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
ENST00000258105	[[74699084, 74699379], [74699484, 74699597], [74699695, 74700449]]	[[74699245, 74699379], [74699484, 74699597], [74699695, 74699787]]
ENST00000409710	[[74699112, 74699379], [74699695, 74699814]]	[[74699258, 74699379], [74699695, 74699787]]
ENST00000467349	[[74699118, 74699379], [74699484, 74699674]]	None
ENST00000468875	[[74699119, 74699597], [74699695, 74699791]]	None
NM_053050	[[74699084, 74699379], [74699484, 74699597], [74699695, 74699942]]	[[74699245, 74699379], [74699484, 74699597], [74699695, 74699787]]

Promoter

Chrom	Start	End	Description
chr2	74699770	74699819	CAGE_peak_1_at_MRPL53_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	GH02I074077	74077769	74078277	0.85	[{'connected_gene': 'DUSP11', 'score': 16.77}, {'connected_gene': 'PCGF1', 'score': 15.82}, {'connected_gene': 'CCDC142', 'score': 15.07}, {'connected_gene': 'ENSG00000273245', 'score': 14.66}, {'connected_gene': 'TTC31', 'score': 12.8}, {'connected_gene': 'MOGS', 'score': 11.78}, {'connected_gene': 'AUP1', 'score': 11.23}, {'connected_gene': 'HTRA2', 'score': 10.88}, {'connected_gene': 'MRPL53', 'score': 10.5}, {'connected_gene': 'INO80B', 'score': 10.41}, {'connected_gene': 'DGUOK-AS1', 'score': 5.44}, {'connected_gene': 'FNBP1P1', 'score': 0.26}, {'connected_gene': 'ENSG00000279181', 'score': 0.18}, {'connected_gene': 'TET3', 'score': 0.16}]
chr2	GH02I074480	74480906	74483934	2.07	[{'connected_gene': 'TTC31', 'score': 571.26}, {'connected_gene': 'CCDC142', 'score': 564.77}, {'connected_gene': 'LBX2', 'score': 23.1}, {'connected_gene': 'AUP1', 'score': 17.22}, {'connected_gene': 'MOGS', 'score': 14.69}, {'connected_gene': 'ENSG00000273245', 'score': 13.71}, {'connected_gene': 'PCGF1', 'score': 13.68}, {'connected_gene': 'DUSP11', 'score': 13.54}, {'connected_gene': 'MTHFD2', 'score': 12.01}, {'connected_gene': 'MOB1A', 'score': 10.08}, {'connected_gene': 'INO80B', 'score': 9.98}, {'connected_gene': 'MRPL53', 'score': 0.44}]
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	GH02I074513	74513713	74516751	1.35	[{'connected_gene': 'TLX2', 'score': 550.77}, {'connected_gene': 'LBX2', 'score': 25.25}, {'connected_gene': 'WBP1', 'score': 20.3}, {'connected_gene': 'INO80B', 'score': 14.95}, {'connected_gene': 'PCGF1', 'score': 12.76}, {'connected_gene': 'ALMS1P1', 'score': 10.92}, {'connected_gene': 'MRPL53', 'score': 10.74}, {'connected_gene': 'CCDC142', 'score': 10.43}, {'connected_gene': 'ENSG00000159239', 'score': 9.95}, {'connected_gene': 'DQX1', 'score': 0.39}]
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	GH02I074551	74550761	74550783	0.4	[{'connected_gene': 'HTRA2', 'score': 11.69}, {'connected_gene': 'AUP1', 'score': 11.69}, {'connected_gene': 'DQX1', 'score': 10.72}, {'connected_gene': 'MRPL53', 'score': 10.68}, {'connected_gene': 'WBP1', 'score': 10.57}, {'connected_gene': 'MOGS', 'score': 10.41}, {'connected_gene': 'TLX2', 'score': 10.38}, {'connected_gene': 'PCGF1', 'score': 10.37}, {'connected_gene': 'DOK1', 'score': 0.77}, {'connected_gene': 'LOXL3', 'score': 0.44}]
chr2	GH02I073906	73906485	73909977	0.83	[{'connected_gene': 'WBP1', 'score': 21.63}, {'connected_gene': 'PCGF1', 'score': 17.15}, {'connected_gene': 'INO80B', 'score': 16.54}, {'connected_gene': 'ALMS1', 'score': 14.05}, {'connected_gene': 'CCDC142', 'score': 13.5}, {'connected_gene': 'MRPL53', 'score': 11.37}, {'connected_gene': 'TTC31', 'score': 9.91}, {'connected_gene': 'GC02M073905', 'score': 0.77}, {'connected_gene': 'ACTG2', 'score': 0.37}]
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	GH02I074471	74471188	74473710	2.1	[{'connected_gene': 'MRPL53', 'score': 550.77}, {'connected_gene': 'LBX2', 'score': 22.48}, {'connected_gene': 'MTHFD2', 'score': 12.01}, {'connected_gene': 'WBP1', 'score': 11.07}, {'connected_gene': 'INO80B', 'score': 10.56}, {'connected_gene': 'DGUOK-AS1', 'score': 9.8}, {'connected_gene': 'MOGS', 'score': 0.44}, {'connected_gene': 'CCDC142', 'score': 0.39}]
chr2	GH02I074476	74476616	74477831	0.81	[{'connected_gene': 'MRPL53', 'score': 0.77}, {'connected_gene': 'TTC31', 'score': 0.44}, {'connected_gene': 'CCDC142', 'score': 0.44}]
chr2	GH02I074119	74119581	74121143	1.59	[{'connected_gene': 'FNBP1P1', 'score': 604.51}, {'connected_gene': 'LOC107985899', 'score': 43.13}, {'connected_gene': 'PCGF1', 'score': 36.3}, {'connected_gene': 'CCDC142', 'score': 35.48}, {'connected_gene': 'TTC31', 'score': 31.4}, {'connected_gene': 'DUSP11', 'score': 28.42}, {'connected_gene': 'ENSG00000273245', 'score': 26.53}, {'connected_gene': 'AUP1', 'score': 26.39}, {'connected_gene': 'MOGS', 'score': 24.32}, {'connected_gene': 'WBP1', 'score': 20.49}, {'connected_gene': 'MRPL53', 'score': 19.04}, {'connected_gene': 'INO80B', 'score': 18.41}, {'connected_gene': 'MTHFD2', 'score': 12.14}, {'connected_gene': 'HTRA2', 'score': 10.88}, {'connected_gene': 'MOB1A', 'score': 10.25}, {'connected_gene': 'ALMS1P1', 'score': 9.76}, {'connected_gene': 'ENSG00000279181', 'score': 0.13}]