], [74808800, 74808974], [74834181, 74834350], [74842090, 74842276], [74867162, 74867402]]
NM_001281296	[[74785009, 74786001], [74787277, 74787418], [74789343, 74789550], [74802564, 74802706], [74803582, 74803745], [74808800, 74808974], [74834181, 74834350], [74842090, 74842276], [74867162, 74867454], [74875391, 74875465]]	[[74785842, 74786001], [74787277, 74787418], [74789343, 74789550], [74802564, 74802706], [74803582, 74803745], [74808800, 74808974], [74834181, 74834350], [74842090, 74842276], [74867162, 74867402]]
NM_001281295	[[74802386, 74802706], [74803582, 74803745], [74808800, 74808974], [74834181, 74834350], [74842090, 74842276], [74867162, 74867454], [74875391, 74875465]]	[[74802540, 74802706], [74803582, 74803745], [74808800, 74808974], [74834181, 74834350], [74842090, 74842276], [74867162, 74867402]]

Promoter

Chrom	Start	End	Description
chr2	74804044	74804088	CAGE_peak_2_at_C2orf65_5end
chr2	74875432	74875466	CAGE_peak_1_at_C2orf65_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I074566	74566300	74569355	1.26	[{'connected_gene': 'LBX2', 'score': 13.64}, {'connected_gene': 'WBP1', 'score': 12.66}, {'connected_gene': 'HTRA2', 'score': 11.56}, {'connected_gene': 'AUP1', 'score': 11.56}, {'connected_gene': 'TLX2', 'score': 10.94}, {'connected_gene': 'PCGF1', 'score': 10.93}, {'connected_gene': 'MRPL53', 'score': 10.49}, {'connected_gene': 'MOGS', 'score': 10.48}, {'connected_gene': 'DQX1', 'score': 10.43}, {'connected_gene': 'RTKN', 'score': 10.0}, {'connected_gene': 'M1AP', 'score': 9.24}, {'connected_gene': 'SEMA4F', 'score': 9.24}, {'connected_gene': 'DOK1', 'score': 3.64}, {'connected_gene': 'LOXL3', 'score': 1.87}, {'connected_gene': 'GC02M074608', 'score': 0.28}, {'connected_gene': 'GC02M074606', 'score': 0.28}]
chr2	GH02I074587	74587600	74588001	0.98	[{'connected_gene': 'LBX2', 'score': 22.32}, {'connected_gene': 'DOK1', 'score': 15.79}, {'connected_gene': 'MRPL53', 'score': 11.92}, {'connected_gene': 'HTRA2', 'score': 11.41}, {'connected_gene': 'AUP1', 'score': 11.41}, {'connected_gene': 'PCGF1', 'score': 11.4}, {'connected_gene': 'DQX1', 'score': 11.16}, {'connected_gene': 'LOXL3', 'score': 11.13}, {'connected_gene': 'CCDC142', 'score': 11.11}, {'connected_gene': 'TTC31', 'score': 11.11}, {'connected_gene': 'TLX2', 'score': 10.98}, {'connected_gene': 'M1AP', 'score': 10.01}, {'connected_gene': 'SEMA4F', 'score': 10.0}, {'connected_gene': 'GC02M074608', 'score': 0.37}, {'connected_gene': 'GC02M074606', 'score': 0.37}]
chr2	GH02I074583	74583142	74584763	1.32	[{'connected_gene': 'LOXL3', 'score': 12.01}, {'connected_gene': 'DOK1', 'score': 11.78}, {'connected_gene': 'HTRA2', 'score': 11.63}, {'connected_gene': 'AUP1', 'score': 11.63}, {'connected_gene': 'TLX2', 'score': 11.34}, {'connected_gene': 'PCGF1', 'score': 11.33}, {'connected_gene': 'CCDC142', 'score': 11.26}, {'connected_gene': 'TTC31', 'score': 11.26}, {'connected_gene': 'DQX1', 'score': 11.12}, {'connected_gene': 'LBX2', 'score': 10.95}, {'connected_gene': 'M1AP', 'score': 10.33}, {'connected_gene': 'SEMA4F', 'score': 10.31}, {'connected_gene': 'INO80B', 'score': 4.57}, {'connected_gene': 'GC02M074608', 'score': 0.34}, {'connected_gene': 'GC02M074606', 'score': 0.34}]
chr2	GH02I074563	74563883	74564881	0.66	[{'connected_gene': 'LOXL3', 'score': 0.44}, {'connected_gene': 'GC02M074608', 'score': 0.26}, {'connected_gene': 'GC02M074606', 'score': 0.26}, {'connected_gene': 'M1AP', 'score': 0.18}]
chr2	GH02I074570	74570655	74574999	1.52	[{'connected_gene': 'AUP1', 'score': 26.44}, {'connected_gene': 'MOGS', 'score': 24.76}, {'connected_gene': 'PCGF1', 'score': 24.2}, {'connected_gene': 'HTRA2', 'score': 22.96}, {'connected_gene': 'DOK1', 'score': 17.38}, {'connected_gene': 'TTC31', 'score': 15.05}, {'connected_gene': 'CCDC142', 'score': 14.17}, {'connected_gene': 'DUSP11', 'score': 13.27}, {'connected_gene': 'LBX2-AS1', 'score': 12.57}, {'connected_gene': 'MOB1A', 'score': 11.97}, {'connected_gene': 'ENSG00000273245', 'score': 11.13}, {'connected_gene': 'LBX2', 'score': 11.09}, {'connected_gene': 'TLX2', 'score': 10.93}, {'connected_gene': 'DQX1', 'score': 10.86}, {'connected_gene': 'MRPL53', 'score': 10.56}, {'connected_gene': 'WBP1', 'score': 10.54}, {'connected_gene': 'RTKN', 'score': 9.99}, {'connected_gene': 'M1AP', 'score': 9.25}, {'connected_gene': 'SEMA4F', 'score': 9.24}, {'connected_gene': 'LOXL3', 'score': 0.37}, {'connected_gene': 'GC02M074608', 'score': 0.29}, {'connected_gene': 'GC02M074606', 'score': 0.29}]
chr2	GH02I074528	74528127	74532523	2.1	[{'connected_gene': 'AUP1', 'score': 563.12}, {'connected_gene': 'HTRA2', 'score': 560.69}, {'connected_gene': 'LBX2', 'score': 31.68}, {'connected_gene': 'TTC31', 'score': 23.73}, {'connected_gene': 'CCDC142', 'score': 22.36}, {'connected_gene': 'PCGF1', 'score': 21.89}, {'connected_gene': 'DUSP11', 'score': 13.28}, {'connected_gene': 'MOB1A', 'score': 13.22}, {'connected_gene': 'MOGS', 'score': 12.88}, {'connected_gene': 'MTHFD2', 'score': 12.01}, {'connected_gene': 'ENSG00000273245', 'score': 11.67}, {'connected_gene': 'LOXL3', 'score': 11.21}, {'connected_gene': 'WBP1', 'score': 10.79}, {'connected_gene': 'DGUOK-AS1', 'score': 10.02}, {'connected_gene': 'M1AP', 'score': 9.35}, {'connected_gene': 'SEMA4F', 'score': 9.35}, {'connected_gene': 'DOK1', 'score': 0.37}]
chr2	GH02I074872	74872194	74876661	1.37	[{'connected_gene': 'HK2', 'score': 49.8}, {'connected_gene': 'M1AP', 'score': 10.53}, {'connected_gene': 'SEMA4F', 'score': 10.53}, {'connected_gene': 'MTHFD2', 'score': 5.48}, {'connected_gene': 'LBX2', 'score': 1.38}, {'connected_gene': 'GC02P074877', 'score': 0.77}, {'connected_gene': 'GC02M074860', 'score': 0.44}]
chr2	GH02I074767	74767816	74768363	0.69	[{'connected_gene': 'HK2', 'score': 11.97}, {'connected_gene': 'SEMA4F', 'score': 10.37}, {'connected_gene': 'M1AP', 'score': 10.36}, {'connected_gene': 'LOC102724482', 'score': 0.39}, {'connected_gene': 'RPS28P5', 'score': 0.39}]
chr2	GH02I074842	74842608	74852599	1.66	[{'connected_gene': 'HK2', 'score': 40.64}, {'connected_gene': 'SEMA4F', 'score': 9.94}, {'connected_gene': 'M1AP', 'score': 9.94}, {'connected_gene': 'ENSG00000236209', 'score': 4.82}, {'connected_gene': 'LINC01293', 'score': 4.52}, {'connected_gene': 'LBX2', 'score': 1.19}, {'connected_gene': 'GC02M074813', 'score': 0.39}, {'connected_gene': 'GC02M074860', 'score': 0.34}]
chr2	GH02I074735	74735201	74736075	0.72	[{'connected_gene': 'HK2', 'score': 11.31}, {'connected_gene': 'SEMA4F', 'score': 10.75}, {'connected_gene': 'M1AP', 'score': 10.74}, {'connected_gene': 'RPS28P5', 'score': 0.37}, {'connected_gene': 'LOC102724497', 'score': 0.34}]
chr2	GH02I074569	74569535	74570537	0.43	[{'connected_gene': 'HTRA2', 'score': 22.46}, {'connected_gene': 'MOB1A', 'score': 15.02}, {'connected_gene': 'DUSP11', 'score': 14.86}, {'connected_gene': 'DOK1', 'score': 11.89}, {'connected_gene': 'AUP1', 'score': 11.54}, {'connected_gene': 'TTC31', 'score': 11.51}, {'connected_gene': 'ENSG00000273245', 'score': 11.42}, {'connected_gene': 'TLX2', 'score': 10.93}, {'connected_gene': 'PCGF1', 'score': 10.92}, {'connected_gene': 'ACTG2', 'score': 10.91}, {'connected_gene': 'MRPL53', 'score': 10.49}, {'connected_gene': 'MOGS', 'score': 10.48}, {'connected_gene': 'LBX2', 'score': 10.47}, {'connected_gene': 'WBP1', 'score': 10.47}, {'connected_gene': 'DQX1', 'score': 10.43}, {'connected_gene': 'ENSG00000270571', 'score': 10.39}, {'connected_gene': 'RTKN', 'score': 10.0}, {'connected_gene': 'M1AP', 'score': 9.25}, {'connected_gene': 'SEMA4F', 'score': 9.24}, {'connected_gene': 'LOXL3', 'score': 0.39}, {'connected_gene': 'GC02M074608', 'score': 0.28}, {'connected_gene': 'GC02M074606', 'score': 0.28}]
chr2	GH02I074585	74585401	74585800	0.8	[{'connected_gene': 'DOK1', 'score': 16.79}, {'connected_gene': 'LOXL3', 'score': 12.01}, {'connected_gene': 'HTRA2', 'score': 11.62}, {'connected_gene': 'AUP1', 'score': 11.62}, {'connected_gene': 'TLX2', 'score': 11.34}, {'connected_gene': 'PCGF1', 'score': 11.33}, {'connected_gene': 'CCDC142', 'score': 11.26}, {'connected_gene': 'TTC31', 'score': 11.26}, {'connected_gene': 'DQX1', 'score': 11.12}, {'connected_gene': 'LBX2', 'score': 10.95}, {'connected_gene': 'M1AP', 'score': 10.33}, {'connected_gene': 'SEMA4F', 'score': 10.32}, {'connected_gene': 'GC02M074608', 'score': 0.37}, {'connected_gene': 'GC02M074606', 'score': 0.37}]
chr2	GH02I074575	74575378	74578799	1.4	[{'connected_gene': 'DOK1', 'score': 18.07}, {'connected_gene': 'LOXL3', 'score': 12.36}, {'connected_gene': 'HTRA2', 'score': 11.69}, {'connected_gene': 'AUP1', 'score': 11.69}, {'connected_gene': 'DQX1', 'score': 11.07}, {'connected_gene': 'TLX2', 'score': 11.03}, {'connected_gene': 'PCGF1', 'score': 11.02}, {'connected_gene': 'LBX2', 'score': 10.94}, {'connected_gene': 'CCDC142', 'score': 10.9}, {'connected_gene': 'TTC31', 'score': 10.9}, {'connected_gene': 'RTKN', 'score': 10.38}, {'connected_gene': 'C2orf81', 'score': 9.78}, {'connected_gene': 'WDR54', 'score': 9.78}, {'connected_gene': 'ENSG00000159239', 'score': 9.78}, {'connected_gene': 'MOB1A', 'score': 1.26}, {'connected_gene': 'GC02M074608', 'score': 0.31}, {'connected_gene': 'GC02M074606', 'score': 0.31}, {'connected_gene': 'M1AP', 'score': 0.19}]
chr2	GH02I074550	74550915	74556528	2.21	[{'connected_gene': 'DOK1', 'score': 555.78}, {'connected_gene': 'LOXL3', 'score': 550.77}, {'connected_gene': 'LBX2-AS1', 'score': 12.09}, {'connected_gene': 'HTRA2', 'score': 11.69}, {'connected_gene': 'AUP1', 'score': 11.69}, {'connected_gene': 'TLX2', 'score': 11.07}, {'connected_gene': 'PCGF1', 'score': 11.06}, {'connected_gene': 'DQX1', 'score': 10.7}, {'connected_gene': 'MRPL53', 'score': 10.67}, {'connected_gene': 'WBP1', 'score': 10.57}, {'connected_gene': 'MOGS', 'score': 10.41}, {'connected_gene': 'M1AP', 'score': 5.85}, {'connected_gene': 'INO80B', 'score': 4.5}]
chr2	GH02I074548	74548306	74550165	2.12	[{'connected_gene': 'DOK1', 'score': 550.77}, {'connected_gene': 'M1AP', 'score': 4.54}, {'connected_gene': 'INO80B', 'score': 4.51}, {'connected_gene': 'LOXL3', 'score': 0.44}]
chr2	GH02I074593	74593567	74595256	0.57	[{'connected_gene': 'LBX2-AS1', 'score': 12.5}, {'connected_gene': 'GC02M074608', 'score': 0.39}, {'connected_gene': 'GC02M074606', 'score': 0.39}, {'connected_gene': 'LOXL3', 'score': 0.28}, {'connected_gene': 'M1AP', 'score': 0.23}]
chr2	GH02I074892	74892564	74895136	0.69	[{'connected_gene': 'M1AP', 'score': 9.96}, {'connected_gene': 'SEMA4F', 'score': 9.96}, {'connected_gene': 'LINC01291', 'score': 5.58}, {'connected_gene': 'POLE4', 'score': 4.99}, {'connected_gene': 'PIR41645', 'score': 0.39}, {'connected_gene': 'GC02P074881', 'score': 0.39}, {'connected_gene': 'HK2', 'score': 0.21}]
chr2	GH02I074945	74945508	74945537	0.59	[{'connected_gene': 'M1AP', 'score': 9.7}, {'connected_gene': 'SEMA4F', 'score': 9.7}, {'connected_gene': 'LINC01293', 'score': 0.44}, {'connected_gene': 'POLE4', 'score': 0.39}]
chr2	GH02I074647	74647800	74648843	1.24	[{'connected_gene': 'M1AP', 'score': 550.77}, {'connected_gene': 'GC02P074646', 'score': 0.77}]
chr2	GH02I074631	74631874	74633350	0.54	[{'connected_gene': 'SEMA4F', 'score': 11.99}, {'connected_gene': 'LOXL3', 'score': 9.87}, {'connected_gene': 'LBX2-AS1', 'score': 4.84}, {'connected_gene': 'TVP23BP2', 'score': 0.77}, {'connected_gene': 'GC02P074646', 'score': 0.39}, {'connected_gene': 'M1AP', 'score': 0.37}]
chr2	GH02I074745	74745982	74748107	1.06	[{'connected_gene': 'SEMA4F', 'score': 10.61}, {'connected_gene': 'M1AP', 'score': 10.61}, {'connected_gene': 'TACR1', 'score': 5.49}, {'connected_gene': 'RPS28P5', 'score': 0.44}, {'connected_gene': 'LOC102724497', 'score': 0.29}]
chr2	GH02I074739	74739220	74742812	1.38	[{'connected_gene': 'SEMA4F', 'score': 16.61}, {'connected_gene': 'M1AP', 'score': 10.74}, {'connected_gene': 'TLX2', 'score': 10.58}, {'connected_gene': 'SLC4A5', 'score': 4.06}, {'connected_gene': 'HK2', 'score': 2.11}, {'connected_gene': 'RPS28P5', 'score': 0.39}, {'connected_gene': 'LOC102724497', 'score': 0.31}]
chr2	GH02I074806	74806674	74806823	0.95	[{'connected_gene': 'SEMA4F', 'score': 9.31}, {'connected_gene': 'M1AP', 'score': 9.31}, {'connected_gene': 'GC02M074791', 'score': 0.44}, {'connected_gene': 'HK2', 'score': 0.31}, {'connected_gene': 'GC02P074832', 'score': 0.31}]
chr2	GH02I074854	74854243	74855018	0.31	[{'connected_gene': 'SEMA4F', 'score': 10.23}, {'connected_gene': 'M1AP', 'score': 10.22}, {'connected_gene': 'GC02M074860', 'score': 0.39}, {'connected_gene': 'GC02M074813', 'score': 0.37}, {'connected_gene': 'HK2', 'score': 0.34}]
chr2	GH02I074690	74690734	74690863	0.67	[{'connected_gene': 'SEMA4F', 'score': 10.83}, {'connected_gene': 'M1AP', 'score': 10.82}, {'connected_gene': 'LOC105374808', 'score': 0.39}, {'connected_gene': 'PIR44290', 'score': 0.37}]
chr2	GH02I074712	74712794	74712943	0.2	[{'connected_gene': 'SEMA4F', 'score': 10.84}, {'connected_gene': 'M1AP', 'score': 10.83}, {'connected_gene': 'GC02P074717', 'score': 0.77}, {'connected_gene': 'LOC105374808', 'score': 0.39}]
chr2	GH02I074764	74764202	74765400	1.13	[{'connected_gene': 'SEMA4F', 'score': 10.37}, {'connected_gene': 'M1AP', 'score': 10.36}, {'connected_gene': 'RPS28P5', 'score': 0.44}, {'connected_gene': 'LOC102724482', 'score': 0.39}]
chr2	GH02I074755	74755537	74755687	0.22	[{'connected_gene': 'RPS28P5', 'score': 550.77}, {'connected_gene': 'SEMA4F', 'score': 10.01}, {'connected_gene': 'M1AP', 'score': 10.0}, {'connected_gene': 'LOC102724482', 'score': 0.34}]
chr2	GH02I074714	74714614	74716200	1.17	[{'connected_gene': 'GC02P074717', 'score': 550.77}, {'connected_gene': 'LOC102724497', 'score': 550.77}, {'connected_gene': 'INO80B', 'score': 15.4}, {'connected_gene': 'WBP1', 'score': 15.1}, {'connected_gene': 'GCFC2', 'score': 12.96}, {'connected_gene': 'DUSP11', 'score': 12.52}, {'connected_gene': 'HK2', 'score': 11.81}, {'connected_gene': 'SEMA4F', 'score': 10.97}, {'connected_gene': 'M1AP', 'score': 10.96}, {'connected_gene': 'PCGF1', 'score': 10.92}, {'connected_gene': 'ENSG00000270571', 'score': 10.84}, {'connected_gene': 'TPRKB', 'score': 10.75}, {'connected_gene': 'ENSG00000271452', 'score': 10.38}, {'connected_gene': 'ENSG00000159239', 'score': 10.25}, {'connected_gene': 'ENSG00000273245', 'score': 10.01}, {'connected_gene': 'LBX2-AS1', 'score': 4.24}, {'connected_gene': 'RPS28P5', 'score': 0.28}]
chr2	GH02I074619	74619801	74620400	0.77	[{'connected_gene': 'GC02P074620', 'score': 550.77}, {'connected_gene': 'LOC100420888', 'score': 550.77}, {'connected_gene': 'LBX2', 'score': 9.94}, {'connected_gene': 'HK2', 'score': 2.33}, {'connected_gene': 'MTHFD2', 'score': 2.03}, {'connected_gene': 'MOB1A', 'score': 1.93}, {'connected_gene': 'GC02M074616', 'score': 0.44}, {'connected_gene': 'GC02M074605', 'score': 0.44}, {'connected_gene': 'M1AP', 'score': 0.31}]