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
ENST00000540656	[[6802957, 6804223], [6804595, 6804817], [6805608, 6805690], [6806452, 6806958], [6807210, 6807270], [6809300, 6809596]]	[[6804201, 6804223], [6804595, 6804817], [6805608, 6805690], [6806452, 6806958], [6807210, 6807227]]
ENST00000534837	[[6802957, 6804817], [6805608, 6805690], [6806452, 6806958], [6807210, 6807270], [6809779, 6809966]]	[[6804591, 6804817], [6805608, 6805690], [6806452, 6806958], [6807210, 6807227]]
ENST00000320591	[[6802957, 6804223], [6804595, 6804817], [6805608, 6805690], [6806452, 6806958], [6807210, 6807270], [6809779, 6809966]]	[[6804201, 6804223], [6804595, 6804817], [6805608, 6805690], [6806452, 6806958], [6807210, 6807227]]
ENST00000545917	[[6806460, 6806958], [6807210, 6807270], [6809099, 6809155]]	[[6806460, 6806958], [6807210, 6807227]]
ENST00000542740	[[6806643, 6806958], [6807210, 6807472]]	[[6806643, 6806958], [6807210, 6807227]]
ENST00000536467	[[6806745, 6806958], [6807210, 6807270], [6807622, 6807639]]	[[6806745, 6806958], [6807210, 6807227]]
NM_001244015	[[6802956, 6804223], [6804595, 6804817], [6805608, 6805690], [6806452, 6806958], [6807210, 6807270], [6809300, 6809596]]	[[6804201, 6804223], [6804595, 6804817], [6805608, 6805690], [6806452, 6806958], [6807210, 6807227]]
NM_001244014	[[6802956, 6804817], [6805608, 6805690], [6806452, 6806958], [6807210, 6807270], [6809779, 6810009]]	[[6804591, 6804817], [6805608, 6805690], [6806452, 6806958], [6807210, 6807227]]
NM_153685	[[6802956, 6804223], [6804595, 6804817], [6805608, 6805690], [6806452, 6806958], [6807210, 6807270], [6809779, 6810009]]	[[6804201, 6804223], [6804595, 6804817], [6805608, 6805690], [6806452, 6806958], [6807210, 6807227]]

Promoter

Chrom	Start	End	Description
chr12	6804093	6804118	CAGE_peak_7_at_C12orf53_5end
chr12	6804456	6804460	CAGE_peak_13_at_C12orf53_5end
chr12	6809498	6809509	CAGE_peak_16_at_C12orf53_5end
chr12	6809543	6809596	CAGE_peak_4_at_C12orf53_5end
chr12	6809805	6809814	CAGE_peak_11_at_C12orf53_5end
chr12	6809819	6809830	CAGE_peak_6_at_C12orf53_5end
chr12	6809877	6809887	CAGE_peak_5_at_C12orf53_5end
chr12	6809890	6809929	CAGE_peak_3_at_C12orf53_5end
chr12	6809942	6809947	CAGE_peak_8_at_C12orf53_5end
chr12	6809958	6809996	CAGE_peak_1_at_C12orf53_5end
chr12	6809997	6810025	CAGE_peak_2_at_C12orf53_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I006213	6213114	6236473	1.75	[{'connected_gene': 'CD9', 'score': 18.72}, {'connected_gene': 'PLEKHG6', 'score': 10.45}, {'connected_gene': 'VWF', 'score': 10.33}, {'connected_gene': 'LPAR5', 'score': 6.91}, {'connected_gene': 'PIANP', 'score': 5.81}, {'connected_gene': 'ING4', 'score': 4.51}, {'connected_gene': 'TAPBPL', 'score': 2.16}, {'connected_gene': 'VAMP1', 'score': 1.98}, {'connected_gene': 'SCNN1A', 'score': 1.82}, {'connected_gene': 'IFFO1', 'score': 1.46}, {'connected_gene': 'ENSG00000202318', 'score': 0.44}, {'connected_gene': 'GC12M006235', 'score': 0.44}]
chr12	GH12I006788	6788596	6793556	2.34	[{'connected_gene': 'CD4', 'score': 571.4}, {'connected_gene': 'LPAR5', 'score': 12.8}, {'connected_gene': 'GPR162', 'score': 12.29}, {'connected_gene': 'P3H3', 'score': 12.27}, {'connected_gene': 'PTPN6', 'score': 11.88}, {'connected_gene': 'ING4', 'score': 11.75}, {'connected_gene': 'PTMS', 'score': 11.52}, {'connected_gene': 'MLF2', 'score': 11.29}, {'connected_gene': 'GNB3', 'score': 11.18}, {'connected_gene': 'PIANP', 'score': 11.11}, {'connected_gene': 'USP5', 'score': 10.97}, {'connected_gene': 'CDCA3', 'score': 10.97}, {'connected_gene': 'ATN1', 'score': 10.68}, {'connected_gene': 'ENSG00000219410', 'score': 10.68}, {'connected_gene': 'ACRBP', 'score': 10.66}, {'connected_gene': 'TPI1', 'score': 10.32}, {'connected_gene': 'LRRC23', 'score': 10.31}, {'connected_gene': 'RPL13P5', 'score': 10.31}, {'connected_gene': 'SPSB2', 'score': 10.29}, {'connected_gene': 'GAPDH', 'score': 5.06}, {'connected_gene': 'CD27', 'score': 3.94}, {'connected_gene': 'TAPBPL', 'score': 3.76}, {'connected_gene': 'IFFO1', 'score': 2.62}, {'connected_gene': 'ZNF384', 'score': 2.38}, {'connected_gene': 'CHD4', 'score': 1.34}]
chr12	GH12I006784	6784248	6787581	0.97	[{'connected_gene': 'CD4', 'score': 566.93}, {'connected_gene': 'RN7SL380P', 'score': 550.77}, {'connected_gene': 'GPR162', 'score': 12.42}, {'connected_gene': 'P3H3', 'score': 12.41}, {'connected_gene': 'ZNF384', 'score': 10.95}, {'connected_gene': 'ENSG00000219410', 'score': 10.6}, {'connected_gene': 'ING4', 'score': 10.6}, {'connected_gene': 'ACRBP', 'score': 10.6}, {'connected_gene': 'PIANP', 'score': 10.54}, {'connected_gene': 'LPAR5', 'score': 10.4}, {'connected_gene': 'ENSG00000255966', 'score': 9.76}, {'connected_gene': 'GAPDH', 'score': 9.76}]
chr12	GH12I006762	6762790	6770018	2.61	[{'connected_gene': 'MLF2', 'score': 557.43}, {'connected_gene': 'PTMS', 'score': 552.92}, {'connected_gene': 'ENSG00000219410', 'score': 31.26}, {'connected_gene': 'ZNF384', 'score': 30.44}, {'connected_gene': 'CHD4', 'score': 28.54}, {'connected_gene': 'NCAPD2', 'score': 25.5}, {'connected_gene': 'EMG1', 'score': 21.1}, {'connected_gene': 'ENSG00000247853', 'score': 16.43}, {'connected_gene': 'PTPN6', 'score': 15.97}, {'connected_gene': 'SPSB2', 'score': 14.0}, {'connected_gene': 'GDF3', 'score': 11.46}, {'connected_gene': 'TNFRSF1A', 'score': 11.03}, {'connected_gene': 'C12orf57', 'score': 10.83}, {'connected_gene': 'C1RL-AS1', 'score': 10.71}, {'connected_gene': 'ENSG00000256967', 'score': 10.49}, {'connected_gene': 'PHB2', 'score': 10.44}, {'connected_gene': 'SCARNA12', 'score': 10.2}, {'connected_gene': 'P3H3', 'score': 10.16}, {'connected_gene': 'NOP2', 'score': 10.13}, {'connected_gene': 'LTBR', 'score': 10.02}, {'connected_gene': 'C1S', 'score': 9.84}, {'connected_gene': 'ENSG00000269892', 'score': 6.4}, {'connected_gene': 'COPS7A', 'score': 5.73}, {'connected_gene': 'ATN1', 'score': 2.51}, {'connected_gene': 'ENO2', 'score': 2.4}, {'connected_gene': 'PIANP', 'score': 2.05}, {'connected_gene': 'GPR162', 'score': 1.91}, {'connected_gene': 'CLSTN3', 'score': 1.27}]
chr12	GH12I006777	6777536	6780423	1.46	[{'connected_gene': 'GPR162', 'score': 12.41}, {'connected_gene': 'P3H3', 'score': 12.39}, {'connected_gene': 'EMG1', 'score': 11.33}, {'connected_gene': 'ZNF384', 'score': 10.96}, {'connected_gene': 'ENSG00000219410', 'score': 10.82}, {'connected_gene': 'ING4', 'score': 10.82}, {'connected_gene': 'PIANP', 'score': 10.8}, {'connected_gene': 'NOP2', 'score': 10.75}, {'connected_gene': 'ACRBP', 'score': 10.65}, {'connected_gene': 'LPAR5', 'score': 10.65}, {'connected_gene': 'NCAPD2', 'score': 10.17}, {'connected_gene': 'ENSG00000255966', 'score': 9.76}, {'connected_gene': 'GAPDH', 'score': 9.76}, {'connected_gene': 'GC12M006781', 'score': 0.77}, {'connected_gene': 'LAG3', 'score': 0.44}]
chr12	GH12I006546	6546780	6557050	2.5	[{'connected_gene': 'IFFO1', 'score': 560.93}, {'connected_gene': 'CHD4', 'score': 26.4}, {'connected_gene': 'ENSG00000247853', 'score': 24.58}, {'connected_gene': 'ENSG00000219410', 'score': 23.86}, {'connected_gene': 'TAPBPL', 'score': 21.56}, {'connected_gene': 'ATN1', 'score': 19.18}, {'connected_gene': 'VAMP1', 'score': 16.76}, {'connected_gene': 'ZNF384', 'score': 15.38}, {'connected_gene': 'SCARNA11', 'score': 12.04}, {'connected_gene': 'SCARNA10', 'score': 11.49}, {'connected_gene': 'NCAPD2', 'score': 11.45}, {'connected_gene': 'NOP2', 'score': 10.48}, {'connected_gene': 'EMG1', 'score': 10.46}, {'connected_gene': 'ACRBP', 'score': 10.41}, {'connected_gene': 'ING4', 'score': 10.39}, {'connected_gene': 'P3H3', 'score': 10.16}, {'connected_gene': 'SCARNA12', 'score': 9.91}, {'connected_gene': 'LPAR5', 'score': 9.84}, {'connected_gene': 'GPR162', 'score': 2.67}, {'connected_gene': 'PIANP', 'score': 2.13}, {'connected_gene': 'ENO2', 'score': 1.16}, {'connected_gene': 'ENSG00000245667', 'score': 0.44}]
chr12	GH12I006699	6699865	6701359	1.8	[{'connected_gene': 'PIANP', 'score': 550.77}, {'connected_gene': 'VAMP1', 'score': 5.1}, {'connected_gene': 'MRPL51', 'score': 4.94}, {'connected_gene': 'ZNF384', 'score': 0.39}]
chr12	GH12I006697	6697435	6698192	0.62	[{'connected_gene': 'PIANP', 'score': 0.77}, {'connected_gene': 'ZNF384', 'score': 0.44}]
chr12	GH12I006610	6610796	6616199	1.73	[{'connected_gene': 'LOC105369631', 'score': 550.77}, {'connected_gene': 'ZNF384', 'score': 21.61}, {'connected_gene': 'ENSG00000219410', 'score': 20.61}, {'connected_gene': 'ENSG00000247853', 'score': 16.64}, {'connected_gene': 'CHD4', 'score': 15.98}, {'connected_gene': 'NCAPD2', 'score': 15.82}, {'connected_gene': 'SPSB2', 'score': 13.94}, {'connected_gene': 'LOC100419928', 'score': 12.69}, {'connected_gene': 'TNFRSF1A', 'score': 11.04}, {'connected_gene': 'EMG1', 'score': 10.91}, {'connected_gene': 'C1RL-AS1', 'score': 10.7}, {'connected_gene': 'ENSG00000256967', 'score': 10.46}, {'connected_gene': 'NOP2', 'score': 10.31}, {'connected_gene': 'SCARNA12', 'score': 10.17}, {'connected_gene': 'LTBR', 'score': 10.04}, {'connected_gene': 'PIANP', 'score': 2.11}, {'connected_gene': 'GPR162', 'score': 2.1}, {'connected_gene': 'ENO2', 'score': 1.77}]
chr12	GH12I006780	6780545	6781188	0.2	[{'connected_gene': 'GC12M006781', 'score': 550.77}, {'connected_gene': 'GPR162', 'score': 12.41}, {'connected_gene': 'P3H3', 'score': 12.39}, {'connected_gene': 'ZNF384', 'score': 10.95}, {'connected_gene': 'ENSG00000219410', 'score': 10.6}, {'connected_gene': 'ING4', 'score': 10.6}, {'connected_gene': 'ACRBP', 'score': 10.59}, {'connected_gene': 'PIANP', 'score': 10.55}, {'connected_gene': 'LPAR5', 'score': 10.4}, {'connected_gene': 'ENSG00000255966', 'score': 9.76}, {'connected_gene': 'GAPDH', 'score': 9.76}, {'connected_gene': 'LAG3', 'score': 0.44}]
chr12	GH12I006703	6703459	6704158	0.8	[{'connected_gene': 'GC12M006701', 'score': 550.77}, {'connected_gene': 'PIANP', 'score': 0.77}]
chr12	GH12I006643	6643362	6645404	1.11	[{'connected_gene': 'ENSG00000219410', 'score': 18.65}, {'connected_gene': 'ZNF384', 'score': 15.85}, {'connected_gene': 'ENSG00000247853', 'score': 15.4}, {'connected_gene': 'SCARNA12', 'score': 14.27}, {'connected_gene': 'CHD4', 'score': 13.22}, {'connected_gene': 'NOP2', 'score': 12.0}, {'connected_gene': 'LAG3', 'score': 10.27}, {'connected_gene': 'PIANP', 'score': 8.74}, {'connected_gene': 'ACRBP', 'score': 5.64}, {'connected_gene': 'LPAR5', 'score': 0.44}]