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
ENST00000378565	[[48807293, 48807613], [48827943, 48828072], [48830312, 48830519], [48832261, 48832372], [48832932, 48833083], [48835274, 48836460]]	[[48807496, 48807613], [48827943, 48828072], [48830312, 48830519], [48832261, 48832372], [48832932, 48833083], [48835274, 48835360]]
ENST00000378549	[[48807338, 48807613], [48827943, 48828072], [48832932, 48833083], [48835274, 48835524]]	[[48807496, 48807613], [48827943, 48828072], [48832932, 48833083], [48835274, 48835360]]
ENST00000607866	[[48828010, 48828072], [48829035, 48829106], [48830312, 48830519], [48832261, 48832372], [48832932, 48833077]]	[[48828010, 48828072], [48829035, 48829106], [48830312, 48830340]]
ENST00000463839	[[48835272, 48835457], [48836706, 48837063]]	[[48835272, 48835360]]
NM_021999	[[48807273, 48807613], [48827943, 48828072], [48830312, 48830519], [48832261, 48832372], [48832932, 48833083], [48835274, 48836232]]	[[48807496, 48807613], [48827943, 48828072], [48830312, 48830519], [48832261, 48832372], [48832932, 48833083], [48835274, 48835360]]

Promoter

Chrom	Start	End	Description
chr13	48806773	48806784	CAGE_peak_14_at_ITM2B_5end
chr13	48806893	48806897	CAGE_peak_10_at_ITM2B_5end
chr13	48807288	48807302	CAGE_peak_3_at_ITM2B_5end
chr13	48807307	48807333	CAGE_peak_2_at_ITM2B_5end
chr13	48807334	48807354	CAGE_peak_1_at_ITM2B_5end
chr13	48807357	48807368	CAGE_peak_4_at_ITM2B_5end
chr13	48835377	48835496	CAGE_peak_5_at_ITM2B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I048257	48257492	48260139	0.7	[{'connected_gene': 'ITM2B', 'score': 11.96}, {'connected_gene': 'RB1', 'score': 6.39}, {'connected_gene': 'LPAR6', 'score': 6.23}, {'connected_gene': 'LINC00441', 'score': 0.26}]
chr13	GH13I048188	48188752	48190311	0.38	[{'connected_gene': 'ITM2B', 'score': 12.59}, {'connected_gene': 'MED4', 'score': 10.73}, {'connected_gene': 'LOC105370198', 'score': 0.34}]
chr13	GH13I048209	48209637	48210905	0.57	[{'connected_gene': 'ITM2B', 'score': 13.48}, {'connected_gene': 'MED4', 'score': 10.68}, {'connected_gene': 'LOC105370198', 'score': 0.26}]
chr13	GH13I048174	48174201	48174800	0.4	[{'connected_gene': 'ITM2B', 'score': 11.99}, {'connected_gene': 'MED4', 'score': 10.8}, {'connected_gene': 'LOC105370198', 'score': 0.44}]
chr13	GH13I048230	48230620	48238366	2.19	[{'connected_gene': 'ITM2B', 'score': 550.77}, {'connected_gene': 'MED4', 'score': 11.18}, {'connected_gene': 'LPAR6', 'score': 6.39}, {'connected_gene': 'RB1', 'score': 5.5}, {'connected_gene': 'LINC00441', 'score': 0.2}]
chr13	GH13I048255	48255416	48257386	0.67	[{'connected_gene': 'ITM2B', 'score': 11.97}, {'connected_gene': 'MED4', 'score': 11.41}, {'connected_gene': 'LPAR6', 'score': 6.17}, {'connected_gene': 'RB1', 'score': 5.62}, {'connected_gene': 'LINC00441', 'score': 0.25}]
chr13	GH13I048254	48254025	48254174	1	[{'connected_gene': 'ITM2B', 'score': 11.97}, {'connected_gene': 'MED4', 'score': 11.42}, {'connected_gene': 'LINC00441', 'score': 0.25}]
chr13	GH13I048287	48287005	48287154	0.72	[{'connected_gene': 'ITM2B', 'score': 11.17}, {'connected_gene': 'MED4', 'score': 10.74}, {'connected_gene': 'LINC00441', 'score': 0.37}]
chr13	GH13I048154	48154550	48163200	1.53	[{'connected_gene': 'ITM2B', 'score': 39.7}, {'connected_gene': 'RCBTB2', 'score': 7.03}, {'connected_gene': 'RB1', 'score': 2.83}, {'connected_gene': 'LPAR6', 'score': 2.66}, {'connected_gene': 'MED4', 'score': 1.77}, {'connected_gene': 'LOC105370198', 'score': 0.44}, {'connected_gene': 'POLR2KP2', 'score': 0.34}]
chr13	GH13I048220	48220010	48223473	1.07	[{'connected_gene': 'ITM2B', 'score': 0.39}, {'connected_gene': 'LOC105370198', 'score': 0.22}]
chr13	GH13I048199	48199748	48200374	0.2	[{'connected_gene': 'ITM2B', 'score': 12.82}, {'connected_gene': 'LOC105370198', 'score': 0.29}]
chr13	GH13I048214	48214840	48215045	0.2	[{'connected_gene': 'ITM2B', 'score': 0.37}, {'connected_gene': 'LOC105370198', 'score': 0.25}]
chr13	GH13I048193	48193693	48195114	1.03	[{'connected_gene': 'ITM2B', 'score': 13.02}, {'connected_gene': 'LOC105370198', 'score': 0.31}]
chr13	GH13I048229	48229305	48229454	0.69	[{'connected_gene': 'ITM2B', 'score': 0.77}, {'connected_gene': 'LOC105370198', 'score': 0.21}]
chr13	GH13I048181	48181169	48182241	0.31	[{'connected_gene': 'ITM2B', 'score': 11.94}, {'connected_gene': 'LOC105370198', 'score': 0.37}]
chr13	GH13I048219	48219805	48219954	0.4	[{'connected_gene': 'ITM2B', 'score': 0.39}, {'connected_gene': 'LOC105370198', 'score': 0.23}]
chr13	GH13I048200	48200510	48201736	0.82	[{'connected_gene': 'ITM2B', 'score': 12.82}, {'connected_gene': 'LOC105370198', 'score': 0.29}]
chr13	GH13I048143	48143880	48145409	1.2	[{'connected_gene': 'ITM2B', 'score': 25.29}, {'connected_gene': 'MED4-AS1', 'score': 10.37}, {'connected_gene': 'SUCLA2', 'score': 9.85}, {'connected_gene': 'RCBTB2', 'score': 4.28}, {'connected_gene': 'RB1', 'score': 1.73}, {'connected_gene': 'MED4', 'score': 1.35}, {'connected_gene': 'POLR2KP2', 'score': 0.39}, {'connected_gene': 'LOC105370198', 'score': 0.34}]
chr13	GH13I048142	48142704	48142772	0.8	[{'connected_gene': 'ITM2B', 'score': 12.15}, {'connected_gene': 'MED4-AS1', 'score': 11.27}, {'connected_gene': 'LPAR6', 'score': 1.88}, {'connected_gene': 'RCBTB2', 'score': 1.7}, {'connected_gene': 'POLR2KP2', 'score': 0.44}, {'connected_gene': 'LOC105370198', 'score': 0.34}]
chr13	GH13I048248	48248257	48249648	0.31	[{'connected_gene': 'ITM2B', 'score': 0.37}, {'connected_gene': 'LINC00441', 'score': 0.23}]
chr13	GH13I048299	48299417	48300298	0.31	[{'connected_gene': 'RB1', 'score': 6.41}, {'connected_gene': 'RCBTB2', 'score': 5.81}, {'connected_gene': 'LINC00441', 'score': 0.77}, {'connected_gene': 'ITM2B', 'score': 0.2}]
chr13	GH13I048264	48264431	48266524	0.63	[{'connected_gene': 'RB1', 'score': 18.67}, {'connected_gene': 'LINC00441', 'score': 13.85}, {'connected_gene': 'ITM2B', 'score': 11.54}, {'connected_gene': 'MED4', 'score': 11.42}, {'connected_gene': 'LINC00462', 'score': 5.06}]
chr13	GH13I048294	48294160	48295015	0.2	[{'connected_gene': 'RB1', 'score': 6.56}, {'connected_gene': 'LINC00441', 'score': 0.44}, {'connected_gene': 'ITM2B', 'score': 0.21}]
chr13	GH13I048096	48096148	48097203	0.77	[{'connected_gene': 'MED4', 'score': 550.77}, {'connected_gene': 'ITM2B', 'score': 11.04}, {'connected_gene': 'SUCLA2', 'score': 9.98}, {'connected_gene': 'MED4-AS1', 'score': 6.58}, {'connected_gene': 'POLR2KP2', 'score': 0.28}]
chr13	GH13I048123	48123852	48127934	1.06	[{'connected_gene': 'MED4', 'score': 23.55}, {'connected_gene': 'ITM2B', 'score': 13.04}, {'connected_gene': 'MED4-AS1', 'score': 13.02}, {'connected_gene': 'SUCLA2', 'score': 9.86}, {'connected_gene': 'POLR2KP2', 'score': 0.44}, {'connected_gene': 'LOC105370198', 'score': 0.26}]
chr13	GH13I048250	48250713	48252755	0.6	[{'connected_gene': 'MED4', 'score': 10.75}, {'connected_gene': 'RB1', 'score': 5.61}, {'connected_gene': 'SUCLA2-AS1', 'score': 4.61}, {'connected_gene': 'ITM2B', 'score': 0.37}, {'connected_gene': 'LINC00441', 'score': 0.23}]
chr13	GH13I048243	48243818	48245090	0.2	[{'connected_gene': 'MED4', 'score': 10.9}, {'connected_gene': 'RB1', 'score': 6.35}, {'connected_gene': 'LINC00441', 'score': 5.07}, {'connected_gene': 'ITM2B', 'score': 0.39}]
chr13	GH13I048093	48093684	48095754	2.06	[{'connected_gene': 'MED4', 'score': 574.85}, {'connected_gene': 'PPP1R26P1', 'score': 37.69}, {'connected_gene': 'MED4-AS1', 'score': 13.29}, {'connected_gene': 'ITM2B', 'score': 4.07}]
chr13	GH13I048245	48245587	48246717	0.2	[{'connected_gene': 'MED4', 'score': 10.89}, {'connected_gene': 'LINC00462', 'score': 4.37}, {'connected_gene': 'ITM2B', 'score': 0.39}, {'connected_gene': 'LINC00441', 'score': 0.22}]
chr13	GH13I048241	48241314	48243321	0.59	[{'connected_gene': 'MED4', 'score': 10.9}, {'connected_gene': 'LINC00462', 'score': 9.8}, {'connected_gene': 'RB1', 'score': 5.03}, {'connected_gene': 'LPAR6', 'score': 4.46}, {'connected_gene': 'ITM2B', 'score': 0.44}, {'connected_gene': 'LINC00441', 'score': 0.21}]
chr13	GH13I048729	48729849	48732444	1.06	[{'connected_gene': 'FNDC3A', 'score': 14.65}, {'connected_gene': 'CYSLTR2', 'score': 11.85}, {'connected_gene': 'RCBTB2', 'score': 2.25}, {'connected_gene': 'RB1', 'score': 2.2}, {'connected_gene': 'LPAR6', 'score': 1.38}, {'connected_gene': 'ITM2B', 'score': 1.12}, {'connected_gene': 'GC13P048764', 'score': 0.29}]
chr13	GH13I048561	48561083	48563429	1.43	[{'connected_gene': 'RCBTB2', 'score': 7.26}, {'connected_gene': 'LPAR6', 'score': 6.19}, {'connected_gene': 'RB1', 'score': 5.94}, {'connected_gene': 'FNDC3A', 'score': 4.21}, {'connected_gene': 'ITM2B', 'score': 2.27}, {'connected_gene': 'CYSLTR2', 'score': 2.23}, {'connected_gene': 'LOC105370201', 'score': 0.44}, {'connected_gene': 'GC13P048533', 'score': 0.31}]
chr13	GH13I048297	48297505	48297654	0.4	[{'connected_gene': 'LINC00441', 'score': 0.44}, {'connected_gene': 'ITM2B', 'score': 0.21}]
chr13	GH13I048301	48301333	48301982	0.31	[{'connected_gene': 'LINC00441', 'score': 0.77}, {'connected_gene': 'ITM2B', 'score': 0.2}]
chr13	GH13I048295	48295145	48296165	0.31	[{'connected_gene': 'LINC00441', 'score': 0.44}, {'connected_gene': 'ITM2B', 'score': 0.21}]
chr13	GH13I048184	48184131	48188330	1.2	[{'connected_gene': 'PPP1R26P1', 'score': 28.9}, {'connected_gene': 'MED4', 'score': 20.43}, {'connected_gene': 'ITM2B', 'score': 12.92}, {'connected_gene': 'LOC105370198', 'score': 0.37}]
chr13	GH13I048577	48577202	48580118	1.54	[{'connected_gene': 'LINC00462', 'score': 10.34}, {'connected_gene': 'RB1', 'score': 9.68}, {'connected_gene': 'RCBTB2', 'score': 8.65}, {'connected_gene': 'LPAR6', 'score': 6.86}, {'connected_gene': 'FNDC3A', 'score': 6.42}, {'connected_gene': 'ITM2B', 'score': 1.15}, {'connected_gene': 'LINC01077', 'score': 0.44}, {'connected_gene': 'GC13P048533', 'score': 0.26}]