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
ENST00000302909	[[26915618, 26916026], [26950534, 26956288]]	[[26915743, 26916026], [26950534, 26951436]]
NM_002246	[[26915580, 26916026], [26950534, 26954066]]	[[26915743, 26916026], [26950534, 26951436]]

Promoter

Chrom	Start	End	Description
chr2	26915117	26915159	CAGE_peak_4_at_KCNK3_5end
chr2	26915553	26915583	CAGE_peak_2_at_KCNK3_5end
chr2	26915584	26915634	CAGE_peak_1_at_KCNK3_5end
chr2	26915639	26915654	CAGE_peak_3_at_KCNK3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I026754	26754513	26760305	1.75	[{'connected_gene': 'EIF2B4', 'score': 23.15}, {'connected_gene': 'GPN1', 'score': 20.06}, {'connected_gene': 'CAD', 'score': 15.87}, {'connected_gene': 'LOC105374363', 'score': 14.38}, {'connected_gene': 'GTF3C2', 'score': 11.98}, {'connected_gene': 'NRBP1', 'score': 11.96}, {'connected_gene': 'TMEM214', 'score': 11.87}, {'connected_gene': 'KCNK3', 'score': 11.31}, {'connected_gene': 'KHK', 'score': 10.9}, {'connected_gene': 'SUPT7L', 'score': 10.66}, {'connected_gene': 'ZNF512', 'score': 10.14}, {'connected_gene': 'ASXL2', 'score': 9.66}, {'connected_gene': 'SLC35F6', 'score': 1.75}, {'connected_gene': 'GC02P026705', 'score': 0.23}]
chr2	GH02I026749	26749452	26751095	1.13	[{'connected_gene': 'CAD', 'score': 15.87}, {'connected_gene': 'LOC105374363', 'score': 14.38}, {'connected_gene': 'EIF2B4', 'score': 14.21}, {'connected_gene': 'GTF3C2', 'score': 11.98}, {'connected_gene': 'TMEM214', 'score': 11.87}, {'connected_gene': 'KCNK3', 'score': 11.33}, {'connected_gene': 'GPN1', 'score': 10.93}, {'connected_gene': 'SUPT7L', 'score': 10.66}, {'connected_gene': 'ZNF512', 'score': 10.14}, {'connected_gene': 'DPYSL5', 'score': 9.43}, {'connected_gene': 'SLC35F6', 'score': 0.39}, {'connected_gene': 'GC02P026705', 'score': 0.26}]
chr2	GH02I026701	26701903	26702992	0.69	[{'connected_gene': 'CAD', 'score': 15.86}, {'connected_gene': 'LOC105374363', 'score': 14.39}, {'connected_gene': 'EIF2B4', 'score': 14.21}, {'connected_gene': 'GTF3C2', 'score': 11.98}, {'connected_gene': 'TMEM214', 'score': 11.87}, {'connected_gene': 'GPN1', 'score': 10.93}, {'connected_gene': 'SUPT7L', 'score': 10.66}, {'connected_gene': 'ZNF512', 'score': 10.14}, {'connected_gene': 'CENPA', 'score': 4.48}, {'connected_gene': 'GC02P026705', 'score': 0.77}, {'connected_gene': 'KCNK3', 'score': 0.44}]
chr2	GH02I026648	26648983	26654360	0.72	[{'connected_gene': 'CAD', 'score': 22.43}, {'connected_gene': 'LOC105374363', 'score': 15.32}, {'connected_gene': 'ZNF513', 'score': 15.2}, {'connected_gene': 'EIF2B4', 'score': 12.03}, {'connected_gene': 'GTF3C2-AS1', 'score': 11.96}, {'connected_gene': 'GTF3C2', 'score': 11.56}, {'connected_gene': 'KCNK3', 'score': 11.44}, {'connected_gene': 'ZNF512', 'score': 11.17}, {'connected_gene': 'IFT172', 'score': 10.88}, {'connected_gene': 'DPYSL5', 'score': 10.21}, {'connected_gene': 'ENSG00000235267', 'score': 9.71}, {'connected_gene': 'GC02P026658', 'score': 0.44}, {'connected_gene': 'CIB4', 'score': 0.39}]
chr2	GH02I026942	26942693	26942842	0.85	[{'connected_gene': 'DPYSL5', 'score': 11.92}, {'connected_gene': 'MAPRE3', 'score': 11.62}, {'connected_gene': 'LOC100129724', 'score': 11.5}, {'connected_gene': 'LOC105374337', 'score': 10.99}, {'connected_gene': 'EMILIN1', 'score': 10.04}, {'connected_gene': 'KHK', 'score': 10.0}, {'connected_gene': 'KCNK3', 'score': 9.63}, {'connected_gene': 'PIR42524', 'score': 0.28}]
chr2	GH02I026945	26945491	26948038	0.56	[{'connected_gene': 'KHK', 'score': 40.12}, {'connected_gene': 'DPYSL5', 'score': 11.92}, {'connected_gene': 'MAPRE3', 'score': 11.65}, {'connected_gene': 'LOC100129724', 'score': 11.52}, {'connected_gene': 'LOC105374337', 'score': 10.99}, {'connected_gene': 'EMILIN1', 'score': 10.04}, {'connected_gene': 'KCNK3', 'score': 9.63}, {'connected_gene': 'PIR42524', 'score': 0.26}]
chr2	GH02I026889	26889938	26894009	0.46	[{'connected_gene': 'KHK', 'score': 17.59}, {'connected_gene': 'GTF3C2', 'score': 12.12}, {'connected_gene': 'CAD', 'score': 12.06}, {'connected_gene': 'DPYSL5', 'score': 11.78}, {'connected_gene': 'GPN1', 'score': 11.18}, {'connected_gene': 'EIF2B4', 'score': 11.03}, {'connected_gene': 'MAPRE3', 'score': 10.58}, {'connected_gene': 'LOC100129724', 'score': 10.29}, {'connected_gene': 'LOC105374337', 'score': 10.21}, {'connected_gene': 'KCNK3', 'score': 9.94}, {'connected_gene': 'LOC105374363', 'score': 9.75}, {'connected_gene': 'AGBL5', 'score': 9.71}, {'connected_gene': 'AGBL5-AS1', 'score': 9.71}, {'connected_gene': 'PREB', 'score': 9.13}, {'connected_gene': 'PIR42524', 'score': 0.39}]
chr2	GH02I026734	26734940	26736687	1.27	[{'connected_gene': 'KCNK3', 'score': 12.1}, {'connected_gene': 'DPYSL5', 'score': 10.04}, {'connected_gene': 'MAPRE3', 'score': 9.14}, {'connected_gene': 'SLC35F6', 'score': 0.31}, {'connected_gene': 'GC02P026705', 'score': 0.29}]
chr2	GH02I026735	26734195	26734727	0.49	[{'connected_gene': 'KCNK3', 'score': 12.1}, {'connected_gene': 'DPYSL5', 'score': 10.04}, {'connected_gene': 'MAPRE3', 'score': 9.14}, {'connected_gene': 'KHK', 'score': 6.82}, {'connected_gene': 'GC02P026705', 'score': 0.31}, {'connected_gene': 'SLC35F6', 'score': 0.31}]
chr2	GH02I026736	26736883	26737492	0.56	[{'connected_gene': 'KCNK3', 'score': 12.1}, {'connected_gene': 'DPYSL5', 'score': 10.04}, {'connected_gene': 'MAPRE3', 'score': 9.14}, {'connected_gene': 'CENPA', 'score': 7.79}, {'connected_gene': 'SLC35F6', 'score': 0.31}, {'connected_gene': 'GC02P026705', 'score': 0.29}]
chr2	GH02I026655	26655933	26656062	0.2	[{'connected_gene': 'KCNK3', 'score': 11.46}, {'connected_gene': 'DPYSL5', 'score': 9.47}, {'connected_gene': 'GC02P026658', 'score': 0.77}, {'connected_gene': 'CIB4', 'score': 0.39}]
chr2	GH02I026737	26737705	26738592	0.52	[{'connected_gene': 'KCNK3', 'score': 12.09}, {'connected_gene': 'KHK', 'score': 10.33}, {'connected_gene': 'DPYSL5', 'score': 10.05}, {'connected_gene': 'MAPRE3', 'score': 9.14}, {'connected_gene': 'SLC35F6', 'score': 0.31}, {'connected_gene': 'GC02P026705', 'score': 0.29}]
chr2	GH02I026727	26727721	26729475	0.57	[{'connected_gene': 'KCNK3', 'score': 12.58}, {'connected_gene': 'MAPRE3', 'score': 9.38}, {'connected_gene': 'GC02P026705', 'score': 0.34}, {'connected_gene': 'SLC35F6', 'score': 0.28}]
chr2	GH02I026691	26691436	26693001	1.84	[{'connected_gene': 'KCNK3', 'score': 550.77}, {'connected_gene': 'CIB4', 'score': 5.67}, {'connected_gene': 'RPL37P11', 'score': 0.39}]
chr2	GH02I026729	26729759	26734070	0.63	[{'connected_gene': 'KCNK3', 'score': 12.58}, {'connected_gene': 'CENPA', 'score': 10.9}, {'connected_gene': 'DPYSL5', 'score': 10.03}, {'connected_gene': 'MAPRE3', 'score': 9.38}, {'connected_gene': 'KHK', 'score': 7.09}, {'connected_gene': 'GC02P026705', 'score': 0.31}, {'connected_gene': 'SLC35F6', 'score': 0.29}]
chr2	GH02I026562	26562169	26563462	1.5	[{'connected_gene': 'C2orf70', 'score': 550.77}, {'connected_gene': 'KCNK3', 'score': 10.42}, {'connected_gene': 'GC02P026627', 'score': 0.21}]
chr2	GH02I026689	26689621	26690150	0.2	[{'connected_gene': 'CIB4', 'score': 10.35}, {'connected_gene': 'DPYSL5', 'score': 9.09}, {'connected_gene': 'KCNK3', 'score': 0.77}, {'connected_gene': 'RPL37P11', 'score': 0.39}, {'connected_gene': 'GC02P026658', 'score': 0.29}]
chr2	GH02I026685	26685088	26688896	0.56	[{'connected_gene': 'CIB4', 'score': 15.93}, {'connected_gene': 'DPYSL5', 'score': 9.56}, {'connected_gene': 'MAPRE3', 'score': 9.53}, {'connected_gene': 'RPL37P11', 'score': 0.44}, {'connected_gene': 'KCNK3', 'score': 0.44}, {'connected_gene': 'GC02P026658', 'score': 0.31}]
chr2	GH02I026708	26708868	26711050	0.58	[{'connected_gene': 'CIB4', 'score': 6.13}, {'connected_gene': 'ENSG00000225378', 'score': 4.52}, {'connected_gene': 'GC02P026705', 'score': 0.77}, {'connected_gene': 'KCNK3', 'score': 0.37}, {'connected_gene': 'SLC35F6', 'score': 0.23}]
chr2	GH02I026609	26609202	26611027	0.57	[{'connected_gene': 'CIB4', 'score': 11.78}, {'connected_gene': 'KCNK3', 'score': 11.65}, {'connected_gene': 'C2orf70', 'score': 4.13}, {'connected_gene': 'GC02P026627', 'score': 0.37}]
chr2	GH02I026693	26693948	26698412	0.8	[{'connected_gene': 'CIB4', 'score': 5.75}, {'connected_gene': 'ENSG00000225378', 'score': 4.59}, {'connected_gene': 'KCNK3', 'score': 0.77}, {'connected_gene': 'GC02P026705', 'score': 0.44}]
chr2	GH02I026699	26699154	26701863	0.52	[{'connected_gene': 'CIB4', 'score': 5.74}, {'connected_gene': 'GC02P026705', 'score': 0.44}, {'connected_gene': 'KCNK3', 'score': 0.44}]
chr2	GH02I026717	26717182	26727327	1.91	[{'connected_gene': 'CENPA', 'score': 20.77}, {'connected_gene': 'EIF2B4', 'score': 20.39}, {'connected_gene': 'GPN1', 'score': 14.33}, {'connected_gene': 'GTF3C2', 'score': 14.08}, {'connected_gene': 'CAD', 'score': 13.17}, {'connected_gene': 'KCNK3', 'score': 12.61}, {'connected_gene': 'SLC35F6', 'score': 12.04}, {'connected_gene': 'GTF3C2-AS1', 'score': 11.2}, {'connected_gene': 'NRBP1', 'score': 10.94}, {'connected_gene': 'C2orf70', 'score': 10.85}, {'connected_gene': 'OTOF', 'score': 10.84}, {'connected_gene': 'ASXL2', 'score': 10.74}, {'connected_gene': 'MAPRE3', 'score': 9.38}, {'connected_gene': 'KHK', 'score': 6.89}, {'connected_gene': 'DPYSL5', 'score': 5.26}, {'connected_gene': 'HADHB', 'score': 4.66}, {'connected_gene': 'ADGRF3', 'score': 2.86}, {'connected_gene': 'HADHA', 'score': 2.5}, {'connected_gene': 'ATRAID', 'score': 1.31}, {'connected_gene': 'GC02P026705', 'score': 0.37}]
chr2	GH02I026713	26713893	26716309	0.46	[{'connected_gene': 'CENPA', 'score': 7.52}, {'connected_gene': 'KHK', 'score': 4.9}, {'connected_gene': 'GC02P026705', 'score': 0.44}, {'connected_gene': 'KCNK3', 'score': 0.34}, {'connected_gene': 'SLC35F6', 'score': 0.25}]
chr2	GH02I026711	26711981	26713364	0.77	[{'connected_gene': 'GC02P026705', 'score': 0.44}, {'connected_gene': 'KCNK3', 'score': 0.37}, {'connected_gene': 'SLC35F6', 'score': 0.23}]
chr2	GH02I026698	26698594	26698964	0.2	[{'connected_gene': 'GC02P026705', 'score': 0.44}, {'connected_gene': 'KCNK3', 'score': 0.44}]
chr2	GH02I026703	26703973	26708343	0.79	[{'connected_gene': 'GC02P026705', 'score': 550.77}, {'connected_gene': 'CIB4', 'score': 6.18}, {'connected_gene': 'KCNK3', 'score': 0.39}, {'connected_gene': 'SLC35F6', 'score': 0.22}]