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
ENST00000462523	[[100437190, 100437869], [100444481, 100444712], [100447204, 100447322], [100449377, 100449543], [100451815, 100451921], [100455930, 100456041], [100459402, 100459575]]	[[100444590, 100444712], [100447204, 100447322], [100449377, 100449543], [100451815, 100451921], [100455930, 100456041]]
ENST00000375128	[[100437190, 100437869], [100447204, 100447322], [100449377, 100449543], [100451815, 100451921], [100455930, 100456041], [100459402, 100459639]]	[[100437720, 100437869], [100447204, 100447322], [100449377, 100449543], [100451815, 100451921], [100455930, 100456041], [100459402, 100459574]]
ENST00000485042	[[100437348, 100437869], [100438052, 100438237]]	None
ENST00000496104	[[100447242, 100447322], [100449377, 100449543], [100455930, 100456041], [100459505, 100459577]]	None
NR_027302	[[100437190, 100437869], [100444481, 100444712], [100447204, 100447322], [100449377, 100449543], [100451815, 100451921], [100455930, 100456041], [100459402, 100459691]]	None
NM_000380	[[100437190, 100437869], [100447204, 100447322], [100449377, 100449543], [100451815, 100451921], [100455930, 100456041], [100459402, 100459691]]	[[100437720, 100437869], [100447204, 100447322], [100449377, 100449543], [100451815, 100451921], [100455930, 100456041], [100459402, 100459574]]

Promoter

Chrom	Start	End	Description
chr9	100459579	100459631	CAGE_peak_1_at_XPA_5end
chr9	100459641	100459663	CAGE_peak_2_at_XPA_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I098117	98117444	98123006	2.54	[{'connected_gene': 'TRIM14', 'score': 559.71}, {'connected_gene': 'NCBP1', 'score': 56.4}, {'connected_gene': 'ZNF322P1', 'score': 38.92}, {'connected_gene': 'TSTD2', 'score': 38.4}, {'connected_gene': 'ENSG00000254633', 'score': 26.39}, {'connected_gene': 'CORO2A', 'score': 22.74}, {'connected_gene': 'ANKS6', 'score': 21.53}, {'connected_gene': 'CCDC180', 'score': 18.62}, {'connected_gene': 'LOC105376171', 'score': 12.1}, {'connected_gene': 'XPA', 'score': 11.9}, {'connected_gene': 'TBC1D2', 'score': 10.26}, {'connected_gene': 'TRMO', 'score': 5.09}, {'connected_gene': 'FOXE1', 'score': 5.03}, {'connected_gene': 'HEMGN', 'score': 1.26}, {'connected_gene': 'PIR36587', 'score': 0.39}]
chr9	GH09I097695	97695783	97698568	2	[{'connected_gene': 'XPA', 'score': 561.88}, {'connected_gene': 'KRT18P13', 'score': 559.49}, {'connected_gene': 'ZNF322P1', 'score': 16.08}, {'connected_gene': 'ZNF510', 'score': 14.66}, {'connected_gene': 'NCBP1', 'score': 11.36}, {'connected_gene': 'CCDC180', 'score': 11.04}, {'connected_gene': 'ZNF782', 'score': 9.67}, {'connected_gene': 'TSTD2', 'score': 8.34}, {'connected_gene': 'GC09M097677', 'score': 0.37}]
chr9	GH09I098162	98162319	98165617	0.72	[{'connected_gene': 'CORO2A', 'score': 18.79}, {'connected_gene': 'TBC1D2', 'score': 18.27}, {'connected_gene': 'XPA', 'score': 13.96}, {'connected_gene': 'ZNF322P1', 'score': 12.9}, {'connected_gene': 'TRIM14', 'score': 11.9}, {'connected_gene': 'TSTD2', 'score': 11.72}, {'connected_gene': 'PIR60537', 'score': 0.31}]
chr9	GH09I097918	97918311	97924164	2.6	[{'connected_gene': 'TRMO', 'score': 591.45}, {'connected_gene': 'NCBP1', 'score': 52.35}, {'connected_gene': 'TSTD2', 'score': 39.53}, {'connected_gene': 'ZNF322P1', 'score': 24.45}, {'connected_gene': 'NUTM2G', 'score': 23.16}, {'connected_gene': 'MFSD14C', 'score': 22.18}, {'connected_gene': 'ZNF782', 'score': 21.82}, {'connected_gene': 'ANP32B', 'score': 12.67}, {'connected_gene': 'ENSG00000236896', 'score': 12.67}, {'connected_gene': 'HEMGN', 'score': 12.64}, {'connected_gene': 'RNU6-918P', 'score': 12.0}, {'connected_gene': 'ENSG00000254633', 'score': 12.0}, {'connected_gene': 'XPA', 'score': 11.72}, {'connected_gene': 'TRIM14', 'score': 1.76}, {'connected_gene': 'ENSG00000201830', 'score': 0.44}]
chr9	GH09I097904	97904601	97909521	1.2	[{'connected_gene': 'TRMO', 'score': 36.04}, {'connected_gene': 'FOXE1', 'score': 30.52}, {'connected_gene': 'KRT18P13', 'score': 11.13}, {'connected_gene': 'XPA', 'score': 11.13}, {'connected_gene': 'TBC1D2', 'score': 10.41}, {'connected_gene': 'GC09P097916', 'score': 0.44}, {'connected_gene': 'GC09P097870', 'score': 0.28}]
chr9	GH09I097631	97631431	97635396	2.29	[{'connected_gene': 'NCBP1', 'score': 582.53}, {'connected_gene': 'TSTD2', 'score': 567.37}, {'connected_gene': 'MFSD14C', 'score': 22.19}, {'connected_gene': 'ZNF782', 'score': 21.82}, {'connected_gene': 'NUTM2G', 'score': 20.22}, {'connected_gene': 'ZNF322P1', 'score': 13.57}, {'connected_gene': 'ENSG00000224848', 'score': 12.63}, {'connected_gene': 'ZNF510', 'score': 12.18}, {'connected_gene': 'ENSG00000254633', 'score': 12.02}, {'connected_gene': 'XPA', 'score': 10.96}, {'connected_gene': 'LOC105376171', 'score': 10.79}, {'connected_gene': 'TDRD7', 'score': 10.74}, {'connected_gene': 'LOC441454', 'score': 10.57}, {'connected_gene': 'TMOD1', 'score': 9.21}, {'connected_gene': 'PIR37261', 'score': 0.31}, {'connected_gene': 'GC09P097607', 'score': 0.31}]
chr9	GH09I097694	97694201	97694400	0.43	[{'connected_gene': 'FOXE1', 'score': 9.99}, {'connected_gene': 'XPA', 'score': 0.77}, {'connected_gene': 'GC09M097677', 'score': 0.39}]
chr9	GH09I097689	97689539	97689688	0.54	[{'connected_gene': 'FOXE1', 'score': 9.99}, {'connected_gene': 'XPA', 'score': 0.44}, {'connected_gene': 'GC09M097677', 'score': 0.39}]
chr9	GH09I097692	97692411	97692571	0.33	[{'connected_gene': 'FOXE1', 'score': 9.99}, {'connected_gene': 'TSTD2', 'score': 2.44}, {'connected_gene': 'XPA', 'score': 1.92}, {'connected_gene': 'GC09M097677', 'score': 0.39}]
chr9	GH09I097510	97510253	97512303	1.34	[{'connected_gene': 'ZNF510', 'score': 39.12}, {'connected_gene': 'ENSG00000224848', 'score': 34.09}, {'connected_gene': 'ZNF322P1', 'score': 32.05}, {'connected_gene': 'NCBP1', 'score': 31.36}, {'connected_gene': 'XPA', 'score': 28.62}, {'connected_gene': 'TSTD2', 'score': 26.74}, {'connected_gene': 'LOC105376168', 'score': 23.41}, {'connected_gene': 'LOC105376171', 'score': 19.05}, {'connected_gene': 'ZNF782', 'score': 14.1}, {'connected_gene': 'LOC441455', 'score': 11.82}, {'connected_gene': 'CCDC180', 'score': 10.66}, {'connected_gene': 'LOC441454', 'score': 10.58}, {'connected_gene': 'TMOD1', 'score': 0.39}]
chr9	GH09I097688	97688158	97689488	0.54	[{'connected_gene': 'RNU6-918P', 'score': 10.11}, {'connected_gene': 'FOXE1', 'score': 9.99}, {'connected_gene': 'XPA', 'score': 0.44}, {'connected_gene': 'GC09M097677', 'score': 0.44}]
chr9	GH09I097979	97979663	97987948	2.52	[{'connected_gene': 'ANP32B', 'score': 550.77}, {'connected_gene': 'NANS', 'score': 26.5}, {'connected_gene': 'NCBP1', 'score': 23.23}, {'connected_gene': 'MFSD14C', 'score': 22.18}, {'connected_gene': 'ZNF782', 'score': 21.82}, {'connected_gene': 'TSTD2', 'score': 16.66}, {'connected_gene': 'ZNF322P1', 'score': 13.55}, {'connected_gene': 'ENSG00000254633', 'score': 12.0}, {'connected_gene': 'XPA', 'score': 10.81}, {'connected_gene': 'TRMO', 'score': 6.22}, {'connected_gene': 'TRIM14', 'score': 4.69}, {'connected_gene': 'ENSG00000236896', 'score': 0.77}]
chr9	GH09I097670	97670481	97670807	0.22	[{'connected_gene': 'PIR56620', 'score': 550.77}, {'connected_gene': 'PIR42148', 'score': 550.77}, {'connected_gene': 'TSTD2', 'score': 1.81}, {'connected_gene': 'XPA', 'score': 1.73}, {'connected_gene': 'LOC105376171', 'score': 0.29}, {'connected_gene': 'NCBP1', 'score': 0.28}]
chr9	GH09I097660	97660979	97661128	0.2	[{'connected_gene': 'PIR56620', 'score': 0.39}, {'connected_gene': 'LOC105376171', 'score': 0.34}, {'connected_gene': 'NCBP1', 'score': 0.31}, {'connected_gene': 'XPA', 'score': 0.28}]
chr9	GH09I097231	97231950	97233090	0.95	[{'connected_gene': 'ENSG00000235494', 'score': 558.53}, {'connected_gene': 'VN1R51P', 'score': 32.68}, {'connected_gene': 'CCDC180', 'score': 26.45}, {'connected_gene': 'TSTD2', 'score': 16.65}, {'connected_gene': 'ZNF322P1', 'score': 13.82}, {'connected_gene': 'ZNF782', 'score': 13.74}, {'connected_gene': 'NCBP1', 'score': 12.67}, {'connected_gene': 'ENSG00000254633', 'score': 12.23}, {'connected_gene': 'MFSD14C', 'score': 10.96}, {'connected_gene': 'XPA', 'score': 10.79}, {'connected_gene': 'LOC441454', 'score': 10.6}, {'connected_gene': 'LOC100421693', 'score': 9.96}, {'connected_gene': 'GAS2L1P2', 'score': 4.14}, {'connected_gene': 'ENSG00000203279', 'score': 0.44}, {'connected_gene': 'ANKRD18CP', 'score': 0.39}]