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
ENST00000428847	[[101145587, 101146278], [101146388, 101146592], [101149792, 101149895], [101152910, 101154396], [101157278, 101157680]]	[[101146029, 101146278], [101146388, 101146592], [101149792, 101149895], [101152910, 101154396], [101157278, 101157363]]
ENST00000517806	[[101145783, 101146278], [101146388, 101146592], [101149792, 101149895], [101152910, 101154396], [101157234, 101158028]]	[[101157252, 101157363]]
ENST00000520987	[[101149120, 101149895], [101152910, 101154396], [101157278, 101157669]]	None
NR_036491	[[101145587, 101146278], [101146388, 101146592], [101149792, 101149895], [101152910, 101154396], [101157234, 101158099]]	None
NM_001029860	[[101145587, 101146278], [101146388, 101146592], [101149792, 101149895], [101152910, 101154396], [101157278, 101158099]]	[[101146029, 101146278], [101146388, 101146592], [101149792, 101149895], [101152910, 101154396], [101157278, 101157363]]

Promoter

Chrom	Start	End	Description
chr8	101158029	101158054	CAGE_peak_1_at_FBXO43_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	GH08I100143	100143758	100144800	1.15	[{'connected_gene': 'SPAG1', 'score': 22.95}, {'connected_gene': 'FBXO43', 'score': 0.44}, {'connected_gene': 'RGS22', 'score': 0.39}]
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	GH08I100145	100145107	100146434	1.84	[{'connected_gene': 'FBXO43', 'score': 550.77}, {'connected_gene': 'PABPC1', 'score': 10.21}, {'connected_gene': 'RGS22', 'score': 0.39}]
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}]