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
ENST00000367698	[[173872946, 173873203], [173876587, 173876652], [173878689, 173879080], [173879891, 173880029], [173880936, 173881152], [173883690, 173884057], [173886356, 173886516]]	[[173873026, 173873203], [173876587, 173876652], [173878689, 173879080], [173879891, 173880029], [173880936, 173881152], [173883690, 173884057], [173886356, 173886397]]
ENST00000487183	[[173878867, 173879080], [173879891, 173879975], [173880936, 173881152], [173883690, 173883803]]	None
ENST00000494024	[[173881117, 173881152], [173883690, 173884057], [173884155, 173884324], [173886356, 173886454]]	None
NM_000488	[[173872941, 173873203], [173876587, 173876652], [173878689, 173879080], [173879891, 173880029], [173880936, 173881152], [173883690, 173884057], [173886356, 173886516]]	[[173873026, 173873203], [173876587, 173876652], [173878689, 173879080], [173879891, 173880029], [173880936, 173881152], [173883690, 173884057], [173886356, 173886397]]

Promoter

Chrom	Start	End	Description
chr1	173883926	173883967	CAGE_peak_4_at_SERPINC1_5end
chr1	173883981	173883986	CAGE_peak_12_at_SERPINC1_5end
chr1	173886399	173886407	CAGE_peak_8_at_SERPINC1_5end
chr1	173886418	173886457	CAGE_peak_2_at_SERPINC1_5end
chr1	173886458	173886473	CAGE_peak_1_at_SERPINC1_5end
chr1	173886474	173886482	CAGE_peak_5_at_SERPINC1_5end
chr1	173886485	173886488	CAGE_peak_7_at_SERPINC1_5end
chr1	173886491	173886504	CAGE_peak_3_at_SERPINC1_5end
chr1	173886536	173886545	CAGE_peak_6_at_SERPINC1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I174798	174798619	174801360	1.98	[{'connected_gene': 'RABGAP1L', 'score': 569.74}, {'connected_gene': 'SERPINC1', 'score': 13.21}, {'connected_gene': 'RC3H1', 'score': 12.35}, {'connected_gene': 'GC01M174826', 'score': 0.31}, {'connected_gene': 'BANF1P4', 'score': 0.26}]
chr1	GH01I174873	174873803	174878417	2.31	[{'connected_gene': 'RABGAP1L', 'score': 568.87}, {'connected_gene': 'SERPINC1', 'score': 12.36}, {'connected_gene': 'RNU6-307P', 'score': 10.5}, {'connected_gene': 'ENSG00000237249', 'score': 0.37}, {'connected_gene': 'GC01M174850', 'score': 0.31}]
chr1	GH01I174814	174814976	174816177	0.97	[{'connected_gene': 'RABGAP1L', 'score': 19.87}, {'connected_gene': 'SERPINC1', 'score': 13.02}, {'connected_gene': 'GC01M174826', 'score': 0.39}, {'connected_gene': 'BANF1P4', 'score': 0.22}]
chr1	GH01I173861	173861623	173871896	2.14	[{'connected_gene': 'ZBTB37', 'score': 579.4}, {'connected_gene': 'GC01M174036', 'score': 550.77}, {'connected_gene': 'GC01M174029', 'score': 550.77}, {'connected_gene': 'SNORD80', 'score': 550.77}, {'connected_gene': 'SNORD44', 'score': 550.77}, {'connected_gene': 'GC01M174027', 'score': 550.77}, {'connected_gene': 'SNORD77', 'score': 550.77}, {'connected_gene': 'GC01M174033', 'score': 550.77}, {'connected_gene': 'SNORD74', 'score': 550.77}, {'connected_gene': 'GC01M174030', 'score': 550.77}, {'connected_gene': 'GC01M174035', 'score': 550.77}, {'connected_gene': 'GC01M174026', 'score': 550.77}, {'connected_gene': 'SNORD78', 'score': 550.77}, {'connected_gene': 'SNORD76', 'score': 550.77}, {'connected_gene': 'GC01M174034', 'score': 550.77}, {'connected_gene': 'SNORD75', 'score': 550.77}, {'connected_gene': 'GC01M174031', 'score': 550.77}, {'connected_gene': 'GC01M174038', 'score': 550.77}, {'connected_gene': 'SNORD79', 'score': 550.77}, {'connected_gene': 'RC3H1', 'score': 48.37}, {'connected_gene': 'KLHL20', 'score': 34.98}, {'connected_gene': 'DARS2', 'score': 30.46}, {'connected_gene': 'CENPL', 'score': 21.96}, {'connected_gene': 'GAS5', 'score': 20.32}, {'connected_gene': 'GAS5-AS1', 'score': 18.55}, {'connected_gene': 'ANKRD45', 'score': 13.25}, {'connected_gene': 'SERPINC1', 'score': 11.38}, {'connected_gene': 'RNA5SP67', 'score': 11.38}, {'connected_gene': 'LOC101928673', 'score': 10.81}, {'connected_gene': 'RABGAP1L', 'score': 8.16}, {'connected_gene': 'SNORD47', 'score': 0.77}, {'connected_gene': 'SNORD81', 'score': 0.77}, {'connected_gene': 'GC01M174039', 'score': 0.77}, {'connected_gene': 'GC01M174032', 'score': 0.77}, {'connected_gene': 'GC01M174028', 'score': 0.77}, {'connected_gene': 'GC01M174040', 'score': 0.77}, {'connected_gene': 'GC01P173858', 'score': 0.44}]
chr1	GH01I174760	174760926	174762688	0.31	[{'connected_gene': 'SERPINC1', 'score': 12.35}, {'connected_gene': 'RABGAP1L', 'score': 9.62}, {'connected_gene': 'BANF1P4', 'score': 0.77}, {'connected_gene': 'GC01M174826', 'score': 0.2}]
chr1	GH01I174019	174018601	174019000	0.43	[{'connected_gene': 'SERPINC1', 'score': 25.17}, {'connected_gene': 'CENPL', 'score': 23.6}, {'connected_gene': 'RABGAP1L', 'score': 19.08}, {'connected_gene': 'RNA5SP67', 'score': 10.77}, {'connected_gene': 'DARS2', 'score': 10.37}, {'connected_gene': 'RC3H1', 'score': 0.77}, {'connected_gene': 'RC3H1-IT1', 'score': 0.77}]
chr1	GH01I173940	173940602	173940800	0.28	[{'connected_gene': 'SERPINC1', 'score': 28.32}, {'connected_gene': 'ZBTB37', 'score': 12.73}, {'connected_gene': 'GAS5', 'score': 11.09}, {'connected_gene': 'SNORD81', 'score': 11.08}, {'connected_gene': 'KLHL20', 'score': 9.66}, {'connected_gene': 'RC3H1', 'score': 2.05}, {'connected_gene': 'GC01M174041', 'score': 0.77}, {'connected_gene': 'GC01M174042', 'score': 0.31}]
chr1	GH01I173917	173917317	173917376	1.12	[{'connected_gene': 'SERPINC1', 'score': 550.77}, {'connected_gene': 'PIR48592', 'score': 0.37}]
chr1	GH01I173924	173924911	173927275	0.72	[{'connected_gene': 'ANKRD45', 'score': 15.42}, {'connected_gene': 'GAS5', 'score': 15.29}, {'connected_gene': 'SERPINC1', 'score': 14.91}, {'connected_gene': 'ZBTB37', 'score': 11.17}, {'connected_gene': 'SNORD81', 'score': 11.15}, {'connected_gene': 'CENPL', 'score': 10.36}, {'connected_gene': 'DARS2', 'score': 10.36}, {'connected_gene': 'KLHL20', 'score': 9.42}, {'connected_gene': 'RNA5SP67', 'score': 0.44}, {'connected_gene': 'GC01M174041', 'score': 0.39}]
chr1	GH01I173400	173400121	173401271	0.2	[{'connected_gene': 'ANKRD45', 'score': 6.9}, {'connected_gene': 'SERPINC1', 'score': 3.68}, {'connected_gene': 'GC01M173428', 'score': 0.31}, {'connected_gene': 'LOC646870', 'score': 0.28}, {'connected_gene': 'LOC100506023', 'score': 0.18}]
chr1	GH01I174008	174008001	174009799	0.59	[{'connected_gene': 'ANKRD45', 'score': 15.51}, {'connected_gene': 'SERPINC1', 'score': 14.45}, {'connected_gene': 'RC3H1-IT1', 'score': 0.44}, {'connected_gene': 'RC3H1', 'score': 0.39}, {'connected_gene': 'RNA5SP68', 'score': 0.28}, {'connected_gene': 'GC01M174037', 'score': 0.28}]
chr1	GH01I174015	174015055	174015265	0.23	[{'connected_gene': 'RC3H1-IT1', 'score': 550.77}, {'connected_gene': 'ZBTB37', 'score': 13.6}, {'connected_gene': 'SERPINC1', 'score': 12.43}, {'connected_gene': 'GAS5', 'score': 10.51}, {'connected_gene': 'SNORD81', 'score': 10.5}, {'connected_gene': 'RC3H1', 'score': 7.24}, {'connected_gene': 'GPR52', 'score': 1.4}, {'connected_gene': 'GC01M174037', 'score': 0.25}, {'connected_gene': 'RNA5SP68', 'score': 0.25}]
chr1	GH01I174018	174018001	174018400	0.46	[{'connected_gene': 'RC3H1-IT1', 'score': 550.77}, {'connected_gene': 'SERPINC1', 'score': 25.19}, {'connected_gene': 'CENPL', 'score': 23.6}, {'connected_gene': 'DARS2', 'score': 14.78}, {'connected_gene': 'RNA5SP67', 'score': 10.77}, {'connected_gene': 'RC3H1', 'score': 0.77}]
chr1	GH01I174017	174017401	174017600	0.52	[{'connected_gene': 'RC3H1-IT1', 'score': 550.77}, {'connected_gene': 'RNA5SP67', 'score': 10.77}, {'connected_gene': 'SERPINC1', 'score': 10.77}, {'connected_gene': 'CENPL', 'score': 10.37}, {'connected_gene': 'DARS2', 'score': 10.37}, {'connected_gene': 'RC3H1', 'score': 0.77}]
chr1	GH01I172927	172927738	172930047	0.86	[{'connected_gene': 'ENSG00000224228', 'score': 9.99}, {'connected_gene': 'SERPINC1', 'score': 4.03}, {'connected_gene': 'ENSG00000224000', 'score': 0.34}, {'connected_gene': 'TNFSF18', 'score': 0.13}]