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
ENST00000442528	[[45825622, 45826068], [45827360, 45827887], [45832326, 45833109]]	[[45827391, 45827887], [45832326, 45832886]]
ENST00000456334	[[45825622, 45825971], [45827360, 45827887], [45832326, 45834561]]	[[45827391, 45827887], [45832326, 45832886]]
ENST00000526817	[[45825636, 45825971], [45827360, 45827607]]	[[45827391, 45827607]]
ENST00000314134	[[45825956, 45827887], [45832326, 45834566]]	[[45827352, 45827887], [45832326, 45832886]]
ENST00000530471	[[45826699, 45826867], [45827360, 45827887]]	[[45827391, 45827887]]
NM_001145266	[[45825622, 45825971], [45827360, 45827887], [45832326, 45834567]]	[[45827391, 45827887], [45832326, 45832886]]
NM_001145265	[[45825622, 45826068], [45827360, 45827887], [45832326, 45834567]]	[[45827391, 45827887], [45832326, 45832886]]
NM_018389	[[45826640, 45827887], [45832326, 45834567]]	[[45827352, 45827887], [45832326, 45832886]]

Promoter

Chrom	Start	End	Description
chr11	45825616	45825645	CAGE_peak_4_at_SLC35C1_5end
chr11	45825896	45825965	CAGE_peak_2_at_SLC35C1_5end
chr11	45825970	45825987	CAGE_peak_7_at_SLC35C1_5end
chr11	45825996	45826007	CAGE_peak_12_at_SLC35C1_5end
chr11	45826659	45826742	CAGE_peak_1_at_SLC35C1_5end
chr11	45826915	45826926	CAGE_peak_6_at_SLC35C1_5end
chr11	45826933	45826944	CAGE_peak_3_at_SLC35C1_5end
chr11	45827032	45827044	CAGE_peak_8_at_SLC35C1_5end
chr11	45827053	45827083	CAGE_peak_5_at_SLC35C1_5end
chr11	45827086	45827107	CAGE_peak_11_at_SLC35C1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I045861	45861618	45862451	0.38	[{'connected_gene': 'MAPK8IP1', 'score': 17.45}, {'connected_gene': 'ENSG00000255498', 'score': 11.42}, {'connected_gene': 'C11orf94', 'score': 11.4}, {'connected_gene': 'LARGE2', 'score': 11.38}, {'connected_gene': 'PEX16', 'score': 11.38}, {'connected_gene': 'SLC35C1', 'score': 7.57}, {'connected_gene': 'CRY2', 'score': 0.39}]
chr11	GH11I045854	45854992	45861211	1.14	[{'connected_gene': 'MAPK8IP1', 'score': 29.27}, {'connected_gene': 'ENSG00000255498', 'score': 11.57}, {'connected_gene': 'C11orf94', 'score': 11.57}, {'connected_gene': 'LARGE2', 'score': 11.54}, {'connected_gene': 'PEX16', 'score': 11.54}, {'connected_gene': 'DKFZp779M0652', 'score': 11.47}, {'connected_gene': 'SLC35C1', 'score': 7.83}, {'connected_gene': 'CRY2', 'score': 0.39}]
chr11	GH11I045868	45868892	45869957	0.2	[{'connected_gene': 'MAPK8IP1', 'score': 15.68}, {'connected_gene': 'CRY2', 'score': 11.78}, {'connected_gene': 'SLC35C1', 'score': 8.09}]
chr11	GH11I045872	45872059	45873781	1.03	[{'connected_gene': 'MAPK8IP1', 'score': 19.03}, {'connected_gene': 'CRY2', 'score': 12.18}, {'connected_gene': 'SLC35C1', 'score': 5.03}]
chr11	GH11I045798	45798674	45799738	0.8	[{'connected_gene': 'AMBRA1', 'score': 19.34}, {'connected_gene': 'LOC101928812', 'score': 16.89}, {'connected_gene': 'ZNF408', 'score': 11.98}, {'connected_gene': 'MDK', 'score': 10.76}, {'connected_gene': 'SLC35C1', 'score': 9.13}, {'connected_gene': 'DKFZp779M0652', 'score': 0.31}]
chr11	GH11I045895	45895757	45897671	0.87	[{'connected_gene': 'SLC35C1', 'score': 5.58}, {'connected_gene': 'ENSG00000255498', 'score': 0.44}, {'connected_gene': 'MAPK8IP1', 'score': 0.39}]
chr11	GH11I046209	46209997	46210704	0.99	[{'connected_gene': 'SLC35C1', 'score': 5.29}, {'connected_gene': 'C11orf49', 'score': 4.08}, {'connected_gene': 'LOC105376662', 'score': 0.39}, {'connected_gene': 'LOC401679', 'score': 0.2}]
chr11	GH11I045832	45832742	45833202	0.57	[{'connected_gene': 'SLC35C1', 'score': 12.75}, {'connected_gene': 'DKFZp779M0652', 'score': 6.96}, {'connected_gene': 'CRY2', 'score': 0.39}, {'connected_gene': 'ENSG00000255447', 'score': 0.37}]
chr11	GH11I045801	45801500	45803228	0.72	[{'connected_gene': 'SLC35C1', 'score': 550.77}, {'connected_gene': 'DKFZp779M0652', 'score': 6.13}]
chr11	GH11I045803	45803703	45806716	2.01	[{'connected_gene': 'SLC35C1', 'score': 562.77}, {'connected_gene': 'DKFZp779M0652', 'score': 10.05}, {'connected_gene': 'ENSG00000255447', 'score': 0.44}]
chr11	GH11I045771	45771070	45772699	1.43	[{'connected_gene': 'DKFZp779M0652', 'score': 568.82}, {'connected_gene': 'SLC35C1', 'score': 7.74}, {'connected_gene': 'CHST1', 'score': 6.02}, {'connected_gene': 'GC11P045681', 'score': 0.16}]
chr11	GH11I045846	45846163	45849359	2.26	[{'connected_gene': 'CRY2', 'score': 550.77}, {'connected_gene': 'MAPK8IP1', 'score': 17.41}, {'connected_gene': 'SLC35C1', 'score': 5.86}]
chr11	GH11I045944	45944528	45946769	0.43	[{'connected_gene': 'LARGE2', 'score': 12.55}, {'connected_gene': 'PEX16', 'score': 12.52}, {'connected_gene': 'ENSG00000255498', 'score': 12.49}, {'connected_gene': 'C11orf94', 'score': 12.49}, {'connected_gene': 'SLC35C1', 'score': 6.1}, {'connected_gene': 'PHF21A', 'score': 0.1}, {'connected_gene': 'ENSG00000254653', 'score': 0.09}]
chr11	GH11I045928	45928382	45934000	1.63	[{'connected_gene': 'LARGE2', 'score': 10.06}, {'connected_gene': 'SLC35C1', 'score': 5.02}, {'connected_gene': 'ENSG00000254653', 'score': 0.09}, {'connected_gene': 'PHF21A', 'score': 0.08}]
chr11	GH11I045735	45735625	45737536	0.74	[{'connected_gene': 'PIR52010', 'score': 550.77}, {'connected_gene': 'ENSG00000255426', 'score': 550.77}, {'connected_gene': 'PIR58267', 'score': 550.77}, {'connected_gene': 'CHST1', 'score': 16.86}, {'connected_gene': 'ENSG00000255091', 'score': 10.82}, {'connected_gene': 'SLC35C1', 'score': 6.24}, {'connected_gene': 'ATG13', 'score': 4.32}, {'connected_gene': 'PIR52408', 'score': 0.44}, {'connected_gene': 'LOC100507384', 'score': 0.39}, {'connected_gene': 'GC11P045681', 'score': 0.22}, {'connected_gene': 'PIRC51', 'score': 0.18}]
chr11	GH11I045754	45754230	45756289	0.54	[{'connected_gene': 'GC11P045876', 'score': 550.77}, {'connected_gene': 'DKFZp779M0652', 'score': 15.78}, {'connected_gene': 'SLC35C1', 'score': 5.77}, {'connected_gene': 'LOC105376658', 'score': 0.77}, {'connected_gene': 'GC11P045681', 'score': 0.19}]
chr11	GH11I046241	46241106	46245001	1.82	[{'connected_gene': 'GC11P046245', 'score': 550.77}, {'connected_gene': 'ENSG00000270060', 'score': 62.82}, {'connected_gene': 'DDB2', 'score': 51.43}, {'connected_gene': 'ZNF408', 'score': 41.17}, {'connected_gene': 'RPS10P19', 'score': 31.29}, {'connected_gene': 'AMBRA1', 'score': 29.42}, {'connected_gene': 'LOC101928812', 'score': 29.05}, {'connected_gene': 'MDK', 'score': 20.97}, {'connected_gene': 'CREB3L1', 'score': 12.3}, {'connected_gene': 'LINC02489', 'score': 12.3}, {'connected_gene': 'MAPK8IP1', 'score': 10.88}, {'connected_gene': 'ARFGAP2', 'score': 10.32}, {'connected_gene': 'LRP4-AS1', 'score': 9.76}, {'connected_gene': 'ATG13', 'score': 4.91}, {'connected_gene': 'SLC35C1', 'score': 4.35}, {'connected_gene': 'LRP4', 'score': 3.66}, {'connected_gene': 'ENSG00000254639', 'score': 0.77}]
chr11	GH11I045905	45905710	45908581	1.19	[{'connected_gene': 'ENSG00000255498', 'score': 550.77}, {'connected_gene': 'C11orf94', 'score': 550.77}, {'connected_gene': 'SLC35C1', 'score': 4.3}, {'connected_gene': 'MAPK8IP1', 'score': 0.34}]
chr11	GH11I046236	46236007	46240664	2.12	[{'connected_gene': 'ENSG00000254639', 'score': 550.77}, {'connected_gene': 'ENSG00000270060', 'score': 17.33}, {'connected_gene': 'RPS10P19', 'score': 11.88}, {'connected_gene': 'DDB2', 'score': 11.76}, {'connected_gene': 'CREB3L1', 'score': 11.76}, {'connected_gene': 'LINC02489', 'score': 11.76}, {'connected_gene': 'ZNF408', 'score': 10.01}, {'connected_gene': 'LARGE2', 'score': 6.16}, {'connected_gene': 'DGKZ', 'score': 4.25}, {'connected_gene': 'SLC35C1', 'score': 4.19}, {'connected_gene': 'ATG13', 'score': 4.17}, {'connected_gene': 'LOC105376662', 'score': 0.37}]