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
ENST00000341567	[[66386211, 66386448], [66406834, 66407011], [66409962, 66410248], [66413530, 66413681], [66415938, 66416122], [66418212, 66418356], [66420488, 66423538]]	[[66406852, 66407011], [66409962, 66410248], [66413530, 66413681], [66415938, 66416122], [66418212, 66418356], [66420488, 66420509]]
ENST00000607045	[[66386218, 66386448], [66387135, 66387233], [66406834, 66407011], [66409962, 66410147]]	[[66406852, 66407011], [66409962, 66410147]]
ENST00000433271	[[66386248, 66386448], [66406834, 66407011], [66409962, 66410248], [66413530, 66413681], [66418212, 66418356], [66420488, 66421140]]	[[66406852, 66407011], [66409962, 66410248], [66413530, 66413681], [66418212, 66418228]]
ENST00000413593	[[66386830, 66387233], [66406834, 66407011], [66409962, 66410019]]	[[66406852, 66407011], [66409962, 66410019]]
ENST00000424964	[[66395601, 66395701], [66406834, 66407011], [66409962, 66410221]]	[[66406852, 66407011], [66409962, 66410221]]
ENST00000418375	[[66395610, 66395855], [66406834, 66407011], [66409962, 66410085]]	[[66406852, 66407011], [66409962, 66410085]]
ENST00000484751	[[66410044, 66410248], [66413530, 66413681], [66415938, 66416322]]	None
NM_017994	[[66386202, 66386448], [66406834, 66407011], [66409962, 66410248], [66413530, 66413681], [66415938, 66416122], [66418212, 66418356], [66420488, 66423538]]	[[66406852, 66407011], [66409962, 66410248], [66413530, 66413681], [66415938, 66416122], [66418212, 66418356], [66420488, 66420509]]

Promoter

Chrom	Start	End	Description
chr7	66386204	66386249	CAGE_peak_1_at_C7orf42_5end
chr7	66386264	66386279	CAGE_peak_2_at_C7orf42_5end
chr7	66386294	66386305	CAGE_peak_3_at_C7orf42_5end
chr7	66386370	66386381	CAGE_peak_12_at_C7orf42_5end
chr7	66395596	66395607	CAGE_peak_20_at_C7orf42_5end
chr7	66406933	66406951	CAGE_peak_4_at_C7orf42_5end
chr7	66406981	66406991	CAGE_peak_5_at_C7orf42_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I066949	66949993	66953575	0.67	[{'connected_gene': 'LOC644794', 'score': 46.81}, {'connected_gene': 'RABGEF1', 'score': 14.89}, {'connected_gene': 'ENSG00000229180', 'score': 8.06}, {'connected_gene': 'RN7SL43P', 'score': 0.31}, {'connected_gene': 'TMEM248', 'score': 0.29}]
chr7	GH07I066972	66972034	66973637	0.49	[{'connected_gene': 'LOC644794', 'score': 25.45}, {'connected_gene': 'RN7SL43P', 'score': 0.44}, {'connected_gene': 'TMEM248', 'score': 0.23}]
chr7	GH07I066958	66958573	66959879	0.49	[{'connected_gene': 'LOC644794', 'score': 22.25}, {'connected_gene': 'RN7SL43P', 'score': 0.34}, {'connected_gene': 'TMEM248', 'score': 0.28}]
chr7	GH07I066993	66993555	66998001	2.28	[{'connected_gene': 'TYW1', 'score': 557.07}, {'connected_gene': 'SBDS', 'score': 550.77}, {'connected_gene': 'ENSG00000229180', 'score': 42.95}, {'connected_gene': 'LOC100420547', 'score': 32.31}, {'connected_gene': 'ENSG00000244657', 'score': 28.96}, {'connected_gene': 'SPDYE21P', 'score': 23.78}, {'connected_gene': 'TMEM248', 'score': 23.17}, {'connected_gene': 'RABGEF1', 'score': 14.66}, {'connected_gene': 'ENSG00000230189', 'score': 11.56}, {'connected_gene': 'STAG3L4', 'score': 11.24}, {'connected_gene': 'PMS2P4', 'score': 9.84}, {'connected_gene': 'GTF2IP9', 'score': 9.66}, {'connected_gene': 'LOC644794', 'score': 7.01}, {'connected_gene': 'LOC100996437', 'score': 6.27}, {'connected_gene': 'LINC00174', 'score': 4.32}, {'connected_gene': 'ENSG00000233383', 'score': 0.16}]
chr7	GH07I067019	67019465	67020228	0.79	[{'connected_gene': 'TYW1', 'score': 28.63}, {'connected_gene': 'LOC100420547', 'score': 20.14}, {'connected_gene': 'ENSG00000229180', 'score': 16.86}, {'connected_gene': 'ENSG00000273448', 'score': 12.56}, {'connected_gene': 'TMEM248', 'score': 12.32}, {'connected_gene': 'SBDS', 'score': 0.34}, {'connected_gene': 'ENSG00000233383', 'score': 0.2}]
chr7	GH07I066920	66920108	66923023	2.12	[{'connected_gene': 'TMEM248', 'score': 550.77}, {'connected_gene': 'LOC644794', 'score': 22.65}, {'connected_gene': 'RABGEF1', 'score': 15.66}, {'connected_gene': 'GC07P066873', 'score': 0.25}, {'connected_gene': 'RN7SL43P', 'score': 0.22}]
chr7	GH07I065980	65980233	65983160	2.1	[{'connected_gene': 'GUSB', 'score': 563.88}, {'connected_gene': 'ENSG00000229180', 'score': 14.49}, {'connected_gene': 'RABGEF1', 'score': 13.82}, {'connected_gene': 'LOC100420547', 'score': 10.79}, {'connected_gene': 'TMEM248', 'score': 10.04}, {'connected_gene': 'VKORC1L1', 'score': 8.48}, {'connected_gene': 'GC07P065962', 'score': 0.34}, {'connected_gene': 'PIR55112', 'score': 0.34}]
chr7	GH07I066974	66974969	66975595	0.64	[{'connected_gene': 'LINC00174', 'score': 7.14}, {'connected_gene': 'GUSB', 'score': 4.41}, {'connected_gene': 'LOC100996437', 'score': 4.17}, {'connected_gene': 'LOC644794', 'score': 3.97}, {'connected_gene': 'RN7SL43P', 'score': 0.77}, {'connected_gene': 'TMEM248', 'score': 0.23}]
chr7	GH07I066739	66739267	66743437	2.33	[{'connected_gene': 'RABGEF1', 'score': 582.03}, {'connected_gene': 'GC07P066740', 'score': 550.77}, {'connected_gene': 'ENSG00000272831', 'score': 550.77}, {'connected_gene': 'LOC100996437', 'score': 60.22}, {'connected_gene': 'KCTD7', 'score': 4.82}, {'connected_gene': 'TMEM248', 'score': 1.31}, {'connected_gene': 'ENSG00000271064', 'score': 0.44}]
chr7	GH07I066113	66113867	66116343	2.07	[{'connected_gene': 'CRCP', 'score': 550.77}, {'connected_gene': 'LOC100996437', 'score': 38.39}, {'connected_gene': 'VKORC1L1', 'score': 28.03}, {'connected_gene': 'GS1-124K5.4', 'score': 20.42}, {'connected_gene': 'LOC100420547', 'score': 17.35}, {'connected_gene': 'ENSG00000229180', 'score': 16.69}, {'connected_gene': 'TMEM248', 'score': 12.64}, {'connected_gene': 'CCT6P1', 'score': 12.07}, {'connected_gene': 'ENSG00000244657', 'score': 12.03}, {'connected_gene': 'GUSB', 'score': 12.02}, {'connected_gene': 'TPST1', 'score': 11.88}, {'connected_gene': 'ENSG00000230189', 'score': 11.59}, {'connected_gene': 'LOC84214', 'score': 9.77}, {'connected_gene': 'GTF2IP9', 'score': 9.69}, {'connected_gene': 'RABGEF1', 'score': 8.23}, {'connected_gene': 'PIR35862', 'score': 0.39}, {'connected_gene': 'GC07P066127', 'score': 0.39}, {'connected_gene': 'GC07P066131', 'score': 0.39}, {'connected_gene': 'GC07P066129', 'score': 0.39}, {'connected_gene': 'GC07P066128', 'score': 0.39}, {'connected_gene': 'ENSG00000249319', 'score': 0.31}]
chr7	GH07I065927	65927000	65928474	0.88	[{'connected_gene': 'VKORC1L1', 'score': 35.15}, {'connected_gene': 'TMEM248', 'score': 13.56}, {'connected_gene': 'LOC100420547', 'score': 11.93}, {'connected_gene': 'ENSG00000229180', 'score': 11.27}, {'connected_gene': 'GUSB', 'score': 11.09}, {'connected_gene': 'ERV3-1', 'score': 10.37}, {'connected_gene': 'GC07M065776', 'score': 0.31}, {'connected_gene': 'GC07P065961', 'score': 0.31}, {'connected_gene': 'PIR33872', 'score': 0.31}, {'connected_gene': 'LOC105375335', 'score': 0.21}]
chr7	GH07I066978	66978828	66980104	0.31	[{'connected_gene': 'RN7SL43P', 'score': 550.77}, {'connected_gene': 'LOC644794', 'score': 5.52}, {'connected_gene': 'LOC100996437', 'score': 4.99}, {'connected_gene': 'TMEM248', 'score': 0.22}]
chr7	GH07I066946	66946027	66948214	0.38	[{'connected_gene': 'LOC100996437', 'score': 29.22}, {'connected_gene': 'LOC644794', 'score': 17.18}, {'connected_gene': 'TMEM248', 'score': 13.08}, {'connected_gene': 'ENSG00000229180', 'score': 6.14}, {'connected_gene': 'RN7SL43P', 'score': 0.29}]
chr7	GH07I066098	66098593	66101200	1.2	[{'connected_gene': 'LOC100996437', 'score': 30.46}, {'connected_gene': 'LOC100420547', 'score': 29.79}, {'connected_gene': 'VKORC1L1', 'score': 27.6}, {'connected_gene': 'ENSG00000229180', 'score': 27.5}, {'connected_gene': 'TMEM248', 'score': 24.83}, {'connected_gene': 'CCT6P1', 'score': 22.41}, {'connected_gene': 'GUSB', 'score': 21.99}, {'connected_gene': 'GS1-124K5.4', 'score': 20.93}, {'connected_gene': 'TYW1', 'score': 15.93}, {'connected_gene': 'RABGEF1', 'score': 15.62}, {'connected_gene': 'ENSG00000244657', 'score': 12.03}, {'connected_gene': 'ENSG00000230189', 'score': 11.58}, {'connected_gene': 'RPL35P5', 'score': 10.27}, {'connected_gene': 'LOC84214', 'score': 9.77}, {'connected_gene': 'GTF2IP9', 'score': 9.69}, {'connected_gene': 'TPST1', 'score': 4.47}, {'connected_gene': 'ENSG00000249319', 'score': 0.39}, {'connected_gene': 'CRCP', 'score': 0.39}]
chr7	GH07I067359	67359850	67360990	0.8	[{'connected_gene': 'LOC100420547', 'score': 20.14}, {'connected_gene': 'ENSG00000229180', 'score': 16.84}, {'connected_gene': 'STAG3L4', 'score': 16.56}, {'connected_gene': 'TYW1', 'score': 13.04}, {'connected_gene': 'ENSG00000273448', 'score': 12.81}, {'connected_gene': 'TMEM248', 'score': 12.22}, {'connected_gene': 'GC07P067349', 'score': 0.39}, {'connected_gene': 'GC07P067381', 'score': 0.34}]
chr7	GH07I066930	66930394	66930563	0.92	[{'connected_gene': 'LOC100420547', 'score': 17.46}, {'connected_gene': 'ENSG00000229180', 'score': 17.09}, {'connected_gene': 'GUSB', 'score': 14.27}, {'connected_gene': 'TMEM248', 'score': 13.97}, {'connected_gene': 'TYW1', 'score': 12.99}, {'connected_gene': 'ENSG00000244657', 'score': 9.76}, {'connected_gene': 'RN7SL43P', 'score': 0.25}]
chr7	GH07I066847	66847657	66849179	0.81	[{'connected_gene': 'ENSG00000232546', 'score': 550.77}, {'connected_gene': 'GTF2IP23', 'score': 550.77}, {'connected_gene': 'GC07P066851', 'score': 550.77}, {'connected_gene': 'GC07P066850', 'score': 550.77}, {'connected_gene': 'PIR38356', 'score': 550.77}, {'connected_gene': 'LOC644794', 'score': 41.02}, {'connected_gene': 'LOC100420547', 'score': 20.16}, {'connected_gene': 'ENSG00000229180', 'score': 16.89}, {'connected_gene': 'RABGEF1', 'score': 15.69}, {'connected_gene': 'TYW1', 'score': 13.1}, {'connected_gene': 'ENSG00000273448', 'score': 12.54}, {'connected_gene': 'TMEM248', 'score': 12.36}, {'connected_gene': 'LINC00174', 'score': 12.06}, {'connected_gene': 'TPST1', 'score': 6.04}, {'connected_gene': 'STAG3L4', 'score': 4.09}]
chr7	GH07I066499	66499840	66500732	0.96	[{'connected_gene': 'GC07P066502', 'score': 550.77}, {'connected_gene': 'LOC100996437', 'score': 40.39}, {'connected_gene': 'VKORC1L1', 'score': 29.15}, {'connected_gene': 'LOC100420547', 'score': 20.5}, {'connected_gene': 'ENSG00000229180', 'score': 16.98}, {'connected_gene': 'CCT6P1', 'score': 16.97}, {'connected_gene': 'TYW1', 'score': 13.03}, {'connected_gene': 'ENSG00000273448', 'score': 12.53}, {'connected_gene': 'TMEM248', 'score': 12.22}, {'connected_gene': 'GC07P066497', 'score': 0.77}]