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
ENST00000006275	[[45666185, 45666481], [45667173, 45667267], [45667421, 45667505], [45668110, 45668228], [45668384, 45668452], [45681350, 45681495]]	[[45666449, 45666481], [45667173, 45667267], [45667421, 45667505], [45668110, 45668228], [45668384, 45668452], [45681350, 45681476]]
ENST00000588062	[[45666185, 45666481], [45667173, 45667267], [45667421, 45667505], [45668110, 45668228], [45681392, 45681495]]	[[45667211, 45667267], [45667421, 45667505], [45668110, 45668228], [45681392, 45681476]]
ENST00000585934	[[45666190, 45666481], [45667173, 45667267], [45667421, 45667505], [45668110, 45668228], [45668384, 45668452], [45681392, 45681495]]	[[45666449, 45666481], [45667173, 45667267], [45667421, 45667505], [45668110, 45668228], [45668384, 45668452], [45681392, 45681476]]
ENST00000592647	[[45666398, 45666481], [45667173, 45667267], [45667421, 45667505], [45668110, 45668228], [45681350, 45681485]]	[[45667211, 45667267], [45667421, 45667505], [45668110, 45668228], [45681350, 45681476]]
ENST00000587818	[[45667982, 45668228], [45668384, 45668452], [45681350, 45681469]]	None
NM_024108	[[45666185, 45666481], [45667173, 45667267], [45667421, 45667505], [45668110, 45668228], [45668384, 45668452], [45681350, 45681501]]	[[45666449, 45666481], [45667173, 45667267], [45667421, 45667505], [45668110, 45668228], [45668384, 45668452], [45681350, 45681476]]
NM_001270892	[[45666185, 45666481], [45667173, 45667267], [45667421, 45667505], [45668110, 45668228], [45681350, 45681501]]	[[45667211, 45667267], [45667421, 45667505], [45668110, 45668228], [45681350, 45681476]]
NM_001270891	[[45666185, 45666481], [45667173, 45667267], [45667421, 45667505], [45668110, 45668228], [45668384, 45668452], [45681392, 45681501]]	[[45666449, 45666481], [45667173, 45667267], [45667421, 45667505], [45668110, 45668228], [45668384, 45668452], [45681392, 45681476]]
NM_001270893	[[45666185, 45666481], [45667173, 45667267], [45667421, 45667505], [45668110, 45668228], [45681392, 45681501]]	[[45667211, 45667267], [45667421, 45667505], [45668110, 45668228], [45681392, 45681476]]

Promoter

Chrom	Start	End	Description
chr19	45681460	45681481	CAGE_peak_2_at_TRAPPC6A_5end
chr19	45681482	45681514	CAGE_peak_1_at_TRAPPC6A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I045166	45166746	45167552	0.75	[{'connected_gene': 'GEMIN7', 'score': 14.51}, {'connected_gene': 'PPP1R37', 'score': 7.66}, {'connected_gene': 'NKPD1', 'score': 0.77}, {'connected_gene': 'TRAPPC6A', 'score': 0.39}, {'connected_gene': 'MARK4', 'score': 0.17}]
chr19	GH19I045170	45170602	45174788	1.08	[{'connected_gene': 'GEMIN7', 'score': 15.0}, {'connected_gene': 'PPP1R37', 'score': 9.0}, {'connected_gene': 'EIF5AP3', 'score': 5.77}, {'connected_gene': 'NKPD1', 'score': 0.44}, {'connected_gene': 'TRAPPC6A', 'score': 0.44}, {'connected_gene': 'MARK4', 'score': 0.16}]
chr19	GH19I045177	45177130	45180828	2.07	[{'connected_gene': 'BLOC1S3', 'score': 550.77}, {'connected_gene': 'TRAPPC6A', 'score': 550.77}, {'connected_gene': 'ENSG00000267545', 'score': 550.77}, {'connected_gene': 'ZNF180', 'score': 18.97}, {'connected_gene': 'CCDC61', 'score': 13.37}, {'connected_gene': 'SYMPK', 'score': 10.33}, {'connected_gene': 'RELB', 'score': 10.21}, {'connected_gene': 'PPP1R37', 'score': 9.12}, {'connected_gene': 'MARK4', 'score': 0.15}]
chr19	GH19I045163	45163835	45165373	1	[{'connected_gene': 'NKPD1', 'score': 558.75}, {'connected_gene': 'PPP1R37', 'score': 9.05}, {'connected_gene': 'TRAPPC6A', 'score': 0.39}, {'connected_gene': 'MARK4', 'score': 0.17}]
chr19	GH19I045477	45477087	45479512	2.07	[{'connected_gene': 'ERCC1', 'score': 557.05}, {'connected_gene': 'PIR58452', 'score': 550.77}, {'connected_gene': 'TRU-TCA1-1', 'score': 550.77}, {'connected_gene': 'ZNF180', 'score': 37.3}, {'connected_gene': 'CCDC61', 'score': 20.48}, {'connected_gene': 'CD3EAP', 'score': 19.25}, {'connected_gene': 'IRF2BP1', 'score': 14.26}, {'connected_gene': 'CLASRP', 'score': 13.84}, {'connected_gene': 'PPP1R37', 'score': 13.8}, {'connected_gene': 'ENSG00000268810', 'score': 12.93}, {'connected_gene': 'PPM1N', 'score': 12.68}, {'connected_gene': 'CEACAM19', 'score': 12.22}, {'connected_gene': 'VASP', 'score': 11.92}, {'connected_gene': 'PPP1R13L', 'score': 11.7}, {'connected_gene': 'EML2', 'score': 10.98}, {'connected_gene': 'SNRPD2', 'score': 10.84}, {'connected_gene': 'ERCC2', 'score': 10.51}, {'connected_gene': 'PPP5C', 'score': 10.14}, {'connected_gene': 'MIR330', 'score': 10.06}, {'connected_gene': 'FOSB', 'score': 3.47}, {'connected_gene': 'RELB', 'score': 2.62}, {'connected_gene': 'GIPR', 'score': 2.57}, {'connected_gene': 'TRAPPC6A', 'score': 1.33}, {'connected_gene': 'FBXO46', 'score': 1.24}, {'connected_gene': 'GC19P045474', 'score': 0.77}]
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	GH19I045446	45446081	45452954	2.29	[{'connected_gene': 'CD3EAP', 'score': 13.41}, {'connected_gene': 'ENSG00000268810', 'score': 10.94}, {'connected_gene': 'ERCC1', 'score': 10.66}, {'connected_gene': 'GIPR', 'score': 6.62}, {'connected_gene': 'RTN2', 'score': 5.49}, {'connected_gene': 'RELB', 'score': 5.08}, {'connected_gene': 'FOSB', 'score': 4.11}, {'connected_gene': 'CLASRP', 'score': 2.63}, {'connected_gene': 'PPM1N', 'score': 2.61}, {'connected_gene': 'TRAPPC6A', 'score': 1.57}, {'connected_gene': 'BLOC1S3', 'score': 1.32}, {'connected_gene': 'MIR6088', 'score': 0.39}]