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
ENST00000432176	[[22980877, 22985782], [22999874, 23000034], [23000853, 23000941], [23004033, 23004150], [23015828, 23015924], [23016311, 23016427], [23016959, 23017040], [23017887, 23018067], [23023562, 23023664], [23030679, 23030758], [23053543, 23053748]]	[[22985207, 22985782], [22999874, 23000034], [23000853, 23000941], [23004033, 23004150], [23015828, 23015924], [23016311, 23016427], [23016959, 23017040], [23017887, 23018067], [23023562, 23023664], [23030679, 23030730]]
ENST00000440481	[[22980887, 22985782], [22986570, 22986866], [22999874, 23000034], [23000853, 23000941], [23004033, 23004150], [23015828, 23015924], [23016311, 23016427], [23016959, 23017040], [23017887, 23018067], [23023562, 23023664], [23053543, 23053749]]	[[22986597, 22986866], [22999874, 23000034], [23000853, 23000941], [23004033, 23004150], [23015828, 23015924], [23016311, 23016427], [23016959, 23017040], [23017887, 23018067], [23023562, 23023664], [23053543, 23053749]]
ENST00000409923	[[22984127, 22985782], [22986570, 22986866], [22999874, 23000034], [23000853, 23000941], [23004033, 23004150], [23015828, 23015924], [23016311, 23016427], [23016959, 23017040], [23017887, 23018067], [23023562, 23023664], [23030679, 23030758], [23053543, 23053703]]	[[22986597, 22986866], [22999874, 23000034], [23000853, 23000941], [23004033, 23004150], [23015828, 23015924], [23016311, 23016427], [23016959, 23017040], [23017887, 23018067], [23023562, 23023664], [23030679, 23030730]]
ENST00000498833	[[22985601, 22985782], [22986651, 22986866], [22999874, 23000034], [23000853, 23000935]]	None
ENST00000477349	[[23016387, 23016427], [23016959, 23017040], [23017887, 23018067], [23030679, 23030758], [23053543, 23053707]]	None
ENST00000409763	[[23017782, 23018067], [23023562, 23023664], [23030679, 23030758], [23053543, 23053693]]	[[23017875, 23018067], [23023562, 23023664], [23030679, 23030730]]
ENST00000467005	[[23023368, 23023664], [23030679, 23030758], [23053543, 23053710]]	None
ENST00000465661	[[23023612, 23023664], [23025166, 23025354], [23030679, 23030758], [23053543, 23053749]]	None
NM_032581	[[22980877, 22985782], [22999874, 23000034], [23000853, 23000941], [23004033, 23004150], [23015828, 23015924], [23016311, 23016427], [23016959, 23017040], [23017887, 23018067], [23023562, 23023664], [23030679, 23030758], [23053543, 23053770]]	[[22985207, 22985782], [22999874, 23000034], [23000853, 23000941], [23004033, 23004150], [23015828, 23015924], [23016311, 23016427], [23016959, 23017040], [23017887, 23018067], [23023562, 23023664], [23030679, 23030730]]

Promoter

Chrom	Start	End	Description
chr7	23053697	23053715	CAGE_peak_2_at_FAM126A_5end
chr7	23053719	23053767	CAGE_peak_1_at_FAM126A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I023062	23062572	23062949	0.88	[{'connected_gene': 'FAM126A', 'score': 10.86}, {'connected_gene': 'TOMM7', 'score': 10.71}, {'connected_gene': 'ENSG00000226329', 'score': 6.12}, {'connected_gene': 'LOC541472', 'score': 4.59}, {'connected_gene': 'GPNMB', 'score': 4.23}, {'connected_gene': 'LOC105375186', 'score': 0.28}, {'connected_gene': 'LOC105375185', 'score': 0.26}]
chr7	GH07I023017	23017001	23017800	0.6	[{'connected_gene': 'FAM126A', 'score': 14.37}, {'connected_gene': 'TOMM7', 'score': 5.3}, {'connected_gene': 'SNHG26', 'score': 4.63}, {'connected_gene': 'LOC105375185', 'score': 0.77}]
chr7	GH07I023067	23067302	23067491	0.31	[{'connected_gene': 'FAM126A', 'score': 16.17}, {'connected_gene': 'TOMM7', 'score': 10.71}, {'connected_gene': 'LOC105375186', 'score': 0.29}, {'connected_gene': 'LOC105375185', 'score': 0.25}]
chr7	GH07I022988	22988249	22991283	0.52	[{'connected_gene': 'FAM126A', 'score': 25.63}, {'connected_gene': 'TOMM7', 'score': 17.52}, {'connected_gene': 'ENSG00000226329', 'score': 6.37}, {'connected_gene': 'GPNMB', 'score': 5.22}, {'connected_gene': 'PIR51294', 'score': 0.18}]
chr7	GH07I022952	22952408	22952551	0.2	[{'connected_gene': 'FAM126A', 'score': 11.16}, {'connected_gene': 'TOMM7', 'score': 4.94}, {'connected_gene': 'PIR51294', 'score': 0.26}]
chr7	GH07I022943	22943642	22946127	0.38	[{'connected_gene': 'FAM126A', 'score': 23.26}, {'connected_gene': 'TOMM7', 'score': 7.98}, {'connected_gene': 'PIR51294', 'score': 0.28}]
chr7	GH07I023055	23055722	23056000	0.94	[{'connected_gene': 'FAM126A', 'score': 11.55}, {'connected_gene': 'IL6', 'score': 10.66}, {'connected_gene': 'LOC541472', 'score': 10.66}, {'connected_gene': 'LOC105375185', 'score': 0.29}, {'connected_gene': 'LOC105375186', 'score': 0.26}]
chr7	GH07I023011	23011589	23014941	2	[{'connected_gene': 'FAM126A', 'score': 565.68}, {'connected_gene': 'CLK2P1', 'score': 21.68}, {'connected_gene': 'CCDC126', 'score': 15.67}, {'connected_gene': 'TOMM7', 'score': 6.78}, {'connected_gene': 'LOC541472', 'score': 6.75}, {'connected_gene': 'ENSG00000226329', 'score': 5.37}, {'connected_gene': 'PIR51294', 'score': 0.15}]
chr7	GH07I022884	22884761	22886632	1.03	[{'connected_gene': 'FAM126A', 'score': 18.74}, {'connected_gene': 'SNHG26', 'score': 7.84}, {'connected_gene': 'ENSG00000226329', 'score': 7.67}, {'connected_gene': 'GC07P022881', 'score': 0.77}, {'connected_gene': 'PIR51294', 'score': 0.34}]
chr7	GH07I023086	23086122	23086291	0.79	[{'connected_gene': 'FAM126A', 'score': 10.91}, {'connected_gene': 'LOC105375186', 'score': 0.39}, {'connected_gene': 'LOC105375185', 'score': 0.21}]
chr7	GH07I022979	22979274	22981288	0.72	[{'connected_gene': 'FAM126A', 'score': 25.08}, {'connected_gene': 'PIR51294', 'score': 0.19}]
chr7	GH07I023004	23004382	23004531	0.31	[{'connected_gene': 'FAM126A', 'score': 0.44}, {'connected_gene': 'PIR51294', 'score': 0.16}]
chr7	GH07I022942	22942017	22942745	0.2	[{'connected_gene': 'FAM126A', 'score': 22.97}, {'connected_gene': 'PIR51294', 'score': 0.29}]
chr7	GH07I022996	22996586	22996645	0.5	[{'connected_gene': 'FAM126A', 'score': 550.37}, {'connected_gene': 'PIR51294', 'score': 0.17}]
chr7	GH07I022852	22852408	22861336	2.24	[{'connected_gene': 'SNORD93', 'score': 550.77}, {'connected_gene': 'GC07P022859', 'score': 550.77}, {'connected_gene': 'TOMM7', 'score': 34.51}, {'connected_gene': 'SNHG26', 'score': 30.09}, {'connected_gene': 'FAM126A', 'score': 10.71}, {'connected_gene': 'LOC541472', 'score': 9.75}, {'connected_gene': 'IL6', 'score': 9.74}, {'connected_gene': 'ENSG00000226329', 'score': 7.95}, {'connected_gene': 'STEAP1B', 'score': 1.52}, {'connected_gene': 'GC07P022853', 'score': 0.77}]
chr7	GH07I022896	22896482	22897352	0.72	[{'connected_gene': 'TOMM7', 'score': 9.61}, {'connected_gene': 'PIR51294', 'score': 0.39}, {'connected_gene': 'GC07P022881', 'score': 0.37}, {'connected_gene': 'FAM126A', 'score': 0.13}]
chr7	GH07I022934	22934047	22935611	0.4	[{'connected_gene': 'TOMM7', 'score': 11.08}, {'connected_gene': 'FAM126A', 'score': 10.88}, {'connected_gene': 'PIR51294', 'score': 0.31}]
chr7	GH07I022841	22841502	22844322	0.69	[{'connected_gene': 'TOMM7', 'score': 19.87}, {'connected_gene': 'SNHG26', 'score': 15.49}, {'connected_gene': 'FAM126A', 'score': 4.63}, {'connected_gene': 'GC07P022837', 'score': 0.44}, {'connected_gene': 'GC07P022853', 'score': 0.39}]
chr7	GH07I022809	22809424	22812898	0.49	[{'connected_gene': 'TOMM7', 'score': 59.24}, {'connected_gene': 'SNHG26', 'score': 15.92}, {'connected_gene': 'FAM126A', 'score': 4.24}, {'connected_gene': 'PIR54491', 'score': 0.39}]
chr7	GH07I022819	22819721	22823838	2.04	[{'connected_gene': 'TOMM7', 'score': 610.34}, {'connected_gene': 'GC07P022823', 'score': 550.77}, {'connected_gene': 'SNHG26', 'score': 15.92}, {'connected_gene': 'EEF1A1P6', 'score': 11.71}, {'connected_gene': 'TRA2A', 'score': 9.8}, {'connected_gene': 'FAM126A', 'score': 4.79}, {'connected_gene': 'PIR54491', 'score': 0.34}]
chr7	GH07I022730	22730205	22731781	0.71	[{'connected_gene': 'LOC541472', 'score': 38.5}, {'connected_gene': 'FAM126A', 'score': 9.73}, {'connected_gene': 'IL6', 'score': 0.44}, {'connected_gene': 'MTCYBP42', 'score': 0.37}, {'connected_gene': 'GC07P022403', 'score': 0.05}]
chr7	GH07I022724	22724517	22729566	2.15	[{'connected_gene': 'LOC541472', 'score': 593.06}, {'connected_gene': 'IL6', 'score': 550.77}, {'connected_gene': 'FAM126A', 'score': 9.73}, {'connected_gene': 'STEAP1B', 'score': 8.72}, {'connected_gene': 'LOC100506178', 'score': 6.1}, {'connected_gene': 'GC07P022403', 'score': 0.05}]
chr7	GH07I023108	23108401	23108800	0.2	[{'connected_gene': 'NUPL2', 'score': 10.63}, {'connected_gene': 'FAM126A', 'score': 9.84}, {'connected_gene': 'KLHL7', 'score': 0.77}, {'connected_gene': 'AK3P3', 'score': 0.34}]
chr7	GH07I022871	22871907	22872699	0.88	[{'connected_gene': 'SNHG26', 'score': 17.22}, {'connected_gene': 'FAM126A', 'score': 10.19}, {'connected_gene': 'ENSG00000226329', 'score': 0.44}, {'connected_gene': 'SNORD93', 'score': 0.37}]
chr7	GH07I022862	22862528	22868391	1.03	[{'connected_gene': 'SNHG26', 'score': 27.71}, {'connected_gene': 'TOMM7', 'score': 16.36}, {'connected_gene': 'FAM126A', 'score': 10.72}, {'connected_gene': 'ENSG00000226329', 'score': 7.08}, {'connected_gene': 'SNORD93', 'score': 0.44}]
chr7	GH07I023018	23018882	23019031	0.66	[{'connected_gene': 'LOC105375185', 'score': 0.77}, {'connected_gene': 'FAM126A', 'score': 0.77}]
chr7	GH07I023016	23016782	23016931	0.68	[{'connected_gene': 'LOC105375185', 'score': 0.77}, {'connected_gene': 'FAM126A', 'score': 0.77}]
chr7	GH07I023019	23019757	23025285	1.24	[{'connected_gene': 'LOC105375185', 'score': 550.77}, {'connected_gene': 'TOMM7', 'score': 6.84}, {'connected_gene': 'LOC541472', 'score': 6.74}, {'connected_gene': 'FAM126A', 'score': 5.05}, {'connected_gene': 'IL6', 'score': 3.81}, {'connected_gene': 'LOC105375186', 'score': 0.18}]
chr7	GH07I023076	23076882	23077031	0.43	[{'connected_gene': 'KLHL7-AS1', 'score': 38.55}, {'connected_gene': 'FAM126A', 'score': 10.46}, {'connected_gene': 'LOC105375186', 'score': 0.34}, {'connected_gene': 'LOC105375185', 'score': 0.22}]
chr7	GH07I023092	23092664	23094232	0.2	[{'connected_gene': 'KLHL7-AS1', 'score': 66.34}, {'connected_gene': 'FAM126A', 'score': 10.74}, {'connected_gene': 'LOC105375186', 'score': 0.44}, {'connected_gene': 'LOC105375185', 'score': 0.19}]
chr7	GH07I023104	23104906	23107829	2.01	[{'connected_gene': 'KLHL7-AS1', 'score': 629.51}, {'connected_gene': 'KLHL7', 'score': 558.81}, {'connected_gene': 'NUPL2', 'score': 10.62}, {'connected_gene': 'FAM126A', 'score': 9.84}, {'connected_gene': 'AK3P3', 'score': 5.22}]
chr7	GH07I023114	23114161	23116965	0.69	[{'connected_gene': 'KLHL7-AS1', 'score': 73.87}, {'connected_gene': 'NUPL2', 'score': 10.65}, {'connected_gene': 'FAM126A', 'score': 10.1}, {'connected_gene': 'AK3P3', 'score': 5.01}, {'connected_gene': 'KLHL7', 'score': 0.44}]
chr7	GH07I022559	22559962	22566929	1.32	[{'connected_gene': 'LOC100506178', 'score': 555.94}, {'connected_gene': 'LOC541472', 'score': 18.59}, {'connected_gene': 'IL6', 'score': 13.06}, {'connected_gene': 'FAM126A', 'score': 9.94}, {'connected_gene': 'ENSG00000232949', 'score': 0.31}, {'connected_gene': 'STEAP1B', 'score': 0.2}, {'connected_gene': 'GC07P022403', 'score': 0.1}]
chr7	GH07I022894	22894388	22894997	0.46	[{'connected_gene': 'GC07P022881', 'score': 0.39}, {'connected_gene': 'PIR51294', 'score': 0.37}, {'connected_gene': 'FAM126A', 'score': 0.13}]
chr7	GH07I022716	22716691	22719382	1.51	[{'connected_gene': 'GC07P022719', 'score': 550.77}, {'connected_gene': 'LOC541472', 'score': 19.07}, {'connected_gene': 'STEAP1B', 'score': 10.88}, {'connected_gene': 'FAM126A', 'score': 9.06}, {'connected_gene': 'LOC401312', 'score': 0.23}, {'connected_gene': 'GC07P022403', 'score': 0.06}]