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
ENST00000551652	[[100592899, 100593008], [100598717, 100598835], [100599453, 100599522], [100601440, 100601564], [100603850, 100603986], [100604072, 100604098]]	[[100592904, 100593008], [100598717, 100598835], [100599453, 100599522], [100601440, 100601564], [100603850, 100603986], [100604072, 100604098]]
ENST00000553038	[[100593642, 100594697], [100598717, 100598835], [100599453, 100599522], [100601440, 100601564], [100604072, 100604129], [100606033, 100606132], [100606227, 100606306], [100612192, 100612364], [100613785, 100613924], [100635510, 100635643]]	[[100594629, 100594697], [100598717, 100598835], [100599453, 100599522], [100601440, 100601564], [100604072, 100604077]]
ENST00000188312	[[100593864, 100594697], [100598717, 100598835], [100599453, 100599522], [100601440, 100601564], [100603850, 100603986], [100604072, 100604129], [100606033, 100606132], [100606227, 100606306], [100612192, 100612364], [100613785, 100613924], [100617563, 100618201]]	[[100594629, 100594697], [100598717, 100598835], [100599453, 100599522], [100601440, 100601564], [100603850, 100603986], [100604072, 100604129], [100606033, 100606132], [100606227, 100606306], [100612192, 100612364], [100613785, 100613924], [100617563, 100617693]]
ENST00000551517	[[100594588, 100594697], [100598717, 100598835], [100599453, 100599535], [100601440, 100601699]]	None
ENST00000546902	[[100594593, 100594838], [100598717, 100598835], [100599453, 100599522], [100601440, 100601564], [100603850, 100603986], [100604072, 100604129], [100606033, 100606132], [100606227, 100606306], [100612192, 100612364], [100613785, 100613924], [100617563, 100618202]]	[[100599513, 100599522], [100601440, 100601564], [100603850, 100603986], [100604072, 100604129], [100606033, 100606132], [100606227, 100606306], [100612192, 100612364], [100613785, 100613924], [100617563, 100617693]]
ENST00000550813	[[100594594, 100594697], [100598717, 100598835], [100599453, 100599522], [100599975, 100600036]]	None
ENST00000549977	[[100594594, 100594697], [100598717, 100598835], [100599453, 100599522], [100601440, 100601699]]	None
ENST00000547458	[[100594594, 100594697], [100598717, 100598835], [100599453, 100599522], [100601440, 100601564], [100602549, 100602667], [100603850, 100603913]]	[[100594629, 100594697], [100598717, 100598835], [100599453, 100599522], [100601440, 100601564], [100602549, 100602605]]
ENST00000548180	[[100594594, 100594697], [100598717, 100598835], [100599453, 100599535], [100601440, 100601564], [100603850, 100603986], [100604072, 100604129], [100606033, 100606132], [100606227, 100606306], [100612192, 100612364], [100613785, 100613924], [100617563, 100618201]]	[[100594629, 100594697], [100598717, 100598835]]
ENST00000551440	[[100594603, 100594697], [100598717, 100599251]]	None
ENST00000552064	[[100594607, 100594697], [100598717, 100598835], [100599453, 100599535], [100601440, 100601564], [100604072, 100604129], [100606033, 100606132], [100606227, 100606306], [100612192, 100612323]]	[[100594629, 100594697], [100598717, 100598835]]
ENST00000552376	[[100594607, 100594697], [100598717, 100598835], [100599453, 100599522], [100601440, 100601564], [100603850, 100603986], [100604072, 100604129], [100606033, 100606132], [100606227, 100606306], [100612192, 100612364], [100613845, 100613924], [100617563, 100618199]]	[[100594629, 100594697], [100598717, 100598835], [100599453, 100599522], [100601440, 100601564], [100603850, 100603986], [100604072, 100604129], [100606033, 100606132], [100606227, 100606306], [100612192, 100612364], [100613845, 100613924], [100617563, 100617693]]
ENST00000551617	[[100594628, 100594838], [100598717, 100598835], [100599453, 100599522], [100601440, 100601564], [100603850, 100603986], [100604072, 100604129], [100606033, 100606132], [100606227, 100606306], [100612192, 100612364], [100613845, 100613924], [100617563, 100618135]]	[[100599513, 100599522], [100601440, 100601564], [100603850, 100603986], [100604072, 100604129], [100606033, 100606132], [100606227, 100606306], [100612192, 100612364], [100613845, 100613924], [100617563, 100617693]]
NM_022496	[[100593864, 100594697], [100598717, 100598835], [100599453, 100599522], [100601440, 100601564], [100603850, 100603986], [100604072, 100604129], [100606033, 100606132], [100606227, 100606306], [100612192, 100612364], [100613785, 100613924], [100617563, 100618202]]	[[100594629, 100594697], [100598717, 100598835], [100599453, 100599522], [100601440, 100601564], [100603850, 100603986], [100604072, 100604129], [100606033, 100606132], [100606227, 100606306], [100612192, 100612364], [100613785, 100613924], [100617563, 100617693]]
NR_048569	[[100594554, 100594697], [100598717, 100598835], [100599453, 100599535], [100601440, 100601564], [100603850, 100603986], [100604072, 100604129], [100606033, 100606132], [100606227, 100606306], [100612192, 100612364], [100613785, 100613924], [100617563, 100618202]]	None
NR_048568	[[100594554, 100594838], [100598717, 100598835], [100599453, 100599522], [100601440, 100601564], [100603850, 100603986], [100604072, 100604129], [100606033, 100606132], [100606227, 100606306], [100612192, 100612364], [100613785, 100613924], [100617563, 100618202]]	None

Promoter

Chrom	Start	End	Description
chr12	100594557	100594634	CAGE_peak_1_at_ACTR6_5end
chr12	100594754	100594758	CAGE_peak_2_at_ACTR6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I100123	100123401	100123600	0.2	[{'connected_gene': 'ACTR6', 'score': 10.16}, {'connected_gene': 'ANKS1B', 'score': 4.76}, {'connected_gene': 'UHRF1BP1L', 'score': 4.56}, {'connected_gene': 'GC12P100116', 'score': 0.44}]
chr12	GH12I100233	100233966	100235070	1.13	[{'connected_gene': 'ACTR6', 'score': 11.2}, {'connected_gene': 'ANKS1B', 'score': 4.46}, {'connected_gene': 'GC12P100217', 'score': 0.37}, {'connected_gene': 'GC12M100398', 'score': 0.37}, {'connected_gene': 'DEPDC4', 'score': 0.29}]
chr12	GH12I100198	100198905	100203332	2.07	[{'connected_gene': 'ACTR6', 'score': 561.2}, {'connected_gene': 'ENSG00000257489', 'score': 550.77}, {'connected_gene': 'SCYL2', 'score': 23.2}, {'connected_gene': 'GOLGA2P5', 'score': 13.33}, {'connected_gene': 'ANKS1B', 'score': 4.72}, {'connected_gene': 'GC12M100397', 'score': 0.39}]
chr12	GH12I100058	100058173	100059309	0.63	[{'connected_gene': 'ACTR6', 'score': 10.38}, {'connected_gene': 'GOLGA2P5', 'score': 8.41}, {'connected_gene': 'ANKS1B', 'score': 4.84}, {'connected_gene': 'GC12M100054', 'score': 0.77}, {'connected_gene': 'GC12P100050', 'score': 0.44}, {'connected_gene': 'GC12P100116', 'score': 0.22}, {'connected_gene': 'UHRF1BP1L', 'score': 0.18}]
chr12	GH12I101051	101051073	101053724	1.1	[{'connected_gene': 'ACTR6', 'score': 14.15}, {'connected_gene': 'UTP20', 'score': 12.88}, {'connected_gene': 'ENSG00000257543', 'score': 9.87}, {'connected_gene': 'GAS2L3', 'score': 4.78}, {'connected_gene': 'SNX5P2', 'score': 0.39}, {'connected_gene': 'ENSG00000258007', 'score': 0.39}, {'connected_gene': 'ANO4', 'score': 0.06}]
chr12	GH12I100228	100228913	100231998	0.74	[{'connected_gene': 'SCYL2', 'score': 11.77}, {'connected_gene': 'ACTR6', 'score': 11.22}, {'connected_gene': 'ANKS1B', 'score': 4.66}, {'connected_gene': 'GC12P100217', 'score': 0.39}, {'connected_gene': 'GC12M100398', 'score': 0.34}, {'connected_gene': 'DEPDC4', 'score': 0.28}]
chr12	GH12I100277	100277938	100277997	0.5	[{'connected_gene': 'SCYL2', 'score': 550.39}, {'connected_gene': 'SLC17A8', 'score': 10.73}, {'connected_gene': 'ACTR6', 'score': 10.06}, {'connected_gene': 'DEPDC4', 'score': 0.39}, {'connected_gene': 'GC12M100395', 'score': 0.31}]
chr12	GH12I100266	100266175	100269774	2.02	[{'connected_gene': 'SCYL2', 'score': 564.3}, {'connected_gene': 'DEPDC4', 'score': 550.77}, {'connected_gene': 'ACTR6', 'score': 20.74}, {'connected_gene': 'RN7SL176P', 'score': 4.48}, {'connected_gene': 'GC12M100395', 'score': 0.28}]
chr12	GH12I100127	100127596	100129600	1.04	[{'connected_gene': 'GOLGA2P5', 'score': 10.82}, {'connected_gene': 'ACTR6', 'score': 10.75}, {'connected_gene': 'UHRF1BP1L', 'score': 5.05}, {'connected_gene': 'GC12P100116', 'score': 0.39}]
chr12	GH12I100151	100151085	100152628	0.2	[{'connected_gene': 'DNM1P19', 'score': 550.77}, {'connected_gene': 'GC12P100150', 'score': 550.77}, {'connected_gene': 'UHRF1BP1L', 'score': 12.0}, {'connected_gene': 'ACTR6', 'score': 11.25}, {'connected_gene': 'GOLGA2P5', 'score': 9.99}, {'connected_gene': 'PIRC55', 'score': 0.34}]
chr12	GH12I100279	100279814	100280552	0.52	[{'connected_gene': 'SLC17A8', 'score': 10.73}, {'connected_gene': 'ACTR6', 'score': 10.05}, {'connected_gene': 'SCYL2', 'score': 4.58}, {'connected_gene': 'DEPDC4', 'score': 0.39}, {'connected_gene': 'GC12M100395', 'score': 0.34}]
chr12	GH12I100163	100163458	100164640	1.03	[{'connected_gene': 'PIR50984', 'score': 550.77}, {'connected_gene': 'PIR48175', 'score': 550.77}, {'connected_gene': 'PIR55599', 'score': 550.77}, {'connected_gene': 'PIR50064', 'score': 550.77}, {'connected_gene': 'PIR56508', 'score': 550.77}, {'connected_gene': 'PIR42520', 'score': 550.77}, {'connected_gene': 'GC12M100393', 'score': 550.77}, {'connected_gene': 'PIR55619', 'score': 550.77}, {'connected_gene': 'GOLGA2P5', 'score': 12.48}, {'connected_gene': 'ACTR6', 'score': 12.0}, {'connected_gene': 'UHRF1BP1L', 'score': 4.91}, {'connected_gene': 'PIR60666', 'score': 0.77}, {'connected_gene': 'PIRC55', 'score': 0.39}]
chr12	GH12I100154	100154823	100155052	0.69	[{'connected_gene': 'GC12M100394', 'score': 550.77}, {'connected_gene': 'GC12M100391', 'score': 550.77}, {'connected_gene': 'PIR54025', 'score': 550.77}, {'connected_gene': 'DNM1P19', 'score': 550.77}, {'connected_gene': 'PIR57077', 'score': 550.77}, {'connected_gene': 'PIR59586', 'score': 550.77}, {'connected_gene': 'ACTR6', 'score': 11.65}, {'connected_gene': 'PIRC55', 'score': 0.34}]
chr12	GH12I100155	100154600	100154801	0.63	[{'connected_gene': 'GC12M100394', 'score': 550.77}, {'connected_gene': 'DNM1P19', 'score': 550.77}, {'connected_gene': 'PIR59586', 'score': 550.77}, {'connected_gene': 'ACTR6', 'score': 11.65}, {'connected_gene': 'PIRC55', 'score': 0.34}]