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
ENST00000402061	[[42196682, 42196770], [42204878, 42204997], [42205882, 42206004], [42221701, 42221897]]	[[42204894, 42204997], [42205882, 42206004], [42221701, 42221827]]
ENST00000255784	[[42196682, 42196770], [42204878, 42204997], [42205882, 42206004], [42206210, 42206295], [42209267, 42209449], [42209754, 42209826], [42221701, 42222303]]	[[42204894, 42204997], [42205882, 42206004], [42206210, 42206295], [42209267, 42209449], [42209754, 42209826], [42221701, 42221827]]
NM_001304797	[[42196625, 42196770], [42204878, 42204997], [42205882, 42206004], [42221701, 42222303]]	[[42204894, 42204997], [42205882, 42206004], [42221701, 42221827]]
NM_024821	[[42196625, 42196770], [42204878, 42204997], [42205882, 42206004], [42206210, 42206295], [42209267, 42209449], [42209754, 42209826], [42221701, 42222303]]	[[42204894, 42204997], [42205882, 42206004], [42206210, 42206295], [42209267, 42209449], [42209754, 42209826], [42221701, 42221827]]

Promoter

Chrom	Start	End	Description
chr22	42196621	42196665	CAGE_peak_2_at_CCDC134_5end
chr22	42196666	42196699	CAGE_peak_1_at_CCDC134_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr22	GH22I041799	41799136	41802518	2.01	[{'connected_gene': 'CCDC134', 'score': 550.77}, {'connected_gene': 'MEI1', 'score': 22.84}, {'connected_gene': 'DESI1', 'score': 14.08}, {'connected_gene': 'PHF5A', 'score': 12.81}, {'connected_gene': 'L3MBTL2', 'score': 12.22}, {'connected_gene': 'POLDIP3', 'score': 11.81}, {'connected_gene': 'EP300', 'score': 11.3}, {'connected_gene': 'RRP7BP', 'score': 11.06}, {'connected_gene': 'NAGA', 'score': 10.6}, {'connected_gene': 'ZC3H7B', 'score': 10.11}, {'connected_gene': 'ENSG00000232754', 'score': 9.9}, {'connected_gene': 'CSDC2', 'score': 8.67}, {'connected_gene': 'NDUFA6', 'score': 5.96}, {'connected_gene': 'GC22P041812', 'score': 0.44}, {'connected_gene': 'PIR56426', 'score': 0.44}]
chr22	GH22I041831	41831085	41835318	2.31	[{'connected_gene': 'SREBF2', 'score': 550.77}, {'connected_gene': 'PIR61729', 'score': 550.77}, {'connected_gene': 'PIR59506', 'score': 550.77}, {'connected_gene': 'PIR58030', 'score': 550.77}, {'connected_gene': 'PIR43611', 'score': 550.77}, {'connected_gene': 'PIR56266', 'score': 550.77}, {'connected_gene': 'PIR61109', 'score': 550.77}, {'connected_gene': 'GC22M042514', 'score': 550.77}, {'connected_gene': 'ENSG00000184068', 'score': 550.77}, {'connected_gene': 'CYP2D8P', 'score': 15.8}, {'connected_gene': 'MEI1', 'score': 14.85}, {'connected_gene': 'L3MBTL2', 'score': 14.51}, {'connected_gene': 'NDUFA6-AS1', 'score': 14.16}, {'connected_gene': 'CSDC2', 'score': 13.7}, {'connected_gene': 'CYP2D6', 'score': 13.06}, {'connected_gene': 'DESI1', 'score': 11.92}, {'connected_gene': 'RNU6ATAC22P', 'score': 11.0}, {'connected_gene': 'ZC3H7B', 'score': 9.8}, {'connected_gene': 'OGFRP1', 'score': 6.32}, {'connected_gene': 'CCDC134', 'score': 0.29}]
chr22	GH22I041681	41681199	41683594	1.94	[{'connected_gene': 'SNU13', 'score': 550.44}, {'connected_gene': 'MEI1', 'score': 22.59}, {'connected_gene': 'RN7SKP80', 'score': 15.61}, {'connected_gene': 'SLC25A17', 'score': 14.23}, {'connected_gene': 'POLDIP3', 'score': 13.23}, {'connected_gene': 'RRP7BP', 'score': 11.86}, {'connected_gene': 'EP300', 'score': 11.23}, {'connected_gene': 'PHF5A', 'score': 11.12}, {'connected_gene': 'L3MBTL2', 'score': 10.91}, {'connected_gene': 'CCDC134', 'score': 7.88}, {'connected_gene': 'RNU6-476P', 'score': 0.77}, {'connected_gene': 'C22orf46', 'score': 0.44}]
chr22	GH22I042088	42088743	42091817	2.32	[{'connected_gene': 'NDUFA6', 'score': 601.98}, {'connected_gene': 'NDUFA6-AS1', 'score': 555.03}, {'connected_gene': 'ENSG00000270083', 'score': 550.77}, {'connected_gene': 'SMDT1', 'score': 72.98}, {'connected_gene': 'CYP2D6', 'score': 53.25}, {'connected_gene': 'PHF5A', 'score': 12.78}, {'connected_gene': 'POLDIP3', 'score': 11.82}, {'connected_gene': 'EP300', 'score': 11.29}, {'connected_gene': 'NAGA', 'score': 10.9}, {'connected_gene': 'ENSG00000232754', 'score': 9.9}, {'connected_gene': 'NFAM1', 'score': 2.52}, {'connected_gene': 'CENPM', 'score': 1.84}, {'connected_gene': 'CCDC134', 'score': 1.54}]
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	GH22I041538	41538572	41539083	0.31	[{'connected_gene': 'POLR3H', 'score': 23.85}, {'connected_gene': 'CCDC134', 'score': 6.73}, {'connected_gene': 'PIR61091', 'score': 0.44}, {'connected_gene': 'GC22M042300', 'score': 0.44}, {'connected_gene': 'GC22M042641', 'score': 0.29}]
chr22	GH22I041419	41419343	41420107	0.38	[{'connected_gene': 'MEI1', 'score': 16.93}, {'connected_gene': 'CCDC134', 'score': 10.25}, {'connected_gene': 'DESI1', 'score': 9.54}, {'connected_gene': 'NDUFA6', 'score': 9.38}, {'connected_gene': 'GC22P041413', 'score': 0.44}, {'connected_gene': 'ENSG00000273424', 'score': 0.39}, {'connected_gene': 'GC22P041361', 'score': 0.22}]
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	GH22I041822	41822377	41823486	1.11	[{'connected_gene': 'MEI1', 'score': 15.49}, {'connected_gene': 'RNU6ATAC22P', 'score': 11.01}, {'connected_gene': 'SMDT1', 'score': 8.96}, {'connected_gene': 'PIR35601', 'score': 0.77}, {'connected_gene': 'PIR36580', 'score': 0.44}, {'connected_gene': 'CCDC134', 'score': 0.34}]
chr22	GH22I042176	42176447	42184599	1.3	[{'connected_gene': 'CYP2D6', 'score': 35.01}, {'connected_gene': 'TCF20', 'score': 20.14}, {'connected_gene': 'SMDT1', 'score': 11.53}, {'connected_gene': 'NFAM1', 'score': 11.14}, {'connected_gene': 'NDUFA6', 'score': 10.54}, {'connected_gene': 'NDUFA6-AS1', 'score': 10.54}, {'connected_gene': 'RNU6ATAC22P', 'score': 9.74}, {'connected_gene': 'ENSG00000227370', 'score': 8.09}, {'connected_gene': 'MEI1', 'score': 6.16}, {'connected_gene': 'CENPM', 'score': 4.76}, {'connected_gene': 'CCDC134', 'score': 1.32}, {'connected_gene': 'CYP2D8P', 'score': 0.31}, {'connected_gene': 'PIR32029', 'score': 0.29}]
chr22	GH22I041573	41573459	41574281	0.46	[{'connected_gene': 'GC22M042641', 'score': 550.77}, {'connected_gene': 'CCDC134', 'score': 7.02}, {'connected_gene': 'CSDC2', 'score': 0.39}, {'connected_gene': 'PMM1', 'score': 0.37}]
chr22	GH22I041808	41808557	41808706	0.49	[{'connected_gene': 'PIR56426', 'score': 550.77}, {'connected_gene': 'GC22P041811', 'score': 550.77}, {'connected_gene': 'PIR40036', 'score': 550.77}, {'connected_gene': 'GC22P041812', 'score': 550.77}, {'connected_gene': 'PIR54439', 'score': 550.77}, {'connected_gene': 'GC22M042654', 'score': 0.77}, {'connected_gene': 'CCDC134', 'score': 0.44}]
chr22	GH22I041395	41395219	41395882	0.2	[{'connected_gene': 'PIR38134', 'score': 550.77}, {'connected_gene': 'PIR58640', 'score': 550.77}, {'connected_gene': 'TEF', 'score': 12.41}, {'connected_gene': 'ACO2', 'score': 11.31}, {'connected_gene': 'PHF5A', 'score': 11.31}, {'connected_gene': 'CSDC2', 'score': 10.96}, {'connected_gene': 'CCDC134', 'score': 10.16}, {'connected_gene': 'LOC105373042', 'score': 0.39}, {'connected_gene': 'GC22P041361', 'score': 0.29}]
chr22	GH22I041396	41396469	41397092	0.31	[{'connected_gene': 'PIR38134', 'score': 550.77}, {'connected_gene': 'PIR55540', 'score': 550.77}, {'connected_gene': 'PIR58640', 'score': 550.77}, {'connected_gene': 'PIR50015', 'score': 550.77}, {'connected_gene': 'CSDC2', 'score': 15.15}, {'connected_gene': 'TEF', 'score': 12.41}, {'connected_gene': 'MEI1', 'score': 11.71}, {'connected_gene': 'ACO2', 'score': 11.31}, {'connected_gene': 'PHF5A', 'score': 11.31}, {'connected_gene': 'CCDC134', 'score': 9.85}, {'connected_gene': 'POLR3H', 'score': 4.73}, {'connected_gene': 'GC22P041361', 'score': 0.28}]
chr22	GH22I041807	41807229	41807535	0.2	[{'connected_gene': 'PIR56426', 'score': 550.77}, {'connected_gene': 'GC22P041812', 'score': 550.77}, {'connected_gene': 'MEI1', 'score': 6.68}, {'connected_gene': 'CCDC134', 'score': 0.44}]
chr22	GH22I041813	41813318	41814267	0.2	[{'connected_gene': 'PIR36217', 'score': 550.77}, {'connected_gene': 'PIR36580', 'score': 550.77}, {'connected_gene': 'MEI1', 'score': 23.46}, {'connected_gene': 'NDUFA6', 'score': 5.5}, {'connected_gene': 'PIR35601', 'score': 0.39}, {'connected_gene': 'CCDC134', 'score': 0.39}]
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	GH22I041824	41824933	41829299	0.76	[{'connected_gene': 'PIR35601', 'score': 550.77}, {'connected_gene': 'PIR56458', 'score': 550.77}, {'connected_gene': 'PIR50046', 'score': 550.77}, {'connected_gene': 'GC22P041967', 'score': 550.77}, {'connected_gene': 'GC22P041966', 'score': 550.77}, {'connected_gene': 'PIR57820', 'score': 550.77}, {'connected_gene': 'GC22P041964', 'score': 550.77}, {'connected_gene': 'PIR48589', 'score': 550.77}, {'connected_gene': 'PIR34550', 'score': 550.77}, {'connected_gene': 'PIR61636', 'score': 550.77}, {'connected_gene': 'PIR52411', 'score': 550.77}, {'connected_gene': 'PIR50986', 'score': 550.77}, {'connected_gene': 'PIR39485', 'score': 550.77}, {'connected_gene': 'PIR33152', 'score': 550.77}, {'connected_gene': 'PIR52431', 'score': 550.77}, {'connected_gene': 'PIR44136', 'score': 550.77}, {'connected_gene': 'MEI1', 'score': 15.45}, {'connected_gene': 'CYP2D6', 'score': 14.93}, {'connected_gene': 'RNU6ATAC22P', 'score': 11.01}, {'connected_gene': 'SMDT1', 'score': 5.52}, {'connected_gene': 'GC22P041965', 'score': 0.77}, {'connected_gene': 'PIR52159', 'score': 0.77}, {'connected_gene': 'CCDC134', 'score': 0.31}]
chr22	GH22I041823	41823525	41824418	0.2	[{'connected_gene': 'PIR35601', 'score': 550.77}, {'connected_gene': 'MEI1', 'score': 15.45}, {'connected_gene': 'RNU6ATAC22P', 'score': 11.01}, {'connected_gene': 'PIR36580', 'score': 0.39}, {'connected_gene': 'CCDC134', 'score': 0.34}]
chr22	GH22I041830	41830297	41830600	0.86	[{'connected_gene': 'PIR61729', 'score': 550.77}, {'connected_gene': 'PIR50046', 'score': 550.77}, {'connected_gene': 'GC22P041967', 'score': 550.77}, {'connected_gene': 'PIR59506', 'score': 550.77}, {'connected_gene': 'GC22P041847', 'score': 550.77}, {'connected_gene': 'GC22P041966', 'score': 550.77}, {'connected_gene': 'PIR58030', 'score': 550.77}, {'connected_gene': 'GC22P041965', 'score': 550.77}, {'connected_gene': 'PIR48589', 'score': 550.77}, {'connected_gene': 'PIR56722', 'score': 550.77}, {'connected_gene': 'PIR43611', 'score': 550.77}, {'connected_gene': 'PIR52159', 'score': 550.77}, {'connected_gene': 'PIR56266', 'score': 550.77}, {'connected_gene': 'PIR61109', 'score': 550.77}, {'connected_gene': 'PIR50986', 'score': 550.77}, {'connected_gene': 'PIR39485', 'score': 550.77}, {'connected_gene': 'PIR52431', 'score': 550.77}, {'connected_gene': 'GC22M042514', 'score': 550.77}, {'connected_gene': 'MEI1', 'score': 14.13}, {'connected_gene': 'RNU6ATAC22P', 'score': 11.01}, {'connected_gene': 'CYP2D6', 'score': 10.37}, {'connected_gene': 'CCDC134', 'score': 0.31}]