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
ENST00000353107	[[101162811, 101162937], [101163574, 101163644], [101164051, 101164144], [101165521, 101166230]]	[[101163583, 101163644], [101164051, 101164144], [101165521, 101165544]]
ENST00000522439	[[101162850, 101162937], [101163574, 101163644], [101164051, 101164437]]	[[101163583, 101163644], [101164051, 101164194]]
ENST00000519765	[[101162852, 101162937], [101163561, 101164144], [101165521, 101165874]]	None
NM_005034	[[101162838, 101162937], [101163574, 101163644], [101164051, 101164144], [101165521, 101166230]]	[[101163583, 101163644], [101164051, 101164144], [101165521, 101165544]]

Promoter

Chrom	Start	End	Description
chr8	101162849	101162903	CAGE_peak_1_at_POLR2K_5end
chr8	101163570	101163583	CAGE_peak_2_at_POLR2K_5end
chr8	101163590	101163606	CAGE_peak_3_at_POLR2K_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I100218	100218274	100219395	0.91	[{'connected_gene': 'SPAG1', 'score': 22.33}, {'connected_gene': 'ENSG00000202310', 'score': 11.45}, {'connected_gene': 'POLR2K', 'score': 11.08}, {'connected_gene': 'FBXO43', 'score': 11.08}, {'connected_gene': 'RGS22', 'score': 10.07}, {'connected_gene': 'LOC105375669', 'score': 0.39}, {'connected_gene': 'ENSG00000199667', 'score': 0.29}]
chr8	GH08I100530	100530910	100534400	0.62	[{'connected_gene': 'SPAG1', 'score': 11.45}, {'connected_gene': 'ENSG00000202310', 'score': 11.45}, {'connected_gene': 'ENSG00000253666', 'score': 11.43}, {'connected_gene': 'FBXO43', 'score': 10.99}, {'connected_gene': 'POLR2K', 'score': 10.99}, {'connected_gene': 'ENSG00000253217', 'score': 10.93}, {'connected_gene': 'RNF19A', 'score': 10.93}, {'connected_gene': 'ANKRD46', 'score': 10.91}, {'connected_gene': 'RGS22', 'score': 9.91}, {'connected_gene': 'LOC105375674', 'score': 5.11}, {'connected_gene': 'GC08M100535', 'score': 0.37}, {'connected_gene': 'ENSG00000254364', 'score': 0.26}]
chr8	GH08I100290	100290349	100292610	0.49	[{'connected_gene': 'SPAG1', 'score': 12.57}, {'connected_gene': 'RNF19A', 'score': 10.72}, {'connected_gene': 'POLR2K', 'score': 10.66}, {'connected_gene': 'FBXO43', 'score': 10.66}, {'connected_gene': 'PIR38264', 'score': 0.25}]
chr8	GH08I100149	100149176	100151671	2.04	[{'connected_gene': 'POLR2K', 'score': 550.77}, {'connected_gene': 'FBXO43', 'score': 550.77}, {'connected_gene': 'SPAG1', 'score': 22.99}, {'connected_gene': 'PABPC1', 'score': 10.21}, {'connected_gene': 'RGS22', 'score': 0.37}]
chr8	GH08I100540	100540801	100541200	0.94	[{'connected_gene': 'POLR2K', 'score': 12.38}, {'connected_gene': 'FBXO43', 'score': 12.38}, {'connected_gene': 'ENSG00000202310', 'score': 11.17}, {'connected_gene': 'SPAG1', 'score': 11.17}, {'connected_gene': 'RGS22', 'score': 10.33}, {'connected_gene': 'GC08M100535', 'score': 0.44}, {'connected_gene': 'ANKRD46', 'score': 0.37}, {'connected_gene': 'ENSG00000254364', 'score': 0.25}]
chr8	GH08I100237	100237578	100239370	1.05	[{'connected_gene': 'FBXO43', 'score': 16.08}, {'connected_gene': 'POLR2K', 'score': 10.89}, {'connected_gene': 'ENSG00000253666', 'score': 9.76}, {'connected_gene': 'SPAG1', 'score': 9.46}, {'connected_gene': 'LOC105375668', 'score': 0.77}, {'connected_gene': 'LOC105375669', 'score': 0.44}]
chr8	GH08I100573	100573660	100574280	0.46	[{'connected_gene': 'SNX31', 'score': 10.56}, {'connected_gene': 'LOC105375671', 'score': 10.46}, {'connected_gene': 'PABPC1', 'score': 10.21}, {'connected_gene': 'POLR2K', 'score': 10.09}, {'connected_gene': 'FBXO43', 'score': 10.09}, {'connected_gene': 'RGS22', 'score': 9.9}, {'connected_gene': 'ANKRD46', 'score': 0.39}]
chr8	GH08I100525	100525690	100530162	1.36	[{'connected_gene': 'ANKRD46', 'score': 15.25}, {'connected_gene': 'FBXO43', 'score': 10.89}, {'connected_gene': 'POLR2K', 'score': 10.89}, {'connected_gene': 'ENSG00000253666', 'score': 10.85}, {'connected_gene': 'ENSG00000202310', 'score': 10.83}, {'connected_gene': 'SPAG1', 'score': 10.83}, {'connected_gene': 'ENSG00000253217', 'score': 10.65}, {'connected_gene': 'RNF19A', 'score': 10.65}, {'connected_gene': 'RGS22', 'score': 10.27}, {'connected_gene': 'LOC105375674', 'score': 5.11}, {'connected_gene': 'GC08M100535', 'score': 0.34}, {'connected_gene': 'ENSG00000254364', 'score': 0.28}]
chr8	GH08I100567	100567060	100568056	0.67	[{'connected_gene': 'RNU4-83P', 'score': 10.58}, {'connected_gene': 'LOC105375671', 'score': 10.56}, {'connected_gene': 'SNX31', 'score': 10.48}, {'connected_gene': 'POLR2K', 'score': 10.09}, {'connected_gene': 'FBXO43', 'score': 10.09}, {'connected_gene': 'PABPC1', 'score': 9.91}, {'connected_gene': 'RGS22', 'score': 9.81}, {'connected_gene': 'ANKRD46', 'score': 0.44}]