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
ENST00000245817	[[6531009, 6531314], [6532796, 6532827], [6534610, 6535931]]	[[6531047, 6531314], [6532796, 6532827], [6534610, 6535077]]
NM_003811	[[6531009, 6531314], [6532796, 6532827], [6534610, 6535939]]	[[6531047, 6531314], [6532796, 6532827], [6534610, 6535077]]

Promoter

Chrom	Start	End	Description
chr19	6531019	6531045	CAGE_peak_1_at_TNFSF9_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I006517	6517730	6518821	1.45	[{'connected_gene': 'CD70', 'score': 7.64}, {'connected_gene': 'TNFSF9', 'score': 3.65}, {'connected_gene': 'RFX2', 'score': 1.51}, {'connected_gene': 'TUBB4A', 'score': 0.37}]
chr19	GH19I006588	6588727	6591813	2.01	[{'connected_gene': 'CD70', 'score': 557.26}, {'connected_gene': 'TNFSF9', 'score': 1.65}, {'connected_gene': 'PSPN', 'score': 1.44}, {'connected_gene': 'RPL7P50', 'score': 0.77}, {'connected_gene': 'GC19P006581', 'score': 0.44}]
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	GH19I006527	6527568	6533719	2.32	[{'connected_gene': 'TNFSF9', 'score': 550.77}, {'connected_gene': 'ZNF557', 'score': 154.15}, {'connected_gene': 'KHSRP', 'score': 136.17}, {'connected_gene': 'DUS3L', 'score': 128.23}, {'connected_gene': 'SAFB2', 'score': 106.26}, {'connected_gene': 'SAFB', 'score': 101.87}, {'connected_gene': 'SNRPEP4', 'score': 79.13}, {'connected_gene': 'ENSG00000267571', 'score': 68.44}, {'connected_gene': 'GTF2F1', 'score': 63.9}, {'connected_gene': 'RANBP3', 'score': 50.02}, {'connected_gene': 'VMAC', 'score': 39.59}, {'connected_gene': 'GPR108', 'score': 31.01}, {'connected_gene': 'TRIP10', 'score': 23.38}, {'connected_gene': 'RPL36', 'score': 18.65}, {'connected_gene': 'ACSBG2', 'score': 16.27}, {'connected_gene': 'ENSG00000269680', 'score': 11.42}, {'connected_gene': 'PSPN', 'score': 10.65}, {'connected_gene': 'HSD11B1L', 'score': 9.7}, {'connected_gene': 'SLC25A23', 'score': 5.79}, {'connected_gene': 'LOC100421483', 'score': 0.34}]
chr19	GH19I006513	6513860	6514662	0.31	[{'connected_gene': 'TNFSF9', 'score': 0.39}, {'connected_gene': 'TUBB4A', 'score': 0.39}]
chr19	GH19I006521	6521633	6523063	1.08	[{'connected_gene': 'TNFSF9', 'score': 0.44}, {'connected_gene': 'TUBB4A', 'score': 0.37}]
chr19	GH19I006519	6519430	6519579	0.59	[{'connected_gene': 'TNFSF9', 'score': 0.44}, {'connected_gene': 'TUBB4A', 'score': 0.37}]
chr19	GH19I006535	6535750	6539388	1.08	[{'connected_gene': 'TNFSF9', 'score': 0.44}, {'connected_gene': 'LOC100421483', 'score': 0.37}]
chr19	GH19I006534	6534550	6534699	0.43	[{'connected_gene': 'TNFSF9', 'score': 0.44}, {'connected_gene': 'LOC100421483', 'score': 0.37}]
chr19	GH19I006533	6533810	6534039	0.57	[{'connected_gene': 'TNFSF9', 'score': 0.44}, {'connected_gene': 'LOC100421483', 'score': 0.34}]
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	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	GH19I006515	6515610	6517659	1.44	[{'connected_gene': 'KHSRP', 'score': 59.51}, {'connected_gene': 'SNRPEP4', 'score': 53.17}, {'connected_gene': 'DUS3L', 'score': 45.99}, {'connected_gene': 'ENSG00000267571', 'score': 35.15}, {'connected_gene': 'ZNF557', 'score': 35.0}, {'connected_gene': 'VMAC', 'score': 17.21}, {'connected_gene': 'GPR108', 'score': 14.44}, {'connected_gene': 'SAFB2', 'score': 12.27}, {'connected_gene': 'RANBP3', 'score': 11.94}, {'connected_gene': 'SAFB', 'score': 10.33}, {'connected_gene': 'SLC25A23', 'score': 5.19}, {'connected_gene': 'TUBB4A', 'score': 0.39}, {'connected_gene': 'TNFSF9', 'score': 0.39}]
chr19	GH19I006504	6504601	6505176	1.29	[{'connected_gene': 'ZNF557', 'score': 21.81}, {'connected_gene': 'DUS3L', 'score': 19.3}, {'connected_gene': 'KHSRP', 'score': 14.06}, {'connected_gene': 'SAFB', 'score': 13.01}, {'connected_gene': 'RANBP3', 'score': 12.04}, {'connected_gene': 'ENSG00000267571', 'score': 10.46}, {'connected_gene': 'SLC25A41', 'score': 5.0}, {'connected_gene': 'TUBB4A', 'score': 0.77}, {'connected_gene': 'TNFSF9', 'score': 0.34}]
chr19	GH19I006489	6489050	6490425	1.44	[{'connected_gene': 'ZNF557', 'score': 12.34}, {'connected_gene': 'DUS3L', 'score': 11.89}, {'connected_gene': 'SNRPEP4', 'score': 11.45}, {'connected_gene': 'VMAC', 'score': 10.93}, {'connected_gene': 'TRIP10', 'score': 10.66}, {'connected_gene': 'CD70', 'score': 5.08}, {'connected_gene': 'SLC25A23', 'score': 3.63}, {'connected_gene': 'TNFSF9', 'score': 1.72}, {'connected_gene': 'DENND1C', 'score': 1.61}, {'connected_gene': 'ENSG00000268191', 'score': 0.77}, {'connected_gene': 'ENSG00000268203', 'score': 0.77}]
chr19	GH19I006055	6055601	6069359	1.8	[{'connected_gene': 'RFX2', 'score': 27.83}, {'connected_gene': 'ACSBG2', 'score': 25.03}, {'connected_gene': 'PRR22', 'score': 13.14}, {'connected_gene': 'SAFB', 'score': 11.95}, {'connected_gene': 'SNRPEP4', 'score': 10.57}, {'connected_gene': 'DUS3L', 'score': 10.0}, {'connected_gene': 'SLC25A41', 'score': 9.91}, {'connected_gene': 'KHSRP', 'score': 9.74}, {'connected_gene': 'CATSPERD', 'score': 9.44}, {'connected_gene': 'DENND1C', 'score': 3.66}, {'connected_gene': 'SAFB2', 'score': 2.41}, {'connected_gene': 'TNFSF9', 'score': 1.31}, {'connected_gene': 'VMAC', 'score': 1.29}, {'connected_gene': 'ENSG00000267262', 'score': 0.44}, {'connected_gene': 'GC19M006019', 'score': 0.34}]
chr19	GH19I006587	6587005	6588529	1.56	[{'connected_gene': 'DUS3L', 'score': 30.01}, {'connected_gene': 'ZNF557', 'score': 21.39}, {'connected_gene': 'VMAC', 'score': 19.84}, {'connected_gene': 'DENND1C', 'score': 18.13}, {'connected_gene': 'ARHGEF18', 'score': 12.45}, {'connected_gene': 'SAFB', 'score': 10.97}, {'connected_gene': 'TRIP10', 'score': 10.7}, {'connected_gene': 'GPR108', 'score': 10.35}, {'connected_gene': 'CD70', 'score': 6.82}, {'connected_gene': 'TNFSF9', 'score': 4.75}, {'connected_gene': 'GC19P006581', 'score': 0.44}, {'connected_gene': 'RPL7P50', 'score': 0.44}]
chr19	GH19I006510	6510346	6511379	0.2	[{'connected_gene': 'TUBB4A', 'score': 0.44}, {'connected_gene': 'TNFSF9', 'score': 0.37}]
chr19	GH19I006509	6509124	6510174	1.21	[{'connected_gene': 'TUBB4A', 'score': 0.44}, {'connected_gene': 'TNFSF9', 'score': 0.37}]
chr19	GH19I006551	6551524	6552521	1.06	[{'connected_gene': 'LOC100421483', 'score': 0.77}, {'connected_gene': 'TNFSF9', 'score': 0.34}]
chr19	GH19I006543	6543890	6544039	0.64	[{'connected_gene': 'LOC100421483', 'score': 0.39}, {'connected_gene': 'TNFSF9', 'score': 0.37}]
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	GH19I006592	6592204	6592933	1.23	[{'connected_gene': 'GC19P006595', 'score': 550.77}, {'connected_gene': 'RPL7P50', 'score': 550.77}, {'connected_gene': 'CD70', 'score': 18.52}, {'connected_gene': 'TNFSF9', 'score': 4.1}, {'connected_gene': 'DENND1C', 'score': 2.62}, {'connected_gene': 'ZNF557', 'score': 1.54}, {'connected_gene': 'GC19P006581', 'score': 0.39}]
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}]