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
ENST00000467499	[[98997587, 98997852], [99002104, 99002186]]	None
ENST00000494814	[[98997587, 98997852], [99003039, 99003189], [99006572, 99006676], [99007626, 99007708], [99012032, 99012068], [99012191, 99012200]]	None
ENST00000464104	[[98997587, 98997852], [99003039, 99003189], [99006610, 99006676], [99007626, 99007708], [99008837, 99008872], [99012032, 99012068], [99012191, 99012334], [99012589, 99012752]]	None
ENST00000375263	[[98997587, 98997852], [99003039, 99003189], [99006610, 99006676], [99007626, 99007708], [99008837, 99008872], [99012032, 99012068], [99013699, 99013767], [99015084, 99015192], [99017149, 99017225], [99060697, 99060744], [99064232, 99064434]]	[[98997741, 98997852], [99003039, 99003189], [99006610, 99006676], [99007626, 99007708], [99008837, 99008872], [99012032, 99012068], [99013699, 99013767], [99015084, 99015192], [99017149, 99017225], [99060697, 99060744], [99064232, 99064386]]
ENST00000375262	[[98997741, 98997852], [99006610, 99006676], [99007626, 99007708], [99008837, 99008872], [99012032, 99012068], [99013699, 99013767], [99015084, 99015192], [99017149, 99017225], [99060697, 99060744], [99064232, 99064386]]	[[98997741, 98997852], [99006610, 99006676], [99007626, 99007708], [99008837, 99008872], [99012032, 99012068], [99013699, 99013767], [99015084, 99015192], [99017149, 99017225], [99060697, 99060744], [99064232, 99064386]]
ENST00000484816	[[99001608, 99001953], [99003039, 99003189], [99006610, 99006632]]	None
ENST00000463517	[[99012679, 99012767], [99013408, 99013543], [99013699, 99013767], [99015084, 99015192], [99017149, 99017183]]	None
NM_000197	[[98997588, 98997852], [99003039, 99003189], [99006610, 99006676], [99007626, 99007708], [99008837, 99008872], [99012032, 99012068], [99013699, 99013767], [99015084, 99015192], [99017149, 99017225], [99060697, 99060744], [99064232, 99064434]]	[[98997741, 98997852], [99003039, 99003189], [99006610, 99006676], [99007626, 99007708], [99008837, 99008872], [99012032, 99012068], [99013699, 99013767], [99015084, 99015192], [99017149, 99017225], [99060697, 99060744], [99064232, 99064386]]

Promoter

Chrom	Start	End	Description
chr9	99064399	99064410	CAGE_peak_4_at_HSD17B3_5end
chr9	99064429	99064442	CAGE_peak_2_at_HSD17B3_5end
chr9	99064452	99064463	CAGE_peak_1_at_HSD17B3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I096611	96611357	96613154	1.1	[{'connected_gene': 'HSD17B3', 'score': 4.8}, {'connected_gene': 'CDC14B', 'score': 0.44}, {'connected_gene': 'LOC105376163', 'score': 0.39}]
chr9	GH09I096513	96513232	96516496	1.14	[{'connected_gene': 'HSD17B3', 'score': 10.03}, {'connected_gene': 'RNU6-1160P', 'score': 10.02}, {'connected_gene': 'HABP4', 'score': 0.21}, {'connected_gene': 'LOC105376163', 'score': 0.18}, {'connected_gene': 'CDC14B', 'score': 0.15}]
chr9	GH09I096122	96122274	96123224	0.43	[{'connected_gene': 'HSD17B3', 'score': 10.36}, {'connected_gene': 'RNU6-1160P', 'score': 9.91}, {'connected_gene': 'LINC00476', 'score': 4.82}, {'connected_gene': 'LOC158434', 'score': 0.44}, {'connected_gene': 'EIF4BP3', 'score': 0.34}]
chr9	GH09I096302	96302166	96302225	0.5	[{'connected_gene': 'HSD17B3', 'score': 550.39}, {'connected_gene': 'RNU6-1160P', 'score': 0.25}]
chr9	GH09I096278	96278767	96282293	0.66	[{'connected_gene': 'HSD17B3', 'score': 20.95}, {'connected_gene': 'HSD17B3-AS1', 'score': 12.0}, {'connected_gene': 'RNU6-1160P', 'score': 11.6}, {'connected_gene': 'ANKRD18CP', 'score': 5.05}]
chr9	GH09I096051	96051456	96051734	0.44	[{'connected_gene': 'HSD17B3', 'score': 16.63}, {'connected_gene': 'LINC00092', 'score': 12.0}, {'connected_gene': 'PIR61383', 'score': 0.39}, {'connected_gene': 'ERCC6L2', 'score': 0.1}]
chr9	GH09I096498	96498234	96500285	0.46	[{'connected_gene': 'HABP4', 'score': 12.06}, {'connected_gene': 'HSD17B3', 'score': 4.86}, {'connected_gene': 'CDC14B', 'score': 4.31}, {'connected_gene': 'LOC105376163', 'score': 0.15}]
chr9	GH09I096338	96338479	96341869	1.16	[{'connected_gene': 'HABP4', 'score': 8.23}, {'connected_gene': 'HSD17B3', 'score': 0.31}, {'connected_gene': 'SLC35D2', 'score': 0.26}]
chr9	GH09I096519	96519879	96520028	0.2	[{'connected_gene': 'HABP4', 'score': 12.07}, {'connected_gene': 'HSD17B3', 'score': 10.03}, {'connected_gene': 'RNU6-1160P', 'score': 10.02}, {'connected_gene': 'LOC105376163', 'score': 0.18}, {'connected_gene': 'CDC14B', 'score': 0.15}]
chr9	GH09I096505	96505029	96506186	0.2	[{'connected_gene': 'HABP4', 'score': 12.04}, {'connected_gene': 'HSD17B3', 'score': 4.86}, {'connected_gene': 'LOC105376163', 'score': 0.16}, {'connected_gene': 'CDC14B', 'score': 0.14}]
chr9	GH09I096342	96342348	96345936	1.23	[{'connected_gene': 'HABP4', 'score': 7.53}, {'connected_gene': 'CDC14B', 'score': 6.88}, {'connected_gene': 'HSD17B3', 'score': 0.29}, {'connected_gene': 'SLC35D2', 'score': 0.28}]
chr9	GH09I096521	96521905	96524405	0.65	[{'connected_gene': 'CDC14B', 'score': 11.15}, {'connected_gene': 'HSD17B3', 'score': 10.03}, {'connected_gene': 'RNU6-1160P', 'score': 10.02}, {'connected_gene': 'HABP4', 'score': 0.19}, {'connected_gene': 'LOC105376163', 'score': 0.18}]
chr9	GH09I096327	96327859	96328008	0.65	[{'connected_gene': 'ZNF367', 'score': 11.72}, {'connected_gene': 'CDC14B', 'score': 11.14}, {'connected_gene': 'HSD17B3-AS1', 'score': 10.77}, {'connected_gene': 'HSD17B3', 'score': 4.87}, {'connected_gene': 'VN1R51P', 'score': 4.8}, {'connected_gene': 'SLC35D2', 'score': 0.22}]
chr9	GH09I096365	96365887	96367351	0.31	[{'connected_gene': 'ZNF367', 'score': 12.46}, {'connected_gene': 'SLC35D2', 'score': 0.37}, {'connected_gene': 'HSD17B3', 'score': 0.23}]
chr9	GH09I096331	96331339	96331528	0.31	[{'connected_gene': 'ZNF367', 'score': 11.08}, {'connected_gene': 'HSD17B3-AS1', 'score': 10.5}, {'connected_gene': 'HABP4', 'score': 7.62}, {'connected_gene': 'HSD17B3', 'score': 4.72}, {'connected_gene': 'SLC35D2', 'score': 0.23}]
chr9	GH09I096369	96369891	96370051	0.22	[{'connected_gene': 'SLC35D2', 'score': 0.39}, {'connected_gene': 'HSD17B3', 'score': 0.22}]
chr9	GH09I096376	96376832	96378448	0.95	[{'connected_gene': 'SLC35D2', 'score': 0.44}, {'connected_gene': 'HSD17B3', 'score': 0.21}]
chr9	GH09I096216	96216094	96220071	1.27	[{'connected_gene': 'HSD17B3-AS1', 'score': 12.49}, {'connected_gene': 'HSD17B3', 'score': 12.33}, {'connected_gene': 'RNU6-1160P', 'score': 11.43}, {'connected_gene': 'EIF4BP3', 'score': 0.19}]
chr9	GH09I096176	96176901	96177948	0.58	[{'connected_gene': 'HSD17B3-AS1', 'score': 11.27}, {'connected_gene': 'HSD17B3', 'score': 11.19}, {'connected_gene': 'VN1R51P', 'score': 4.98}, {'connected_gene': 'EIF4BP3', 'score': 0.29}]
chr9	GH09I096241	96241459	96241608	0.68	[{'connected_gene': 'HSD17B3-AS1', 'score': 0.77}, {'connected_gene': 'HSD17B3', 'score': 0.19}, {'connected_gene': 'EIF4BP3', 'score': 0.15}]
chr9	GH09I096256	96256419	96257238	0.9	[{'connected_gene': 'GC09M096258', 'score': 550.77}, {'connected_gene': 'RNU6-1160P', 'score': 550.77}, {'connected_gene': 'HSD17B3-AS1', 'score': 0.39}, {'connected_gene': 'HSD17B3', 'score': 0.22}]