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
ENST00000486921	[[215179117, 215179298], [215259710, 215260021], [215342541, 215342702], [215345339, 215345526], [215368295, 215368435], [215408170, 215408522], [215409033, 215409584]]	[[215179264, 215179298], [215259710, 215260021], [215342541, 215342655]]
ENST00000467031	[[215179192, 215179298], [215259710, 215260021], [215297975, 215298093], [215342541, 215342702], [215368295, 215368435], [215408170, 215408534]]	[[215179264, 215179298], [215259710, 215260021], [215297975, 215298093], [215342541, 215342702], [215368295, 215368358]]
ENST00000391895	[[215179197, 215179298], [215259710, 215260021], [215297975, 215298093], [215342541, 215342702], [215345339, 215345526], [215368295, 215368435], [215408170, 215408562]]	[[215179264, 215179298], [215259710, 215260021], [215297975, 215298093], [215342541, 215342702], [215345339, 215345526], [215368295, 215368435], [215408170, 215408488]]
ENST00000391894	[[215256466, 215256650], [215259710, 215260021], [215297975, 215298093], [215342541, 215342702], [215345339, 215345526], [215368295, 215368435], [215408170, 215408560]]	[[215256649, 215256650], [215259710, 215260021], [215297975, 215298093], [215342541, 215342702], [215345339, 215345526], [215368295, 215368435], [215408170, 215408488]]
ENST00000470177	[[215256577, 215256774], [215259710, 215260021], [215342541, 215342702], [215345339, 215345526], [215368295, 215368400]]	[[215256728, 215256774], [215259710, 215260021], [215342541, 215342655]]
ENST00000474771	[[215256577, 215256650], [215259710, 215260021], [215297975, 215298093], [215342541, 215342702], [215368295, 215368435], [215408170, 215408497]]	[[215256649, 215256650], [215259710, 215260021], [215297975, 215298093], [215342541, 215342702], [215368295, 215368358]]
ENST00000444842	[[215256578, 215256774], [215259710, 215260021], [215297975, 215298093], [215342541, 215342702], [215345339, 215345526], [215368295, 215368435], [215408170, 215410436]]	[[215256728, 215256774], [215259710, 215260021], [215297975, 215298093], [215342541, 215342702], [215345339, 215345526], [215368295, 215368435], [215408170, 215408488]]
ENST00000478774	[[215255135, 215255204], [215255464, 215255485], [215259710, 215260021], [215297975, 215298093], [215342541, 215342588]]	[[215259832, 215260021], [215297975, 215298093], [215342541, 215342588]]
ENST00000457122	[[215256859, 215257007], [215259710, 215260021], [215297975, 215298093], [215342541, 215342608]]	[[215259832, 215260021], [215297975, 215298093], [215342541, 215342608]]
NM_001017424	[[215178884, 215179298], [215259710, 215260021], [215297975, 215298093], [215342541, 215342702], [215345339, 215345526], [215368295, 215368435], [215408170, 215410436]]	[[215179264, 215179298], [215259710, 215260021], [215297975, 215298093], [215342541, 215342702], [215345339, 215345526], [215368295, 215368435], [215408170, 215408488]]
NM_014217	[[215256559, 215256650], [215259710, 215260021], [215297975, 215298093], [215342541, 215342702], [215345339, 215345526], [215368295, 215368435], [215408170, 215410436]]	[[215256649, 215256650], [215259710, 215260021], [215297975, 215298093], [215342541, 215342702], [215345339, 215345526], [215368295, 215368435], [215408170, 215408488]]
NM_001017425	[[215256559, 215256774], [215259710, 215260021], [215297975, 215298093], [215342541, 215342702], [215345339, 215345526], [215368295, 215368435], [215408170, 215410436]]	[[215256728, 215256774], [215259710, 215260021], [215297975, 215298093], [215342541, 215342702], [215345339, 215345526], [215368295, 215368435], [215408170, 215408488]]

Promoter

Chrom	Start	End	Description
chr1	215178636	215178662	CAGE_peak_5_at_KCNK2_5end
chr1	215178669	215178685	CAGE_peak_13_at_KCNK2_5end
chr1	215178693	215178706	CAGE_peak_28_at_KCNK2_5end
chr1	215178726	215178743	CAGE_peak_24_at_KCNK2_5end
chr1	215178832	215178850	CAGE_peak_16_at_KCNK2_5end
chr1	215178858	215178873	CAGE_peak_17_at_KCNK2_5end
chr1	215178875	215178906	CAGE_peak_2_at_KCNK2_5end
chr1	215178908	215178935	CAGE_peak_3_at_KCNK2_5end
chr1	215178944	215178967	CAGE_peak_11_at_KCNK2_5end
chr1	215179028	215179060	CAGE_peak_9_at_KCNK2_5end
chr1	215179111	215179149	CAGE_peak_4_at_KCNK2_5end
chr1	215179154	215179167	CAGE_peak_12_at_KCNK2_5end
chr1	215179188	215179201	CAGE_peak_21_at_KCNK2_5end
chr1	215255138	215255149	CAGE_peak_22_at_KCNK2_5end
chr1	215256074	215256113	CAGE_peak_1_at_KCNK2_5end
chr1	215256114	215256128	CAGE_peak_7_at_KCNK2_5end
chr1	215256131	215256143	CAGE_peak_15_at_KCNK2_5end
chr1	215256229	215256253	CAGE_peak_8_at_KCNK2_5end
chr1	215256585	215256622	CAGE_peak_6_at_KCNK2_5end
chr1	215259568	215259573	CAGE_peak_25_at_KCNK2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I214470	214470995	214479323	1.35	[{'connected_gene': 'ABHD17AP3', 'score': 5.31}, {'connected_gene': 'PTPN14', 'score': 5.08}, {'connected_gene': 'KCNK2', 'score': 4.75}, {'connected_gene': 'GC01M214483', 'score': 0.44}, {'connected_gene': 'ENSG00000228470', 'score': 0.13}]
chr1	GH01I214480	214480068	214482282	0.38	[{'connected_gene': 'PTPN14', 'score': 16.85}, {'connected_gene': 'ABHD17AP3', 'score': 5.37}, {'connected_gene': 'KCNK2', 'score': 4.75}, {'connected_gene': 'GC01M214483', 'score': 0.77}, {'connected_gene': 'LOC643454', 'score': 0.77}, {'connected_gene': 'ENSG00000228470', 'score': 0.13}]
chr1	GH01I214450	214450580	214457359	1.14	[{'connected_gene': 'PTPN14', 'score': 16.57}, {'connected_gene': 'SMYD2', 'score': 5.34}, {'connected_gene': 'KCNK2', 'score': 4.76}, {'connected_gene': 'GC01M214483', 'score': 0.31}, {'connected_gene': 'ENSG00000228470', 'score': 0.15}]
chr1	GH01I214493	214493956	214496717	0.99	[{'connected_gene': 'PTPN14', 'score': 5.27}, {'connected_gene': 'KCNK2', 'score': 4.54}, {'connected_gene': 'LOC643454', 'score': 0.39}, {'connected_gene': 'KRT18P12', 'score': 0.28}]
chr1	GH01I214487	214487743	214490849	0.46	[{'connected_gene': 'KCNK2', 'score': 4.31}, {'connected_gene': 'LOC643454', 'score': 0.44}, {'connected_gene': 'KRT18P12', 'score': 0.26}, {'connected_gene': 'PTPN14', 'score': 0.21}]
chr1	GH01I214466	214466166	214467539	0.94	[{'connected_gene': 'KCNK2', 'score': 4.63}, {'connected_gene': 'GC01M214483', 'score': 0.37}, {'connected_gene': 'PTPN14', 'score': 0.17}, {'connected_gene': 'ENSG00000228470', 'score': 0.14}]
chr1	GH01I214402	214402705	214406463	1.11	[{'connected_gene': 'KCNK2', 'score': 5.0}, {'connected_gene': 'ENSG00000228470', 'score': 0.25}, {'connected_gene': 'GC01M214483', 'score': 0.18}, {'connected_gene': 'PTPN14', 'score': 0.11}]
chr1	GH01I214419	214419195	214423850	1.25	[{'connected_gene': 'KCNK2', 'score': 5.0}, {'connected_gene': 'GC01M214483', 'score': 0.21}, {'connected_gene': 'ENSG00000228470', 'score': 0.21}, {'connected_gene': 'PTPN14', 'score': 0.12}]
chr1	GH01I214838	214838268	214839072	0.42	[{'connected_gene': 'KCNK2', 'score': 4.76}, {'connected_gene': 'LOC105372916', 'score': 0.37}, {'connected_gene': 'GAPDHP24', 'score': 0.29}]
chr1	GH01I214833	214833304	214833549	0.74	[{'connected_gene': 'KCNK2', 'score': 3.58}, {'connected_gene': 'LOC105372916', 'score': 0.44}, {'connected_gene': 'GAPDHP24', 'score': 0.28}]
chr1	GH01I215052	215052818	215052967	0.2	[{'connected_gene': 'KCNK2', 'score': 10.27}, {'connected_gene': 'GC01M215002', 'score': 0.23}, {'connected_gene': 'GC01P215194', 'score': 0.11}]
chr1	GH01I215007	215007204	215008019	0.2	[{'connected_gene': 'KCNK2', 'score': 0.77}, {'connected_gene': 'GC01M215002', 'score': 0.77}, {'connected_gene': 'GC01P215194', 'score': 0.09}]
chr1	GH01I215001	215001251	215003159	0.93	[{'connected_gene': 'KCNK2', 'score': 550.77}, {'connected_gene': 'GC01M215002', 'score': 550.77}, {'connected_gene': 'ENSG00000223869', 'score': 0.22}]
chr1	GH01I215081	215081514	215082200	0.43	[{'connected_gene': 'KCNK2', 'score': 10.66}, {'connected_gene': 'GC01M215002', 'score': 0.18}, {'connected_gene': 'GC01P215194', 'score': 0.14}]
chr1	GH01I215051	215051860	215052223	0.22	[{'connected_gene': 'KCNK2', 'score': 10.29}, {'connected_gene': 'GC01M215002', 'score': 0.25}, {'connected_gene': 'GC01P215194', 'score': 0.11}]
chr1	GH01I215082	215082600	215083601	1.57	[{'connected_gene': 'KCNK2', 'score': 550.18}, {'connected_gene': 'GC01M215002', 'score': 0.18}, {'connected_gene': 'GC01P215194', 'score': 0.14}]
chr1	GH01I215022	215022102	215023587	0.8	[{'connected_gene': 'KCNK2', 'score': 6.04}, {'connected_gene': 'GC01M215002', 'score': 0.34}, {'connected_gene': 'GC01P215194', 'score': 0.09}]
chr1	GH01I215055	215055627	215055906	0.2	[{'connected_gene': 'KCNK2', 'score': 10.27}, {'connected_gene': 'GC01M215002', 'score': 0.23}, {'connected_gene': 'GC01P215194', 'score': 0.12}]
chr1	GH01I215057	215055458	215055607	0.2	[{'connected_gene': 'KCNK2', 'score': 10.27}, {'connected_gene': 'GC01M215002', 'score': 0.23}, {'connected_gene': 'GC01P215194', 'score': 0.12}]
chr1	GH01I215056	215056497	215056637	0.25	[{'connected_gene': 'KCNK2', 'score': 10.27}, {'connected_gene': 'GC01M215002', 'score': 0.23}, {'connected_gene': 'GC01P215194', 'score': 0.12}]
chr1	GH01I215003	215003812	215006736	1.49	[{'connected_gene': 'KCNK2', 'score': 550.77}, {'connected_gene': 'GC01M215002', 'score': 0.77}, {'connected_gene': 'GC01P215194', 'score': 0.09}]
chr1	GH01I215024	215024942	215025287	0.39	[{'connected_gene': 'KCNK2', 'score': 19.93}, {'connected_gene': 'GC01M215002', 'score': 0.34}, {'connected_gene': 'GC01P215194', 'score': 0.1}]
chr1	GH01I215018	215018678	215018807	0.58	[{'connected_gene': 'KCNK2', 'score': 6.06}, {'connected_gene': 'GC01M215002', 'score': 0.37}, {'connected_gene': 'GC01P215194', 'score': 0.1}]
chr1	GH01I214982	214982124	214984134	0.2	[{'connected_gene': 'KCNK2', 'score': 0.37}, {'connected_gene': 'ENSG00000223869', 'score': 0.26}]
chr1	GH01I214956	214956541	214959338	1.12	[{'connected_gene': 'KCNK2', 'score': 3.43}, {'connected_gene': 'ENSG00000223869', 'score': 0.39}]
chr1	GH01I214967	214967574	214968577	0.31	[{'connected_gene': 'KCNK2', 'score': 10.98}, {'connected_gene': 'ENSG00000223869', 'score': 0.34}]
chr1	GH01I214425	214425198	214431120	1.47	[{'connected_gene': 'CENPF', 'score': 10.45}, {'connected_gene': 'PTPN14', 'score': 6.05}, {'connected_gene': 'ABHD17AP3', 'score': 4.92}, {'connected_gene': 'SMYD2', 'score': 4.87}, {'connected_gene': 'PROX1', 'score': 4.24}, {'connected_gene': 'KCNK2', 'score': 4.16}, {'connected_gene': 'GC01M214483', 'score': 0.22}, {'connected_gene': 'ENSG00000228470', 'score': 0.19}]
chr1	GH01I214989	214989170	214992073	0.72	[{'connected_gene': 'CENPF', 'score': 5.43}, {'connected_gene': 'KCNK2', 'score': 0.39}, {'connected_gene': 'ENSG00000223869', 'score': 0.25}]
chr1	GH01I214901	214901216	214903798	0.52	[{'connected_gene': 'LOC105372915', 'score': 550.77}, {'connected_gene': 'KCNK2', 'score': 4.3}, {'connected_gene': 'ENSG00000223869', 'score': 0.26}]
chr1	GH01I215718	215718356	215718685	0.4	[{'connected_gene': 'ENSG00000229242', 'score': 10.14}, {'connected_gene': 'KCNK2', 'score': 4.3}, {'connected_gene': 'GC01P215715', 'score': 0.77}, {'connected_gene': 'GC01P215706', 'score': 0.37}, {'connected_gene': 'GC01P215703', 'score': 0.37}, {'connected_gene': 'GC01P215707', 'score': 0.37}, {'connected_gene': 'GC01P215704', 'score': 0.37}, {'connected_gene': 'GC01P215709', 'score': 0.37}, {'connected_gene': 'GC01P215705', 'score': 0.37}, {'connected_gene': 'GC01P215708', 'score': 0.37}, {'connected_gene': 'GC01P215702', 'score': 0.37}, {'connected_gene': 'USH2A', 'score': 0.03}]
chr1	GH01I215113	215113558	215115946	0.94	[{'connected_gene': 'GC01P215194', 'score': 0.18}, {'connected_gene': 'KCNK2', 'score': 0.14}, {'connected_gene': 'GC01M215002', 'score': 0.14}]