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
ENST00000553267	[[37126772, 37127105], [37130901, 37131213]]	None
ENST00000402703	[[37126772, 37127105], [37130901, 37131298], [37132101, 37132728], [37135666, 37135806], [37145402, 37147007]]	[[37131294, 37131298], [37132101, 37132728], [37135666, 37135806], [37145402, 37145657]]
ENST00000555639	[[37126875, 37127092], [37131209, 37131298], [37132101, 37132348]]	None
ENST00000361487	[[37131069, 37131298], [37132101, 37132728], [37135666, 37135806], [37145402, 37148920]]	[[37131294, 37131298], [37132101, 37132728], [37135666, 37135806], [37145402, 37145657]]
ENST00000554201	[[37131778, 37132728], [37135666, 37135796], [37145402, 37145611]]	[[37132658, 37132728], [37135666, 37135796], [37145402, 37145493]]
ENST00000557107	[[37135194, 37135806], [37140253, 37140348], [37141184, 37141314], [37145402, 37145560]]	None
NM_006194	[[37126772, 37127105], [37130901, 37131298], [37132101, 37132728], [37135666, 37135806], [37145402, 37147012]]	[[37131294, 37131298], [37132101, 37132728], [37135666, 37135806], [37145402, 37145657]]

Promoter

Chrom	Start	End	Description
chr14	37126765	37126799	CAGE_peak_2_at_PAX9_5end
chr14	37126814	37126834	CAGE_peak_4_at_PAX9_5end
chr14	37131058	37131139	CAGE_peak_1_at_PAX9_5end
chr14	37131404	37131412	CAGE_peak_15_at_PAX9_5end
chr14	37131415	37131422	CAGE_peak_18_at_PAX9_5end
chr14	37132241	37132304	CAGE_peak_3_at_PAX9_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I036659	36655736	36655885	0.72	[{'connected_gene': 'PAX9', 'score': 550.77}, {'connected_gene': 'NKX2-8', 'score': 10.29}, {'connected_gene': 'RPL29P3', 'score': 10.28}, {'connected_gene': 'LOC105370455', 'score': 0.44}, {'connected_gene': 'RN7SKP257', 'score': 0.21}, {'connected_gene': 'GC14M036594', 'score': 0.21}, {'connected_gene': 'ENSG00000283098', 'score': 0.05}]
chr14	GH14I036655	36655956	36656165	0.84	[{'connected_gene': 'PAX9', 'score': 550.77}, {'connected_gene': 'NKX2-8', 'score': 10.29}, {'connected_gene': 'RPL29P3', 'score': 10.28}, {'connected_gene': 'LOC105370455', 'score': 0.44}, {'connected_gene': 'RN7SKP257', 'score': 0.21}, {'connected_gene': 'GC14M036594', 'score': 0.21}, {'connected_gene': 'ENSG00000283098', 'score': 0.05}]
chr14	GH14I036656	36656198	36656945	0.83	[{'connected_gene': 'PAX9', 'score': 550.77}, {'connected_gene': 'NKX2-8', 'score': 10.29}, {'connected_gene': 'RPL29P3', 'score': 10.28}, {'connected_gene': 'LOC105370455', 'score': 0.44}, {'connected_gene': 'RN7SKP257', 'score': 0.21}, {'connected_gene': 'GC14M036594', 'score': 0.21}]
chr14	GH14I036657	36657519	36657578	0.81	[{'connected_gene': 'PAX9', 'score': 550.77}, {'connected_gene': 'LOC105370455', 'score': 0.77}, {'connected_gene': 'RN7SKP257', 'score': 0.21}, {'connected_gene': 'GC14M036594', 'score': 0.21}]
chr14	GH14I036658	36657856	36658005	0.66	[{'connected_gene': 'PAX9', 'score': 550.77}, {'connected_gene': 'LOC105370455', 'score': 0.77}]
chr14	GH14I036664	36663696	36663945	0.69	[{'connected_gene': 'NKX2-8', 'score': 10.67}, {'connected_gene': 'RPL29P3', 'score': 10.66}, {'connected_gene': 'LOC105370455', 'score': 0.77}, {'connected_gene': 'PAX9', 'score': 0.44}, {'connected_gene': 'ENSG00000258690', 'score': 0.13}]
chr14	GH14I036676	36676201	36676525	0.71	[{'connected_gene': 'NKX2-8', 'score': 10.05}, {'connected_gene': 'RPL29P3', 'score': 10.05}, {'connected_gene': 'NKX2-1-AS1', 'score': 9.97}, {'connected_gene': 'NKX2-1', 'score': 9.97}, {'connected_gene': 'SFTA3', 'score': 9.97}, {'connected_gene': 'LOC105370455', 'score': 0.39}, {'connected_gene': 'PAX9', 'score': 0.37}, {'connected_gene': 'ENSG00000258690', 'score': 0.14}]
chr14	GH14I036673	36673372	36673702	0.2	[{'connected_gene': 'NKX2-8', 'score': 10.05}, {'connected_gene': 'RPL29P3', 'score': 10.05}, {'connected_gene': 'NKX2-1-AS1', 'score': 9.97}, {'connected_gene': 'NKX2-1', 'score': 9.97}, {'connected_gene': 'SFTA3', 'score': 9.97}, {'connected_gene': 'LOC105370455', 'score': 0.39}, {'connected_gene': 'PAX9', 'score': 0.37}, {'connected_gene': 'ENSG00000258690', 'score': 0.13}]
chr14	GH14I036605	36605316	36605465	0.69	[{'connected_gene': 'RN7SKP257', 'score': 0.39}, {'connected_gene': 'GC14M036594', 'score': 0.39}, {'connected_gene': 'PAX9', 'score': 0.23}, {'connected_gene': 'ENSG00000283098', 'score': 0.06}]
chr14	GH14I036606	36605056	36605205	0.81	[{'connected_gene': 'RN7SKP257', 'score': 0.39}, {'connected_gene': 'GC14M036594', 'score': 0.39}, {'connected_gene': 'PAX9', 'score': 0.23}, {'connected_gene': 'ENSG00000283098', 'score': 0.06}]
chr14	GH14I036661	36661036	36663045	2.09	[{'connected_gene': 'LOC105370455', 'score': 558.78}, {'connected_gene': 'PAX9', 'score': 558.34}, {'connected_gene': 'LOC644584', 'score': 12.96}, {'connected_gene': 'NKX2-8', 'score': 10.68}, {'connected_gene': 'RPL29P3', 'score': 10.67}, {'connected_gene': 'ENSG00000258690', 'score': 0.13}]
chr14	GH14I036666	36666436	36666585	0.77	[{'connected_gene': 'LOC105370455', 'score': 8.94}, {'connected_gene': 'PAX9', 'score': 7.72}, {'connected_gene': 'ENSG00000258690', 'score': 0.13}]
chr14	GH14I036648	36648096	36648245	0.97	[{'connected_gene': 'LOC105370455', 'score': 23.79}, {'connected_gene': 'NKX2-8', 'score': 10.07}, {'connected_gene': 'RPL29P3', 'score': 10.06}, {'connected_gene': 'PAX9', 'score': 0.44}, {'connected_gene': 'RN7SKP257', 'score': 0.23}, {'connected_gene': 'GC14M036594', 'score': 0.23}, {'connected_gene': 'ENSG00000283098', 'score': 0.05}]
chr14	GH14I036650	36650621	36650754	0.46	[{'connected_gene': 'LOC105370455', 'score': 23.83}, {'connected_gene': 'NKX2-8', 'score': 10.3}, {'connected_gene': 'RPL29P3', 'score': 10.29}, {'connected_gene': 'PAX9', 'score': 0.44}, {'connected_gene': 'RN7SKP257', 'score': 0.22}, {'connected_gene': 'GC14M036594', 'score': 0.22}, {'connected_gene': 'ENSG00000283098', 'score': 0.05}]
chr14	GH14I036663	36663176	36663345	0.72	[{'connected_gene': 'LOC105370455', 'score': 550.77}, {'connected_gene': 'NKX2-8', 'score': 10.67}, {'connected_gene': 'RPL29P3', 'score': 10.66}, {'connected_gene': 'PAX9', 'score': 0.44}, {'connected_gene': 'ENSG00000258690', 'score': 0.13}]
chr14	GH14I036952	36952442	36953718	0.56	[{'connected_gene': 'MIR4503', 'score': 550.77}, {'connected_gene': 'PAX9', 'score': 7.8}, {'connected_gene': 'GC14P036975', 'score': 0.34}, {'connected_gene': 'SLC25A21', 'score': 0.08}]
chr14	GH14I036517	36517115	36521351	1.78	[{'connected_gene': 'NKX2-1-AS1', 'score': 550.77}, {'connected_gene': 'NKX2-1', 'score': 550.77}, {'connected_gene': 'ENSG00000257520', 'score': 550.77}, {'connected_gene': 'PAX9', 'score': 4.77}, {'connected_gene': 'NKX2-8', 'score': 4.49}, {'connected_gene': 'SFTA3', 'score': 0.44}, {'connected_gene': 'ENSG00000283098', 'score': 0.08}]