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
ENST00000252485	[[45349431, 45349870], [45368527, 45368917], [45375109, 45375406], [45377172, 45377290], [45377586, 45377735], [45381479, 45382198]]	[[45349782, 45349870], [45368527, 45368917], [45375109, 45375406], [45377172, 45377290], [45377586, 45377735], [45381479, 45381877]]
ENST00000252483	[[45349782, 45349870], [45368527, 45368917], [45375109, 45375406], [45377172, 45377290], [45377586, 45377735], [45385467, 45385621], [45389193, 45389257], [45389389, 45389476], [45391366, 45392485]]	[[45349782, 45349870], [45368527, 45368917], [45375109, 45375406], [45377172, 45377290], [45377586, 45377735], [45385467, 45385621], [45389193, 45389257], [45389389, 45389476], [45391366, 45391636]]
ENST00000591581	[[45375109, 45375406], [45377172, 45377290], [45377586, 45377735], [45381809, 45382195]]	[[45375109, 45375406], [45377172, 45377290], [45377586, 45377735], [45381809, 45381877]]
ENST00000587386	[[45377198, 45377290], [45377586, 45377946]]	None
ENST00000585601	[[45377635, 45377719], [45381629, 45382195]]	[[45377635, 45377719], [45381629, 45381716]]
ENST00000592018	[[45385594, 45385621], [45391366, 45392151]]	[[45385594, 45385621], [45391366, 45391502]]
NM_002856	[[45349392, 45349870], [45368527, 45368917], [45375109, 45375406], [45377172, 45377290], [45377586, 45377735], [45381479, 45382198]]	[[45349782, 45349870], [45368527, 45368917], [45375109, 45375406], [45377172, 45377290], [45377586, 45377735], [45381479, 45381877]]
NM_001042724	[[45349392, 45349870], [45368527, 45368917], [45375109, 45375406], [45377172, 45377290], [45377586, 45377735], [45385467, 45385621], [45389193, 45389257], [45389389, 45389476], [45391366, 45392485]]	[[45349782, 45349870], [45368527, 45368917], [45375109, 45375406], [45377172, 45377290], [45377586, 45377735], [45385467, 45385621], [45389193, 45389257], [45389389, 45389476], [45391366, 45391636]]

Promoter

Chrom	Start	End	Description
chr19	45349540	45349625	CAGE_peak_1_at_PVRL2_5end
chr19	45349630	45349641	CAGE_peak_2_at_PVRL2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I044740	44740340	44759694	2.84	[{'connected_gene': 'BCL3', 'score': 577.97}, {'connected_gene': 'ZNF45', 'score': 75.12}, {'connected_gene': 'ZNF224', 'score': 69.6}, {'connected_gene': 'ZNF155', 'score': 65.17}, {'connected_gene': 'ZNF180', 'score': 63.19}, {'connected_gene': 'ZNF284', 'score': 57.57}, {'connected_gene': 'ZNF225', 'score': 50.99}, {'connected_gene': 'ZNF234', 'score': 48.43}, {'connected_gene': 'CLASRP', 'score': 47.89}, {'connected_gene': 'ZNF235', 'score': 43.64}, {'connected_gene': 'ZNF283', 'score': 38.74}, {'connected_gene': 'ZNF227', 'score': 37.51}, {'connected_gene': 'ZNF221', 'score': 34.5}, {'connected_gene': 'ZNF230', 'score': 32.11}, {'connected_gene': 'ZNF226', 'score': 30.44}, {'connected_gene': 'ZNF223', 'score': 29.89}, {'connected_gene': 'RELB', 'score': 29.78}, {'connected_gene': 'FBXO46', 'score': 24.67}, {'connected_gene': 'ZNF112', 'score': 24.27}, {'connected_gene': 'ENSG00000267114', 'score': 19.2}, {'connected_gene': 'MRPS15P2', 'score': 17.65}, {'connected_gene': 'LOC100505715', 'score': 12.53}, {'connected_gene': 'ZNF285', 'score': 10.89}, {'connected_gene': 'ZNF404', 'score': 10.6}, {'connected_gene': 'ZNF222', 'score': 10.54}, {'connected_gene': 'ENSG00000267191', 'score': 9.82}, {'connected_gene': 'ENSG00000266903', 'score': 7.69}, {'connected_gene': 'CBLC', 'score': 5.4}, {'connected_gene': 'NECTIN2', 'score': 4.91}, {'connected_gene': 'BLOC1S3', 'score': 1.74}, {'connected_gene': 'ZNF296', 'score': 1.09}, {'connected_gene': 'GC19M044758', 'score': 0.44}, {'connected_gene': 'MIR8085', 'score': 0.44}, {'connected_gene': 'GC19M044733', 'score': 0.18}]
chr19	GH19I044844	44844361	44851667	2.66	[{'connected_gene': 'NECTIN2', 'score': 570.87}, {'connected_gene': 'GC19P044850', 'score': 550.77}, {'connected_gene': 'ZNF180', 'score': 150.44}, {'connected_gene': 'ZNF45', 'score': 127.15}, {'connected_gene': 'ZNF225', 'score': 92.67}, {'connected_gene': 'CLASRP', 'score': 84.84}, {'connected_gene': 'ZNF224', 'score': 73.85}, {'connected_gene': 'ZNF234', 'score': 73.19}, {'connected_gene': 'ZNF284', 'score': 72.14}, {'connected_gene': 'FBXO46', 'score': 66.69}, {'connected_gene': 'LOC100505715', 'score': 65.68}, {'connected_gene': 'ENSG00000269148', 'score': 59.62}, {'connected_gene': 'ZNF285', 'score': 51.45}, {'connected_gene': 'ZNF227', 'score': 40.94}, {'connected_gene': 'ZNF230', 'score': 38.93}, {'connected_gene': 'ENSG00000267191', 'score': 38.61}, {'connected_gene': 'ZNF235', 'score': 33.02}, {'connected_gene': 'ZNF112', 'score': 32.08}, {'connected_gene': 'ZNF223', 'score': 30.34}, {'connected_gene': 'LOC100379224', 'score': 29.45}, {'connected_gene': 'ZNF226', 'score': 28.29}, {'connected_gene': 'ZNF221', 'score': 23.43}, {'connected_gene': 'LOC101928063', 'score': 22.49}, {'connected_gene': 'CEACAM19', 'score': 21.85}, {'connected_gene': 'ENSG00000267114', 'score': 21.48}, {'connected_gene': 'MRPS15P2', 'score': 21.33}, {'connected_gene': 'SNRPD2', 'score': 19.26}, {'connected_gene': 'RELB', 'score': 12.19}, {'connected_gene': 'ZNF233', 'score': 11.1}, {'connected_gene': 'BCAM', 'score': 10.61}, {'connected_gene': 'ZNF222', 'score': 10.54}, {'connected_gene': 'DM1-AS', 'score': 10.45}, {'connected_gene': 'QPCTL', 'score': 10.41}, {'connected_gene': 'ENSG00000259605', 'score': 9.97}, {'connected_gene': 'SIX5', 'score': 9.75}, {'connected_gene': 'BCL3', 'score': 1.53}, {'connected_gene': 'PIR35850', 'score': 0.44}]
chr19	GH19I044820	44820305	44822782	0.76	[{'connected_gene': 'NECTIN2', 'score': 10.6}, {'connected_gene': 'GC19M044733', 'score': 0.44}, {'connected_gene': 'BCAM', 'score': 0.39}]
chr19	GH19I044856	44856002	44859542	1.31	[{'connected_gene': 'NECTIN2', 'score': 17.68}, {'connected_gene': 'APOE', 'score': 12.36}, {'connected_gene': 'ENSG00000266903', 'score': 5.21}, {'connected_gene': 'PIR35850', 'score': 0.77}, {'connected_gene': 'TOMM40', 'score': 0.29}]
chr19	GH19I044868	44868106	44871193	1.26	[{'connected_gene': 'NECTIN2', 'score': 53.81}, {'connected_gene': 'TOMM40', 'score': 12.96}, {'connected_gene': 'APOE', 'score': 12.02}, {'connected_gene': 'ZNF225', 'score': 5.52}, {'connected_gene': 'PIR35850', 'score': 0.37}]
chr19	GH19I044874	44874743	44875423	0.2	[{'connected_gene': 'NECTIN2', 'score': 6.35}, {'connected_gene': 'TOMM40', 'score': 0.37}, {'connected_gene': 'PIR35850', 'score': 0.34}]
chr19	GH19I044873	44873409	44874661	0.2	[{'connected_gene': 'NECTIN2', 'score': 33.4}, {'connected_gene': 'TOMM40', 'score': 0.37}, {'connected_gene': 'PIR35850', 'score': 0.37}]
chr19	GH19I044875	44875578	44877776	0.66	[{'connected_gene': 'NECTIN2', 'score': 28.55}, {'connected_gene': 'ENSG00000266903', 'score': 5.82}, {'connected_gene': 'TOMM40', 'score': 0.39}, {'connected_gene': 'PIR35850', 'score': 0.34}]
chr19	GH19I044878	44878154	44879965	0.63	[{'connected_gene': 'NECTIN2', 'score': 22.0}, {'connected_gene': 'TOMM40', 'score': 0.39}, {'connected_gene': 'PIR35850', 'score': 0.34}]
chr19	GH19I044843	44843904	44844073	0.65	[{'connected_gene': 'NECTIN2', 'score': 0.77}, {'connected_gene': 'GC19M044733', 'score': 0.39}]
chr19	GH19I044624	44624925	44627905	1.47	[{'connected_gene': 'PVR', 'score': 11.5}, {'connected_gene': 'CEACAM22P', 'score': 10.39}, {'connected_gene': 'NECTIN2', 'score': 2.03}, {'connected_gene': 'GEMIN7', 'score': 1.4}, {'connected_gene': 'IGSF23', 'score': 0.39}]
chr19	GH19I044841	44841240	44841525	0.22	[{'connected_gene': 'CEACAM16', 'score': 3.55}, {'connected_gene': 'NKPD1', 'score': 1.48}, {'connected_gene': 'CLASRP', 'score': 1.44}, {'connected_gene': 'NECTIN2', 'score': 0.77}, {'connected_gene': 'GC19M044733', 'score': 0.39}]
chr19	GH19I044903	44903357	44907334	2.23	[{'connected_gene': 'APOE', 'score': 560.16}, {'connected_gene': 'ZNF180', 'score': 43.5}, {'connected_gene': 'ZNF224', 'score': 37.41}, {'connected_gene': 'CLASRP', 'score': 34.57}, {'connected_gene': 'ZNF45', 'score': 33.34}, {'connected_gene': 'ZNF230', 'score': 32.18}, {'connected_gene': 'ZNF284', 'score': 26.1}, {'connected_gene': 'ZNF234', 'score': 24.29}, {'connected_gene': 'FBXO46', 'score': 23.48}, {'connected_gene': 'ENSG00000269148', 'score': 21.0}, {'connected_gene': 'ZNF225', 'score': 12.72}, {'connected_gene': 'NECTIN2', 'score': 5.81}, {'connected_gene': 'OPA3', 'score': 4.49}, {'connected_gene': 'GC19P044899', 'score': 0.44}, {'connected_gene': 'GC19M044904', 'score': 0.44}, {'connected_gene': 'TOMM40', 'score': 0.39}]
chr19	GH19I045038	45038096	45042036	2.23	[{'connected_gene': 'CLASRP', 'score': 564.07}, {'connected_gene': 'ZNF180', 'score': 83.61}, {'connected_gene': 'ZNF225', 'score': 57.93}, {'connected_gene': 'ZNF284', 'score': 51.09}, {'connected_gene': 'ZNF224', 'score': 49.84}, {'connected_gene': 'MRPS15P2', 'score': 44.92}, {'connected_gene': 'ZNF223', 'score': 43.81}, {'connected_gene': 'ZNF235', 'score': 43.68}, {'connected_gene': 'ZNF234', 'score': 41.22}, {'connected_gene': 'ZNF112', 'score': 40.99}, {'connected_gene': 'ZNF227', 'score': 37.62}, {'connected_gene': 'ZNF226', 'score': 35.61}, {'connected_gene': 'CCDC61', 'score': 32.27}, {'connected_gene': 'ENSG00000267114', 'score': 21.24}, {'connected_gene': 'SYMPK', 'score': 21.05}, {'connected_gene': 'QPCTL', 'score': 20.81}, {'connected_gene': 'GEMIN7', 'score': 17.26}, {'connected_gene': 'ZNF296', 'score': 12.65}, {'connected_gene': 'PPP1R37', 'score': 12.61}, {'connected_gene': 'CEACAM19', 'score': 12.24}, {'connected_gene': 'IRF2BP1', 'score': 11.56}, {'connected_gene': 'APOE', 'score': 11.22}, {'connected_gene': 'ZNF285', 'score': 10.86}, {'connected_gene': 'SNRPD2', 'score': 10.79}, {'connected_gene': 'DM1-AS', 'score': 9.96}, {'connected_gene': 'ERCC1', 'score': 9.9}, {'connected_gene': 'ENSG00000269148', 'score': 9.68}, {'connected_gene': 'NECTIN2', 'score': 6.46}, {'connected_gene': 'TRAPPC6A', 'score': 5.25}, {'connected_gene': 'CD3EAP', 'score': 4.73}, {'connected_gene': 'RNU6-611P', 'score': 0.44}, {'connected_gene': 'RELB', 'score': 0.28}]
chr19	GH19I044889	44889191	44894261	2.4	[{'connected_gene': 'TOMM40', 'score': 554.7}, {'connected_gene': 'ENSG00000267282', 'score': 550.77}, {'connected_gene': 'ZNF180', 'score': 44.22}, {'connected_gene': 'ZNF234', 'score': 32.3}, {'connected_gene': 'ZNF45', 'score': 25.11}, {'connected_gene': 'ZNF224', 'score': 19.01}, {'connected_gene': 'CLASRP', 'score': 16.41}, {'connected_gene': 'ZNF155', 'score': 14.94}, {'connected_gene': 'ENSG00000269148', 'score': 12.84}, {'connected_gene': 'ZNF225', 'score': 12.55}, {'connected_gene': 'FBXO46', 'score': 12.31}, {'connected_gene': 'ZNF284', 'score': 12.08}, {'connected_gene': 'ZNF230', 'score': 11.72}, {'connected_gene': 'MRPS15P2', 'score': 11.65}, {'connected_gene': 'DM1-AS', 'score': 10.45}, {'connected_gene': 'SYMPK', 'score': 10.32}, {'connected_gene': 'RELB', 'score': 10.26}, {'connected_gene': 'ENSG00000259605', 'score': 9.98}, {'connected_gene': 'APOE', 'score': 5.93}, {'connected_gene': 'NECTIN2', 'score': 5.45}, {'connected_gene': 'APOC1P1', 'score': 4.36}, {'connected_gene': 'GEMIN7', 'score': 1.91}, {'connected_gene': 'ZNF285', 'score': 1.21}, {'connected_gene': 'GC19P044899', 'score': 0.44}]
chr19	GH19I044866	44866423	44867000	0.43	[{'connected_gene': 'TOMM40', 'score': 12.96}, {'connected_gene': 'APOE', 'score': 12.02}, {'connected_gene': 'PIR35850', 'score': 0.39}, {'connected_gene': 'NECTIN2', 'score': 0.34}]
chr19	GH19I044909	44909534	44915843	2.27	[{'connected_gene': 'GC19P044915', 'score': 550.77}, {'connected_gene': 'GC19M044904', 'score': 550.77}, {'connected_gene': 'APOC1', 'score': 550.77}, {'connected_gene': 'APOE', 'score': 11.91}, {'connected_gene': 'RELB', 'score': 11.27}, {'connected_gene': 'NECTIN2', 'score': 6.19}, {'connected_gene': 'BCAM', 'score': 4.91}, {'connected_gene': 'ENSG00000280087', 'score': 0.77}]