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
ENST00000608620	[[90424197, 90424248], [90427043, 90427159], [90427325, 90427443], [90428413, 90428513], [90429593, 90429703], [90431585, 90431722], [90433344, 90433491], [90435342, 90435414], [90435965, 90436037], [90438201, 90438568]]	[[90427054, 90427159], [90427325, 90427443], [90428413, 90428513], [90429593, 90429703], [90431585, 90431722], [90433344, 90433491], [90435342, 90435414], [90435965, 90436037], [90438201, 90438438]]
ENST00000394375	[[90424197, 90424248], [90425235, 90425316], [90427043, 90427159], [90427325, 90427443], [90428314, 90428513], [90429593, 90429703], [90431585, 90431722], [90433344, 90433491], [90435342, 90435414], [90435965, 90436037], [90438201, 90438568]]	[[90425297, 90425316], [90427043, 90427159], [90427325, 90427443], [90428314, 90428513], [90429593, 90429703], [90431585, 90431722], [90433344, 90433491], [90435342, 90435414], [90435965, 90436037], [90438201, 90438438]]
ENST00000609378	[[90424198, 90424248], [90427043, 90427159], [90427325, 90427443], [90428314, 90429295]]	None
ENST00000238983	[[90424213, 90424248], [90427043, 90427159], [90427325, 90427443], [90428314, 90428513], [90429593, 90429703], [90431585, 90431722], [90433344, 90433491], [90435342, 90435414], [90435965, 90436037], [90438201, 90438571]]	[[90427054, 90427159], [90427325, 90427443], [90428314, 90428513], [90429593, 90429703], [90431585, 90431722], [90433344, 90433491], [90435342, 90435414], [90435965, 90436037], [90438201, 90438438]]
ENST00000355843	[[90424214, 90424248], [90425235, 90425316], [90427043, 90427159], [90427325, 90427443], [90428413, 90428513], [90429593, 90429703], [90431585, 90431722], [90433344, 90433491], [90435342, 90435414], [90435965, 90436037], [90438201, 90438571]]	[[90425297, 90425316], [90427043, 90427159], [90427325, 90427443], [90428413, 90428513], [90429593, 90429703], [90431585, 90431722], [90433344, 90433491], [90435342, 90435414], [90435965, 90436037], [90438201, 90438438]]
ENST00000496797	[[90435249, 90435414], [90435965, 90436037], [90438201, 90438271]]	None
NM_001198828	[[90424145, 90424248], [90427043, 90427159], [90427325, 90427443], [90428413, 90428513], [90429593, 90429703], [90431585, 90431722], [90433344, 90433491], [90435342, 90435414], [90435965, 90436037], [90438201, 90438572]]	[[90427054, 90427159], [90427325, 90427443], [90428413, 90428513], [90429593, 90429703], [90431585, 90431722], [90433344, 90433491], [90435342, 90435414], [90435965, 90436037], [90438201, 90438438]]
NM_004190	[[90424145, 90424248], [90427043, 90427159], [90427325, 90427443], [90428314, 90428513], [90429593, 90429703], [90431585, 90431722], [90433344, 90433491], [90435342, 90435414], [90435965, 90436037], [90438201, 90438572]]	[[90427054, 90427159], [90427325, 90427443], [90428314, 90428513], [90429593, 90429703], [90431585, 90431722], [90433344, 90433491], [90435342, 90435414], [90435965, 90436037], [90438201, 90438438]]
NM_001198830	[[90424145, 90424248], [90425235, 90425316], [90427043, 90427159], [90427325, 90427443], [90428413, 90428513], [90429593, 90429703], [90431585, 90431722], [90433344, 90433491], [90435342, 90435414], [90435965, 90436037], [90438201, 90438572]]	[[90425297, 90425316], [90427043, 90427159], [90427325, 90427443], [90428413, 90428513], [90429593, 90429703], [90431585, 90431722], [90433344, 90433491], [90435342, 90435414], [90435965, 90436037], [90438201, 90438438]]
NM_001198829	[[90424145, 90424248], [90425235, 90425316], [90427043, 90427159], [90427325, 90427443], [90428314, 90428513], [90429593, 90429703], [90431585, 90431722], [90433344, 90433491], [90435342, 90435414], [90435965, 90436037], [90438201, 90438572]]	[[90425297, 90425316], [90427043, 90427159], [90427325, 90427443], [90428314, 90428513], [90429593, 90429703], [90431585, 90431722], [90433344, 90433491], [90435342, 90435414], [90435965, 90436037], [90438201, 90438438]]

Promoter

Chrom	Start	End	Description
chr10	90424196	90424203	CAGE_peak_1_at_LIPF_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I088477	88477288	88479257	0.46	[{'connected_gene': 'LIPF', 'score': 10.36}, {'connected_gene': 'ANKRD22', 'score': 4.89}, {'connected_gene': 'GC10M088413', 'score': 0.23}, {'connected_gene': 'LIPJ', 'score': 0.14}, {'connected_gene': 'RNLS', 'score': 0.14}]
chr10	GH10I088664	88664397	88664456	0.5	[{'connected_gene': 'LIPF', 'score': 550.77}, {'connected_gene': 'NAPGP1', 'score': 0.28}]
chr10	GH10I088820	88820537	88821846	0.54	[{'connected_gene': 'LIPN', 'score': 18.92}, {'connected_gene': 'LIPF', 'score': 10.93}, {'connected_gene': 'ENSG00000201548', 'score': 9.9}, {'connected_gene': 'LIPJ', 'score': 9.9}, {'connected_gene': 'RNLS', 'score': 9.9}, {'connected_gene': 'LIPM', 'score': 0.37}, {'connected_gene': 'ANKRD22', 'score': 0.29}]
chr10	GH10I088759	88759274	88761600	0.69	[{'connected_gene': 'LIPN', 'score': 30.48}, {'connected_gene': 'LIPM', 'score': 10.21}, {'connected_gene': 'LIPF', 'score': 9.75}, {'connected_gene': 'LIPK', 'score': 6.18}, {'connected_gene': 'RCBTB2P1', 'score': 0.31}]
chr10	GH10I088949	88949908	88954174	2.23	[{'connected_gene': 'ACTA2', 'score': 556.99}, {'connected_gene': 'STAMBPL1', 'score': 10.99}, {'connected_gene': 'CH25H', 'score': 5.98}, {'connected_gene': 'LIPF', 'score': 2.44}, {'connected_gene': 'FAS', 'score': 0.37}, {'connected_gene': 'ACTA2-AS1', 'score': 0.37}, {'connected_gene': 'GC10M088853', 'score': 0.25}]
chr10	GH10I088643	88643124	88643273	0.46	[{'connected_gene': 'RPL7P34', 'score': 0.34}, {'connected_gene': 'LIPF', 'score': 0.34}]
chr10	GH10I088824	88824164	88827226	0.69	[{'connected_gene': 'ANKRD22', 'score': 17.0}, {'connected_gene': 'LIPM', 'score': 16.08}, {'connected_gene': 'ACTA2-AS1', 'score': 11.41}, {'connected_gene': 'STAMBPL1', 'score': 11.32}, {'connected_gene': 'LIPJ', 'score': 10.23}, {'connected_gene': 'RNLS', 'score': 10.23}, {'connected_gene': 'ENSG00000201548', 'score': 10.23}, {'connected_gene': 'LIPF', 'score': 10.07}, {'connected_gene': 'FAS', 'score': 10.02}, {'connected_gene': 'LIPN', 'score': 9.8}]
chr10	GH10I088833	88833844	88834033	0.6	[{'connected_gene': 'ANKRD22', 'score': 12.11}, {'connected_gene': 'ACTA2-AS1', 'score': 11.82}, {'connected_gene': 'STAMBPL1', 'score': 11.22}, {'connected_gene': 'LIPM', 'score': 9.92}, {'connected_gene': 'LIPF', 'score': 9.01}, {'connected_gene': 'LIPN', 'score': 3.72}, {'connected_gene': 'FAS', 'score': 3.36}, {'connected_gene': 'LIPK', 'score': 3.31}, {'connected_gene': 'IFIT3', 'score': 1.54}, {'connected_gene': 'IFIT2', 'score': 1.16}]
chr10	GH10I088837	88837652	88838051	0.3	[{'connected_gene': 'ANKRD22', 'score': 19.83}, {'connected_gene': 'ACTA2-AS1', 'score': 11.82}, {'connected_gene': 'STAMBPL1', 'score': 11.23}, {'connected_gene': 'LIPM', 'score': 9.9}, {'connected_gene': 'LIPF', 'score': 9.0}, {'connected_gene': 'IFIT3', 'score': 4.35}, {'connected_gene': 'IFIT2', 'score': 2.77}, {'connected_gene': 'LIPN', 'score': 1.26}]
chr10	GH10I088831	88831804	88831993	0.31	[{'connected_gene': 'ANKRD22', 'score': 11.8}, {'connected_gene': 'ACTA2-AS1', 'score': 11.74}, {'connected_gene': 'STAMBPL1', 'score': 10.97}, {'connected_gene': 'LIPM', 'score': 10.51}, {'connected_gene': 'LIPJ', 'score': 9.96}, {'connected_gene': 'RNLS', 'score': 9.96}, {'connected_gene': 'ENSG00000201548', 'score': 9.96}, {'connected_gene': 'LIPF', 'score': 9.62}]
chr10	GH10I088830	88830653	88831134	0.38	[{'connected_gene': 'ANKRD22', 'score': 19.37}, {'connected_gene': 'ACTA2-AS1', 'score': 11.74}, {'connected_gene': 'STAMBPL1', 'score': 10.97}, {'connected_gene': 'LIPM', 'score': 10.51}, {'connected_gene': 'LIPJ', 'score': 9.96}, {'connected_gene': 'RNLS', 'score': 9.96}, {'connected_gene': 'ENSG00000201548', 'score': 9.96}, {'connected_gene': 'LIPF', 'score': 9.62}]
chr10	GH10I088835	88835054	88836030	1.23	[{'connected_gene': 'ACTA2-AS1', 'score': 11.82}, {'connected_gene': 'STAMBPL1', 'score': 11.23}, {'connected_gene': 'LIPM', 'score': 9.92}, {'connected_gene': 'LIPF', 'score': 9.0}, {'connected_gene': 'ANKRD22', 'score': 5.67}, {'connected_gene': 'FAS', 'score': 2.04}, {'connected_gene': 'LIPN', 'score': 2.0}, {'connected_gene': 'IFIT3', 'score': 1.85}, {'connected_gene': 'IFIT2', 'score': 1.14}]
chr10	GH10I088650	88650831	88652645	0.8	[{'connected_gene': 'ENSG00000201548', 'score': 9.91}, {'connected_gene': 'LIPJ', 'score': 9.91}, {'connected_gene': 'RNLS', 'score': 9.91}, {'connected_gene': 'LIPN', 'score': 5.19}, {'connected_gene': 'LIPF', 'score': 0.39}, {'connected_gene': 'RPL7P34', 'score': 0.29}]