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
ENST00000397239	[[18224098, 18225961], [18226404, 18226473], [18236682, 18236831], [18237611, 18237747], [18249881, 18250070], [18255961, 18256082], [18256591, 18256686], [18258183, 18258293], [18258534, 18258636], [18264073, 18264227], [18264615, 18265054]]	[[18225949, 18225961], [18226404, 18226473], [18236682, 18236831], [18237611, 18237747], [18249881, 18250070], [18255961, 18256082], [18256591, 18256686], [18258183, 18258293], [18258534, 18258636], [18264073, 18264218]]
ENST00000505224	[[18225255, 18225315], [18225841, 18225961], [18226404, 18226473], [18236682, 18236831], [18237611, 18237747], [18249881, 18250070], [18255961, 18256082], [18256591, 18256686], [18258183, 18258262], [18258587, 18258636], [18264073, 18264227], [18264615, 18264766]]	[[18225949, 18225961], [18226404, 18226473], [18236682, 18236831], [18237611, 18237747], [18249881, 18250070], [18255961, 18256082], [18256591, 18256686], [18258183, 18258262], [18258587, 18258636], [18264073, 18264218]]
ENST00000244776	[[18225700, 18225961], [18226404, 18226473], [18236682, 18236831], [18237611, 18237747], [18249881, 18250070], [18255961, 18256082], [18256591, 18256686], [18258183, 18258293], [18264073, 18264227], [18264615, 18264772]]	[[18225949, 18225961], [18226404, 18226473], [18236682, 18236831], [18237611, 18237747], [18249881, 18250070], [18255961, 18256082], [18256591, 18256686], [18258183, 18258293], [18264073, 18264218]]
ENST00000507591	[[18226109, 18226473], [18236682, 18236831], [18237611, 18237747], [18249881, 18249971]]	[[18226377, 18226473], [18236682, 18236831], [18237611, 18237747], [18249881, 18249971]]
ENST00000515770	[[18236722, 18236831], [18237611, 18237747], [18244738, 18244834], [18249881, 18250070], [18255961, 18256082], [18256591, 18256670]]	[[18244738, 18244834], [18249881, 18250070], [18255961, 18256082], [18256591, 18256670]]
ENST00000512145	[[18237280, 18237747], [18249881, 18250070], [18255961, 18256082], [18256591, 18256605]]	None
ENST00000503715	[[18255966, 18256082], [18256591, 18256686], [18258183, 18258293], [18258534, 18258636], [18264615, 18264772]]	[[18255966, 18256082], [18256591, 18256686], [18258183, 18258293], [18258534, 18258580]]
ENST00000515742	[[18256603, 18256686], [18258183, 18258293], [18258534, 18258636], [18264073, 18264439]]	[[18256603, 18256686], [18258183, 18258293], [18258534, 18258636], [18264073, 18264233]]
NM_003472	[[18224399, 18225961], [18226404, 18226473], [18236682, 18236831], [18237611, 18237747], [18249881, 18250070], [18255961, 18256082], [18256591, 18256686], [18258183, 18258293], [18258534, 18258636], [18264073, 18264227], [18264615, 18264799]]	[[18225949, 18225961], [18226404, 18226473], [18236682, 18236831], [18237611, 18237747], [18249881, 18250070], [18255961, 18256082], [18256591, 18256686], [18258183, 18258293], [18258534, 18258636], [18264073, 18264218]]
NM_001134709	[[18224399, 18225961], [18226404, 18226473], [18236682, 18236831], [18237611, 18237747], [18249881, 18250070], [18255961, 18256082], [18256591, 18256686], [18258183, 18258293], [18264073, 18264227], [18264615, 18264799]]	[[18225949, 18225961], [18226404, 18226473], [18236682, 18236831], [18237611, 18237747], [18249881, 18250070], [18255961, 18256082], [18256591, 18256686], [18258183, 18258293], [18264073, 18264218]]

Promoter

Chrom	Start	End	Description
chr6	18249972	18250012	CAGE_peak_4_at_DEK_5end
chr6	18250013	18250025	CAGE_peak_10_at_DEK_5end
chr6	18250028	18250039	CAGE_peak_11_at_DEK_5end
chr6	18250057	18250076	CAGE_peak_12_at_DEK_5end
chr6	18256626	18256671	CAGE_peak_7_at_DEK_5end
chr6	18264406	18264490	CAGE_peak_2_at_DEK_5end
chr6	18264492	18264505	CAGE_peak_9_at_DEK_5end
chr6	18264659	18264671	CAGE_peak_6_at_DEK_5end
chr6	18264696	18264704	CAGE_peak_8_at_DEK_5end
chr6	18264706	18264794	CAGE_peak_1_at_DEK_5end
chr6	18264799	18264800	CAGE_peak_16_at_DEK_5end
chr6	18264961	18265017	CAGE_peak_3_at_DEK_5end
chr6	18265050	18265072	CAGE_peak_5_at_DEK_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I018584	18584639	18585812	1.18	[{'connected_gene': 'NUP153', 'score': 12.19}, {'connected_gene': 'DEK', 'score': 9.81}, {'connected_gene': 'MIR548A1', 'score': 0.39}, {'connected_gene': 'MIR548A1HG', 'score': 0.21}, {'connected_gene': 'LOC105374957', 'score': 0.09}]
chr6	GH06I018241	18241151	18243885	1.05	[{'connected_gene': 'NUP153', 'score': 13.44}, {'connected_gene': 'DEK', 'score': 12.96}, {'connected_gene': 'IMPDH1P9', 'score': 11.66}, {'connected_gene': 'LOC105374952', 'score': 10.01}, {'connected_gene': 'NHLRC1', 'score': 9.78}, {'connected_gene': 'KDM1B', 'score': 0.17}]
chr6	GH06I017583	17583563	17584939	1.02	[{'connected_gene': 'NUP153', 'score': 15.99}, {'connected_gene': 'DEK', 'score': 13.93}, {'connected_gene': 'LOC105374952', 'score': 12.42}, {'connected_gene': 'RNU6-190P', 'score': 11.77}, {'connected_gene': 'SUMO2P13', 'score': 0.77}, {'connected_gene': 'LOC102724591', 'score': 0.37}]
chr6	GH06I017903	17903601	17909999	1.44	[{'connected_gene': 'NUP153', 'score': 21.9}, {'connected_gene': 'KIF13A', 'score': 19.49}, {'connected_gene': 'LOC105374952', 'score': 15.92}, {'connected_gene': 'DEK', 'score': 13.66}, {'connected_gene': 'NHLRC1', 'score': 10.66}, {'connected_gene': 'GC06P017893', 'score': 0.39}, {'connected_gene': 'RPS12P12', 'score': 0.25}]
chr6	GH06I018501	18501002	18502503	0.72	[{'connected_gene': 'NUP153', 'score': 17.09}, {'connected_gene': 'LOC105374952', 'score': 13.39}, {'connected_gene': 'DEK', 'score': 12.08}, {'connected_gene': 'RNU6-263P', 'score': 11.25}, {'connected_gene': 'LOC105374955', 'score': 0.44}, {'connected_gene': 'MIR548A1HG', 'score': 0.34}]
chr6	GH06I017316	17316365	17320389	0.71	[{'connected_gene': 'NUP153', 'score': 16.82}, {'connected_gene': 'LOC105374952', 'score': 11.19}, {'connected_gene': 'DEK', 'score': 11.02}, {'connected_gene': 'GC06P017304', 'score': 0.39}, {'connected_gene': 'LOC100421092', 'score': 0.21}]
chr6	GH06I018259	18259670	18265857	2.52	[{'connected_gene': 'DEK', 'score': 575.62}, {'connected_gene': 'NUP153', 'score': 28.41}, {'connected_gene': 'LOC105374952', 'score': 25.45}, {'connected_gene': 'IMPDH1P9', 'score': 11.8}, {'connected_gene': 'RNF144B', 'score': 1.96}, {'connected_gene': 'GC06M018248', 'score': 0.34}, {'connected_gene': 'KDM1B', 'score': 0.14}]
chr6	GH06I018214	18214867	18217393	0.6	[{'connected_gene': 'DEK', 'score': 20.33}, {'connected_gene': 'NUP153', 'score': 15.89}, {'connected_gene': 'LOC105374952', 'score': 12.32}, {'connected_gene': 'RNU6-263P', 'score': 10.22}, {'connected_gene': 'IMPDH1P9', 'score': 6.49}, {'connected_gene': 'KDM1B', 'score': 0.21}]
chr6	GH06I018245	18245753	18247515	0.68	[{'connected_gene': 'DEK', 'score': 6.77}, {'connected_gene': 'RNF144B', 'score': 5.5}, {'connected_gene': 'KDM1B', 'score': 0.16}]
chr6	GH06I018412	18412600	18413200	0.4	[{'connected_gene': 'DEK', 'score': 4.44}, {'connected_gene': 'PIR42478', 'score': 0.44}, {'connected_gene': 'GC06P018451', 'score': 0.28}, {'connected_gene': 'RNF144B', 'score': 0.12}]
chr6	GH06I018226	18226340	18227419	0.46	[{'connected_gene': 'DEK', 'score': 10.91}, {'connected_gene': 'KDM1B', 'score': 0.19}]
chr6	GH06I018313	18313855	18314663	0.2	[{'connected_gene': 'DEK', 'score': 5.68}, {'connected_gene': 'PIR61433', 'score': 0.44}, {'connected_gene': 'RNU6-263P', 'score': 0.44}, {'connected_gene': 'RNF144B', 'score': 0.28}]
chr6	GH06I018160	18160530	18162179	0.63	[{'connected_gene': 'TPMT', 'score': 9.91}, {'connected_gene': 'NHLRC1', 'score': 9.13}, {'connected_gene': 'KDM1B', 'score': 0.44}, {'connected_gene': 'DEK', 'score': 0.15}]
chr6	GH06I018179	18179001	18180374	0.69	[{'connected_gene': 'TPMT', 'score': 9.98}, {'connected_gene': 'KDM1B', 'score': 6.37}, {'connected_gene': 'DEK', 'score': 0.17}]
chr6	GH06I018177	18177094	18178413	0.43	[{'connected_gene': 'TPMT', 'score': 6.53}, {'connected_gene': 'KDM1B', 'score': 6.3}, {'connected_gene': 'DEK', 'score': 0.17}]
chr6	GH06I018164	18164325	18168829	0.6	[{'connected_gene': 'NHLRC1', 'score': 17.5}, {'connected_gene': 'TPMT', 'score': 17.03}, {'connected_gene': 'KDM1B', 'score': 0.39}, {'connected_gene': 'DEK', 'score': 0.15}]
chr6	GH06I018191	18191016	18191949	0.2	[{'connected_gene': 'NHLRC1', 'score': 10.86}, {'connected_gene': 'TPMT', 'score': 6.24}, {'connected_gene': 'KDM1B', 'score': 0.28}, {'connected_gene': 'DEK', 'score': 0.19}]
chr6	GH06I018162	18162299	18163615	0.2	[{'connected_gene': 'NHLRC1', 'score': 10.8}, {'connected_gene': 'TPMT', 'score': 9.85}, {'connected_gene': 'KDM1B', 'score': 0.44}, {'connected_gene': 'DEK', 'score': 0.15}]
chr6	GH06I018184	18184607	18187201	0.92	[{'connected_gene': 'NHLRC1', 'score': 10.87}, {'connected_gene': 'TPMT', 'score': 10.08}, {'connected_gene': 'KDM1B', 'score': 0.29}, {'connected_gene': 'DEK', 'score': 0.18}]
chr6	GH06I018327	18327150	18331432	1.4	[{'connected_gene': 'RNF144B', 'score': 13.71}, {'connected_gene': 'DEK', 'score': 7.6}, {'connected_gene': 'KDM1B', 'score': 4.62}, {'connected_gene': 'KIF13A', 'score': 1.68}, {'connected_gene': 'PIR61433', 'score': 0.44}, {'connected_gene': 'GC06P018364', 'score': 0.29}, {'connected_gene': 'PIR39754', 'score': 0.29}]
chr6	GH06I018386	18386027	18391484	2.47	[{'connected_gene': 'RNF144B', 'score': 579.98}, {'connected_gene': 'RNU6-263P', 'score': 10.28}, {'connected_gene': 'DEK', 'score': 6.36}, {'connected_gene': 'IMPDH1P9', 'score': 6.21}, {'connected_gene': 'KDM1B', 'score': 4.25}, {'connected_gene': 'KIF13A', 'score': 3.7}, {'connected_gene': 'PIR43810', 'score': 0.39}]
chr6	GH06I018340	18340511	18344684	1.32	[{'connected_gene': 'RNF144B', 'score': 17.31}, {'connected_gene': 'RNU6-263P', 'score': 10.83}, {'connected_gene': 'DEK', 'score': 8.11}, {'connected_gene': 'IMPDH1P9', 'score': 4.97}, {'connected_gene': 'PIR61433', 'score': 0.34}, {'connected_gene': 'GC06P018364', 'score': 0.34}, {'connected_gene': 'PIR39754', 'score': 0.34}]
chr6	GH06I018369	18369344	18372780	0.49	[{'connected_gene': 'RNF144B', 'score': 21.04}, {'connected_gene': 'RNU6-263P', 'score': 9.83}, {'connected_gene': 'DEK', 'score': 5.77}, {'connected_gene': 'IMPDH1P9', 'score': 0.77}, {'connected_gene': 'PIR43810', 'score': 0.31}]
chr6	GH06I018346	18346159	18348842	0.71	[{'connected_gene': 'RNF144B', 'score': 18.58}, {'connected_gene': 'RNU6-263P', 'score': 11.13}, {'connected_gene': 'DEK', 'score': 7.96}, {'connected_gene': 'GC06P018364', 'score': 0.37}, {'connected_gene': 'PIR39754', 'score': 0.37}, {'connected_gene': 'PIR61433', 'score': 0.31}]
chr6	GH06I018351	18351961	18353826	0.85	[{'connected_gene': 'RNF144B', 'score': 41.52}, {'connected_gene': 'RNU6-263P', 'score': 10.73}, {'connected_gene': 'DEK', 'score': 5.54}, {'connected_gene': 'GC06P018364', 'score': 0.39}, {'connected_gene': 'PIR39754', 'score': 0.39}, {'connected_gene': 'PIR61433', 'score': 0.29}]
chr6	GH06I018171	18171801	18172400	0.4	[{'connected_gene': 'KDM1B', 'score': 0.37}, {'connected_gene': 'DEK', 'score': 0.16}]
chr6	GH06I017580	17580201	17581199	0.72	[{'connected_gene': 'SUMO2P13', 'score': 550.77}, {'connected_gene': 'GC06P017580', 'score': 550.77}, {'connected_gene': 'NUP153', 'score': 15.6}, {'connected_gene': 'DEK', 'score': 13.34}, {'connected_gene': 'LOC105374952', 'score': 12.09}, {'connected_gene': 'FAM8A1', 'score': 5.45}]
chr6	GH06I018306	18306351	18309319	0.69	[{'connected_gene': 'RNU6-263P', 'score': 550.77}, {'connected_gene': 'GC06M018306', 'score': 550.77}, {'connected_gene': 'IMPDH1P9', 'score': 6.05}, {'connected_gene': 'DEK', 'score': 4.82}, {'connected_gene': 'PIR61433', 'score': 0.39}, {'connected_gene': 'RNF144B', 'score': 0.29}]
chr6	GH06I018415	18415058	18416922	0.46	[{'connected_gene': 'RNU6-263P', 'score': 10.24}, {'connected_gene': 'RNF144B', 'score': 9.37}, {'connected_gene': 'DEK', 'score': 5.03}, {'connected_gene': 'PIR42478', 'score': 0.44}, {'connected_gene': 'GC06P018451', 'score': 0.29}]
chr6	GH06I017439	17439328	17440887	0.54	[{'connected_gene': 'CAP2', 'score': 19.55}, {'connected_gene': 'LOC105374952', 'score': 12.36}, {'connected_gene': 'NUP153', 'score': 12.09}, {'connected_gene': 'DEK', 'score': 9.65}, {'connected_gene': 'LOC101928491', 'score': 0.19}]
chr6	GH06I018272	18272613	18273799	0.31	[{'connected_gene': 'ENSG00000199715', 'score': 550.77}, {'connected_gene': 'DEK', 'score': 8.89}, {'connected_gene': 'IMPDH1P9', 'score': 8.74}, {'connected_gene': 'GC06M018248', 'score': 0.39}]
chr6	GH06I018269	18269370	18269479	0.79	[{'connected_gene': 'ENSG00000199715', 'score': 0.77}, {'connected_gene': 'DEK', 'score': 0.77}, {'connected_gene': 'GC06M018248', 'score': 0.37}]
chr6	GH06I018361	18361675	18363062	0.89	[{'connected_gene': 'GC06P018364', 'score': 550.77}, {'connected_gene': 'PIR39754', 'score': 550.77}, {'connected_gene': 'RNF144B', 'score': 19.7}, {'connected_gene': 'DEK', 'score': 5.79}, {'connected_gene': 'FAM8A1', 'score': 5.14}, {'connected_gene': 'PIR61433', 'score': 0.26}]
chr6	GH06I018397	18397534	18398267	0.54	[{'connected_gene': 'PIR43810', 'score': 550.77}, {'connected_gene': 'RNF144B', 'score': 11.77}, {'connected_gene': 'DEK', 'score': 4.93}, {'connected_gene': 'IMPDH1P9', 'score': 0.31}]
chr6	GH06I018400	18400285	18401999	1.45	[{'connected_gene': 'PIR43810', 'score': 550.77}, {'connected_gene': 'RNF144B', 'score': 37.97}, {'connected_gene': 'KDM1B', 'score': 11.21}, {'connected_gene': 'DEK', 'score': 6.35}, {'connected_gene': 'KIF13A', 'score': 5.84}, {'connected_gene': 'PIR42478', 'score': 0.44}]