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
ENST00000495013	[[48627458, 48627627], [48651288, 48651447], [48653979, 48654111]]	None
ENST00000258648	[[48650091, 48651447], [48653979, 48654111], [48655780, 48655867], [48657506, 48657564], [48660417, 48660588], [48664487, 48664554], [48669089, 48669240]]	[[48651274, 48651447], [48653979, 48654111], [48655780, 48655867], [48657506, 48657564], [48660417, 48660588], [48664487, 48664554], [48669089, 48669214]]
ENST00000378586	[[48651103, 48651447], [48653979, 48654111], [48655780, 48655867], [48657506, 48657564], [48660417, 48660588], [48664487, 48664554], [48669195, 48669267]]	[[48651274, 48651447], [48653979, 48654111], [48655780, 48655867], [48657506, 48657564], [48660417, 48660588], [48664487, 48664541]]
ENST00000417167	[[48651306, 48651447], [48653979, 48654111], [48655780, 48655867], [48657506, 48657564], [48660417, 48660588], [48664487, 48664554], [48667683, 48667823], [48669089, 48669204]]	[[48651306, 48651447], [48653979, 48654111], [48655780, 48655867], [48657506, 48657564], [48660417, 48660588], [48664487, 48664554], [48667683, 48667742]]
NM_014166	[[48649863, 48651447], [48653979, 48654111], [48655780, 48655867], [48657506, 48657564], [48660417, 48660588], [48664487, 48664554], [48669089, 48669277]]	[[48651274, 48651447], [48653979, 48654111], [48655780, 48655867], [48657506, 48657564], [48660417, 48660588], [48664487, 48664554], [48669089, 48669214]]
NM_001270629	[[48649863, 48651447], [48653979, 48654111], [48655780, 48655867], [48657506, 48657564], [48660417, 48660588], [48664487, 48664554], [48669195, 48669277]]	[[48651274, 48651447], [48653979, 48654111], [48655780, 48655867], [48657506, 48657564], [48660417, 48660588], [48664487, 48664541]]

Promoter

Chrom	Start	End	Description
chr13	48669212	48669231	CAGE_peak_2_at_MED4_5end
chr13	48669232	48669264	CAGE_peak_1_at_MED4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
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	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	GH13I047951	47951986	47952000	0.24	[{'connected_gene': 'SUCLA2', 'score': 3.14}, {'connected_gene': 'MED4', 'score': 1.57}, {'connected_gene': 'LINC00562', 'score': 0.37}]
chr13	GH13I047999	47999971	48003128	1.98	[{'connected_gene': 'SUCLA2', 'score': 570.91}, {'connected_gene': 'SUCLA2-AS1', 'score': 560.02}, {'connected_gene': 'MED4', 'score': 12.4}, {'connected_gene': 'MED4-AS1', 'score': 11.18}, {'connected_gene': 'GC13P048033', 'score': 0.29}, {'connected_gene': 'GC13P048032', 'score': 0.29}, {'connected_gene': 'PIR59035', 'score': 0.29}]
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	GH13I048036	48036242	48040718	2.09	[{'connected_gene': 'NUDT15', 'score': 556.3}, {'connected_gene': 'PPP1R26P1', 'score': 26.36}, {'connected_gene': 'MED4', 'score': 23.53}, {'connected_gene': 'SUCLA2', 'score': 10.19}, {'connected_gene': 'SUCLA2-AS1', 'score': 10.06}, {'connected_gene': 'ENSG00000276968', 'score': 0.77}]
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	GH13I047774	47774000	47774201	0.89	[{'connected_gene': 'MED4', 'score': 14.42}, {'connected_gene': 'HTR2A', 'score': 10.65}, {'connected_gene': 'LINC00562', 'score': 10.14}, {'connected_gene': 'RPL27AP8', 'score': 0.44}, {'connected_gene': 'ENSG00000228573', 'score': 0.21}]
chr13	GH13I048488	48488385	48495211	1.57	[{'connected_gene': 'MED4', 'score': 11.98}, {'connected_gene': 'LPAR6', 'score': 5.59}, {'connected_gene': 'RB1', 'score': 4.99}, {'connected_gene': 'GC13P048483', 'score': 0.44}, {'connected_gene': 'RCBTB2', 'score': 0.26}, {'connected_gene': 'ENSG00000274929', 'score': 0.26}]
chr13	GH13I048066	48066097	48067379	0.46	[{'connected_gene': 'MED4', 'score': 24.22}, {'connected_gene': 'MED4-AS1', 'score': 8.16}, {'connected_gene': 'ENSG00000276968', 'score': 0.34}]
chr13	GH13I048726	48726060	48729208	0.83	[{'connected_gene': 'MED4', 'score': 13.36}, {'connected_gene': 'PPP1R26P1', 'score': 13.1}, {'connected_gene': 'CYSLTR2', 'score': 11.86}, {'connected_gene': 'SETDB2', 'score': 11.56}, {'connected_gene': 'FNDC3A', 'score': 9.87}, {'connected_gene': 'GC13P048764', 'score': 0.28}]
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	GH13I048109	48109820	48111396	0.79	[{'connected_gene': 'MED4-AS1', 'score': 24.66}, {'connected_gene': 'MED4', 'score': 15.33}, {'connected_gene': 'POLR2KP2', 'score': 0.34}, {'connected_gene': 'LOC105370198', 'score': 0.22}]
chr13	GH13I048078	48078265	48078414	0.68	[{'connected_gene': 'MED4-AS1', 'score': 550.77}, {'connected_gene': 'MED4', 'score': 0.37}]
chr13	GH13I047933	47933157	47934971	0.86	[{'connected_gene': 'LINC00562', 'score': 550.77}, {'connected_gene': 'MED4', 'score': 12.42}, {'connected_gene': 'SUCLA2', 'score': 0.2}]
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	GH13I048043	48043601	48044001	0.43	[{'connected_gene': 'ENSG00000276968', 'score': 550.77}, {'connected_gene': 'SUCLA2', 'score': 20.4}, {'connected_gene': 'MED4-AS1', 'score': 12.03}, {'connected_gene': 'MED4', 'score': 11.97}, {'connected_gene': 'NUDT15', 'score': 0.44}]