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
ENST00000426584	[[102756374, 102756428], [102762253, 102762703], [102763263, 102763575]]	[[102762295, 102762703], [102763263, 102763575]]
ENST00000370223	[[102756828, 102756991], [102762253, 102762703], [102763263, 102763923], [102765214, 102765472], [102766241, 102767593]]	[[102762295, 102762703], [102763263, 102763923], [102765214, 102765472], [102766241, 102766925]]
ENST00000489526	[[102756870, 102756991], [102762253, 102762934]]	None
ENST00000429732	[[102758104, 102758167], [102762253, 102762703], [102763263, 102763451]]	[[102762295, 102762703], [102763263, 102763451]]
ENST00000481129	[[102758443, 102758738], [102762253, 102762703]]	[[102762295, 102762703]]
ENST00000370220	[[102759232, 102762703], [102763263, 102763923], [102765214, 102765472], [102766241, 102767593]]	[[102762295, 102762703], [102763263, 102763923], [102765214, 102765472], [102766241, 102766925]]
ENST00000454422	[[102759609, 102759709], [102762253, 102762703], [102763263, 102763517]]	[[102762295, 102762703], [102763263, 102763517]]
NM_032429	[[102756822, 102756991], [102762253, 102762703], [102763263, 102763923], [102765214, 102765472], [102766241, 102767593]]	[[102762295, 102762703], [102763263, 102763923], [102765214, 102765472], [102766241, 102766925]]
NM_001318099	[[102758105, 102758167], [102762253, 102762703], [102763263, 102763923], [102765214, 102765472], [102766241, 102767593]]	[[102762295, 102762703], [102763263, 102763923], [102765214, 102765472], [102766241, 102766925]]
NM_001318100	[[102759570, 102759709], [102762253, 102762703], [102763263, 102763923], [102765214, 102765472], [102766241, 102767593]]	[[102762295, 102762703], [102763263, 102763923], [102765214, 102765472], [102766241, 102766925]]
NM_001318101	[[102762253, 102762703], [102765214, 102765472], [102766241, 102767593]]	[[102762295, 102762703], [102765214, 102765472], [102766241, 102766925]]

Promoter

Chrom	Start	End	Description
chr10	102756800	102756846	CAGE_peak_2_at_LZTS2_5end
chr10	102756849	102756891	CAGE_peak_4_at_LZTS2_5end
chr10	102758029	102758073	CAGE_peak_6_at_LZTS2_5end
chr10	102758133	102758139	CAGE_peak_14_at_LZTS2_5end
chr10	102759045	102759096	CAGE_peak_3_at_LZTS2_5end
chr10	102759506	102759517	CAGE_peak_7_at_LZTS2_5end
chr10	102759530	102759541	CAGE_peak_5_at_LZTS2_5end
chr10	102759545	102759593	CAGE_peak_1_at_LZTS2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I100369	100369042	100375845	2.14	[{'connected_gene': 'OLMALINC', 'score': 550.77}, {'connected_gene': 'PHBP9', 'score': 24.82}, {'connected_gene': 'SEC31B', 'score': 21.93}, {'connected_gene': 'EBAG9P1', 'score': 19.65}, {'connected_gene': 'LOC101927300', 'score': 13.51}, {'connected_gene': 'SCD', 'score': 12.9}, {'connected_gene': 'ENSG00000231188', 'score': 12.9}, {'connected_gene': 'CHUK', 'score': 12.04}, {'connected_gene': 'ENSG00000272572', 'score': 11.31}, {'connected_gene': 'NDUFB8', 'score': 10.5}, {'connected_gene': 'HIF1AN', 'score': 10.5}, {'connected_gene': 'ENSG00000255339', 'score': 10.5}, {'connected_gene': 'LZTS2', 'score': 9.8}, {'connected_gene': 'PDZD7', 'score': 9.67}, {'connected_gene': 'PKD2L1', 'score': 5.7}, {'connected_gene': 'CWF19L1', 'score': 1.52}]
chr10	GH10I101011	101011320	101011904	0.97	[{'connected_gene': 'MRPL43', 'score': 12.68}, {'connected_gene': 'LZTS2', 'score': 0.39}, {'connected_gene': 'PDZD7', 'score': 0.37}]
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	GH10I100885	100885120	100888965	0.89	[{'connected_gene': 'MRPL43', 'score': 21.42}, {'connected_gene': 'LZTS2', 'score': 13.7}, {'connected_gene': 'PHBP9', 'score': 11.47}, {'connected_gene': 'CHUK', 'score': 11.15}, {'connected_gene': 'SLF2', 'score': 10.94}, {'connected_gene': 'ENSG00000272572', 'score': 9.91}, {'connected_gene': 'GC10P100864', 'score': 0.34}, {'connected_gene': 'ENSG00000222072', 'score': 0.34}]
chr10	GH10I101003	101003284	101004462	0.38	[{'connected_gene': 'MRPL43', 'score': 12.59}, {'connected_gene': 'PDZD7', 'score': 4.55}, {'connected_gene': 'LZTS2', '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	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	GH10I100995	100995584	101003024	2.27	[{'connected_gene': 'LZTS2', 'score': 550.77}, {'connected_gene': 'MRPL43', 'score': 14.55}, {'connected_gene': 'SEMA4G', 'score': 12.38}, {'connected_gene': 'MIR608', 'score': 11.84}, {'connected_gene': 'ENSG00000272572', 'score': 10.11}, {'connected_gene': 'KCNIP2', 'score': 5.06}, {'connected_gene': 'PDZD7', 'score': 0.29}]
chr10	GH10I101010	101010296	101010461	0.2	[{'connected_gene': 'LZTS2', 'score': 0.39}, {'connected_gene': 'PDZD7', 'score': 0.34}]
chr10	GH10I101367	101367176	101368644	0.87	[{'connected_gene': 'LZTS2', 'score': 11.46}, {'connected_gene': 'RNU2-43P', 'score': 10.6}, {'connected_gene': 'NOLC1', 'score': 10.58}, {'connected_gene': 'SLF2', 'score': 10.31}, {'connected_gene': 'SEC31B', 'score': 9.95}, {'connected_gene': 'POLL', 'score': 4.6}, {'connected_gene': 'GC10M101365', 'score': 0.77}, {'connected_gene': 'RNU2-59P', 'score': 0.77}, {'connected_gene': 'GC10P101379', 'score': 0.39}, {'connected_gene': 'BTRC', 'score': 0.39}]
chr10	GH10I101018	101018087	101019711	1.14	[{'connected_gene': 'PDZD7', 'score': 0.39}, {'connected_gene': 'LZTS2', 'score': 0.34}]
chr10	GH10I101013	101012048	101012233	0.66	[{'connected_gene': 'PDZD7', 'score': 0.37}, {'connected_gene': 'LZTS2', 'score': 0.37}]
chr10	GH10I101014	101014200	101015958	1.23	[{'connected_gene': 'PDZD7', 'score': 13.04}, {'connected_gene': 'LZTS2', 'score': 0.37}]
chr10	GH10I101026	101026432	101027761	0.52	[{'connected_gene': 'PDZD7', 'score': 5.26}, {'connected_gene': 'LZTS2', 'score': 0.29}]
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	GH10I100156	100156817	100159879	0.67	[{'connected_gene': 'CWF19L1', 'score': 31.86}, {'connected_gene': 'ENSG00000236308', 'score': 22.97}, {'connected_gene': 'EBAG9P1', 'score': 21.09}, {'connected_gene': 'PHBP9', 'score': 19.26}, {'connected_gene': 'ERLIN1', 'score': 16.15}, {'connected_gene': 'DNMBP', 'score': 11.78}, {'connected_gene': 'LZTS2', 'score': 11.43}, {'connected_gene': 'CHUK', 'score': 11.07}, {'connected_gene': 'LOC101927300', 'score': 10.86}, {'connected_gene': 'SLF2', 'score': 10.29}, {'connected_gene': 'SEC31B', 'score': 9.98}, {'connected_gene': 'BLOC1S2', 'score': 8.48}, {'connected_gene': 'SPCS2P2', 'score': 0.39}]
chr10	GH10I101224	101224707	101231200	1.45	[{'connected_gene': 'LBX1-AS1', 'score': 558.42}, {'connected_gene': 'GC10M101227', 'score': 550.77}, {'connected_gene': 'LBX1', 'score': 550.77}, {'connected_gene': 'PHBP9', 'score': 27.38}, {'connected_gene': 'PPRC1', 'score': 26.96}, {'connected_gene': 'LDB1', 'score': 20.66}, {'connected_gene': 'CHUK', 'score': 20.06}, {'connected_gene': 'ENSG00000272572', 'score': 11.34}, {'connected_gene': 'C10orf76', 'score': 11.08}, {'connected_gene': 'SEC31B', 'score': 10.92}, {'connected_gene': 'MRPL43', 'score': 10.59}, {'connected_gene': 'HPS6', 'score': 9.88}, {'connected_gene': 'LZTS2', 'score': 9.84}, {'connected_gene': 'PDZD7', 'score': 9.72}, {'connected_gene': 'SFXN3', 'score': 4.16}]
chr10	GH10I100283	100283748	100289220	2.06	[{'connected_gene': 'BLOC1S2', 'score': 587.0}, {'connected_gene': 'CWF19L1', 'score': 33.33}, {'connected_gene': 'EBAG9P1', 'score': 16.54}, {'connected_gene': 'RNU6-422P', 'score': 11.44}, {'connected_gene': 'SLC25A28', 'score': 10.91}, {'connected_gene': 'MRPL43', 'score': 10.17}, {'connected_gene': 'LZTS2', 'score': 9.77}, {'connected_gene': 'ERLIN1', 'score': 4.5}, {'connected_gene': 'PKD2L1', 'score': 0.21}]
chr10	GH10I100481	100481449	100483400	1.14	[{'connected_gene': 'SEC31B', 'score': 57.94}, {'connected_gene': 'MRPL43', 'score': 17.16}, {'connected_gene': 'NDUFB8', 'score': 11.1}, {'connected_gene': 'HIF1AN', 'score': 11.1}, {'connected_gene': 'ENSG00000255339', 'score': 11.1}, {'connected_gene': 'SLC25A28', 'score': 10.78}, {'connected_gene': 'LZTS2', 'score': 10.05}, {'connected_gene': 'LOC105378452', 'score': 0.77}, {'connected_gene': 'WNT8B', 'score': 0.37}, {'connected_gene': 'GC10M100500', 'score': 0.37}]
chr10	GH10I101569	101569784	101571147	1.43	[{'connected_gene': 'DPCD', 'score': 550.77}, {'connected_gene': 'LZTS2', 'score': 14.67}, {'connected_gene': 'PPRC1', 'score': 11.16}, {'connected_gene': 'BTRC', 'score': 4.52}, {'connected_gene': 'PIR58090', 'score': 0.37}, {'connected_gene': 'GC10P101487', '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	GH10I100228	100228591	100230394	2.05	[{'connected_gene': 'CHUK', 'score': 561.65}, {'connected_gene': 'ENSG00000227492', 'score': 550.77}, {'connected_gene': 'BLOC1S2', 'score': 36.46}, {'connected_gene': 'EBAG9P1', 'score': 26.06}, {'connected_gene': 'MRPL43', 'score': 25.49}, {'connected_gene': 'CWF19L1', 'score': 21.49}, {'connected_gene': 'SLC25A28', 'score': 19.97}, {'connected_gene': 'PHBP9', 'score': 19.46}, {'connected_gene': 'LZTS2', 'score': 18.12}, {'connected_gene': 'ENSG00000236308', 'score': 12.22}, {'connected_gene': 'DNMBP', 'score': 11.74}, {'connected_gene': 'ENSG00000272572', 'score': 11.31}, {'connected_gene': 'PDZD7', 'score': 9.66}]
chr10	GH10I101835	101835862	101841433	1.94	[{'connected_gene': 'LOC101927445', 'score': 550.77}, {'connected_gene': 'KCNIP2', 'score': 550.44}, {'connected_gene': 'HPS6', 'score': 18.43}, {'connected_gene': 'LZTS2', 'score': 11.43}, {'connected_gene': 'NOLC1', 'score': 10.61}, {'connected_gene': 'SLF2', 'score': 10.29}, {'connected_gene': 'NPM3', 'score': 6.35}, {'connected_gene': 'SUFU', 'score': 4.44}, {'connected_gene': 'MRPL43', 'score': 4.4}, {'connected_gene': 'GC10M101802', 'score': 0.39}, {'connected_gene': 'KCNIP2-AS1', 'score': 0.37}]
chr10	GH10I100642	100642065	100643080	0.46	[{'connected_gene': 'EBAG9P1', 'score': 11.47}, {'connected_gene': 'LZTS2', 'score': 11.46}, {'connected_gene': 'SLF2', 'score': 10.33}, {'connected_gene': 'SEC31B', 'score': 10.05}, {'connected_gene': 'HIF1AN', 'score': 4.79}, {'connected_gene': 'ENSG00000274660', 'score': 0.34}, {'connected_gene': 'NDUFB8', 'score': 0.14}]
chr10	GH10I100687	100687324	100689228	1.07	[{'connected_gene': 'PHBP9', 'score': 15.05}, {'connected_gene': 'CHUK', 'score': 11.97}, {'connected_gene': 'EBAG9P1', 'score': 10.2}, {'connected_gene': 'LZTS2', 'score': 9.83}, {'connected_gene': 'GC10P100685', 'score': 0.77}, {'connected_gene': 'GC10M100694', 'score': 0.44}]
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	GH10I101012	101012301	101013896	1.3	[{'connected_gene': 'ENSG00000272572', 'score': 5.18}, {'connected_gene': 'SFXN3', 'score': 4.53}, {'connected_gene': 'PDZD7', 'score': 0.37}, {'connected_gene': 'LZTS2', 'score': 0.37}]
chr10	GH10I100696	100696664	100696813	0.69	[{'connected_gene': 'GC10M100694', 'score': 550.77}, {'connected_gene': 'EBAG9P1', 'score': 15.07}, {'connected_gene': 'MRPL43', 'score': 13.39}, {'connected_gene': 'LZTS2', 'score': 11.42}, {'connected_gene': 'PAX2', 'score': 11.39}, {'connected_gene': 'GC10P100685', 'score': 0.39}]
chr10	GH10I100668	100668296	100668559	0.84	[{'connected_gene': 'ENSG00000274660', 'score': 550.77}, {'connected_gene': 'EBAG9P1', 'score': 14.62}, {'connected_gene': 'LZTS2', 'score': 14.55}, {'connected_gene': 'MRPL43', 'score': 11.94}, {'connected_gene': 'PHBP9', 'score': 9.69}, {'connected_gene': 'HIF1AN', 'score': 4.66}, {'connected_gene': 'GC10M100669', 'score': 0.77}]