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
ENST00000599698	[[8554939, 8555256], [8555359, 8555393], [8555477, 8555759]]	None
ENST00000423345	[[8554939, 8555110], [8555221, 8555256], [8555359, 8555393], [8555477, 8555640], [8555770, 8555879], [8555983, 8556041], [8562647, 8562724], [8563106, 8563173], [8563259, 8564664], [8567448, 8567996]]	[[8555072, 8555110], [8555221, 8555256], [8555359, 8555393], [8555477, 8555640], [8555770, 8555879], [8555983, 8556041], [8562647, 8562724], [8563106, 8563173], [8563259, 8564664], [8567448, 8567475]]
ENST00000255612	[[8554940, 8555110], [8555221, 8555256], [8555359, 8555393], [8555477, 8555640], [8555770, 8555879], [8555983, 8556041], [8562647, 8562724], [8563109, 8563173], [8563259, 8564664], [8567448, 8567495]]	[[8555072, 8555110], [8555221, 8555256], [8555359, 8555393], [8555477, 8555640], [8555770, 8555879], [8555983, 8556041], [8562647, 8562724], [8563109, 8563173], [8563259, 8564664], [8567448, 8567475]]
ENST00000594696	[[8554968, 8555110], [8555221, 8555256], [8555359, 8555393], [8555477, 8555640], [8555770, 8555879], [8555983, 8556907]]	None
ENST00000600262	[[8564079, 8564358], [8564430, 8564664], [8567448, 8567518]]	[[8564079, 8564358], [8564430, 8564664], [8567448, 8567475]]
NM_032152	[[8554939, 8555110], [8555221, 8555256], [8555359, 8555393], [8555477, 8555640], [8555770, 8555879], [8555983, 8556041], [8562647, 8562724], [8563106, 8563173], [8563259, 8564664], [8567448, 8567538]]	[[8555072, 8555110], [8555221, 8555256], [8555359, 8555393], [8555477, 8555640], [8555770, 8555879], [8555983, 8556041], [8562647, 8562724], [8563106, 8563173], [8563259, 8564664], [8567448, 8567475]]

Promoter

Chrom	Start	End	Description
chr19	8567478	8567493	CAGE_peak_2_at_PRAM1_5end
chr19	8567505	8567540	CAGE_peak_1_at_PRAM1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I008085	8085294	8086910	0.97	[{'connected_gene': 'FBN3', 'score': 5.41}, {'connected_gene': 'MAP2K7', 'score': 5.3}, {'connected_gene': 'PRAM1', 'score': 5.01}, {'connected_gene': 'GC19M008058', 'score': 0.31}, {'connected_gene': 'GC19M008113', 'score': 0.31}]
chr19	GH19I008499	8499757	8500734	0.84	[{'connected_gene': 'ZNF414', 'score': 9.9}, {'connected_gene': 'PRAM1', 'score': 0.77}, {'connected_gene': 'GC19P008487', 'score': 0.39}]
chr19	GH19I008511	8511857	8520274	2.55	[{'connected_gene': 'ZNF414', 'score': 572.01}, {'connected_gene': 'XAB2', 'score': 22.13}, {'connected_gene': 'ZNF317', 'score': 21.76}, {'connected_gene': 'MYO1F', 'score': 20.11}, {'connected_gene': 'ZNF177', 'score': 16.48}, {'connected_gene': 'ZNF266', 'score': 13.77}, {'connected_gene': 'PRAM1', 'score': 13.39}, {'connected_gene': 'HNRNPM', 'score': 11.86}, {'connected_gene': 'MAP2K7', 'score': 10.38}, {'connected_gene': 'ENSG00000267273', 'score': 10.09}, {'connected_gene': 'ZNF558', 'score': 10.03}, {'connected_gene': 'ZNF699', 'score': 9.91}, {'connected_gene': 'STXBP2', 'score': 9.72}, {'connected_gene': 'MARCH2', 'score': 9.19}, {'connected_gene': 'ENSG00000268618', 'score': 0.29}]
chr19	GH19I008504	8504161	8504908	0.92	[{'connected_gene': 'PRAM1', 'score': 550.77}, {'connected_gene': 'GC19P008503', 'score': 550.77}, {'connected_gene': 'ZNF414', 'score': 10.0}]
chr19	GH19I008468	8468257	8469417	0.46	[{'connected_gene': 'PRAM1', 'score': 21.35}, {'connected_gene': 'MARCH2', 'score': 15.11}, {'connected_gene': 'GC19P008487', 'score': 0.37}, {'connected_gene': 'ENSG00000279827', 'score': 0.34}, {'connected_gene': 'HNRNPM', 'score': 0.34}]
chr19	GH19I008484	8484353	8485257	0.31	[{'connected_gene': 'PRAM1', 'score': 9.27}, {'connected_gene': 'GC19P008487', 'score': 0.77}, {'connected_gene': 'ENSG00000279827', 'score': 0.28}, {'connected_gene': 'HNRNPM', 'score': 0.26}]
chr19	GH19I008482	8482150	8482943	0.54	[{'connected_gene': 'PRAM1', 'score': 10.14}, {'connected_gene': 'GC19P008487', 'score': 0.77}, {'connected_gene': 'ENSG00000279827', 'score': 0.28}, {'connected_gene': 'HNRNPM', 'score': 0.28}]
chr19	GH19I008453	8453819	8454056	0.38	[{'connected_gene': 'PRAM1', 'score': 20.76}, {'connected_gene': 'ENSG00000279827', 'score': 0.44}, {'connected_gene': 'HNRNPM', 'score': 0.44}, {'connected_gene': 'GC19P008487', 'score': 0.29}]
chr19	GH19I008466	8466157	8466326	0.31	[{'connected_gene': 'PRAM1', 'score': 12.46}, {'connected_gene': 'ENSG00000279827', 'score': 0.34}, {'connected_gene': 'HNRNPM', 'score': 0.34}, {'connected_gene': 'GC19P008487', 'score': 0.34}]
chr19	GH19I008469	8469796	8470807	0.46	[{'connected_gene': 'PRAM1', 'score': 19.04}, {'connected_gene': 'GC19P008487', 'score': 0.37}, {'connected_gene': 'ENSG00000279827', 'score': 0.34}, {'connected_gene': 'HNRNPM', 'score': 0.31}]
chr19	GH19I008477	8477793	8478629	0.49	[{'connected_gene': 'PRAM1', 'score': 9.26}, {'connected_gene': 'GC19P008487', 'score': 0.44}, {'connected_gene': 'ENSG00000279827', 'score': 0.29}, {'connected_gene': 'HNRNPM', 'score': 0.29}]
chr19	GH19I008441	8441484	8442413	0.56	[{'connected_gene': 'PRAM1', 'score': 5.0}, {'connected_gene': 'HNRNPM', 'score': 0.77}, {'connected_gene': 'GC19M008427', 'score': 0.39}]
chr19	GH19I008501	8501805	8503850	1.47	[{'connected_gene': 'PRAM1', 'score': 564.32}, {'connected_gene': 'GC19P008503', 'score': 550.77}, {'connected_gene': 'MYO1F', 'score': 15.64}, {'connected_gene': 'ZNF414', 'score': 10.77}, {'connected_gene': 'MARCH2', 'score': 8.65}, {'connected_gene': 'GC19P008487', 'score': 0.37}]
chr19	GH19I008050	8050001	8054897	1.87	[{'connected_gene': 'CCL25', 'score': 550.77}, {'connected_gene': 'RETN', 'score': 5.24}, {'connected_gene': 'MCEMP1', 'score': 4.67}, {'connected_gene': 'STXBP2', 'score': 2.58}, {'connected_gene': 'PRAM1', 'score': 1.5}, {'connected_gene': 'GC19M008058', 'score': 0.44}]
chr19	GH19I008472	8472281	8474906	0.87	[{'connected_gene': 'MARCH2', 'score': 27.32}, {'connected_gene': 'PRAM1', 'score': 18.38}, {'connected_gene': 'GC19P008487', 'score': 0.39}, {'connected_gene': 'ENSG00000279827', 'score': 0.31}, {'connected_gene': 'HNRNPM', 'score': 0.31}]
chr19	GH19I008449	8449844	8450586	0.46	[{'connected_gene': 'MARCH2', 'score': 32.27}, {'connected_gene': 'PRAM1', 'score': 11.83}, {'connected_gene': 'ENSG00000279827', 'score': 0.77}, {'connected_gene': 'HNRNPM', 'score': 0.44}, {'connected_gene': 'GC19P008487', 'score': 0.28}]
chr19	GH19I008451	8451234	8452821	0.75	[{'connected_gene': 'MARCH2', 'score': 32.24}, {'connected_gene': 'PRAM1', 'score': 17.34}, {'connected_gene': 'ENSG00000279827', 'score': 0.44}, {'connected_gene': 'HNRNPM', 'score': 0.44}, {'connected_gene': 'GC19P008487', 'score': 0.28}]
chr19	GH19I008457	8457921	8461710	0.85	[{'connected_gene': 'MARCH2', 'score': 38.52}, {'connected_gene': 'PRAM1', 'score': 8.97}, {'connected_gene': 'ENSG00000279827', 'score': 0.39}, {'connected_gene': 'HNRNPM', 'score': 0.37}, {'connected_gene': 'GC19P008487', 'score': 0.31}]
chr19	GH19I008422	8422859	8425159	1.48	[{'connected_gene': 'MARCH2', 'score': 14.62}, {'connected_gene': 'PRAM1', 'score': 4.85}, {'connected_gene': 'MYO1F', 'score': 3.87}, {'connected_gene': 'PIR43177', 'score': 0.77}, {'connected_gene': 'GC19P008426', 'score': 0.77}, {'connected_gene': 'ENSG00000268931', 'score': 0.77}]
chr19	GH19I008492	8492409	8496444	1.07	[{'connected_gene': 'MARCH2', 'score': 29.33}, {'connected_gene': 'PRAM1', 'score': 6.81}, {'connected_gene': 'GC19P008487', 'score': 0.44}]
chr19	GH19I008540	8540697	8541362	1.03	[{'connected_gene': 'MYO1F', 'score': 20.74}, {'connected_gene': 'PRAM1', 'score': 6.99}, {'connected_gene': 'MARCH2', 'score': 2.49}, {'connected_gene': 'ENSG00000268618', 'score': 0.44}, {'connected_gene': 'ZNF414', 'score': 0.31}]
chr19	GH19I008574	8574752	8578173	1.53	[{'connected_gene': 'MYO1F', 'score': 593.39}, {'connected_gene': 'GC19M008577', 'score': 550.77}, {'connected_gene': 'ENSG00000279396', 'score': 550.77}, {'connected_gene': 'PRAM1', 'score': 10.7}, {'connected_gene': 'ENSG00000267986', 'score': 10.5}, {'connected_gene': 'MARCH2', 'score': 1.91}]
chr19	GH19I008542	8542256	8542567	0.26	[{'connected_gene': 'MYO1F', 'score': 20.82}, {'connected_gene': 'PRAM1', 'score': 5.74}, {'connected_gene': 'RAB11B', 'score': 1.24}, {'connected_gene': 'ENSG00000268618', 'score': 0.44}, {'connected_gene': 'ZNF414', 'score': 0.31}]
chr19	GH19I008637	8637801	8641251	1.37	[{'connected_gene': 'MYO1F', 'score': 31.26}, {'connected_gene': 'ADAMTS10', 'score': 12.1}, {'connected_gene': 'ACTL9', 'score': 11.65}, {'connected_gene': 'PRAM1', 'score': 5.76}, {'connected_gene': 'LOC100128428', 'score': 4.78}, {'connected_gene': 'LINC01862', 'score': 0.44}, {'connected_gene': 'ENSG00000261866', 'score': 0.28}, {'connected_gene': 'GC19P008677', 'score': 0.28}]
chr19	GH19I008566	8566854	8574398	1.21	[{'connected_gene': 'MYO1F', 'score': 40.23}, {'connected_gene': 'ZNF266', 'score': 19.92}, {'connected_gene': 'HNRNPM', 'score': 19.59}, {'connected_gene': 'ZNF699', 'score': 19.38}, {'connected_gene': 'ZNF317', 'score': 15.5}, {'connected_gene': 'ZNF558', 'score': 15.19}, {'connected_gene': 'ELAVL1', 'score': 14.3}, {'connected_gene': 'ZNF559', 'score': 12.93}, {'connected_gene': 'XAB2', 'score': 11.99}, {'connected_gene': 'PRAM1', 'score': 11.53}, {'connected_gene': 'MAP2K7', 'score': 10.75}, {'connected_gene': 'CD209', 'score': 10.12}, {'connected_gene': 'ENSG00000267986', 'score': 9.84}, {'connected_gene': 'ZNF426', 'score': 9.73}, {'connected_gene': 'MARCH2', 'score': 3.32}, {'connected_gene': 'RAB11B', 'score': 1.18}, {'connected_gene': 'ENSG00000279396', 'score': 0.44}, {'connected_gene': 'PIR49089', 'score': 0.44}]
chr19	GH19I008491	8491677	8491826	0.54	[{'connected_gene': 'GC19P008487', 'score': 0.77}, {'connected_gene': 'PRAM1', 'score': 0.39}]
chr19	GH19I008485	8485788	8490491	1.06	[{'connected_gene': 'GC19P008487', 'score': 550.77}, {'connected_gene': 'MARCH2', 'score': 38.36}, {'connected_gene': 'PRAM1', 'score': 9.36}, {'connected_gene': 'HNRNPM', 'score': 0.26}]
chr19	GH19I008444	8444200	8448139	2.24	[{'connected_gene': 'ENSG00000279827', 'score': 550.77}, {'connected_gene': 'HNRNPM', 'score': 550.77}, {'connected_gene': 'MARCH2', 'score': 32.29}, {'connected_gene': 'PRAM1', 'score': 9.32}, {'connected_gene': 'GC19P008487', 'score': 0.26}]