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
ENST00000379359	[[42031694, 42031892], [42032420, 42032606], [42040958, 42041066], [42042911, 42042974], [42044613, 42045018]]	[[42031843, 42031892], [42032420, 42032606], [42040958, 42041066], [42042911, 42042974], [42044613, 42044621]]
ENST00000487837	[[42038250, 42038316], [42040958, 42041066], [42042911, 42042980]]	None
NM_014059	[[42031541, 42031892], [42032420, 42032606], [42040958, 42041066], [42042911, 42042974], [42044613, 42045013]]	[[42031843, 42031892], [42032420, 42032606], [42040958, 42041066], [42042911, 42042974], [42044613, 42044621]]

Promoter

Chrom	Start	End	Description
chr13	42031652	42031665	CAGE_peak_2_at_C13orf15_5end
chr13	42031679	42031696	CAGE_peak_1_at_C13orf15_5end
chr13	42037742	42037760	CAGE_peak_5_at_C13orf15_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I040972	40972154	40987294	2.6	[{'connected_gene': 'ELF1', 'score': 569.8}, {'connected_gene': 'WBP4', 'score': 12.04}, {'connected_gene': 'CYCSP34', 'score': 8.92}, {'connected_gene': 'SUGT1P3', 'score': 4.78}, {'connected_gene': 'RGCC', 'score': 3.56}, {'connected_gene': 'NAA16', 'score': 1.43}, {'connected_gene': 'FOXO1', 'score': 1.4}, {'connected_gene': 'RGS17P1', 'score': 0.39}, {'connected_gene': 'PIR56183', 'score': 0.31}]
chr13	GH13I041014	41014027	41022233	2.48	[{'connected_gene': 'ELF1', 'score': 565.18}, {'connected_gene': 'WBP4', 'score': 25.31}, {'connected_gene': 'SLC25A15', 'score': 4.99}, {'connected_gene': 'RGCC', 'score': 2.69}, {'connected_gene': 'NAA16', 'score': 1.41}, {'connected_gene': 'GC13M041022', 'score': 0.39}, {'connected_gene': 'GC13M041020', 'score': 0.39}, {'connected_gene': 'GC13M041024', 'score': 0.39}, {'connected_gene': 'GC13M041021', 'score': 0.39}, {'connected_gene': 'GC13M041023', 'score': 0.39}, {'connected_gene': 'RGS17P1', 'score': 0.34}]
chr13	GH13I041428	41428002	41428599	0.49	[{'connected_gene': 'NAA16', 'score': 17.79}, {'connected_gene': 'RGCC', 'score': 4.94}, {'connected_gene': 'GC13M041432', 'score': 0.77}, {'connected_gene': 'TUBBP2', 'score': 0.26}]
chr13	GH13I041468	41468041	41468823	0.31	[{'connected_gene': 'MAPK6PS3', 'score': 5.56}, {'connected_gene': 'RGCC', 'score': 0.39}, {'connected_gene': 'GC13P041458', 'score': 0.39}, {'connected_gene': 'GC13P041459', 'score': 0.39}, {'connected_gene': 'LOC105370174', 'score': 0.25}]
chr13	GH13I041456	41456537	41467461	2.19	[{'connected_gene': 'RGCC', 'score': 555.63}, {'connected_gene': 'NAA16', 'score': 17.77}, {'connected_gene': 'TPTE2P5', 'score': 11.75}, {'connected_gene': 'GC13P041458', 'score': 0.77}, {'connected_gene': 'GC13P041459', 'score': 0.77}, {'connected_gene': 'LOC105370174', 'score': 0.22}]
chr13	GH13I041608	41608600	41612080	1.03	[{'connected_gene': 'RGCC', 'score': 16.88}, {'connected_gene': 'OR7E36P', 'score': 4.24}, {'connected_gene': 'GC13M041633', 'score': 0.34}, {'connected_gene': 'PIR52393', 'score': 0.26}, {'connected_gene': 'VWA8', 'score': 0.05}]
chr13	GH13I041644	41644149	41653034	1.57	[{'connected_gene': 'RGCC', 'score': 19.99}, {'connected_gene': 'VWA8', 'score': 15.81}, {'connected_gene': 'NAA16', 'score': 13.6}, {'connected_gene': 'OR7E37P', 'score': 12.27}, {'connected_gene': 'OR7E155P', 'score': 12.27}, {'connected_gene': 'RNU6-57P', 'score': 10.93}, {'connected_gene': 'DGKH', 'score': 10.65}, {'connected_gene': 'ENSG00000231530', 'score': 10.65}, {'connected_gene': 'GC13M041633', 'score': 0.39}, {'connected_gene': 'GC13M041702', 'score': 0.22}]
chr13	GH13I041693	41693532	41697587	1.44	[{'connected_gene': 'RGCC', 'score': 10.59}, {'connected_gene': 'VWA8', 'score': 7.59}, {'connected_gene': 'DGKH', 'score': 3.27}, {'connected_gene': 'GC13M041702', 'score': 0.44}, {'connected_gene': 'GC13M041633', 'score': 0.21}]
chr13	GH13I041560	41560869	41566408	1.09	[{'connected_gene': 'RGCC', 'score': 10.54}, {'connected_gene': 'VWA8', 'score': 8.11}, {'connected_gene': 'MIR5006', 'score': 0.77}, {'connected_gene': 'LOC105370175', 'score': 0.39}, {'connected_gene': 'LOC105370174', 'score': 0.25}]
chr13	GH13I041630	41630748	41633030	0.51	[{'connected_gene': 'RGCC', 'score': 5.66}, {'connected_gene': 'GC13M041633', 'score': 0.77}, {'connected_gene': 'PIR52393', 'score': 0.21}, {'connected_gene': 'VWA8', 'score': 0.05}]
chr13	GH13I041597	41597606	41598236	0.31	[{'connected_gene': 'RGCC', 'score': 9.35}, {'connected_gene': 'PIR52393', 'score': 0.31}, {'connected_gene': 'GC13M041633', 'score': 0.28}, {'connected_gene': 'VWA8', 'score': 0.05}]
chr13	GH13I041576	41576891	41578046	0.85	[{'connected_gene': 'RGCC', 'score': 9.56}, {'connected_gene': 'PIR52393', 'score': 0.44}, {'connected_gene': 'GC13M041633', 'score': 0.22}, {'connected_gene': 'VWA8', 'score': 0.05}]
chr13	GH13I041587	41587899	41591597	1.46	[{'connected_gene': 'RGCC', 'score': 17.96}, {'connected_gene': 'AKAP11', 'score': 15.92}, {'connected_gene': 'VWA8', 'score': 4.2}, {'connected_gene': 'DGKH', 'score': 3.6}, {'connected_gene': 'PIR52393', 'score': 0.34}, {'connected_gene': 'GC13M041633', 'score': 0.26}]
chr13	GH13I041766	41766505	41766654	0.63	[{'connected_gene': 'RGCC', 'score': 4.73}, {'connected_gene': 'RN7SL515P', 'score': 0.26}, {'connected_gene': 'GC13M041702', 'score': 0.21}, {'connected_gene': 'VWA8', 'score': 0.08}]
chr13	GH13I041495	41494242	41494288	0.2	[{'connected_gene': 'RGCC', 'score': 4.55}, {'connected_gene': 'LOC105370174', 'score': 0.34}, {'connected_gene': 'GC13P041458', 'score': 0.28}, {'connected_gene': 'GC13P041459', 'score': 0.28}]
chr13	GH13I041488	41488152	41488835	0.51	[{'connected_gene': 'RGCC', 'score': 6.06}, {'connected_gene': 'LOC105370174', 'score': 0.31}, {'connected_gene': 'GC13P041458', 'score': 0.29}, {'connected_gene': 'GC13P041459', 'score': 0.29}]
chr13	GH13I041491	41491446	41493964	1.27	[{'connected_gene': 'RGCC', 'score': 21.63}, {'connected_gene': 'OR7E37P', 'score': 11.25}, {'connected_gene': 'OR7E155P', 'score': 11.25}, {'connected_gene': 'NAA16', 'score': 3.92}, {'connected_gene': 'ELF1', 'score': 2.58}, {'connected_gene': 'LOC105370174', 'score': 0.34}, {'connected_gene': 'GC13P041458', 'score': 0.28}, {'connected_gene': 'GC13P041459', 'score': 0.28}]
chr13	GH13I041457	41456245	41456394	0.51	[{'connected_gene': 'RGCC', 'score': 550.77}, {'connected_gene': 'GC13P041458', 'score': 550.77}, {'connected_gene': 'GC13P041459', 'score': 550.77}, {'connected_gene': 'OR7E37P', 'score': 0.39}]
chr13	GH13I041972	41972805	41975204	0.85	[{'connected_gene': 'VWA8', 'score': 6.48}, {'connected_gene': 'RGCC', 'score': 4.81}, {'connected_gene': 'GC13P041978', 'score': 0.77}, {'connected_gene': 'VWA8-AS1', 'score': 0.37}, {'connected_gene': 'LOC105370176', 'score': 0.28}]
chr13	GH13I041654	41654524	41655467	0.43	[{'connected_gene': 'DGKH', 'score': 10.65}, {'connected_gene': 'ENSG00000231530', 'score': 10.65}, {'connected_gene': 'VWA8', 'score': 9.69}, {'connected_gene': 'RGCC', 'score': 3.75}, {'connected_gene': 'NAA16', 'score': 2.32}, {'connected_gene': 'GC13M041633', 'score': 0.34}, {'connected_gene': 'GC13M041702', 'score': 0.23}]
chr13	GH13I041049	41049406	41050956	1.07	[{'connected_gene': 'WBP4', 'score': 14.84}, {'connected_gene': 'ELF1', 'score': 7.84}, {'connected_gene': 'RGCC', 'score': 4.71}, {'connected_gene': 'NAA16', 'score': 1.12}, {'connected_gene': 'TRE-TTC1-2', 'score': 0.39}, {'connected_gene': 'GC13M041020', 'score': 0.34}, {'connected_gene': 'GC13M041024', 'score': 0.34}]
chr13	GH13I041052	41052420	41055573	1.53	[{'connected_gene': 'WBP4', 'score': 9.7}, {'connected_gene': 'ELF1', 'score': 6.89}, {'connected_gene': 'RGCC', 'score': 5.06}, {'connected_gene': 'CYCSP34', 'score': 4.83}, {'connected_gene': 'NAA16', 'score': 1.53}, {'connected_gene': 'TRE-TTC1-2', 'score': 0.44}, {'connected_gene': 'GC13M041020', 'score': 0.34}, {'connected_gene': 'GC13M041024', 'score': 0.34}]
chr13	GH13I041848	41848361	41848584	0.44	[{'connected_gene': 'RNU6-74P', 'score': 10.49}, {'connected_gene': 'RGCC', 'score': 3.11}, {'connected_gene': 'DGKH', 'score': 2.97}, {'connected_gene': 'RN7SL515P', 'score': 0.26}, {'connected_gene': 'GC13P041900', 'score': 0.23}, {'connected_gene': 'VWA8', 'score': 0.14}]
chr13	GH13I042147	42147323	42147690	0.35	[{'connected_gene': 'RNU6-74P', 'score': 10.12}, {'connected_gene': 'RGCC', 'score': 4.22}, {'connected_gene': 'GC13M042182', 'score': 0.29}, {'connected_gene': 'GC13M042088', 'score': 0.26}, {'connected_gene': 'DGKH', 'score': 0.14}]
chr13	GH13I041122	41122801	41123186	0.33	[{'connected_gene': 'RN7SL597P', 'score': 550.77}, {'connected_gene': 'NAA16', 'score': 6.77}, {'connected_gene': 'MTRF1', 'score': 3.31}, {'connected_gene': 'FOXO1', 'score': 3.05}, {'connected_gene': 'RGCC', 'score': 2.75}, {'connected_gene': 'ELF1', 'score': 1.83}, {'connected_gene': 'KBTBD6', 'score': 0.44}]
chr13	GH13I041354	41354893	41358201	0.97	[{'connected_gene': 'RNU6-57P', 'score': 550.77}, {'connected_gene': 'NAA16', 'score': 12.61}, {'connected_gene': 'RGCC', 'score': 7.5}, {'connected_gene': 'MTRF1', 'score': 3.43}, {'connected_gene': 'ELF1', 'score': 3.26}, {'connected_gene': 'TUBBP2', 'score': 0.31}]
chr13	GH13I041637	41637649	41639072	0.4	[{'connected_gene': 'RNU6-57P', 'score': 10.67}, {'connected_gene': 'NAA16', 'score': 10.66}, {'connected_gene': 'VWA8', 'score': 6.37}, {'connected_gene': 'RGCC', 'score': 5.65}, {'connected_gene': 'GC13M041633', 'score': 0.77}, {'connected_gene': 'GC13M041702', 'score': 0.2}]
chr13	GH13I041469	41469261	41472697	0.31	[{'connected_gene': 'OR7E37P', 'score': 13.2}, {'connected_gene': 'OR7E155P', 'score': 13.18}, {'connected_gene': 'RGCC', 'score': 5.56}, {'connected_gene': 'GC13P041458', 'score': 0.39}, {'connected_gene': 'GC13P041459', 'score': 0.39}, {'connected_gene': 'LOC105370174', 'score': 0.25}]