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
ENST00000396060	[[59930260, 59931356], [59934334, 59934461], [59942867, 59942972], [59944404, 59944525], [59949604, 59949737]]	[[59931330, 59931356], [59934334, 59934461], [59942867, 59942972], [59944404, 59944476]]
ENST00000267869	[[59931057, 59931356], [59934334, 59934461], [59949604, 59949696]]	None
ENST00000396064	[[59931064, 59931356], [59942867, 59942972], [59944404, 59944525], [59949604, 59949719]]	[[59931326, 59931356], [59942867, 59942972], [59944404, 59944476]]
ENST00000396063	[[59931067, 59931356], [59934334, 59934461], [59942867, 59942972], [59944404, 59944525], [59949013, 59949232], [59949604, 59949713]]	[[59931330, 59931356], [59934334, 59934461], [59942867, 59942972], [59944404, 59944476]]
ENST00000396061	[[59931307, 59931356], [59934334, 59934461], [59942867, 59942972], [59944404, 59944525], [59949322, 59949678]]	[[59931330, 59931356], [59934334, 59934461], [59942867, 59942972], [59944404, 59944476]]
ENST00000484743	[[59931311, 59931356], [59934334, 59934461], [59944404, 59944525], [59949604, 59949719]]	[[59931330, 59931356], [59934334, 59934461], [59944404, 59944476]]
ENST00000559141	[[59934334, 59934461], [59942867, 59942963], [59949604, 59949674]]	None
ENST00000559706	[[59934412, 59934461], [59942867, 59942963], [59944404, 59944525], [59949604, 59949720]]	[[59934412, 59934461], [59942867, 59942963], [59944404, 59944476]]
ENST00000480768	[[59943383, 59944525], [59949604, 59949740]]	None
ENST00000472508	[[59944498, 59944525], [59945077, 59945174], [59949604, 59949682]]	None
NM_001320929	[[59930260, 59931356], [59934334, 59934461], [59942867, 59942972], [59944404, 59944525], [59949322, 59949453]]	[[59931330, 59931356], [59934334, 59934461], [59942867, 59942972], [59944404, 59944476]]
NM_004492	[[59930260, 59931356], [59934334, 59934461], [59942867, 59942972], [59944404, 59944525], [59949604, 59949737]]	[[59931330, 59931356], [59934334, 59934461], [59942867, 59942972], [59944404, 59944476]]
NM_001320930	[[59930260, 59931356], [59934334, 59934461], [59942867, 59942972], [59944404, 59944525], [59949013, 59949232], [59949604, 59949740]]	[[59931330, 59931356], [59934334, 59934461], [59942867, 59942972], [59944404, 59944476]]

Promoter

Chrom	Start	End	Description
chr15	59949443	59949468	CAGE_peak_5_at_GTF2A2_5end
chr15	59949497	59949508	CAGE_peak_3_at_GTF2A2_5end
chr15	59949667	59949690	CAGE_peak_2_at_GTF2A2_5end
chr15	59949693	59949751	CAGE_peak_1_at_GTF2A2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr15	GH15I059611	59611209	59613406	1.68	[{'connected_gene': 'GCNT3', 'score': 550.37}, {'connected_gene': 'GTF2A2', 'score': 20.23}, {'connected_gene': 'GC15M059584', 'score': 0.37}, {'connected_gene': 'GC15P059642', 'score': 0.31}]
chr15	GH15I059684	59684020	59691136	2.49	[{'connected_gene': 'BNIP2', 'score': 557.43}, {'connected_gene': 'ENSG00000259238', 'score': 550.77}, {'connected_gene': 'GTF2A2', 'score': 22.84}, {'connected_gene': 'PIR36988', 'score': 0.39}]
chr15	GH15I059691	59691302	59691491	0.56	[{'connected_gene': 'BNIP2', 'score': 550.77}, {'connected_gene': 'GTF2A2', 'score': 17.57}, {'connected_gene': 'GC15M059729', 'score': 0.28}]
chr15	GH15I059614	59614519	59616901	1.09	[{'connected_gene': 'GTF2A2', 'score': 10.45}, {'connected_gene': 'GC15M059584', 'score': 0.37}, {'connected_gene': 'GCNT3', 'score': 0.34}, {'connected_gene': 'GC15P059642', 'score': 0.31}]
chr15	GH15I059656	59656011	59658229	2.01	[{'connected_gene': 'GTF2A2', 'score': 573.66}, {'connected_gene': 'SLTM', 'score': 14.35}, {'connected_gene': 'ICE2', 'score': 12.68}, {'connected_gene': 'RPS3AP6', 'score': 11.4}, {'connected_gene': 'GC15M059646', 'score': 0.77}, {'connected_gene': 'ENSG00000227161', 'score': 0.37}]
chr15	GH15I059701	59701606	59701948	0.38	[{'connected_gene': 'GTF2A2', 'score': 10.35}, {'connected_gene': 'BNIP2', 'score': 0.39}, {'connected_gene': 'GC15M059729', 'score': 0.31}]
chr15	GH15I059696	59696316	59697008	0.72	[{'connected_gene': 'GTF2A2', 'score': 10.43}, {'connected_gene': 'BNIP2', 'score': 0.44}, {'connected_gene': 'GC15M059729', 'score': 0.29}]
chr15	GH15I059699	59699665	59701299	0.65	[{'connected_gene': 'GTF2A2', 'score': 24.11}, {'connected_gene': 'BNIP2', 'score': 0.39}, {'connected_gene': 'GC15M059729', 'score': 0.29}]
chr15	GH15I059661	59661942	59663114	0.2	[{'connected_gene': 'GTF2A2', 'score': 23.08}, {'connected_gene': 'ENSG00000227161', 'score': 0.44}, {'connected_gene': 'GC15P059669', 'score': 0.44}, {'connected_gene': 'BNIP2', 'score': 0.31}]
chr15	GH15I059541	59541443	59541959	0.38	[{'connected_gene': 'GTF2A2', 'score': 10.21}, {'connected_gene': 'MIR2116', 'score': 10.03}, {'connected_gene': 'MYO1E', 'score': 9.77}, {'connected_gene': 'GC15P059543', 'score': 0.77}, {'connected_gene': 'RPL21P114', 'score': 0.37}]
chr15	GH15I059540	59540273	59541062	0.85	[{'connected_gene': 'GTF2A2', 'score': 10.21}, {'connected_gene': 'MIR2116', 'score': 10.03}, {'connected_gene': 'MYO1E', 'score': 9.77}, {'connected_gene': 'GC15P059543', 'score': 0.77}, {'connected_gene': 'RPL21P114', 'score': 0.39}]
chr15	GH15I059516	59516348	59517819	0.58	[{'connected_gene': 'MIR2116', 'score': 10.82}, {'connected_gene': 'MYO1E', 'score': 10.2}, {'connected_gene': 'RNU4-80P', 'score': 10.15}, {'connected_gene': 'GTF2A2', 'score': 9.97}, {'connected_gene': 'FAM81A', 'score': 9.73}, {'connected_gene': 'GC15M059526', 'score': 0.44}, {'connected_gene': 'ENSG00000200252', 'score': 0.14}]
chr15	GH15I059676	59676660	59677349	0.2	[{'connected_gene': 'PIR36988', 'score': 550.77}, {'connected_gene': 'PIGHP1', 'score': 550.77}, {'connected_gene': 'GTF2A2', 'score': 18.22}, {'connected_gene': 'BNIP2', 'score': 0.39}]
chr15	GH15I059678	59678210	59679928	0.52	[{'connected_gene': 'PIR36988', 'score': 550.77}, {'connected_gene': 'GTF2A2', 'score': 22.88}, {'connected_gene': 'ENSG00000259238', 'score': 0.44}, {'connected_gene': 'BNIP2', 'score': 0.39}]