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
ENST00000373840	[[123940414, 123943851], [123945207, 123945238], [123945588, 123945676], [123949230, 123949297], [123952831, 123953009], [123954448, 123954502], [123955638, 123955697], [123963916, 123964147]]	[[123943673, 123943851], [123945207, 123945238], [123945588, 123945676], [123949230, 123949297], [123952831, 123953009], [123954448, 123954502], [123955638, 123955690]]
ENST00000451303	[[123943776, 123943851], [123945207, 123945238], [123945588, 123945676], [123949230, 123949297], [123952831, 123953009], [123954448, 123954502], [123955638, 123955697], [123984477, 123984531], [123985187, 123985292]]	[[123943776, 123943851], [123945207, 123945238], [123945588, 123945676], [123949230, 123949297], [123952831, 123953009], [123954448, 123954502], [123955638, 123955690]]
NM_016322	[[123940414, 123943851], [123945207, 123945238], [123945588, 123945676], [123949230, 123949297], [123952831, 123953009], [123954448, 123954502], [123955638, 123955697], [123963916, 123964365]]	[[123943673, 123943851], [123945207, 123945238], [123945588, 123945676], [123949230, 123949297], [123952831, 123953009], [123954448, 123954502], [123955638, 123955690]]

Promoter

Chrom	Start	End	Description
chr9	123943426	123943439	CAGE_peak_3_at_RAB14_5end
chr9	123955635	123955639	CAGE_peak_8_at_RAB14_5end
chr9	123964088	123964109	CAGE_peak_2_at_RAB14_5end
chr9	123964114	123964210	CAGE_peak_1_at_RAB14_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I121182	121182951	121186370	0.95	[{'connected_gene': 'C5', 'score': 18.77}, {'connected_gene': 'GSN', 'score': 12.5}, {'connected_gene': 'CUTALP', 'score': 11.12}, {'connected_gene': 'STOM', 'score': 10.37}, {'connected_gene': 'LOC102723324', 'score': 10.37}, {'connected_gene': 'GGTA1P', 'score': 7.98}, {'connected_gene': 'PIR40575', 'score': 0.77}, {'connected_gene': 'RAB14', 'score': 0.28}]
chr9	GH09I121176	121176298	121179592	1	[{'connected_gene': 'C5', 'score': 18.37}, {'connected_gene': 'CUTALP', 'score': 16.01}, {'connected_gene': 'GSN', 'score': 11.74}, {'connected_gene': 'LOC102723324', 'score': 10.33}, {'connected_gene': 'STOM', 'score': 9.87}, {'connected_gene': 'DAB2IP', 'score': 5.46}, {'connected_gene': 'PIR40575', 'score': 0.44}, {'connected_gene': 'RAB14', 'score': 0.25}, {'connected_gene': 'CNTRL', 'score': 0.15}]
chr9	GH09I121260	121260603	121262758	0.89	[{'connected_gene': 'GSN-AS1', 'score': 13.58}, {'connected_gene': 'ENSG00000239593', 'score': 13.58}, {'connected_gene': 'GSN', 'score': 13.47}, {'connected_gene': 'RAB14', 'score': 12.72}, {'connected_gene': 'LOC102723324', 'score': 11.0}, {'connected_gene': 'STOM', 'score': 10.75}, {'connected_gene': 'C5', 'score': 10.63}, {'connected_gene': 'LOC645482', 'score': 0.34}]
chr9	GH09I121257	121257409	121258753	0.97	[{'connected_gene': 'RAB14', 'score': 12.72}, {'connected_gene': 'ENSG00000239593', 'score': 12.59}, {'connected_gene': 'GSN-AS1', 'score': 12.56}, {'connected_gene': 'GSN', 'score': 12.48}, {'connected_gene': 'LOC102723324', 'score': 10.99}, {'connected_gene': 'STOM', 'score': 10.69}, {'connected_gene': 'C5', 'score': 10.63}, {'connected_gene': 'LOC645482', 'score': 0.37}]
chr9	GH09I121253	121253401	121254600	1	[{'connected_gene': 'RAB14', 'score': 12.74}, {'connected_gene': 'ENSG00000239593', 'score': 12.56}, {'connected_gene': 'GSN-AS1', 'score': 12.55}, {'connected_gene': 'GSN', 'score': 12.5}, {'connected_gene': 'LOC102723324', 'score': 10.99}, {'connected_gene': 'STOM', 'score': 10.68}, {'connected_gene': 'C5', 'score': 10.65}, {'connected_gene': 'GGTA1P', 'score': 5.91}, {'connected_gene': 'LOC645482', 'score': 0.39}]
chr9	GH09I121246	121246489	121248066	0.97	[{'connected_gene': 'RAB14', 'score': 13.46}, {'connected_gene': 'GSN', 'score': 12.61}, {'connected_gene': 'GSN-AS1', 'score': 12.24}, {'connected_gene': 'ENSG00000239593', 'score': 12.24}, {'connected_gene': 'C5', 'score': 10.74}, {'connected_gene': 'LOC645482', 'score': 0.44}]
chr9	GH09I121223	121222563	121222712	0.73	[{'connected_gene': 'RAB14', 'score': 550.77}, {'connected_gene': 'GSN', 'score': 0.39}]
chr9	GH09I121222	121222801	121223000	0.72	[{'connected_gene': 'RAB14', 'score': 550.77}, {'connected_gene': 'GSN', 'score': 0.37}]
chr9	GH09I121192	121192502	121202800	2.45	[{'connected_gene': 'RAB14', 'score': 550.31}, {'connected_gene': 'CUTALP', 'score': 24.55}, {'connected_gene': 'C5', 'score': 18.57}, {'connected_gene': 'CNTRL', 'score': 13.19}, {'connected_gene': 'GSN-AS1', 'score': 11.43}, {'connected_gene': 'ENSG00000239593', 'score': 11.43}, {'connected_gene': 'FBXW2', 'score': 11.22}, {'connected_gene': 'LOC102723324', 'score': 11.05}, {'connected_gene': 'STOM', 'score': 10.57}, {'connected_gene': 'GGTA1P', 'score': 7.2}, {'connected_gene': 'TRAF1', 'score': 6.35}, {'connected_gene': 'DAB2IP', 'score': 5.42}, {'connected_gene': 'RN7SL181P', 'score': 0.44}, {'connected_gene': 'PIR40575', 'score': 0.39}]
chr9	GH09I121220	121220752	121222076	1.15	[{'connected_gene': 'RAB14', 'score': 550.77}, {'connected_gene': 'CUTALP', 'score': 4.39}, {'connected_gene': 'TRAF1', 'score': 3.67}, {'connected_gene': 'GSN', 'score': 1.89}]
chr9	GH09I121350	121349917	121366199	1.57	[{'connected_gene': 'RAB14', 'score': 11.77}, {'connected_gene': 'GGTA1P', 'score': 11.5}, {'connected_gene': 'GSN', 'score': 11.05}, {'connected_gene': 'GSN-AS1', 'score': 10.64}, {'connected_gene': 'ENSG00000239593', 'score': 10.63}, {'connected_gene': 'CUTALP', 'score': 8.55}, {'connected_gene': 'TRAF1', 'score': 5.01}, {'connected_gene': 'STOM', 'score': 0.39}, {'connected_gene': 'LOC102723324', 'score': 0.39}, {'connected_gene': 'PIR41790', 'score': 0.29}]
chr9	GH09I121267	121267376	121273508	2.35	[{'connected_gene': 'GSN', 'score': 566.99}, {'connected_gene': 'PSMD5', 'score': 16.31}, {'connected_gene': 'CNTRL', 'score': 15.88}, {'connected_gene': 'FBXW2', 'score': 15.62}, {'connected_gene': 'RAB14', 'score': 13.61}, {'connected_gene': 'CUTALP', 'score': 12.93}, {'connected_gene': 'MRRF', 'score': 10.91}, {'connected_gene': 'STOM', 'score': 10.87}, {'connected_gene': 'LOC102723324', 'score': 10.87}, {'connected_gene': 'C5', 'score': 10.78}, {'connected_gene': 'ENSG00000239593', 'score': 0.39}, {'connected_gene': 'LOC645482', 'score': 0.29}]
chr9	GH09I121233	121233511	121235919	1.35	[{'connected_gene': 'GSN', 'score': 12.68}, {'connected_gene': 'ENSG00000239593', 'score': 11.82}, {'connected_gene': 'GSN-AS1', 'score': 11.8}, {'connected_gene': 'STOM', 'score': 10.73}, {'connected_gene': 'LOC102723324', 'score': 10.73}, {'connected_gene': 'C5', 'score': 10.55}, {'connected_gene': 'CUTALP', 'score': 4.63}, {'connected_gene': 'LOC645482', 'score': 0.44}, {'connected_gene': 'RAB14', 'score': 0.39}]
chr9	GH09I121206	121206691	121208454	1.05	[{'connected_gene': 'GSN', 'score': 550.77}, {'connected_gene': 'CUTALP', 'score': 15.75}, {'connected_gene': 'PSMD5', 'score': 10.62}, {'connected_gene': 'DAB2IP', 'score': 5.22}, {'connected_gene': 'RN7SL181P', 'score': 0.77}, {'connected_gene': 'RAB14', 'score': 0.37}]
chr9	GH09I121218	121218023	121218172	0.67	[{'connected_gene': 'ENSG00000239593', 'score': 12.08}, {'connected_gene': 'GSN-AS1', 'score': 12.08}, {'connected_gene': 'STOM', 'score': 10.77}, {'connected_gene': 'LOC102723324', 'score': 10.77}, {'connected_gene': 'RAB14', 'score': 0.77}, {'connected_gene': 'GSN', 'score': 0.39}]
chr9	GH09I121212	121212904	121213996	1.13	[{'connected_gene': 'ENSG00000239593', 'score': 12.75}, {'connected_gene': 'GSN-AS1', 'score': 12.74}, {'connected_gene': 'STOM', 'score': 10.24}, {'connected_gene': 'LOC102723324', 'score': 10.24}, {'connected_gene': 'RAB14', 'score': 6.52}, {'connected_gene': 'GSN', 'score': 0.44}]
chr9	GH09I121187	121187286	121189151	0.52	[{'connected_gene': 'PIR40575', 'score': 550.77}, {'connected_gene': 'CUTALP', 'score': 10.55}, {'connected_gene': 'STOM', 'score': 10.37}, {'connected_gene': 'LOC102723324', 'score': 10.37}, {'connected_gene': 'C5', 'score': 7.38}, {'connected_gene': 'RN7SL181P', 'score': 0.39}, {'connected_gene': 'RAB14', 'score': 0.29}]