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
ENST00000327492	[[41829495, 41833411], [41842382, 41843027]]	[[41832314, 41833349]]
ENST00000434408	[[41833045, 41833411], [41842378, 41842789]]	[[41833045, 41833349]]
NM_016272	[[41829491, 41833411], [41842382, 41843027]]	[[41832314, 41833349]]

Promoter

Chrom	Start	End	Description
chr22	41842557	41842560	CAGE_peak_6_at_TOB2_5end
chr22	41842781	41842835	CAGE_peak_1_at_TOB2_5end
chr22	41842839	41842861	CAGE_peak_2_at_TOB2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr22	GH22I041907	41907572	41911803	1.35	[{'connected_gene': 'SMDT1', 'score': 10.55}, {'connected_gene': 'CENPM', 'score': 6.57}, {'connected_gene': 'TNFRSF13C', 'score': 6.17}, {'connected_gene': 'CSDC2', 'score': 4.09}, {'connected_gene': 'SHISA8', 'score': 2.24}, {'connected_gene': 'TOB2', 'score': 1.29}, {'connected_gene': 'GC22P041968', 'score': 0.77}]
chr22	GH22I041467	41467323	41474336	2.48	[{'connected_gene': 'PHF5A', 'score': 563.52}, {'connected_gene': 'ACO2', 'score': 550.77}, {'connected_gene': 'POLR3H', 'score': 16.79}, {'connected_gene': 'MEI1', 'score': 14.5}, {'connected_gene': 'TOB2', 'score': 12.26}, {'connected_gene': 'EP300', 'score': 11.32}, {'connected_gene': 'NAGA', 'score': 10.56}, {'connected_gene': 'CSDC2', 'score': 10.44}, {'connected_gene': 'L3MBTL2', 'score': 10.34}, {'connected_gene': 'FAM109B', 'score': 9.96}, {'connected_gene': 'ENSG00000232754', 'score': 9.94}, {'connected_gene': 'SMDT1', 'score': 4.36}, {'connected_gene': 'GC22M042674', 'score': 0.34}]
chr22	GH22I041483	41483743	41489745	0.97	[{'connected_gene': 'CSDC2', 'score': 10.83}, {'connected_gene': 'DESI1', 'score': 9.13}, {'connected_gene': 'PMM1', 'score': 8.54}, {'connected_gene': 'TOB2', 'score': 4.09}, {'connected_gene': 'GC22M042674', 'score': 0.44}, {'connected_gene': 'ACO2', 'score': 0.37}]
chr22	GH22I041815	41815622	41819505	1.02	[{'connected_gene': 'EP300', 'score': 78.97}, {'connected_gene': 'RN7SKP80', 'score': 67.63}, {'connected_gene': 'PHF5A', 'score': 62.5}, {'connected_gene': 'POLDIP3', 'score': 57.74}, {'connected_gene': 'ENSG00000232754', 'score': 34.6}, {'connected_gene': 'RPL5P34', 'score': 32.78}, {'connected_gene': 'RRP7BP', 'score': 32.44}, {'connected_gene': 'L3MBTL2', 'score': 30.67}, {'connected_gene': 'XRCC6', 'score': 28.71}, {'connected_gene': 'DNAJB7', 'score': 28.65}, {'connected_gene': 'SLC25A17', 'score': 23.58}, {'connected_gene': 'MEI1', 'score': 23.52}, {'connected_gene': 'EP300-AS1', 'score': 22.13}, {'connected_gene': 'LOC100506544', 'score': 21.01}, {'connected_gene': 'ZC3H7B', 'score': 20.69}, {'connected_gene': 'SNU13', 'score': 19.47}, {'connected_gene': 'POLR3H', 'score': 18.94}, {'connected_gene': 'TOB2', 'score': 13.65}, {'connected_gene': 'NAGA', 'score': 11.65}, {'connected_gene': 'XPNPEP3', 'score': 10.57}, {'connected_gene': 'NDUFA6-AS1', 'score': 10.48}, {'connected_gene': 'C22orf46', 'score': 10.3}, {'connected_gene': 'TEF', 'score': 10.01}, {'connected_gene': 'WBP2NL', 'score': 9.81}, {'connected_gene': 'ENSG00000227370', 'score': 4.53}, {'connected_gene': 'CCDC134', 'score': 4.36}, {'connected_gene': 'PIR36580', 'score': 0.77}, {'connected_gene': 'PIR35601', 'score': 0.44}]
chr22	GH22I041090	41090531	41095201	2.07	[{'connected_gene': 'EP300', 'score': 596.97}, {'connected_gene': 'MIR1281', 'score': 550.77}, {'connected_gene': 'PHF5A', 'score': 34.12}, {'connected_gene': 'ENSG00000272834', 'score': 31.7}, {'connected_gene': 'L3MBTL2', 'score': 25.42}, {'connected_gene': 'XRCC6', 'score': 23.44}, {'connected_gene': 'LOC100506544', 'score': 19.85}, {'connected_gene': 'EP300-AS1', 'score': 16.18}, {'connected_gene': 'ENSG00000232754', 'score': 15.17}, {'connected_gene': 'ENSG00000227413', 'score': 14.53}, {'connected_gene': 'TOB2', 'score': 13.65}, {'connected_gene': 'NAGA', 'score': 11.61}, {'connected_gene': 'SLC25A17', 'score': 10.91}, {'connected_gene': 'RPL4P6', 'score': 10.55}, {'connected_gene': 'MKL1', 'score': 10.25}, {'connected_gene': 'ZC3H7B', 'score': 10.15}, {'connected_gene': 'LOC100313968', 'score': 9.91}, {'connected_gene': 'MEI1', 'score': 8.86}, {'connected_gene': 'RANGAP1', 'score': 5.68}, {'connected_gene': 'GC22M042622', 'score': 0.23}]
chr22	GH22I041438	41438427	41440347	0.52	[{'connected_gene': 'POLR3H', 'score': 24.8}, {'connected_gene': 'MEI1', 'score': 20.1}, {'connected_gene': 'SNU13', 'score': 11.19}, {'connected_gene': 'LOC100506544', 'score': 10.92}, {'connected_gene': 'C22orf46', 'score': 10.24}, {'connected_gene': 'PIR52836', 'score': 0.77}, {'connected_gene': 'GC22P041443', 'score': 0.77}, {'connected_gene': 'TOB2', 'score': 0.44}]
chr22	GH22I041459	41459768	41461291	0.38	[{'connected_gene': 'MEI1', 'score': 20.29}, {'connected_gene': 'CSDC2', 'score': 4.35}, {'connected_gene': 'CCDC134', 'score': 4.03}, {'connected_gene': 'PHF5A', 'score': 0.44}, {'connected_gene': 'TOB2', 'score': 0.39}, {'connected_gene': 'GC22P041443', 'score': 0.37}]
chr22	GH22I041401	41401487	41403123	1.43	[{'connected_gene': 'MEI1', 'score': 20.38}, {'connected_gene': 'POLR3H', 'score': 16.31}, {'connected_gene': 'CSDC2', 'score': 4.29}, {'connected_gene': 'LOC100506544', 'score': 4.09}, {'connected_gene': 'CHADL', 'score': 3.69}, {'connected_gene': 'TEF', 'score': 2.42}, {'connected_gene': 'TOB2', 'score': 1.39}, {'connected_gene': 'PIR55540', 'score': 0.77}, {'connected_gene': 'GC22P041413', 'score': 0.39}, {'connected_gene': 'GC22P041361', 'score': 0.26}]
chr22	GH22I041387	41387049	41388419	0.2	[{'connected_gene': 'MEI1', 'score': 15.66}, {'connected_gene': 'TOB2', 'score': 5.83}, {'connected_gene': 'PIR38134', 'score': 0.44}, {'connected_gene': 'LOC105373042', 'score': 0.44}, {'connected_gene': 'TEF', 'score': 0.34}, {'connected_gene': 'GC22P041361', 'score': 0.31}]
chr22	GH22I041451	41451908	41452404	0.2	[{'connected_gene': 'TOB2', 'score': 0.77}, {'connected_gene': 'GC22P041443', 'score': 0.39}, {'connected_gene': 'PHF5A', 'score': 0.37}]
chr22	GH22I041444	41443745	41449686	2.66	[{'connected_gene': 'TOB2', 'score': 553.61}, {'connected_gene': 'LOC105373043', 'score': 550.77}, {'connected_gene': 'L3MBTL2', 'score': 74.71}, {'connected_gene': 'ZC3H7B', 'score': 47.48}, {'connected_gene': 'PHF5A', 'score': 45.99}, {'connected_gene': 'EP300', 'score': 43.48}, {'connected_gene': 'SLC25A17', 'score': 32.01}, {'connected_gene': 'POLR3H', 'score': 27.17}, {'connected_gene': 'NDUFA6-AS1', 'score': 23.6}, {'connected_gene': 'XRCC6', 'score': 21.59}, {'connected_gene': 'MEI1', 'score': 20.39}, {'connected_gene': 'TEF', 'score': 20.26}, {'connected_gene': 'ACO2', 'score': 12.68}, {'connected_gene': 'CYP2D8P', 'score': 11.52}, {'connected_gene': 'TCF20', 'score': 11.23}, {'connected_gene': 'NAGA', 'score': 10.56}, {'connected_gene': 'SMDT1', 'score': 10.31}, {'connected_gene': 'ENSG00000232754', 'score': 9.94}, {'connected_gene': 'SNU13', 'score': 9.87}, {'connected_gene': 'ENSG00000273366', 'score': 9.7}, {'connected_gene': 'CSDC2', 'score': 4.33}, {'connected_gene': 'SHISA8', 'score': 3.37}, {'connected_gene': 'GC22P041443', 'score': 0.44}]
chr22	GH22I041677	41677628	41677945	0.34	[{'connected_gene': 'RNU6-476P', 'score': 550.77}, {'connected_gene': 'GC22P041680', 'score': 550.77}, {'connected_gene': 'ENSG00000273424', 'score': 4.2}, {'connected_gene': 'TOB2', 'score': 1.56}, {'connected_gene': 'PIR47284', 'score': 0.77}, {'connected_gene': 'SNU13', 'score': 0.39}]
chr22	GH22I041443	41443217	41443601	0.82	[{'connected_gene': 'GC22P041443', 'score': 550.77}, {'connected_gene': 'ACO2', 'score': 11.81}, {'connected_gene': 'PHF5A', 'score': 11.81}, {'connected_gene': 'CYP2D6', 'score': 5.53}, {'connected_gene': 'TOB2', 'score': 3.41}, {'connected_gene': 'LOC105373043', 'score': 0.77}]
chr22	GH22I041508	41508774	41508957	0.42	[{'connected_gene': 'PIR38077', 'score': 550.77}, {'connected_gene': 'CSDC2', 'score': 11.22}, {'connected_gene': 'ZC3H7B', 'score': 10.53}, {'connected_gene': 'RANGAP1', 'score': 10.53}, {'connected_gene': 'RNU6-375P', 'score': 10.47}, {'connected_gene': 'CHADL', 'score': 4.86}, {'connected_gene': 'TEF', 'score': 3.68}, {'connected_gene': 'TOB2', 'score': 1.56}, {'connected_gene': 'WBP2NL', 'score': 1.52}, {'connected_gene': 'SEPT3', 'score': 1.42}, {'connected_gene': 'PIR57348', 'score': 0.37}, {'connected_gene': 'ACO2', 'score': 0.28}]
chr22	GH22I041441	41441880	41443160	0.31	[{'connected_gene': 'GC22P041443', 'score': 550.77}, {'connected_gene': 'POLR3H', 'score': 15.95}, {'connected_gene': 'ACO2', 'score': 11.88}, {'connected_gene': 'PHF5A', 'score': 11.88}, {'connected_gene': 'LOC105373043', 'score': 0.44}, {'connected_gene': 'TOB2', 'score': 0.44}]
chr22	GH22I041409	41409898	41416053	1.88	[{'connected_gene': 'GC22P041413', 'score': 550.77}, {'connected_gene': 'MEI1', 'score': 16.8}, {'connected_gene': 'EP300', 'score': 13.98}, {'connected_gene': 'POLR3H', 'score': 12.99}, {'connected_gene': 'PHF5A', 'score': 12.97}, {'connected_gene': 'CYP2D8P', 'score': 11.51}, {'connected_gene': 'TCF20', 'score': 11.23}, {'connected_gene': 'SLC25A17', 'score': 10.88}, {'connected_gene': 'NAGA', 'score': 10.56}, {'connected_gene': 'ENSG00000272834', 'score': 10.01}, {'connected_gene': 'ENSG00000232754', 'score': 9.95}, {'connected_gene': 'ENSG00000273366', 'score': 9.7}, {'connected_gene': 'NDUFA6', 'score': 5.81}, {'connected_gene': 'TEF', 'score': 5.48}, {'connected_gene': 'CHADL', 'score': 4.9}, {'connected_gene': 'TOB2', 'score': 4.85}, {'connected_gene': 'ZC3H7B', 'score': 4.4}, {'connected_gene': 'CSDC2', 'score': 4.3}, {'connected_gene': 'XPNPEP3', 'score': 4.11}, {'connected_gene': 'ACO2', 'score': 1.28}, {'connected_gene': 'CCDC134', 'score': 1.06}, {'connected_gene': 'PIR55540', 'score': 0.39}, {'connected_gene': 'GC22P041361', 'score': 0.23}]
chr22	GH22I041429	41429031	41438090	0.7	[{'connected_gene': 'GC22M042404', 'score': 550.77}, {'connected_gene': 'PIR56580', 'score': 550.77}, {'connected_gene': 'MEI1', 'score': 20.07}, {'connected_gene': 'POLR3H', 'score': 16.38}, {'connected_gene': 'CSDC2', 'score': 15.67}, {'connected_gene': 'DESI1', 'score': 10.51}, {'connected_gene': 'CYP2D6', 'score': 5.55}, {'connected_gene': 'SMDT1', 'score': 3.89}, {'connected_gene': 'ENSG00000273424', 'score': 0.77}, {'connected_gene': 'PIR52836', 'score': 0.77}, {'connected_gene': 'GC22M042468', 'score': 0.77}, {'connected_gene': 'TOB2', 'score': 0.39}]
chr22	GH22I041440	41440386	41441636	0.31	[{'connected_gene': 'GC22P041443', 'score': 550.77}, {'connected_gene': 'MEI1', 'score': 20.08}, {'connected_gene': 'POLR3H', 'score': 15.95}, {'connected_gene': 'CSDC2', 'score': 4.32}, {'connected_gene': 'PIR52836', 'score': 0.77}, {'connected_gene': 'TOB2', 'score': 0.44}]