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
ENST00000258646	[[50106081, 50108398], [50115011, 50115142], [50115811, 50115963], [50118872, 50118999], [50123593, 50123784], [50125461, 50125604], [50126313, 50126421], [50129650, 50129809], [50134053, 50134220], [50140753, 50140904], [50141289, 50141459]]	[[50108257, 50108398], [50115011, 50115142], [50115811, 50115963], [50118872, 50118999], [50123593, 50123784], [50125461, 50125604], [50126313, 50126421], [50129650, 50129809], [50134053, 50134220], [50140753, 50140904], [50141289, 50141415]]
ENST00000378302	[[50106089, 50108398], [50115011, 50115142], [50115811, 50115963], [50118872, 50118999], [50123593, 50123784], [50125461, 50125604], [50126313, 50126421], [50129650, 50129809], [50134053, 50134220], [50140753, 50140904], [50141289, 50141456], [50154640, 50154720], [50159579, 50159719]]	[[50108257, 50108398], [50115011, 50115142], [50115811, 50115963], [50118872, 50118999], [50123593, 50123784], [50125461, 50125604], [50126313, 50126421], [50129650, 50129809], [50134053, 50134220], [50140753, 50140904], [50141289, 50141415]]
ENST00000471984	[[50108053, 50108398], [50112005, 50112219], [50113510, 50113639]]	None
ENST00000546015	[[50120637, 50121307], [50123593, 50123784], [50125461, 50125604], [50126313, 50126421], [50129650, 50129809], [50134053, 50134220], [50140753, 50140904], [50141289, 50141456], [50154640, 50154720], [50159579, 50159714]]	[[50121284, 50121307], [50123593, 50123784], [50125461, 50125604], [50126313, 50126421], [50129650, 50129809], [50134053, 50134220], [50140753, 50140904], [50141289, 50141415]]
ENST00000490058	[[50125306, 50125604], [50126313, 50126388]]	None
NM_018191	[[50106081, 50108398], [50115011, 50115142], [50115811, 50115963], [50118872, 50118999], [50123593, 50123784], [50125461, 50125604], [50126313, 50126421], [50129650, 50129809], [50134053, 50134220], [50140753, 50140904], [50141289, 50141456], [50154640, 50154720], [50159579, 50159719]]	[[50108257, 50108398], [50115011, 50115142], [50115811, 50115963], [50118872, 50118999], [50123593, 50123784], [50125461, 50125604], [50126313, 50126421], [50129650, 50129809], [50134053, 50134220], [50140753, 50140904], [50141289, 50141415]]

Promoter

Chrom	Start	End	Description
chr13	50159631	50159668	CAGE_peak_2_at_RCBTB1_5end
chr13	50159675	50159713	CAGE_peak_1_at_RCBTB1_5end
chr13	50159732	50159743	CAGE_peak_4_at_RCBTB1_5end
chr13	50160123	50160156	CAGE_peak_5_at_RCBTB1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I049689	49689666	49694057	1.99	[{'connected_gene': 'EBPL', 'score': 581.38}, {'connected_gene': 'SETDB2', 'score': 15.5}, {'connected_gene': 'TRIM13', 'score': 12.89}, {'connected_gene': 'KCNRG', 'score': 11.54}, {'connected_gene': 'RCBTB1', 'score': 4.68}, {'connected_gene': 'GC13P049698', 'score': 0.44}]
chr13	GH13I049809	49809847	49813554	1.02	[{'connected_gene': 'EBPL', 'score': 37.18}, {'connected_gene': 'RCBTB1', 'score': 4.36}, {'connected_gene': 'KPNA3', 'score': 0.37}, {'connected_gene': 'RNY4P30', 'score': 0.18}]
chr13	GH13I049710	49710808	49712222	0.59	[{'connected_gene': 'EBPL', 'score': 22.0}, {'connected_gene': 'KPNA3', 'score': 10.85}, {'connected_gene': 'RCBTB1', 'score': 4.36}, {'connected_gene': 'SETDB2', 'score': 4.25}, {'connected_gene': 'GC13P049698', 'score': 0.39}, {'connected_gene': 'ENSG00000276436', 'score': 0.18}]
chr13	GH13I049820	49820332	49821617	0.75	[{'connected_gene': 'EBPL', 'score': 32.78}, {'connected_gene': 'KPNA3', 'score': 11.91}, {'connected_gene': 'RCBTB1', 'score': 5.09}, {'connected_gene': 'TRIM13', 'score': 4.68}, {'connected_gene': 'RNY4P30', 'score': 0.2}]
chr13	GH13I049814	49814152	49815767	0.56	[{'connected_gene': 'EBPL', 'score': 16.09}, {'connected_gene': 'KPNA3', 'score': 11.88}, {'connected_gene': 'RCBTB1', 'score': 4.36}, {'connected_gene': 'RNY4P30', 'score': 0.19}]
chr13	GH13I049649	49649308	49653468	0.83	[{'connected_gene': 'EBPL', 'score': 28.28}, {'connected_gene': 'ARL11', 'score': 13.05}, {'connected_gene': 'KPNA3', 'score': 10.96}, {'connected_gene': 'PHF11', 'score': 10.55}, {'connected_gene': 'RCBTB1', 'score': 5.97}, {'connected_gene': 'GC13M049652', 'score': 0.77}, {'connected_gene': 'LOC105370205', 'score': 0.39}]
chr13	GH13I049453	49453294	49455321	0.92	[{'connected_gene': 'SETDB2', 'score': 14.8}, {'connected_gene': 'PHF11', 'score': 11.45}, {'connected_gene': 'KPNA3', 'score': 9.36}, {'connected_gene': 'RCBTB1', 'score': 4.85}, {'connected_gene': 'CAB39L', 'score': 0.39}, {'connected_gene': 'SNRPGP14', 'score': 0.29}, {'connected_gene': 'GC13P049390', 'score': 0.21}]
chr13	GH13I049634	49634991	49636670	0.91	[{'connected_gene': 'RCBTB1', 'score': 13.42}, {'connected_gene': 'EBPL', 'score': 4.56}, {'connected_gene': 'CAB39L', 'score': 4.2}, {'connected_gene': 'ARL11', 'score': 1.64}, {'connected_gene': 'SETDB2', 'score': 1.23}, {'connected_gene': 'LOC105370205', 'score': 0.77}]
chr13	GH13I049584	49584400	49588249	1.99	[{'connected_gene': 'RCBTB1', 'score': 575.05}, {'connected_gene': 'SETDB2', 'score': 12.92}, {'connected_gene': 'GC13P049617', 'score': 0.29}]
chr13	GH13I049624	49624858	49626854	1	[{'connected_gene': 'RCBTB1', 'score': 12.33}, {'connected_gene': 'PHF11', 'score': 8.56}, {'connected_gene': 'ARL11', 'score': 0.77}, {'connected_gene': 'LOC105370204', 'score': 0.44}]
chr13	GH13I049569	49569605	49570958	0.69	[{'connected_gene': 'RCBTB1', 'score': 17.3}, {'connected_gene': 'PHF11', 'score': 11.7}, {'connected_gene': 'GC13P049390', 'score': 0.1}]
chr13	GH13I049539	49539245	49541347	1.15	[{'connected_gene': 'RCBTB1', 'score': 12.13}, {'connected_gene': 'PHF11', 'score': 10.05}, {'connected_gene': 'GC13P049390', 'score': 0.11}]
chr13	GH13I049559	49559795	49561459	0.74	[{'connected_gene': 'RCBTB1', 'score': 13.98}, {'connected_gene': 'PHF11', 'score': 10.82}, {'connected_gene': 'GC13P049390', 'score': 0.09}]
chr13	GH13I049606	49606801	49607814	0.96	[{'connected_gene': 'RCBTB1', 'score': 24.41}, {'connected_gene': 'ARL11', 'score': 13.34}, {'connected_gene': 'PHF11', 'score': 11.67}, {'connected_gene': 'EBPL', 'score': 10.42}, {'connected_gene': 'GC13P049617', 'score': 0.39}]
chr13	GH13I049551	49551001	49551800	0.2	[{'connected_gene': 'RCBTB1', 'score': 14.15}, {'connected_gene': 'ARL11', 'score': 8.51}, {'connected_gene': 'PHF11', 'score': 0.22}, {'connected_gene': 'GC13P049390', 'score': 0.1}]
chr13	GH13I049494	49494389	49500998	2.39	[{'connected_gene': 'PHF11', 'score': 564.24}, {'connected_gene': 'SETDB2', 'score': 27.92}, {'connected_gene': 'TRIM13', 'score': 12.87}, {'connected_gene': 'KCNRG', 'score': 11.51}, {'connected_gene': 'EBPL', 'score': 10.61}, {'connected_gene': 'ARL11', 'score': 5.5}, {'connected_gene': 'RCBTB1', 'score': 0.17}, {'connected_gene': 'GC13P049390', 'score': 0.14}]
chr13	GH13I049520	49520055	49520336	0.42	[{'connected_gene': 'PHF11', 'score': 26.48}, {'connected_gene': 'CAB39L', 'score': 2.3}, {'connected_gene': 'SETDB2', 'score': 1.32}, {'connected_gene': 'RCBTB1', 'score': 0.2}, {'connected_gene': 'GC13P049390', 'score': 0.13}]
chr13	GH13I049418	49418755	49419601	0.58	[{'connected_gene': 'PHF11', 'score': 6.1}, {'connected_gene': 'RCBTB1', 'score': 4.4}, {'connected_gene': 'GC13P049413', 'score': 0.44}, {'connected_gene': 'SETDB2', 'score': 0.34}, {'connected_gene': 'CAB39L', 'score': 0.34}, {'connected_gene': 'GC13P049390', 'score': 0.31}]
chr13	GH13I049640	49640976	49644200	1.31	[{'connected_gene': 'PHF11', 'score': 20.79}, {'connected_gene': 'RCBTB1', 'score': 13.03}, {'connected_gene': 'ARL11', 'score': 12.88}, {'connected_gene': 'EBPL', 'score': 11.77}, {'connected_gene': 'KPNA3', 'score': 10.65}, {'connected_gene': 'SETDB2', 'score': 10.26}, {'connected_gene': 'CAB39L', 'score': 4.77}, {'connected_gene': 'LOC105370205', 'score': 0.77}, {'connected_gene': 'GC13M049652', 'score': 0.39}]
chr13	GH13I049511	49511990	49513265	0.49	[{'connected_gene': 'PHF11', 'score': 18.62}, {'connected_gene': 'RCBTB1', 'score': 11.68}, {'connected_gene': 'GC13P049390', 'score': 0.13}]
chr13	GH13I049514	49514545	49516403	0.2	[{'connected_gene': 'PHF11', 'score': 14.84}, {'connected_gene': 'RCBTB1', 'score': 11.68}, {'connected_gene': 'GC13P049390', 'score': 0.13}]
chr13	GH13I049533	49533688	49534502	0.4	[{'connected_gene': 'PHF11', 'score': 19.88}, {'connected_gene': 'RCBTB1', 'score': 6.7}, {'connected_gene': 'GC13P049390', 'score': 0.11}]
chr13	GH13I049529	49529919	49531628	0.86	[{'connected_gene': 'PHF11', 'score': 19.94}, {'connected_gene': 'RCBTB1', 'score': 7.47}, {'connected_gene': 'GC13P049390', 'score': 0.11}]
chr13	GH13I050023	50023340	50023674	0.31	[{'connected_gene': 'MIR16-1', 'score': 12.01}, {'connected_gene': 'TRIM13', 'score': 1.65}, {'connected_gene': 'RCBTB1', 'score': 1.24}, {'connected_gene': 'KCNRG', 'score': 0.44}, {'connected_gene': 'GC13M050020', 'score': 0.39}, {'connected_gene': 'DLEU2', 'score': 0.15}]
chr13	GH13I049627	49627772	49630549	1.8	[{'connected_gene': 'ARL11', 'score': 563.09}, {'connected_gene': 'RCBTB1', 'score': 10.22}, {'connected_gene': 'PHF11', 'score': 7.91}, {'connected_gene': 'CAB39L', 'score': 4.47}, {'connected_gene': 'LOC105370205', 'score': 0.39}]
chr13	GH13I049615	49615388	49617200	0.4	[{'connected_gene': 'GC13P049617', 'score': 550.77}, {'connected_gene': 'RCBTB1', 'score': 19.17}, {'connected_gene': 'EBPL', 'score': 10.73}, {'connected_gene': 'KPNA3', 'score': 10.18}, {'connected_gene': 'LOC105370204', 'score': 0.77}]
chr13	GH13I049619	49619011	49620718	0.74	[{'connected_gene': 'GC13P049618', 'score': 550.77}, {'connected_gene': 'ENSG00000176882', 'score': 550.77}, {'connected_gene': 'LOC105370204', 'score': 550.77}, {'connected_gene': 'RCBTB1', 'score': 25.16}, {'connected_gene': 'ARL11', 'score': 15.53}, {'connected_gene': 'EBPL', 'score': 10.74}, {'connected_gene': 'KPNA3', 'score': 10.18}]