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
ENST00000245912	[[6663147, 6665361], [6667123, 6667165], [6667423, 6667460], [6669969, 6670128]]	[[6664936, 6665361], [6667123, 6667165], [6667423, 6667460], [6669969, 6670080]]
ENST00000326176	[[6663147, 6665361], [6667123, 6667165], [6667423, 6667460], [6669969, 6670169], [6670306, 6670599]]	[[6664936, 6665361], [6667123, 6667165], [6667423, 6667460], [6669969, 6670080]]
ENST00000599359	[[6664565, 6665361], [6667123, 6667165], [6667423, 6667460], [6669861, 6670169], [6670306, 6670599]]	[[6664936, 6665361], [6667123, 6667165], [6667423, 6667460], [6669861, 6670080]]
NM_172014	[[6661263, 6665361], [6667123, 6667165], [6667423, 6667460], [6669969, 6670169]]	[[6664936, 6665361], [6667123, 6667165], [6667423, 6667460], [6669969, 6670080]]
NM_003807	[[6661263, 6665361], [6667123, 6667165], [6667423, 6667460], [6669861, 6670169], [6670306, 6670599]]	[[6664936, 6665361], [6667123, 6667165], [6667423, 6667460], [6669861, 6670080]]

Promoter

Chrom	Start	End	Description
chr19	6670048	6670059	CAGE_peak_4_at_TNFSF14_5end
chr19	6670086	6670107	CAGE_peak_2_at_TNFSF14_5end
chr19	6670134	6670147	CAGE_peak_3_at_TNFSF14_5end
chr19	6670162	6670181	CAGE_peak_1_at_TNFSF14_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I006556	6556464	6556733	0.78	[{'connected_gene': 'TRIP10', 'score': 14.56}, {'connected_gene': 'ENSG00000269680', 'score': 11.43}, {'connected_gene': 'SAFB2', 'score': 10.32}, {'connected_gene': 'ADGRE1', 'score': 3.44}, {'connected_gene': 'TNFSF14', 'score': 2.39}, {'connected_gene': 'TNFSF9', 'score': 2.22}, {'connected_gene': 'RFX2', 'score': 1.78}, {'connected_gene': 'VAV1', 'score': 1.55}, {'connected_gene': 'LOC100421483', 'score': 0.77}, {'connected_gene': 'CLIC4P2', 'score': 0.44}]
chr19	GH19I006659	6659875	6659966	0.22	[{'connected_gene': 'TNFSF9', 'score': 1.63}, {'connected_gene': 'TNFSF14', 'score': 1.62}, {'connected_gene': 'GC19M006661', 'score': 0.77}, {'connected_gene': 'GC19P006639', 'score': 0.34}]
chr19	GH19I006667	6667055	6670924	2.41	[{'connected_gene': 'TNFSF14', 'score': 557.17}, {'connected_gene': 'ACSBG2', 'score': 16.25}, {'connected_gene': 'ZNF557', 'score': 10.91}, {'connected_gene': 'GTF2F1', 'score': 10.85}, {'connected_gene': 'VAV1', 'score': 8.42}, {'connected_gene': 'DENND1C', 'score': 6.77}, {'connected_gene': 'ADGRE1', 'score': 2.87}, {'connected_gene': 'GPR108', 'score': 1.66}, {'connected_gene': 'GC19M006661', 'score': 0.44}]
chr19	GH19I006674	6674538	6675675	1.7	[{'connected_gene': 'TNFSF14', 'score': 51.55}, {'connected_gene': 'DENND1C', 'score': 14.97}, {'connected_gene': 'C3', 'score': 12.09}, {'connected_gene': 'GPR108', 'score': 12.07}, {'connected_gene': 'TRIP10', 'score': 12.07}, {'connected_gene': 'XAB2', 'score': 11.99}, {'connected_gene': 'ZNF557', 'score': 11.44}, {'connected_gene': 'DUS3L', 'score': 10.27}, {'connected_gene': 'KHSRP', 'score': 9.76}, {'connected_gene': 'STXBP2', 'score': 9.72}, {'connected_gene': 'ADGRE1', 'score': 4.81}, {'connected_gene': 'VAV1', 'score': 2.93}, {'connected_gene': 'TNFSF9', 'score': 1.78}, {'connected_gene': 'GC19P006699', 'score': 0.34}]
chr19	GH19I006679	6679001	6680200	0.83	[{'connected_gene': 'TNFSF14', 'score': 0.44}, {'connected_gene': 'GC19P006699', 'score': 0.34}, {'connected_gene': 'C3', 'score': 0.23}]
chr19	GH19I006677	6677598	6678600	1.22	[{'connected_gene': 'TNFSF14', 'score': 0.44}, {'connected_gene': 'GC19P006699', 'score': 0.34}, {'connected_gene': 'C3', 'score': 0.23}]
chr19	GH19I006641	6641328	6642568	1.14	[{'connected_gene': 'TNFSF14', 'score': 13.37}, {'connected_gene': 'GTF2F1', 'score': 5.06}, {'connected_gene': 'GC19P006639', 'score': 0.77}, {'connected_gene': 'GC19M006661', 'score': 0.34}]
chr19	GH19I006633	6633200	6633479	0.98	[{'connected_gene': 'TNFSF14', 'score': 13.13}, {'connected_gene': 'GC19P006639', 'score': 0.44}, {'connected_gene': 'GC19M006622', 'score': 0.39}]
chr19	GH19I006632	6632090	6632279	0.65	[{'connected_gene': 'TNFSF14', 'score': 13.13}, {'connected_gene': 'GC19P006639', 'score': 0.44}, {'connected_gene': 'GC19M006622', 'score': 0.44}]
chr19	GH19I006634	6632330	6632479	0.63	[{'connected_gene': 'TNFSF14', 'score': 13.13}, {'connected_gene': 'GC19P006639', 'score': 0.44}, {'connected_gene': 'GC19M006622', 'score': 0.44}]
chr19	GH19I006799	6799588	6804356	1.65	[{'connected_gene': 'KHSRP', 'score': 12.35}, {'connected_gene': 'ZNF557', 'score': 12.08}, {'connected_gene': 'XAB2', 'score': 11.91}, {'connected_gene': 'ENSG00000267571', 'score': 10.96}, {'connected_gene': 'ADGRE1', 'score': 8.68}, {'connected_gene': 'TNFSF14', 'score': 8.52}, {'connected_gene': 'VAV1', 'score': 6.97}, {'connected_gene': 'DENND1C', 'score': 3.41}, {'connected_gene': 'SH2D3A', 'score': 2.9}, {'connected_gene': 'GPR108', 'score': 2.21}, {'connected_gene': 'TNFSF9', 'score': 1.33}, {'connected_gene': 'GC19P006821', 'score': 0.37}]
chr19	GH19I006717	6717953	6724363	1.93	[{'connected_gene': 'C3', 'score': 550.44}, {'connected_gene': 'GPR108', 'score': 16.36}, {'connected_gene': 'ZNF557', 'score': 14.82}, {'connected_gene': 'DUS3L', 'score': 14.11}, {'connected_gene': 'XAB2', 'score': 13.01}, {'connected_gene': 'TNFSF14', 'score': 12.85}, {'connected_gene': 'RANBP3', 'score': 11.27}, {'connected_gene': 'ENSG00000276980', 'score': 0.77}]
chr19	GH19I006630	6630790	6630939	0.75	[{'connected_gene': 'DUS3L', 'score': 14.08}, {'connected_gene': 'XAB2', 'score': 13.77}, {'connected_gene': 'ZNF557', 'score': 13.41}, {'connected_gene': 'TNFSF14', 'score': 13.13}, {'connected_gene': 'ENSG00000267571', 'score': 10.24}, {'connected_gene': 'GC19P006639', 'score': 0.44}, {'connected_gene': 'GC19M006622', 'score': 0.44}]
chr19	GH19I006890	6890078	6893111	1.21	[{'connected_gene': 'ADGRE1', 'score': 20.05}, {'connected_gene': 'ENSG00000269680', 'score': 5.06}, {'connected_gene': 'VAV1', 'score': 4.39}, {'connected_gene': 'GPR108', 'score': 2.31}, {'connected_gene': 'TNFSF14', 'score': 1.55}, {'connected_gene': 'DENND1C', 'score': 1.29}, {'connected_gene': 'ENSG00000280091', 'score': 0.44}, {'connected_gene': 'GC19P006870', 'score': 0.34}]
chr19	GH19I006575	6575699	6581194	1.63	[{'connected_gene': 'GC19P006581', 'score': 550.77}, {'connected_gene': 'GC19P006580', 'score': 550.77}, {'connected_gene': 'TNFSF14', 'score': 12.23}, {'connected_gene': 'TNFSF9', 'score': 8.31}, {'connected_gene': 'CD70', 'score': 7.88}, {'connected_gene': 'DENND1C', 'score': 2.91}, {'connected_gene': 'ZNF557', 'score': 2.4}, {'connected_gene': 'GC19M006573', 'score': 0.44}, {'connected_gene': 'ENSG00000199223', 'score': 0.44}]
chr19	GH19I006639	6639211	6639904	1.21	[{'connected_gene': 'GC19P006639', 'score': 550.77}, {'connected_gene': 'TNFSF14', 'score': 21.9}, {'connected_gene': 'GTF2F1', 'score': 10.31}, {'connected_gene': 'TNFSF9', 'score': 1.6}, {'connected_gene': 'GC19M006661', 'score': 0.34}]
chr19	GH19I006572	6572330	6572479	0.74	[{'connected_gene': 'GC19P006571', 'score': 550.77}, {'connected_gene': 'GC19M006573', 'score': 550.77}, {'connected_gene': 'ENSG00000199223', 'score': 550.77}, {'connected_gene': 'TNFSF14', 'score': 11.92}]
chr19	GH19I006660	6660377	6664526	1.48	[{'connected_gene': 'GC19M006661', 'score': 550.77}, {'connected_gene': 'DUS3L', 'score': 20.46}, {'connected_gene': 'ENSG00000267571', 'score': 20.06}, {'connected_gene': 'ZNF557', 'score': 19.05}, {'connected_gene': 'TRIP10', 'score': 14.66}, {'connected_gene': 'ENSG00000269680', 'score': 11.51}, {'connected_gene': 'XAB2', 'score': 11.44}, {'connected_gene': 'KHSRP', 'score': 9.7}, {'connected_gene': 'GPR108', 'score': 4.9}, {'connected_gene': 'TNFSF9', 'score': 1.7}, {'connected_gene': 'TNFSF14', 'score': 0.44}, {'connected_gene': 'GC19P006639', 'score': 0.34}]