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
ENST00000367126	[[206223975, 206225380], [206230807, 206231639]]	[[206224440, 206225380], [206230807, 206231142]]
NM_000707	[[206224282, 206225380], [206230807, 206231482]]	[[206224440, 206225380], [206230807, 206231142]]

Promoter

Chrom	Start	End	Description
chr1	206223941	206223944	CAGE_peak_1_at_AVPR1B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I206093	206093575	206094856	1.16	[{'connected_gene': 'RHEX', 'score': 550.22}, {'connected_gene': 'ENSG00000226780', 'score': 11.31}, {'connected_gene': 'AVPR1B', 'score': 11.31}, {'connected_gene': 'CTSE', 'score': 10.97}, {'connected_gene': 'ENSG00000252692', 'score': 0.39}]
chr1	GH01I206034	206034276	206042263	1.39	[{'connected_gene': 'RHEX', 'score': 554.9}, {'connected_gene': 'ENSG00000252692', 'score': 11.82}, {'connected_gene': 'ENSG00000226780', 'score': 10.75}, {'connected_gene': 'AVPR1B', 'score': 10.75}, {'connected_gene': 'PM20D1', 'score': 4.52}, {'connected_gene': 'GC01M206045', 'score': 0.44}]
chr1	GH01I206046	206046481	206054292	2.13	[{'connected_gene': 'RHEX', 'score': 553.91}, {'connected_gene': 'ELK4', 'score': 35.35}, {'connected_gene': 'EIF2D', 'score': 13.54}, {'connected_gene': 'ENSG00000252692', 'score': 11.91}, {'connected_gene': 'RPL7AP20', 'score': 11.76}, {'connected_gene': 'CTSE', 'score': 11.6}, {'connected_gene': 'ENSG00000226780', 'score': 10.69}, {'connected_gene': 'AVPR1B', 'score': 10.69}, {'connected_gene': 'SLC26A9', 'score': 10.08}, {'connected_gene': 'TMCC2', 'score': 9.89}, {'connected_gene': 'RBBP5', 'score': 9.77}, {'connected_gene': 'NUCKS1', 'score': 5.06}, {'connected_gene': 'PIR51502', 'score': 0.77}, {'connected_gene': 'GC01M206045', 'score': 0.77}]
chr1	GH01I206096	206096972	206099397	0.38	[{'connected_gene': 'CTSE', 'score': 11.67}, {'connected_gene': 'RAB29', 'score': 9.22}, {'connected_gene': 'AVPR1B', 'score': 0.37}, {'connected_gene': 'ENSG00000252692', 'score': 0.37}, {'connected_gene': 'RHEX', 'score': 0.21}]
chr1	GH01I206095	206095912	206096800	0.2	[{'connected_gene': 'CTSE', 'score': 11.67}, {'connected_gene': 'ENSG00000226780', 'score': 11.31}, {'connected_gene': 'AVPR1B', 'score': 11.31}, {'connected_gene': 'RAB29', 'score': 9.24}, {'connected_gene': 'ENSG00000252692', 'score': 0.37}, {'connected_gene': 'RHEX', 'score': 0.22}]
chr1	GH01I206113	206113028	206113750	0.85	[{'connected_gene': 'CTSE', 'score': 11.22}, {'connected_gene': 'AVPR1B', 'score': 0.77}, {'connected_gene': 'ENSG00000252692', 'score': 0.29}]
chr1	GH01I205930	205930308	205931528	0.63	[{'connected_gene': 'PM20D1', 'score': 21.12}, {'connected_gene': 'ENSG00000226780', 'score': 10.4}, {'connected_gene': 'AVPR1B', 'score': 10.4}, {'connected_gene': 'RAB29', 'score': 9.97}, {'connected_gene': 'RNU6-418P', 'score': 8.9}, {'connected_gene': 'ELK4', 'score': 5.59}, {'connected_gene': 'LOC103021296', 'score': 0.77}, {'connected_gene': 'SLC26A9', 'score': 0.39}, {'connected_gene': 'LOC284581', 'score': 0.2}]
chr1	GH01I205925	205925427	205926603	0.91	[{'connected_gene': 'PM20D1', 'score': 10.66}, {'connected_gene': 'ENSG00000226780', 'score': 10.4}, {'connected_gene': 'AVPR1B', 'score': 10.4}, {'connected_gene': 'MFSD4A', 'score': 10.32}, {'connected_gene': 'CTSE', 'score': 10.11}, {'connected_gene': 'RAB29', 'score': 9.99}, {'connected_gene': 'RNU6-418P', 'score': 9.0}, {'connected_gene': 'SLC26A9', 'score': 5.61}, {'connected_gene': 'LOC103021296', 'score': 0.44}, {'connected_gene': 'LOC284581', 'score': 0.21}]
chr1	GH01I205913	205913633	205913782	0.63	[{'connected_gene': 'SLC26A9', 'score': 11.19}, {'connected_gene': 'RAB29', 'score': 10.95}, {'connected_gene': 'ENSG00000226780', 'score': 10.69}, {'connected_gene': 'AVPR1B', 'score': 10.69}, {'connected_gene': 'MFSD4A', 'score': 9.48}, {'connected_gene': 'LOC103021296', 'score': 0.34}, {'connected_gene': 'LOC284581', 'score': 0.23}]
chr1	GH01I205914	205914044	205916129	0.49	[{'connected_gene': 'SLC26A9', 'score': 12.16}, {'connected_gene': 'RAB29', 'score': 10.74}, {'connected_gene': 'ENSG00000226780', 'score': 10.54}, {'connected_gene': 'AVPR1B', 'score': 10.54}, {'connected_gene': 'MFSD4A', 'score': 9.86}, {'connected_gene': 'LOC103021296', 'score': 0.37}, {'connected_gene': 'LOC284581', 'score': 0.23}]
chr1	GH01I205919	205919000	205919600	1.18	[{'connected_gene': 'SLC26A9', 'score': 11.67}, {'connected_gene': 'ENSG00000226780', 'score': 10.54}, {'connected_gene': 'AVPR1B', 'score': 10.54}, {'connected_gene': 'RAB29', 'score': 10.51}, {'connected_gene': 'LOC103021296', 'score': 0.37}, {'connected_gene': 'LOC284581', 'score': 0.22}]
chr1	GH01I205920	205920200	205920600	0.4	[{'connected_gene': 'SLC26A9', 'score': 11.89}, {'connected_gene': 'SLC41A1', 'score': 10.96}, {'connected_gene': 'ENSG00000226780', 'score': 10.53}, {'connected_gene': 'AVPR1B', 'score': 10.53}, {'connected_gene': 'RAB29', 'score': 10.05}, {'connected_gene': 'LOC103021296', 'score': 0.39}, {'connected_gene': 'LOC284581', 'score': 0.22}]
chr1	GH01I205921	205920763	205921437	0.38	[{'connected_gene': 'SLC26A9', 'score': 11.89}, {'connected_gene': 'SLC41A1', 'score': 10.96}, {'connected_gene': 'ENSG00000226780', 'score': 10.53}, {'connected_gene': 'AVPR1B', 'score': 10.53}, {'connected_gene': 'RAB29', 'score': 10.05}, {'connected_gene': 'LOC103021296', 'score': 0.39}, {'connected_gene': 'LOC284581', 'score': 0.22}]
chr1	GH01I205932	205932527	205935403	1.15	[{'connected_gene': 'LOC103021296', 'score': 550.77}, {'connected_gene': 'PM20D1', 'score': 10.65}, {'connected_gene': 'ENSG00000226780', 'score': 10.4}, {'connected_gene': 'AVPR1B', 'score': 10.4}, {'connected_gene': 'RAB29', 'score': 9.97}, {'connected_gene': 'RNU6-418P', 'score': 8.9}, {'connected_gene': 'ELK4', 'score': 5.39}, {'connected_gene': 'SLC26A9', 'score': 0.44}, {'connected_gene': 'LOC284581', 'score': 0.19}]
chr1	GH01I206082	206082460	206086786	0.62	[{'connected_gene': 'ENSG00000252692', 'score': 0.77}, {'connected_gene': 'AVPR1B', 'score': 0.29}, {'connected_gene': 'RHEX', 'score': 0.25}]
chr1	GH01I206086	206086943	206088500	0.31	[{'connected_gene': 'ENSG00000252692', 'score': 0.44}, {'connected_gene': 'AVPR1B', 'score': 0.31}, {'connected_gene': 'RHEX', 'score': 0.23}]
chr1	GH01I206090	206090448	206093406	0.31	[{'connected_gene': 'ENSG00000226780', 'score': 11.29}, {'connected_gene': 'AVPR1B', 'score': 11.29}, {'connected_gene': 'CTSE', 'score': 10.98}, {'connected_gene': 'ENSG00000252692', 'score': 0.39}, {'connected_gene': 'RHEX', 'score': 0.23}]
chr1	GH01I206030	206030758	206031007	1.1	[{'connected_gene': 'ENSG00000226780', 'score': 11.19}, {'connected_gene': 'AVPR1B', 'score': 11.19}, {'connected_gene': 'CTSE', 'score': 0.44}, {'connected_gene': 'RHEX', 'score': 0.44}]
chr1	GH01I205923	205923745	205924569	0.43	[{'connected_gene': 'ENSG00000226780', 'score': 10.24}, {'connected_gene': 'AVPR1B', 'score': 10.24}, {'connected_gene': 'PM20D1', 'score': 10.02}, {'connected_gene': 'RAB29', 'score': 10.0}, {'connected_gene': 'CTSE', 'score': 9.92}, {'connected_gene': 'MFSD4A', 'score': 9.13}, {'connected_gene': 'LOC103021296', 'score': 0.39}, {'connected_gene': 'SLC26A9', 'score': 0.37}, {'connected_gene': 'LOC284581', 'score': 0.21}]
chr1	GH01I206116	206116270	206118193	1.48	[{'connected_gene': 'ENSG00000226780', 'score': 550.77}, {'connected_gene': 'AVPR1B', 'score': 550.77}, {'connected_gene': 'ENSG00000252692', 'score': 0.28}]
chr1	GH01I206079	206079870	206080784	0.99	[{'connected_gene': 'ENSG00000252692', 'score': 550.77}, {'connected_gene': 'GC01P206081', 'score': 550.77}, {'connected_gene': 'RHEX', 'score': 4.72}, {'connected_gene': 'AVPR1B', 'score': 0.28}]
chr1	GH01I206106	206106401	206106830	1.15	[{'connected_gene': 'ENSG00000252692', 'score': 12.39}, {'connected_gene': 'CTSE', 'score': 11.86}, {'connected_gene': 'NUCKS1', 'score': 9.97}, {'connected_gene': 'IKBKE', 'score': 9.47}, {'connected_gene': 'RAB29', 'score': 9.4}, {'connected_gene': 'AVPR1B', 'score': 0.39}]
chr1	GH01I206102	206102001	206102681	0.77	[{'connected_gene': 'ENSG00000252692', 'score': 12.82}, {'connected_gene': 'CTSE', 'score': 11.37}, {'connected_gene': 'AVPR1B', 'score': 0.37}, {'connected_gene': 'RHEX', 'score': 0.2}]