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
ENST00000380842	[[29233240, 29233324], [29236546, 29236644], [29238645, 29238706], [29242609, 29242711], [29246475, 29246569], [29252171, 29253062]]	[[29233321, 29233324], [29236546, 29236644], [29238645, 29238706], [29242609, 29242711], [29246475, 29246569], [29252171, 29252239]]
ENST00000460403	[[29233240, 29233324], [29233958, 29234056], [29236546, 29236644], [29238645, 29238706], [29242609, 29242711], [29246475, 29246569], [29252171, 29253062]]	None
NM_015932	[[29233140, 29233324], [29236546, 29236644], [29238645, 29238706], [29242609, 29242711], [29246475, 29246569], [29252171, 29253094]]	[[29233321, 29233324], [29236546, 29236644], [29238645, 29238706], [29242609, 29242711], [29246475, 29246569], [29252171, 29252239]]

Promoter

Chrom	Start	End	Description
chr13	29233218	29233332	CAGE_peak_1_at_POMP_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I028699	28699098	28700477	0.66	[{'connected_gene': 'CYP51A1P2', 'score': 12.08}, {'connected_gene': 'POMP', 'score': 10.95}, {'connected_gene': 'SLC46A3', 'score': 8.37}, {'connected_gene': 'RNU6-53P', 'score': 0.77}, {'connected_gene': 'GC13M028704', 'score': 0.77}, {'connected_gene': 'PIR58876', 'score': 0.34}, {'connected_gene': 'GC13P028679', 'score': 0.34}]
chr13	GH13I028796	28796401	28797048	0.83	[{'connected_gene': 'CYP51A1P2', 'score': 11.39}, {'connected_gene': 'SLC46A3', 'score': 11.38}, {'connected_gene': 'POMP', 'score': 10.55}, {'connected_gene': 'POM121L13P', 'score': 0.37}, {'connected_gene': 'MTUS2', 'score': 0.34}]
chr13	GH13I028621	28621801	28622763	0.38	[{'connected_gene': 'POMP', 'score': 11.66}, {'connected_gene': 'GC13P028630', 'score': 0.44}, {'connected_gene': 'EIF4A1P7', 'score': 0.34}]
chr13	GH13I028623	28623001	28623200	0.2	[{'connected_gene': 'POMP', 'score': 11.66}, {'connected_gene': 'GC13P028630', 'score': 0.44}, {'connected_gene': 'EIF4A1P7', 'score': 0.34}]
chr13	GH13I028611	28611401	28612201	1.18	[{'connected_gene': 'POMP', 'score': 2.49}, {'connected_gene': 'EIF4A1P7', 'score': 0.39}, {'connected_gene': 'GC13P028630', 'score': 0.37}]
chr13	GH13I028315	28315709	28317318	0.56	[{'connected_gene': 'POMP', 'score': 10.71}, {'connected_gene': 'SLC46A3', 'score': 10.61}, {'connected_gene': 'CYP51A1P2', 'score': 10.61}, {'connected_gene': 'GC13P028308', 'score': 0.44}, {'connected_gene': 'GC13M028385', 'score': 0.19}, {'connected_gene': 'FLT1', 'score': 0.1}]
chr13	GH13I028318	28318216	28319227	0.38	[{'connected_gene': 'POMP', 'score': 10.71}, {'connected_gene': 'SLC46A3', 'score': 10.61}, {'connected_gene': 'CYP51A1P2', 'score': 10.61}, {'connected_gene': 'GC13P028308', 'score': 0.39}, {'connected_gene': 'GC13M028385', 'score': 0.2}, {'connected_gene': 'FLT1', 'score': 0.1}]
chr13	GH13I028624	28623958	28624600	0.73	[{'connected_gene': 'POMP', 'score': 13.74}, {'connected_gene': 'FLT1', 'score': 9.0}, {'connected_gene': 'GC13P028630', 'score': 0.44}, {'connected_gene': 'EIF4A1P7', 'score': 0.31}]
chr13	GH13I028324	28324304	28324800	1.09	[{'connected_gene': 'POMP', 'score': 11.29}, {'connected_gene': 'FLT1', 'score': 10.84}, {'connected_gene': 'GC13P028308', 'score': 0.37}, {'connected_gene': 'GC13M028385', 'score': 0.21}]
chr13	GH13I028475	28475621	28478053	0.99	[{'connected_gene': 'POMP', 'score': 10.84}, {'connected_gene': 'FLT1', 'score': 0.37}, {'connected_gene': 'GC13M028385', 'score': 0.17}]
chr13	GH13I028636	28636512	28638230	1.04	[{'connected_gene': 'POMP', 'score': 12.23}, {'connected_gene': 'FLT1', 'score': 11.3}, {'connected_gene': 'ENSG00000273964', 'score': 0.44}]
chr13	GH13I028478	28478197	28478353	0.31	[{'connected_gene': 'POMP', 'score': 10.84}, {'connected_gene': 'FLT1', 'score': 0.37}, {'connected_gene': 'GC13M028385', 'score': 0.16}]
chr13	GH13I028355	28355509	28358842	1.34	[{'connected_gene': 'POMP', 'score': 3.55}, {'connected_gene': 'GC13M028385', 'score': 0.29}, {'connected_gene': 'GC13P028308', 'score': 0.25}, {'connected_gene': 'FLT1', 'score': 0.12}]
chr13	GH13I028655	28655147	28660888	2.52	[{'connected_gene': 'POMP', 'score': 550.77}, {'connected_gene': 'ENSG00000273964', 'score': 0.31}]
chr13	GH13I028684	28684424	28684573	0.54	[{'connected_gene': 'SLC46A3', 'score': 12.17}, {'connected_gene': 'CYP51A1P2', 'score': 12.01}, {'connected_gene': 'POMP', 'score': 11.86}, {'connected_gene': 'PIR58876', 'score': 0.44}, {'connected_gene': 'GC13P028679', 'score': 0.44}, {'connected_gene': 'RNU6-53P', 'score': 0.37}, {'connected_gene': 'GC13M028704', 'score': 0.37}]
chr13	GH13I028715	28715150	28720936	2.45	[{'connected_gene': 'SLC46A3', 'score': 573.84}, {'connected_gene': 'POMP', 'score': 1.45}, {'connected_gene': 'CYP51A1P2', 'score': 0.44}, {'connected_gene': 'RNU6-53P', 'score': 0.39}, {'connected_gene': 'GC13M028704', 'score': 0.39}]
chr13	GH13I028794	28794083	28795329	0.54	[{'connected_gene': 'SLC46A3', 'score': 17.77}, {'connected_gene': 'POMP', 'score': 10.64}, {'connected_gene': 'POM121L13P', 'score': 0.37}, {'connected_gene': 'MTUS2', 'score': 0.31}]
chr13	GH13I028423	28422401	28423865	1.16	[{'connected_gene': 'PAN3', 'score': 1.73}, {'connected_gene': 'POMP', 'score': 1.67}, {'connected_gene': 'GC13M028385', 'score': 0.28}, {'connected_gene': 'FLT1', 'score': 0.19}]
chr13	GH13I028530	28530786	28533746	1.44	[{'connected_gene': 'PAN3', 'score': 36.64}, {'connected_gene': 'PAN3-AS1', 'score': 29.09}, {'connected_gene': 'FLT1', 'score': 12.65}, {'connected_gene': 'POMP', 'score': 10.44}, {'connected_gene': 'POLR1D', 'score': 10.26}, {'connected_gene': 'EEF1A1P3', 'score': 10.23}, {'connected_gene': 'ENSG00000279393', 'score': 0.28}, {'connected_gene': 'LOC105370135', 'score': 0.26}]
chr13	GH13I028584	28584734	28586015	0.92	[{'connected_gene': 'FLT1', 'score': 11.13}, {'connected_gene': 'POMP', 'score': 1.67}, {'connected_gene': 'EIF4A1P7', 'score': 0.39}, {'connected_gene': 'LOC105370135', 'score': 0.39}]
chr13	GH13I028586	28586764	28586913	0.46	[{'connected_gene': 'FLT1', 'score': 11.35}, {'connected_gene': 'POMP', 'score': 11.0}, {'connected_gene': 'EIF4A1P7', 'score': 0.39}, {'connected_gene': 'LOC105370135', 'score': 0.39}]
chr13	GH13I028523	28523891	28524285	0.98	[{'connected_gene': 'FLT1', 'score': 12.56}, {'connected_gene': 'POMP', 'score': 10.6}, {'connected_gene': 'PAN3', 'score': 1.17}, {'connected_gene': 'ENSG00000279393', 'score': 0.31}, {'connected_gene': 'LOC105370135', 'score': 0.23}]
chr13	GH13I028391	28391573	28395309	1.15	[{'connected_gene': 'FLT1', 'score': 11.45}, {'connected_gene': 'POMP', 'score': 10.93}, {'connected_gene': 'PAN3', 'score': 1.4}, {'connected_gene': 'GC13M028385', 'score': 0.44}]
chr13	GH13I028582	28582684	28582876	1	[{'connected_gene': 'FLT1', 'score': 11.14}, {'connected_gene': 'POMP', 'score': 1.32}, {'connected_gene': 'LOC105370135', 'score': 0.44}, {'connected_gene': 'EIF4A1P7', 'score': 0.37}]
chr13	GH13I028540	28540711	28540873	0.66	[{'connected_gene': 'FLT1', 'score': 11.68}, {'connected_gene': 'POMP', 'score': 11.06}, {'connected_gene': 'LOC105370135', 'score': 0.29}, {'connected_gene': 'ENSG00000279393', 'score': 0.25}]
chr13	GH13I028567	28567001	28570644	0.89	[{'connected_gene': 'FLT1', 'score': 11.85}, {'connected_gene': 'POMP', 'score': 10.49}, {'connected_gene': 'LOC105370135', 'score': 0.44}, {'connected_gene': 'ENSG00000279393', 'score': 0.19}]
chr13	GH13I028527	28527401	28528200	0.77	[{'connected_gene': 'FLT1', 'score': 12.42}, {'connected_gene': 'POMP', 'score': 10.2}, {'connected_gene': 'ENSG00000279393', 'score': 0.29}, {'connected_gene': 'LOC105370135', 'score': 0.25}]
chr13	GH13I028328	28328776	28330400	0.89	[{'connected_gene': 'FLT1', 'score': 11.32}, {'connected_gene': 'POMP', 'score': 10.79}, {'connected_gene': 'GC13P028308', 'score': 0.34}, {'connected_gene': 'GC13M028385', 'score': 0.22}]
chr13	GH13I028327	28327465	28328575	0.81	[{'connected_gene': 'FLT1', 'score': 11.32}, {'connected_gene': 'POMP', 'score': 10.8}, {'connected_gene': 'GC13P028308', 'score': 0.37}, {'connected_gene': 'GC13M028385', 'score': 0.22}]
chr13	GH13I028397	28397084	28397233	0.51	[{'connected_gene': 'FLT1', 'score': 10.93}, {'connected_gene': 'POMP', 'score': 10.2}, {'connected_gene': 'GC13M028385', 'score': 0.44}]
chr13	GH13I028396	28396924	28397073	0.4	[{'connected_gene': 'FLT1', 'score': 11.46}, {'connected_gene': 'POMP', 'score': 10.93}, {'connected_gene': 'GC13M028385', 'score': 0.44}]
chr13	GH13I028573	28573676	28575873	1.48	[{'connected_gene': 'LOC105370135', 'score': 550.77}, {'connected_gene': 'POMP', 'score': 13.52}, {'connected_gene': 'FLT1', 'score': 11.84}, {'connected_gene': 'PAN3', 'score': 4.51}, {'connected_gene': 'ENSG00000279393', 'score': 0.18}]
chr13	GH13I028728	28728404	28730708	0.89	[{'connected_gene': 'RNU6-53P', 'score': 12.49}, {'connected_gene': 'SLC46A3', 'score': 11.7}, {'connected_gene': 'POMP', 'score': 10.15}, {'connected_gene': 'CYP51A1P2', 'score': 0.44}, {'connected_gene': 'ENSG00000277227', 'score': 0.25}]
chr13	GH13I028640	28640511	28642253	0.94	[{'connected_gene': 'RNU6-53P', 'score': 10.92}, {'connected_gene': 'SLC46A3', 'score': 10.89}, {'connected_gene': 'ENSG00000273964', 'score': 0.39}, {'connected_gene': 'POMP', 'score': 0.37}]
chr13	GH13I028294	28294315	28294517	0.4	[{'connected_gene': 'GC13M028296', 'score': 550.77}, {'connected_gene': 'POMP', 'score': 10.12}, {'connected_gene': 'GC13P028239', 'score': 0.23}, {'connected_gene': 'PAN3', 'score': 0.1}]
chr13	GH13I028671	28671001	28671200	0.2	[{'connected_gene': 'PIR58876', 'score': 0.44}, {'connected_gene': 'GC13P028679', 'score': 0.44}, {'connected_gene': 'POMP', 'score': 0.39}]
chr13	GH13I028672	28671401	28672000	0.2	[{'connected_gene': 'PIR58876', 'score': 0.44}, {'connected_gene': 'GC13P028679', 'score': 0.44}, {'connected_gene': 'POMP', 'score': 0.39}]
chr13	GH13I028387	28387702	28388861	0.2	[{'connected_gene': 'GC13M028385', 'score': 550.77}, {'connected_gene': 'FLT1', 'score': 11.44}, {'connected_gene': 'POMP', 'score': 10.93}]