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
ENST00000274459	[[115163892, 115167560], [115168298, 115168361], [115173324, 115173461], [115177086, 115177548]]	[[115167500, 115167560], [115168298, 115168361], [115173324, 115173461], [115177086, 115177390]]
ENST00000509910	[[115163896, 115167560], [115168298, 115168361], [115173324, 115173461], [115177086, 115177555]]	[[115167500, 115167560], [115168298, 115168361], [115173324, 115173461], [115177086, 115177249]]
ENST00000505252	[[115166037, 115167560], [115168298, 115170049]]	None
ENST00000500945	[[115166369, 115167560], [115168298, 115168361], [115177086, 115177262]]	[[115168299, 115168361], [115177086, 115177249]]
ENST00000507793	[[115166971, 115167560], [115168298, 115168361], [115169208, 115169363]]	None
ENST00000513292	[[115167175, 115167560], [115168298, 115168361], [115170614, 115170858]]	None
ENST00000508464	[[115167184, 115167560], [115168298, 115168361], [115169208, 115169295], [115173324, 115174009]]	None
ENST00000513322	[[115167208, 115167560], [115168298, 115168361], [115173324, 115173461], [115176514, 115177520]]	[[115177078, 115177249]]
ENST00000511984	[[115167210, 115167560], [115168298, 115168361], [115173324, 115173478]]	None
ENST00000379594	[[115167242, 115167560], [115168298, 115168361], [115173324, 115173461], [115176193, 115176309], [115177086, 115177534]]	[[115176244, 115176309], [115177086, 115177249]]
ENST00000509598	[[115167278, 115167560], [115168298, 115168361], [115173324, 115173461], [115173567, 115175191]]	None
ENST00000505993	[[115167280, 115167560], [115168298, 115168361], [115173324, 115173461], [115176514, 115176631], [115177086, 115177262]]	[[115176608, 115176631], [115177086, 115177262]]
ENST00000513167	[[115167416, 115167560], [115168298, 115168361], [115173324, 115173461], [115176193, 115176309], [115176514, 115176631], [115177086, 115177241]]	[[115176608, 115176631], [115177086, 115177241]]
ENST00000514775	[[115176248, 115176631], [115177086, 115177256]]	None
NR_073603	[[115163892, 115167560], [115168298, 115168361], [115173324, 115173461], [115176193, 115176309], [115176514, 115176631], [115177086, 115177548]]	None
NR_033362	[[115163892, 115167560], [115168298, 115168361], [115173324, 115173461], [115176514, 115176631], [115177086, 115177548]]	None
NR_033363	[[115163892, 115167560], [115168298, 115168361], [115173324, 115173461], [115176193, 115176309], [115177086, 115177548]]	None
NM_004707	[[115163892, 115167560], [115168298, 115168361], [115173324, 115173461], [115177086, 115177548]]	[[115167500, 115167560], [115168298, 115168361], [115173324, 115173461], [115177086, 115177249]]
NM_001277783	[[115163892, 115167560], [115168298, 115168361], [115177086, 115177548]]	[[115168299, 115168361], [115177086, 115177249]]

Promoter

Chrom	Start	End	Description
chr5	115177247	115177279	CAGE_peak_1_at_ATG12_5end
chr5	115177496	115177558	CAGE_peak_2_at_ATG12_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I116558	116558831	116560922	0.86	[{'connected_gene': 'ATG12', 'score': 10.05}, {'connected_gene': 'RPS14P8', 'score': 0.77}, {'connected_gene': 'GC05M116552', 'score': 0.44}, {'connected_gene': 'GC05P116544', 'score': 0.37}, {'connected_gene': 'SEMA6A', 'score': 0.37}]
chr5	GH05I115838	115838982	115845270	2.11	[{'connected_gene': 'ATG12', 'score': 565.2}, {'connected_gene': 'AP3S1', 'score': 550.77}, {'connected_gene': 'CDO1', 'score': 34.46}, {'connected_gene': 'ENSG00000250015', 'score': 12.59}, {'connected_gene': 'PGGT1B', 'score': 10.65}, {'connected_gene': 'SEMA6A-AS1', 'score': 10.12}, {'connected_gene': 'GC05M115886', 'score': 0.26}]
chr5	GH05I116539	116539971	116541720	0.38	[{'connected_gene': 'ATG12', 'score': 10.05}, {'connected_gene': 'SEMA6A-AS1', 'score': 9.96}, {'connected_gene': 'GC05P116544', 'score': 0.77}, {'connected_gene': 'SEMA6A', 'score': 0.29}]
chr5	GH05I116759	116759076	116761070	0.72	[{'connected_gene': 'SEMA6A', 'score': 11.58}, {'connected_gene': 'SEMA6A-AS2', 'score': 11.58}, {'connected_gene': 'ATG12', 'score': 4.25}, {'connected_gene': 'LINC02214', 'score': 0.77}, {'connected_gene': 'RPS17P2', 'score': 0.26}, {'connected_gene': 'GC05M116739', 'score': 0.23}]
chr5	GH05I115540	115540600	115545690	2.31	[{'connected_gene': 'FEM1C', 'score': 555.82}, {'connected_gene': 'SEMA6A-AS1', 'score': 37.15}, {'connected_gene': 'ENSG00000250015', 'score': 34.41}, {'connected_gene': 'ATG12', 'score': 19.19}, {'connected_gene': 'LOC101927100', 'score': 17.28}, {'connected_gene': 'TICAM2', 'score': 16.74}, {'connected_gene': 'PGGT1B', 'score': 10.69}, {'connected_gene': 'TMED7-TICAM2', 'score': 10.51}, {'connected_gene': 'TMED7', 'score': 6.14}, {'connected_gene': 'CCT5P1', 'score': 0.29}]
chr5	GH05I115261	115261544	115263700	2.05	[{'connected_gene': 'PGGT1B', 'score': 561.98}, {'connected_gene': 'ENSG00000271797', 'score': 550.77}, {'connected_gene': 'ATG12', 'score': 13.06}, {'connected_gene': 'CCDC112', 'score': 4.91}]
chr5	GH05I116075	116075704	116075853	0.38	[{'connected_gene': 'LVRN', 'score': 10.92}, {'connected_gene': 'AP3S1', 'score': 10.49}, {'connected_gene': 'ATG12', 'score': 10.49}, {'connected_gene': 'TMED7', 'score': 10.43}, {'connected_gene': 'ENSG00000272265', 'score': 0.77}, {'connected_gene': 'RPS25P6', 'score': 0.34}]
chr5	GH05I115990	115990451	115994501	0.31	[{'connected_gene': 'LVRN', 'score': 26.27}, {'connected_gene': 'AP3S1', 'score': 15.33}, {'connected_gene': 'ATG12', 'score': 9.82}, {'connected_gene': 'RNU2-49P', 'score': 8.84}, {'connected_gene': 'ENSG00000251118', 'score': 8.84}, {'connected_gene': 'DDX43P1', 'score': 0.37}, {'connected_gene': 'ARL14EPL', 'score': 0.28}]
chr5	GH05I115994	115994590	115996425	0.2	[{'connected_gene': 'LVRN', 'score': 26.89}, {'connected_gene': 'AP3S1', 'score': 14.62}, {'connected_gene': 'ATG12', 'score': 9.82}, {'connected_gene': 'RNU2-49P', 'score': 8.56}, {'connected_gene': 'ENSG00000251118', 'score': 8.56}, {'connected_gene': 'DDX43P1', 'score': 0.37}, {'connected_gene': 'ARL14EPL', 'score': 0.28}]
chr5	GH05I115549	115549244	115549433	0.68	[{'connected_gene': 'CCDC112', 'score': 11.72}, {'connected_gene': 'TICAM2', 'score': 11.3}, {'connected_gene': 'LOC101927100', 'score': 11.3}, {'connected_gene': 'TMED7-TICAM2', 'score': 11.25}, {'connected_gene': 'TMED7', 'score': 11.13}, {'connected_gene': 'AP3S1', 'score': 10.16}, {'connected_gene': 'ATG12', 'score': 10.16}, {'connected_gene': 'FEM1C', 'score': 0.77}, {'connected_gene': 'GC05P115575', 'score': 0.31}]
chr5	GH05I115551	115551004	115551943	0.62	[{'connected_gene': 'CCDC112', 'score': 11.72}, {'connected_gene': 'TICAM2', 'score': 11.3}, {'connected_gene': 'LOC101927100', 'score': 11.3}, {'connected_gene': 'TMED7-TICAM2', 'score': 11.26}, {'connected_gene': 'TMED7', 'score': 11.13}, {'connected_gene': 'AP3S1', 'score': 10.16}, {'connected_gene': 'ATG12', 'score': 10.16}, {'connected_gene': 'FEM1C', 'score': 0.44}, {'connected_gene': 'GC05P115575', 'score': 0.34}]
chr5	GH05I115869	115869325	115869690	0.53	[{'connected_gene': 'AP3S1', 'score': 11.95}, {'connected_gene': 'ATG12', 'score': 11.95}, {'connected_gene': 'LVRN', 'score': 10.89}, {'connected_gene': 'FEM1C', 'score': 2.45}, {'connected_gene': 'GC05M115886', 'score': 0.37}]
chr5	GH05I115846	115846926	115848077	0.49	[{'connected_gene': 'AP3S1', 'score': 0.44}, {'connected_gene': 'ATG12', 'score': 0.44}, {'connected_gene': 'GC05M115886', 'score': 0.28}]
chr5	GH05I115845	115845401	115845800	0.63	[{'connected_gene': 'AP3S1', 'score': 0.77}, {'connected_gene': 'ATG12', 'score': 0.77}, {'connected_gene': 'GC05M115886', 'score': 0.26}]
chr5	GH05I115857	115856084	115856233	0.56	[{'connected_gene': 'AP3S1', 'score': 0.39}, {'connected_gene': 'ATG12', 'score': 0.39}, {'connected_gene': 'GC05M115886', 'score': 0.29}]
chr5	GH05I115831	115831244	115831393	0.75	[{'connected_gene': 'AP3S1', 'score': 0.39}, {'connected_gene': 'CDO1', 'score': 0.39}, {'connected_gene': 'ATG12', 'score': 0.39}]
chr5	GH05I115774	115774172	115775379	0.31	[{'connected_gene': 'RNU2-49P', 'score': 550.77}, {'connected_gene': 'GC05M115775', 'score': 550.77}, {'connected_gene': 'AP3S1', 'score': 9.52}, {'connected_gene': 'ATG12', 'score': 9.52}, {'connected_gene': 'CDO1', 'score': 0.26}]
chr5	GH05I115815	115815698	115817350	1.89	[{'connected_gene': 'CDO1', 'score': 583.17}, {'connected_gene': 'ATG12', 'score': 16.12}, {'connected_gene': 'PGGT1B', 'score': 11.24}, {'connected_gene': 'RNU2-49P', 'score': 0.26}, {'connected_gene': 'GC05M115775', 'score': 0.26}]
chr5	GH05I115806	115806379	115807608	0.49	[{'connected_gene': 'CDO1', 'score': 30.25}, {'connected_gene': 'RNU2-49P', 'score': 11.1}, {'connected_gene': 'ENSG00000251118', 'score': 11.09}, {'connected_gene': 'AP3S1', 'score': 10.66}, {'connected_gene': 'ATG12', 'score': 10.66}, {'connected_gene': 'TMED7', 'score': 9.84}, {'connected_gene': 'TMED7-TICAM2', 'score': 9.7}, {'connected_gene': 'GC05M115775', 'score': 0.29}]
chr5	GH05I115856	115856288	115858395	1.02	[{'connected_gene': 'ENSG00000250015', 'score': 10.89}, {'connected_gene': 'PGGT1B', 'score': 9.85}, {'connected_gene': 'AP3S1', 'score': 9.68}, {'connected_gene': 'CDO1', 'score': 6.19}, {'connected_gene': 'ATG12', 'score': 0.37}, {'connected_gene': 'GC05M115886', 'score': 0.31}]
chr5	GH05I116076	116076436	116077000	1.1	[{'connected_gene': 'ENSG00000272265', 'score': 555.59}, {'connected_gene': 'LVRN', 'score': 10.92}, {'connected_gene': 'ATG12', 'score': 10.49}, {'connected_gene': 'AP3S1', 'score': 10.49}, {'connected_gene': 'TMED7', 'score': 10.48}, {'connected_gene': 'COMMD10', 'score': 6.56}, {'connected_gene': 'ENSG00000271918', 'score': 5.5}, {'connected_gene': 'RPS25P6', 'score': 0.34}]
chr5	GH05I115884	115884607	115886137	0.66	[{'connected_gene': 'GC05M115886', 'score': 550.77}, {'connected_gene': 'AP3S1', 'score': 10.6}, {'connected_gene': 'ATG12', 'score': 10.6}, {'connected_gene': 'LVRN', 'score': 10.54}, {'connected_gene': 'TMED7-TICAM2', 'score': 9.93}, {'connected_gene': 'TMED7', 'score': 9.93}, {'connected_gene': 'CDO1', 'score': 9.48}, {'connected_gene': 'RNU2-49P', 'score': 9.17}, {'connected_gene': 'ENSG00000251118', 'score': 9.17}]
chr5	GH05I115927	115927986	115932576	1.09	[{'connected_gene': 'GC05M115931', 'score': 550.77}, {'connected_gene': 'ENSG00000250015', 'score': 32.02}, {'connected_gene': 'SEMA6A-AS1', 'score': 20.89}, {'connected_gene': 'ATG12', 'score': 20.02}, {'connected_gene': 'LVRN', 'score': 11.94}, {'connected_gene': 'PGGT1B', 'score': 9.85}, {'connected_gene': 'GC05M115886', 'score': 0.26}]