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
ENST00000476766	[[102747123, 102747314], [102749462, 102749641], [102750192, 102750300], [102750625, 102750811], [102752946, 102753120]]	None
ENST00000473656	[[102747306, 102747370], [102749400, 102749641], [102750192, 102750300], [102750625, 102750767], [102752946, 102753337]]	None
ENST00000459764	[[102747551, 102747637], [102749400, 102749641]]	None
ENST00000370228	[[102747782, 102749210], [102749400, 102749641], [102750192, 102750300], [102750625, 102750811], [102752946, 102754158]]	[[102747967, 102749210], [102749400, 102749641], [102750192, 102750300], [102750625, 102750782]]
ENST00000311916	[[102747782, 102749210], [102749400, 102749641], [102750192, 102750300], [102750625, 102750767], [102752946, 102754158]]	[[102747967, 102749210], [102749400, 102749641], [102750192, 102750300], [102750625, 102750767], [102752946, 102753267]]
NM_001163813	[[102747292, 102747370], [102749400, 102749641], [102750192, 102750300], [102750625, 102750767], [102752946, 102754158]]	[[102749519, 102749641], [102750192, 102750300], [102750625, 102750767], [102752946, 102753267]]
NM_001163814	[[102747292, 102747370], [102749400, 102749641], [102750192, 102750300], [102750625, 102750811], [102752946, 102754158]]	[[102749519, 102749641], [102750192, 102750300], [102750625, 102750782]]
NM_021830	[[102747292, 102749210], [102749400, 102749641], [102750192, 102750300], [102750625, 102750767], [102752946, 102754158]]	[[102747967, 102749210], [102749400, 102749641], [102750192, 102750300], [102750625, 102750767], [102752946, 102753267]]
NM_001163812	[[102747292, 102749210], [102749400, 102749641], [102750192, 102750300], [102750625, 102750811], [102752946, 102754158]]	[[102747967, 102749210], [102749400, 102749641], [102750192, 102750300], [102750625, 102750782]]

Promoter

Chrom	Start	End	Description
chr10	102747286	102747333	CAGE_peak_1_at_C10orf2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I100994	100994190	100994973	0.82	[{'connected_gene': 'MRPL43', 'score': 14.33}, {'connected_gene': 'LZTS2', 'score': 0.77}, {'connected_gene': 'PIR54177', 'score': 0.44}, {'connected_gene': 'TWNK', 'score': 0.44}]
chr10	GH10I100986	100986379	100988914	2.03	[{'connected_gene': 'MRPL43', 'score': 564.85}, {'connected_gene': 'PIR54177', 'score': 550.77}, {'connected_gene': 'PIR56323', 'score': 550.77}, {'connected_gene': 'PIR34755', 'score': 550.77}, {'connected_gene': 'PIR57005', 'score': 550.77}, {'connected_gene': 'PIR47631', 'score': 550.77}, {'connected_gene': 'GC10M100989', 'score': 550.77}, {'connected_gene': 'TWNK', 'score': 550.77}, {'connected_gene': 'PHBP9', 'score': 35.87}, {'connected_gene': 'LZTS2', 'score': 32.29}, {'connected_gene': 'ENSG00000272572', 'score': 28.58}, {'connected_gene': 'DNMBP', 'score': 19.43}, {'connected_gene': 'CHUK', 'score': 19.29}, {'connected_gene': 'PDZD7', 'score': 13.13}, {'connected_gene': 'ENSG00000236308', 'score': 9.72}]
chr10	GH10I100655	100654448	100654753	1.27	[{'connected_gene': 'MRPL43', 'score': 26.34}, {'connected_gene': 'EBAG9P1', 'score': 25.61}, {'connected_gene': 'PHBP9', 'score': 21.43}, {'connected_gene': 'TWNK', 'score': 19.62}, {'connected_gene': 'DNMBP', 'score': 19.46}, {'connected_gene': 'SLC25A28', 'score': 9.85}, {'connected_gene': 'ENSG00000274660', 'score': 0.39}, {'connected_gene': 'NDUFB8', 'score': 0.13}]
chr10	GH10I101006	101006022	101009421	1.21	[{'connected_gene': 'MRPL43', 'score': 24.01}, {'connected_gene': 'PHBP9', 'score': 13.28}, {'connected_gene': 'DNMBP', 'score': 12.68}, {'connected_gene': 'TWNK', 'score': 10.81}, {'connected_gene': 'LZTS2', 'score': 0.39}, {'connected_gene': 'PDZD7', 'score': 0.34}]
chr10	GH10I101030	101030066	101036428	2.47	[{'connected_gene': 'PDZD7', 'score': 580.21}, {'connected_gene': 'SFXN3', 'score': 557.7}, {'connected_gene': 'MRPL43', 'score': 34.14}, {'connected_gene': 'TWNK', 'score': 30.97}, {'connected_gene': 'KAZALD1', 'score': 13.04}, {'connected_gene': 'TLX1', 'score': 11.6}, {'connected_gene': 'TLX1NB', 'score': 11.59}, {'connected_gene': 'SEMA4G', 'score': 10.89}, {'connected_gene': 'ENSG00000236662', 'score': 10.68}, {'connected_gene': 'MIR608', 'score': 10.68}, {'connected_gene': 'CWF19L1', 'score': 10.66}, {'connected_gene': 'POLL', 'score': 9.97}, {'connected_gene': 'PHBP9', 'score': 9.88}, {'connected_gene': 'ENSG00000273162', 'score': 0.31}]
chr10	GH10I101028	101028737	101029813	0.82	[{'connected_gene': 'PDZD7', 'score': 550.77}, {'connected_gene': 'SFXN3', 'score': 550.77}, {'connected_gene': 'ENSG00000236662', 'score': 10.7}, {'connected_gene': 'MRPL43', 'score': 10.7}, {'connected_gene': 'TWNK', 'score': 10.7}, {'connected_gene': 'SEMA4G', 'score': 10.31}, {'connected_gene': 'LZTS2', 'score': 0.29}]
chr10	GH10I101692	101692776	101695918	2.33	[{'connected_gene': 'FBXW4', 'score': 550.77}, {'connected_gene': 'PPRC1', 'score': 40.74}, {'connected_gene': 'GBF1', 'score': 32.68}, {'connected_gene': 'MRPL43', 'score': 30.36}, {'connected_gene': 'LDB1', 'score': 23.72}, {'connected_gene': 'ENSG00000272572', 'score': 22.8}, {'connected_gene': 'HPS6', 'score': 17.22}, {'connected_gene': 'TWNK', 'score': 10.82}, {'connected_gene': 'SUFU', 'score': 10.73}, {'connected_gene': 'LZTS2', 'score': 10.04}, {'connected_gene': 'C10orf76', 'score': 10.01}, {'connected_gene': 'PDZD7', 'score': 9.66}, {'connected_gene': 'BTRC', 'score': 5.64}, {'connected_gene': 'DPCD', 'score': 4.6}, {'connected_gene': 'MGEA5', 'score': 1.23}, {'connected_gene': 'RNU6-1165P', 'score': 0.19}]
chr10	GH10I100900	100900644	100902062	0.58	[{'connected_gene': 'SEMA4G', 'score': 10.47}, {'connected_gene': 'ENSG00000236662', 'score': 9.92}, {'connected_gene': 'MRPL43', 'score': 9.92}, {'connected_gene': 'TWNK', 'score': 9.92}, {'connected_gene': 'SLF2', 'score': 6.7}, {'connected_gene': 'ENSG00000222072', 'score': 0.44}, {'connected_gene': 'GC10P100864', 'score': 0.28}]
chr10	GH10I100939	100939904	100940053	0.31	[{'connected_gene': 'SEMA4G', 'score': 11.94}, {'connected_gene': 'SLF2', 'score': 11.85}, {'connected_gene': 'MIR608', 'score': 11.79}, {'connected_gene': 'ENSG00000236662', 'score': 10.95}, {'connected_gene': 'MRPL43', 'score': 10.95}, {'connected_gene': 'TWNK', 'score': 10.95}, {'connected_gene': 'ENSG00000272572', 'score': 0.31}, {'connected_gene': 'ENSG00000273476', 'score': 0.31}]
chr10	GH10I100004	100004257	100011153	2.19	[{'connected_gene': 'DNMBP', 'score': 582.14}, {'connected_gene': 'EBAG9P1', 'score': 19.35}, {'connected_gene': 'MRPL43', 'score': 15.11}, {'connected_gene': 'TWNK', 'score': 10.81}, {'connected_gene': 'PHBP9', 'score': 9.92}, {'connected_gene': 'DNMBP-AS1', 'score': 0.18}]
chr10	GH10I101828	101828804	101833162	1.99	[{'connected_gene': 'PPRC1', 'score': 112.1}, {'connected_gene': 'LDB1', 'score': 91.92}, {'connected_gene': 'GBF1', 'score': 71.2}, {'connected_gene': 'LZTS2', 'score': 64.11}, {'connected_gene': 'MRPL43', 'score': 56.79}, {'connected_gene': 'HPS6', 'score': 53.36}, {'connected_gene': 'NOLC1', 'score': 28.51}, {'connected_gene': 'SUFU', 'score': 24.39}, {'connected_gene': 'ENSG00000272572', 'score': 22.79}, {'connected_gene': 'KCNIP2-AS1', 'score': 16.81}, {'connected_gene': 'SFXN2', 'score': 13.66}, {'connected_gene': 'C10orf76', 'score': 11.15}, {'connected_gene': 'KCNIP2', 'score': 10.87}, {'connected_gene': 'SLF2', 'score': 10.29}, {'connected_gene': 'ARL3', 'score': 10.1}, {'connected_gene': 'TWNK', 'score': 10.04}, {'connected_gene': 'NFKB2', 'score': 9.69}, {'connected_gene': 'PDZD7', 'score': 9.66}, {'connected_gene': 'NPM3', 'score': 6.42}, {'connected_gene': 'RPARP-AS1', 'score': 3.8}, {'connected_gene': 'BTRC', 'score': 1.76}, {'connected_gene': 'LOC101927445', 'score': 0.44}, {'connected_gene': 'GC10M101802', 'score': 0.37}]
chr10	GH10I101947	101947924	101951045	0.76	[{'connected_gene': 'PPRC1', 'score': 51.04}, {'connected_gene': 'MRPL43', 'score': 49.15}, {'connected_gene': 'GBF1', 'score': 45.47}, {'connected_gene': 'LDB1', 'score': 35.76}, {'connected_gene': 'ARL3', 'score': 24.86}, {'connected_gene': 'TWNK', 'score': 18.83}, {'connected_gene': 'LZTS2', 'score': 14.66}, {'connected_gene': 'HPS6', 'score': 11.56}, {'connected_gene': 'KCNIP2-AS1', 'score': 10.61}, {'connected_gene': 'SFXN2', 'score': 9.87}, {'connected_gene': 'KCNIP2', 'score': 6.29}, {'connected_gene': 'WBP1L', 'score': 3.82}, {'connected_gene': 'ENSG00000222430', 'score': 0.77}, {'connected_gene': 'ENSG00000274742', 'score': 0.28}, {'connected_gene': 'C10orf76', 'score': 0.14}]
chr10	GH10I101814	101814173	101820044	2.3	[{'connected_gene': 'KCNIP2-AS1', 'score': 550.77}, {'connected_gene': 'MGEA5', 'score': 550.77}, {'connected_gene': 'PPRC1', 'score': 31.46}, {'connected_gene': 'HPS6', 'score': 28.21}, {'connected_gene': 'LDB1', 'score': 21.66}, {'connected_gene': 'GBF1', 'score': 21.36}, {'connected_gene': 'MRPL43', 'score': 15.11}, {'connected_gene': 'TWNK', 'score': 10.81}, {'connected_gene': 'SUFU', 'score': 10.73}, {'connected_gene': 'NPM3', 'score': 6.65}, {'connected_gene': 'KCNIP2', 'score': 5.72}, {'connected_gene': 'GC10M101802', 'score': 0.29}]
chr10	GH10I100895	100895126	100896129	0.71	[{'connected_gene': 'ENSG00000236662', 'score': 10.17}, {'connected_gene': 'MRPL43', 'score': 10.16}, {'connected_gene': 'TWNK', 'score': 10.16}, {'connected_gene': 'ENSG00000272572', 'score': 9.29}, {'connected_gene': 'ENSG00000222072', 'score': 0.39}, {'connected_gene': 'GC10P100864', 'score': 0.29}]
chr10	GH10I100993	100993965	100994145	0.46	[{'connected_gene': 'ENSG00000272572', 'score': 4.25}, {'connected_gene': 'LZTS2', 'score': 0.77}, {'connected_gene': 'PIR54177', 'score': 0.44}, {'connected_gene': 'TWNK', 'score': 0.44}]
chr10	GH10I100985	100985424	100985573	0.6	[{'connected_gene': 'ENSG00000236662', 'score': 550.77}, {'connected_gene': 'PIR56323', 'score': 550.77}, {'connected_gene': 'PIR34755', 'score': 550.77}, {'connected_gene': 'GC10P100985', 'score': 550.77}, {'connected_gene': 'PIR57005', 'score': 550.77}, {'connected_gene': 'GC10M100989', 'score': 550.77}, {'connected_gene': 'TWNK', 'score': 550.77}, {'connected_gene': 'SLF2', 'score': 4.65}, {'connected_gene': 'MRPL43', 'score': 0.77}, {'connected_gene': 'SEMA4G', 'score': 0.37}]
chr10	GH10I100909	100909540	100914389	2.46	[{'connected_gene': 'ENSG00000272572', 'score': 561.28}, {'connected_gene': 'SLF2', 'score': 555.34}, {'connected_gene': 'MRPL43', 'score': 22.19}, {'connected_gene': 'TWNK', 'score': 20.93}, {'connected_gene': 'CWF19L1', 'score': 19.84}, {'connected_gene': 'CHUK', 'score': 19.17}, {'connected_gene': 'POLL', 'score': 18.0}, {'connected_gene': 'PHBP9', 'score': 12.35}, {'connected_gene': 'SEMA4G', 'score': 10.74}, {'connected_gene': 'MIR608', 'score': 10.72}, {'connected_gene': 'DNMBP', 'score': 9.95}, {'connected_gene': 'ENSG00000222072', 'score': 0.77}]