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
ENST00000543470	[[213224588, 213224851], [213244347, 213244383], [213246211, 213246328], [213251037, 213251158], [213277795, 213277911], [213290658, 213290752], [213302869, 213303232], [213341200, 213341316], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213446127]]	[[213302940, 213303232], [213341200, 213341316], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213445977]]
ENST00000366959	[[213224596, 213224851], [213251037, 213251158], [213277795, 213277911], [213290658, 213290752], [213302869, 213303232], [213341200, 213341316], [213349742, 213349835], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213448116]]	[[213224746, 213224851], [213251037, 213251158], [213277795, 213277911], [213290658, 213290752], [213302869, 213303232], [213341200, 213341316], [213349742, 213349835], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213445977]]
ENST00000366960	[[213224596, 213224851], [213244347, 213244383], [213251037, 213251158], [213277795, 213277911], [213290658, 213290752], [213302869, 213303232], [213341200, 213341316], [213349742, 213349835], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213448116]]	[[213224746, 213224851], [213244347, 213244383], [213251037, 213251158], [213277795, 213277911], [213290658, 213290752], [213302869, 213303232], [213341200, 213341316], [213349742, 213349835], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213445977]]
ENST00000543354	[[213224603, 213224851], [213251037, 213251158], [213277795, 213277911], [213341200, 213341316], [213349742, 213349835], [213403839, 213403887], [213405465, 213405598], [213414044, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213445887]]	[[213341256, 213341316], [213349742, 213349835], [213403839, 213403887], [213405465, 213405598], [213414044, 213415693]]
ENST00000490299	[[213246279, 213246328], [213251037, 213251158], [213277795, 213277911], [213302869, 213303232], [213341200, 213341316], [213349742, 213349835], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213448116]]	None
ENST00000468069	[[213302869, 213303232], [213341200, 213341316], [213349742, 213350047]]	None
ENST00000491616	[[213415402, 213416001], [213434900, 213434983], [213436063, 213436159]]	None
NM_001136138	[[213224574, 213224851], [213251037, 213251158], [213277795, 213277911], [213290658, 213290752], [213302869, 213303232], [213341200, 213341316], [213349742, 213349835], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213446808]]	[[213224746, 213224851], [213251037, 213251158], [213277795, 213277911], [213290658, 213290752], [213302869, 213303232], [213341200, 213341316], [213349742, 213349835], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213445977]]
NM_001287221	[[213224574, 213224851], [213244347, 213244383], [213277795, 213277911], [213290658, 213290752], [213302869, 213303232], [213341200, 213341316], [213349742, 213349835], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213446808]]	[[213302940, 213303232], [213341200, 213341316], [213349742, 213349835], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213445977]]
NM_001287220	[[213224574, 213224851], [213244347, 213244383], [213251037, 213251158], [213277795, 213277911], [213290658, 213290752], [213302869, 213303232], [213341200, 213341316], [213349742, 213349835], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213446808]]	[[213414214, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213445977]]
NM_012424	[[213224574, 213224851], [213244347, 213244383], [213251037, 213251158], [213277795, 213277911], [213290658, 213290752], [213302869, 213303232], [213341200, 213341316], [213349742, 213349835], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213446808]]	[[213224746, 213224851], [213244347, 213244383], [213251037, 213251158], [213277795, 213277911], [213290658, 213290752], [213302869, 213303232], [213341200, 213341316], [213349742, 213349835], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213445977]]
NM_001287218	[[213224574, 213224851], [213244347, 213244383], [213251037, 213251158], [213277795, 213277911], [213290658, 213290752], [213299108, 213299186], [213302869, 213303232], [213341200, 213341316], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213446808]]	[[213302940, 213303232], [213341200, 213341316], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213445977]]
NM_001287219	[[213224574, 213224851], [213244347, 213244383], [213246211, 213246328], [213251037, 213251158], [213277795, 213277911], [213290658, 213290752], [213302869, 213303232], [213341200, 213341316], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213446808]]	[[213302940, 213303232], [213341200, 213341316], [213403839, 213403887], [213405465, 213405598], [213414044, 213415640], [213415911, 213416001], [213434900, 213434983], [213436063, 213436159], [213445866, 213445977]]

Promoter

Chrom	Start	End	Description
chr1	213224572	213224686	CAGE_peak_1_at_RPS6KC1_5end
chr1	213224687	213224698	CAGE_peak_2_at_RPS6KC1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I213123	213123802	213125141	0.87	[{'connected_gene': 'ANGEL2', 'score': 6.83}, {'connected_gene': 'GC01P213058', 'score': 0.2}, {'connected_gene': 'RPS6KC1', 'score': 0.19}, {'connected_gene': 'GC01P213252', 'score': 0.13}]
chr1	GH01I212949	212949974	212956597	2.49	[{'connected_gene': 'VASH2', 'score': 557.12}, {'connected_gene': 'RPS6KC1', 'score': 6.01}, {'connected_gene': 'TATDN3', 'score': 4.55}, {'connected_gene': 'ANGEL2', 'score': 0.21}]
chr1	GH01I212681	212681131	212681531	0.6	[{'connected_gene': 'BATF3', 'score': 4.75}, {'connected_gene': 'ATF3', 'score': 2.66}, {'connected_gene': 'RPS6KC1', 'score': 1.35}, {'connected_gene': 'GC01P212693', 'score': 0.39}, {'connected_gene': 'LOC102723761', 'score': 0.37}]
chr1	GH01I212670	212670899	212672200	1.23	[{'connected_gene': 'BATF3', 'score': 17.99}, {'connected_gene': 'ATF3', 'score': 2.51}, {'connected_gene': 'RPS6KC1', 'score': 1.28}, {'connected_gene': 'LOC102723761', 'score': 0.44}, {'connected_gene': 'GC01P212693', 'score': 0.34}]
chr1	GH01I212682	212682038	212682183	0.5	[{'connected_gene': 'ATF3', 'score': 2.49}, {'connected_gene': 'RPS6KC1', 'score': 1.43}, {'connected_gene': 'GC01P212693', 'score': 0.39}, {'connected_gene': 'LOC102723761', 'score': 0.37}]
chr1	GH01I213050	213050183	213053260	2.07	[{'connected_gene': 'RPS6KC1', 'score': 589.57}, {'connected_gene': 'ANGEL2', 'score': 11.93}, {'connected_gene': 'PPP2R5A', 'score': 4.38}, {'connected_gene': 'GC01P213058', 'score': 0.44}]
chr1	GH01I213008	213008679	213008828	0.52	[{'connected_gene': 'RPS6KC1', 'score': 37.07}, {'connected_gene': 'VASH2', 'score': 10.56}, {'connected_gene': 'ANGEL2', 'score': 0.44}, {'connected_gene': 'GC01M213006', 'score': 0.34}]
chr1	GH01I212967	212967289	212969236	0.99	[{'connected_gene': 'RPS6KC1', 'score': 7.78}, {'connected_gene': 'VASH2', 'score': 0.29}, {'connected_gene': 'ANGEL2', 'score': 0.25}]
chr1	GH01I212977	212977359	212982937	1.49	[{'connected_gene': 'RPS6KC1', 'score': 20.86}, {'connected_gene': 'VASH2', 'score': 13.4}, {'connected_gene': 'BATF3', 'score': 12.93}, {'connected_gene': 'ANGEL2', 'score': 12.08}, {'connected_gene': 'TATDN3', 'score': 1.35}]
chr1	GH01I213320	213320261	213320484	0.4	[{'connected_gene': 'RPS6KC1', 'score': 8.29}, {'connected_gene': 'GC01P213252', 'score': 0.2}, {'connected_gene': 'GC01P213400', 'score': 0.18}]
chr1	GH01I212634	212634528	212640217	1.67	[{'connected_gene': 'LOC105372909', 'score': 550.77}, {'connected_gene': 'ATF3', 'score': 12.25}, {'connected_gene': 'BATF3', 'score': 10.81}, {'connected_gene': 'RPS6KC1', 'score': 6.5}, {'connected_gene': 'FLVCR1-AS1', 'score': 4.77}, {'connected_gene': 'TATDN3', 'score': 4.57}, {'connected_gene': 'PPP2R5A', 'score': 2.55}, {'connected_gene': 'VASH2', 'score': 2.09}, {'connected_gene': 'ENSG00000235862', 'score': 0.39}, {'connected_gene': 'LOC102723761', 'score': 0.31}]
chr1	GH01I212683	212682368	212684000	1.23	[{'connected_gene': 'RPL21P28', 'score': 10.08}, {'connected_gene': 'ATF3', 'score': 9.94}, {'connected_gene': 'RPS6KC1', 'score': 7.5}, {'connected_gene': 'BATF3', 'score': 6.26}, {'connected_gene': 'SPATA45', 'score': 5.34}, {'connected_gene': 'TATDN3', 'score': 4.38}, {'connected_gene': 'GC01P212693', 'score': 0.44}, {'connected_gene': 'LOC102723761', 'score': 0.37}]
chr1	GH01I213324	213324769	213328047	1.9	[{'connected_gene': 'ENSG00000260805', 'score': 10.29}, {'connected_gene': 'RPS6KC1', 'score': 1.93}, {'connected_gene': 'GC01P213400', 'score': 0.19}, {'connected_gene': 'GC01P213252', 'score': 0.19}]
chr1	GH01I213249	213249886	213251073	0.2	[{'connected_gene': 'GC01P213252', 'score': 550.77}, {'connected_gene': 'GC01P213058', 'score': 0.08}, {'connected_gene': 'RPS6KC1', 'score': 0.08}]
chr1	GH01I213136	213136378	213136525	0.38	[{'connected_gene': 'GC01P213058', 'score': 0.18}, {'connected_gene': 'RPS6KC1', 'score': 0.17}, {'connected_gene': 'GC01P213252', 'score': 0.13}]
chr1	GH01I213138	213138088	213139607	0.7	[{'connected_gene': 'GC01P213058', 'score': 0.18}, {'connected_gene': 'RPS6KC1', 'score': 0.17}, {'connected_gene': 'GC01P213252', 'score': 0.14}]
chr1	GH01I213260	213260798	213260927	0.74	[{'connected_gene': 'GC01P213252', 'score': 0.44}, {'connected_gene': 'GC01P213400', 'score': 0.12}, {'connected_gene': 'RPS6KC1', 'score': 0.08}]
chr1	GH01I213070	213070348	213070954	0.98	[{'connected_gene': 'GC01P213058', 'score': 0.39}, {'connected_gene': 'RPS6KC1', 'score': 0.37}, {'connected_gene': 'GC01P213252', 'score': 0.09}]
chr1	GH01I213201	213201362	213202032	0.2	[{'connected_gene': 'GC01P213252', 'score': 0.23}, {'connected_gene': 'GC01P213058', 'score': 0.11}, {'connected_gene': 'RPS6KC1', 'score': 0.1}]
chr1	GH01I213242	213242299	213242689	0.4	[{'connected_gene': 'GC01P213252', 'score': 0.44}, {'connected_gene': 'GC01P213058', 'score': 0.09}, {'connected_gene': 'RPS6KC1', 'score': 0.08}]
chr1	GH01I213224	213224969	213225306	0.4	[{'connected_gene': 'GC01P213252', 'score': 0.31}, {'connected_gene': 'GC01P213058', 'score': 0.1}, {'connected_gene': 'RPS6KC1', 'score': 0.09}]
chr1	GH01I213176	213176313	213176633	0.66	[{'connected_gene': 'GC01P213252', 'score': 0.18}, {'connected_gene': 'RPS6KC1', 'score': 0.13}, {'connected_gene': 'GC01P213058', 'score': 0.13}]
chr1	GH01I213159	213159437	213159720	0.4	[{'connected_gene': 'GC01P213252', 'score': 0.16}, {'connected_gene': 'GC01P213058', 'score': 0.15}, {'connected_gene': 'RPS6KC1', 'score': 0.14}]
chr1	GH01I212664	212664839	212669048	2.01	[{'connected_gene': 'ENSG00000237980', 'score': 550.77}, {'connected_gene': 'LOC102723761', 'score': 550.77}, {'connected_gene': 'FAM71A', 'score': 11.15}, {'connected_gene': 'DTL', 'score': 9.89}, {'connected_gene': 'SPATA45', 'score': 8.99}, {'connected_gene': 'PPP2R5A', 'score': 6.03}, {'connected_gene': 'ATF3', 'score': 6.0}, {'connected_gene': 'BATF3', 'score': 5.17}, {'connected_gene': 'ANGEL2', 'score': 4.61}, {'connected_gene': 'RPS6KC1', 'score': 2.72}, {'connected_gene': 'GC01P212693', 'score': 0.31}]